#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
ACTRT2	140625	broad.mit.edu	37	1	2939015	2939015	+	Silent	SNP	G	G	A	rs145991951		TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr1:2939015G>A	ENST00000378404.2	+	1	970	c.765G>A	c.(763-765)ccG>ccA	p.P255P		NM_080431.4	NP_536356.3	Q8TDY3	ACTT2_HUMAN	actin-related protein T2	255						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26	all_cancers(77;0.00205)|all_epithelial(69;0.0011)|Ovarian(185;0.0634)|Lung NSC(156;0.0893)|all_lung(157;0.0909)	all_epithelial(116;2.66e-20)|all_lung(118;1.56e-08)|Lung NSC(185;2.54e-06)|Breast(487;0.00156)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;7.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.15e-22)|GBM - Glioblastoma multiforme(42;1.1e-12)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000329)|BRCA - Breast invasive adenocarcinoma(365;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.125)		TCGGGGACCCGCTGCACCAGG	0.657																																						uc001ajz.2		NA																	0					0						c.(763-765)CCG>CCA		actin-related protein M2		G		1,4399		0,1,2199	34.0	40.0	38.0		765	3.9	1.0	1	dbSNP_134	38	0,8590		0,0,4295	no	coding-synonymous	ACTRT2	NM_080431.4		0,1,6494	AA,AG,GG		0.0,0.0227,0.0077		255/378	2939015	1,12989	2200	4295	6495	SO:0001819	synonymous_variant	140625					cytoplasm|cytoskeleton		g.chr1:2939015G>A	AF440740, AB057364	CCDS45.1	1p36.3	2008-02-05	2005-11-22		ENSG00000169717	ENSG00000169717			24026	protein-coding gene	gene with protein product		608535				11750065, 12243744	Standard	NM_080431		Approved	Arp-T2, ARPM2, FLJ25424	uc001ajz.3	Q8TDY3	OTTHUMG00000000562	ENST00000378404.2:c.765G>A	1.37:g.2939015G>A							p.P255P	NM_080431	NP_536356	Q8TDY3	ACTT2_HUMAN		Epithelial(90;7.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.15e-22)|GBM - Glioblastoma multiforme(42;1.1e-12)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000329)|BRCA - Breast invasive adenocarcinoma(365;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.125)	1	970	+	all_cancers(77;0.00205)|all_epithelial(69;0.0011)|Ovarian(185;0.0634)|Lung NSC(156;0.0893)|all_lung(157;0.0909)	all_epithelial(116;2.66e-20)|all_lung(118;1.56e-08)|Lung NSC(185;2.54e-06)|Breast(487;0.00156)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)	255					B1AN52|Q8NHS6|Q8TDG1	Silent	SNP	ENST00000378404.2	37	c.765G>A	CCDS45.1																																																																																				0.657	ACTRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001331.1	NM_080431		11	62	0	0	0	0	11	62				
STX12	23673	broad.mit.edu	37	1	28144385	28144385	+	Silent	SNP	G	G	A			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr1:28144385G>A	ENST00000373943.4	+	7	725	c.600G>A	c.(598-600)caG>caA	p.Q200Q	RP3-426I6.6_ENST00000602843.1_RNA	NM_177424.2	NP_803173.1	Q86Y82	STX12_HUMAN	syntaxin 12	200	t-SNARE coiled-coil homology. {ECO:0000255|PROSITE-ProRule:PRU00202}.				cholesterol efflux (GO:0033344)|intracellular protein transport (GO:0006886)|protein stabilization (GO:0050821)|synaptic vesicle exocytosis (GO:0016079)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|phagocytic vesicle (GO:0045335)|SNARE complex (GO:0031201)	SNAP receptor activity (GO:0005484)|SNARE binding (GO:0000149)			breast(1)|central_nervous_system(1)|large_intestine(3)|lung(3)	8		Colorectal(325;3.46e-05)|all_lung(284;9.43e-05)|Lung NSC(340;0.000185)|Renal(390;0.00121)|Breast(348;0.0021)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;3.96e-24)|Colorectal(126;3.46e-08)|COAD - Colon adenocarcinoma(152;1.83e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00258)|KIRC - Kidney renal clear cell carcinoma(1967;0.00302)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0649)		ATGTCAATCAGATATTTAAAG	0.348																																					Ovarian(5;5 342 2097 9488 34083)	uc001bou.3		NA																	0				breast(1)|central_nervous_system(1)	2						c.(598-600)CAG>CAA		syntaxin 12							174.0	159.0	164.0					1																	28144385		2203	4300	6503	SO:0001819	synonymous_variant	23673				cholesterol efflux|intracellular protein transport|protein stabilization|vesicle-mediated transport	Golgi apparatus|integral to membrane|membrane raft|phagocytic vesicle	SNAP receptor activity	g.chr1:28144385G>A	BC046999	CCDS310.1	1p35.3	2008-05-14			ENSG00000117758	ENSG00000117758			11430	protein-coding gene	gene with protein product		606892				9507000	Standard	NM_177424		Approved	STX13, STX14	uc001bou.4	Q86Y82	OTTHUMG00000003730	ENST00000373943.4:c.600G>A	1.37:g.28144385G>A							p.Q200Q	NM_177424	NP_803173	Q86Y82	STX12_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;3.96e-24)|Colorectal(126;3.46e-08)|COAD - Colon adenocarcinoma(152;1.83e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00258)|KIRC - Kidney renal clear cell carcinoma(1967;0.00302)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0649)	7	725	+		Colorectal(325;3.46e-05)|all_lung(284;9.43e-05)|Lung NSC(340;0.000185)|Renal(390;0.00121)|Breast(348;0.0021)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)	200			t-SNARE coiled-coil homology.|Cytoplasmic (Potential).		B1AJQ7|O95564	Silent	SNP	ENST00000373943.4	37	c.600G>A	CCDS310.1																																																																																				0.348	STX12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010519.1	NM_177424		6	27	0	0	0	0	6	27				
C8A	731	broad.mit.edu	37	1	57340684	57340684	+	Silent	SNP	C	C	A			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr1:57340684C>A	ENST00000361249.3	+	3	330	c.234C>A	c.(232-234)atC>atA	p.I78I		NM_000562.2	NP_000553.1	P07357	CO8A_HUMAN	complement component 8, alpha polypeptide	78	TSP type-1 1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|immune response (GO:0006955)|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)|membrane (GO:0016020)|membrane attack complex (GO:0005579)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	43						GTGGTGACATCTGGGATCAAG	0.488																																						uc001cyo.2		NA																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(232-234)ATC>ATA		complement component 8, alpha polypeptide							89.0	81.0	84.0					1																	57340684		2203	4300	6503	SO:0001819	synonymous_variant	731				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular space|membrane attack complex		g.chr1:57340684C>A	M16974	CCDS606.1	1p32.2	2014-09-17			ENSG00000157131	ENSG00000157131		"""Complement system"""	1352	protein-coding gene	gene with protein product		120950					Standard	NM_000562		Approved		uc001cyo.2	P07357	OTTHUMG00000008306	ENST00000361249.3:c.234C>A	1.37:g.57340684C>A							p.I78I	NM_000562	NP_000553	P07357	CO8A_HUMAN			3	366	+			78			TSP type-1 1.		A2RUI4|A2RUI5|Q13668|Q9H130	Silent	SNP	ENST00000361249.3	37	c.234C>A	CCDS606.1																																																																																				0.488	C8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022890.1	NM_000562		16	28	1	0	1.15e-07	1.49e-07	16	28				
ZZZ3	26009	broad.mit.edu	37	1	78098454	78098454	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr1:78098454T>C	ENST00000370801.3	-	5	1061	c.586A>G	c.(586-588)Atc>Gtc	p.I196V	ZZZ3_ENST00000476275.1_5'UTR|ZZZ3_ENST00000370798.1_Intron	NM_015534.4	NP_056349.1	Q8IYH5	ZZZ3_HUMAN	zinc finger, ZZ-type containing 3	196					chromatin organization (GO:0006325)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(2)	39						TAGCCTGTGATTTCTTCAACT	0.398																																						uc001dhq.2		NA																	0				ovary(4)|large_intestine(1)	5						c.(586-588)ATC>GTC		zinc finger, ZZ-type containing 3							116.0	116.0	116.0					1																	78098454		2203	4300	6503	SO:0001583	missense	26009				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:78098454T>C	AL080063	CCDS677.1	1p31.1	2012-08-13			ENSG00000036549	ENSG00000036549		"""Zinc fingers, ZZ-type"""	24523	protein-coding gene	gene with protein product	"""ATAC component 1 homolog (Drosophila)"""					16428443, 21304275	Standard	NM_015534		Approved	DKFZP564I052, ATAC1	uc001dhq.3	Q8IYH5	OTTHUMG00000009652	ENST00000370801.3:c.586A>G	1.37:g.78098454T>C	ENSP00000359837:p.Ile196Val					ZZZ3_uc001dhr.2_Intron|ZZZ3_uc009wbz.1_Missense_Mutation_p.I196V|ZZZ3_uc001dhp.2_Missense_Mutation_p.I196V	p.I196V	NM_015534	NP_056349	Q8IYH5	ZZZ3_HUMAN			5	1062	-			196					B7WPC6|Q6N004|Q6N070|Q8IYP0|Q8IYR1|Q8TEK4|Q9Y4U0	Missense_Mutation	SNP	ENST00000370801.3	37	c.586A>G	CCDS677.1	.	.	.	.	.	.	.	.	.	.	T	1.858	-0.463314	0.04476	.	.	ENSG00000036549	ENST00000370801	.	.	.	5.34	1.67	0.24075	.	0.447334	0.26159	N	0.025994	T	0.11580	0.0282	N	0.16478	0.41	0.80722	D	1	B;B;B	0.09022	0.002;0.0;0.0	B;B;B	0.06405	0.002;0.0;0.001	T	0.10245	-1.0638	8	.	.	.	.	2.0731	0.03618	0.1209:0.2:0.125:0.5542	.	196;196;196	Q8IYH5-4;Q8IYH5;Q8IYH5-2	.;ZZZ3_HUMAN;.	V	196	.	.	I	-	1	0	ZZZ3	77871042	0.845000	0.29573	1.000000	0.80357	0.984000	0.73092	0.342000	0.19926	0.384000	0.24942	0.528000	0.53228	ATC		0.398	ZZZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026615.1	NM_015534		9	94	0	0	0	0	9	94				
NOTCH2	4853	broad.mit.edu	37	1	120512221	120512221	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr1:120512221C>A	ENST00000256646.2	-	6	1240	c.1021G>T	c.(1021-1023)Gat>Tat	p.D341Y		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	341	EGF-like 9; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				apoptotic process (GO:0006915)|atrial septum morphogenesis (GO:0060413)|bone remodeling (GO:0046849)|cell cycle arrest (GO:0007050)|cell fate determination (GO:0001709)|cell growth (GO:0016049)|ciliary body morphogenesis (GO:0061073)|determination of left/right symmetry (GO:0007368)|embryonic limb morphogenesis (GO:0030326)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|intracellular receptor signaling pathway (GO:0030522)|morphogenesis of an epithelial sheet (GO:0002011)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|placenta blood vessel development (GO:0060674)|positive regulation of apoptotic process (GO:0043065)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Ras protein signal transduction (GO:0046579)|pulmonary valve morphogenesis (GO:0003184)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cilium (GO:0005929)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|ligand-activated RNA polymerase II transcription factor binding transcription factor activity (GO:0038049)|receptor activity (GO:0004872)			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		AAGGCACAATCATCAATGTTC	0.562			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome																													uc001eik.2		NA		Dom	yes		1	1p13-p11	4853	N|F|Mis	Notch homolog 2			L			marginal zone lymphoma|DLBCL		0				lung(8)|haematopoietic_and_lymphoid_tissue(7)|ovary(4)|central_nervous_system(2)|skin(2)|kidney(2)|breast(1)|prostate(1)	27						c.(1021-1023)GAT>TAT		notch 2 preproprotein							182.0	128.0	146.0					1																	120512221		2203	4300	6503	SO:0001583	missense	4853	Alagille_Syndrome	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity	g.chr1:120512221C>A	AF315356	CCDS908.1	1p13-p11	2013-01-10	2010-06-24		ENSG00000134250	ENSG00000134250		"""Ankyrin repeat domain containing"""	7882	protein-coding gene	gene with protein product		600275	"""Notch (Drosophila) homolog 2"", ""Notch homolog 2 (Drosophila)"""			7698746	Standard	NM_001200001		Approved		uc001eik.3	Q04721	OTTHUMG00000012177	ENST00000256646.2:c.1021G>T	1.37:g.120512221C>A	ENSP00000256646:p.Asp341Tyr					NOTCH2_uc001eil.2_Missense_Mutation_p.D341Y|NOTCH2_uc001eim.3_Missense_Mutation_p.D258Y	p.D341Y	NM_024408	NP_077719	Q04721	NOTC2_HUMAN		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)	6	1277	-	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)	341			Extracellular (Potential).|EGF-like 9; calcium-binding (Potential).		Q5T3X7|Q99734|Q9H240	Missense_Mutation	SNP	ENST00000256646.2	37	c.1021G>T	CCDS908.1	.	.	.	.	.	.	.	.	.	.	C	29.2	4.986642	0.93106	.	.	ENSG00000134250	ENST00000256646;ENST00000539617	T	0.61040	0.14	5.72	5.72	0.89469	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.39834	U	0.001242	T	0.71542	0.3352	M	0.67953	2.075	0.80722	D	1	D;D;D	0.89917	0.995;0.999;1.0	D;D;D	0.87578	0.91;0.962;0.998	T	0.72814	-0.4179	10	0.66056	D	0.02	.	18.8677	0.92300	0.0:1.0:0.0:0.0	.	302;341;341	D2WEZ3;Q6IQ50;Q04721	.;.;NOTC2_HUMAN	Y	341;302	ENSP00000256646:D341Y	ENSP00000256646:D341Y	D	-	1	0	NOTCH2	120313744	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.487000	0.81328	2.703000	0.92315	0.650000	0.86243	GAT		0.562	NOTCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033679.1	NM_024408		14	57	1	0	6.32e-08	8.24e-08	14	57				
FLG	2312	broad.mit.edu	37	1	152282297	152282297	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr1:152282297C>G	ENST00000368799.1	-	3	5100	c.5065G>C	c.(5065-5067)Gca>Cca	p.A1689P	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1689	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GAGCTGTCTGCTGACTGCTGG	0.572									Ichthyosis																													uc001ezu.1		NA																	0				ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16						c.(5065-5067)GCA>CCA		filaggrin							298.0	298.0	298.0					1																	152282297		2203	4300	6503	SO:0001583	missense	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152282297C>G	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.5065G>C	1.37:g.152282297C>G	ENSP00000357789:p.Ala1689Pro						p.A1689P	NM_002016	NP_002007	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	5101	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1689			Ser-rich.|Filaggrin 10.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.5065G>C	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	C	10.48	1.361004	0.24684	.	.	ENSG00000143631	ENST00000368799	T	0.07800	3.16	3.26	-4.39	0.03611	.	.	.	.	.	T	0.07188	0.0182	M	0.67953	2.075	0.09310	N	1	D	0.76494	0.999	D	0.85130	0.997	T	0.09662	-1.0664	9	0.33940	T	0.23	.	1.1217	0.01726	0.1612:0.2329:0.1592:0.4468	.	1689	P20930	FILA_HUMAN	P	1689	ENSP00000357789:A1689P	ENSP00000357789:A1689P	A	-	1	0	FLG	150548921	0.000000	0.05858	0.000000	0.03702	0.027000	0.11550	-2.393000	0.01055	-0.845000	0.04179	0.306000	0.20318	GCA		0.572	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		156	410	0	0	0	0	156	410				
FLAD1	80308	broad.mit.edu	37	1	154961254	154961254	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr1:154961254G>A	ENST00000292180.3	+	2	1368	c.1046G>A	c.(1045-1047)gGa>gAa	p.G349E	FLAD1_ENST00000368431.3_Missense_Mutation_p.G250E|FLAD1_ENST00000315144.10_Missense_Mutation_p.G252E|FLAD1_ENST00000295530.2_Missense_Mutation_p.G82E|FLAD1_ENST00000405236.2_Missense_Mutation_p.G250E|FLAD1_ENST00000368428.1_5'UTR|FLAD1_ENST00000368432.1_Missense_Mutation_p.G252E|FLAD1_ENST00000368433.1_Missense_Mutation_p.G349E	NM_025207.4	NP_079483.3	Q8NFF5	FAD1_HUMAN	flavin adenine dinucleotide synthetase 1	349					FAD biosynthetic process (GO:0006747)|Mo-molybdopterin cofactor biosynthetic process (GO:0006777)|riboflavin metabolic process (GO:0006771)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|FMN adenylyltransferase activity (GO:0003919)			endometrium(3)|kidney(4)|large_intestine(2)|lung(7)|ovary(3)|skin(3)	22	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			TTGCCCCAGGGATCGCTGGTC	0.562																																						uc001fgf.1		NA																	0				ovary(2)|skin(1)	3						c.(1045-1047)GGA>GAA		flavin adenine dinucleotide synthetase isoform							65.0	63.0	64.0					1																	154961254		2203	4300	6503	SO:0001583	missense	80308				FAD biosynthetic process|Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol	ATP binding|FMN adenylyltransferase activity	g.chr1:154961254G>A		CCDS1078.1, CCDS1079.1, CCDS53371.1, CCDS53372.1	1q22	2013-03-05	2013-03-05		ENSG00000160688	ENSG00000160688	2.7.7.2		24671	protein-coding gene	gene with protein product		610595	"""Fad1, flavin adenine dinucleotide synthetase, homolog (yeast)"", ""FAD1 flavin adenine dinucleotide synthetase homolog (S. cerevisiae)"", ""flavin adenine dinucleotide synthetase"""				Standard	NM_001184891		Approved	PP591, FAD1	uc001fgf.2	Q8NFF5	OTTHUMG00000037416	ENST00000292180.3:c.1046G>A	1.37:g.154961254G>A	ENSP00000292180:p.Gly349Glu					FLAD1_uc001fgc.2_Missense_Mutation_p.G250E|FLAD1_uc001fgd.1_Missense_Mutation_p.G349E|FLAD1_uc001fge.1_Missense_Mutation_p.G252E|FLAD1_uc001fgg.1_Missense_Mutation_p.G252E|FLAD1_uc001fgh.1_Missense_Mutation_p.G82E	p.G349E	NM_025207	NP_079483	Q8NFF5	FAD1_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.00034)		2	1400	+	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		349					Q8N5J1|Q8N686|Q8WU93|Q8WUJ4|Q96CR8|Q99764|Q9HBN6	Missense_Mutation	SNP	ENST00000292180.3	37	c.1046G>A	CCDS1078.1	.	.	.	.	.	.	.	.	.	.	G	15.03	2.712404	0.48517	.	.	ENSG00000160688	ENST00000368433;ENST00000315144;ENST00000368432;ENST00000368431;ENST00000292180;ENST00000405236;ENST00000295530	.	.	.	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.66317	0.2777	L	0.44542	1.39	0.80722	D	1	D;P;P	0.89917	1.0;0.714;0.663	D;B;B	0.97110	1.0;0.113;0.159	T	0.55742	-0.8093	9	0.17832	T	0.49	-17.9809	19.5221	0.95189	0.0:0.0:1.0:0.0	.	82;349;250	Q5T191;Q8NFF5;Q8NFF5-4	.;FAD1_HUMAN;.	E	349;252;252;250;349;250;82	.	ENSP00000292180:G349E	G	+	2	0	FLAD1	153227878	1.000000	0.71417	0.947000	0.38551	0.308000	0.27856	5.508000	0.67006	2.941000	0.99782	0.655000	0.94253	GGA		0.562	FLAD1-001	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000091089.1	NM_025207		16	83	0	0	0	0	16	83				
PRRC2C	23215	broad.mit.edu	37	1	171549100	171549100	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr1:171549100A>G	ENST00000338920.4	+	28	7637	c.7400A>G	c.(7399-7401)tAt>tGt	p.Y2467C	PRRC2C_ENST00000367742.3_Missense_Mutation_p.Y2469C|PRRC2C_ENST00000426496.2_Missense_Mutation_p.Y2402C|PRRC2C_ENST00000392078.3_Missense_Mutation_p.Y2469C	NM_015172.3	NP_055987.2	Q9Y520	PRC2C_HUMAN	proline-rich coiled-coil 2C	2467	Gln-rich.				hematopoietic progenitor cell differentiation (GO:0002244)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)										CTTCAACCATATAGGTAAATG	0.448																																						uc010pmg.1		NA																	0					0						c.(7399-7401)TAT>TGT		HBxAg transactivated protein 2							52.0	52.0	52.0					1																	171549100		2203	4300	6503	SO:0001583	missense	23215						protein C-terminus binding	g.chr1:171549100A>G	AL096857	CCDS1296.2	1q24.3	2012-07-18	2010-12-09	2010-12-09	ENSG00000117523	ENSG00000117523			24903	protein-coding gene	gene with protein product			"""BAT2 domain containing 1"", ""HLA-B associated transcript 2-like 2"""	BAT2D1, BAT2L2		10470851, 12443540	Standard	NM_015172		Approved	KIAA1096, XTP2	uc010pmg.2	Q9Y520	OTTHUMG00000034665	ENST00000338920.4:c.7400A>G	1.37:g.171549100A>G	ENSP00000343629:p.Tyr2467Cys					BAT2L2_uc010pmh.1_Missense_Mutation_p.Y1379C|BAT2L2_uc010pmi.1_Missense_Mutation_p.Y304C|BAT2L2_uc010pmj.1_Translation_Start_Site	p.Y2467C	NM_015172	NP_055987	Q9Y520	PRC2C_HUMAN			28	7666	+			2467			Gln-rich.		Q05DM8|Q49A39|Q6PD54|Q9H2N2|Q9HA05|Q9NSM8|Q9NXL3|Q9UF29|Q9UPQ6	Missense_Mutation	SNP	ENST00000338920.4	37	c.7400A>G	CCDS1296.2	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	A|A|A	15.40|15.40|15.40	2.822598|2.822598|2.822598	0.50739|0.50739|0.50739	.|.|.	.|.|.	ENSG00000117523|ENSG00000117523|ENSG00000117523	ENST00000412837|ENST00000495585|ENST00000392078;ENST00000451306;ENST00000426496;ENST00000367742;ENST00000338920;ENST00000392080	.|.|T;T;T;T	.|.|0.03920	.|.|3.76;3.8;3.79;3.79	5.5|5.5|5.5	5.5|5.5|5.5	0.81552|0.81552|0.81552	.|.|.	.|.|0.000000	.|.|0.41001	.|.|D	.|.|0.000973	T|T|T	0.10895|0.10895|0.10895	0.0266|0.0266|0.0266	L|L|L	0.50333|0.50333|0.50333	1.59|1.59|1.59	0.80722|0.80722|0.80722	D|D|D	1|1|1	.|.|D	.|.|0.89917	.|.|1.0	.|.|D	.|.|0.91635	.|.|0.999	T|T|T	0.01553|0.01553|0.01553	-1.1326|-1.1326|-1.1326	6|5|10	0.87932|.|0.87932	D|.|D	0|.|0	.|.|.	15.6028|15.6028|15.6028	0.76639|0.76639|0.76639	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.|.	.|.|2467	.|.|Q9Y520-4	.|.|.	M|V|C	270|950|2469;2421;2402;2469;2467;2224	.|.|ENSP00000375928:Y2469C;ENSP00000410219:Y2402C;ENSP00000356716:Y2469C;ENSP00000343629:Y2467C	ENSP00000396375:I270M|.|ENSP00000343629:Y2467C	I|I|Y	+|+|+	3|1|2	3|0|0	PRRC2C|PRRC2C|PRRC2C	169815724|169815724|169815724	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	0.997000|0.997000|0.997000	0.53966|0.53966|0.53966	0.809000|0.809000|0.809000	0.45718|0.45718|0.45718	8.962000|8.962000|8.962000	0.93254|0.93254|0.93254	2.087000|2.087000|2.087000	0.62958|0.62958|0.62958	0.260000|0.260000|0.260000	0.18958|0.18958|0.18958	ATA|ATA|TAT		0.448	PRRC2C-010	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000314826.4	NM_015172		4	25	0	0	0	0	4	25				
NEK2	4751	broad.mit.edu	37	1	211843718	211843718	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr1:211843718G>C	ENST00000366999.4	-	5	808	c.670C>G	c.(670-672)Ctc>Gtc	p.L224V	NEK2_ENST00000462283.1_5'UTR|NEK2_ENST00000540251.1_Missense_Mutation_p.L181V|NEK2_ENST00000366998.3_Missense_Mutation_p.L224V	NM_002497.3	NP_002488.1	P51955	NEK2_HUMAN	NIMA-related kinase 2	224	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				blastocyst development (GO:0001824)|centrosome separation (GO:0051299)|chromosome segregation (GO:0007059)|G2/M transition of mitotic cell cycle (GO:0000086)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of centriole-centriole cohesion (GO:1903126)|negative regulation of DNA binding (GO:0043392)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of mitosis (GO:0007088)|regulation of mitotic centrosome separation (GO:0046602)|spindle assembly (GO:0051225)|spindle assembly involved in mitosis (GO:0090307)	centrosome (GO:0005813)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|kinetochore (GO:0000776)|microtubule (GO:0005874)|midbody (GO:0030496)|nucleus (GO:0005634)|protein complex (GO:0043234)|spindle pole (GO:0000922)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein phosphatase binding (GO:0019903)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|stomach(1)	3				OV - Ovarian serous cystadenocarcinoma(81;0.00203)|all cancers(67;0.0339)|Epithelial(68;0.0546)		TTCCCAGCGAGTTCTTTCTGG	0.343																																						uc001hir.1		NA																	0				breast(2)|stomach(1)	3						c.(670-672)CTC>GTC		NIMA-related kinase 2							118.0	131.0	126.0					1																	211843718		2203	4299	6502	SO:0001583	missense	4751				cell division|centrosome separation|G2/M transition of mitotic cell cycle|meiosis|protein autophosphorylation|regulation of mitosis	centrosome|condensed chromosome kinetochore|cytosol|nucleolus	ATP binding|metal ion binding|protein binding|protein phosphatase binding|protein serine/threonine kinase activity	g.chr1:211843718G>C	U11050	CCDS1500.1, CCDS55682.1, CCDS73024.1	1q32.3	2014-06-12	2012-11-15		ENSG00000117650	ENSG00000117650			7745	protein-coding gene	gene with protein product	"""HsPK 21"", ""protein phosphatase 1, regulatory subunit 111"""	604043	"""NIMA (never in mitosis gene a)-related kinase 2"""			8274451, 24043777	Standard	NM_002497		Approved	NLK1, NEK2A, RP67, PPP1R111	uc001hir.2	P51955	OTTHUMG00000037121	ENST00000366999.4:c.670C>G	1.37:g.211843718G>C	ENSP00000355966:p.Leu224Val					NEK2_uc001hiq.1_Missense_Mutation_p.L224V|NEK2_uc001his.3_Missense_Mutation_p.L224V|NEK2_uc001hit.1_RNA	p.L224V	NM_002497	NP_002488	P51955	NEK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00203)|all cancers(67;0.0339)|Epithelial(68;0.0546)	5	816	-			224			Protein kinase.		Q53FD6|Q5I1Z9|Q5VXZ1|Q6NZX8|Q7Z634|Q86XH2|Q96QN9	Missense_Mutation	SNP	ENST00000366999.4	37	c.670C>G	CCDS1500.1	.	.	.	.	.	.	.	.	.	.	G	16.71	3.197627	0.58126	.	.	ENSG00000117650	ENST00000366999;ENST00000540251;ENST00000366998	T;T;T	0.65549	-0.16;-0.16;-0.16	5.45	-0.763	0.11030	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.65428	0.2690	L	0.38531	1.155	0.37966	D	0.933144	D;D;D	0.64830	0.992;0.994;0.992	D;D;D	0.68353	0.929;0.957;0.929	T	0.67806	-0.5575	10	0.87932	D	0	.	11.251	0.49026	0.5165:0.0:0.4835:0.0	.	224;224;224	P51955-2;P51955;P51955-4	.;NEK2_HUMAN;.	V	224;181;224	ENSP00000355966:L224V;ENSP00000440237:L181V;ENSP00000355965:L224V	ENSP00000355965:L224V	L	-	1	0	NEK2	209910341	0.963000	0.33076	0.896000	0.35187	0.987000	0.75469	0.633000	0.24598	-0.037000	0.13646	-0.140000	0.14226	CTC		0.343	NEK2-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090154.1	NM_002497		19	202	0	0	0	0	19	202				
URB2	9816	broad.mit.edu	37	1	229794895	229794895	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr1:229794895C>T	ENST00000258243.2	+	10	4562	c.4426C>T	c.(4426-4428)Ctc>Ttc	p.L1476F		NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog (S. cerevisiae)	1476						aggresome (GO:0016235)|nucleolus (GO:0005730)|nucleus (GO:0005634)				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						GGGCATTTACCTCATCCTGGA	0.517																																						uc001hts.1		NA																	0				central_nervous_system(2)|ovary(1)	3						c.(4426-4428)CTC>TTC		URB2 ribosome biogenesis 2 homolog							128.0	132.0	131.0					1																	229794895		2203	4300	6503	SO:0001583	missense	9816					nucleolus		g.chr1:229794895C>T	D50923	CCDS31052.1	1q42.13	2009-11-06	2008-10-01	2008-10-01	ENSG00000135763	ENSG00000135763			28967	protein-coding gene	gene with protein product	"""nucleolar preribosomal-associated protein 1"""		"""KIAA0133"""	KIAA0133		8590280	Standard	NM_014777		Approved	NPA2, NET10	uc001hts.1	Q14146	OTTHUMG00000039464	ENST00000258243.2:c.4426C>T	1.37:g.229794895C>T	ENSP00000258243:p.Leu1476Phe					URB2_uc009xfd.1_Missense_Mutation_p.L1476F	p.L1476F	NM_014777	NP_055592	Q14146	URB2_HUMAN			10	4562	+			1476					Q5VYC9	Missense_Mutation	SNP	ENST00000258243.2	37	c.4426C>T	CCDS31052.1	.	.	.	.	.	.	.	.	.	.	C	19.68	3.873742	0.72180	.	.	ENSG00000135763	ENST00000258243	T	0.44482	0.92	5.57	5.57	0.84162	Nucleolar 27S pre-rRNA processing, Urb2/Npa2, C-terminal (1);	0.246207	0.40818	N	0.001013	T	0.63628	0.2527	M	0.65975	2.015	0.36952	D	0.892908	D	0.69078	0.997	D	0.68621	0.959	T	0.66452	-0.5920	9	.	.	.	-19.9461	19.1596	0.93526	0.0:1.0:0.0:0.0	.	1476	Q14146	URB2_HUMAN	F	1476	ENSP00000258243:L1476F	.	L	+	1	0	URB2	227861518	1.000000	0.71417	0.999000	0.59377	0.919000	0.55068	3.421000	0.52742	2.599000	0.87857	0.650000	0.86243	CTC		0.517	URB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095232.1	NM_014777		54	127	0	0	0	0	54	127				
SLC39A12	221074	broad.mit.edu	37	10	18289628	18289628	+	Silent	SNP	C	C	T			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr10:18289628C>T	ENST00000377369.2	+	11	1906	c.1633C>T	c.(1633-1635)Ctg>Ttg	p.L545L	SLC39A12_ENST00000539911.1_Silent_p.L411L|SLC39A12-AS1_ENST00000439319.1_RNA|SLC39A12_ENST00000377371.3_Silent_p.L544L|SLC39A12-AS1_ENST00000445287.1_RNA|SLC39A12_ENST00000377374.4_Silent_p.L508L	NM_001145195.1|NM_001282733.1|NM_001282734.1	NP_001138667.1|NP_001269662.1|NP_001269663.1	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter), member 12	545					regulation of microtubule polymerization (GO:0031113)|regulation of neuron projection development (GO:0010975)|signal transduction (GO:0007165)|zinc ion transmembrane import (GO:0071578)	integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	zinc ion transmembrane transporter activity (GO:0005385)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						AATCATGATTCTGGTTGGGGA	0.423																																						uc001ipo.2		NA																	0				ovary(1)|breast(1)	2						c.(1633-1635)CTG>TTG		solute carrier family 39 (zinc transporter),							177.0	158.0	164.0					10																	18289628		2203	4300	6503	SO:0001819	synonymous_variant	221074				zinc ion transport	integral to membrane	metal ion transmembrane transporter activity	g.chr10:18289628C>T		CCDS7124.1, CCDS44362.1, CCDS60493.1, CCDS60494.1	10p12.33	2013-05-22			ENSG00000148482	ENSG00000148482		"""Solute carriers"""	20860	protein-coding gene	gene with protein product		608734	"""solute carrier family 39 (metal ion transporter), member 12"""			12659941	Standard	NM_152725		Approved	FLJ30499	uc001ipo.2	Q504Y0	OTTHUMG00000017759	ENST00000377369.2:c.1633C>T	10.37:g.18289628C>T						SLC39A12_uc001ipn.2_Silent_p.L508L|SLC39A12_uc001ipp.2_Silent_p.L544L|SLC39A12_uc010qck.1_Silent_p.L411L	p.L545L	NM_001145195	NP_001138667	Q504Y0	S39AC_HUMAN			11	1906	+			545			Helical; (Potential).		B7ZL35|C9JJL4|Q49AN8|Q4G0L3|Q5VWV8|Q5VWV9|Q6NZY5|Q96NN4	Silent	SNP	ENST00000377369.2	37	c.1633C>T	CCDS44362.1																																																																																				0.423	SLC39A12-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_152725		21	58	0	0	0	0	21	58				
OR52K1	390036	broad.mit.edu	37	11	4510853	4510853	+	Silent	SNP	G	G	A			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr11:4510853G>A	ENST00000307632.3	+	1	745	c.723G>A	c.(721-723)ggG>ggA	p.G241G		NM_001005171.2	NP_001005171.2	Q8NGK4	O52K1_HUMAN	olfactory receptor, family 52, subfamily K, member 1	241						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(18)|skin(2)|stomach(1)	32		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;1.76e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0836)|LUSC - Lung squamous cell carcinoma(625;0.192)		AGGCATTTGGGACATGTGTGT	0.537																																						uc001lza.1		NA																	0					0						c.(721-723)GGG>GGA		olfactory receptor, family 52, subfamily K,							303.0	259.0	274.0					11																	4510853		2201	4298	6499	SO:0001819	synonymous_variant	390036				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4510853G>A	AB065790	CCDS31352.1	11p15.4	2012-08-09			ENSG00000196778	ENSG00000196778		"""GPCR / Class A : Olfactory receptors"""	15222	protein-coding gene	gene with protein product							Standard	NM_001005171		Approved		uc001lza.2	Q8NGK4	OTTHUMG00000165705	ENST00000307632.3:c.723G>A	11.37:g.4510853G>A							p.G241G	NM_001005171	NP_001005171	Q8NGK4	O52K1_HUMAN		Epithelial(150;1.76e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0836)|LUSC - Lung squamous cell carcinoma(625;0.192)	1	723	+		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)	241			Helical; Name=6; (Potential).		B9EH54|Q6IFK5	Silent	SNP	ENST00000307632.3	37	c.723G>A	CCDS31352.1																																																																																				0.537	OR52K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385846.1	NM_001005171		55	121	0	0	0	0	55	121				
FNBP4	23360	broad.mit.edu	37	11	47741494	47741494	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr11:47741494G>A	ENST00000263773.5	-	16	2962	c.2950C>T	c.(2950-2952)Cag>Tag	p.Q984*		NM_015308.2	NP_056123.2	Q8N3X1	FNBP4_HUMAN	formin binding protein 4	984						nucleus (GO:0005634)				NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	44						ACCAGCTGCTGCTGTTTCCAC	0.443																																						uc009ylv.2		NA																	0				ovary(1)	1						c.(2950-2952)CAG>TAG		formin binding protein 4							140.0	132.0	135.0					11																	47741494		1899	4132	6031	SO:0001587	stop_gained	23360							g.chr11:47741494G>A	BC037404	CCDS41644.1	11q12.1	2008-02-05			ENSG00000109920	ENSG00000109920			19752	protein-coding gene	gene with protein product		615265				10231032	Standard	NM_015308		Approved	KIAA1014	uc009ylv.3	Q8N3X1	OTTHUMG00000166533	ENST00000263773.5:c.2950C>T	11.37:g.47741494G>A	ENSP00000263773:p.Gln984*					FNBP4_uc001ngi.2_Nonsense_Mutation_p.Q298*|FNBP4_uc001ngj.2_Nonsense_Mutation_p.Q891*	p.Q984*	NM_015308	NP_056123	Q8N3X1	FNBP4_HUMAN			16	3103	-			984					Q9H985|Q9NT81|Q9Y2L7	Nonsense_Mutation	SNP	ENST00000263773.5	37	c.2950C>T	CCDS41644.1	.	.	.	.	.	.	.	.	.	.	G	40	8.196272	0.98701	.	.	ENSG00000109920	ENST00000263773	.	.	.	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-11.1931	19.4915	0.95052	0.0:0.0:1.0:0.0	.	.	.	.	X	984	.	ENSP00000263773:Q984X	Q	-	1	0	FNBP4	47698070	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.424000	0.97464	2.596000	0.87737	0.655000	0.94253	CAG		0.443	FNBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390237.3			12	60	0	0	0	0	12	60				
OR5T1	390155	broad.mit.edu	37	11	56043788	56043788	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr11:56043788T>C	ENST00000313033.2	+	1	760	c.674T>C	c.(673-675)aTt>aCt	p.I225T		NM_001004745.1	NP_001004745.1	Q8NG75	OR5T1_HUMAN	olfactory receptor, family 5, subfamily T, member 1	225						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(27)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	43	Esophageal squamous(21;0.00448)					ACTATCCTGATTGTCCTGATC	0.428																																						uc001nio.1		NA																	0				ovary(2)|pancreas(1)	3						c.(673-675)ATT>ACT		olfactory receptor, family 5, subfamily T,							210.0	198.0	202.0					11																	56043788		2201	4296	6497	SO:0001583	missense	390155				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56043788T>C	AB065962	CCDS31525.1	11q11	2012-08-09		2004-03-10	ENSG00000181698	ENSG00000181698		"""GPCR / Class A : Olfactory receptors"""	14821	protein-coding gene	gene with protein product				OR5T1P			Standard	NM_001004745		Approved		uc001nio.1	Q8NG75	OTTHUMG00000166853	ENST00000313033.2:c.674T>C	11.37:g.56043788T>C	ENSP00000323612:p.Ile225Thr						p.I225T	NM_001004745	NP_001004745	Q8NG75	OR5T1_HUMAN			1	674	+	Esophageal squamous(21;0.00448)		225			Helical; Name=5; (Potential).		B2RNM9	Missense_Mutation	SNP	ENST00000313033.2	37	c.674T>C	CCDS31525.1	.	.	.	.	.	.	.	.	.	.	T	9.176	1.022316	0.19433	.	.	ENSG00000181698	ENST00000313033	T	0.42131	0.98	3.44	1.13	0.20643	GPCR, rhodopsin-like superfamily (1);	0.254304	0.27354	N	0.019743	T	0.29423	0.0733	N	0.13140	0.3	0.09310	N	1	P	0.35656	0.514	P	0.45712	0.491	T	0.18935	-1.0321	10	0.29301	T	0.29	.	7.4139	0.27034	0.0:0.2081:0.0:0.7919	.	225	Q8NG75	OR5T1_HUMAN	T	225	ENSP00000323612:I225T	ENSP00000323612:I225T	I	+	2	0	OR5T1	55800364	0.000000	0.05858	0.001000	0.08648	0.756000	0.42949	0.243000	0.18106	0.517000	0.28361	-0.665000	0.03846	ATT		0.428	OR5T1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391600.1	NM_001004745		58	131	0	0	0	0	58	131				
SHANK2	22941	broad.mit.edu	37	11	70319378	70319378	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr11:70319378C>G	ENST00000423696.2	-	16	4045	c.4009G>C	c.(4009-4011)Gag>Cag	p.E1337Q	SHANK2_ENST00000449833.2_Missense_Mutation_p.E1121Q|SHANK2_ENST00000338508.4_Missense_Mutation_p.E1717Q|SHANK2_ENST00000409161.1_Missense_Mutation_p.E1120Q			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	1337					adult behavior (GO:0030534)|learning (GO:0007612)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell junction (GO:0030054)|ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|growth cone (GO:0030426)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GKAP/Homer scaffold activity (GO:0030160)|ionotropic glutamate receptor binding (GO:0035255)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			TTGTTCATCTCTGTTGGCGAG	0.632																																						uc001oqc.2		NA																	0				ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5						c.(5146-5148)GAG>CAG		SH3 and multiple ankyrin repeat domains 2							55.0	60.0	58.0					11																	70319378		2200	4294	6494	SO:0001583	missense	22941				intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding	g.chr11:70319378C>G	AF141901		11q13.2	2013-01-10			ENSG00000162105	ENSG00000162105		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	14295	protein-coding gene	gene with protein product		603290	"""cortactin binding protein 1"""	CORTBP1		10506216	Standard	XM_005277930		Approved	CTTNBP1, ProSAP1, SHANK, SPANK-3	uc001oqc.3	Q9UPX8	OTTHUMG00000154615	ENST00000423696.2:c.4009G>C	11.37:g.70319378C>G	ENSP00000394536:p.Glu1337Gln					SHANK2_uc010rqn.1_Missense_Mutation_p.E1128Q|SHANK2_uc001opz.2_Missense_Mutation_p.E1121Q|uc009ysn.1_Intron|SHANK2_uc001opy.2_Missense_Mutation_p.E52Q	p.E1716Q	NM_012309	NP_036441	Q9UPX8	SHAN2_HUMAN	LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)		22	5224	-			1337					C0SPG8|C0SPG9|Q3Y8G9|Q52LK2|Q9UKP1	Missense_Mutation	SNP	ENST00000423696.2	37	c.5146G>C		.	.	.	.	.	.	.	.	.	.	C	16.70	3.195822	0.58126	.	.	ENSG00000162105	ENST00000449833;ENST00000409161;ENST00000424924;ENST00000338508;ENST00000423696;ENST00000433693;ENST00000294018	T;T;T;T;T;T	0.45668	2.17;2.2;2.92;0.89;2.3;2.33	5.91	5.91	0.95273	.	0.152792	0.64402	D	0.000013	T	0.57932	0.2087	L	0.44542	1.39	0.80722	D	1	D;D;D	0.65815	0.992;0.995;0.992	P;D;D	0.64042	0.905;0.921;0.921	T	0.53158	-0.8478	10	0.49607	T	0.09	.	20.3018	0.98617	0.0:1.0:0.0:0.0	.	1337;1716;1121	Q9UPX8;Q9UPX8-3;Q9UPX8-4	SHAN2_HUMAN;.;.	Q	1121;1120;995;1717;1337;1355;1340	ENSP00000399423:E1121Q;ENSP00000386491:E1120Q;ENSP00000402944:E995Q;ENSP00000345193:E1717Q;ENSP00000394536:E1337Q;ENSP00000294018:E1340Q	ENSP00000294018:E1340Q	E	-	1	0	SHANK2	69997026	1.000000	0.71417	0.785000	0.31869	0.969000	0.65631	5.448000	0.66612	2.799000	0.96334	0.650000	0.86243	GAG		0.632	SHANK2-203	KNOWN	basic	protein_coding	protein_coding		NM_012309		26	420	0	0	0	0	26	420				
SHANK2	22941	broad.mit.edu	37	11	70332717	70332717	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr11:70332717C>A	ENST00000423696.2	-	15	2580	c.2544G>T	c.(2542-2544)atG>atT	p.M848I	SHANK2_ENST00000449833.2_Missense_Mutation_p.M632I|SHANK2_ENST00000338508.4_Missense_Mutation_p.M1228I|SHANK2_ENST00000409161.1_Missense_Mutation_p.M631I			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	848					adult behavior (GO:0030534)|learning (GO:0007612)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell junction (GO:0030054)|ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|growth cone (GO:0030426)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GKAP/Homer scaffold activity (GO:0030160)|ionotropic glutamate receptor binding (GO:0035255)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			GAGACTCCTTCATGGCTCGGT	0.627																																						uc001oqc.2		NA																	0				ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5						c.(3679-3681)ATG>ATT		SH3 and multiple ankyrin repeat domains 2							54.0	63.0	60.0					11																	70332717		2200	4294	6494	SO:0001583	missense	22941				intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding	g.chr11:70332717C>A	AF141901		11q13.2	2013-01-10			ENSG00000162105	ENSG00000162105		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	14295	protein-coding gene	gene with protein product		603290	"""cortactin binding protein 1"""	CORTBP1		10506216	Standard	XM_005277930		Approved	CTTNBP1, ProSAP1, SHANK, SPANK-3	uc001oqc.3	Q9UPX8	OTTHUMG00000154615	ENST00000423696.2:c.2544G>T	11.37:g.70332717C>A	ENSP00000394536:p.Met848Ile					SHANK2_uc010rqn.1_Missense_Mutation_p.M639I|SHANK2_uc001opz.2_Missense_Mutation_p.M632I|uc009ysn.1_Intron|SHANK2_uc001opy.2_Intron	p.M1227I	NM_012309	NP_036441	Q9UPX8	SHAN2_HUMAN	LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)		21	3759	-			848					C0SPG8|C0SPG9|Q3Y8G9|Q52LK2|Q9UKP1	Missense_Mutation	SNP	ENST00000423696.2	37	c.3681G>T		.	.	.	.	.	.	.	.	.	.	C	9.469	1.095213	0.20471	.	.	ENSG00000162105	ENST00000449833;ENST00000409161;ENST00000424924;ENST00000338508;ENST00000423696;ENST00000433693;ENST00000294018	T;T;T;T;T;T	0.39592	1.07;1.07;1.07;1.07;1.07;1.07	4.88	1.91	0.25777	.	0.316531	0.45126	N	0.000391	T	0.35856	0.0946	M	0.62723	1.935	0.80722	D	1	B;B;B	0.09022	0.001;0.0;0.002	B;B;B	0.10450	0.002;0.003;0.005	T	0.11179	-1.0598	10	0.41790	T	0.15	.	6.8673	0.24100	0.1423:0.706:0.0:0.1517	.	848;1227;632	Q9UPX8;Q9UPX8-3;Q9UPX8-4	SHAN2_HUMAN;.;.	I	632;631;506;1228;848;866;851	ENSP00000399423:M632I;ENSP00000386491:M631I;ENSP00000402944:M506I;ENSP00000345193:M1228I;ENSP00000394536:M848I;ENSP00000294018:M851I	ENSP00000294018:M851I	M	-	3	0	SHANK2	70010365	1.000000	0.71417	0.988000	0.46212	0.835000	0.47333	3.635000	0.54309	0.106000	0.17784	-0.258000	0.10820	ATG		0.627	SHANK2-203	KNOWN	basic	protein_coding	protein_coding		NM_012309		25	506	1	0	3.01e-09	3.96e-09	25	506				
OR10S1	219873	broad.mit.edu	37	11	123847523	123847523	+	Silent	SNP	G	G	T			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr11:123847523G>T	ENST00000531945.1	-	1	965	c.876C>A	c.(874-876)atC>atA	p.I292I		NM_001004474.1	NP_001004474.1	Q8NGN2	O10S1_HUMAN	olfactory receptor, family 10, subfamily S, member 1	292						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(10)|lung(16)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	36		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;0.0399)		TTGGAGTTACGATTGTGTAGA	0.537																																						uc001pzm.1		NA																	0				ovary(1)|skin(1)	2						c.(874-876)ATC>ATA		olfactory receptor, family 10, subfamily S,							92.0	94.0	94.0					11																	123847523		2202	4299	6501	SO:0001819	synonymous_variant	219873				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123847523G>T	BK004509	CCDS31701.1	11q24.1	2012-08-09			ENSG00000196248	ENSG00000196248		"""GPCR / Class A : Olfactory receptors"""	14807	protein-coding gene	gene with protein product							Standard	NM_001004474		Approved		uc001pzm.1	Q8NGN2	OTTHUMG00000165963	ENST00000531945.1:c.876C>A	11.37:g.123847523G>T							p.I292I	NM_001004474	NP_001004474	Q8NGN2	O10S1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)	1	876	-		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	292			Helical; Name=7; (Potential).		B9EH43|Q6IEV3|Q96R78	Silent	SNP	ENST00000531945.1	37	c.876C>A	CCDS31701.1																																																																																				0.537	OR10S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387265.2	NM_001004474		33	76	1	0	2.5e-28	3.44e-28	33	76				
ADAMTS8	11095	broad.mit.edu	37	11	130281312	130281312	+	Splice_Site	SNP	C	C	T			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr11:130281312C>T	ENST00000257359.6	-	6	2456	c.1750G>A	c.(1750-1752)Ggg>Agg	p.G584R		NM_007037.4	NP_008968.4	Q9UP79	ATS8_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 8	584	Cys-rich.				negative regulation of cell proliferation (GO:0008285)|phosphate ion transmembrane transport (GO:0035435)	proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)|low-affinity phosphate transmembrane transporter activity (GO:0009673)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)		TGGTAATTACCGTCAGGGGGG	0.587																																						uc001qgg.3		NA																	0				central_nervous_system(1)	1						c.(1750-1752)GGG>AGG		ADAM metallopeptidase with thrombospondin type 1							54.0	59.0	57.0					11																	130281312		1974	4123	6097	SO:0001630	splice_region_variant	11095				negative regulation of cell proliferation|proteolysis	proteinaceous extracellular matrix	heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding	g.chr11:130281312C>T	AF060153	CCDS41732.1	11q25	2008-07-18	2005-08-19		ENSG00000134917	ENSG00000134917		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	224	protein-coding gene	gene with protein product		605175	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 8"""			10438512	Standard	NM_007037		Approved	METH2, FLJ41712, ADAM-TS8	uc001qgg.4	Q9UP79	OTTHUMG00000165656	ENST00000257359.6:c.1750+1G>A	11.37:g.130281312C>T						ADAMTS8_uc001qgf.2_Missense_Mutation_p.G65R	p.G584R	NM_007037	NP_008968	Q9UP79	ATS8_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)	6	2108	-	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)	584			Cys-rich.		Q9NZS0	Missense_Mutation	SNP	ENST00000257359.6	37	c.1750G>A	CCDS41732.1	.	.	.	.	.	.	.	.	.	.	C	13.48	2.250046	0.39797	.	.	ENSG00000134917	ENST00000257359;ENST00000414575	T	0.03580	3.88	5.35	4.44	0.53790	.	0.193118	0.53938	D	0.000042	T	0.05731	0.0150	L	0.45352	1.415	0.39139	D	0.962	B;P	0.46395	0.222;0.877	B;P	0.45474	0.011;0.482	T	0.49643	-0.8918	9	.	.	.	.	12.2083	0.54365	0.0:0.9217:0.0:0.0783	.	584;65	Q9UP79;B3KVX9	ATS8_HUMAN;.	R	584;613	ENSP00000257359:G584R	.	G	-	1	0	ADAMTS8	129786522	1.000000	0.71417	0.954000	0.39281	0.213000	0.24496	4.730000	0.62015	1.489000	0.48450	0.591000	0.81541	GGG		0.587	ADAMTS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385636.1	NM_007037	Missense_Mutation	13	30	0	0	0	0	13	30				
OLR1	4973	broad.mit.edu	37	12	10313470	10313470	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr12:10313470G>A	ENST00000309539.3	-	4	539	c.479C>T	c.(478-480)tCg>tTg	p.S160L	OLR1_ENST00000543993.1_Intron|OLR1_ENST00000544577.1_Intron|OLR1_ENST00000545927.1_Missense_Mutation_p.S160L|OLR1_ENST00000432556.2_Intron	NM_002543.3	NP_002534.1	P78380	OLR1_HUMAN	oxidized low density lipoprotein (lectin-like) receptor 1	160	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell death (GO:0008219)|inflammatory response (GO:0006954)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|lipoprotein metabolic process (GO:0042157)|proteolysis (GO:0006508)|response to hydrogen peroxide (GO:0042542)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	carbohydrate binding (GO:0030246)|low-density lipoprotein receptor activity (GO:0005041)			breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|skin(1)	10						AAATGAGCCCGAGGAAAATAG	0.428																																						uc001qxo.1		NA																	0				ovary(1)	1						c.(478-480)TCG>TTG		oxidized low density lipoprotein (lectin-like)							168.0	162.0	164.0					12																	10313470		2203	4300	6503	SO:0001583	missense	4973				blood circulation|blood coagulation|inflammatory response|leukocyte migration|proteolysis	extracellular region|integral to plasma membrane|membrane fraction	sugar binding	g.chr12:10313470G>A	D89050	CCDS8618.1, CCDS53745.1, CCDS53746.1	12p13.1-p12.3	2011-08-30	2006-12-07		ENSG00000173391	ENSG00000173391		"""C-type lectin domain containing"""	8133	protein-coding gene	gene with protein product		602601	"""oxidised low density lipoprotein (lectin-like) receptor 1"""			9763655	Standard	NM_002543		Approved	LOX-1, SCARE1, CLEC8A	uc001qxo.1	P78380	OTTHUMG00000168527	ENST00000309539.3:c.479C>T	12.37:g.10313470G>A	ENSP00000309124:p.Ser160Leu					OLR1_uc010sgz.1_Intron|OLR1_uc010sha.1_Intron	p.S160L	NM_002543	NP_002534	P78380	OLR1_HUMAN			4	593	-			160			Extracellular (Potential).|C-type lectin.		A8K7V9|B4DI48|G3V1I4|Q2PP00|Q7Z484	Missense_Mutation	SNP	ENST00000309539.3	37	c.479C>T	CCDS8618.1	.	.	.	.	.	.	.	.	.	.	G	9.843	1.191584	0.21954	.	.	ENSG00000173391	ENST00000309539;ENST00000545927;ENST00000539518;ENST00000538745;ENST00000339968;ENST00000538873	T;T;T;T;T;T	0.62941	2.3;2.3;-0.01;-0.01;-0.01;2.3	4.98	4.06	0.47325	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (2);	0.227351	0.31071	N	0.008306	T	0.50394	0.1613	L	0.55103	1.725	0.33175	D	0.548803	B	0.32717	0.381	B	0.18871	0.023	T	0.60454	-0.7260	10	0.27785	T	0.31	.	10.9071	0.47086	0.0:0.0:0.8043:0.1956	.	160	P78380	OLR1_HUMAN	L	160;160;107;56;56;56	ENSP00000309124:S160L;ENSP00000439251:S160L;ENSP00000442389:S107L;ENSP00000438925:S56L;ENSP00000340572:S56L;ENSP00000438744:S56L	ENSP00000309124:S160L	S	-	2	0	OLR1	10204737	0.992000	0.36948	0.034000	0.17996	0.071000	0.16799	1.999000	0.40806	1.346000	0.45694	0.655000	0.94253	TCG		0.428	OLR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400091.1	NM_002543		38	110	0	0	0	0	38	110				
ITPR2	3709	broad.mit.edu	37	12	26808652	26808652	+	Silent	SNP	G	G	A			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr12:26808652G>A	ENST00000381340.3	-	20	2994	c.2578C>T	c.(2578-2580)Ctg>Ttg	p.L860L		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	860					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cellular response to cAMP (GO:0071320)|cellular response to ethanol (GO:0071361)|energy reserve metabolic process (GO:0006112)|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)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|regulation of insulin secretion (GO:0050796)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	cell cortex (GO:0005938)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|phosphatidylinositol binding (GO:0035091)		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)				Caffeine(DB00201)	TCAAATGTCAGTTTATTTTTT	0.313																																						uc001rhg.2		NA																	0				kidney(6)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	14						c.(2578-2580)CTG>TTG		inositol 1,4,5-triphosphate receptor, type 2							76.0	77.0	77.0					12																	26808652		1797	4062	5859	SO:0001819	synonymous_variant	3709				activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity	g.chr12:26808652G>A	D26350	CCDS41764.1	12p11.23	2014-07-18	2011-04-28		ENSG00000123104	ENSG00000123104		"""Ion channels / Inositol triphosphate receptors"""	6181	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 48"""	600144	"""inositol 1,4,5-triphosphate receptor, type 2"""			8081734	Standard	XM_006719064		Approved	IP3R2, CFAP48	uc001rhg.3	Q14571	OTTHUMG00000169181	ENST00000381340.3:c.2578C>T	12.37:g.26808652G>A							p.L860L	NM_002223	NP_002214	Q14571	ITPR2_HUMAN			20	2995	-	Colorectal(261;0.0847)		860			Cytoplasmic (Potential).		O94773	Silent	SNP	ENST00000381340.3	37	c.2578C>T	CCDS41764.1																																																																																				0.313	ITPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402732.1	NM_002223		20	58	0	0	0	0	20	58				
SLC4A8	9498	broad.mit.edu	37	12	51883736	51883736	+	Splice_Site	SNP	G	G	A			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr12:51883736G>A	ENST00000453097.2	+	19	2917		c.e19+1		SLC4A8_ENST00000358657.3_Splice_Site	NM_001039960.2|NM_001258401.2	NP_001035049.1|NP_001245330.1			solute carrier family 4, sodium bicarbonate cotransporter, member 8											NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5)	55				BRCA - Breast invasive adenocarcinoma(357;0.15)		TATCTTAAAGGTAATCATCCT	0.468																																						uc001rys.1		NA																	0				ovary(3)|pancreas(1)|skin(1)	5						c.e19+1		solute carrier family 4, sodium bicarbonate							76.0	72.0	73.0					12																	51883736		2203	4300	6503	SO:0001630	splice_region_variant	9498				bicarbonate transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity	g.chr12:51883736G>A	AB018282	CCDS44890.1, CCDS58232.1, CCDS58233.1, CCDS73470.1	12q13.13	2013-05-22			ENSG00000050438	ENSG00000050438		"""Solute carriers"""	11034	protein-coding gene	gene with protein product		605024				11133997	Standard	NM_001039960		Approved	NBC3	uc001rys.2	Q2Y0W8	OTTHUMG00000169489	ENST00000453097.2:c.2700+1G>A	12.37:g.51883736G>A						SLC4A8_uc001rym.2_Splice_Site_p.K847_splice|SLC4A8_uc001ryn.2_Splice_Site_p.K847_splice|SLC4A8_uc001ryo.2_Splice_Site_p.K847_splice|SLC4A8_uc010snj.1_Splice_Site_p.K927_splice|SLC4A8_uc001ryr.2_Splice_Site_p.K900_splice	p.K900_splice	NM_001039960	NP_001035049	Q2Y0W8	S4A8_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.15)	19	2878	+									Splice_Site	SNP	ENST00000453097.2	37	c.2700_splice	CCDS44890.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.591237	0.86851	.	.	ENSG00000050438	ENST00000358657;ENST00000453097;ENST00000319957;ENST00000551071	.	.	.	5.32	5.32	0.75619	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.1419	0.89642	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SLC4A8	50170003	1.000000	0.71417	1.000000	0.80357	0.866000	0.49608	9.549000	0.98106	2.659000	0.90383	0.491000	0.48974	.		0.468	SLC4A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404356.1	NM_004858	Intron	10	64	0	0	0	0	10	64				
SMUG1	23583	broad.mit.edu	37	12	54576251	54576251	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr12:54576251G>T	ENST00000508394.2	-	3	504	c.442C>A	c.(442-444)Ctc>Atc	p.L148I	SMUG1_ENST00000514685.1_Intron|SMUG1_ENST00000506595.1_Intron|SMUG1_ENST00000514196.1_Intron|SMUG1_ENST00000505128.1_3'UTR|SMUG1_ENST00000401977.2_Missense_Mutation_p.L148I|SMUG1_ENST00000337581.3_Missense_Mutation_p.L148I|SMUG1_ENST00000513838.1_Intron|SMUG1_ENST00000505662.1_5'UTR|SMUG1_ENST00000243112.5_Intron	NM_001243787.1|NM_001243788.1|NM_014311.2	NP_001230716.1|NP_001230717.1|NP_055126.1	Q53HV7	SMUG1_HUMAN	single-strand-selective monofunctional uracil-DNA glycosylase 1	148				Missing (in Ref. 3; BAC03670). {ECO:0000305}.	base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|depyrimidination (GO:0045008)|DNA repair (GO:0006281)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA N-glycosylase activity (GO:0019104)|oxidized pyrimidine nucleobase lesion DNA N-glycosylase activity (GO:0000703)|single-strand selective uracil DNA N-glycosylase activity (GO:0017065)|uracil DNA N-glycosylase activity (GO:0004844)			kidney(1)|large_intestine(4)|lung(1)	6						TGTCCACAGAGGTTCCGGAAA	0.567								Base excision repair (BER), DNA glycosylases																														uc001sff.1		NA																	0					0						c.(442-444)CTC>ATC	BER_DNA_glycosylases	single-strand-selective monofunctional							82.0	82.0	82.0					12																	54576251		2203	4300	6503	SO:0001583	missense	23583				depyrimidination	nucleolus|nucleoplasm	DNA binding|protein binding|single-strand selective uracil DNA N-glycosylase activity	g.chr12:54576251G>T	AF125182	CCDS8874.1, CCDS58239.1	12q13.13	2013-10-28			ENSG00000123415	ENSG00000123415			17148	protein-coding gene	gene with protein product		607753				10074426, 11526119	Standard	NM_014311		Approved	UNG3, FDG, HMUDG	uc009znf.2	Q53HV7	OTTHUMG00000160068	ENST00000508394.2:c.442C>A	12.37:g.54576251G>T	ENSP00000424191:p.Leu148Ile					SMUG1_uc001sfa.1_5'Flank|SMUG1_uc001sfe.1_3'UTR|SMUG1_uc001sfg.1_Missense_Mutation_p.L148I|SMUG1_uc009znf.1_Missense_Mutation_p.L148I|SMUG1_uc001sfb.3_Intron|SMUG1_uc001sfc.3_Intron|SMUG1_uc001sfd.3_Intron	p.L148I	NM_014311	NP_055126	Q53HV7	SMUG1_HUMAN			4	571	-			148	Missing (in Ref. 3; BAC03670).				A8K2K9|O95862|Q0D2M0|Q8NB71|Q9BWC8	Missense_Mutation	SNP	ENST00000508394.2	37	c.442C>A	CCDS8874.1	.	.	.	.	.	.	.	.	.	.	G	17.01	3.279690	0.59758	.	.	ENSG00000123415	ENST00000337581;ENST00000508394;ENST00000401977;ENST00000504338	T;T;T;T	0.55588	0.51;0.51;0.51;0.94	4.86	4.86	0.63082	Uracil-DNA glycosylase-like (3);	0.000000	0.85682	D	0.000000	T	0.65026	0.2652	M	0.77486	2.375	0.80722	D	1	B	0.28552	0.215	B	0.42653	0.394	T	0.64373	-0.6423	10	0.34782	T	0.22	.	17.1702	0.86827	0.0:0.0:1.0:0.0	.	148	Q53HV7	SMUG1_HUMAN	I	148	ENSP00000338606:L148I;ENSP00000424191:L148I;ENSP00000384828:L148I;ENSP00000423083:L148I	ENSP00000338606:L148I	L	-	1	0	SMUG1	52862518	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.600000	0.67599	2.415000	0.81967	0.563000	0.77884	CTC		0.567	SMUG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359074.3	NM_014311		17	109	1	0	1.15e-07	1.49e-07	17	109				
TSPAN19	144448	broad.mit.edu	37	12	85421708	85421708	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr12:85421708A>G	ENST00000532498.2	-	4	313	c.233T>C	c.(232-234)aTt>aCt	p.I78T	TSPAN19_ENST00000547403.2_Intron	NM_001100917.1	NP_001094387.1	P0C672	TSN19_HUMAN	tetraspanin 19	78						integral component of membrane (GO:0016021)				ovary(1)	1						TTCGTTGTGAATTCCTATATA	0.299																																						uc009zsj.2		NA																	0				ovary(1)	1						c.(232-234)ATT>ACT		tetraspanin 19							67.0	62.0	63.0					12																	85421708		1821	4071	5892	SO:0001583	missense	144448					integral to membrane		g.chr12:85421708A>G		CCDS44949.1	12q21.31	2013-02-14			ENSG00000231738	ENSG00000231738		"""Tetraspanins"""	31886	protein-coding gene	gene with protein product							Standard	NM_001100917		Approved		uc009zsj.3	P0C672	OTTHUMG00000166181	ENST00000532498.2:c.233T>C	12.37:g.85421708A>G	ENSP00000433816:p.Ile78Thr						p.I78T	NM_001100917	NP_001094387	P0C672	TSN19_HUMAN			4	334	-			78			Helical; (Potential).			Missense_Mutation	SNP	ENST00000532498.2	37	c.233T>C	CCDS44949.1	.	.	.	.	.	.	.	.	.	.	A	10.86	1.470179	0.26423	.	.	ENSG00000231738	ENST00000532498;ENST00000547836	T;T	0.78364	-1.17;-1.17	4.39	3.21	0.36854	.	.	.	.	.	T	0.70422	0.3222	N	0.08118	0	0.24698	N	0.993276	D	0.55605	0.972	P	0.59703	0.862	T	0.59375	-0.7466	9	0.36615	T	0.2	.	8.1471	0.31119	0.7848:0.2152:0.0:0.0	.	78	P0C672	TSN19_HUMAN	T	78	ENSP00000433816:I78T;ENSP00000446898:I78T	ENSP00000433816:I78T	I	-	2	0	TSPAN19	83945839	0.784000	0.28713	0.960000	0.40013	0.084000	0.17831	1.095000	0.30964	0.770000	0.33336	0.528000	0.53228	ATT		0.299	TSPAN19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388240.2	NM_001100917		3	13	0	0	0	0	3	13				
TXNRD1	7296	broad.mit.edu	37	12	104725379	104725379	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr12:104725379A>G	ENST00000529546.1	+	11	1271	c.1046A>G	c.(1045-1047)gAg>gGg	p.E349G	TXNRD1_ENST00000525566.1_Missense_Mutation_p.E537G|TXNRD1_ENST00000354940.6_Missense_Mutation_p.E387G|TXNRD1_ENST00000397736.2_Missense_Mutation_p.E431G|TXNRD1_ENST00000526950.1_Missense_Mutation_p.E456G|TXNRD1_ENST00000524698.1_Missense_Mutation_p.E387G|TXNRD1_ENST00000378070.4_Missense_Mutation_p.E486G|TXNRD1_ENST00000388854.3_Missense_Mutation_p.E439G|TXNRD1_ENST00000542918.1_Missense_Mutation_p.E437G|TXNRD1_ENST00000540716.1_Missense_Mutation_p.E349G|TXNRD1_ENST00000503506.2_Missense_Mutation_p.E387G|TXNRD1_ENST00000429002.2_Missense_Mutation_p.E537G|TXNRD1_ENST00000526691.1_Missense_Mutation_p.E439G|TXNRD1_ENST00000526390.1_Missense_Mutation_p.E431G|TXNRD1_ENST00000427956.1_Missense_Mutation_p.E502G			Q16881	TRXR1_HUMAN	thioredoxin reductase 1	537					cell proliferation (GO:0008283)|cell redox homeostasis (GO:0045454)|cellular lipid metabolic process (GO:0044255)|mesoderm formation (GO:0001707)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|NADP binding (GO:0050661)|protein disulfide oxidoreductase activity (GO:0015035)|thioredoxin-disulfide reductase activity (GO:0004791)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	16					Arsenic trioxide(DB01169)|Flavin adenine dinucleotide(DB03147)	GGCCTTTCTGAGGAGAAAGCT	0.348																																					Ovarian(139;555 1836 9186 9946 10884)	uc010swk.1		NA																	0					0						c.(1609-1611)GAG>GGG		thioredoxin reductase 1 isoform 3							70.0	64.0	66.0					12																	104725379		1825	4082	5907	SO:0001583	missense	7296				cell redox homeostasis|cellular lipid metabolic process|electron transport chain|nucleobase, nucleoside and nucleotide interconversion|signal transduction|transport	cytosol|nucleolus	electron carrier activity|flavin adenine dinucleotide binding|NADP binding|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity	g.chr12:104725379A>G		CCDS53820.1, CCDS53821.1, CCDS53823.1, CCDS58274.1	12q23-q24.1	2012-03-01							12437	protein-coding gene	gene with protein product		601112				7589432	Standard	NM_001093771		Approved	TXNR, GRIM-12, Trxr1	uc021rcx.2	Q16881		ENST00000529546.1:c.1046A>G	12.37:g.104725379A>G	ENSP00000434919:p.Glu349Gly					TXNRD1_uc010swl.1_Missense_Mutation_p.E387G|TXNRD1_uc010swm.1_Missense_Mutation_p.E439G|TXNRD1_uc010swn.1_Missense_Mutation_p.E387G|TXNRD1_uc010swo.1_Missense_Mutation_p.E387G|TXNRD1_uc010swp.1_Missense_Mutation_p.E349G|TXNRD1_uc010swq.1_Missense_Mutation_p.E437G|TXNRD1_uc001tku.2_RNA|TXNRD1_uc009zun.2_Missense_Mutation_p.E453G	p.E537G	NM_001093771	NP_001087240	Q16881	TRXR1_HUMAN			14	1632	+			537					B7Z1F4|B7Z3Y8|B7Z904|E9PMY9|F5H780|Q6FI31|Q6VB40|Q6VB41|Q6VB42|Q6VBP2|Q6VBP3|Q6VBP4|Q6VBP5|Q6VBP9|Q6VBQ0|Q6YNQ1|Q76P53|Q7LA96|Q8WVC8|Q99475|Q9UES8|Q9UH79	Missense_Mutation	SNP	ENST00000529546.1	37	c.1610A>G	CCDS58274.1	.	.	.	.	.	.	.	.	.	.	A	28.0	4.879049	0.91740	.	.	ENSG00000198431	ENST00000525566;ENST00000429002;ENST00000503506;ENST00000526691;ENST00000388854;ENST00000354940;ENST00000526390;ENST00000529546;ENST00000540716;ENST00000524698;ENST00000542918;ENST00000378070;ENST00000397736;ENST00000427956;ENST00000526950	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.95656	-3.77;-3.77;-3.77;-3.77;-3.77;-3.77;-3.77;-3.77;-3.77;-3.77;-3.77;-3.77;-3.77;-3.77;-3.77	5.67	5.67	0.87782	FAD/NAD-linked reductase, dimerisation (1);Pyridine nucleotide-disulphide oxidoreductase, dimerisation (2);	0.000000	0.85682	D	0.000000	D	0.98507	0.9502	H	0.96142	3.775	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;0.999;1.0;0.999;0.999;0.999;0.999	D	0.99761	1.1021	10	0.87932	D	0	-33.965	15.9649	0.79961	1.0:0.0:0.0:0.0	.	437;431;537;439;387;537;502	B7Z2S5;E2QRB9;B7Z904;Q16881-4;B2R5P6;Q16881;E7EW10	.;.;.;.;.;TRXR1_HUMAN;.	G	537;537;387;439;439;387;431;349;349;387;437;486;431;502;456	ENSP00000434516:E537G;ENSP00000412045:E537G;ENSP00000421934:E387G;ENSP00000435929:E439G;ENSP00000373506:E439G;ENSP00000347020:E387G;ENSP00000435123:E431G;ENSP00000434919:E349G;ENSP00000442709:E349G;ENSP00000433425:E387G;ENSP00000440978:E437G;ENSP00000367310:E486G;ENSP00000380844:E431G;ENSP00000393328:E502G;ENSP00000432812:E456G	ENSP00000347020:E387G	E	+	2	0	TXNRD1	103249509	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.023000	0.93683	2.175000	0.68902	0.529000	0.55759	GAG		0.348	TXNRD1-004	PUTATIVE	basic|exp_conf|CCDS|seleno	protein_coding	protein_coding	OTTHUMT00000389969.1	NM_003330		4	22	0	0	0	0	4	22				
RFC5	5985	broad.mit.edu	37	12	118467588	118467588	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr12:118467588C>G	ENST00000454402.2	+	10	1002	c.884C>G	c.(883-885)tCt>tGt	p.S295C	RFC5_ENST00000392542.2_Missense_Mutation_p.S274C|RFC5_ENST00000543153.1_3'UTR|RFC5_ENST00000229043.3_Missense_Mutation_p.S210C	NM_001206801.1|NM_007370.5	NP_001193730.1|NP_031396.1	P40937	RFC5_HUMAN	replication factor C (activator 1) 5, 36.5kDa	295					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)|enzyme binding (GO:0019899)			NS(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(3)	9	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GACTTTCCATCTTCAGTTCGA	0.373																																						uc001twq.2		NA																	0					0						c.(883-885)TCT>TGT		replication factor C 5 isoform 1							261.0	235.0	244.0					12																	118467588		2203	4300	6503	SO:0001583	missense	5985				cell cycle checkpoint|DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|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|enzyme binding	g.chr12:118467588C>G		CCDS9185.1, CCDS41843.2	12q24.3	2010-04-21	2002-08-29		ENSG00000111445	ENSG00000111445		"""ATPases / AAA-type"""	9973	protein-coding gene	gene with protein product		600407	"""replication factor C (activator 1) 5 (36.5kD)"""			7774928	Standard	NM_007370		Approved	RFC36	uc001twq.3	P40937	OTTHUMG00000156438	ENST00000454402.2:c.884C>G	12.37:g.118467588C>G	ENSP00000408295:p.Ser295Cys					RFC5_uc010syx.1_Missense_Mutation_p.S274C|RFC5_uc010syy.1_Missense_Mutation_p.S274C|RFC5_uc010syz.1_Missense_Mutation_p.S210C|RFC5_uc009zwr.2_Missense_Mutation_p.S292C	p.S295C	NM_007370	NP_031396	P40937	RFC5_HUMAN			10	1009	+	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		295					A8MZ62|B3KSX8	Missense_Mutation	SNP	ENST00000454402.2	37	c.884C>G	CCDS9185.1	.	.	.	.	.	.	.	.	.	.	C	14.44	2.535599	0.45176	.	.	ENSG00000111445	ENST00000229043;ENST00000454402;ENST00000392542	T;T;T	0.45668	0.89;0.89;0.89	4.97	4.09	0.47781	Replication factor C (1);DNA polymerase III, clamp loader complex, gamma/delta/delta subunit, C-terminal (1);	0.241439	0.43260	D	0.000589	T	0.34542	0.0901	L	0.38175	1.15	0.39568	D	0.969235	B;B;B	0.13594	0.003;0.003;0.008	B;B;B	0.18263	0.021;0.021;0.021	T	0.28106	-1.0054	10	0.66056	D	0.02	-12.2103	12.6454	0.56731	0.0:0.9187:0.0:0.0813	.	274;306;295	A8MZ62;Q59GW7;P40937	.;.;RFC5_HUMAN	C	210;295;274	ENSP00000229043:S210C;ENSP00000408295:S295C;ENSP00000376325:S274C	ENSP00000229043:S210C	S	+	2	0	RFC5	116951971	0.974000	0.33945	0.985000	0.45067	0.997000	0.91878	5.541000	0.67212	1.459000	0.47892	0.655000	0.94253	TCT		0.373	RFC5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344196.2	NM_007370		20	101	0	0	0	0	20	101				
CLIP1	6249	broad.mit.edu	37	12	122839067	122839067	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr12:122839067G>A	ENST00000540338.1	-	6	1281	c.1240C>T	c.(1240-1242)Cga>Tga	p.R414*	CLIP1_ENST00000358808.2_Nonsense_Mutation_p.R414*|CLIP1_ENST00000302528.7_Nonsense_Mutation_p.R414*|CLIP1_ENST00000361654.4_Nonsense_Mutation_p.R414*|CLIP1_ENST00000545889.1_Nonsense_Mutation_p.R115*|CLIP1_ENST00000537178.1_Nonsense_Mutation_p.R414*			P30622	CLIP1_HUMAN	CAP-GLY domain containing linker protein 1	414					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)		ACCATTGTTCGCAGCTGGTCC	0.507																																						uc001ucg.1		NA																	0				ovary(2)|breast(1)	3						c.(1240-1242)CGA>TGA		restin isoform a							129.0	105.0	113.0					12																	122839067		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.chr12:122839067G>A		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.1240C>T	12.37:g.122839067G>A	ENSP00000439093:p.Arg414*					CLIP1_uc001uch.1_Nonsense_Mutation_p.R414*|CLIP1_uc001uci.1_Nonsense_Mutation_p.R414*|CLIP1_uc001ucj.1_Nonsense_Mutation_p.R115*|CLIP1_uc009zxo.1_Nonsense_Mutation_p.R5*|CLIP1_uc010tae.1_Nonsense_Mutation_p.R348*	p.R414*	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)	6	1346	-	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		414			Potential.		A0AVD3|Q17RS4|Q29RG0	Nonsense_Mutation	SNP	ENST00000540338.1	37	c.1240C>T	CCDS58285.1	.	.	.	.	.	.	.	.	.	.	G	39	7.662906	0.98419	.	.	ENSG00000130779	ENST00000545889;ENST00000302528;ENST00000358808;ENST00000542885;ENST00000537178;ENST00000540338;ENST00000540304;ENST00000537004	.	.	.	5.84	4.95	0.65309	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.3582	16.4721	0.84114	0.0:0.0:0.8678:0.1322	.	.	.	.	X	115;414;414;259;414;414;348;348	.	ENSP00000303585:R414X	R	-	1	2	CLIP1	121405020	1.000000	0.71417	0.947000	0.38551	0.970000	0.65996	8.011000	0.88624	1.472000	0.48140	-0.152000	0.13540	CGA		0.507	CLIP1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000401625.1	NM_002956		12	60	0	0	0	0	12	60				
FRY	10129	broad.mit.edu	37	13	32798468	32798468	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr13:32798468C>A	ENST00000380250.3	+	37	5358	c.4862C>A	c.(4861-4863)gCc>gAc	p.A1621D		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	1621						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		GGATGCTGGGCCCCCCTGGTT	0.572																																						uc001utx.2		NA																	0				ovary(5)|large_intestine(1)|skin(1)	7						c.(4861-4863)GCC>GAC		furry homolog							61.0	65.0	64.0					13																	32798468		1904	4110	6014	SO:0001583	missense	10129				regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane		g.chr13:32798468C>A	AL049784	CCDS41875.1	13q13.1	2008-02-05	2005-11-24	2005-11-24	ENSG00000073910	ENSG00000073910			20367	protein-coding gene	gene with protein product		614818	"""chromosome 13 open reading frame 14"""	C13orf14		14702039, 8812419	Standard	NM_023037		Approved	bA37E23.1, 13CDNA73, CG003	uc001utx.3	Q5TBA9	OTTHUMG00000016696	ENST00000380250.3:c.4862C>A	13.37:g.32798468C>A	ENSP00000369600:p.Ala1621Asp					FRY_uc010tdw.1_RNA	p.A1621D	NM_023037	NP_075463	Q5TBA9	FRY_HUMAN		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)	37	5358	+		Lung SC(185;0.0271)	1621					Q9Y3N6	Missense_Mutation	SNP	ENST00000380250.3	37	c.4862C>A	CCDS41875.1	.	.	.	.	.	.	.	.	.	.	C	35	5.446282	0.96187	.	.	ENSG00000073910	ENST00000380250;ENST00000380257	T	0.38722	1.12	5.44	5.44	0.79542	.	0.056430	0.64402	D	0.000001	T	0.60547	0.2277	L	0.60455	1.87	0.80722	D	1	D	0.62365	0.991	P	0.61477	0.889	T	0.62553	-0.6830	10	0.72032	D	0.01	.	19.2474	0.93908	0.0:1.0:0.0:0.0	.	1621	Q5TBA9	FRY_HUMAN	D	1621;458	ENSP00000369600:A1621D	ENSP00000369600:A1621D	A	+	2	0	FRY	31696468	1.000000	0.71417	0.998000	0.56505	0.975000	0.68041	5.748000	0.68697	2.553000	0.86117	0.411000	0.27672	GCC		0.572	FRY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044405.1	NM_023037		26	68	1	0	2.45e-14	3.32e-14	26	68				
ING1	3621	broad.mit.edu	37	13	111371619	111371619	+	Silent	SNP	C	C	T			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr13:111371619C>T	ENST00000375774.3	+	2	1071	c.609C>T	c.(607-609)cgC>cgT	p.R203R	ING1_ENST00000338450.7_Silent_p.R16R|ING1_ENST00000333219.7_Silent_p.R60R|ING1_ENST00000464141.1_3'UTR|ING1_ENST00000375775.3_5'UTR	NM_005537.4	NP_005528.3	Q9UK53	ING1_HUMAN	inhibitor of growth family, member 1	203					cell cycle (GO:0007049)|chromatin modification (GO:0016568)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|regulation of cell death (GO:0010941)	nucleus (GO:0005634)	methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			endometrium(4)|large_intestine(6)|lung(1)|ovary(1)	12	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		BRCA - Breast invasive adenocarcinoma(86;0.188)			GCTTCAGTCGCGAGACAGACG	0.647																																						uc001vri.2		NA																	0				ovary(1)	1						c.(607-609)CGC>CGT		inhibitor of growth family, member 1 isoform D							48.0	51.0	50.0					13																	111371619		2200	4295	6495	SO:0001819	synonymous_variant	3621				cell cycle|negative regulation of cell growth|negative regulation of cell proliferation	nucleus	zinc ion binding	g.chr13:111371619C>T		CCDS9515.1, CCDS9516.1, CCDS9517.1, CCDS9518.1	13q34	2013-01-28			ENSG00000153487	ENSG00000153487		"""Zinc fingers, PHD-type"""	6062	protein-coding gene	gene with protein product	"""inhibitor of growth 1"", ""tumor suppressor ING1"", ""growth inhibitor ING1"", ""growth inhibitory protein ING1"""	601566				8944021, 9186514	Standard	NM_198219		Approved	p33ING1, p33ING1b, p24ING1c, p33, p47, p47ING1a	uc001vri.3	Q9UK53	OTTHUMG00000017346	ENST00000375774.3:c.609C>T	13.37:g.111371619C>T						ING1_uc001vrf.2_Silent_p.R16R|ING1_uc001vrg.2_5'UTR|ING1_uc001vrh.2_Silent_p.R60R	p.R203R	NM_005537	NP_005528	Q9UK53	ING1_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.188)		2	1041	+	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		203					O00532|O43658|Q53ZR3|Q5T9G8|Q5T9G9|Q5T9H0|Q5T9H1|Q9H007|Q9HD98|Q9HD99|Q9NS83|Q9P0U6|Q9UBC6|Q9UIJ1|Q9UIJ2|Q9UIJ3|Q9UIJ4|Q9UK52	Silent	SNP	ENST00000375774.3	37	c.609C>T	CCDS9517.1																																																																																				0.647	ING1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000045770.2	NM_005537		13	91	0	0	0	0	13	91				
DHRS7	51635	broad.mit.edu	37	14	60622827	60622827	+	Silent	SNP	C	C	T			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr14:60622827C>T	ENST00000216500.5	-	3	632	c.177G>A	c.(175-177)tcG>tcA	p.S59S	DHRS7_ENST00000536410.2_Silent_p.S9S|DHRS7_ENST00000553986.1_5'Flank|PCNXL4_ENST00000553898.1_Intron|DHRS7_ENST00000557185.1_Silent_p.S59S|PCNXL4_ENST00000406949.1_Intron			Q9Y394	DHRS7_HUMAN	dehydrogenase/reductase (SDR family) member 7	59						membrane (GO:0016020)	oxidoreductase activity (GO:0016491)			endometrium(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	5				OV - Ovarian serous cystadenocarcinoma(108;0.121)		CAATTCCACTCGAGGCTCCAG	0.448																																						uc001xes.2		NA																	0				ovary(1)	1						c.(175-177)TCG>TCA		dehydrogenase/reductase (SDR family) member 7							105.0	99.0	101.0					14																	60622827		2203	4300	6503	SO:0001819	synonymous_variant	51635						binding|oxidoreductase activity	g.chr14:60622827C>T	AF151844	CCDS9743.1	14q23.1	2011-09-20			ENSG00000100612	ENSG00000100612		"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"""	21524	protein-coding gene	gene with protein product	"""retinal short-chain dehydrogenase/reductase 4"", ""short chain dehydrogenase/reductase family 34C, member 1"""	612833				10800688, 10810093, 19027726	Standard	NM_016029		Approved	retDSR4, SDR34C1	uc001xes.3	Q9Y394	OTTHUMG00000140331	ENST00000216500.5:c.177G>A	14.37:g.60622827C>T						C14orf135_uc001xeq.2_Intron|DHRS7_uc001xet.2_Silent_p.S9S|DHRS7_uc001xeu.2_Silent_p.S59S	p.S59S	NM_016029	NP_057113	Q9Y394	DHRS7_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.121)	2	361	-			59			NAD (By similarity).		B2R896|Q9UKU2	Silent	SNP	ENST00000216500.5	37	c.177G>A	CCDS9743.1	.	.	.	.	.	.	.	.	.	.	c	7.808	0.715166	0.15306	.	.	ENSG00000100612	ENST00000554101;ENST00000557137	.	.	.	5.58	-11.2	0.00127	.	.	.	.	.	T	0.56949	0.2020	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.71718	-0.4508	4	.	.	.	.	13.7031	0.62622	0.0:0.222:0.5542:0.2238	.	.	.	.	Q	54;59	.	.	R	-	2	0	DHRS7	59692580	0.001000	0.12720	0.110000	0.21437	0.909000	0.53808	-3.032000	0.00637	-3.024000	0.00268	-1.551000	0.00897	CGA		0.448	DHRS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276947.2	NM_016029		10	86	0	0	0	0	10	86				
CILP	8483	broad.mit.edu	37	15	65490732	65490732	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr15:65490732T>C	ENST00000261883.4	-	9	2058	c.1892A>G	c.(1891-1893)aAt>aGt	p.N631S		NM_003613.3	NP_003604	O75339	CILP1_HUMAN	cartilage intermediate layer protein, nucleotide pyrophosphohydrolase	631					negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)	extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	55						TGTGGAAATATTCCGGGGATC	0.517																																						uc002aon.2		NA																	0				ovary(4)|pancreas(2)|skin(1)	7						c.(1891-1893)AAT>AGT		cartilage intermediate layer protein							158.0	156.0	157.0					15																	65490732		2202	4299	6501	SO:0001583	missense	8483				negative regulation of insulin-like growth factor receptor signaling pathway	extracellular matrix part|extracellular space|proteinaceous extracellular matrix		g.chr15:65490732T>C	AY358904	CCDS10203.1	15q22	2013-01-14			ENSG00000138615	ENSG00000138615		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1980	protein-coding gene	gene with protein product		603489				9722584, 9722583	Standard	NM_003613		Approved	HsT18872	uc002aon.2	O75339	OTTHUMG00000133140	ENST00000261883.4:c.1892A>G	15.37:g.65490732T>C	ENSP00000261883:p.Asn631Ser						p.N631S	NM_003613	NP_003604	O75339	CILP1_HUMAN			9	2073	-			631					B2R8F7|Q6UW99|Q8IYI5	Missense_Mutation	SNP	ENST00000261883.4	37	c.1892A>G	CCDS10203.1	.	.	.	.	.	.	.	.	.	.	T	10.64	1.407307	0.25378	.	.	ENSG00000138615	ENST00000261883	T	0.40756	1.02	5.63	4.49	0.54785	.	0.252926	0.47093	D	0.000250	T	0.38321	0.1036	L	0.55990	1.75	0.09310	N	0.999992	B	0.29085	0.232	B	0.26864	0.074	T	0.36601	-0.9741	10	0.72032	D	0.01	-11.7294	11.3819	0.49763	0.1355:0.0:0.0:0.8645	.	631	O75339	CILP1_HUMAN	S	631	ENSP00000261883:N631S	ENSP00000261883:N631S	N	-	2	0	CILP	63277785	0.999000	0.42202	0.416000	0.26546	0.996000	0.88848	5.001000	0.63946	0.946000	0.37632	0.533000	0.62120	AAT		0.517	CILP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256829.1	NM_003613		51	124	0	0	0	0	51	124				
REC114	283677	broad.mit.edu	37	15	73766183	73766183	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr15:73766183C>G	ENST00000331090.6	+	2	198	c.170C>G	c.(169-171)tCc>tGc	p.S57C	C15orf60_ENST00000560581.1_Missense_Mutation_p.S57C	NM_001042367.1	NP_001035826.1	Q7Z4M0	RE114_HUMAN		57					DNA recombination (GO:0006310)|meiotic nuclear division (GO:0007126)					endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|pancreas(1)|prostate(2)	17						GTTTTTGATTCCAATGAAGAA	0.323																																						uc002avq.2		NA																	0				pancreas(1)	1						c.(169-171)TCC>TGC		hypothetical protein LOC283677							87.0	76.0	80.0					15																	73766183		1807	4057	5864	SO:0001583	missense	283677							g.chr15:73766183C>G																												ENST00000331090.6:c.170C>G	15.37:g.73766183C>G	ENSP00000328423:p.Ser57Cys					C15orf60_uc010bjb.2_Missense_Mutation_p.S57C	p.S57C	NM_001042367	NP_001035826	Q7Z4M0	CO060_HUMAN			2	198	+			57						Missense_Mutation	SNP	ENST00000331090.6	37	c.170C>G	CCDS45296.1	.	.	.	.	.	.	.	.	.	.	C	18.72	3.684343	0.68157	.	.	ENSG00000183324	ENST00000331090	T	0.63744	-0.06	5.69	5.69	0.88448	.	0.144441	0.47852	D	0.000219	T	0.77110	0.4082	M	0.66939	2.045	0.39240	D	0.963835	D	0.89917	1.0	D	0.72075	0.976	T	0.79967	-0.1580	10	0.72032	D	0.01	-9.4336	15.3149	0.74065	0.0:1.0:0.0:0.0	.	57	Q7Z4M0	CO060_HUMAN	C	57	ENSP00000328423:S57C	ENSP00000328423:S57C	S	+	2	0	C15orf60	71553236	1.000000	0.71417	0.997000	0.53966	0.936000	0.57629	4.486000	0.60286	2.687000	0.91594	0.650000	0.86243	TCC		0.323	C15orf60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419069.1			5	6	0	0	0	0	5	6				
CSPG4	1464	broad.mit.edu	37	15	75981392	75981392	+	Nonsense_Mutation	SNP	G	G	A	rs368004567		TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr15:75981392G>A	ENST00000308508.5	-	3	2106	c.2014C>T	c.(2014-2016)Cga>Tga	p.R672*		NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	672	Gly/Ser-rich (glycosaminoglycan attachment domain).|Interaction with COL5A1. {ECO:0000250}.|Interaction with COL6A2. {ECO:0000250}.				activation of MAPK activity (GO:0000187)|angiogenesis (GO:0001525)|carbohydrate metabolic process (GO:0005975)|cell proliferation (GO:0008283)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|intracellular signal transduction (GO:0035556)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|small molecule metabolic process (GO:0044281)|tissue remodeling (GO:0048771)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell projection (GO:0042995)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						TGGGCCAGTCGCAACCCTGTG	0.672																																						uc002baw.2		NA																	0				ovary(2)|pancreas(1)	3						c.(2014-2016)CGA>TGA		chondroitin sulfate proteoglycan 4 precursor		G	stop/ARG	0,4392		0,0,2196	55.0	54.0	55.0		2014	2.6	0.8	15		55	1,8583		0,1,4291	no	stop-gained	CSPG4	NM_001897.4		0,1,6487	AA,AG,GG		0.0116,0.0,0.0077		672/2323	75981392	1,12975	2196	4292	6488	SO:0001587	stop_gained	1464				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity	g.chr15:75981392G>A	X96753, AY359468	CCDS10284.1	15q24.2	2010-04-19	2007-02-16		ENSG00000173546	ENSG00000173546		"""Proteoglycans / Cell surface : Other"""	2466	protein-coding gene	gene with protein product	"""melanoma-associated chondroitin sulfate proteoglycan"""	601172	"""chondroitin sulfate proteoglycan 4 (melanoma-associated)"""			8790396, 16407841	Standard	NM_001897		Approved	MCSPG, MEL-CSPG, MSK16, NG2, MCSP, HMW-MAA	uc002baw.3	Q6UVK1	OTTHUMG00000142836	ENST00000308508.5:c.2014C>T	15.37:g.75981392G>A	ENSP00000312506:p.Arg672*						p.R672*	NM_001897	NP_001888	Q6UVK1	CSPG4_HUMAN			3	2107	-			672			CSPG 3.|Extracellular (Potential).|Gly/Ser-rich (glycosaminoglycan attachment domain).|Interaction with COL5A1 (By similarity).|Interaction with COL6A2 (By similarity).		D3DW77|Q92675	Nonsense_Mutation	SNP	ENST00000308508.5	37	c.2014C>T	CCDS10284.1	.	.	.	.	.	.	.	.	.	.	.	19.11	3.763423	0.69763	0.0	1.16E-4	ENSG00000173546	ENST00000308508	.	.	.	5.48	2.58	0.30949	.	1.335500	0.04496	N	0.380368	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15066	T	0.55	.	1.4777	0.02429	0.2626:0.1446:0.444:0.1488	.	.	.	.	X	672	.	ENSP00000312506:R672X	R	-	1	2	CSPG4	73768447	0.000000	0.05858	0.793000	0.32043	0.003000	0.03518	-0.076000	0.11412	1.320000	0.45209	-0.133000	0.14855	CGA		0.672	CSPG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286472.1	NM_001897		13	86	0	0	0	0	13	86				
PEX11A	8800	broad.mit.edu	37	15	90226795	90226795	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr15:90226795C>T	ENST00000300056.3	-	3	706	c.557G>A	c.(556-558)cGa>cAa	p.R186Q	PEX11A_ENST00000557982.1_Intron|PEX11A_ENST00000559170.1_3'UTR|PEX11A_ENST00000561224.1_Intron|PEX11A_ENST00000561257.1_Missense_Mutation_p.R155Q	NM_001271573.1	NP_001258502.1	O75192	PX11A_HUMAN	peroxisomal biogenesis factor 11 alpha	186					brown fat cell differentiation (GO:0050873)|cellular lipid metabolic process (GO:0044255)|peroxisome fission (GO:0016559)|peroxisome membrane biogenesis (GO:0016557)|peroxisome organization (GO:0007031)|regulation of peroxisome size (GO:0044375)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	integral component of peroxisomal membrane (GO:0005779)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)|protein complex (GO:0043234)	protein homodimerization activity (GO:0042803)			endometrium(2)|large_intestine(2)|lung(3)	7	Lung NSC(78;0.0237)|all_lung(78;0.0478)		KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|BRCA - Breast invasive adenocarcinoma(143;0.128)			CTTCAGAGATCGGAATAAAAG	0.473																																						uc002boi.2		NA																	0					0						c.(556-558)CGA>CAA		peroxisomal biogenesis factor 11 alpha							231.0	237.0	235.0					15																	90226795		2200	4299	6499	SO:0001583	missense	8800				cellular lipid metabolic process|peroxisome fission|signal transduction	integral to peroxisomal membrane		g.chr15:90226795C>T	AF093668	CCDS10354.1, CCDS61751.1	15q	2008-08-26	2008-08-26		ENSG00000166821	ENSG00000166821			8852	protein-coding gene	gene with protein product		603866	"""peroxisomal biogenesis factor 11A"""			9792670	Standard	NM_003847		Approved	PEX11-ALPHA, MGC119947, MGC138534	uc002boi.4	O75192	OTTHUMG00000149809	ENST00000300056.3:c.557G>A	15.37:g.90226795C>T	ENSP00000300056:p.Arg186Gln					PEX11A_uc010upy.1_RNA	p.R186Q	NM_003847	NP_003838	O75192	PX11A_HUMAN	KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|BRCA - Breast invasive adenocarcinoma(143;0.128)		3	652	-	Lung NSC(78;0.0237)|all_lung(78;0.0478)		186			Lumenal (Potential).		B4DV88	Missense_Mutation	SNP	ENST00000300056.3	37	c.557G>A	CCDS10354.1	.	.	.	.	.	.	.	.	.	.	C	2.527	-0.309399	0.05458	.	.	ENSG00000166821	ENST00000300056	T	0.40476	1.03	5.75	1.57	0.23409	.	0.588817	0.18257	N	0.146746	T	0.27313	0.0670	L	0.39245	1.2	0.24817	N	0.9926	B	0.16396	0.017	B	0.13407	0.009	T	0.18587	-1.0332	10	0.21540	T	0.41	5.0E-4	4.7293	0.12957	0.1411:0.4266:0.0:0.4323	.	186	O75192	PX11A_HUMAN	Q	186	ENSP00000300056:R186Q	ENSP00000300056:R186Q	R	-	2	0	PEX11A	88027799	0.031000	0.19500	0.032000	0.17829	0.061000	0.15899	0.233000	0.17911	0.031000	0.15407	-0.150000	0.13652	CGA		0.473	PEX11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313420.1	NM_003847		40	232	0	0	0	0	40	232				
USP31	57478	broad.mit.edu	37	16	23117561	23117561	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr16:23117561G>A	ENST00000219689.7	-	4	925	c.926C>T	c.(925-927)tCt>tTt	p.S309F		NM_020718.3	NP_065769.3	Q86UV5	UBP48_HUMAN	ubiquitin specific peptidase 31	240	USP.				ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ubiquitin-specific protease activity (GO:0004843)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	57				GBM - Glioblastoma multiforme(48;0.0187)		AATTGGCAAAGAAATGCAAAG	0.383																																						uc002dll.2		NA																	0				ovary(3)|lung(3)|breast(2)|pancreas(1)|skin(1)	10						c.(925-927)TCT>TTT		ubiquitin specific peptidase 31							106.0	108.0	107.0					16																	23117561		2197	4300	6497	SO:0001583	missense	57478				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr16:23117561G>A	AB033029	CCDS10607.1	16p12.3	2008-02-05	2005-08-08		ENSG00000103404	ENSG00000103404		"""Ubiquitin-specific peptidases"""	20060	protein-coding gene	gene with protein product			"""ubiquitin specific protease 31"""			12838346	Standard	NM_020718		Approved	KIAA1203	uc002dll.3	Q70CQ4	OTTHUMG00000094793	ENST00000219689.7:c.926C>T	16.37:g.23117561G>A	ENSP00000219689:p.Ser309Phe						p.S309F	NM_020718	NP_065769	Q70CQ4	UBP31_HUMAN		GBM - Glioblastoma multiforme(48;0.0187)	4	926	-			309					B7ZKS7|Q2M3I4|Q5SZI4|Q5T3T5|Q6NX53|Q8N3F6|Q96F64|Q96IQ3|Q9H5N3|Q9H5T7|Q9NUJ6|Q9NXR0	Missense_Mutation	SNP	ENST00000219689.7	37	c.926C>T	CCDS10607.1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.842371	0.91197	.	.	ENSG00000103404	ENST00000219689	T	0.03801	3.8	5.82	5.82	0.92795	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.553018	0.18546	N	0.138050	T	0.31796	0.0808	M	0.90977	3.165	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	T	0.13150	-1.0520	10	0.87932	D	0	-14.1436	19.0872	0.93209	0.0:0.0:1.0:0.0	.	309	Q70CQ4	UBP31_HUMAN	F	309	ENSP00000219689:S309F	ENSP00000219689:S309F	S	-	2	0	USP31	23025062	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.414000	0.97362	2.752000	0.94435	0.655000	0.94253	TCT		0.383	USP31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211607.1	NM_020718		6	42	0	0	0	0	6	42				
CDYL2	124359	broad.mit.edu	37	16	80654799	80654799	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr16:80654799C>T	ENST00000570137.2	-	4	1023	c.868G>A	c.(868-870)Gca>Aca	p.A290T	CDYL2_ENST00000566173.1_Missense_Mutation_p.A291T|CDYL2_ENST00000563890.1_Missense_Mutation_p.A291T|CDYL2_ENST00000562812.1_Missense_Mutation_p.A291T	NM_152342.2	NP_689555.2	Q8N8U2	CDYL2_HUMAN	chromodomain protein, Y-like 2	290						nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	21						TCTGTGGCTGCGTTGCAGAGC	0.557																																						uc002ffs.2		NA																	0				central_nervous_system(1)	1						c.(868-870)GCA>ACA		chromodomain protein, Y-like 2							51.0	45.0	47.0					16																	80654799		2203	4300	6503	SO:0001583	missense	124359					nucleus	catalytic activity|protein binding	g.chr16:80654799C>T	AK096185	CCDS32493.1	16q23.2	2008-02-05	2003-09-12			ENSG00000166446			23030	protein-coding gene	gene with protein product			"""chromodomain Y-like protein 2"""			12837688	Standard	NM_152342		Approved	FLJ38866	uc002ffs.3	Q8N8U2		ENST00000570137.2:c.868G>A	16.37:g.80654799C>T	ENSP00000476295:p.Ala290Thr						p.A290T	NM_152342	NP_689555	Q8N8U2	CDYL2_HUMAN			4	973	-			290					Q7Z5I8	Missense_Mutation	SNP	ENST00000570137.2	37	c.868G>A	CCDS32493.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.674159	0.88445	.	.	ENSG00000166446	ENST00000299564	T	0.69685	-0.42	5.29	5.29	0.74685	Crotonase, core (1);	0.116085	0.64402	D	0.000018	T	0.80144	0.4569	M	0.74258	2.255	0.80722	D	1	D	0.63880	0.993	P	0.60117	0.869	T	0.82281	-0.0535	10	0.87932	D	0	.	18.0955	0.89488	0.0:1.0:0.0:0.0	.	290	Q8N8U2	CDYL2_HUMAN	T	290	ENSP00000299564:A290T	ENSP00000299564:A290T	A	-	1	0	CDYL2	79212300	1.000000	0.71417	0.603000	0.28903	0.678000	0.39670	7.651000	0.83577	2.741000	0.93983	0.655000	0.94253	GCA		0.557	CDYL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434727.2	NM_152342		9	40	0	0	0	0	9	40				
PELP1	27043	broad.mit.edu	37	17	4594214	4594214	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr17:4594214G>C	ENST00000574876.1	-	3	406	c.389C>G	c.(388-390)tCt>tGt	p.S130C	PELP1_ENST00000301396.4_Missense_Mutation_p.S130C|PELP1_ENST00000572293.1_Missense_Mutation_p.S180C|PELP1_ENST00000570823.1_5'UTR|AC091153.4_ENST00000441700.2_RNA|PELP1_ENST00000436683.2_5'UTR|PELP1_ENST00000269230.7_Missense_Mutation_p.S130C			Q8IZL8	PELP1_HUMAN	proline, glutamate and leucine rich protein 1	130					cellular response to estrogen stimulus (GO:0071391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|MLL1 complex (GO:0071339)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcriptionally active chromatin (GO:0035327)	chromatin binding (GO:0003682)|poly(A) RNA binding (GO:0044822)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	15						CCGAAGCCAAGACACACAGTG	0.537																																						uc002fyi.3		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(388-390)TCT>TGT		proline, glutamic acid and leucine rich protein							72.0	72.0	72.0					17																	4594214		1993	4165	6158	SO:0001583	missense	27043				transcription, DNA-dependent	cytoplasm|MLL1 complex	protein binding	g.chr17:4594214G>C		CCDS58503.1, CCDS58503.2, CCDS62038.1	17p13.2	2012-05-02	2008-02-21			ENSG00000141456			30134	protein-coding gene	gene with protein product		609455	"""proline, glutamic acid and leucine rich protein 1"""			11481323, 12682072	Standard	NM_014389		Approved	MNAR	uc002fyi.4	Q8IZL8		ENST00000574876.1:c.389C>G	17.37:g.4594214G>C	ENSP00000461625:p.Ser130Cys					PELP1_uc010vsf.1_5'UTR	p.S130C	NM_014389	NP_055204	Q8IZL8	PELP1_HUMAN			3	615	-			130					O15450|Q5EGN3|Q6NTE6|Q96FT1|Q9BU60	Missense_Mutation	SNP	ENST00000574876.1	37	c.389C>G	CCDS58503.1	.	.	.	.	.	.	.	.	.	.	G	13.02	2.112437	0.37242	.	.	ENSG00000141456	ENST00000301396;ENST00000269230	T;T	0.69561	-0.41;-0.27	5.04	5.04	0.67666	.	0.225135	0.35870	N	0.002937	T	0.72581	0.3478	L	0.29908	0.895	0.80722	D	1	D	0.76494	0.999	D	0.72982	0.979	T	0.73582	-0.3937	10	0.49607	T	0.09	-20.1025	15.9204	0.79562	0.0:0.0:1.0:0.0	.	130	Q8IZL8	PELP1_HUMAN	C	130	ENSP00000301396:S130C;ENSP00000269230:S130C	ENSP00000269230:S130C	S	-	2	0	AC091153.1	4540963	0.996000	0.38824	0.974000	0.42286	0.977000	0.68977	4.104000	0.57790	2.609000	0.88269	0.563000	0.77884	TCT		0.537	PELP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000439140.2	NM_014389		12	53	0	0	0	0	12	53				
DNAH9	1770	broad.mit.edu	37	17	11572997	11572997	+	Missense_Mutation	SNP	T	T	G			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr17:11572997T>G	ENST00000262442.4	+	17	3307	c.3239T>G	c.(3238-3240)gTg>gGg	p.V1080G	DNAH9_ENST00000454412.2_Missense_Mutation_p.V1080G	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	1080	Stem. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CCCATCAAGGTGTTTGACGGC	0.468																																						uc002gne.2		NA																	0				skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1)	20						c.(3238-3240)GTG>GGG		dynein, axonemal, heavy chain 9 isoform 2							138.0	142.0	140.0					17																	11572997		2203	4300	6503	SO:0001583	missense	1770				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:11572997T>G	U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.3239T>G	17.37:g.11572997T>G	ENSP00000262442:p.Val1080Gly					DNAH9_uc010coo.2_Missense_Mutation_p.V374G	p.V1080G	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	17	3307	+		Breast(5;0.0122)|all_epithelial(5;0.131)	1080			Stem (By similarity).		A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	37	c.3239T>G	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	T	14.69	2.610924	0.46631	.	.	ENSG00000007174	ENST00000262442;ENST00000454412	T;T	0.26810	1.75;1.71	4.82	3.74	0.42951	.	0.226096	0.33959	N	0.004389	T	0.37073	0.0990	M	0.83223	2.63	0.39927	D	0.974231	P	0.41910	0.764	P	0.45856	0.495	T	0.24941	-1.0146	10	0.41790	T	0.15	.	9.4915	0.38962	0.0:0.1512:0.0:0.8488	.	1080	Q9NYC9	DYH9_HUMAN	G	1080	ENSP00000262442:V1080G;ENSP00000414874:V1080G	ENSP00000262442:V1080G	V	+	2	0	DNAH9	11513722	0.993000	0.37304	0.626000	0.29213	0.452000	0.32318	4.235000	0.58666	0.780000	0.33566	0.533000	0.62120	GTG		0.468	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		21	150	0	0	0	0	21	150				
NF1	4763	broad.mit.edu	37	17	29586061	29586061	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr17:29586061T>A	ENST00000358273.4	+	33	4727	c.4344T>A	c.(4342-4344)agT>agA	p.S1448R	NF1_ENST00000356175.3_Missense_Mutation_p.S1427R	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	1448	Ras-GAP. {ECO:0000255|PROSITE- ProRule:PRU00167}.				actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(5)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		TACTTCAGAGTATTGCCAATC	0.313			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																												uc002hgg.2		NA	yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	D|Mis|N|F|S|O	neurofibromatosis type 1 gene			O		neurofibroma|glioma	neurofibroma|glioma		13	Whole gene deletion(8)|Unknown(5)	p.?(3)	soft_tissue(7)|autonomic_ganglia(3)|central_nervous_system(2)|lung(1)	soft_tissue(159)|central_nervous_system(56)|lung(28)|large_intestine(27)|haematopoietic_and_lymphoid_tissue(18)|ovary(18)|autonomic_ganglia(12)|breast(3)|skin(3)|stomach(2)|thyroid(1)|prostate(1)|kidney(1)|pancreas(1)	330	GRCh37	CI086452	NF1	I		c.(4342-4344)AGT>AGA		neurofibromin isoform 1							41.0	36.0	38.0					17																	29586061		2202	4298	6500	SO:0001583	missense	4763	Neurofibromatosis_type_1	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	g.chr17:29586061T>A		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"""neurofibromatosis"", ""von Recklinghausen disease"", ""Watson disease"""	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.4344T>A	17.37:g.29586061T>A	ENSP00000351015:p.Ser1448Arg	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				NF1_uc002hgh.2_Missense_Mutation_p.S1427R|NF1_uc002hgi.1_Missense_Mutation_p.S460R	p.S1448R	NM_001042492	NP_001035957	P21359	NF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)	33	4677	+		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)	1448			Ras-GAP.		O00662|Q14284|Q14930|Q14931|Q9UMK3	Missense_Mutation	SNP	ENST00000358273.4	37	c.4344T>A	CCDS42292.1	.	.	.	.	.	.	.	.	.	.	T	19.21	3.784218	0.70222	.	.	ENSG00000196712	ENST00000358273;ENST00000356175;ENST00000456735	T;T;T	0.80566	-1.39;-1.39;-1.39	5.78	3.55	0.40652	Rho GTPase activation protein (1);Armadillo-type fold (1);Ras GTPase-activating protein (4);	0.040409	0.85682	D	0.000000	D	0.83422	0.5251	L	0.45137	1.4	0.80722	D	1	B;D;P	0.64830	0.404;0.994;0.67	B;D;P	0.74348	0.229;0.983;0.636	T	0.83198	-0.0080	10	0.87932	D	0	.	8.4238	0.32716	0.0:0.2914:0.0:0.7086	.	477;1427;1448	Q59FX3;P21359-2;P21359	.;.;NF1_HUMAN	R	1448;1427;1093	ENSP00000351015:S1448R;ENSP00000348498:S1427R;ENSP00000389907:S1093R	ENSP00000348498:S1427R	S	+	3	2	NF1	26610187	0.984000	0.35163	1.000000	0.80357	0.883000	0.51084	0.119000	0.15626	1.030000	0.39839	0.454000	0.30748	AGT		0.313	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267		4	14	0	0	0	0	4	14				
LRRC37B	114659	broad.mit.edu	37	17	30349724	30349724	+	Missense_Mutation	SNP	T	T	G			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr17:30349724T>G	ENST00000341671.7	+	1	1564	c.1559T>G	c.(1558-1560)aTa>aGa	p.I520R	LRRC37B_ENST00000394713.3_Missense_Mutation_p.I520R|LRRC37B_ENST00000543378.2_Missense_Mutation_p.I438R|LRRC37B_ENST00000327564.7_Missense_Mutation_p.I547R|LRRC37B_ENST00000584368.1_Missense_Mutation_p.I532R|LRRC37B_ENST00000581786.1_3'UTR	NM_052888.2	NP_443120.2	Q96QE4	LR37B_HUMAN	leucine rich repeat containing 37B	520						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	29		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244)				AGCACCAACATATGTGAGCTC	0.537																																						uc002hgu.2		NA																	0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(1558-1560)ATA>AGA		leucine rich repeat containing 37B precursor							93.0	85.0	88.0					17																	30349724		2202	4298	6500	SO:0001583	missense	114659					integral to membrane		g.chr17:30349724T>G	AJ314647	CCDS32609.1	17q11.2	2006-11-29		2005-08-09	ENSG00000185158	ENSG00000185158			29070	protein-coding gene	gene with protein product	"""KIAA0563-related"""					11468690, 10843809	Standard	NM_052888		Approved		uc002hgu.3	Q96QE4	OTTHUMG00000132785	ENST00000341671.7:c.1559T>G	17.37:g.30349724T>G	ENSP00000340519:p.Ile520Arg					LRRC37B_uc010wbx.1_Missense_Mutation_p.I438R|LRRC37B_uc010csu.2_Missense_Mutation_p.I520R	p.I520R	NM_052888	NP_443120	Q96QE4	LR37B_HUMAN			1	1570	+		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244)	520			Extracellular (Potential).		Q17RC9|Q5YKG6	Missense_Mutation	SNP	ENST00000341671.7	37	c.1559T>G	CCDS32609.1	.	.	.	.	.	.	.	.	.	.	N	13.40	2.225329	0.39300	.	.	ENSG00000185158	ENST00000543378;ENST00000327564;ENST00000394713;ENST00000341671	T;T;T;T	0.69306	-0.36;-0.39;0.67;-0.39	1.79	1.79	0.24919	.	.	.	.	.	T	0.75027	0.3794	M	0.73217	2.22	0.28662	N	0.906101	D;D	0.71674	0.998;0.983	D;P	0.64776	0.929;0.507	T	0.64630	-0.6362	9	0.87932	D	0	.	5.6377	0.17546	0.0:0.0:0.0:1.0	.	520;520	Q17RC9;Q96QE4	.;LR37B_HUMAN	R	438;547;520;520	ENSP00000443345:I438R;ENSP00000332536:I547R;ENSP00000378202:I520R;ENSP00000340519:I520R	ENSP00000332536:I547R	I	+	2	0	LRRC37B	27373837	0.520000	0.26250	0.651000	0.29564	0.081000	0.17604	2.396000	0.44468	1.078000	0.41014	0.249000	0.18162	ATA		0.537	LRRC37B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446508.1	NM_052888		57	164	0	0	0	0	57	164				
UBTF	7343	broad.mit.edu	37	17	42288993	42288993	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr17:42288993T>C	ENST00000302904.4	-	10	1520	c.1028A>G	c.(1027-1029)tAt>tGt	p.Y343C	UBTF_ENST00000343638.5_Missense_Mutation_p.Y306C|UBTF_ENST00000393606.3_Missense_Mutation_p.Y306C|UBTF_ENST00000526094.1_Missense_Mutation_p.Y306C|UBTF_ENST00000527034.1_Missense_Mutation_p.Y306C|UBTF_ENST00000436088.1_Missense_Mutation_p.Y343C|UBTF_ENST00000533177.1_Missense_Mutation_p.Y306C|CTB-175E5.7_ENST00000586560.1_RNA|UBTF_ENST00000529383.1_Missense_Mutation_p.Y343C			P17480	UBF1_HUMAN	upstream binding transcription factor, RNA polymerase I	343					chromatin silencing at rDNA (GO:0000183)|gene expression (GO:0010467)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|regulation of transcription from RNA polymerase I promoter (GO:0006356)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(10)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Breast(137;0.00765)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.114)		CTTCTTGTGATAGGCGTCCTT	0.587																																						uc002igb.2		NA																	0					0						c.(1027-1029)TAT>TGT		upstream binding transcription factor, RNA							116.0	113.0	114.0					17																	42288993		2203	4300	6503	SO:0001583	missense	7343				positive regulation of transcription from RNA polymerase I promoter|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleolus|nucleoplasm	DNA binding|protein binding	g.chr17:42288993T>C	BC042297	CCDS11480.1, CCDS42346.1	17q21.31	2014-03-25			ENSG00000108312	ENSG00000108312			12511	protein-coding gene	gene with protein product		600673				9126496	Standard	NM_001076683		Approved	UBF, NOR-90, UBF1, UBF2	uc010czs.3	P17480	OTTHUMG00000167585	ENST00000302904.4:c.1028A>G	17.37:g.42288993T>C	ENSP00000302640:p.Tyr343Cys					UBTF_uc002igc.2_Missense_Mutation_p.Y306C|UBTF_uc010czs.2_Missense_Mutation_p.Y343C|UBTF_uc002igd.2_Missense_Mutation_p.Y306C|UBTF_uc010czt.2_Missense_Mutation_p.Y343C|UBTF_uc002ige.2_Missense_Mutation_p.Y306C	p.Y343C	NM_014233	NP_055048	P17480	UBF1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.114)	9	1095	-		Breast(137;0.00765)|Prostate(33;0.0181)	343			HMG box 3.		A8K6R8	Missense_Mutation	SNP	ENST00000302904.4	37	c.1028A>G	CCDS11480.1	.	.	.	.	.	.	.	.	.	.	t	15.72	2.917885	0.52546	.	.	ENSG00000108312	ENST00000343638;ENST00000302904;ENST00000527034;ENST00000533177;ENST00000436088;ENST00000393606;ENST00000526094;ENST00000529383	T;T;T;T;T;T;T;T	0.67523	-0.27;-0.27;-0.27;-0.27;-0.27;-0.27;-0.27;-0.27	4.4	4.4	0.53042	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (4);	0.000000	0.85682	D	0.000000	T	0.79040	0.4379	M	0.66297	2.02	0.58432	D	0.999999	D;D;D	0.89917	1.0;0.998;1.0	D;D;D	0.87578	0.998;0.992;0.994	T	0.80441	-0.1381	10	0.52906	T	0.07	-13.5044	13.4552	0.61195	0.0:0.0:0.0:1.0	.	306;306;343	E9PKP7;P17480-2;P17480	.;.;UBF1_HUMAN	C	306;343;306;306;343;306;306;343	ENSP00000345297:Y306C;ENSP00000302640:Y343C;ENSP00000431539:Y306C;ENSP00000437180:Y306C;ENSP00000390669:Y343C;ENSP00000377231:Y306C;ENSP00000432925:Y306C;ENSP00000435708:Y343C	ENSP00000302640:Y343C	Y	-	2	0	UBTF	39644519	1.000000	0.71417	0.993000	0.49108	0.952000	0.60782	3.743000	0.55104	1.858000	0.53909	0.402000	0.26972	TAT		0.587	UBTF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395205.1	NM_014233		31	134	0	0	0	0	31	134				
LRRC37A2	474170	broad.mit.edu	37	17	44626341	44626341	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr17:44626341T>C	ENST00000576629.1	+	10	4331	c.3836T>C	c.(3835-3837)aTt>aCt	p.I1279T	ARL17A_ENST00000329240.4_Intron|ARL17A_ENST00000445552.2_Intron|ARL17A_ENST00000337845.7_Intron|LRRC37A2_ENST00000333412.3_Missense_Mutation_p.I1279T|ARL17A_ENST00000573185.1_Intron			A6NM11	L37A2_HUMAN	leucine rich repeat containing 37, member A2	1279						integral component of membrane (GO:0016021)				endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|pancreas(4)|prostate(2)	15		Melanoma(429;0.211)		BRCA - Breast invasive adenocarcinoma(366;0.232)		ACCCACGCTATTTCCATTTTA	0.468																																						uc002ikn.1		NA																	0					0						c.(3835-3837)ATT>ACT		c114 SLIT-like testicular protein precursor							41.0	71.0	61.0					17																	44626341		2177	4290	6467	SO:0001583	missense	474170					integral to membrane		g.chr17:44626341T>C	AY386262	CCDS42353.1	17q21.31	2013-05-14			ENSG00000238083	ENSG00000238083			32404	protein-coding gene	gene with protein product	"""c114 SLIT-like testicular protein"""						Standard	NM_001006607		Approved	FLJ45049	uc002ikn.1	A6NM11	OTTHUMG00000178032	ENST00000576629.1:c.3836T>C	17.37:g.44626341T>C	ENSP00000459551:p.Ile1279Thr					ARL17A_uc002iko.3_Intron|LRRC37A2_uc002ikq.1_Missense_Mutation_p.I240T|LRRC37A2_uc010dax.1_Missense_Mutation_p.I209T	p.I1279T	NM_001006607	NP_001006608	A6NM11	L37A2_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.232)	9	3839	+		Melanoma(429;0.211)	1279			Extracellular (Potential).		B7ZMC3	Missense_Mutation	SNP	ENST00000576629.1	37	c.3836T>C	CCDS42353.1	.	.	.	.	.	.	.	.	.	.	t	12.86	2.064193	0.36373	.	.	ENSG00000238083	ENST00000333412	T	0.73258	-0.73	2.91	2.91	0.33838	.	.	.	.	.	T	0.77110	0.4082	L	0.57536	1.79	0.22213	N	0.999281	B;D;P	0.65815	0.421;0.995;0.799	B;D;B	0.63113	0.055;0.911;0.276	T	0.64063	-0.6495	9	0.87932	D	0	.	7.5758	0.27935	0.0:0.0:0.0:1.0	.	1279;240;1279	C9JSP5;B3KRJ4;A6NM11	.;.;L37A2_HUMAN	T	1279	ENSP00000333071:I1279T	ENSP00000333071:I1279T	I	+	2	0	LRRC37A2	41981657	0.027000	0.19231	0.003000	0.11579	0.016000	0.09150	2.757000	0.47557	1.344000	0.45657	0.147000	0.16070	ATT		0.468	LRRC37A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440299.2	NM_001006607		18	96	0	0	0	0	18	96				
AKAP1	8165	broad.mit.edu	37	17	55196358	55196358	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr17:55196358C>T	ENST00000337714.3	+	10	2823	c.2590C>T	c.(2590-2592)Cca>Tca	p.P864S	AKAP1_ENST00000571629.1_Missense_Mutation_p.P864S|AKAP1_ENST00000539273.1_Missense_Mutation_p.P864S|AKAP1_ENST00000572557.1_Missense_Mutation_p.P864S	NM_003488.3	NP_003479.1	Q92667	AKAP1_HUMAN	A kinase (PRKA) anchor protein 1	864					blood coagulation (GO:0007596)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(2)|liver(1)|lung(7)|ovary(2)|pancreas(1)|skin(1)	14	Breast(9;5.46e-08)					AAGTTACAGTCCAACTGGTCT	0.443																																						uc002iux.2		NA																	0				ovary(1)	1						c.(2590-2592)CCA>TCA		A-kinase anchor protein 1 precursor							394.0	354.0	367.0					17																	55196358		2203	4300	6503	SO:0001583	missense	8165				blood coagulation	cytosol|integral to membrane|mitochondrial outer membrane	protein binding|RNA binding	g.chr17:55196358C>T	X97335	CCDS11594.1	17q22	2013-01-23			ENSG00000121057	ENSG00000121057		"""A-kinase anchor proteins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Tudor domain containing"""	367	protein-coding gene	gene with protein product	"""protein kinase anchoring protein 1"", ""dual specificity A-kinase-anchoring protein 1"", ""protein phosphatase 1, regulatory subunit 43"", ""tudor domain containing 17"""	602449		PRKA1		8769136, 7499250	Standard	NM_003488		Approved	AKAP121, AKAP149, SAKAP84, S-AKAP84, AKAP84, D-AKAP1, PPP1R43, TDRD17	uc002iux.3	Q92667	OTTHUMG00000140369	ENST00000337714.3:c.2590C>T	17.37:g.55196358C>T	ENSP00000337736:p.Pro864Ser					AKAP1_uc010wnl.1_Missense_Mutation_p.P864S|AKAP1_uc010dcm.2_Missense_Mutation_p.P864S	p.P864S	NM_003488	NP_003479	Q92667	AKAP1_HUMAN			10	2821	+	Breast(9;5.46e-08)		864					A8K8Q1|D3DTZ0|Q13320|Q9BW14	Missense_Mutation	SNP	ENST00000337714.3	37	c.2590C>T	CCDS11594.1	.	.	.	.	.	.	.	.	.	.	C	4.162	0.028467	0.08054	.	.	ENSG00000121057	ENST00000337714;ENST00000427138;ENST00000539273	T;T	0.13196	2.61;2.61	5.33	0.616	0.17613	.	0.424660	0.27866	N	0.017534	T	0.04048	0.0113	N	0.01576	-0.805	0.34293	D	0.683507	B	0.17465	0.022	B	0.08055	0.003	T	0.36792	-0.9733	10	0.13853	T	0.58	-4.9472	10.9324	0.47226	0.0:0.4324:0.4877:0.0799	.	864	Q92667	AKAP1_HUMAN	S	864;906;864	ENSP00000337736:P864S;ENSP00000443139:P864S	ENSP00000337736:P864S	P	+	1	0	AKAP1	52551357	0.346000	0.24844	0.906000	0.35671	0.968000	0.65278	0.400000	0.20932	0.667000	0.31107	0.561000	0.74099	CCA		0.443	AKAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277069.1			70	261	0	0	0	0	70	261				
FAM20A	54757	broad.mit.edu	37	17	66536060	66536060	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr17:66536060C>T	ENST00000592554.1	-	9	1989	c.1267G>A	c.(1267-1269)Gat>Aat	p.D423N	FAM20A_ENST00000226094.5_5'UTR|PRKAR1A_ENST00000588188.2_Intron	NM_001243746.1|NM_017565.3	NP_001230675.1|NP_060035.2	Q96MK3	FA20A_HUMAN	family with sequence similarity 20, member A	423					calcium ion homeostasis (GO:0055074)|enamel mineralization (GO:0070166)|tooth eruption (GO:0044691)	cell (GO:0005623)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)				cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(1)|stomach(1)	9	Breast(10;1.64e-13)					AGGAACCCATCATCCCCGAAC	0.567																																						uc002jho.2		NA																	0					0						c.(1267-1269)GAT>AAT		family with sequence similarity 20, member A							157.0	116.0	130.0					17																	66536060		2203	4300	6503	SO:0001583	missense	54757					extracellular region		g.chr17:66536060C>T	AK056789	CCDS11679.1	17q24.2	2014-02-07			ENSG00000108950	ENSG00000108950			23015	protein-coding gene	gene with protein product		611062					Standard	NM_017565		Approved	DKFZp434F2322	uc002jho.3	Q96MK3	OTTHUMG00000180152	ENST00000592554.1:c.1267G>A	17.37:g.66536060C>T	ENSP00000468308:p.Asp423Asn					FAM20A_uc010wqp.1_Missense_Mutation_p.D285N|PRKAR1A_uc002jhm.2_Intron|FAM20A_uc002jhn.2_Missense_Mutation_p.D134N	p.D423N	NM_017565	NP_060035	Q96MK3	FA20A_HUMAN			9	1555	-	Breast(10;1.64e-13)		423					B2RN47|B2RN49|Q9UF95	Missense_Mutation	SNP	ENST00000592554.1	37	c.1267G>A	CCDS11679.1	.	.	.	.	.	.	.	.	.	.	C	33	5.251252	0.95305	.	.	ENSG00000108950	ENST00000226094;ENST00000375556	.	.	.	5.67	5.67	0.87782	.	0.130276	0.64402	D	0.000001	T	0.75019	0.3793	L	0.50333	1.59	0.80722	D	1	D;D	0.64830	0.994;0.978	D;P	0.66716	0.946;0.795	T	0.72478	-0.4281	9	0.41790	T	0.15	-11.8431	19.7626	0.96329	0.0:1.0:0.0:0.0	.	423;285	Q96MK3;B7Z4Y3	FA20A_HUMAN;.	N	423;27	.	ENSP00000226094:D423N	D	-	1	0	FAM20A	64047655	1.000000	0.71417	0.962000	0.40283	0.931000	0.56810	4.648000	0.61425	2.676000	0.91093	0.561000	0.74099	GAT		0.567	FAM20A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450029.2	NM_017565		8	49	0	0	0	0	8	49				
ABCA9	10350	broad.mit.edu	37	17	66978771	66978771	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr17:66978771A>G	ENST00000340001.4	-	37	4863	c.4652T>C	c.(4651-4653)cTg>cCg	p.L1551P	ABCA9_ENST00000453985.2_Missense_Mutation_p.L1513P|ABCA9_ENST00000370732.2_3'UTR	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	1551					transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					ATAGACCATCAGGGAGGAGAA	0.463																																						uc002jhu.2		NA																	0				ovary(4)|upper_aerodigestive_tract(1)|central_nervous_system(1)	6						c.(4651-4653)CTG>CCG		ATP-binding cassette, sub-family A, member 9							109.0	102.0	104.0					17																	66978771		2203	4300	6503	SO:0001583	missense	10350				transport	integral to membrane	ATP binding|ATPase activity	g.chr17:66978771A>G	AF423307	CCDS11681.1	17q24	2012-03-14			ENSG00000154258	ENSG00000154258		"""ATP binding cassette transporters / subfamily A"""	39	protein-coding gene	gene with protein product		612507					Standard	XM_005256934		Approved	EST640918	uc002jhu.3	Q8IUA7	OTTHUMG00000140371	ENST00000340001.4:c.4652T>C	17.37:g.66978771A>G	ENSP00000342216:p.Leu1551Pro					ABCA9_uc010dez.2_Missense_Mutation_p.L1513P	p.L1551P	NM_080283	NP_525022	Q8IUA7	ABCA9_HUMAN			37	4795	-	Breast(10;1.47e-12)		1551					Q6P655|Q8N2S4|Q8WWZ5|Q96MD8	Missense_Mutation	SNP	ENST00000340001.4	37	c.4652T>C	CCDS11681.1	.	.	.	.	.	.	.	.	.	.	A	18.90	3.722589	0.68959	.	.	ENSG00000154258	ENST00000340001;ENST00000453985	D	0.81739	-1.53	4.9	4.9	0.64082	.	0.392882	0.16596	N	0.207555	D	0.90868	0.7131	M	0.91972	3.26	0.80722	D	1	D	0.63880	0.993	D	0.64687	0.928	D	0.92344	0.5884	10	0.87932	D	0	.	13.67	0.62418	1.0:0.0:0.0:0.0	.	1551	Q8IUA7	ABCA9_HUMAN	P	1551;1496	ENSP00000342216:L1551P	ENSP00000342216:L1551P	L	-	2	0	ABCA9	64490366	0.927000	0.31430	0.986000	0.45419	0.749000	0.42624	6.130000	0.71663	1.959000	0.56917	0.496000	0.49642	CTG		0.463	ABCA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277072.2	NM_172386		3	106	0	0	0	0	3	106				
SMCHD1	23347	broad.mit.edu	37	18	2673310	2673310	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr18:2673310C>G	ENST00000320876.6	+	4	793	c.455C>G	c.(454-456)tCa>tGa	p.S152*	SMCHD1_ENST00000261598.8_Nonsense_Mutation_p.S152*	NM_015295.2	NP_056110.2	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible hinge domain containing 1	152					chromosome organization (GO:0051276)|inactivation of X chromosome by DNA methylation (GO:0060821)	Barr body (GO:0001740)	ATP binding (GO:0005524)			NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						ATTGACAATTCATTGTCTGCT	0.328																																						uc002klm.3		NA																	0					0						c.(454-456)TCA>TGA		structural maintenance of chromosomes flexible							83.0	79.0	80.0					18																	2673310		1845	4093	5938	SO:0001587	stop_gained	23347				chromosome organization		ATP binding	g.chr18:2673310C>G	AB014550	CCDS45822.1	18p11.32	2010-05-12			ENSG00000101596	ENSG00000101596			29090	protein-coding gene	gene with protein product		614982				9734811	Standard	NM_015295		Approved	KIAA0650	uc002klm.4	A6NHR9		ENST00000320876.6:c.455C>G	18.37:g.2673310C>G	ENSP00000326603:p.Ser152*						p.S152*	NM_015295	NP_056110	A6NHR9	SMHD1_HUMAN			4	644	+			152					O75141|Q6AHX6|Q6ZTQ8|Q9H6Q2|Q9UG39	Nonsense_Mutation	SNP	ENST00000320876.6	37	c.455C>G	CCDS45822.1	.	.	.	.	.	.	.	.	.	.	C	41	8.690327	0.98916	.	.	ENSG00000101596	ENST00000320876;ENST00000261598	.	.	.	5.51	5.51	0.81932	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.0129	0.92881	0.0:1.0:0.0:0.0	.	.	.	.	X	152	.	ENSP00000261598:S152X	S	+	2	0	SMCHD1	2663310	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.541000	0.73865	2.601000	0.87937	0.655000	0.94253	TCA		0.328	SMCHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441082.2			8	22	0	0	0	0	8	22				
CDH2	1000	broad.mit.edu	37	18	25532209	25532209	+	Missense_Mutation	SNP	T	T	G			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr18:25532209T>G	ENST00000269141.3	-	16	3052	c.2629A>C	c.(2629-2631)Agt>Cgt	p.S877R	AC015933.2_ENST00000423367.1_RNA|CDH2_ENST00000399380.3_Missense_Mutation_p.S846R	NM_001792.3	NP_001783.2	P19022	CADH2_HUMAN	cadherin 2, type 1, N-cadherin (neuronal)	877	Ser-rich.				adherens junction organization (GO:0034332)|blood vessel morphogenesis (GO:0048514)|calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|cell-cell adhesion mediated by cadherin (GO:0044331)|cell-cell junction organization (GO:0045216)|glial cell differentiation (GO:0010001)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|muscle cell differentiation (GO:0042692)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|neuronal stem cell maintenance (GO:0097150)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of muscle cell differentiation (GO:0051149)|striated muscle cell differentiation (GO:0051146)	apical plasma membrane (GO:0016324)|catenin complex (GO:0016342)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|synapse (GO:0045202)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|gamma-catenin binding (GO:0045295)			NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						CCACCACTACTTGAGGAATTA	0.507											OREG0003876	type=REGULATORY REGION|Gene=CDH2|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										uc002kwg.2		NA																	0				ovary(3)|lung(1)	4						c.(2629-2631)AGT>CGT		cadherin 2, type 1 preproprotein							119.0	112.0	114.0					18																	25532209		2203	4300	6503	SO:0001583	missense	1000				adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation	catenin complex|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding	g.chr18:25532209T>G	S42303	CCDS11891.1	18q12.1	2010-01-26			ENSG00000170558	ENSG00000170558		"""CD molecules"", ""Cadherins / Major cadherins"""	1759	protein-coding gene	gene with protein product	"""N-cadherin"""	114020		NCAD		2384753, 7731968, 2216790	Standard	NM_001792		Approved	CDHN, CD325	uc002kwg.2	P19022	OTTHUMG00000059940	ENST00000269141.3:c.2629A>C	18.37:g.25532209T>G	ENSP00000269141:p.Ser877Arg		OREG0003876	type=REGULATORY REGION|Gene=CDH2|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	779	CDH2_uc010xbn.1_Missense_Mutation_p.S846R	p.S877R	NM_001792	NP_001783	P19022	CADH2_HUMAN			16	3088	-			877			Ser-rich.|Cytoplasmic (Potential).		A8MWK3|B0YIY6|Q14923|Q8N173	Missense_Mutation	SNP	ENST00000269141.3	37	c.2629A>C	CCDS11891.1	.	.	.	.	.	.	.	.	.	.	T	16.95	3.262771	0.59431	.	.	ENSG00000170558	ENST00000269141;ENST00000399380	T;T	0.80033	-1.33;-1.33	5.67	5.67	0.87782	Cadherin, cytoplasmic domain (1);	0.000000	0.85682	D	0.000000	D	0.90580	0.7047	M	0.86097	2.795	0.58432	D	0.999999	D;D	0.89917	1.0;0.999	D;D	0.87578	0.998;0.998	D	0.91875	0.5511	10	0.66056	D	0.02	.	15.916	0.79517	0.0:0.0:0.0:1.0	.	846;877	A8MWK3;P19022	.;CADH2_HUMAN	R	877;846	ENSP00000269141:S877R;ENSP00000382312:S846R	ENSP00000269141:S877R	S	-	1	0	CDH2	23786207	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.198000	0.72106	2.164000	0.68074	0.482000	0.46254	AGT		0.507	CDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133246.3	NM_001792		15	95	0	0	0	0	15	95				
GAREM	64762	broad.mit.edu	37	18	29867548	29867548	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr18:29867548C>T	ENST00000269209.6	-	4	1015	c.1012G>A	c.(1012-1014)Gag>Aag	p.E338K	GAREM_ENST00000578619.1_5'Flank|GAREM_ENST00000399218.4_Missense_Mutation_p.E338K|RP11-344B2.2_ENST00000579580.1_RNA			Q9H706	GAREM_HUMAN	GRB2 associated, regulator of MAPK1	338					cellular response to epidermal growth factor stimulus (GO:0071364)|epidermal growth factor receptor signaling pathway (GO:0007173)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)	plasma membrane (GO:0005886)	proline-rich region binding (GO:0070064)										CGTGAATACTCATCGATGTCG	0.547																																						uc002kxl.2		NA																	0				ovary(1)|skin(1)	2						c.(1012-1014)GAG>AAG		family with sequence similarity 59, member A							94.0	94.0	94.0					18																	29867548		2203	4300	6503	SO:0001583	missense	64762							g.chr18:29867548C>T	AK025263	CCDS11905.1, CCDS56057.1	18q12.1	2012-11-30	2012-11-30	2012-11-30	ENSG00000141441	ENSG00000141441			26136	protein-coding gene	gene with protein product	"""Grb2-associated and regulator of Erk/MAPK"""		"""chromosome 18 open reading frame 11"", ""family with sequence similarity 59, member A"""	C18orf11, FAM59A		19509291	Standard	NM_001242409		Approved	FLJ21610	uc002kxl.3	Q9H706	OTTHUMG00000132273	ENST00000269209.6:c.1012G>A	18.37:g.29867548C>T	ENSP00000269209:p.Glu338Lys					FAM59A_uc002kxk.1_Missense_Mutation_p.E338K	p.E338K	NM_022751	NP_073588	Q9H706	FA59A_HUMAN			4	1068	-			338					Q0VAG3|Q0VAG4|Q8ND03|Q9BSF5	Missense_Mutation	SNP	ENST00000269209.6	37	c.1012G>A	CCDS56057.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.006231	0.74932	.	.	ENSG00000141441	ENST00000399218;ENST00000269209	T;T	0.17370	2.28;2.28	5.55	5.55	0.83447	.	0.044485	0.85682	D	0.000000	T	0.31734	0.0806	L	0.36672	1.1	0.58432	D	0.999999	P;P	0.52463	0.953;0.944	P;P	0.58970	0.551;0.849	T	0.00888	-1.1526	10	0.66056	D	0.02	-26.3928	19.8519	0.96744	0.0:1.0:0.0:0.0	.	338;338	Q9H706;Q9H706-3	FA59A_HUMAN;.	K	338	ENSP00000382165:E338K;ENSP00000269209:E338K	ENSP00000269209:E338K	E	-	1	0	FAM59A	28121546	1.000000	0.71417	0.963000	0.40424	0.327000	0.28475	7.398000	0.79919	2.774000	0.95407	0.561000	0.74099	GAG		0.547	GAREM-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255365.1	NM_022751		13	103	0	0	0	0	13	103				
NOL4	8715	broad.mit.edu	37	18	31538215	31538215	+	Silent	SNP	C	C	T			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr18:31538215C>T	ENST00000261592.5	-	7	1521	c.1224G>A	c.(1222-1224)ctG>ctA	p.L408L	NOL4_ENST00000538587.1_Silent_p.L334L|NOL4_ENST00000535475.1_Silent_p.L253L|NOL4_ENST00000269185.4_Silent_p.L294L|NOL4_ENST00000535384.1_Silent_p.L123L|NOL4_ENST00000589544.1_Silent_p.L408L	NM_001198546.1|NM_003787.4	NP_001185475.1|NP_003778.2	O94818	NOL4_HUMAN	nucleolar protein 4	408						nucleolus (GO:0005730)	RNA binding (GO:0003723)			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						TAAAAGCTTTCAGCCGCTCGG	0.448																																						uc010dmi.2		NA																	0				ovary(3)	3						c.(1222-1224)CTG>CTA		nucleolar protein 4							130.0	115.0	120.0					18																	31538215		2203	4300	6503	SO:0001819	synonymous_variant	8715					nucleolus	RNA binding	g.chr18:31538215C>T	AB017800	CCDS11907.2, CCDS56058.1, CCDS56059.1, CCDS59308.1	18q12	2010-05-04			ENSG00000101746	ENSG00000101746			7870	protein-coding gene	gene with protein product	"""cancer/testis antigen 125"""	603577				9813152	Standard	NM_003787		Approved	NOLP, HRIHFB2255, CT125	uc010dmi.3	O94818	OTTHUMG00000132291	ENST00000261592.5:c.1224G>A	18.37:g.31538215C>T						NOL4_uc010xbs.1_Silent_p.L123L|NOL4_uc002kxr.3_Silent_p.L244L|NOL4_uc010xbt.1_Silent_p.L334L|NOL4_uc010dmh.2_Silent_p.L334L|NOL4_uc010xbu.1_Silent_p.L408L|NOL4_uc002kxt.3_Silent_p.L408L|NOL4_uc010xbv.1_Silent_p.L157L|NOL4_uc010xbw.1_Silent_p.L294L	p.L408L	NM_003787	NP_003778	O94818	NOL4_HUMAN			7	1453	-			408					B4DSQ0|B7Z3Z7|F5H1E3|Q6IBS2|Q9BWF1	Silent	SNP	ENST00000261592.5	37	c.1224G>A	CCDS11907.2																																																																																				0.448	NOL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255386.1	NM_003787		40	85	0	0	0	0	40	85				
MEX3D	399664	broad.mit.edu	37	19	1556787	1556788	+	Missense_Mutation	DNP	GC	GC	TT			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr19:1556787_1556788GC>TT	ENST00000402693.4	-	2	729_730	c.730_731GC>AA	c.(730-732)GCc>AAc	p.A244N	AC027307.2_ENST00000581992.1_RNA|AC027307.1_ENST00000410788.1_RNA|MEX3D_ENST00000388824.6_Missense_Mutation_p.A244N	NM_203304.3	NP_976049.3	Q86XN8	MEX3D_HUMAN	mex-3 RNA binding family member D	244					mRNA destabilization (GO:0061157)|mRNA localization resulting in posttranscriptional regulation of gene expression (GO:0010609)	nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	AU-rich element binding (GO:0017091)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			endometrium(1)|lung(3)	4		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GAAGTGTTCGGCCGCCGACAGG	0.688																																						uc010dsn.2		NA																	0				lung(1)	1						c.(730-732)GCC>AAC		ring finger and KH domain containing 1																																				SO:0001583	missense	399664				mRNA destabilization|posttranscriptional regulation of gene expression by mRNA localization|regulation of anti-apoptosis	nucleus|perinuclear region of cytoplasm	AU-rich element binding|zinc ion binding	g.chr19:1556787_1556788GC>TT	AB107353	CCDS32865.2	19p13.3	2013-08-21	2013-08-21	2007-07-18	ENSG00000181588	ENSG00000181588		"""RING-type (C3HC4) zinc fingers"", ""Mex-3 homologs"""	16734	protein-coding gene	gene with protein product	"""bcl-2 ARE RNA binding protein"""	611009	"""ring finger and KH domain containing 1"", ""mex-3 homolog D (C. elegans)"""	RKHD1		17267406	Standard	NM_203304		Approved	Tino, KIAA2031, OK/SW-cl.4, RNF193	uc010dsn.3	Q86XN8	OTTHUMG00000150369	ENST00000402693.4:c.730_731delinsTT	19.37:g.1556787_1556788delinsTT	ENSP00000384398:p.Ala244Asn						p.A244N	NM_203304	NP_976049	Q86XN8	MEX3D_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	2	730_731	-		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)	244					A0PJL8|A1L023|E9PAL6|Q71M49	Missense_Mutation	DNP	ENST00000402693.4	37	c.730_731GC>AA	CCDS32865.2																																																																																				0.688	MEX3D-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317870.2	NM_203304		19	49	0	0	0	0	19	49				
OR2Z1	284383	broad.mit.edu	37	19	8841649	8841649	+	Missense_Mutation	SNP	C	C	T	rs199861220	byFrequency	TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr19:8841649C>T	ENST00000324060.2	+	1	334	c.259C>T	c.(259-261)Cgg>Tgg	p.R87W		NM_001004699.1	NP_001004699.1	Q8NG97	OR2Z1_HUMAN	olfactory receptor, family 2, subfamily Z, member 1	87						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						AGACTTTCTGCGGGGAGAAGG	0.552													C|||	2	0.000399361	0.0	0.0014	5008	,	,		20989	0.001		0.0	False		,,,				2504	0.0					uc010xkg.1		NA																	0				central_nervous_system(1)|skin(1)	2						c.(259-261)CGG>TGG		olfactory receptor, family 2, subfamily Z,		C	TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	108.0	95.0	100.0		259	3.0	0.0	19		100	0,8600		0,0,4300	no	missense	OR2Z1	NM_001004699.1	101	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	87/315	8841649	1,13005	2203	4300	6503	SO:0001583	missense	284383				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:8841649C>T	AC008753	CCDS32895.1	19p13.2	2013-09-20	2002-11-13		ENSG00000181733	ENSG00000181733		"""GPCR / Class A : Olfactory receptors"""	15391	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily Z, member 2"""	OR2Z2			Standard	NM_001004699		Approved		uc010xkg.2	Q8NG97	OTTHUMG00000182195	ENST00000324060.2:c.259C>T	19.37:g.8841649C>T	ENSP00000316284:p.Arg87Trp						p.R87W	NM_001004699	NP_001004699	Q8NG97	OR2Z1_HUMAN			1	259	+			87			Extracellular (Potential).		B9EH50|Q6IFK0|Q96R25	Missense_Mutation	SNP	ENST00000324060.2	37	c.259C>T	CCDS32895.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	2.412	-0.335123	0.05278	2.27E-4	0.0	ENSG00000181733	ENST00000324060	T	0.00406	7.55	4.33	3.05	0.35203	GPCR, rhodopsin-like superfamily (1);	2.610920	0.01162	N	0.006663	T	0.00384	0.0012	L	0.39514	1.22	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.49606	-0.8922	10	0.38643	T	0.18	.	7.9281	0.29887	0.0:0.8369:0.0:0.1631	.	87	Q8NG97	OR2Z1_HUMAN	W	87	ENSP00000316284:R87W	ENSP00000316284:R87W	R	+	1	2	OR2Z1	8702649	0.000000	0.05858	0.009000	0.14445	0.011000	0.07611	-0.537000	0.06128	2.182000	0.69389	0.543000	0.68304	CGG		0.552	OR2Z1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459954.1			19	74	0	0	0	0	19	74				
ANGPTL6	83854	broad.mit.edu	37	19	10203335	10203335	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr19:10203335C>G	ENST00000253109.4	-	6	1581	c.1343G>C	c.(1342-1344)tGg>tCg	p.W448S	CTD-2240E14.4_ENST00000589622.1_RNA|ANGPTL6_ENST00000589181.1_Missense_Mutation_p.W408S|ANGPTL6_ENST00000592641.1_Missense_Mutation_p.W448S|C19orf66_ENST00000591813.1_3'UTR|C19orf66_ENST00000397881.3_3'UTR|C19orf66_ENST00000253110.11_3'UTR	NM_031917.2	NP_114123.2	Q8NI99	ANGL6_HUMAN	angiopoietin-like 6	448	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				angiogenesis (GO:0001525)|cell differentiation (GO:0030154)	extracellular vesicular exosome (GO:0070062)|secretory granule (GO:0030141)				endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)	12			OV - Ovarian serous cystadenocarcinoma(20;3.58e-08)|Epithelial(33;2.5e-05)|all cancers(31;5.96e-05)			AAACTCAGCCCAGTAGACACC	0.617																																						uc002mmx.1		NA																	0					0						c.(1342-1344)TGG>TCG		angiopoietin-like 6 precursor							101.0	90.0	94.0					19																	10203335		2203	4300	6503	SO:0001583	missense	83854				angiogenesis|cell differentiation|signal transduction	extracellular space	receptor binding	g.chr19:10203335C>G	AB054064	CCDS12224.1	19p13.2	2013-02-06				ENSG00000130812		"""Fibrinogen C domain containing"""	23140	protein-coding gene	gene with protein product	"""angiopoietin-related protein 5"""	609336				12871997	Standard	NM_031917		Approved	ARP5, AGF	uc002mmy.1	Q8NI99		ENST00000253109.4:c.1343G>C	19.37:g.10203335C>G	ENSP00000253109:p.Trp448Ser					C19orf66_uc002mmu.3_3'UTR|C19orf66_uc002mmv.3_3'UTR|C19orf66_uc002mmw.3_3'UTR|ANGPTL6_uc002mmy.1_Missense_Mutation_p.W448S	p.W448S	NM_031917	NP_114123	Q8NI99	ANGL6_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;3.58e-08)|Epithelial(33;2.5e-05)|all cancers(31;5.96e-05)		6	1461	-			448			Fibrinogen C-terminal.		A5PKV7|Q9BZZ0	Missense_Mutation	SNP	ENST00000253109.4	37	c.1343G>C	CCDS12224.1	.	.	.	.	.	.	.	.	.	.	C	18.01	3.528774	0.64860	.	.	ENSG00000130812	ENST00000253109	D	0.88201	-2.35	4.39	3.36	0.38483	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 2 (1);	0.000000	0.64402	D	0.000001	D	0.96685	0.8918	H	0.99600	4.65	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	D	0.96586	0.9434	10	0.87932	D	0	.	11.2571	0.49060	0.0:0.9086:0.0:0.0913	.	448	Q8NI99	ANGL6_HUMAN	S	448	ENSP00000253109:W448S	ENSP00000253109:W448S	W	-	2	0	ANGPTL6	10064335	1.000000	0.71417	1.000000	0.80357	0.833000	0.47200	7.590000	0.82653	1.083000	0.41159	0.306000	0.20318	TGG		0.617	ANGPTL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451142.1	NM_031917		28	83	0	0	0	0	28	83				
ZNF208	7757	broad.mit.edu	37	19	22157159	22157159	+	Missense_Mutation	SNP	T	T	C	rs181405778	byFrequency	TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr19:22157159T>C	ENST00000397126.4	-	4	825	c.677A>G	c.(676-678)gAg>gGg	p.E226G	ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	NM_007153.3	NP_009084.2	O43345	ZN208_HUMAN	zinc finger protein 208	226					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				GTAGGGTTTCTCTCCAGTATG	0.358													t|||	3	0.000599042	0.0	0.0	5008	,	,		19709	0.0		0.003	False		,,,				2504	0.0					uc002nqp.2		NA																	0				ovary(5)|skin(2)	7						c.(676-678)GAG>GGG		zinc finger protein 208		T	GLY/GLU	1,4183		0,1,2091	52.0	58.0	56.0		677	1.9	0.0	19		56	8,8458		0,8,4225	no	missense	ZNF208	NM_007153.3	98	0,9,6316	CC,CT,TT		0.0945,0.0239,0.0711	possibly-damaging	226/1281	22157159	9,12641	2092	4233	6325	SO:0001583	missense	7757							g.chr19:22157159T>C	BC038199	CCDS54240.1	19p12	2013-01-08				ENSG00000160321		"""Zinc fingers, C2H2-type"", ""-"""	12999	protein-coding gene	gene with protein product	"""zinc finger protein 95"""	603977				9724325	Standard	NM_007153		Approved	PMIDP, ZNF95	uc021urr.1	O43345		ENST00000397126.4:c.677A>G	19.37:g.22157159T>C	ENSP00000380315:p.Glu226Gly					ZNF208_uc002nqo.1_Intron|ZNF208_uc010ecw.1_5'Flank	p.E226G	NM_007153	NP_009084					4	826	-		all_lung(12;0.0961)|Lung NSC(12;0.103)							Missense_Mutation	SNP	ENST00000397126.4	37	c.677A>G	CCDS54240.1	3	0.0013736263736263737	0	0.0	0	0.0	0	0.0	3	0.00395778364116095	T	10.46	1.355355	0.24512	2.39E-4	9.45E-4	ENSG00000160321	ENST00000397126;ENST00000428290	T	0.27557	1.66	2.93	1.89	0.25635	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.47395	0.1443	.	.	.	0.09310	N	1	D	0.65815	0.995	D	0.68943	0.961	T	0.25398	-1.0133	8	0.54805	T	0.06	.	6.8444	0.23980	0.0:0.125:0.0:0.875	.	226	O43345	ZN208_HUMAN	G	226	ENSP00000380315:E226G	ENSP00000380315:E226G	E	-	2	0	ZNF208	21948999	0.008000	0.16893	0.000000	0.03702	0.001000	0.01503	1.554000	0.36266	0.089000	0.17243	0.260000	0.18958	GAG		0.358	ZNF208-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464302.1	NM_007153		15	57	0	0	0	0	15	57				
DPY19L3	147991	broad.mit.edu	37	19	32930743	32930743	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr19:32930743A>G	ENST00000342179.5	+	8	997	c.782A>G	c.(781-783)aAt>aGt	p.N261S	DPY19L3_ENST00000586987.1_Missense_Mutation_p.N261S|DPY19L3_ENST00000392250.2_Missense_Mutation_p.N261S	NM_207325.2	NP_997208.2	Q6ZPD9	D19L3_HUMAN	dpy-19-like 3 (C. elegans)	261						integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)			breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(4)|pancreas(1)	32	Esophageal squamous(110;0.162)					TGGCAATTTAATCAATTTATG	0.388																																						uc002ntg.2		NA																	0				ovary(4)	4						c.(781-783)AAT>AGT		dpy-19-like 3							132.0	122.0	126.0					19																	32930743		2203	4300	6503	SO:0001583	missense	147991					integral to membrane		g.chr19:32930743A>G		CCDS12422.1	19q13.11	2008-02-05				ENSG00000178904			27120	protein-coding gene	gene with protein product		613894					Standard	NM_207325		Approved		uc002ntg.3	Q6ZPD9		ENST00000342179.5:c.782A>G	19.37:g.32930743A>G	ENSP00000344937:p.Asn261Ser					DPY19L3_uc002nth.1_Missense_Mutation_p.N261S|DPY19L3_uc002nti.1_RNA	p.N261S	NM_207325	NP_997208	Q6ZPD9	D19L3_HUMAN			8	958	+	Esophageal squamous(110;0.162)		261			Helical; (Potential).		Q68DC7|Q6ZTB7|Q6ZTS2	Missense_Mutation	SNP	ENST00000342179.5	37	c.782A>G	CCDS12422.1	.	.	.	.	.	.	.	.	.	.	A	6.038	0.375334	0.11409	.	.	ENSG00000178904	ENST00000392250;ENST00000319326;ENST00000342179	T;T	0.42513	0.97;0.97	5.68	4.64	0.57946	.	0.048571	0.85682	D	0.000000	T	0.20455	0.0492	N	0.16098	0.37	0.48696	D	0.999697	P	0.35192	0.489	B	0.31869	0.137	T	0.09840	-1.0656	10	0.02654	T	1	-20.3836	10.6745	0.45778	0.8575:0.0:0.0:0.1425	.	261	Q6ZPD9	D19L3_HUMAN	S	261	ENSP00000376081:N261S;ENSP00000344937:N261S	ENSP00000315672:N261S	N	+	2	0	DPY19L3	37622583	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.940000	0.92958	0.927000	0.37143	0.455000	0.32223	AAT		0.388	DPY19L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450311.1	NM_207325		28	49	0	0	0	0	28	49				
ZSCAN5A	79149	broad.mit.edu	37	19	56734095	56734095	+	Silent	SNP	G	G	A			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr19:56734095G>A	ENST00000587340.1	-	6	1299	c.604C>T	c.(604-606)Cta>Tta	p.L202L	ZSCAN5A_ENST00000592355.1_Silent_p.L202L|ZSCAN5A_ENST00000587492.1_Silent_p.L56L|ZSCAN5A_ENST00000391713.1_Silent_p.L202L|ZSCAN5A_ENST00000254165.3_Silent_p.L85L			Q9BUG6	ZSA5A_HUMAN	zinc finger and SCAN domain containing 5A	202					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(12)|ovary(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						CTCTTGTGTAGCAGAAAGTCC	0.488																																						uc002qmq.2		NA																	0				large_intestine(1)|ovary(1)|skin(1)	3						c.(604-606)CTA>TTA		zinc finger and SCAN domain containing 5A							146.0	123.0	131.0					19																	56734095		2203	4300	6503	SO:0001819	synonymous_variant	79149				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:56734095G>A	AK098700	CCDS12941.1	19q13.43	2013-01-08	2008-06-10	2008-06-10	ENSG00000131848	ENSG00000131848		"""-"", ""Zinc fingers, C2H2-type"""	23710	protein-coding gene	gene with protein product			"""zinc finger protein 495"", ""zinc finger and SCAN domain containing 5"""	ZNF495, ZSCAN5			Standard	NM_024303		Approved	MGC4161	uc002qmq.3	Q9BUG6		ENST00000587340.1:c.604C>T	19.37:g.56734095G>A						ZSCAN5A_uc010ygi.1_Silent_p.L85L|ZSCAN5A_uc002qmr.2_Silent_p.L202L|ZSCAN5A_uc002qms.1_Silent_p.L202L	p.L202L	NM_024303	NP_077279	Q9BUG6	ZSA5A_HUMAN			4	770	-			202					B4DX98|Q49A73|Q53F04|Q8N7B3	Silent	SNP	ENST00000587340.1	37	c.604C>T	CCDS12941.1																																																																																				0.488	ZSCAN5A-004	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458110.1	NM_024303		17	68	0	0	0	0	17	68				
ABHD1	84696	broad.mit.edu	37	2	27352690	27352690	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr2:27352690C>T	ENST00000316470.4	+	6	800	c.686C>T	c.(685-687)tCt>tTt	p.S229F		NM_032604.3	NP_115993	Q96SE0	ABHD1_HUMAN	abhydrolase domain containing 1	229						integral component of membrane (GO:0016021)	carboxylic ester hydrolase activity (GO:0052689)			endometrium(1)|kidney(1)|lung(3)	5	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTGACTCTGTCTGCATGCTGG	0.567																																						uc002rit.2		NA																	0					0						c.(685-687)TCT>TTT		abhydrolase domain-containing protein 1							90.0	89.0	90.0					2																	27352690		2203	4300	6503	SO:0001583	missense	84696					integral to membrane	carboxylesterase activity	g.chr2:27352690C>T	AK093447	CCDS1736.1	2p23.3	2011-01-21			ENSG00000143994	ENSG00000143994		"""Abhydrolase domain containing"""	17553	protein-coding gene	gene with protein product		612195				11922611	Standard	NM_032604		Approved	LABH1, FLJ36128	uc002rit.3	Q96SE0	OTTHUMG00000097072	ENST00000316470.4:c.686C>T	2.37:g.27352690C>T	ENSP00000326491:p.Ser229Phe					ABHD1_uc002riu.2_RNA|ABHD1_uc002riv.2_RNA	p.S229F	NM_032604	NP_115993	Q96SE0	ABHD1_HUMAN			6	846	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		229					B3KSF6|E9PDR9|Q05BY3|Q53SZ1|Q8IXQ7	Missense_Mutation	SNP	ENST00000316470.4	37	c.686C>T	CCDS1736.1	.	.	.	.	.	.	.	.	.	.	C	18.71	3.682579	0.68157	.	.	ENSG00000143994	ENST00000316470;ENST00000416071	T;T	0.67171	-0.25;-0.25	4.87	3.99	0.46301	.	0.000000	0.64402	D	0.000002	D	0.84383	0.5460	M	0.93854	3.465	0.43936	D	0.996593	D	0.76494	0.999	D	0.79784	0.993	D	0.86988	0.2108	10	0.87932	D	0	-14.2491	10.6886	0.45858	0.0:0.9074:0.0:0.0926	.	229	Q96SE0	ABHD1_HUMAN	F	229;166	ENSP00000326491:S229F;ENSP00000397522:S166F	ENSP00000326491:S229F	S	+	2	0	ABHD1	27206194	1.000000	0.71417	0.936000	0.37596	0.985000	0.73830	3.724000	0.54962	1.278000	0.44430	0.655000	0.94253	TCT		0.567	ABHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214188.1	NM_032604		16	81	0	0	0	0	16	81				
THADA	63892	broad.mit.edu	37	2	43801884	43801884	+	Silent	SNP	C	C	T			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr2:43801884C>T	ENST00000405006.4	-	11	1671	c.1320G>A	c.(1318-1320)ttG>ttA	p.L440L	THADA_ENST00000415080.2_Silent_p.L150L|THADA_ENST00000330266.7_Silent_p.L150L|THADA_ENST00000405975.2_Silent_p.L440L|THADA_ENST00000403856.1_Silent_p.L440L|THADA_ENST00000404790.1_Silent_p.L440L|THADA_ENST00000402360.2_Silent_p.L440L	NM_001083953.1|NM_001271643.1	NP_001077422.1|NP_001258572.1	Q6YHU6	THADA_HUMAN	thyroid adenoma associated	440										breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				GACTCTCAGTCAATTCCACAA	0.418																																						uc002rsw.3		NA																	0				ovary(2)|skin(1)	3						c.(1318-1320)TTG>TTA		thyroid adenoma associated							144.0	137.0	139.0					2																	43801884		1901	4122	6023	SO:0001819	synonymous_variant	63892						binding	g.chr2:43801884C>T	AY149629	CCDS46268.1, CCDS62901.1, CCDS62902.1	2p21	2008-02-05			ENSG00000115970	ENSG00000115970			19217	protein-coding gene	gene with protein product		611800				12063398, 11214970	Standard	NM_022065		Approved	FLJ21877, KIAA1767, GITA	uc002rsx.4	Q6YHU6	OTTHUMG00000152398	ENST00000405006.4:c.1320G>A	2.37:g.43801884C>T						THADA_uc002rsx.3_Silent_p.L440L|THADA_uc002rsy.3_RNA|THADA_uc010fas.1_RNA|THADA_uc002rsz.2_Silent_p.L150L|THADA_uc002rta.2_Silent_p.L150L|THADA_uc002rtb.1_Silent_p.L440L|THADA_uc002rtc.3_Silent_p.L440L|THADA_uc002rtd.2_Silent_p.L440L	p.L440L	NM_001083953	NP_001077422	Q6YHU6	THADA_HUMAN			11	1672	-		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)	440					A8K1V8|B7WNS6|Q3KR04|Q53RC6|Q53TB2|Q6YHU2|Q6ZU38|Q8IY32|Q8TAU8|Q96I88|Q9BZF7|Q9C096|Q9H6U0|Q9H6W7	Silent	SNP	ENST00000405006.4	37	c.1320G>A	CCDS46268.1																																																																																				0.418	THADA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326070.3	NM_022065		34	83	0	0	0	0	34	83				
RANBP2	5903	broad.mit.edu	37	2	109382140	109382140	+	Silent	SNP	C	C	T	rs139290272	byFrequency	TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr2:109382140C>T	ENST00000283195.6	+	20	5271	c.5145C>T	c.(5143-5145)agC>agT	p.S1715S		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	1715					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of glucokinase activity (GO:0033132)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein sumoylation (GO:0016925)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)	ligase activity (GO:0016874)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|Ran GTPase binding (GO:0008536)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						CTCCAAAGAGCGGATTTGAGG	0.428																																						uc002tem.3		NA																RANBP2/ALK(16)	0				soft_tissue(16)|lung(1)|pancreas(1)	18						c.(5143-5145)AGC>AGT		RAN binding protein 2		C		0,4406		0,0,2203	117.0	115.0	116.0		5145	2.0	0.9	2	dbSNP_134	116	3,8597	2.2+/-6.3	0,3,4297	no	coding-synonymous	RANBP2	NM_006267.4		0,3,6500	TT,TC,CC		0.0349,0.0,0.0231		1715/3225	109382140	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	5903				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding	g.chr2:109382140C>T	D42063	CCDS2079.1	2q13	2013-11-14			ENSG00000153201	ENSG00000153201		"""Tetratricopeptide (TTC) repeat domain containing"""	9848	protein-coding gene	gene with protein product		601181	"""acute necrotizing encephalopathy 1 (autosomal dominant)"""	ANE1		7724562, 19118815	Standard	NM_006267		Approved	NUP358, ADANE	uc002tem.4	P49792	OTTHUMG00000130981	ENST00000283195.6:c.5145C>T	2.37:g.109382140C>T							p.S1715S	NM_006267	NP_006258	P49792	RBP2_HUMAN			20	5271	+			1715					Q13074|Q15280|Q53TE2|Q59FH7	Silent	SNP	ENST00000283195.6	37	c.5145C>T	CCDS2079.1																																																																																				0.428	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253594.1	NM_006267		25	130	0	0	0	0	25	130				
WDR33	55339	broad.mit.edu	37	2	128471233	128471233	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr2:128471233C>T	ENST00000322313.4	-	18	3390	c.3232G>A	c.(3232-3234)Gaa>Aaa	p.E1078K		NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN	WD repeat domain 33	1078					mRNA processing (GO:0006397)|postreplication repair (GO:0006301)|spermatogenesis (GO:0007283)	collagen trimer (GO:0005581)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		CTGCGGCCTTCCCATGCCCCC	0.677																																						uc002tpg.1		NA																	0					0						c.(3232-3234)GAA>AAA		WD repeat domain 33 isoform 1							75.0	83.0	80.0					2																	128471233		2203	4300	6503	SO:0001583	missense	55339				postreplication repair|spermatogenesis	collagen|nucleus	protein binding	g.chr2:128471233C>T		CCDS2150.1, CCDS42746.1, CCDS46407.1	2q21.1	2013-01-09			ENSG00000136709	ENSG00000136709		"""WD repeat domain containing"""	25651	protein-coding gene	gene with protein product						11162572	Standard	NM_001006622		Approved	FLJ11294, WDC146, NET14	uc002tpg.2	Q9C0J8	OTTHUMG00000131534	ENST00000322313.4:c.3232G>A	2.37:g.128471233C>T	ENSP00000325377:p.Glu1078Lys						p.E1078K	NM_018383	NP_060853	Q9C0J8	WDR33_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0695)	18	3415	-	Colorectal(110;0.1)		1078					Q05DP8|Q53FG9|Q587J1|Q69YF7|Q6NUQ0|Q9NUL1	Missense_Mutation	SNP	ENST00000322313.4	37	c.3232G>A	CCDS2150.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.551257	0.86127	.	.	ENSG00000136709	ENST00000322313	D	0.90324	-2.65	5.81	5.81	0.92471	.	0.123056	0.53938	D	0.000041	D	0.84660	0.5521	N	0.19112	0.55	0.80722	D	1	B	0.31318	0.319	B	0.21917	0.037	T	0.82774	-0.0291	10	0.56958	D	0.05	-8.2155	20.0726	0.97729	0.0:1.0:0.0:0.0	.	1078	Q9C0J8	WDR33_HUMAN	K	1078	ENSP00000325377:E1078K	ENSP00000325377:E1078K	E	-	1	0	WDR33	128187703	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	4.259000	0.58828	2.738000	0.93877	0.655000	0.94253	GAA		0.677	WDR33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331141.2	NM_018383		33	128	0	0	0	0	33	128				
ZEB2	9839	broad.mit.edu	37	2	145147391	145147391	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr2:145147391G>T	ENST00000558170.2	-	10	4456	c.3272C>A	c.(3271-3273)gCg>gAg	p.A1091E	ZEB2_ENST00000539609.3_Missense_Mutation_p.A1067E|ZEB2_ENST00000303660.4_Missense_Mutation_p.A1091E|ZEB2_ENST00000409487.3_Missense_Mutation_p.A1091E	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	1091	Glu-rich (acidic).				cell proliferation in forebrain (GO:0021846)|developmental pigmentation (GO:0048066)|hippocampus development (GO:0021766)|melanocyte migration (GO:0097324)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neural tube closure (GO:0001843)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of melanin biosynthetic process (GO:0048023)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of melanosome organization (GO:1903056)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|phosphatase regulator activity (GO:0019208)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		CTCGCGCTCCGCCGCTTCCCG	0.602																																					Melanoma(33;1235 1264 5755 16332)	uc002tvu.2		NA																	0				ovary(5)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)	9						c.(3271-3273)GCG>GAG		zinc finger homeobox 1b							48.0	50.0	49.0					2																	145147391		2203	4300	6503	SO:0001583	missense	9839					cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding	g.chr2:145147391G>T	AB011141	CCDS2186.1, CCDS54403.1	2q22.3	2013-01-08	2007-02-15	2007-02-15	ENSG00000169554	ENSG00000169554		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	14881	protein-coding gene	gene with protein product	"""SMAD interacting protein 1"""	605802	"""zinc finger homeobox 1b"""	ZFHX1B			Standard	NM_014795		Approved	KIAA0569, SIP-1, SIP1	uc002tvu.3	O60315	OTTHUMG00000131834	ENST00000558170.2:c.3272C>A	2.37:g.145147391G>T	ENSP00000454157:p.Ala1091Glu					ZEB2_uc002tvv.2_Missense_Mutation_p.A1085E|ZEB2_uc010zbm.1_Missense_Mutation_p.A1062E|ZEB2_uc010fnp.2_Intron	p.A1091E	NM_014795	NP_055610	O60315	ZEB2_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.112)	10	3752	-			1091			Glu-rich (acidic).		A0JP09|B7Z2P2|F5H814|Q9UED1	Missense_Mutation	SNP	ENST00000558170.2	37	c.3272C>A	CCDS2186.1	.	.	.	.	.	.	.	.	.	.	G	27.9	4.872988	0.91664	.	.	ENSG00000169554	ENST00000539609;ENST00000303660;ENST00000409487	T;T;T	0.15139	2.46;2.45;2.45	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	T	0.28333	0.0700	N	0.14661	0.345	0.80722	D	1	D;D;D	0.89917	1.0;0.998;0.998	D;P;P	0.75020	0.985;0.846;0.846	T	0.16012	-1.0417	10	0.72032	D	0.01	-8.1027	19.7945	0.96474	0.0:0.0:1.0:0.0	.	1067;1090;1091	F5H814;A0JP08;O60315	.;.;ZEB2_HUMAN	E	1067;1091;1091	ENSP00000443792:A1067E;ENSP00000302501:A1091E;ENSP00000386854:A1091E	ENSP00000302501:A1091E	A	-	2	0	ZEB2	144863861	1.000000	0.71417	0.998000	0.56505	0.987000	0.75469	7.783000	0.85696	2.746000	0.94184	0.591000	0.81541	GCG		0.602	ZEB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254778.5	NM_014795		17	91	1	0	5.01e-05	6.32e-05	17	91				
TTN	7273	broad.mit.edu	37	2	179669322	179669322	+	Silent	SNP	C	C	T			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr2:179669322C>T	ENST00000591111.1	-	2	272	c.48G>A	c.(46-48)gtG>gtA	p.V16V	TTN_ENST00000360870.5_Silent_p.V16V|TTN_ENST00000342175.6_Silent_p.V16V|TTN_ENST00000342992.6_Silent_p.V16V|TTN_ENST00000359218.5_Silent_p.V16V|TTN_ENST00000460472.2_Silent_p.V16V|TTN_ENST00000589042.1_Silent_p.V16V			Q8WZ42	TITIN_HUMAN	titin	32627	Ig-like 1.				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)			CCTCCAGTACCACAACGCTTT	0.438																																						uc002und.2		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.(46-48)GTG>GTA		Homo sapiens cDNA FLJ32040 fis, clone NTONG2000858, highly similar to H.sapiens mRNA for titin protein.							127.0	104.0	112.0					2																	179669322		2203	4300	6503	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179669322C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.48G>A	2.37:g.179669322C>T						TTN_uc010zfg.1_Silent_p.V16V|TTN_uc010zfh.1_Silent_p.V16V|TTN_uc010zfi.1_Silent_p.V16V|TTN_uc010zfj.1_Silent_p.V16V|TTN_uc002unb.2_Silent_p.V16V	p.V16V			Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		2	273	-			16					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	Silent	SNP	ENST00000591111.1	37	c.48G>A																																																																																					0.438	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		14	59	0	0	0	0	14	59				
NRP2	8828	broad.mit.edu	37	2	206562314	206562314	+	Silent	SNP	C	C	T			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr2:206562314C>T	ENST00000357785.5	+	2	151	c.120C>T	c.(118-120)atC>atT	p.I40I	NRP2_ENST00000412873.2_Silent_p.I40I|NRP2_ENST00000355117.4_Silent_p.I40I|NRP2_ENST00000540178.1_Silent_p.I40I|NRP2_ENST00000417189.1_Silent_p.I40I|NRP2_ENST00000272849.3_Silent_p.I40I|NRP2_ENST00000357118.4_Silent_p.I40I|NRP2_ENST00000540841.1_Silent_p.I40I|NRP2_ENST00000360409.3_Silent_p.I40I			Q99435	NELL2_HUMAN	neuropilin 2	0						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						CTGGCTATATCACCTCTCCCG	0.498																																						uc002vaw.2		NA																	0				skin(2)|ovary(1)|central_nervous_system(1)	4						c.(118-120)ATC>ATT		neuropilin 2 isoform 1 precursor							314.0	299.0	304.0					2																	206562314		2203	4300	6503	SO:0001819	synonymous_variant	8828				angiogenesis|axon guidance|cell adhesion	integral to membrane|membrane fraction|plasma membrane	heparin binding|metal ion binding|semaphorin receptor activity|vascular endothelial growth factor receptor activity	g.chr2:206562314C>T	AF016098	CCDS2364.1, CCDS2365.1, CCDS46496.1, CCDS46497.1, CCDS46498.1, CCDS46499.1	2q33.3	2008-05-23			ENSG00000118257	ENSG00000118257			8005	protein-coding gene	gene with protein product		602070				9529250, 9331348	Standard	NM_003872		Approved	VEGF165R2	uc002vaw.3	O60462	OTTHUMG00000132893	ENST00000357785.5:c.120C>T	2.37:g.206562314C>T						NRP2_uc002vat.2_Silent_p.I40I|NRP2_uc002vau.2_Silent_p.I40I|NRP2_uc002vav.2_Silent_p.I40I|NRP2_uc002vax.2_Silent_p.I40I|NRP2_uc002vay.2_Silent_p.I40I|NRP2_uc010fud.2_Silent_p.I40I	p.I40I	NM_201266	NP_957718	O60462	NRP2_HUMAN			2	911	+			40			Extracellular (Potential).|CUB 1.		B7Z2U7|B7Z5Q4|B7Z9J5|B7Z9U3|Q96JS2	Silent	SNP	ENST00000357785.5	37	c.120C>T	CCDS46496.1																																																																																				0.498	NRP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000336467.1			62	371	0	0	0	0	62	371				
CUL3	8452	broad.mit.edu	37	2	225376090	225376090	+	Silent	SNP	C	C	T			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr2:225376090C>T	ENST00000264414.4	-	6	1202	c.864G>A	c.(862-864)ttG>ttA	p.L288L	CUL3_ENST00000409096.1_Silent_p.L264L|CUL3_ENST00000344951.4_Silent_p.L222L|CUL3_ENST00000409777.1_Silent_p.L264L|CUL3_ENST00000432260.2_5'Flank	NM_003590.4	NP_003581.1	Q13618	CUL3_HUMAN	cullin 3	288					cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|COPII vesicle coating (GO:0048208)|cyclin catabolic process (GO:0008054)|embryonic cleavage (GO:0040016)|ER to Golgi vesicle-mediated transport (GO:0006888)|G1/S transition of mitotic cell cycle (GO:0000082)|gastrulation (GO:0007369)|integrin-mediated signaling pathway (GO:0007229)|intrinsic apoptotic signaling pathway (GO:0097193)|mitotic metaphase plate congression (GO:0007080)|negative regulation of Rho protein signal transduction (GO:0035024)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|stem cell division (GO:0017145)|stress fiber assembly (GO:0043149)|trophectodermal cellular morphogenesis (GO:0001831)|Wnt signaling pathway (GO:0016055)	Cul3-RING ubiquitin ligase complex (GO:0031463)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|nucleus (GO:0005634)|polar microtubule (GO:0005827)	POZ domain binding (GO:0031208)			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	46		all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138)		Epithelial(121;1.58e-11)|all cancers(144;1.43e-08)|Lung(261;0.00863)|LUSC - Lung squamous cell carcinoma(224;0.00902)		TTCCATTTTTCAACATATGTA	0.338																																						uc002vny.2		NA																	0				upper_aerodigestive_tract(1)|ovary(1)|liver(1)|kidney(1)	4						c.(862-864)TTG>TTA		cullin 3							193.0	198.0	196.0					2																	225376090		2202	4300	6502	SO:0001819	synonymous_variant	8452				cell cycle arrest|cell migration|cyclin catabolic process|cytokinesis|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|mitotic anaphase|negative regulation of Rho protein signal transduction|positive regulation of cell proliferation|protein ubiquitination|stress fiber assembly	Cul3-RING ubiquitin ligase complex|Golgi apparatus|nucleus|polar microtubule	ubiquitin protein ligase binding	g.chr2:225376090C>T	U58089	CCDS2462.1, CCDS58751.1	2q36.2	2011-05-24			ENSG00000036257	ENSG00000036257			2553	protein-coding gene	gene with protein product		603136				8681378, 17192413	Standard	NM_003590		Approved		uc002vny.3	Q13618	OTTHUMG00000133167	ENST00000264414.4:c.864G>A	2.37:g.225376090C>T						CUL3_uc010zls.1_Silent_p.L222L|CUL3_uc010fwy.1_Silent_p.L294L	p.L288L	NM_003590	NP_003581	Q13618	CUL3_HUMAN		Epithelial(121;1.58e-11)|all cancers(144;1.43e-08)|Lung(261;0.00863)|LUSC - Lung squamous cell carcinoma(224;0.00902)	6	1248	-		all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138)	288					A8K536|B8ZZC3|O75415|Q569L3|Q9UBI8|Q9UET7	Silent	SNP	ENST00000264414.4	37	c.864G>A	CCDS2462.1																																																																																				0.338	CUL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256871.2			24	110	0	0	0	0	24	110				
CUL3	8452	broad.mit.edu	37	2	225378279	225378279	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr2:225378279C>G	ENST00000264414.4	-	5	954	c.616G>C	c.(616-618)Gag>Cag	p.E206Q	CUL3_ENST00000409096.1_Missense_Mutation_p.E182Q|CUL3_ENST00000344951.4_Missense_Mutation_p.E140Q|CUL3_ENST00000409777.1_Missense_Mutation_p.E182Q|CUL3_ENST00000432260.2_5'Flank	NM_003590.4	NP_003581.1	Q13618	CUL3_HUMAN	cullin 3	206					cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|COPII vesicle coating (GO:0048208)|cyclin catabolic process (GO:0008054)|embryonic cleavage (GO:0040016)|ER to Golgi vesicle-mediated transport (GO:0006888)|G1/S transition of mitotic cell cycle (GO:0000082)|gastrulation (GO:0007369)|integrin-mediated signaling pathway (GO:0007229)|intrinsic apoptotic signaling pathway (GO:0097193)|mitotic metaphase plate congression (GO:0007080)|negative regulation of Rho protein signal transduction (GO:0035024)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|stem cell division (GO:0017145)|stress fiber assembly (GO:0043149)|trophectodermal cellular morphogenesis (GO:0001831)|Wnt signaling pathway (GO:0016055)	Cul3-RING ubiquitin ligase complex (GO:0031463)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|nucleus (GO:0005634)|polar microtubule (GO:0005827)	POZ domain binding (GO:0031208)			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	46		all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138)		Epithelial(121;1.58e-11)|all cancers(144;1.43e-08)|Lung(261;0.00863)|LUSC - Lung squamous cell carcinoma(224;0.00902)		AAAGGAGCCTCAAAATCTTCT	0.308																																						uc002vny.2		NA																	0				upper_aerodigestive_tract(1)|ovary(1)|liver(1)|kidney(1)	4						c.(616-618)GAG>CAG		cullin 3							59.0	62.0	61.0					2																	225378279		2201	4300	6501	SO:0001583	missense	8452				cell cycle arrest|cell migration|cyclin catabolic process|cytokinesis|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|mitotic anaphase|negative regulation of Rho protein signal transduction|positive regulation of cell proliferation|protein ubiquitination|stress fiber assembly	Cul3-RING ubiquitin ligase complex|Golgi apparatus|nucleus|polar microtubule	ubiquitin protein ligase binding	g.chr2:225378279C>G	U58089	CCDS2462.1, CCDS58751.1	2q36.2	2011-05-24			ENSG00000036257	ENSG00000036257			2553	protein-coding gene	gene with protein product		603136				8681378, 17192413	Standard	NM_003590		Approved		uc002vny.3	Q13618	OTTHUMG00000133167	ENST00000264414.4:c.616G>C	2.37:g.225378279C>G	ENSP00000264414:p.Glu206Gln					CUL3_uc010zls.1_Missense_Mutation_p.E140Q|CUL3_uc010fwy.1_Missense_Mutation_p.E212Q	p.E206Q	NM_003590	NP_003581	Q13618	CUL3_HUMAN		Epithelial(121;1.58e-11)|all cancers(144;1.43e-08)|Lung(261;0.00863)|LUSC - Lung squamous cell carcinoma(224;0.00902)	5	1000	-		all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138)	206					A8K536|B8ZZC3|O75415|Q569L3|Q9UBI8|Q9UET7	Missense_Mutation	SNP	ENST00000264414.4	37	c.616G>C	CCDS2462.1	.	.	.	.	.	.	.	.	.	.	C	35	5.417747	0.96092	.	.	ENSG00000036257	ENST00000264414;ENST00000344951;ENST00000409096;ENST00000409777	D;D;D;D	0.82984	-1.67;-1.67;-1.67;-1.67	5.77	5.77	0.91146	Cullin, N-terminal (1);Cullin repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.93893	0.8046	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;1.0	D	0.94610	0.7803	10	0.72032	D	0.01	.	20.0562	0.97651	0.0:1.0:0.0:0.0	.	140;184;206	Q13618-3;Q53S54;Q13618	.;.;CUL3_HUMAN	Q	206;140;182;182	ENSP00000264414:E206Q;ENSP00000343601:E140Q;ENSP00000387200:E182Q;ENSP00000386525:E182Q	ENSP00000264414:E206Q	E	-	1	0	CUL3	225086523	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.484000	0.81180	2.758000	0.94735	0.644000	0.83932	GAG		0.308	CUL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256871.2			5	24	0	0	0	0	5	24				
TMEM230	29058	broad.mit.edu	37	20	5086842	5086842	+	Missense_Mutation	SNP	T	T	G			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr20:5086842T>G	ENST00000379286.2	-	4	634	c.214A>C	c.(214-216)Agc>Cgc	p.S72R	TMEM230_ENST00000379277.2_Missense_Mutation_p.S72R|TMEM230_ENST00000342308.5_Missense_Mutation_p.S135R|TMEM230_ENST00000379283.2_Missense_Mutation_p.S72R|TMEM230_ENST00000492419.1_5'UTR|TMEM230_ENST00000202834.7_Missense_Mutation_p.S72R|TMEM230_ENST00000379279.2_Missense_Mutation_p.S72R	NM_001009924.1	NP_001009924.1	Q96A57	TM230_HUMAN	transmembrane protein 230	72						integral component of membrane (GO:0016021)											ACCCCTTTGCTGATGTAGCCT	0.473																																						uc002wll.2		NA																	0					0						c.(214-216)AGC>CGC		hypothetical protein LOC29058 isoform 2							64.0	64.0	64.0					20																	5086842		2203	4300	6503	SO:0001583	missense	29058					integral to membrane		g.chr20:5086842T>G	AF161392	CCDS13086.1, CCDS33438.1	20p13	2012-03-16	2012-03-16	2012-03-16	ENSG00000089063	ENSG00000089063			15876	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 30"""	C20orf30			Standard	XM_005260713		Approved	HSPC274	uc002wlk.3	Q96A57	OTTHUMG00000031796	ENST00000379286.2:c.214A>C	20.37:g.5086842T>G	ENSP00000368588:p.Ser72Arg					C20orf30_uc010gbi.2_Missense_Mutation_p.S72R|C20orf30_uc002wlk.2_Missense_Mutation_p.S135R|C20orf30_uc002wlm.2_Missense_Mutation_p.S72R|C20orf30_uc002wln.2_Missense_Mutation_p.S72R|C20orf30_uc002wlo.2_RNA	p.S72R	NM_001009924	NP_001009924	Q96A57	CT030_HUMAN			4	680	-			72					B2RDM8|D3DVZ9|Q0VGC8|Q5TDS5|Q96ES2|Q9P0A7	Missense_Mutation	SNP	ENST00000379286.2	37	c.214A>C	CCDS13086.1	.	.	.	.	.	.	.	.	.	.	T	12.21	1.869970	0.33069	.	.	ENSG00000089063	ENST00000379283;ENST00000342308;ENST00000379299;ENST00000202834;ENST00000379286;ENST00000379279;ENST00000379277;ENST00000379276	T	0.44482	0.92	5.2	5.2	0.72013	.	0.088345	0.85682	D	0.000000	T	0.35068	0.0919	L	0.43152	1.355	0.42015	D	0.990955	B;B;P	0.43412	0.012;0.326;0.806	B;B;B	0.39876	0.011;0.139;0.312	T	0.10753	-1.0616	10	0.19147	T	0.46	-20.8885	14.3319	0.66564	0.0:0.0:0.0:1.0	.	72;72;135	Q5JWB9;Q96A57;Q96A57-2	.;CT030_HUMAN;.	R	72;135;72;72;72;72;72;72	ENSP00000341364:S135R	ENSP00000202834:S72R	S	-	1	0	C20orf30	5034842	0.996000	0.38824	1.000000	0.80357	0.888000	0.51559	2.508000	0.45450	2.302000	0.77476	0.533000	0.62120	AGC		0.473	TMEM230-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077846.1			3	85	0	0	0	0	3	85				
CFAP61	26074	broad.mit.edu	37	20	20054956	20054956	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr20:20054956C>G	ENST00000245957.5	+	4	381	c.305C>G	c.(304-306)aCg>aGg	p.T102R	C20orf26_ENST00000377309.2_5'UTR|C20orf26_ENST00000451767.2_Missense_Mutation_p.T102R|C20orf26_ENST00000389656.3_5'UTR|C20orf26_ENST00000377306.1_Missense_Mutation_p.T102R	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN		102										NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		CCCCTGAATACGTTGTTCATG	0.512																																						uc002wru.2		NA																	0				ovary(3)|pancreas(1)	4						c.(304-306)ACG>AGG		hypothetical protein LOC26074							249.0	203.0	218.0					20																	20054956		2203	4300	6503	SO:0001583	missense	26074							g.chr20:20054956C>G																												ENST00000245957.5:c.305C>G	20.37:g.20054956C>G	ENSP00000245957:p.Thr102Arg					C20orf26_uc010gcw.1_Missense_Mutation_p.T56R|C20orf26_uc010zse.1_Missense_Mutation_p.T102R|C20orf26_uc010zsf.1_Missense_Mutation_p.T102R	p.T102R	NM_015585	NP_056400	Q8NHU2	CT026_HUMAN		READ - Rectum adenocarcinoma(2;0.171)	4	381	+			102					A6NHA1|Q5JXV4|Q5TE18|Q8N5R9|Q96M59|Q9BQL2|Q9H127|Q9H128|Q9NQH4|Q9UFV8|Q9Y4V7	Missense_Mutation	SNP	ENST00000245957.5	37	c.305C>G	CCDS33447.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.370213	0.82573	.	.	ENSG00000089101	ENST00000340348;ENST00000343997;ENST00000389655;ENST00000245957;ENST00000377306;ENST00000377303;ENST00000475466;ENST00000451767	T;T;T;T;T;T	0.47528	0.84;0.84;0.84;0.84;0.84;0.84	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	T	0.67730	0.2924	M	0.72894	2.215	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;0.999	D;D;D;D	0.97110	0.999;0.997;1.0;0.981	T	0.70710	-0.4797	10	0.87932	D	0	.	14.8243	0.70097	0.0:1.0:0.0:0.0	.	102;102;56;102	Q8NHU2-3;F8W6K4;F8W6E2;Q8NHU2	.;.;.;CT026_HUMAN	R	56;102;102;102;102;102;102;102	ENSP00000345553:T56R;ENSP00000245957:T102R;ENSP00000366521:T102R;ENSP00000366518:T102R;ENSP00000417086:T102R;ENSP00000414537:T102R	ENSP00000245957:T102R	T	+	2	0	C20orf26	20002956	0.993000	0.37304	0.943000	0.38184	0.980000	0.70556	4.581000	0.60949	2.559000	0.86315	0.655000	0.94253	ACG		0.512	C20orf26-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078228.3			33	113	0	0	0	0	33	113				
CST1	1469	broad.mit.edu	37	20	23731396	23731396	+	Missense_Mutation	SNP	G	G	T	rs143815991		TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr20:23731396G>T	ENST00000304749.2	-	1	178	c.108C>A	c.(106-108)aaC>aaA	p.N36K	CST1_ENST00000398402.1_Missense_Mutation_p.N36K	NM_001898.2	NP_001889.2	P01037	CYTN_HUMAN	cystatin SN	36					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|negative regulation of endopeptidase activity (GO:0010951)	extracellular space (GO:0005615)	cysteine-type endopeptidase inhibitor activity (GO:0004869)			kidney(1)|large_intestine(1)|lung(8)|ovary(1)|stomach(1)|urinary_tract(1)	13	Lung NSC(19;0.0676)|all_lung(19;0.148)					TGAGGTCTGCGTTATAGATGC	0.572																																						uc002wtp.2		NA																	0				ovary(1)	1						c.(106-108)AAC>AAA		cystatin SN precursor							152.0	128.0	136.0					20																	23731396		2203	4300	6503	SO:0001583	missense	1469					extracellular region	cysteine-type endopeptidase inhibitor activity	g.chr20:23731396G>T	M19169	CCDS13160.1	20p11.2	2008-04-15			ENSG00000170373	ENSG00000170373			2473	protein-coding gene	gene with protein product		123855					Standard	NM_001898		Approved		uc002wtp.3	P01037	OTTHUMG00000032085	ENST00000304749.2:c.108C>A	20.37:g.23731396G>T	ENSP00000305731:p.Asn36Lys						p.N36K	NM_001898	NP_001889	P01037	CYTN_HUMAN			1	179	-	Lung NSC(19;0.0676)|all_lung(19;0.148)		36					Q96LE6|Q9UCQ6	Missense_Mutation	SNP	ENST00000304749.2	37	c.108C>A	CCDS13160.1	.	.	.	.	.	.	.	.	.	.	G	4.665	0.123641	0.08931	.	.	ENSG00000170373	ENST00000304749;ENST00000398402	T;T	0.26373	1.74;1.74	2.13	-4.26	0.03755	Proteinase inhibitor I25, cystatin (2);	1.128410	0.06726	N	0.775729	T	0.11707	0.0285	N	0.16266	0.395	0.09310	N	1	B	0.02656	0.0	B	0.08055	0.003	T	0.33624	-0.9861	10	0.13108	T	0.6	.	5.1328	0.14919	0.2068:0.3701:0.4231:0.0	.	36	P01037	CYTN_HUMAN	K	36	ENSP00000305731:N36K;ENSP00000381439:N36K	ENSP00000305731:N36K	N	-	3	2	CST1	23679396	0.000000	0.05858	0.001000	0.08648	0.040000	0.13550	-4.391000	0.00241	-1.278000	0.02408	0.184000	0.17185	AAC		0.572	CST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078351.2	NM_001898		7	63	1	0	1.13e-05	1.44e-05	7	63				
NEURL2	140825	broad.mit.edu	37	20	44519120	44519120	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr20:44519120G>C	ENST00000372518.4	-	1	806	c.511C>G	c.(511-513)Ctc>Gtc	p.L171V	CTSA_ENST00000372459.2_5'Flank|SPATA25_ENST00000372519.3_5'Flank|CTSA_ENST00000354880.5_5'Flank|CTSA_ENST00000191018.5_5'Flank|CTSA_ENST00000372484.3_5'Flank|RP3-337O18.9_ENST00000607703.1_RNA	NM_001278535.1|NM_080749.2	NP_001265464.1|NP_542787.1	Q9BR09	NEUL2_HUMAN	neuralized E3 ubiquitin protein ligase 2	171	NHR. {ECO:0000255|PROSITE- ProRule:PRU00400}.				intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)|sarcomere organization (GO:0045214)	muscle tendon junction (GO:0005927)|VCB complex (GO:0030891)				large_intestine(1)|lung(2)	3		Myeloproliferative disorder(115;0.0122)				TGGTCCAAGAGATGGCTGTAG	0.657											OREG0025985	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002xqg.1		NA																	0					0						c.(511-513)CTC>GTC		neuralized-like protein 2							34.0	39.0	38.0					20																	44519120		2201	4296	6497	SO:0001583	missense	140825				intracellular signal transduction			g.chr20:44519120G>C	AL008726	CCDS13384.1	20q13.12	2013-10-24	2013-10-24	2004-02-27	ENSG00000124257	ENSG00000124257			16156	protein-coding gene	gene with protein product		608597	"""chromosome 20 open reading frame 163"", ""neuralized-like 2 (Drosophila)"", ""neuralized homolog 2 (Drosophila)"""	C20orf163		12076535, 19723503	Standard	NM_001278535		Approved	dJ337O18.6, FLJ30259, Ozz, Ozz-E3	uc002xqg.2	Q9BR09	OTTHUMG00000032626	ENST00000372518.4:c.511C>G	20.37:g.44519120G>C	ENSP00000361596:p.Leu171Val		OREG0025985	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	924	C20orf165_uc002xqf.2_5'Flank|CTSA_uc002xqh.2_5'Flank|CTSA_uc002xqj.3_5'Flank|CTSA_uc002xqi.2_5'Flank|CTSA_uc010zxi.1_5'Flank|CTSA_uc002xqk.3_5'Flank	p.L171V	NM_080749	NP_542787	Q9BR09	NEUL2_HUMAN			1	782	-		Myeloproliferative disorder(115;0.0122)	171			NHR.		Q3KR34	Missense_Mutation	SNP	ENST00000372518.4	37	c.511C>G	CCDS13384.1	.	.	.	.	.	.	.	.	.	.	G	8.444	0.851507	0.17034	.	.	ENSG00000124257	ENST00000372518	T	0.44083	0.93	4.83	4.83	0.62350	NEUZ (1);	0.057349	0.64402	D	0.000002	T	0.29491	0.0735	L	0.36672	1.1	0.44908	D	0.997921	P	0.37441	0.595	B	0.31016	0.123	T	0.06899	-1.0801	9	.	.	.	-30.9748	12.6024	0.56504	0.0:0.0:0.7125:0.2875	.	171	Q9BR09	NEUL2_HUMAN	V	171	ENSP00000361596:L171V	.	L	-	1	0	NEURL2	43952527	1.000000	0.71417	0.996000	0.52242	0.730000	0.41778	3.653000	0.54446	2.514000	0.84764	0.561000	0.74099	CTC		0.657	NEURL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079539.2			10	77	0	0	0	0	10	77				
CSE1L	1434	broad.mit.edu	37	20	47704564	47704564	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr20:47704564C>A	ENST00000262982.2	+	17	1865	c.1742C>A	c.(1741-1743)tCt>tAt	p.S581Y	CSE1L_ENST00000542325.1_Missense_Mutation_p.S364Y|CSE1L_ENST00000396192.3_Missense_Mutation_p.S525Y	NM_001256135.1|NM_001316.3	NP_001243064.1|NP_001307.2	P55060	XPO2_HUMAN	CSE1 chromosome segregation 1-like (yeast)	581					apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	importin-alpha export receptor activity (GO:0008262)			breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	35			BRCA - Breast invasive adenocarcinoma(12;0.000491)|Colorectal(8;0.198)			AGAAGTTTTTCTCTCCTACAA	0.373																																						uc002xty.2		NA																	0				large_intestine(1)|skin(1)	2						c.(1741-1743)TCT>TAT		CSE1 chromosome segregation 1-like protein							93.0	88.0	89.0					20																	47704564		2203	4300	6503	SO:0001583	missense	1434				apoptosis|cell proliferation|intracellular protein transport	cytoplasm|nucleus	importin-alpha export receptor activity	g.chr20:47704564C>A	U33286	CCDS13412.1, CCDS58773.1	20q13	2013-05-01	2001-11-28		ENSG00000124207	ENSG00000124207		"""Exportins"""	2431	protein-coding gene	gene with protein product	"""cellular apoptosis susceptibility"""	601342	"""chromosome segregation 1 (yeast homolog)-like"""			8963895, 7479798	Standard	NM_001316		Approved	CAS, XPO2, CSE1	uc002xty.4	P55060	OTTHUMG00000033046	ENST00000262982.2:c.1742C>A	20.37:g.47704564C>A	ENSP00000262982:p.Ser581Tyr					CSE1L_uc010zyg.1_Missense_Mutation_p.S364Y|CSE1L_uc010ghx.2_Missense_Mutation_p.S525Y|CSE1L_uc010ghy.2_Missense_Mutation_p.S202Y|CSE1L_uc010zyh.1_Missense_Mutation_p.S230Y	p.S581Y	NM_001316	NP_001307	P55060	XPO2_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.000491)|Colorectal(8;0.198)		17	1876	+			581					A3RLL6|B2R5T4|E1P5Y0|F8W904|O75432|Q32M40|Q9H5B7|Q9NTS0|Q9UP98|Q9UP99|Q9UPA0	Missense_Mutation	SNP	ENST00000262982.2	37	c.1742C>A	CCDS13412.1	.	.	.	.	.	.	.	.	.	.	C	18.93	3.727912	0.69074	.	.	ENSG00000124207	ENST00000417408;ENST00000262982;ENST00000542325;ENST00000396192	T;T;T	0.47869	0.83;0.83;0.83	5.57	5.57	0.84162	Armadillo-like helical (1);Armadillo-type fold (1);CAS/CSE, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.59528	0.2200	M	0.75264	2.295	0.80722	D	1	D;D;P;P;D	0.57571	0.957;0.98;0.801;0.86;0.962	P;P;P;P;P	0.54706	0.546;0.759;0.629;0.496;0.675	T	0.58836	-0.7566	10	0.02654	T	1	-11.3931	19.5481	0.95308	0.0:1.0:0.0:0.0	.	270;364;525;525;581	F5GX54;B4DUC5;A3RLL6;F8W904;P55060	.;.;.;.;XPO2_HUMAN	Y	179;581;364;525	ENSP00000262982:S581Y;ENSP00000446477:S364Y;ENSP00000379495:S525Y	ENSP00000262982:S581Y	S	+	2	0	CSE1L	47137971	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.398000	0.79919	2.612000	0.88384	0.650000	0.86243	TCT		0.373	CSE1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080345.2	NM_001316		11	27	1	0	2.81e-09	3.7e-09	11	27				
CBLN4	140689	broad.mit.edu	37	20	54578941	54578941	+	Missense_Mutation	SNP	T	T	G			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr20:54578941T>G	ENST00000064571.2	-	1	1587	c.287A>C	c.(286-288)gAt>gCt	p.D96A		NM_080617.5	NP_542184.1	Q9NTU7	CBLN4_HUMAN	cerebellin 4 precursor	96	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.				protein secretion (GO:0009306)	cell junction (GO:0030054)|extracellular space (GO:0005615)|synapse (GO:0045202)				endometrium(2)|large_intestine(1)|lung(10)|ovary(3)|pancreas(1)	17			Colorectal(105;0.202)			TCTGACCTGATCGAAGTAAAT	0.647																																						uc002xxa.2		NA																	0				ovary(3)|pancreas(1)	4						c.(286-288)GAT>GCT		cerebellin 4 precursor							190.0	196.0	194.0					20																	54578941		2203	4300	6503	SO:0001583	missense	140689					cell junction|extracellular region|synapse		g.chr20:54578941T>G	AY358527	CCDS13448.1	20q13	2004-08-19	2004-08-19	2004-08-19	ENSG00000054803	ENSG00000054803			16231	protein-coding gene	gene with protein product		615029	"""cerebellin precursor-like 1"""	CBLNL1			Standard	NM_080617		Approved	dJ885A10.1	uc002xxa.4	Q9NTU7	OTTHUMG00000032782	ENST00000064571.2:c.287A>C	20.37:g.54578941T>G	ENSP00000064571:p.Asp96Ala						p.D96A	NM_080617	NP_542184	Q9NTU7	CBLN4_HUMAN	Colorectal(105;0.202)		1	1072	-			96			C1q.		A8K0S5	Missense_Mutation	SNP	ENST00000064571.2	37	c.287A>C	CCDS13448.1	.	.	.	.	.	.	.	.	.	.	T	32	5.156943	0.94686	.	.	ENSG00000054803	ENST00000064571	T	0.41758	0.99	5.31	5.31	0.75309	Tumour necrosis factor-like (2);Complement C1q protein (4);	0.000000	0.85682	D	0.000000	T	0.70272	0.3205	M	0.90483	3.12	0.80722	D	1	D	0.69078	0.997	D	0.71414	0.973	T	0.77963	-0.2390	10	0.87932	D	0	-19.2781	15.5564	0.76196	0.0:0.0:0.0:1.0	.	96	Q9NTU7	CBLN4_HUMAN	A	96	ENSP00000064571:D96A	ENSP00000064571:D96A	D	-	2	0	CBLN4	54012348	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.585000	0.82584	2.126000	0.65437	0.482000	0.46254	GAT		0.647	CBLN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079783.2	NM_080617		30	192	0	0	0	0	30	192				
ADAMTS5	11096	broad.mit.edu	37	21	28307044	28307044	+	Missense_Mutation	SNP	C	C	A	rs142161826		TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr21:28307044C>A	ENST00000284987.5	-	4	1551	c.1430G>T	c.(1429-1431)cGa>cTa	p.R477L	AP001601.2_ENST00000426771.1_RNA	NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 5	477					defense response to bacterium (GO:0042742)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						GATCTGCTTTCGTGGTAGGTC	0.507																																					Esophageal Squamous(53;683 1080 10100 14424 45938)	uc002ymg.2		NA																	0				upper_aerodigestive_tract(2)|ovary(1)|pancreas(1)	4						c.(1429-1431)CGA>CTA		ADAM metallopeptidase with thrombospondin type 1							78.0	69.0	72.0					21																	28307044		2203	4300	6503	SO:0001583	missense	11096				proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding	g.chr21:28307044C>A	AF142099	CCDS13579.1	21q21.3	2008-07-31	2008-07-31		ENSG00000154736	ENSG00000154736		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	221	protein-coding gene	gene with protein product	"""aggrecanase-2"""	605007	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 5 (aggrecanase-2)"""			10438522	Standard	NM_007038		Approved	ADMP-2, ADAMTS11	uc002ymg.3	Q9UNA0	OTTHUMG00000078686	ENST00000284987.5:c.1430G>T	21.37:g.28307044C>A	ENSP00000284987:p.Arg477Leu						p.R477L	NM_007038	NP_008969	Q9UNA0	ATS5_HUMAN			4	2159	-			477					Q52LV4|Q9UKP2	Missense_Mutation	SNP	ENST00000284987.5	37	c.1430G>T	CCDS13579.1	.	.	.	.	.	.	.	.	.	.	C	29.7	5.031230	0.93575	.	.	ENSG00000154736	ENST00000284987	T	0.08546	3.08	5.0	4.12	0.48240	Metallopeptidase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.04227	0.0117	N	0.08118	0	0.42331	D	0.992297	P	0.39624	0.681	B	0.32864	0.154	T	0.54214	-0.8327	10	0.30854	T	0.27	.	13.519	0.61557	0.0:0.9248:0.0:0.0752	.	477	Q9UNA0	ATS5_HUMAN	L	477	ENSP00000284987:R477L	ENSP00000284987:R477L	R	-	2	0	ADAMTS5	27228915	0.952000	0.32445	0.314000	0.25224	0.887000	0.51463	3.570000	0.53834	1.354000	0.45846	0.557000	0.71058	CGA		0.507	ADAMTS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171648.1			8	43	1	0	1.13e-05	1.44e-05	8	43				
IFNAR2	3455	broad.mit.edu	37	21	34624976	34624976	+	Missense_Mutation	SNP	G	G	A	rs147789575		TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr21:34624976G>A	ENST00000342136.4	+	7	876	c.550G>A	c.(550-552)Gaa>Aaa	p.E184K	IFNAR2_ENST00000382241.3_Missense_Mutation_p.E184K|IFNAR2_ENST00000382264.3_Missense_Mutation_p.E184K|IFNAR2_ENST00000404220.3_Missense_Mutation_p.E184K|IFNAR2_ENST00000342101.3_Missense_Mutation_p.E184K|AP000295.9_ENST00000433395.2_Silent_p.P91P|IFNAR2_ENST00000413881.1_Missense_Mutation_p.E112K			P48551	INAR2_HUMAN	interferon (alpha, beta and omega) receptor 2	184					cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|JAK-STAT cascade (GO:0007259)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to interferon-alpha (GO:0035455)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|type I interferon binding (GO:0019962)|type I interferon receptor activity (GO:0004905)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	11					"""""""Interferon Alfa-2a(DB00034)|""""Interferon Alfa-2b(DB00105)|Interferon alfa-n1(DB00011)|Interferon alfa-n3(DB00018)|Interferon alfacon-1(DB00069)|Interferon beta-1a(DB00060)|Interferon beta-1b(DB00068)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022)"""	GCATAAACCCGAAATAAAAGG	0.333													G|||	1	0.000199681	0.0	0.0	5008	,	,		20288	0.0		0.001	False		,,,				2504	0.0					uc002yrd.2		NA																	0					0						c.(550-552)GAA>AAA		interferon alpha/beta receptor 2 isoform a	Interferon Alfa-2a, Recombinant(DB00034)|Interferon Alfa-2b, Recombinant(DB00105)|Interferon alfa-n1(DB00011)|Interferon alfa-n3(DB00018)|Interferon alfacon-1(DB00069)|Interferon beta-1b(DB00068)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022)	G	LYS/GLU,LYS/GLU,LYS/GLU	1,4405	2.1+/-5.4	0,1,2202	66.0	63.0	64.0		550,550,550	-8.2	0.0	21	dbSNP_134	64	3,8597	3.0+/-9.4	0,3,4297	yes	missense,missense,missense	IFNAR2	NM_000874.3,NM_207584.1,NM_207585.1	56,56,56	0,4,6499	AA,AG,GG		0.0349,0.0227,0.0308	benign,benign,benign	184/332,184/332,184/516	34624976	4,13002	2203	4300	6503	SO:0001583	missense	3455				JAK-STAT cascade|regulation of type I interferon-mediated signaling pathway|response to interferon-alpha|response to virus|type I interferon-mediated signaling pathway	extracellular region|extracellular space|integral to plasma membrane	protein kinase binding|type I interferon binding|type I interferon receptor activity	g.chr21:34624976G>A		CCDS13621.1, CCDS13622.1, CCDS74782.1	21q22.1	2010-08-17			ENSG00000159110	ENSG00000159110		"""Interferons"""	5433	protein-coding gene	gene with protein product		602376		IFNABR		8181059	Standard	NM_207585		Approved		uc002yrd.3	P48551	OTTHUMG00000065127	ENST00000342136.4:c.550G>A	21.37:g.34624976G>A	ENSP00000343957:p.Glu184Lys					IFNAR2_uc002yrb.2_Missense_Mutation_p.E184K|IFNAR2_uc002yrc.2_Missense_Mutation_p.E184K|IFNAR2_uc002yre.2_Missense_Mutation_p.E184K|IFNAR2_uc002yrf.2_Missense_Mutation_p.E184K|IFNAR2_uc002yrg.2_Missense_Mutation_p.E53K|IL10RB_uc002yrh.1_Missense_Mutation_p.E34K|IL10RB_uc002yri.1_5'UTR	p.E184K	NM_207585	NP_997468	P48551	INAR2_HUMAN			7	878	+			184			Extracellular (Potential).		A8KAJ4|D3DSE8|D3DSE9|Q15467|Q6FHD7	Missense_Mutation	SNP	ENST00000342136.4	37	c.550G>A	CCDS13621.1	.	.	.	.	.	.	.	.	.	.	G	4.039	0.004920	0.07866	2.27E-4	3.49E-4	ENSG00000159110	ENST00000382264;ENST00000404220;ENST00000382241;ENST00000342136;ENST00000342101;ENST00000413881;ENST00000443073	T;T;T;T;T;T;T	0.47177	0.85;0.85;0.85;0.85;0.85;0.85;0.85	4.13	-8.25	0.01025	Fibronectin, type III (1);Interferon alpha/beta receptor, beta chain (1);Immunoglobulin-like fold (1);	4.530220	0.00508	N	0.000161	T	0.26231	0.0640	N	0.19112	0.55	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.42224	-0.9464	10	0.02654	T	1	.	10.159	0.42840	0.162:0.5312:0.3068:0.0	.	184;184;184	P48551-3;P48551;P48551-2	.;INAR2_HUMAN;.	K	184;184;184;184;184;112;112	ENSP00000371699:E184K;ENSP00000384309:E184K;ENSP00000371676:E184K;ENSP00000343957:E184K;ENSP00000343289:E184K;ENSP00000413160:E112K;ENSP00000403569:E112K	ENSP00000343289:E184K	E	+	1	0	IFNAR2	33546846	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.643000	0.02004	-2.669000	0.00415	-1.267000	0.01435	GAA		0.333	IFNAR2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139825.1			12	25	0	0	0	0	12	25				
PIK3IP1	113791	broad.mit.edu	37	22	31679217	31679217	+	Silent	SNP	T	T	A	rs145125391		TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr22:31679217T>A	ENST00000215912.5	-	6	828	c.645A>T	c.(643-645)cgA>cgT	p.R215R	PIK3IP1_ENST00000441972.1_3'UTR|PIK3IP1_ENST00000487265.2_Silent_p.R136R	NM_052880.4	NP_443112.2	Q96FE7	P3IP1_HUMAN	phosphoinositide-3-kinase interacting protein 1	215					negative regulation of phosphatidylinositol 3-kinase activity (GO:0043553)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	phosphatidylinositol 3-kinase catalytic subunit binding (GO:0036313)			large_intestine(2)|lung(1)|ovary(1)	4						GCAGAGTGATTCGCTGCATCT	0.507																																						uc003akm.2		NA																	0				ovary(1)	1						c.(643-645)CGA>CGT		HGFL protein isoform 1							131.0	96.0	108.0					22																	31679217		2203	4300	6503	SO:0001819	synonymous_variant	113791					integral to membrane		g.chr22:31679217T>A	BC011049	CCDS13893.1, CCDS46690.1	22q12.2	2007-04-13			ENSG00000100100	ENSG00000100100			24942	protein-coding gene	gene with protein product						12477932	Standard	NM_052880		Approved	HGFL, MGC17330	uc003akm.3	Q96FE7	OTTHUMG00000151256	ENST00000215912.5:c.645A>T	22.37:g.31679217T>A						PIK3IP1_uc003akl.2_RNA|PIK3IP1_uc011alo.1_3'UTR|PIK3IP1_uc003akn.2_Silent_p.R195R	p.R215R	NM_052880	NP_443112	Q96FE7	P3IP1_HUMAN			6	835	-			215			Cytoplasmic (Potential).		B4DRR9|D1MEI0|O00318|Q49A94|Q86YW2|Q8NCJ9	Silent	SNP	ENST00000215912.5	37	c.645A>T	CCDS13893.1																																																																																				0.507	PIK3IP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321939.1	NM_052880		15	71	0	0	0	0	15	71				
LARGE	9215	broad.mit.edu	37	22	34157394	34157394	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr22:34157394T>C	ENST00000354992.2	-	3	641	c.70A>G	c.(70-72)Atc>Gtc	p.I24V	LARGE_ENST00000397394.2_Missense_Mutation_p.I24V|LARGE_ENST00000437602.2_Missense_Mutation_p.I24V|LARGE_ENST00000337431.2_Missense_Mutation_p.I24V|LARGE_ENST00000402320.1_Missense_Mutation_p.I24V	NM_004737.4	NP_004728.1	O95461	LARGE_HUMAN	like-glycosyltransferase	24					glycoprotein biosynthetic process (GO:0009101)|glycosphingolipid biosynthetic process (GO:0006688)|muscle cell cellular homeostasis (GO:0046716)|N-acetylglucosamine metabolic process (GO:0006044)|protein glycosylation (GO:0006486)	integral component of Golgi membrane (GO:0030173)	acetylglucosaminyltransferase activity (GO:0008375)|transferase activity, transferring glycosyl groups (GO:0016757)			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(1;0.219)				ATCCAGGTGATGGCTGGGATG	0.507																																					Colon(70;397 1175 4573 19089 45288)	uc003and.3		NA																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(70-72)ATC>GTC		like-glycosyltransferase							153.0	146.0	148.0					22																	34157394		2203	4300	6503	SO:0001583	missense	9215				glycosphingolipid biosynthetic process|muscle cell homeostasis|N-acetylglucosamine metabolic process|protein glycosylation	integral to Golgi membrane	acetylglucosaminyltransferase activity	g.chr22:34157394T>C	AJ007583	CCDS13912.1	22q12.3	2013-02-22			ENSG00000133424	ENSG00000133424		"""Glycosyltransferase family 8 domain containing"""	6511	protein-coding gene	gene with protein product		603590				9892679, 10591208, 12966029	Standard	NM_004737		Approved	KIAA0609	uc003ane.4	O95461	OTTHUMG00000150914	ENST00000354992.2:c.70A>G	22.37:g.34157394T>C	ENSP00000347088:p.Ile24Val					LARGE_uc003ane.3_Missense_Mutation_p.I24V|LARGE_uc010gwp.2_Missense_Mutation_p.I24V|LARGE_uc011ame.1_Intron|LARGE_uc011amf.1_Missense_Mutation_p.I24V	p.I24V	NM_004737	NP_004728	O95461	LARGE_HUMAN			3	649	-		Lung NSC(1;0.219)	24			Helical; Signal-anchor for type II membrane protein; (Potential).		B0QXZ7|O60348|Q17R80|Q9UGD1|Q9UGE7|Q9UGG3|Q9UGZ8|Q9UH22	Missense_Mutation	SNP	ENST00000354992.2	37	c.70A>G	CCDS13912.1	.	.	.	.	.	.	.	.	.	.	T	9.643	1.139417	0.21205	.	.	ENSG00000133424	ENST00000354992;ENST00000337431;ENST00000397394;ENST00000402320;ENST00000437602;ENST00000430220;ENST00000413114;ENST00000434071;ENST00000432776;ENST00000423375	T;T;T;T;T;T;T;T	0.50813	1.22;1.21;1.22;1.21;0.73;1.52;1.53;1.53	5.83	-5.51	0.02568	.	0.444709	0.24786	N	0.035604	T	0.20007	0.0481	N	0.08118	0	0.80722	D	1	B;B;B	0.14012	0.009;0.0;0.0	B;B;B	0.12156	0.007;0.0;0.0	T	0.03587	-1.1022	10	0.25106	T	0.35	.	9.6221	0.39727	0.0:0.4086:0.1738:0.4176	.	24;24;24	B7Z2I9;O95461-2;O95461	.;.;LARGE_HUMAN	V	24	ENSP00000347088:I24V;ENSP00000336636:I24V;ENSP00000380549:I24V;ENSP00000385223:I24V;ENSP00000388544:I24V;ENSP00000396277:I24V;ENSP00000415546:I24V;ENSP00000389605:I24V	ENSP00000336636:I24V	I	-	1	0	LARGE	32487394	0.738000	0.28186	0.881000	0.34555	0.977000	0.68977	-0.181000	0.09740	-1.145000	0.02858	-0.274000	0.10170	ATC		0.507	LARGE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320515.2	NM_133642		24	100	0	0	0	0	24	100				
PLXNB2	23654	broad.mit.edu	37	22	50727227	50727227	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr22:50727227C>T	ENST00000449103.1	-	5	1465	c.1325G>A	c.(1324-1326)cGc>cAc	p.R442H	PLXNB2_ENST00000496720.1_5'Flank|PLXNB2_ENST00000359337.4_Missense_Mutation_p.R442H			O15031	PLXB2_HUMAN	plexin B2	442	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				brain development (GO:0007420)|neural tube closure (GO:0001843)|neuroblast proliferation (GO:0007405)|positive regulation of axonogenesis (GO:0050772)|regulation of cell shape (GO:0008360)|regulation of neuron migration (GO:2001222)|regulation of protein phosphorylation (GO:0001932)|regulation of Rho GTPase activity (GO:0032319)|semaphorin-plexin signaling pathway (GO:0071526)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)	GTPase activator activity (GO:0005096)|semaphorin receptor activity (GO:0017154)			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		TACCAGGTCGCGCTTGACTCT	0.607																																						uc003bkv.3		NA																	0				ovary(4)|central_nervous_system(1)|skin(1)	6						c.(1324-1326)CGC>CAC		plexin B2 precursor							60.0	63.0	62.0					22																	50727227		2135	4238	6373	SO:0001583	missense	23654				regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity	g.chr22:50727227C>T		CCDS43035.1	22q13.33	2008-06-12			ENSG00000196576	ENSG00000196576		"""Plexins"""	9104	protein-coding gene	gene with protein product		604293				10520995, 12183458	Standard	NM_012401		Approved	MM1, KIAA0315, PLEXB2	uc003bkv.4	O15031	OTTHUMG00000150219	ENST00000449103.1:c.1325G>A	22.37:g.50727227C>T	ENSP00000409171:p.Arg442His						p.R442H	NM_012401	NP_036533	O15031	PLXB2_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	5	1431	-		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	442			Extracellular (Potential).|Sema.		A6QRH0|Q7KZU3|Q9BSU7	Missense_Mutation	SNP	ENST00000449103.1	37	c.1325G>A	CCDS43035.1	.	.	.	.	.	.	.	.	.	.	C	7.577	0.667884	0.14710	.	.	ENSG00000196576	ENST00000449103;ENST00000359337;ENST00000414275;ENST00000432455	T;T;T	0.04862	3.54;3.54;3.54	4.72	-2.14	0.07123	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (3);	2.835000	0.01222	N	0.008122	T	0.05777	0.0151	N	0.25957	0.775	0.09310	N	1	B	0.25667	0.131	B	0.16722	0.016	T	0.39603	-0.9606	10	0.29301	T	0.29	.	10.0533	0.42230	0.0:0.4358:0.0:0.5642	.	442	O15031	PLXB2_HUMAN	H	442	ENSP00000409171:R442H;ENSP00000352288:R442H;ENSP00000392620:R442H	ENSP00000352288:R442H	R	-	2	0	PLXNB2	49069354	0.000000	0.05858	0.610000	0.28997	0.053000	0.15095	-0.859000	0.04277	-0.339000	0.08401	-0.459000	0.05422	CGC		0.607	PLXNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316874.3	NM_012401		10	40	0	0	0	0	10	40				
CNTN6	27255	broad.mit.edu	37	3	1367528	1367528	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr3:1367528A>T	ENST00000446702.2	+	9	1603	c.976A>T	c.(976-978)Aat>Tat	p.N326Y	CNTN6_ENST00000539053.1_Missense_Mutation_p.N254Y|CNTN6_ENST00000350110.2_Missense_Mutation_p.N326Y			Q9UQ52	CNTN6_HUMAN	contactin 6	326	Ig-like C2-type 4.				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)		GAAAATCCAAAATACACACCT	0.403																																						uc003boz.2		NA																	0				skin(3)|lung(2)|breast(2)|pancreas(1)	8						c.(976-978)AAT>TAT		contactin 6 precursor							116.0	108.0	111.0					3																	1367528		2203	4300	6503	SO:0001583	missense	27255				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane		g.chr3:1367528A>T	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.976A>T	3.37:g.1367528A>T	ENSP00000407822:p.Asn326Tyr					CNTN6_uc011asj.1_Missense_Mutation_p.N254Y|CNTN6_uc003bpa.2_Missense_Mutation_p.N326Y	p.N326Y	NM_014461	NP_055276	Q9UQ52	CNTN6_HUMAN		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)	9	1243	+		all_cancers(2;0.000164)|all_epithelial(2;0.107)	326			Ig-like C2-type 4.		Q2KHM2	Missense_Mutation	SNP	ENST00000446702.2	37	c.976A>T	CCDS2557.1	.	.	.	.	.	.	.	.	.	.	A	16.93	3.258259	0.59321	.	.	ENSG00000134115	ENST00000446702;ENST00000539053;ENST00000350110	T;T;T	0.68624	-0.34;-0.34;-0.34	5.26	1.66	0.24008	Immunoglobulin I-set (1);Immunoglobulin-like (1);	0.203086	0.33980	N	0.004368	T	0.72843	0.3511	M	0.65677	2.01	0.34148	D	0.66722	D	0.54397	0.966	P	0.59424	0.857	T	0.77897	-0.2416	10	0.87932	D	0	.	7.6809	0.28513	0.7633:0.0:0.2367:0.0	.	326	Q9UQ52	CNTN6_HUMAN	Y	326;254;326	ENSP00000407822:N326Y;ENSP00000442791:N254Y;ENSP00000341882:N326Y	ENSP00000341882:N326Y	N	+	1	0	CNTN6	1342528	0.974000	0.33945	0.944000	0.38274	0.987000	0.75469	1.808000	0.38912	0.334000	0.23590	0.528000	0.53228	AAT		0.403	CNTN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239235.2	NM_014461		11	40	0	0	0	0	11	40				
CCR3	1232	broad.mit.edu	37	3	46307687	46307687	+	Silent	SNP	A	A	T			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr3:46307687A>T	ENST00000357422.2	+	4	1581	c.1038A>T	c.(1036-1038)acA>acT	p.T346T	CCR3_ENST00000545097.1_Silent_p.T367T|CCR3_ENST00000541018.1_Silent_p.T346T|CCR3_ENST00000395942.2_Silent_p.T346T|CCR3_ENST00000395940.2_Silent_p.T346T			P51677	CCR3_HUMAN	chemokine (C-C motif) receptor 3	346					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cell adhesion (GO:0007155)|cellular defense response (GO:0006968)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|inflammatory response (GO:0006954)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of endothelial cell proliferation (GO:0001938)|viral process (GO:0016032)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|chemokine receptor activity (GO:0004950)			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(3)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(193;0.00119)|KIRC - Kidney renal clear cell carcinoma(197;0.0183)|Kidney(197;0.0216)		CTCCATCCACAGCAGAGCCGG	0.488																																						uc003cpg.1		NA																	0				ovary(3)|lung(3)|breast(1)|kidney(1)	8						c.(1036-1038)ACA>ACT		CC chemokine receptor 3 isoform 1							52.0	49.0	50.0					3																	46307687		2203	4300	6503	SO:0001819	synonymous_variant	1232				cell adhesion|cellular defense response|chemotaxis|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cAMP nucleotide second messenger|inflammatory response|interspecies interaction between organisms|positive regulation of angiogenesis	integral to plasma membrane		g.chr3:46307687A>T	AF247361	CCDS2738.1, CCDS54574.1	3p21.3	2012-08-08			ENSG00000183625	ENSG00000183625		"""GPCR / Class A : Chemokine receptors : C-C motif"", ""CD molecules"""	1604	protein-coding gene	gene with protein product		601268		CMKBR3			Standard	NM_178328		Approved	CC-CKR-3, CKR3, CD193	uc003cpk.2	P51677	OTTHUMG00000133484	ENST00000357422.2:c.1038A>T	3.37:g.46307687A>T						CCR3_uc003cpi.1_Silent_p.T346T|CCR3_uc003cpj.1_Silent_p.T346T|CCR3_uc003cpk.1_Silent_p.T367T|CCR3_uc010hjb.1_Silent_p.T364T|CCR3_uc003cpl.1_Silent_p.T379T	p.T346T	NM_178329	NP_847899	P51677	CCR3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00119)|KIRC - Kidney renal clear cell carcinoma(197;0.0183)|Kidney(197;0.0216)	4	1581	+			346			Cytoplasmic (Potential).		B3KVQ1|F5GWL6|Q15748|Q2YDB9|Q86WD2|Q8TDP6|Q9ULY8	Silent	SNP	ENST00000357422.2	37	c.1038A>T	CCDS2738.1																																																																																				0.488	CCR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257380.2			14	28	0	0	0	0	14	28				
TSC22D2	9819	broad.mit.edu	37	3	150128558	150128558	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr3:150128558G>A	ENST00000361875.3	+	1	2437	c.1421G>A	c.(1420-1422)gGg>gAg	p.G474E	TSC22D2_ENST00000361136.2_Missense_Mutation_p.G474E	NM_014779.2	NP_055594.1	O75157	T22D2_HUMAN	TSC22 domain family, member 2	474					response to osmotic stress (GO:0006970)		sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	18			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			GGTCCTGCCGGGGCTGGGCAG	0.726																																						uc003exv.2		NA																	0				ovary(1)	1						c.(1420-1422)GGG>GAG		TSC22 domain family, member 2							18.0	19.0	18.0					3																	150128558		2197	4298	6495	SO:0001583	missense	9819						sequence-specific DNA binding transcription factor activity	g.chr3:150128558G>A	AB014569	CCDS3149.1	3q25.1	2005-03-01			ENSG00000196428	ENSG00000196428			29095	protein-coding gene	gene with protein product						9734811	Standard	NM_014779		Approved	KIAA0669, TILZ4a, TILZ4b, TILZ4c	uc003exv.3	O75157	OTTHUMG00000159744	ENST00000361875.3:c.1421G>A	3.37:g.150128558G>A	ENSP00000354543:p.Gly474Glu					TSC22D2_uc003exw.2_RNA|TSC22D2_uc003exx.2_Missense_Mutation_p.G474E	p.G474E	NM_014779	NP_055594	O75157	T22D2_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)		1	1771	+			474					D3DNI5|Q6PI50|Q9H2Z6|Q9H2Z7|Q9H2Z8	Missense_Mutation	SNP	ENST00000361875.3	37	c.1421G>A	CCDS3149.1	.	.	.	.	.	.	.	.	.	.	G	14.54	2.565426	0.45694	.	.	ENSG00000196428	ENST00000361875;ENST00000361136	T;T	0.49139	0.79;1.21	3.56	3.56	0.40772	.	0.000000	0.48286	D	0.000194	T	0.54287	0.1849	L	0.29908	0.895	0.23478	N	0.997597	D;D	0.71674	0.998;0.997	D;P	0.66351	0.943;0.879	T	0.50276	-0.8847	10	0.54805	T	0.06	.	15.3204	0.74117	0.0:0.0:1.0:0.0	.	474;474	O75157-2;O75157	.;T22D2_HUMAN	E	474	ENSP00000354543:G474E;ENSP00000354893:G474E	ENSP00000354893:G474E	G	+	2	0	TSC22D2	151611248	0.998000	0.40836	0.722000	0.30670	0.481000	0.33189	2.544000	0.45761	2.007000	0.58848	0.563000	0.77884	GGG		0.726	TSC22D2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000357123.2	NM_014779		6	44	0	0	0	0	6	44				
MED12L	116931	broad.mit.edu	37	3	151101967	151101967	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr3:151101967G>T	ENST00000474524.1	+	33	4820	c.4782G>T	c.(4780-4782)gaG>gaT	p.E1594D	MED12L_ENST00000273432.4_Missense_Mutation_p.E1454D|P2RY12_ENST00000302632.3_Intron	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	1594						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GATCTGAAGAGAACAAGCGTG	0.378																																						uc003eyp.2		NA																	0				ovary(4)|large_intestine(1)|central_nervous_system(1)|skin(1)	7						c.(4780-4782)GAG>GAT		mediator of RNA polymerase II transcription,							121.0	118.0	119.0					3																	151101967		2203	4300	6503	SO:0001583	missense	116931				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex		g.chr3:151101967G>T	AB046855, AF388364	CCDS33876.1	3q25.1	2007-07-30	2007-07-30		ENSG00000144893	ENSG00000144893			16050	protein-coding gene	gene with protein product		611318	"""mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)-like"""			11524702	Standard	XM_006713487		Approved	KIAA1635, TNRC11L, TRALPUSH, TRALP	uc003eyp.3	Q86YW9	OTTHUMG00000159844	ENST00000474524.1:c.4782G>T	3.37:g.151101967G>T	ENSP00000417235:p.Glu1594Asp					MED12L_uc011bnz.1_Missense_Mutation_p.E1454D|P2RY12_uc011boa.1_Intron|P2RY12_uc003eyx.1_Intron|MED12L_uc003eyy.1_Missense_Mutation_p.E757D	p.E1594D	NM_053002	NP_443728	Q86YW9	MD12L_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		33	4820	+			1594					Q96PC7|Q96PC8|Q9H9M5|Q9HCD7|Q9UI69	Missense_Mutation	SNP	ENST00000474524.1	37	c.4782G>T	CCDS33876.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.096519	0.76870	.	.	ENSG00000144893	ENST00000474524;ENST00000273432	T;T	0.64438	0.09;-0.1	5.45	3.32	0.38043	.	0.000000	0.85682	D	0.000000	T	0.63943	0.2554	N	0.19112	0.55	0.80722	D	1	P;D;D	0.61697	0.851;0.99;0.984	P;D;D	0.70935	0.493;0.971;0.956	T	0.68232	-0.5463	10	0.87932	D	0	-30.8073	11.8635	0.52480	0.2113:0.0:0.7887:0.0	.	1454;1593;1594	F8WAE6;Q86YW9-4;Q86YW9	.;.;MD12L_HUMAN	D	1594;1454	ENSP00000417235:E1594D;ENSP00000273432:E1454D	ENSP00000273432:E1454D	E	+	3	2	MED12L	152584657	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	1.363000	0.34159	1.295000	0.44724	0.655000	0.94253	GAG		0.378	MED12L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357707.2	NM_053002		50	44	1	0	6.32e-29	8.74e-29	50	44				
SI	6476	broad.mit.edu	37	3	164737435	164737435	+	Silent	SNP	C	C	T			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr3:164737435C>T	ENST00000264382.3	-	28	3440	c.3378G>A	c.(3376-3378)ctG>ctA	p.L1126L		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1126	Sucrase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)|Scopolamine(DB00747)	TATTCCAGTTCAGATCTCGCT	0.433										HNSCC(35;0.089)																												uc003fei.2		NA																	0				ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1)	14						c.(3376-3378)CTG>CTA		sucrase-isomaltase	Acarbose(DB00284)						144.0	134.0	137.0					3																	164737435		2203	4300	6503	SO:0001819	synonymous_variant	6476				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity	g.chr3:164737435C>T	X63597	CCDS3196.1	3q25.2-q26.2	2004-04-06	2004-04-06		ENSG00000090402	ENSG00000090402	3.2.1.10		10856	protein-coding gene	gene with protein product	"""Oligosaccharide alpha-1,6-glucosidase"""	609845	"""sucrase-isomaltase"""			2962903, 1353958	Standard	NM_001041		Approved		uc003fei.3	P14410	OTTHUMG00000158065	ENST00000264382.3:c.3378G>A	3.37:g.164737435C>T		HNSCC(35;0.089)					p.L1126L	NM_001041	NP_001032	P14410	SUIS_HUMAN			28	3440	-		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)	1126			Sucrase.|Lumenal.		A2RUC3|Q1JQ80|Q1RMC2	Silent	SNP	ENST00000264382.3	37	c.3378G>A	CCDS3196.1																																																																																				0.433	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350116.1	NM_001041		38	158	0	0	0	0	38	158				
SI	6476	broad.mit.edu	37	3	164777770	164777770	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr3:164777770G>T	ENST00000264382.3	-	10	1128	c.1066C>A	c.(1066-1068)Caa>Aaa	p.Q356K		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	356	Isomaltase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)|Scopolamine(DB00747)	CGACTTAGTTGGAATCCAAGA	0.363										HNSCC(35;0.089)																												uc003fei.2		NA																	0				ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1)	14						c.(1066-1068)CAA>AAA		sucrase-isomaltase	Acarbose(DB00284)						123.0	134.0	130.0					3																	164777770		2203	4300	6503	SO:0001583	missense	6476				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity	g.chr3:164777770G>T	X63597	CCDS3196.1	3q25.2-q26.2	2004-04-06	2004-04-06		ENSG00000090402	ENSG00000090402	3.2.1.10		10856	protein-coding gene	gene with protein product	"""Oligosaccharide alpha-1,6-glucosidase"""	609845	"""sucrase-isomaltase"""			2962903, 1353958	Standard	NM_001041		Approved		uc003fei.3	P14410	OTTHUMG00000158065	ENST00000264382.3:c.1066C>A	3.37:g.164777770G>T	ENSP00000264382:p.Gln356Lys	HNSCC(35;0.089)					p.Q356K	NM_001041	NP_001032	P14410	SUIS_HUMAN			10	1128	-		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)	356			Lumenal.|Isomaltase.		A2RUC3|Q1JQ80|Q1RMC2	Missense_Mutation	SNP	ENST00000264382.3	37	c.1066C>A	CCDS3196.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.655706	0.88056	.	.	ENSG00000090402	ENST00000264382	D	0.91351	-2.83	5.49	5.49	0.81192	Glycoside hydrolase, superfamily (1);	0.048969	0.85682	D	0.000000	D	0.97232	0.9095	H	0.97103	3.94	0.58432	D	0.999995	D	0.89917	1.0	D	0.91635	0.999	D	0.98047	1.0385	10	0.62326	D	0.03	.	19.362	0.94445	0.0:0.0:1.0:0.0	.	356	P14410	SUIS_HUMAN	K	356	ENSP00000264382:Q356K	ENSP00000264382:Q356K	Q	-	1	0	SI	166260464	1.000000	0.71417	0.999000	0.59377	0.802000	0.45316	8.909000	0.92647	2.568000	0.86640	0.484000	0.47621	CAA		0.363	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350116.1	NM_001041		44	420	1	0	1.23e-20	1.68e-20	44	420				
NAALADL2	254827	broad.mit.edu	37	3	175184818	175184818	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr3:175184818G>A	ENST00000454872.1	+	8	1507	c.1379G>A	c.(1378-1380)gGa>gAa	p.G460E	NAALADL2_ENST00000473253.1_3'UTR	NM_207015.2	NP_996898.2	Q58DX5	NADL2_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 2	460						integral component of membrane (GO:0016021)				central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(20)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	49	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)		AGTTATAATGGACAAGAATGG	0.408																																						uc003fit.2		NA																	0				pancreas(1)	1						c.(1378-1380)GGA>GAA		N-acetylated alpha-linked acidic dipeptidase 2							219.0	212.0	214.0					3																	175184818		1984	4165	6149	SO:0001583	missense	254827				proteolysis	integral to membrane	peptidase activity	g.chr3:175184818G>A		CCDS46960.1	3q26.3	2011-08-16			ENSG00000177694	ENSG00000177694			23219	protein-coding gene	gene with protein product	"""glutamate carboxypeptidase II-type non-peptidase homologue"""	608806				15168106	Standard	NM_207015		Approved		uc003fir.3	Q58DX5	OTTHUMG00000157120	ENST00000454872.1:c.1379G>A	3.37:g.175184818G>A	ENSP00000404705:p.Gly460Glu					NAALADL2_uc003fiu.1_Missense_Mutation_p.G453E|NAALADL2_uc010hwy.1_Missense_Mutation_p.G234E|NAALADL2_uc010hwz.1_Missense_Mutation_p.G54E	p.G460E	NM_207015	NP_996898	Q58DX5	NADL2_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)	8	1466	+	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	460			Extracellular (Potential).		Q658X9|Q6H9J8|Q6H9J9|Q6PG38	Missense_Mutation	SNP	ENST00000454872.1	37	c.1379G>A	CCDS46960.1	.	.	.	.	.	.	.	.	.	.	G	7.754	0.703954	0.15172	.	.	ENSG00000177694	ENST00000454872	D	0.92699	-3.09	5.58	4.7	0.59300	Peptidase M28 (1);	2.765000	0.00976	N	0.003317	D	0.92433	0.7598	M	0.74467	2.265	0.09310	N	1	P	0.40578	0.722	B	0.39617	0.305	T	0.79160	-0.1918	10	0.87932	D	0	-2.6746	7.1922	0.25832	0.1437:0.1445:0.7118:0.0	.	460	Q58DX5	NADL2_HUMAN	E	460	ENSP00000404705:G460E	ENSP00000404705:G460E	G	+	2	0	NAALADL2	176667512	0.928000	0.31464	0.459000	0.27081	0.092000	0.18411	2.503000	0.45407	1.345000	0.45676	-0.291000	0.09656	GGA		0.408	NAALADL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347390.2	NM_207015		7	555	0	0	0	0	7	555				
ZNF639	51193	broad.mit.edu	37	3	179051488	179051488	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr3:179051488A>G	ENST00000326361.3	+	7	1181	c.736A>G	c.(736-738)Atg>Gtg	p.M246V	ZNF639_ENST00000484866.1_Missense_Mutation_p.M246V|ZNF639_ENST00000466663.1_3'UTR|ZNF639_ENST00000496856.1_Missense_Mutation_p.M246V	NM_016331.1	NP_057415.1	Q9UID6	ZN639_HUMAN	zinc finger protein 639	246					negative regulation by host of viral transcription (GO:0043922)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of cell growth (GO:0030307)|transcription, DNA-templated (GO:0006351)|viral entry into host cell (GO:0046718)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein self-association (GO:0043621)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(10)|urinary_tract(1)	16	all_cancers(143;7.9e-17)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0923)			CTCTACCAATATGCTTCTGAT	0.368																																						uc003fjq.1		NA																	0					0						c.(736-738)ATG>GTG		zinc finger protein 639							81.0	75.0	77.0					3																	179051488		2203	4300	6503	SO:0001583	missense	51193				initiation of viral infection|negative regulation by host of viral transcription|negative regulation of transcription, DNA-dependent|positive regulation by host of viral transcription|positive regulation of cell growth|positive regulation of transcription, DNA-dependent	nucleus	protein self-association|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr3:179051488A>G	BC020500	CCDS3227.1	3q27.1	2010-03-26			ENSG00000121864	ENSG00000121864		"""Zinc fingers, C2H2-type"""	30950	protein-coding gene	gene with protein product	"""zinc finger amplified in esophageal squamous cell carcinomas 1"""					14522885	Standard	NM_016331		Approved	ANC-2H01, ZASC1	uc003fjr.1	Q9UID6	OTTHUMG00000157439	ENST00000326361.3:c.736A>G	3.37:g.179051488A>G	ENSP00000325634:p.Met246Val					ZNF639_uc003fjr.1_Missense_Mutation_p.M246V	p.M246V	NM_016331	NP_057415	Q9UID6	ZN639_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0923)		6	1079	+	all_cancers(143;7.9e-17)|Ovarian(172;0.0172)|Breast(254;0.155)		246			C2H2-type 2.		A9X3Z9|D3DNR3	Missense_Mutation	SNP	ENST00000326361.3	37	c.736A>G	CCDS3227.1	.	.	.	.	.	.	.	.	.	.	A	4.172	0.030549	0.08101	.	.	ENSG00000121864	ENST00000496856;ENST00000326361;ENST00000466264;ENST00000484866	T;T;T;T	0.50548	0.74;0.74;0.74;0.74	5.78	0.66	0.17868	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);	0.411038	0.26899	N	0.021932	T	0.19967	0.0480	N	0.04090	-0.28	0.19300	N	0.999974	B	0.02656	0.0	B	0.01281	0.0	T	0.11792	-1.0573	10	0.36615	T	0.2	.	5.2531	0.15532	0.4963:0.1499:0.3538:0.0	.	246	Q9UID6	ZN639_HUMAN	V	246	ENSP00000417740:M246V;ENSP00000325634:M246V;ENSP00000419650:M246V;ENSP00000418766:M246V	ENSP00000325634:M246V	M	+	1	0	ZNF639	180534182	0.991000	0.36638	1.000000	0.80357	0.991000	0.79684	0.825000	0.27393	0.538000	0.28769	0.533000	0.62120	ATG		0.368	ZNF639-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348855.1	NM_016331		46	124	0	0	0	0	46	124				
MFN1	55669	broad.mit.edu	37	3	179082965	179082965	+	Silent	SNP	C	C	T			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr3:179082965C>T	ENST00000471841.1	+	7	831	c.705C>T	c.(703-705)ctC>ctT	p.L235L	MFN1_ENST00000280653.7_Silent_p.L235L|MFN1_ENST00000263969.5_Silent_p.L235L	NM_033540.2	NP_284941	Q8IWA4	MFN1_HUMAN	mitofusin 1	235	Dynamin-type G.				mitochondrial fusion (GO:0008053)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(3)|prostate(1)|urinary_tract(1)	31	all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923)			TTTTCATTCTCAATAATCGTT	0.338																																						uc003fjs.2		NA																	0				ovary(2)|large_intestine(1)	3						c.(703-705)CTC>CTT		mitofusin 1							56.0	60.0	59.0					3																	179082965		2203	4300	6503	SO:0001819	synonymous_variant	55669				mitochondrial fusion	integral to membrane|mitochondrial outer membrane	GTP binding|GTPase activity	g.chr3:179082965C>T	AF054986	CCDS3228.1	3q26.32	2006-12-13			ENSG00000171109	ENSG00000171109			18262	protein-coding gene	gene with protein product		608506				8358434, 11181170	Standard	NM_033540		Approved	FLJ20693	uc003fjs.3	Q8IWA4	OTTHUMG00000157385	ENST00000471841.1:c.705C>T	3.37:g.179082965C>T						MFN1_uc010hxb.2_RNA|MFN1_uc003fjt.2_Silent_p.L263L|MFN1_uc010hxc.2_Silent_p.L88L	p.L235L	NM_033540	NP_284941	Q8IWA4	MFN1_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923)		7	831	+	all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155)		235			Cytoplasmic (Potential).		B2RAR1|D3DNR6|O15323|O60639|Q9BZB5|Q9NWQ2	Silent	SNP	ENST00000471841.1	37	c.705C>T	CCDS3228.1																																																																																				0.338	MFN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348654.2	NM_017927		10	164	0	0	0	0	10	164				
MUC4	4585	broad.mit.edu	37	3	195505836	195505836	+	Missense_Mutation	SNP	G	G	C	rs369326402	byFrequency	TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr3:195505836G>C	ENST00000463781.3	-	2	13074	c.12615C>G	c.(12613-12615)caC>caG	p.H4205Q	MUC4_ENST00000475231.1_Missense_Mutation_p.H4205Q|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)	p.H4205Q(10)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GAGGGGTGGCGTGACCTGTGG	0.597																																						uc011bto.1		NA																	10	Substitution - Missense(10)		kidney(4)|prostate(3)|urinary_tract(2)|endometrium(1)		0						c.(12229-12231)CAC>CAG		mucin 4 isoform a							15.0	14.0	14.0					3																	195505836		687	1573	2260	SO:0001583	missense	4585				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	g.chr3:195505836G>C	AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.12615C>G	3.37:g.195505836G>C	ENSP00000417498:p.His4205Gln					MUC4_uc003fva.2_5'Flank|MUC4_uc003fvb.2_5'Flank|MUC4_uc003fvc.2_5'Flank|MUC4_uc003fvd.2_5'Flank|MUC4_uc003fve.2_5'Flank|MUC4_uc010hzr.2_5'Flank|MUC4_uc011btf.1_Intron|MUC4_uc011btg.1_Intron|MUC4_uc011bth.1_Intron|MUC4_uc011bti.1_Intron|MUC4_uc011btj.1_Intron|MUC4_uc011btk.1_Intron|MUC4_uc011btl.1_Intron|MUC4_uc011btm.1_Intron|MUC4_uc011btn.1_Intron|MUC4_uc003fvo.2_Intron|MUC4_uc003fvp.2_Intron|MUC4_uc010hzu.1_Intron	p.H4077Q	NM_018406	NP_060876	Q99102	MUC4_HUMAN	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)	3	12691	-	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	ENST00000463781.3	37	c.12231C>G	CCDS54700.1	.	.	.	.	.	.	.	.	.	.	g	0.099	-1.155501	0.01686	.	.	ENSG00000145113	ENST00000463781;ENST00000475231	T;T	0.30448	1.55;1.53	.	.	.	.	.	.	.	.	T	0.17619	0.0423	N	0.19112	0.55	0.21950	N	0.999454	P	0.35208	0.49	B	0.40038	0.317	T	0.24368	-1.0162	6	.	.	.	.	.	.	.	.	4077	E7ESK3	.	Q	4205	ENSP00000417498:H4205Q;ENSP00000420243:H4205Q	.	H	-	3	2	MUC4	196990615	.	.	0.016000	0.15963	0.046000	0.14306	.	.	-0.849000	0.04158	0.074000	0.15403	CAC		0.597	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406		4	13	0	0	0	0	4	13				
MUC4	4585	broad.mit.edu	37	3	195511959	195511959	+	Silent	SNP	G	G	A	rs369770584		TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr3:195511959G>A	ENST00000463781.3	-	2	6951	c.6492C>T	c.(6490-6492)acC>acT	p.T2164T	MUC4_ENST00000475231.1_Silent_p.T2164T|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		AGGAAGTGTCGGTGACAGGAA	0.577																																						uc011bto.1		NA																	0					0						c.(6490-6492)ACC>ACT		mucin 4 isoform a							15.0	15.0	15.0					3																	195511959		676	1556	2232	SO:0001819	synonymous_variant	4585				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	g.chr3:195511959G>A	AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.6492C>T	3.37:g.195511959G>A						MUC4_uc003fvo.2_Intron|MUC4_uc003fvp.2_Intron|MUC4_uc010hzu.1_Intron	p.T2164T	NM_018406	NP_060876	Q99102	MUC4_HUMAN	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)	2	6952	-	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	45					O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Silent	SNP	ENST00000463781.3	37	c.6492C>T	CCDS54700.1																																																																																				0.577	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406		3	13	0	0	0	0	3	13				
UBA6	55236	broad.mit.edu	37	4	68499067	68499067	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr4:68499067T>C	ENST00000322244.5	-	23	2197	c.2138A>G	c.(2137-2139)cAt>cGt	p.H713R		NM_018227.5	NP_060697.4	A0AVT1	UBA6_HUMAN	ubiquitin-like modifier activating enzyme 6	713					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						ACTTACCTTATGGTTAAAATA	0.303																																						uc003hdg.3		NA																	0					0						c.(2137-2139)CAT>CGT		ubiquitin-activating enzyme E1-like 2							86.0	95.0	92.0					4																	68499067		2202	4295	6497	SO:0001583	missense	55236				protein ubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm	ATP binding|FAT10 activating enzyme activity|ligase activity|protein binding	g.chr4:68499067T>C	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.2138A>G	4.37:g.68499067T>C	ENSP00000313454:p.His713Arg						p.H713R	NM_018227	NP_060697	A0AVT1	UBA6_HUMAN			23	2190	-			713					A6N8M7|B2RAV3|Q4W5K0|Q6UV21|Q86T78|Q86TC7|Q8N5T3|Q8N9E4|Q9H3T7|Q9NVC9	Missense_Mutation	SNP	ENST00000322244.5	37	c.2138A>G	CCDS3516.1	.	.	.	.	.	.	.	.	.	.	T	13.91	2.377909	0.42105	.	.	ENSG00000033178	ENST00000322244	T	0.64085	-0.08	4.71	4.71	0.59529	Molybdenum cofactor biosynthesis, MoeB (1);Ubiquitin-like 1 activating enzyme, catalytic cysteine domain (1);	0.179034	0.49305	D	0.000147	T	0.54398	0.1856	L	0.39633	1.23	0.80722	D	1	B	0.14012	0.009	B	0.14023	0.01	T	0.55095	-0.8194	10	0.59425	D	0.04	-18.9147	14.347	0.66672	0.0:0.0:0.0:1.0	.	713	A0AVT1	UBA6_HUMAN	R	713	ENSP00000313454:H713R	ENSP00000313454:H713R	H	-	2	0	UBA6	68181662	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	4.128000	0.57951	1.990000	0.58119	0.377000	0.23210	CAT		0.303	UBA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251429.2	NM_018227		21	58	0	0	0	0	21	58				
ODAM	54959	broad.mit.edu	37	4	71063726	71063726	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr4:71063726C>A	ENST00000396094.2	+	4	275	c.227C>A	c.(226-228)tCt>tAt	p.S76Y		NM_017855.3	NP_060325.3	A1E959	ODAM_HUMAN	odontogenic, ameloblast asssociated	76	Gln-rich.				biomineral tissue development (GO:0031214)|odontogenesis of dentin-containing tooth (GO:0042475)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|fibril (GO:0043205)|nucleus (GO:0005634)				NS(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(8)|ovary(3)|skin(2)	20						TCCCAGTTCTCTTTATCAGCT	0.478																																						uc003hfc.2		NA																	0				ovary(3)|large_intestine(1)	4						c.(226-228)TCT>TAT		odontogenic ameloblast-associated protein							188.0	183.0	185.0					4																	71063726		1862	4104	5966	SO:0001583	missense	54959				biomineral tissue development|odontogenesis of dentine-containing tooth	fibril		g.chr4:71063726C>A	AK000520	CCDS3536.2	4q13.3	2010-11-23			ENSG00000109205	ENSG00000109205			26043	protein-coding gene	gene with protein product		614843				14647039	Standard	NM_017855		Approved	APin, FLJ20513	uc003hfc.3	A1E959	OTTHUMG00000129406	ENST00000396094.2:c.227C>A	4.37:g.71063726C>A	ENSP00000379401:p.Ser76Tyr						p.S76Y	NM_017855	NP_060325	A1E959	ODAM_HUMAN			4	244	+			76			Gln-rich.		Q8WWE5|Q9NWZ9	Missense_Mutation	SNP	ENST00000396094.2	37	c.227C>A	CCDS3536.2	.	.	.	.	.	.	.	.	.	.	C	9.334	1.061197	0.19987	.	.	ENSG00000109205	ENST00000396094;ENST00000510709;ENST00000514097	T;T	0.50548	0.74;0.74	4.79	3.93	0.45458	.	.	.	.	.	T	0.39279	0.1072	L	0.39898	1.24	0.09310	N	1	B	0.27679	0.185	B	0.25884	0.064	T	0.35549	-0.9784	9	0.72032	D	0.01	-4.9159	10.0126	0.41995	0.2215:0.7785:0.0:0.0	.	76	A1E959	ODAM_HUMAN	Y	76;62;29	ENSP00000379401:S76Y;ENSP00000426106:S29Y	ENSP00000379401:S76Y	S	+	2	0	ODAM	71098315	0.127000	0.22367	0.022000	0.16811	0.006000	0.05464	1.931000	0.40134	1.191000	0.43056	-0.397000	0.06425	TCT		0.478	ODAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251562.1	NM_017855		52	141	1	0	2.49e-17	3.4e-17	52	141				
GRID2	2895	broad.mit.edu	37	4	94411922	94411922	+	Missense_Mutation	SNP	C	C	T	rs374167901		TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr4:94411922C>T	ENST00000282020.4	+	12	2249	c.1991C>T	c.(1990-1992)tCc>tTc	p.S664F	GRID2_ENST00000510992.1_Missense_Mutation_p.S569F	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	664					cellular protein localization (GO:0034613)|cerebellar granule cell differentiation (GO:0021707)|glutamate receptor signaling pathway (GO:0007215)|heterophilic cell-cell adhesion (GO:0007157)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of neuron apoptotic process (GO:0043523)|regulation of neuron projection development (GO:0010975)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|ionotropic glutamate receptor complex (GO:0008328)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|ionotropic glutamate receptor activity (GO:0004970)|PDZ domain binding (GO:0030165)|scaffold protein binding (GO:0097110)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)		ATTGAAAGTTCCATCCAGTAA	0.393																																						uc011cdt.1		NA																	0				ovary(3)|skin(2)|large_intestine(1)	6						c.(1990-1992)TCC>TTC		glutamate receptor, ionotropic, delta 2	L-Glutamic Acid(DB00142)						116.0	114.0	115.0					4																	94411922		2203	4300	6503	SO:0001583	missense	2895				glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity	g.chr4:94411922C>T	AF009014	CCDS3637.1, CCDS68758.1	4q22	2012-08-29			ENSG00000152208	ENSG00000152208		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4576	protein-coding gene	gene with protein product		602368				9465309	Standard	NM_001510		Approved	GluD2, GluR-delta-2	uc011cdt.2	O43424	OTTHUMG00000130975	ENST00000282020.4:c.1991C>T	4.37:g.94411922C>T	ENSP00000282020:p.Ser664Phe					GRID2_uc011cdu.1_Missense_Mutation_p.S569F	p.S664F	NM_001510	NP_001501	O43424	GRID2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	12	2249	+		Hepatocellular(203;0.114)|all_hematologic(202;0.177)	664			Extracellular (Potential).		E9PH24|Q4KKU8|Q4KKU9|Q4KKV0|Q59FZ1	Missense_Mutation	SNP	ENST00000282020.4	37	c.1991C>T	CCDS3637.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.511909	0.85389	.	.	ENSG00000152208	ENST00000282020;ENST00000510992	T;T	0.12569	2.67;2.67	5.37	5.37	0.77165	Extracellular solute-binding protein, family 3 (1);Ionotropic glutamate receptor (2);	0.000000	0.85682	D	0.000000	T	0.27454	0.0674	L	0.39898	1.24	0.80722	D	1	D;D	0.60160	0.962;0.987	P;P	0.58577	0.672;0.841	T	0.00804	-1.1559	10	0.87932	D	0	.	19.1096	0.93312	0.0:1.0:0.0:0.0	.	569;664	E9PH24;O43424	.;GRID2_HUMAN	F	664;569	ENSP00000282020:S664F;ENSP00000421257:S569F	ENSP00000282020:S664F	S	+	2	0	GRID2	94630945	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	7.456000	0.80751	2.509000	0.84616	0.591000	0.81541	TCC		0.393	GRID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253588.2			13	45	0	0	0	0	13	45				
USP53	54532	broad.mit.edu	37	4	120177469	120177469	+	Silent	SNP	A	A	G			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr4:120177469A>G	ENST00000274030.6	+	8	1620	c.441A>G	c.(439-441)aaA>aaG	p.K147K	USP53_ENST00000450251.1_Silent_p.K147K	NM_019050.2	NP_061923.2			ubiquitin specific peptidase 53											breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	27						GTACCTCTAAATCTTGTATCA	0.323																																						uc003ics.3		NA																	0				ovary(1)|breast(1)|kidney(1)|skin(1)	4						c.(439-441)AAA>AAG		ubiquitin specific protease 53							124.0	117.0	119.0					4																	120177469		1868	4118	5986	SO:0001819	synonymous_variant	54532				ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity	g.chr4:120177469A>G	BC017382	CCDS43265.1	4q26	2010-05-12	2005-08-08		ENSG00000145390	ENSG00000145390		"""Ubiquitin-specific peptidases"""	29255	protein-coding gene	gene with protein product			"""ubiquitin specific protease 53"""			10718198, 14715245	Standard	NM_019050		Approved	KIAA1350	uc003ics.4	Q70EK8	OTTHUMG00000161331	ENST00000274030.6:c.441A>G	4.37:g.120177469A>G						USP53_uc003icr.3_Silent_p.K147K|USP53_uc003icu.3_5'UTR	p.K147K	NM_019050	NP_061923	Q70EK8	UBP53_HUMAN			7	1507	+			147						Silent	SNP	ENST00000274030.6	37	c.441A>G	CCDS43265.1																																																																																				0.323	USP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364564.2	XM_052597		5	8	0	0	0	0	5	8				
ASB5	140458	broad.mit.edu	37	4	177143474	177143474	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr4:177143474G>C	ENST00000296525.3	-	3	487	c.374C>G	c.(373-375)gCa>gGa	p.A125G	ASB5_ENST00000511879.1_5'UTR|ASB5_ENST00000512254.1_Missense_Mutation_p.A72G	NM_080874.3	NP_543150.1	Q8WWX0	ASB5_HUMAN	ankyrin repeat and SOCS box containing 5	125					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)					endometrium(2)|kidney(1)|large_intestine(9)|lung(18)|prostate(2)|skin(2)	34		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.13e-20)|Epithelial(43;9.94e-18)|OV - Ovarian serous cystadenocarcinoma(60;2e-09)|GBM - Glioblastoma multiforme(59;0.000254)|STAD - Stomach adenocarcinoma(60;0.000653)|LUSC - Lung squamous cell carcinoma(193;0.0393)		ATTAGCTCCTGCTTCCAGCAG	0.418																																						uc003iuq.1		NA																	0				skin(2)	2						c.(373-375)GCA>GGA		ankyrin repeat and SOCS box-containing protein							96.0	91.0	93.0					4																	177143474		2203	4300	6503	SO:0001583	missense	140458				intracellular signal transduction			g.chr4:177143474G>C	AY057053	CCDS3827.1	4q34.1	2013-01-10	2011-01-25		ENSG00000164122	ENSG00000164122		"""Ankyrin repeat domain containing"""	17180	protein-coding gene	gene with protein product		615050	"""ankyrin repeat and SOCS box-containing 5"""				Standard	NM_080874		Approved		uc003iuq.2	Q8WWX0	OTTHUMG00000160793	ENST00000296525.3:c.374C>G	4.37:g.177143474G>C	ENSP00000296525:p.Ala125Gly					ASB5_uc003iup.1_Missense_Mutation_p.A72G	p.A125G	NM_080874	NP_543150	Q8WWX0	ASB5_HUMAN		all cancers(43;2.13e-20)|Epithelial(43;9.94e-18)|OV - Ovarian serous cystadenocarcinoma(60;2e-09)|GBM - Glioblastoma multiforme(59;0.000254)|STAD - Stomach adenocarcinoma(60;0.000653)|LUSC - Lung squamous cell carcinoma(193;0.0393)	3	390	-		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)	125			ANK 2.		Q8N7B5	Missense_Mutation	SNP	ENST00000296525.3	37	c.374C>G	CCDS3827.1	.	.	.	.	.	.	.	.	.	.	G	15.03	2.712253	0.48517	.	.	ENSG00000164122	ENST00000296525;ENST00000512254	T;T	0.66638	-0.22;-0.22	5.62	4.78	0.61160	Ankyrin repeat-containing domain (4);	0.269635	0.42294	D	0.000726	T	0.68915	0.3053	N	0.26162	0.8	0.58432	D	0.999995	D;D	0.67145	0.961;0.996	P;D	0.63381	0.572;0.914	T	0.71354	-0.4618	10	0.52906	T	0.07	-7.282	13.0304	0.58839	0.0745:0.0:0.9255:0.0	.	125;72	Q8WWX0;Q8N7B5	ASB5_HUMAN;.	G	125;72	ENSP00000296525:A125G;ENSP00000422877:A72G	ENSP00000296525:A125G	A	-	2	0	ASB5	177380468	1.000000	0.71417	0.998000	0.56505	0.785000	0.44390	4.868000	0.63021	1.520000	0.48965	0.585000	0.79938	GCA		0.418	ASB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362344.1			6	48	0	0	0	0	6	48				
FAT1	2195	broad.mit.edu	37	4	187557927	187557927	+	Nonsense_Mutation	SNP	G	G	A	rs369805914		TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr4:187557927G>A	ENST00000441802.2	-	5	3993	c.3784C>T	c.(3784-3786)Cga>Tga	p.R1262*		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	1262	Cadherin 11. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						TTTCTTTCTCGGTCTGGCTTT	0.478										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	uc003izf.2		NA																	0				ovary(10)|central_nervous_system(1)|pancreas(1)	12						c.(3784-3786)CGA>TGA		FAT tumor suppressor 1 precursor		G	stop/ARG	0,3676		0,0,1838	182.0	184.0	184.0		3784	-0.5	0.0	4		184	1,8189		0,1,4094	no	stop-gained	FAT1	NM_005245.3		0,1,5932	AA,AG,GG		0.0122,0.0,0.0084		1262/4589	187557927	1,11865	1838	4095	5933	SO:0001587	stop_gained	2195				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	g.chr4:187557927G>A	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.3784C>T	4.37:g.187557927G>A	ENSP00000406229:p.Arg1262*	HNSCC(5;0.00058)					p.R1262*	NM_005245	NP_005236	Q14517	FAT1_HUMAN			5	3972	-			1262			Extracellular (Potential).|Cadherin 11.			Nonsense_Mutation	SNP	ENST00000441802.2	37	c.3784C>T	CCDS47177.1	.	.	.	.	.	.	.	.	.	.	G	39	7.840707	0.98519	0.0	1.22E-4	ENSG00000083857	ENST00000441802;ENST00000260147	.	.	.	4.84	-0.513	0.11962	.	0.275058	0.32736	N	0.005718	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.0987	0.42491	0.0:0.2244:0.2334:0.5422	.	.	.	.	X	1262	.	ENSP00000260147:R1262X	R	-	1	2	FAT1	187794921	0.996000	0.38824	0.027000	0.17364	0.111000	0.19643	1.631000	0.37092	-0.351000	0.08249	-0.305000	0.09177	CGA		0.478	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		119	168	0	0	0	0	119	168				
MRPS30	10884	broad.mit.edu	37	5	44813292	44813292	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr5:44813292G>A	ENST00000507110.1	+	4	976	c.938G>A	c.(937-939)aGa>aAa	p.R313K		NM_016640.3	NP_057724.2	Q9NP92	RT30_HUMAN	mitochondrial ribosomal protein S30	313					apoptotic process (GO:0006915)|translation (GO:0006412)	mitochondrion (GO:0005739)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(11)|prostate(1)	20	Lung NSC(6;8.08e-07)					AGGCTTTTGAGACAAAACTGT	0.393																																						uc003joh.2		NA																	0					0						c.(937-939)AGA>AAA		mitochondrial ribosomal protein S30							96.0	95.0	95.0					5																	44813292		2203	4300	6503	SO:0001583	missense	10884				apoptosis|translation	mitochondrion|ribosome	structural constituent of ribosome	g.chr5:44813292G>A	AF146192	CCDS3951.1	5q11	2012-09-13		2001-11-09	ENSG00000112996	ENSG00000112996		"""Mitochondrial ribosomal proteins / small subunits"""	8769	protein-coding gene	gene with protein product		611991		PDCD9		10640817, 11279123	Standard	NM_016640		Approved	PAP	uc003joh.3	Q9NP92	OTTHUMG00000096967	ENST00000507110.1:c.938G>A	5.37:g.44813292G>A	ENSP00000424328:p.Arg313Lys						p.R313K	NM_016640	NP_057724	Q9NP92	RT30_HUMAN			4	976	+	Lung NSC(6;8.08e-07)		313					Q96I91|Q96Q19|Q9H0P8|Q9NSF9|Q9NZ76	Missense_Mutation	SNP	ENST00000507110.1	37	c.938G>A	CCDS3951.1	.	.	.	.	.	.	.	.	.	.	G	0.009	-1.800159	0.00611	.	.	ENSG00000112996	ENST00000507110	T	0.15952	2.38	5.78	-2.64	0.06114	.	0.606550	0.18568	N	0.137440	T	0.02610	0.0079	N	0.00621	-1.32	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.33163	-0.9879	10	0.02654	T	1	0.0259	2.6171	0.04907	0.4017:0.1977:0.3044:0.0962	.	313	Q9NP92	RT30_HUMAN	K	313	ENSP00000424328:R313K	ENSP00000424328:R313K	R	+	2	0	MRPS30	44849049	0.000000	0.05858	0.001000	0.08648	0.060000	0.15804	0.213000	0.17521	-0.600000	0.05790	-1.058000	0.02302	AGA		0.393	MRPS30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214033.2	NM_016640		4	42	0	0	0	0	4	42				
RPS23	6228	broad.mit.edu	37	5	81571952	81571953	+	Missense_Mutation	DNP	GC	GC	AT			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr5:81571952_81571953GC>AT	ENST00000296674.8	-	4	660_661	c.407_408GC>AT	c.(406-408)gGC>gAT	p.G136D	RPS23_ENST00000510019.1_Splice_Site_p.G78D|RPS23_ENST00000507980.1_3'UTR|RPS23_ENST00000510210.1_Intron|RPS23_ENST00000512493.1_Intron|ATG10_ENST00000514253.2_Intron|RPS23_ENST00000503605.1_5'Flank	NM_001025.4	NP_001016.1	P62266	RS23_HUMAN	ribosomal protein S23	136					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|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)|membrane (GO:0016020)|nucleolus (GO:0005730)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			prostate(1)	1		Lung NSC(167;0.0025)|all_lung(232;0.00278)|Ovarian(174;0.0336)		OV - Ovarian serous cystadenocarcinoma(54;1.94e-42)|Epithelial(54;8.38e-37)|all cancers(79;1.42e-31)		TTTCCTTCTTGCCTTTGTATAG	0.381																																						uc003khu.2		NA																	0					0						c.(406-408)GGC>GAT		ribosomal protein S23																																				SO:0001583	missense	6228				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit	protein binding|structural constituent of ribosome	g.chr5:81571952_81571953GC>AT	AB007158	CCDS47241.1	5q14.2	2013-05-09			ENSG00000186468	ENSG00000186468		"""S ribosomal proteins"""	10410	protein-coding gene	gene with protein product		603683				9582194	Standard	NM_001025		Approved	S23	uc003khu.3	P62266	OTTHUMG00000162557	ENST00000296674.8:c.407_408delinsAT	5.37:g.81571952_81571953delinsAT	ENSP00000296674:p.Gly136Asp						p.G136D	NM_001025	NP_001016	P62266	RS23_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;1.94e-42)|Epithelial(54;8.38e-37)|all cancers(79;1.42e-31)	4	500_501	-		Lung NSC(167;0.0025)|all_lung(232;0.00278)|Ovarian(174;0.0336)	136					P39028|Q6IB08	Missense_Mutation	DNP	ENST00000296674.8	37	c.407_408GC>AT	CCDS47241.1																																																																																				0.381	RPS23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369546.2	NM_001025		8	67	0	0	0	0	8	67				
PCDHA13	56136	broad.mit.edu	37	5	140263131	140263131	+	Silent	SNP	C	C	T			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr5:140263131C>T	ENST00000289272.2	+	1	1278	c.1278C>T	c.(1276-1278)acC>acT	p.T426T	PCDHA10_ENST00000506939.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA13_ENST00000409494.1_Silent_p.T426T|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1	Q9Y5I0	PCDAD_HUMAN	protocadherin alpha 13	426	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGTGGTGACCGCGCGGGACG	0.657																																					Melanoma(147;1739 1852 5500 27947 37288)	uc003lif.2		NA																	0				ovary(3)|skin(2)|central_nervous_system(1)	6						c.(1276-1278)ACC>ACT		protocadherin alpha 13 isoform 1 precursor							103.0	107.0	106.0					5																	140263131		2203	4300	6503	SO:0001819	synonymous_variant	56136				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140263131C>T	AF152478	CCDS4240.1	5q31	2010-11-26			ENSG00000239389	ENSG00000239389		"""Cadherins / Protocadherins : Clustered"""	8667	other	complex locus constituent	"""KIAA0345-like 1"", ""ortholog of mouse CNR5"""	606319		CNRS5		10380929, 10662547	Standard	NM_018904		Approved	CNR5, CRNR5, CNRN5, PCDH-ALPHA13		Q9Y5I0	OTTHUMG00000129614	ENST00000289272.2:c.1278C>T	5.37:g.140263131C>T						PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Silent_p.T426T|PCDHA13_uc003lid.2_Silent_p.T426T	p.T426T	NM_018904	NP_061727	Q9Y5I0	PCDAD_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1278	+			426			Cadherin 4.|Extracellular (Potential).		O75277	Silent	SNP	ENST00000289272.2	37	c.1278C>T	CCDS4240.1																																																																																				0.657	PCDHA13-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335000.1	NM_018904		34	157	0	0	0	0	34	157				
TCERG1	10915	broad.mit.edu	37	5	145836812	145836812	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr5:145836812G>A	ENST00000296702.5	+	3	390	c.352G>A	c.(352-354)Gga>Aga	p.G118R	TCERG1_ENST00000394421.2_Missense_Mutation_p.G118R	NM_006706.3	NP_006697.2	O14776	TCRG1_HUMAN	transcription elongation regulator 1	118	Pro-rich.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription corepressor activity (GO:0001106)|transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GTTTCCACCAGGAATGCCTCC	0.453																																						uc003lob.2		NA																	0				ovary(1)|skin(1)	2						c.(352-354)GGA>AGA		transcription elongation regulator 1 isoform 1							134.0	124.0	128.0					5																	145836812		2203	4300	6503	SO:0001583	missense	10915				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding|transcription coactivator activity	g.chr5:145836812G>A	AF017789	CCDS4282.1, CCDS43379.1	5q31	2010-01-25	2002-01-24	2002-01-25	ENSG00000113649	ENSG00000113649			15630	protein-coding gene	gene with protein product	"""transcription factor CA150"", ""co-activator of 150 kDa"", ""TATA box binding protein (TBP)-associated factor, RNA polymerase II, S, 150kD"", ""TATA box-binding protein-associated factor 2S"""	605409	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, S, 150kD"""	TAF2S		9315662, 11003711	Standard	XM_005268365		Approved	CA150, Urn1	uc003lob.3	O14776	OTTHUMG00000129683	ENST00000296702.5:c.352G>A	5.37:g.145836812G>A	ENSP00000296702:p.Gly118Arg					TCERG1_uc003loc.2_Missense_Mutation_p.G118R|TCERG1_uc011dbt.1_Missense_Mutation_p.G118R	p.G118R	NM_006706	NP_006697	O14776	TCRG1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		3	392	+		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	118			Pro-rich.		Q2NKN2|Q59EA1	Missense_Mutation	SNP	ENST00000296702.5	37	c.352G>A	CCDS4282.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.220440	0.79464	.	.	ENSG00000113649	ENST00000296702;ENST00000394421	T;T	0.27720	1.65;1.7	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	T	0.49813	0.1579	L	0.54323	1.7	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.998;0.996	T	0.31613	-0.9937	10	0.12103	T	0.63	-21.6712	18.9097	0.92477	0.0:0.0:1.0:0.0	.	118;118;118	B7Z921;O14776-2;O14776	.;.;TCRG1_HUMAN	R	118	ENSP00000296702:G118R;ENSP00000377943:G118R	ENSP00000296702:G118R	G	+	1	0	TCERG1	145817005	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.334000	0.96470	2.463000	0.83235	0.491000	0.48974	GGA		0.453	TCERG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251886.1	NM_001040006		18	81	0	0	0	0	18	81				
ADAM19	8728	broad.mit.edu	37	5	156934146	156934146	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr5:156934146C>T	ENST00000517905.1	-	10	952	c.908G>A	c.(907-909)gGc>gAc	p.G303D	ADAM19_ENST00000430702.2_Missense_Mutation_p.G36D|ADAM19_ENST00000394020.1_Missense_Mutation_p.G305D|ADAM19_ENST00000257527.4_Missense_Mutation_p.G303D			Q9H013	ADA19_HUMAN	ADAM metallopeptidase domain 19	303	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				heart development (GO:0007507)|membrane protein ectodomain proteolysis (GO:0006509)	integral component of membrane (GO:0016021)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GAAGGACATGCCCCTGCAGGA	0.622																																						uc003lwz.2		NA																	0				ovary(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1)	8						c.(907-909)GGC>GAC		ADAM metallopeptidase domain 19 preproprotein							72.0	67.0	69.0					5																	156934146		2203	4300	6503	SO:0001583	missense	8728				proteolysis	integral to membrane	metalloendopeptidase activity|SH3 domain binding|zinc ion binding	g.chr5:156934146C>T	AF311317	CCDS4338.1	5q33.3	2010-06-24	2010-06-24		ENSG00000135074	ENSG00000135074		"""ADAM metallopeptidase domain containing"""	197	protein-coding gene	gene with protein product	"""meltrin beta"""	603640	"""a disintegrin and metalloproteinase domain 19 (meltrin beta)"""			9806848	Standard	NM_033274		Approved	MLTNB	uc003lwz.4	Q9H013	OTTHUMG00000130242	ENST00000517905.1:c.908G>A	5.37:g.156934146C>T	ENSP00000428654:p.Gly303Asp					ADAM19_uc003lww.1_Missense_Mutation_p.G36D|ADAM19_uc011ddr.1_Missense_Mutation_p.G234D	p.G303D	NM_033274	NP_150377	Q9H013	ADA19_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		10	972	-	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	303			Peptidase M12B.|Extracellular (Potential).		Q9BZL5|Q9UHP2	Missense_Mutation	SNP	ENST00000517905.1	37	c.908G>A		.	.	.	.	.	.	.	.	.	.	C	35	5.514938	0.96402	.	.	ENSG00000135074	ENST00000430702;ENST00000257527;ENST00000394020;ENST00000517905	T;D;D;D	0.87179	2.91;-2.22;-2.22;-2.22	5.37	5.37	0.77165	.	0.000000	0.64402	D	0.000005	D	0.93933	0.8058	M	0.81802	2.56	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.995;0.999	D	0.94463	0.7678	10	0.87932	D	0	.	19.1033	0.93282	0.0:1.0:0.0:0.0	.	303;36	Q9H013-2;E9PD32	.;.	D	36;303;305;303	ENSP00000414088:G36D;ENSP00000257527:G303D;ENSP00000377588:G305D;ENSP00000428654:G303D	ENSP00000257527:G303D	G	-	2	0	ADAM19	156866724	1.000000	0.71417	0.965000	0.40720	0.994000	0.84299	7.733000	0.84916	2.514000	0.84764	0.585000	0.79938	GGC		0.622	ADAM19-003	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000373918.1	NM_033274		4	75	0	0	0	0	4	75				
CREBRF	153222	broad.mit.edu	37	5	172517748	172517748	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr5:172517748A>G	ENST00000296953.2	+	4	885	c.566A>G	c.(565-567)aAg>aGg	p.K189R	CREBRF_ENST00000522692.1_Missense_Mutation_p.K189R|CREBRF_ENST00000540014.1_Missense_Mutation_p.K189R|CREBRF_ENST00000520420.1_Missense_Mutation_p.K189R	NM_153607.2	NP_705835.2	Q8IUR6	CRERF_HUMAN	CREB3 regulatory factor	189					negative regulation of endoplasmic reticulum unfolded protein response (GO:1900102)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of intracellular transport (GO:0032388)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein transport (GO:0051222)|response to endoplasmic reticulum stress (GO:0034976)|response to unfolded protein (GO:0006986)|transcription, DNA-templated (GO:0006351)|transport (GO:0006810)	cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)										TGTTCTTCTAAGACTCTGCAG	0.438																																						uc003mch.2		NA																	0					0						c.(565-567)AAG>AGG		luman-recruiting factor							48.0	46.0	47.0					5																	172517748		2203	4300	6503	SO:0001583	missense	153222						protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr5:172517748A>G	AY139008	CCDS34293.1, CCDS54948.1	5q35.2	2012-03-06	2012-03-06	2012-03-06	ENSG00000164463	ENSG00000164463			24050	protein-coding gene	gene with protein product	"""luman/CREB3 recruitment factor"""		"""chromosome 5 open reading frame 41"""	C5orf41		18391022	Standard	NM_153607		Approved	LRF	uc003mch.3	Q8IUR6	OTTHUMG00000163322	ENST00000296953.2:c.566A>G	5.37:g.172517748A>G	ENSP00000296953:p.Lys189Arg					C5orf41_uc003mcg.2_Missense_Mutation_p.K189R|C5orf41_uc003mcf.2_Missense_Mutation_p.K189R|C5orf41_uc011dfd.1_Missense_Mutation_p.K189R	p.K189R	NM_153607	NP_705835	Q8IUR6	CE041_HUMAN	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		4	870	+	Renal(175;0.000159)|Lung NSC(126;0.00223)|all_lung(126;0.00391)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	189					B3DFH2|B3KW49|D3DQM2|F5GXN3|Q5HYG4|Q5HYK0|Q86YR3|Q8IZG1	Missense_Mutation	SNP	ENST00000296953.2	37	c.566A>G	CCDS34293.1	.	.	.	.	.	.	.	.	.	.	A	18.79	3.699314	0.68501	.	.	ENSG00000164463	ENST00000522692;ENST00000296953;ENST00000540014;ENST00000520420;ENST00000538538;ENST00000393776	T;T;T;T	0.70631	-0.5;-0.5;-0.5;-0.5	5.83	5.83	0.93111	.	0.162448	0.56097	D	0.000033	T	0.54919	0.1888	N	0.19112	0.55	0.49798	D	0.999823	B;P	0.40107	0.041;0.703	B;B	0.35470	0.019;0.203	T	0.55566	-0.8121	10	0.22109	T	0.4	.	16.1957	0.82024	1.0:0.0:0.0:0.0	.	189;189	Q8IUR6;Q8IUR6-2	CE041_HUMAN;.	R	189	ENSP00000431107:K189R;ENSP00000296953:K189R;ENSP00000440075:K189R;ENSP00000428290:K189R	ENSP00000296953:K189R	K	+	2	0	C5orf41	172450354	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	6.414000	0.73318	2.226000	0.72624	0.533000	0.62120	AAG		0.438	CREBRF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372667.1	NM_153607		8	26	0	0	0	0	8	26				
MAPK9	5601	broad.mit.edu	37	5	179669687	179669687	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr5:179669687G>T	ENST00000452135.2	-	8	1055	c.757C>A	c.(757-759)Cag>Aag	p.Q253K	MAPK9_ENST00000524170.1_5'Flank|MAPK9_ENST00000347470.4_Intron|MAPK9_ENST00000343111.6_Missense_Mutation_p.Q253K|MAPK9_ENST00000455781.1_Missense_Mutation_p.Q253K|MAPK9_ENST00000393360.3_Missense_Mutation_p.Q253K|MAPK9_ENST00000397072.3_3'UTR			P45984	MK09_HUMAN	mitogen-activated protein kinase 9	253	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular response to growth factor stimulus (GO:0071363)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to UV (GO:0034644)|central nervous system development (GO:0007417)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|neuron projection development (GO:0031175)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell morphogenesis involved in differentiation (GO:0010770)|positive regulation of chemokine production (GO:0032722)|positive regulation of gene expression (GO:0010628)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of prostaglandin biosynthetic process (GO:0031394)|positive regulation of prostaglandin secretion (GO:0032308)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription, DNA-templated (GO:0045893)|protein targeting to mitochondrion (GO:0006626)|regulation of JNK cascade (GO:0046328)|regulation of protein ubiquitination (GO:0031396)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|release of cytochrome c from mitochondria (GO:0001836)|response to amine (GO:0014075)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|response to mechanical stimulus (GO:0009612)|response to stress (GO:0006950)|response to toxic substance (GO:0009636)|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)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|JUN kinase activity (GO:0004705)|transcription factor binding (GO:0008134)			central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(89;6.54e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	all_cancers(40;0.0236)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ACAGTTGGCTGAAGTTTCTTC	0.388																																						uc003mls.3		NA																	0				central_nervous_system(2)|upper_aerodigestive_tract(1)|large_intestine(1)	4						c.(757-759)CAG>AAG		mitogen-activated protein kinase 9 isoform JNK2							140.0	131.0	134.0					5																	179669687		2203	4300	6503	SO:0001583	missense	5601				innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of gene expression|positive regulation of macrophage derived foam cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|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|nucleoplasm	ATP binding|JUN kinase activity|protein binding|protein binding	g.chr5:179669687G>T	U09759	CCDS4453.1, CCDS4454.1, CCDS43409.1, CCDS43410.1, CCDS47356.1	5q35	2011-06-09			ENSG00000050748	ENSG00000050748	2.7.11.1	"""Mitogen-activated protein kinase cascade / Kinases"""	6886	protein-coding gene	gene with protein product	"""Jun kinase"""	602896		PRKM9		8001819	Standard	NM_002752		Approved	JNK2, p54a, SAPK	uc003mls.4	P45984	OTTHUMG00000130934	ENST00000452135.2:c.757C>A	5.37:g.179669687G>T	ENSP00000394560:p.Gln253Lys					MAPK9_uc003mlt.3_Missense_Mutation_p.Q253K|MAPK9_uc010jlc.2_Missense_Mutation_p.Q253K|MAPK9_uc003mlv.3_Missense_Mutation_p.Q253K	p.Q253K	NM_002752	NP_002743	P45984	MK09_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		8	1028	-	all_cancers(89;6.54e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	all_cancers(40;0.0236)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)	253			Protein kinase.		A8K0S3|B5BU66|B5M0B4|D3DWQ8|D3DWQ9|Q15708|Q15710|Q15711|Q8N5C5	Missense_Mutation	SNP	ENST00000452135.2	37	c.757C>A	CCDS4453.1	.	.	.	.	.	.	.	.	.	.	G	12.02	1.813819	0.32053	.	.	ENSG00000050748	ENST00000452135;ENST00000393360;ENST00000455781;ENST00000343111	T;T;T;T	0.64085	-0.06;-0.06;-0.08;-0.08	5.5	5.5	0.81552	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.122329	0.56097	D	0.000025	T	0.50735	0.1633	N	0.12920	0.275	0.80722	D	1	B;B;B;B	0.25105	0.118;0.056;0.032;0.014	B;B;B;B	0.28784	0.094;0.043;0.063;0.011	T	0.48410	-0.9038	10	0.48119	T	0.1	-7.2546	19.3976	0.94612	0.0:0.0:1.0:0.0	.	253;253;253;253	P45984-4;P45984-3;P45984-2;P45984	.;.;.;MK09_HUMAN	K	253	ENSP00000394560:Q253K;ENSP00000377028:Q253K;ENSP00000389338:Q253K;ENSP00000345524:Q253K	ENSP00000345524:Q253K	Q	-	1	0	MAPK9	179602293	1.000000	0.71417	1.000000	0.80357	0.061000	0.15899	6.884000	0.75600	2.575000	0.86900	0.650000	0.86243	CAG		0.388	MAPK9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253530.3			5	46	1	0	1.24e-05	1.57e-05	5	46				
DSP	1832	broad.mit.edu	37	6	7585963	7585963	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr6:7585963C>T	ENST00000379802.3	+	24	8809	c.8468C>T	c.(8467-8469)cCg>cTg	p.P2823L	DSP_ENST00000418664.2_Missense_Mutation_p.P2224L	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	2823	Globular 2.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|desmosome organization (GO:0002934)|epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein localization to adherens junction (GO:0071896)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular compact myocardium morphogenesis (GO:0003223)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cornified envelope (GO:0001533)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|protein kinase C binding (GO:0005080)|scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		TCTTCGGCTCCGGGGtcccgc	0.632																																						uc003mxp.1		NA																	0				central_nervous_system(6)|ovary(2)|skin(1)	9						c.(8467-8469)CCG>CTG		desmoplakin isoform I							66.0	78.0	74.0					6																	7585963		2203	4300	6503	SO:0001583	missense	1832				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton	g.chr6:7585963C>T	J05211	CCDS4501.1, CCDS47368.1	6p24.3	2014-09-17	2003-05-20		ENSG00000096696	ENSG00000096696			3052	protein-coding gene	gene with protein product		125647	"""desmoplakin (DPI, DPII)"""			1889810	Standard	NM_004415		Approved	KPPS2, PPKS2, DPI, DPII	uc003mxp.1	P15924	OTTHUMG00000014212	ENST00000379802.3:c.8468C>T	6.37:g.7585963C>T	ENSP00000369129:p.Pro2823Leu					DSP_uc003mxq.1_Missense_Mutation_p.P2224L	p.P2823L	NM_004415	NP_004406	P15924	DESP_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.000508)	24	8747	+	Ovarian(93;0.0584)	all_hematologic(90;0.236)	2823			Globular 2.		B2RTT2|D7RX09|O75993|Q14189|Q9UHN4	Missense_Mutation	SNP	ENST00000379802.3	37	c.8468C>T	CCDS4501.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.957142	0.73902	.	.	ENSG00000096696	ENST00000379802;ENST00000418664	T;T	0.74737	-0.61;-0.87	4.9	4.9	0.64082	.	0.000000	0.56097	D	0.000022	T	0.80433	0.4622	L	0.50333	1.59	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.997	T	0.80808	-0.1217	10	0.51188	T	0.08	.	18.4397	0.90662	0.0:1.0:0.0:0.0	.	2271;2823	Q4LE79;P15924	.;DESP_HUMAN	L	2823;2224	ENSP00000369129:P2823L;ENSP00000396591:P2224L	ENSP00000369129:P2823L	P	+	2	0	DSP	7530962	1.000000	0.71417	0.530000	0.27963	0.189000	0.23516	5.967000	0.70403	2.433000	0.82419	0.655000	0.94253	CCG		0.632	DSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039786.2	NM_004415		5	120	0	0	0	0	5	120				
EEF1E1	9521	broad.mit.edu	37	6	8102741	8102742	+	Missense_Mutation	DNP	GC	GC	AA	rs575826954		TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr6:8102741_8102742GC>AA	ENST00000379715.5	-	1	69_70	c.13_14GC>TT	c.(13-15)GCa>TTa	p.A5L	EEF1E1-BLOC1S5_ENST00000397456.2_Missense_Mutation_p.A5L|EEF1E1_ENST00000507463.1_Missense_Mutation_p.A5L|EEF1E1_ENST00000429723.2_Missense_Mutation_p.A5L	NM_004280.4	NP_004271.1	O43324	MCA3_HUMAN	eukaryotic translation elongation factor 1 epsilon 1	5	N-terminal.				gene expression (GO:0010467)|negative regulation of cell proliferation (GO:0008285)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)				endometrium(1)|prostate(1)	2	Ovarian(93;0.0398)					CGACAACTCTGCGGCCGCCGCC	0.604																																						uc003mxz.2		NA																	0					0						c.(13-15)GCA>TTA		eukaryotic translation elongation factor 1																																				SO:0001583	missense	9521				negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of DNA damage response, signal transduction by p53 class mediator|tRNA aminoacylation for protein translation	cytosol|nucleus		g.chr6:8102741_8102742GC>AA	AF054186	CCDS4507.1, CCDS47370.1	6p24.3	2009-05-20			ENSG00000124802	ENSG00000124802			3212	protein-coding gene	gene with protein product	"""aminoacyl tRNA synthetase complex-interacting multifunctional protein 3"""	609206		P18		9653160	Standard	NM_004280		Approved	AIMP3	uc003mxz.3	O43324	OTTHUMG00000014221	ENST00000379715.5:c.13_14delinsAA	6.37:g.8102741_8102742delinsAA	ENSP00000369038:p.Ala5Leu					EEF1E1_uc011dic.1_Missense_Mutation_p.A5L	p.A5L	NM_004280	NP_004271	O43324	MCA3_HUMAN			1	87_88	-	Ovarian(93;0.0398)		5					C9JLK5|Q5THS2	Missense_Mutation	DNP	ENST00000379715.5	37	c.13_14GC>TT	CCDS4507.1																																																																																				0.604	EEF1E1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039799.2	NM_004280		6	47	0	0	0	0	6	47				
HSP90AB1	3326	broad.mit.edu	37	6	44217786	44217786	+	Silent	SNP	G	G	A			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr6:44217786G>A	ENST00000371554.1	+	5	757	c.543G>A	c.(541-543)gtG>gtA	p.V181V	HSP90AB1_ENST00000371646.5_Silent_p.V181V|HSP90AB1_ENST00000353801.3_Silent_p.V181V			P08238	HS90B_HUMAN	heat shock protein 90kDa alpha (cytosolic), class B member 1	181					axon guidance (GO:0007411)|cellular response to interleukin-4 (GO:0071353)|cellular response to organic cyclic compound (GO:0071407)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|placenta development (GO:0001890)|positive regulation of cell size (GO:0045793)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of protein binding (GO:0032092)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|protein folding (GO:0006457)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to salt stress (GO:0009651)|response to unfolded protein (GO:0006986)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|inclusion body (GO:0016234)|membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|CTP binding (GO:0002135)|dATP binding (GO:0032564)|double-stranded RNA binding (GO:0003725)|GTP binding (GO:0005525)|MHC class II protein complex binding (GO:0023026)|nitric-oxide synthase regulator activity (GO:0030235)|poly(A) RNA binding (GO:0044822)|TPR domain binding (GO:0030911)|UTP binding (GO:0002134)			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(12)|prostate(2)|skin(2)|urinary_tract(2)	33	all_cancers(18;1.7e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			GTACCAAAGTGATCCTCCATC	0.438																																						uc003oxa.1		NA																	0				lung(3)|breast(1)	4						c.(541-543)GTG>GTA		heat shock 90kDa protein 1, beta							91.0	91.0	91.0					6																	44217786		2203	4300	6503	SO:0001819	synonymous_variant	3326				axon guidance|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of nitric oxide biosynthetic process|protein folding|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to unfolded protein	cytosol|melanosome	ATP binding|nitric-oxide synthase regulator activity|TPR domain binding|unfolded protein binding	g.chr6:44217786G>A	AF275719	CCDS4909.1	6p12	2011-09-02	2006-02-24	2006-02-24	ENSG00000096384	ENSG00000096384		"""Heat shock proteins / HSPC"""	5258	protein-coding gene	gene with protein product		140572	"""heat shock 90kD protein 1, beta"", ""heat shock 90kDa protein 1, beta"""	HSPC2, HSPCB		2768249, 16269234	Standard	NM_001271969		Approved		uc031sor.1	P08238	OTTHUMG00000014761	ENST00000371554.1:c.543G>A	6.37:g.44217786G>A						HSP90AB1_uc011dvr.1_Silent_p.V171V|HSP90AB1_uc003oxb.1_Silent_p.V181V|HSP90AB1_uc011dvs.1_Missense_Mutation_p.M1I|HSP90AB1_uc003oxc.1_5'UTR	p.V181V	NM_007355	NP_031381	P08238	HS90B_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		5	627	+	all_cancers(18;1.7e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		181					B2R5P0|Q5T9W7|Q9NQW0|Q9NTK6	Silent	SNP	ENST00000371554.1	37	c.543G>A	CCDS4909.1																																																																																				0.438	HSP90AB1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040730.1	NM_007355		23	78	0	0	0	0	23	78				
CD2AP	23607	broad.mit.edu	37	6	47563619	47563619	+	Silent	SNP	G	G	A			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr6:47563619G>A	ENST00000359314.5	+	12	1587	c.1131G>A	c.(1129-1131)caG>caA	p.Q377Q		NM_012120.2	NP_036252.1	Q9Y5K6	CD2AP_HUMAN	CD2-associated protein	377	Pro-rich.				mitotic nuclear division (GO:0007067)|negative regulation of transforming growth factor beta1 production (GO:0032911)|positive regulation of protein localization to nucleus (GO:1900182)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein complex assembly (GO:0006461)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of receptor-mediated endocytosis (GO:0048259)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|substrate-dependent cell migration, cell extension (GO:0006930)|vesicle organization (GO:0016050)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	SH3 domain binding (GO:0017124)|structural constituent of cytoskeleton (GO:0005200)			kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	20			Lung(136;0.105)|LUSC - Lung squamous cell carcinoma(51;0.138)			CACTGGAACAGAAACCTTCTA	0.353																																						uc003oyw.2		NA																	0				ovary(1)|skin(1)	2						c.(1129-1131)CAG>CAA		CD2-associated protein							170.0	191.0	184.0					6																	47563619		2203	4300	6503	SO:0001819	synonymous_variant	23607				cell division|mitosis|protein complex assembly|signal transduction|substrate-dependent cell migration, cell extension	cytoplasm|filamentous actin|nucleolus|plasma membrane|ruffle	SH3 domain binding|structural constituent of cytoskeleton	g.chr6:47563619G>A	AF146277	CCDS34472.1	6p12	2008-02-05			ENSG00000198087	ENSG00000198087			14258	protein-coding gene	gene with protein product		604241				10339567	Standard	NM_012120		Approved	CMS	uc003oyw.3	Q9Y5K6	OTTHUMG00000014799	ENST00000359314.5:c.1131G>A	6.37:g.47563619G>A							p.Q377Q	NM_012120	NP_036252	Q9Y5K6	CD2AP_HUMAN	Lung(136;0.105)|LUSC - Lung squamous cell carcinoma(51;0.138)		12	1587	+			377			Pro-rich.		A6NL34|Q5VYA3|Q9UG97	Silent	SNP	ENST00000359314.5	37	c.1131G>A	CCDS34472.1																																																																																				0.353	CD2AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040817.2			25	190	0	0	0	0	25	190				
TFAP2B	7021	broad.mit.edu	37	6	50810853	50810853	+	Silent	SNP	G	G	A	rs140849621		TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr6:50810853G>A	ENST00000393655.3	+	7	1300	c.1131G>A	c.(1129-1131)ccG>ccA	p.P377P	TFAP2B_ENST00000263046.4_Silent_p.P386P	NM_003221.3	NP_003212.2	Q92481	AP2B_HUMAN	transcription factor AP-2 beta (activating enhancer binding protein 2 beta)	377				QLCKEFTDLLAQDRTPIGNSRPSPILEPGIQSCLTHFSLIT HGFGAPAICAALTALQNYLTEALKGMDKMFLNNTTTNRHTS GEGPGSKTGDKEEKHRK -> GNFVKNLRIYWRRTGHR (in Ref. 1; CAA71047). {ECO:0000305}.	aorta morphogenesis (GO:0035909)|calcium ion homeostasis (GO:0055074)|cellular ammonia homeostasis (GO:0097275)|cellular creatinine homeostasis (GO:0097276)|cellular urea homeostasis (GO:0097277)|collecting duct development (GO:0072044)|distal tubule development (GO:0072017)|ductus arteriosus closure (GO:0097070)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|hindlimb morphogenesis (GO:0035137)|kidney development (GO:0001822)|magnesium ion homeostasis (GO:0010960)|metanephric nephron development (GO:0072210)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|phosphate ion homeostasis (GO:0055062)|positive regulation of cell proliferation (GO:0008284)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of urine volume (GO:0035810)|potassium ion homeostasis (GO:0055075)|regulation of BMP signaling pathway (GO:0030510)|regulation of cell differentiation (GO:0045595)|regulation of insulin secretion (GO:0050796)|regulation of transcription, DNA-templated (GO:0006355)|renal water homeostasis (GO:0003091)|response to drug (GO:0042493)|response to lithium ion (GO:0010226)|retina layer formation (GO:0010842)|skin development (GO:0043588)|sodium ion homeostasis (GO:0055078)|sympathetic nervous system development (GO:0048485)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|DNA binding (GO:0003677)|enhancer sequence-specific DNA binding (GO:0001158)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|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 core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)	40	Lung NSC(77;0.156)					ACCGGACACCGATAGGGAACA	0.592													G|||	1	0.000199681	0.0008	0.0	5008	,	,		13668	0.0		0.0	False		,,,				2504	0.0				Pancreas(116;1373 2332 5475 10752)	uc003pag.2		NA																	0					0						c.(1129-1131)CCG>CCA		transcription factor AP-2 beta		G		1,4405	4.2+/-10.8	0,1,2202	77.0	84.0	82.0		1131	-9.6	0.1	6	dbSNP_134	82	0,8600		0,0,4300	no	coding-synonymous	TFAP2B	NM_003221.3		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		377/461	50810853	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	7021				nervous system development|positive regulation of transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr6:50810853G>A	X95694	CCDS4934.2	6p12	2008-02-05	2001-11-28		ENSG00000008196	ENSG00000008196			11743	protein-coding gene	gene with protein product		601601	"""transcription factor AP-2 beta (activating enhancer-binding protein 2 beta)"""			7555706, 8661133	Standard	NM_003221		Approved	AP2-B	uc003pag.3	Q92481	OTTHUMG00000014836	ENST00000393655.3:c.1131G>A	6.37:g.50810853G>A							p.P377P	NM_003221	NP_003212	Q92481	AP2B_HUMAN			7	1297	+	Lung NSC(77;0.156)		377	QLCKEFTDLLAQDRTPIGNSRPSPILEPGIQSCLTHFSLIT HGFGAPAICAALTALQNYLTEALKGMDKMFLNNTTTNRHTS GEGPGSKTGDKEEKHRK -> GNFVKNLRIYWRRTGHR (in Ref. 1; CAA71047).				Q5JYX6|Q9NQ63|Q9NU99|Q9UJI7|Q9Y214|Q9Y3K3	Silent	SNP	ENST00000393655.3	37	c.1131G>A	CCDS4934.2																																																																																				0.592	TFAP2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040886.3	NM_003221		60	142	0	0	0	0	60	142				
TBL2	26608	broad.mit.edu	37	7	72987687	72987687	+	Silent	SNP	G	G	A			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr7:72987687G>A	ENST00000305632.5	-	4	802	c.561C>T	c.(559-561)caC>caT	p.H187H	TBL2_ENST00000432538.1_Silent_p.H151H|TBL2_ENST00000452475.1_Silent_p.H187H|TBL2_ENST00000459913.1_5'UTR	NM_012453.2	NP_036585.1	Q9Y4P3	TBL2_HUMAN	transducin (beta)-like 2	187							poly(A) RNA binding (GO:0044822)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	19		Lung NSC(55;0.0659)|all_lung(88;0.152)				CAGGCGCCTTGTGCTTTTTAG	0.557																																						uc003tyh.2		NA																	0					0						c.(559-561)CAC>CAT		transducin (beta)-like 2							158.0	136.0	144.0					7																	72987687		2203	4300	6503	SO:0001819	synonymous_variant	26608							g.chr7:72987687G>A	AF056183	CCDS5551.1	7q11.23	2013-01-10			ENSG00000106638	ENSG00000106638		"""WD repeat domain containing"""	11586	protein-coding gene	gene with protein product	"""Williams-Beuren syndrome chromosome region 13"""	605842				9860302, 10575226	Standard	XM_006715923		Approved	WS-betaTRP, WBSCR13, DKFZP43N024	uc003tyh.3	Q9Y4P3	OTTHUMG00000023427	ENST00000305632.5:c.561C>T	7.37:g.72987687G>A						TBL2_uc011kex.1_Silent_p.H151H|TBL2_uc010lbg.2_Silent_p.H92H|TBL2_uc003tyi.2_Silent_p.H22H|TBL2_uc011key.1_Silent_p.H58H|TBL2_uc010lbh.2_Silent_p.H92H	p.H187H	NM_012453	NP_036585	Q9Y4P3	TBL2_HUMAN			4	695	-		Lung NSC(55;0.0659)|all_lung(88;0.152)	187			WD 3.		Q9UQE2	Silent	SNP	ENST00000305632.5	37	c.561C>T	CCDS5551.1																																																																																				0.557	TBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252233.3	NM_012453		28	134	0	0	0	0	28	134				
STEAP4	79689	broad.mit.edu	37	7	87913481	87913481	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr7:87913481C>T	ENST00000380079.4	-	2	205	c.104G>A	c.(103-105)gGa>gAa	p.G35E	AC003991.3_ENST00000595121.1_RNA|STEAP4_ENST00000301959.5_Missense_Mutation_p.G35E|AC003991.3_ENST00000434733.1_RNA|STEAP4_ENST00000414498.1_Missense_Mutation_p.G35E|AC003991.3_ENST00000447758.1_RNA|AC003991.3_ENST00000600908.1_RNA	NM_001205315.1|NM_024636.3	NP_001192244.1|NP_078912.2	Q687X5	STEA4_HUMAN	STEAP family member 4	35					copper ion import (GO:0015677)|fat cell differentiation (GO:0045444)|ferric iron import into cell (GO:0097461)|iron ion homeostasis (GO:0055072)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cupric reductase activity (GO:0008823)|ferric-chelate reductase (NADPH) activity (GO:0052851)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(3)	15	Esophageal squamous(14;0.00802)					CATTTTCAATCCCAGTGATCT	0.413																																						uc003ujs.2		NA																	0					0						c.(103-105)GGA>GAA		tumor necrosis factor, alpha-induced protein 9							80.0	77.0	77.0					7																	87913481		1829	4080	5909	SO:0001583	missense	79689				fat cell differentiation|ion transport|iron ion homeostasis	Golgi membrane|integral to membrane|plasma membrane	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity	g.chr7:87913481C>T	AK026806	CCDS43611.1, CCDS56494.1	7q21.13	2014-01-28	2005-06-15	2005-06-15	ENSG00000127954	ENSG00000127954			21923	protein-coding gene	gene with protein product		611098	"""tumor necrosis factor, alpha-induced protein 9"""	TNFAIP9		11443137, 15897894	Standard	NM_024636		Approved	FLJ23153, TIARP, STAMP2	uc003ujs.3	Q687X5	OTTHUMG00000153853	ENST00000380079.4:c.104G>A	7.37:g.87913481C>T	ENSP00000369419:p.Gly35Glu					STEAP4_uc010lek.2_Missense_Mutation_p.G35E|STEAP4_uc003ujt.2_Missense_Mutation_p.G35E	p.G35E	NM_024636	NP_078912	Q687X5	STEA4_HUMAN			2	209	-	Esophageal squamous(14;0.00802)		35					Q658Q9|Q687X4|Q8WWB0|Q9H5R1	Missense_Mutation	SNP	ENST00000380079.4	37	c.104G>A	CCDS43611.1	.	.	.	.	.	.	.	.	.	.	C	16.89	3.247582	0.59103	.	.	ENSG00000127954	ENST00000380079;ENST00000301959;ENST00000414498	T;T;T	0.18810	2.19;2.19;2.19	5.92	5.03	0.67393	NAD(P)-binding domain (1);	0.045701	0.85682	D	0.000000	T	0.57272	0.2042	M	0.93594	3.435	0.48762	D	0.999707	D;D;D	0.71674	0.973;0.998;0.998	P;D;D	0.79108	0.816;0.992;0.987	T	0.70321	-0.4904	10	0.66056	D	0.02	-9.1923	15.4142	0.74952	0.0:0.7367:0.2633:0.0	.	35;35;35	Q687X5-2;C9JS50;Q687X5	.;.;STEA4_HUMAN	E	35	ENSP00000369419:G35E;ENSP00000305545:G35E;ENSP00000394399:G35E	ENSP00000305545:G35E	G	-	2	0	STEAP4	87751417	0.982000	0.34865	0.644000	0.29465	0.659000	0.38960	2.489000	0.45285	1.487000	0.48415	0.655000	0.94253	GGA		0.413	STEAP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332712.4	NM_024636		10	100	0	0	0	0	10	100				
SRRT	51593	broad.mit.edu	37	7	100484783	100484783	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr7:100484783G>A	ENST00000347433.4	+	15	2095	c.1937G>A	c.(1936-1938)cGg>cAg	p.R646Q	SRRT_ENST00000457580.2_Missense_Mutation_p.R646Q|SRRT_ENST00000432932.1_Missense_Mutation_p.R645Q|SRRT_ENST00000388793.4_Missense_Mutation_p.R645Q			Q9BXP5	SRRT_HUMAN	serrate, RNA effector molecule	646					cell proliferation (GO:0008283)|neuronal stem cell maintenance (GO:0097150)|primary miRNA processing (GO:0031053)|regulation of transcription, DNA-templated (GO:0006355)|response to arsenic-containing substance (GO:0046685)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						ATCCACGTTCGGGGGCCCATG	0.602																																						uc003uwy.2		NA																	0				ovary(2)	2						c.(1936-1938)CGG>CAG		arsenate resistance protein 2 isoform a							115.0	109.0	111.0					7																	100484783		2203	4300	6503	SO:0001583	missense	51593				cell proliferation|primary miRNA processing|response to arsenic-containing substance	cytoplasm|nucleoplasm	protein binding	g.chr7:100484783G>A		CCDS34709.1, CCDS47665.1, CCDS47666.1, CCDS47667.1	7q21	2014-04-14	2014-04-14		ENSG00000087087	ENSG00000087087			24101	protein-coding gene	gene with protein product	"""arsenite resistance protein"""	614469	"""serrate RNA effector molecule homolog (Arabidopsis)"""			11239002, 11230166	Standard	NM_015908		Approved	Asr2, serrate, ARS2	uc003uwy.2	Q9BXP5	OTTHUMG00000157031	ENST00000347433.4:c.1937G>A	7.37:g.100484783G>A	ENSP00000314491:p.Arg646Gln					SRRT_uc010lhl.1_Missense_Mutation_p.R645Q|SRRT_uc003uxa.2_Missense_Mutation_p.R645Q|SRRT_uc003uwz.2_Missense_Mutation_p.R646Q	p.R646Q	NM_015908	NP_056992	Q9BXP5	SRRT_HUMAN			16	2205	+			646					A4D2E5|A4D2E6|A6NK22|B4DJL4|B4DZA6|O95808|Q32MI4|Q6NT74|Q8TDQ5|Q9BWP6|Q9BXP4|Q9Y4S4	Missense_Mutation	SNP	ENST00000347433.4	37	c.1937G>A	CCDS34709.1	.	.	.	.	.	.	.	.	.	.	G	35	5.558128	0.96514	.	.	ENSG00000087087	ENST00000457580;ENST00000388793;ENST00000342198;ENST00000432932;ENST00000347433;ENST00000448764	.	.	.	5.21	5.21	0.72293	Arsenite-resistance protein 2 (1);	0.000000	0.85682	D	0.000000	T	0.80686	0.4670	M	0.82193	2.58	0.80722	D	1	D;D;D;D	0.71674	0.998;0.998;0.998;0.998	D;D;D;D	0.79108	0.979;0.986;0.986;0.992	D	0.83837	0.0255	9	0.87932	D	0	.	16.2302	0.82332	0.0:0.0:1.0:0.0	.	645;645;646;646	Q9BXP5-3;Q9BXP5-4;Q9BXP5-2;Q9BXP5	.;.;.;SRRT_HUMAN	Q	646;645;11;645;646;276	.	ENSP00000344670:R11Q	R	+	2	0	SRRT	100322719	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.234000	0.78134	2.414000	0.81942	0.448000	0.29417	CGG		0.602	SRRT-004	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347168.1	NM_015908		26	184	0	0	0	0	26	184				
GPR37	2861	broad.mit.edu	37	7	124404598	124404598	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr7:124404598A>T	ENST00000303921.2	-	1	1083	c.433T>A	c.(433-435)Ttc>Atc	p.F145I		NM_005302.3	NP_005293.1	O15354	GPR37_HUMAN	G protein-coupled receptor 37 (endothelin receptor type B-like)	145					dopamine biosynthetic process (GO:0042416)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotion involved in locomotory behavior (GO:0031987)|positive regulation of dopamine metabolic process (GO:0045964)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|ubiquitin ligase complex (GO:0000151)	G-protein coupled receptor activity (GO:0004930)|heat shock protein binding (GO:0031072)|Hsp70 protein binding (GO:0030544)|ubiquitin protein ligase binding (GO:0031625)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						ATCTGAAGGAAGAGCTGGAGG	0.627																																						uc003vli.2		NA																	0				ovary(1)|lung(1)|central_nervous_system(1)	3						c.(433-435)TTC>ATC		G protein-coupled receptor 37 precursor							71.0	84.0	80.0					7																	124404598		2203	4300	6503	SO:0001583	missense	2861					endoplasmic reticulum membrane|integral to plasma membrane	G-protein coupled receptor activity	g.chr7:124404598A>T		CCDS5792.1	7q31	2012-08-21			ENSG00000170775	ENSG00000170775		"""GPCR / Class A : Orphans"""	4494	protein-coding gene	gene with protein product		602583				9339362	Standard	NM_005302		Approved	EDNRBL, hET(B)R-LP, PAELR	uc003vli.4	O15354	OTTHUMG00000157197	ENST00000303921.2:c.433T>A	7.37:g.124404598A>T	ENSP00000306449:p.Phe145Ile						p.F145I	NM_005302	NP_005293	O15354	GPR37_HUMAN			1	1084	-			145			Extracellular (Potential).		A4D0Y6|O00348|O14768|Q8TD39	Missense_Mutation	SNP	ENST00000303921.2	37	c.433T>A	CCDS5792.1	.	.	.	.	.	.	.	.	.	.	A	9.760	1.169744	0.21621	.	.	ENSG00000170775	ENST00000303921	T	0.08102	3.13	5.25	1.61	0.23674	.	0.599903	0.17998	N	0.154982	T	0.04815	0.0130	N	0.24115	0.695	0.09310	N	1	B	0.20671	0.047	B	0.15484	0.013	T	0.44574	-0.9319	10	0.18276	T	0.48	-4.9116	6.8303	0.23907	0.7301:0.0:0.2699:0.0	.	145	O15354	GPR37_HUMAN	I	145	ENSP00000306449:F145I	ENSP00000306449:F145I	F	-	1	0	GPR37	124191834	0.000000	0.05858	0.088000	0.20740	0.515000	0.34225	-0.009000	0.12765	0.185000	0.20105	-0.274000	0.10170	TTC		0.627	GPR37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347873.1	NM_005302		17	154	0	0	0	0	17	154				
TRIM24	8805	broad.mit.edu	37	7	138239468	138239469	+	Missense_Mutation	DNP	GA	GA	TT			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr7:138239468_138239469GA>TT	ENST00000343526.4	+	9	1502_1503	c.1287_1288GA>TT	c.(1285-1290)gaGAgc>gaTTgc	p.429_430ES>DC	TRIM24_ENST00000497516.1_3'UTR|TRIM24_ENST00000415680.2_Missense_Mutation_p.429_430ES>DC			O15164	TIF1A_HUMAN	tripartite motif containing 24	429					calcium ion homeostasis (GO:0055074)|cellular response to estrogen stimulus (GO:0071391)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|regulation of protein stability (GO:0031647)|regulation of signal transduction by p53 class mediator (GO:1901796)|regulation of vitamin D receptor signaling pathway (GO:0070562)|response to peptide hormone (GO:0043434)|transcription from RNA polymerase II promoter (GO:0006366)	cytosol (GO:0005829)|nuclear euchromatin (GO:0005719)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)	chromatin binding (GO:0003682)|estrogen response element binding (GO:0034056)|ligase activity (GO:0016874)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein kinase activity (GO:0004672)|receptor binding (GO:0005102)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(5)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	40						AGGATAAAGAGAGCCAGCCACA	0.371																																					Pancreas(179;936 2074 16128 47811 50326)|Colon(136;168 1735 9344 12243 52014)	uc003vuc.2		NA																	0				central_nervous_system(3)|ovary(2)|stomach(1)|breast(1)|skin(1)	8						c.(1285-1290)GAGAGC>GATTGC		transcriptional intermediary factor 1 alpha																																				SO:0001583	missense	8805				cellular response to estrogen stimulus|protein catabolic process|regulation of apoptosis|regulation of protein stability|transcription from RNA polymerase II promoter	cytoplasm	chromatin binding|estrogen response element binding|histone acetyl-lysine binding|p53 binding|transcription coactivator activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr7:138239468_138239469GA>TT	AF009353	CCDS5847.1, CCDS47720.1	7q32-q34	2013-01-28	2011-01-25	2005-06-02	ENSG00000122779	ENSG00000122779		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, PHD-type"""	11812	protein-coding gene	gene with protein product		603406	"""transcriptional intermediary factor 1"", ""tripartite motif-containing 24"""	TIF1		9115274, 9191165	Standard	NM_003852		Approved	hTIF1, Tif1a, RNF82, TIF1A	uc003vuc.3	O15164	OTTHUMG00000155820	Exception_encountered	7.37:g.138239468_138239469delinsTT	ENSP00000340507:p.E429_S430delinsDC					TRIM24_uc003vub.2_Missense_Mutation_p.429_430ES>DC	p.429_430ES>DC	NM_015905	NP_056989	O15164	TIF1A_HUMAN			9	1502_1503	+			429_430					A4D1R7|A4D1R8|O95854	Missense_Mutation	DNP	ENST00000343526.4	37	c.1287_1288GA>TT	CCDS5847.1																																																																																				0.371	TRIM24-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341814.1	NM_015905		10	113	0	0	0	0	10	113				
SORBS3	10174	broad.mit.edu	37	8	22429318	22429318	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr8:22429318C>T	ENST00000240123.7	+	19	2214	c.1831C>T	c.(1831-1833)Cag>Tag	p.Q611*	SORBS3_ENST00000428103.1_Nonsense_Mutation_p.Q269*	NM_005775.4	NP_005766.3	O60504	VINEX_HUMAN	sorbin and SH3 domain containing 3	611					actin filament organization (GO:0007015)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|muscle contraction (GO:0006936)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cytoskeleton organization (GO:0051495)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of stress fiber assembly (GO:0051496)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)|vinculin binding (GO:0017166)	p.Q611*(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(9)	18		Prostate(55;0.0421)|Breast(100;0.102)		BRCA - Breast invasive adenocarcinoma(99;0.00566)|Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)		TAACACCTCTCAGATACACTG	0.607																																						uc003xbv.2		NA																	1	Substitution - Nonsense(1)		lung(1)		0						c.(1831-1833)CAG>TAG		sorbin and SH3 domain containing 3 isoform 1							97.0	84.0	88.0					8																	22429318		2203	4300	6503	SO:0001587	stop_gained	10174				muscle contraction|positive regulation of stress fiber assembly	cytoskeleton|cytosol|nucleus	protein binding|structural constituent of cytoskeleton|vinculin binding	g.chr8:22429318C>T		CCDS6031.1	8p21.3	2008-02-05			ENSG00000120896	ENSG00000120896			30907	protein-coding gene	gene with protein product		610795				9885244, 12510380	Standard	NM_001018003		Approved	SCAM-1, SH3D4, vinexin	uc003xbv.3	O60504	OTTHUMG00000131728	ENST00000240123.7:c.1831C>T	8.37:g.22429318C>T	ENSP00000240123:p.Gln611*					SORBS3_uc003xbw.3_Nonsense_Mutation_p.Q269*	p.Q611*	NM_005775	NP_005766	O60504	VINEX_HUMAN		BRCA - Breast invasive adenocarcinoma(99;0.00566)|Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)	19	2171	+		Prostate(55;0.0421)|Breast(100;0.102)	611					Q5BJE4|Q6NX54|Q96FY4|Q9UQE4	Nonsense_Mutation	SNP	ENST00000240123.7	37	c.1831C>T	CCDS6031.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.30|16.30	3.085142|3.085142	0.55861|0.55861	.|.	.|.	ENSG00000120896|ENSG00000120896	ENST00000240123;ENST00000428103;ENST00000523348|ENST00000521554	.|T	.|0.13307	.|2.6	5.69|5.69	1.47|1.47	0.22746|0.22746	.|.	0.825553|.	0.10380|.	N|.	0.681658|.	.|T	.|0.14270	.|0.0345	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.21314	.|-1.0249	.|4	0.45353|.	T|.	0.12|.	-11.8368|-11.8368	8.7948|8.7948	0.34872|0.34872	0.1645:0.3824:0.453:0.0|0.1645:0.3824:0.453:0.0	.|.	.|.	.|.	.|.	X|L	611;269;222|282	.|ENSP00000429058:S282L	ENSP00000240123:Q611X|.	Q|S	+|+	1|2	0|0	SORBS3|SORBS3	22485263|22485263	0.001000|0.001000	0.12720|0.12720	0.686000|0.686000	0.30086|0.30086	0.603000|0.603000	0.37013|0.37013	0.124000|0.124000	0.15728|0.15728	0.710000|0.710000	0.31997|0.31997	0.655000|0.655000	0.94253|0.94253	CAG|TCA		0.607	SORBS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254647.3	NM_005775		12	77	0	0	0	0	12	77				
POTEA	340441	broad.mit.edu	37	8	43157231	43157231	+	RNA	SNP	G	G	C	rs185823654	byFrequency	TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr8:43157231G>C	ENST00000522175.2	+	0	697				RNU6-104P_ENST00000459597.1_RNA			Q6S8J7	POTEA_HUMAN	POTE ankyrin domain family, member A											breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(27)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						TGAAGATTATGCAGTTTCTAG	0.294																																						uc003xpz.1		NA																	0				ovary(1)	1						c.(811-813)GCA>CCA		POTE ankyrin domain family, member A isoform 2							93.0	95.0	94.0					8																	43157231		2024	4210	6234			340441							g.chr8:43157231G>C	AY462869		8p11.1	2013-01-11	2008-11-26	2008-11-26	ENSG00000188877	ENSG00000188877		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33893	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 3"""	608915	"""ANKRD26-like family A, member 1"""	A26A1			Standard	NM_001002920		Approved	POTE8, POTE-8, CT104.3	uc003xpz.1	Q6S8J7	OTTHUMG00000164111		8.37:g.43157231G>C						POTEA_uc003xqa.1_Intron	p.A271P	NM_001005365	NP_001005365	Q6S8J7	POTEA_HUMAN			5	854	+			271					A6ND17|A6ND71|Q6S8J6	Missense_Mutation	SNP	ENST00000522175.2	37	c.811G>C																																																																																					0.294	POTEA-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000383492.1	NM_001002920		14	52	0	0	0	0	14	52				
SNX16	64089	broad.mit.edu	37	8	82713776	82713776	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr8:82713776C>T	ENST00000345957.4	-	8	1269	c.991G>A	c.(991-993)Gag>Aag	p.E331K	SNX16_ENST00000353788.4_Missense_Mutation_p.E302K|RP13-923O23.6_ENST00000524337.1_RNA|SNX16_ENST00000396330.2_Missense_Mutation_p.E331K	NM_152836.2	NP_690049.1	P57768	SNX16_HUMAN	sorting nexin 16	331					early endosome to late endosome transport (GO:0045022)|endosome to lysosome transport (GO:0008333)|protein targeting to lysosome (GO:0006622)	early endosome (GO:0005769)|extrinsic component of endosome membrane (GO:0031313)|late endosome (GO:0005770)|lysosome (GO:0005764)	identical protein binding (GO:0042802)|phosphatidylinositol binding (GO:0035091)			large_intestine(1)|ovary(1)|pancreas(1)|skin(2)	5						ACTTCTATCTCTGATACAGCA	0.353																																						uc011lft.1		NA																	0				ovary(1)|pancreas(1)	2						c.(991-993)GAG>AAG		sorting nexin 16 isoform a							175.0	175.0	175.0					8																	82713776		2203	4300	6503	SO:0001583	missense	64089				cell communication|early endosome to late endosome transport|endosome to lysosome transport|protein targeting to lysosome	early endosome membrane|extrinsic to endosome membrane|late endosome membrane|lysosome	identical protein binding|phosphatidylinositol binding	g.chr8:82713776C>T	AF305779	CCDS6234.1, CCDS6235.1	8q21.13	2011-05-03			ENSG00000104497	ENSG00000104497		"""Sorting nexins"""	14980	protein-coding gene	gene with protein product		614903				12461558, 12813048	Standard	NM_152837		Approved		uc003ycn.3	P57768	OTTHUMG00000164727	ENST00000345957.4:c.991G>A	8.37:g.82713776C>T	ENSP00000322652:p.Glu331Lys					SNX16_uc003ycn.2_Missense_Mutation_p.E331K|SNX16_uc003yco.2_Missense_Mutation_p.E302K	p.E331K	NM_022133	NP_071416	P57768	SNX16_HUMAN			9	1498	-			331					A8K4D8|Q658L0|Q8N4U3	Missense_Mutation	SNP	ENST00000345957.4	37	c.991G>A	CCDS6234.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.600565	0.87055	.	.	ENSG00000104497	ENST00000353788;ENST00000396330;ENST00000345957	T;T;T	0.52057	0.73;0.68;0.68	5.92	5.92	0.95590	.	0.443057	0.23997	N	0.042512	T	0.46425	0.1392	L	0.56769	1.78	0.29965	N	0.819018	B;B	0.31383	0.321;0.181	B;B	0.23275	0.045;0.022	T	0.50693	-0.8798	10	0.48119	T	0.1	-27.2453	18.4977	0.90870	0.0:1.0:0.0:0.0	.	302;331	Q658L0;P57768	.;SNX16_HUMAN	K	302;331;331	ENSP00000322631:E302K;ENSP00000379621:E331K;ENSP00000322652:E331K	ENSP00000322652:E331K	E	-	1	0	SNX16	82876331	1.000000	0.71417	0.399000	0.26333	0.572000	0.35998	3.495000	0.53280	2.801000	0.96364	0.650000	0.86243	GAG		0.353	SNX16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379929.1	NM_022133		5	107	0	0	0	0	5	107				
KCNV1	27012	broad.mit.edu	37	8	110980374	110980374	+	Silent	SNP	C	C	T			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr8:110980374C>T	ENST00000524391.1	-	4	2478	c.1446G>A	c.(1444-1446)ctG>ctA	p.L482L	KCNV1_ENST00000297404.1_Silent_p.L482L			Q6PIU1	KCNV1_HUMAN	potassium channel, subfamily V, member 1	482					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|ion channel inhibitor activity (GO:0008200)|potassium channel regulator activity (GO:0015459)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(20)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;5.35e-13)			CTCTGCCTTTCAGTCGCAGCA	0.388																																						uc003ynr.3		NA																	0				lung(1)|kidney(1)	2						c.(1444-1446)CTG>CTA		potassium channel, subfamily V, member 1							80.0	75.0	77.0					8																	110980374		2203	4300	6503	SO:0001819	synonymous_variant	27012					voltage-gated potassium channel complex	ion channel inhibitor activity|potassium channel regulator activity|voltage-gated potassium channel activity	g.chr8:110980374C>T	AF167082	CCDS6314.1	8q23.2	2011-07-05				ENSG00000164794		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18861	protein-coding gene	gene with protein product		608164				8670833, 16382104	Standard	NM_014379		Approved	Kv8.1	uc003ynr.4	Q6PIU1		ENST00000524391.1:c.1446G>A	8.37:g.110980374C>T						KCNV1_uc010mcw.2_Silent_p.L482L	p.L482L	NM_014379	NP_055194	Q6PIU1	KCNV1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;5.35e-13)		3	1788	-	all_neural(195;0.219)		482			Cytoplasmic (Potential).		Q9UHJ4	Silent	SNP	ENST00000524391.1	37	c.1446G>A	CCDS6314.1																																																																																				0.388	KCNV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385525.1	NM_014379		10	35	0	0	0	0	10	35				
SPTLC1	10558	broad.mit.edu	37	9	94794749	94794749	+	Nonstop_Mutation	SNP	A	A	G			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr9:94794749A>G	ENST00000262554.2	-	15	1425	c.1420T>C	c.(1420-1422)Tag>Cag	p.*474Q		NM_006415.2	NP_006406.1	O15269	SPTC1_HUMAN	serine palmitoyltransferase, long chain base subunit 1	0					ceramide biosynthetic process (GO:0046513)|small molecule metabolic process (GO:0044281)|sphinganine biosynthetic process (GO:0046511)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingomyelin biosynthetic process (GO:0006686)|sphingosine biosynthetic process (GO:0046512)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|serine C-palmitoyltransferase complex (GO:0017059)|SPOTS complex (GO:0035339)	pyridoxal phosphate binding (GO:0030170)|serine C-palmitoyltransferase activity (GO:0004758)			breast(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	14					L-Serine(DB00133)	GACTCTGCCTAGAGCAGGACG	0.582																																						uc004arl.1		NA																	0				ovary(1)|breast(1)	2						c.(1420-1422)TAG>CAG		serine palmitoyltransferase subunit 1 isoform a	L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)						140.0	112.0	122.0					9																	94794749		2203	4300	6503	SO:0001578	stop_lost	10558					integral to membrane|SPOTS complex	protein binding|pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups	g.chr9:94794749A>G	Y08685	CCDS6692.1, CCDS6693.1	9q22.31	2014-09-17	2003-12-02		ENSG00000090054	ENSG00000090054	2.3.1.50		11277	protein-coding gene	gene with protein product		605712	"""hereditary sensory neuropathy, type 1"""	HSN1		9363775	Standard	NM_006415		Approved	LCB1, SPTI, HSAN1, hLCB1	uc004arl.1	O15269	OTTHUMG00000021047	ENST00000262554.2:c.1420T>C	9.37:g.94794749A>G	ENSP00000262554:p.*474Gluext*27					SPTLC1_uc011ltv.1_Missense_Mutation_p.L463P	p.*474Q	NM_006415	NP_006406	O15269	SPTC1_HUMAN			15	1458	-			474					A8K681|Q5VWB4|Q96IX6	Nonstop_Mutation	SNP	ENST00000262554.2	37	c.1420T>C	CCDS6692.1	.	.	.	.	.	.	.	.	.	.	A	14.60	2.583126	0.46006	.	.	ENSG00000090054	ENST00000262554	.	.	.	5.18	5.18	0.71444	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.1483	0.65364	1.0:0.0:0.0:0.0	.	.	.	.	Q	474	.	.	X	-	1	0	SPTLC1	93834570	0.982000	0.34865	0.410000	0.26471	0.545000	0.35147	2.836000	0.48183	2.179000	0.69175	0.533000	0.62120	TAG		0.582	SPTLC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055553.1	NM_006415		11	45	0	0	0	0	11	45				
AKAP2	11217	broad.mit.edu	37	9	112898859	112898859	+	Silent	SNP	C	C	T	rs374267815		TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr9:112898859C>T	ENST00000259318.7	+	2	549	c.342C>T	c.(340-342)caC>caT	p.H114H	PALM2-AKAP2_ENST00000302798.7_Silent_p.H345H|AKAP2_ENST00000555236.1_Silent_p.H345H|AKAP2_ENST00000374525.1_Silent_p.H203H|PALM2-AKAP2_ENST00000374530.3_Silent_p.H345H|AKAP2_ENST00000434623.2_Silent_p.H203H|AKAP2_ENST00000510514.5_Silent_p.H345H	NM_001136562.2	NP_001130034.1	Q9Y2D5	AKAP2_HUMAN	A kinase (PRKA) anchor protein 2	114										breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	33						CACCTCCTCACATCGAGCTCA	0.622																																						uc004bei.2		NA																	0				ovary(3)|central_nervous_system(2)|skin(1)	6						c.(1729-1731)CAC>CAT		A kinase (PRKA) anchor protein 2 isoform 2		C	,,,,	0,4406		0,0,2203	53.0	50.0	51.0		609,342,609,1035,1035	6.2	0.0	9		51	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	AKAP2,PALM2-AKAP2	NM_001004065.4,NM_001136562.2,NM_001198656.1,NM_007203.4,NM_147150.2	,,,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,,,	203/949,114/860,203/962,345/1104,345/1091	112898859	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	445815						enzyme binding	g.chr9:112898859C>T	AB023137	CCDS43861.1, CCDS48003.1, CCDS56581.1	9q31.3	2009-10-16			ENSG00000241978	ENSG00000241978		"""A-kinase anchor proteins"""	372	protein-coding gene	gene with protein product	"""protein kinase A2"""	604582		PRKA2		10231032	Standard	NM_001136562		Approved	AKAP-KL, KIAA0920, DKFZp564L0716		Q9Y2D5	OTTHUMG00000156811	ENST00000259318.7:c.342C>T	9.37:g.112898859C>T						PALM2-AKAP2_uc004bek.3_Silent_p.H345H|PALM2-AKAP2_uc004bej.3_Silent_p.H345H|PALM2-AKAP2_uc004bel.1_Silent_p.H155H|AKAP2_uc011lwi.1_Silent_p.H203H|AKAP2_uc004bem.2_Silent_p.H203H|PALM2-AKAP2_uc010mtw.1_Silent_p.H163H|AKAP2_uc011lwj.1_Silent_p.H114H|PALM2-AKAP2_uc004ben.2_Silent_p.H114H	p.H577H	NM_001136562	NP_001130034	Q9Y2D5	AKAP2_HUMAN			9	1923	+			114					B1ALX9|B2RTU4|B3KQ00|B4DTZ2|B7ZW07|B9EJB5|Q9UG26	Silent	SNP	ENST00000259318.7	37	c.1731C>T	CCDS48003.1																																																																																				0.622	AKAP2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000346067.3	NM_001004065		9	62	0	0	0	0	9	62				
NOTCH1	4851	broad.mit.edu	37	9	139407980	139407980	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr9:139407980G>T	ENST00000277541.6	-	14	2292	c.2217C>A	c.(2215-2217)tgC>tgA	p.C739*		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	739	EGF-like 19; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GGTCACAGTCGCACTTGTACC	0.612			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)																												uc004chz.2		NA		Dom	yes		9	9q34.3	4851	T|Mis|O	"""Notch homolog 1, translocation-associated (Drosophila) (TAN1)"""			L	TRB@		T-ALL		0				haematopoietic_and_lymphoid_tissue(791)|upper_aerodigestive_tract(29)|lung(13)|central_nervous_system(10)|breast(9)|large_intestine(1)|skin(1)|oesophagus(1)|pancreas(1)	856						c.(2215-2217)TGC>TGA		notch1 preproprotein							85.0	92.0	89.0					9																	139407980		2169	4259	6428	SO:0001587	stop_gained	4851				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr9:139407980G>T	AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"""Ankyrin repeat domain containing"""	7881	protein-coding gene	gene with protein product		190198	"""Notch (Drosophila) homolog 1 (translocation-associated)"", ""Notch homolog 1, translocation-associated (Drosophila)"""	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.2217C>A	9.37:g.139407980G>T	ENSP00000277541:p.Cys739*	HNSCC(8;0.001)				NOTCH1_uc004cia.1_5'UTR	p.C739*	NM_017617	NP_060087	P46531	NOTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)	14	2217	-	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)	739			Extracellular (Potential).|EGF-like 19; calcium-binding (Potential).		Q59ED8|Q5SXM3	Nonsense_Mutation	SNP	ENST00000277541.6	37	c.2217C>A	CCDS43905.1	.	.	.	.	.	.	.	.	.	.	G	36	5.690848	0.96793	.	.	ENSG00000148400	ENST00000277541	.	.	.	4.76	2.42	0.29668	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	6.8924	0.24236	0.7314:0.0:0.2686:0.0	.	.	.	.	X	739	.	ENSP00000277541:C739X	C	-	3	2	NOTCH1	138527801	0.984000	0.35163	0.981000	0.43875	0.175000	0.22909	0.593000	0.23999	0.220000	0.20860	-0.391000	0.06502	TGC		0.612	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	NM_017617		16	9	1	0	3.41e-10	4.55e-10	16	9				
TBX22	50945	broad.mit.edu	37	X	79286052	79286052	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chrX:79286052G>T	ENST00000373294.5	+	8	1033	c.1005G>T	c.(1003-1005)ttG>ttT	p.L335F	TBX22_ENST00000373296.3_Missense_Mutation_p.L335F|TBX22_ENST00000373291.1_Missense_Mutation_p.L215F|TBX22_ENST00000442340.1_Missense_Mutation_p.L215F	NM_016954.2	NP_058650.1	Q9Y458	TBX22_HUMAN	T-box 22	335					multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(13)|lung(38)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						CCTCTCCTTTGAACTCCTTAC	0.473																																						uc010nmg.1		NA																	0				lung(7)|large_intestine(3)|central_nervous_system(2)|breast(1)|skin(1)|ovary(1)	15						c.(1003-1005)TTG>TTT		T-box 22 isoform 1							110.0	101.0	104.0					X																	79286052		2203	4300	6503	SO:0001583	missense	50945				multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:79286052G>T	AL031000	CCDS14445.1, CCDS43975.1	Xq21.1	2011-02-11			ENSG00000122145	ENSG00000122145		"""T-boxes"""	11600	protein-coding gene	gene with protein product		300307	"""cleft palate and/or ankyloglossia"""	CPX, CLPA		11559848, 14729838	Standard	NM_001109878		Approved		uc004edj.1	Q9Y458	OTTHUMG00000021901	ENST00000373294.5:c.1005G>T	X.37:g.79286052G>T	ENSP00000362390:p.Leu335Phe					TBX22_uc004edi.1_Missense_Mutation_p.L215F|TBX22_uc004edj.1_Missense_Mutation_p.L335F	p.L335F	NM_001109878	NP_001103348	Q9Y458	TBX22_HUMAN			9	1139	+			335					Q5JZ06|Q96LC0|Q9HBF1	Missense_Mutation	SNP	ENST00000373294.5	37	c.1005G>T	CCDS14445.1	.	.	.	.	.	.	.	.	.	.	G	11.27	1.588194	0.28357	.	.	ENSG00000122145	ENST00000373296;ENST00000442340;ENST00000373294;ENST00000373291	D;D;D;D	0.83250	-1.7;-1.7;-1.7;-1.7	4.64	3.77	0.43336	.	0.508219	0.16869	N	0.196216	D	0.84584	0.5504	M	0.62723	1.935	0.39016	D	0.959644	D	0.71674	0.998	P	0.58721	0.844	T	0.80228	-0.1469	10	0.10377	T	0.69	.	9.0748	0.36515	0.1076:0.0:0.8924:0.0	.	335	Q9Y458	TBX22_HUMAN	F	335;215;335;215	ENSP00000362393:L335F;ENSP00000396394:L215F;ENSP00000362390:L335F;ENSP00000362388:L215F	ENSP00000362388:L215F	L	+	3	2	TBX22	79172708	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	0.797000	0.26999	0.746000	0.32786	0.513000	0.50165	TTG		0.473	TBX22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057334.1	NM_016954		34	43	1	0	1.02e-06	1.32e-06	34	43				
NXF5	55998	broad.mit.edu	37	X	101092616	101092616	+	Silent	SNP	C	C	T			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chrX:101092616C>T	ENST00000361708.2	-	15	1289	c.930G>A	c.(928-930)agG>agA	p.R310R	NXF5_ENST00000473265.2_Silent_p.R310R|NXF5_ENST00000537026.1_Silent_p.R310R			Q9H1B4	NXF5_HUMAN	nuclear RNA export factor 5	310	NTF2; truncated.				mRNA export from nucleus (GO:0006406)|multicellular organismal development (GO:0007275)|RNA transport (GO:0050658)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|skin(1)	30						TTAGCAGCTTCCTCTGCAGGT	0.527																																						uc011mrk.1		NA																	0				central_nervous_system(1)	1						c.(928-930)AGG>AGA		nuclear RNA export factor 5							136.0	116.0	123.0					X																	101092616		2203	4300	6503	SO:0001819	synonymous_variant	55998				mRNA export from nucleus|multicellular organismal development	actin cytoskeleton|cytoplasm|nucleus	nucleocytoplasmic transporter activity|nucleotide binding|protein binding|RNA binding	g.chrX:101092616C>T	AJ277654	CCDS14491.1, CCDS14491.2	Xq22	2008-07-28			ENSG00000126952	ENSG00000126952			8075	protein-coding gene	gene with protein product		300319				11566096	Standard	NM_032946		Approved		uc011mrk.1	Q9H1B4	OTTHUMG00000022042	ENST00000361708.2:c.930G>A	X.37:g.101092616C>T						NXF5_uc004eih.1_RNA|NXF5_uc004eii.1_RNA|NXF5_uc004eij.1_RNA|NXF5_uc004eik.1_RNA|NXF5_uc004eil.1_RNA	p.R310R	NM_032946	NP_116564	Q9H1B4	NXF5_HUMAN			15	1290	-			310			NTF2; truncated.		A2RRM0|B1AV82|B1AV83|B1AV84|B1AV85|Q9H1B0|Q9H1B1|Q9H1B2|Q9H1B3	Silent	SNP	ENST00000361708.2	37	c.930G>A																																																																																					0.527	NXF5-201	KNOWN	basic	protein_coding	protein_coding				5	72	0	0	0	0	5	72				
CTTN	2017	broad.mit.edu	37	11	70275169	70275178	+	Frame_Shift_Del	DEL	CAAGTAACAT	CAAGTAACAT	-			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr11:70275169_70275178delCAAGTAACAT	ENST00000301843.8	+	14	1246_1255	c.1040_1049delCAAGTAACAT	c.(1039-1050)acaagtaacatcfs	p.TSNI347fs	CTTN_ENST00000376561.3_Frame_Shift_Del_p.TSNI310fs|CTTN_ENST00000346329.3_Frame_Shift_Del_p.TSNI310fs|CTTN_ENST00000538675.1_Frame_Shift_Del_p.TSNI31fs	NM_005231.3	NP_005222.2	Q14247	SRC8_HUMAN	cortactin	347					negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|mitotic spindle midzone (GO:1990023)|ruffle (GO:0001726)				breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	31			BRCA - Breast invasive adenocarcinoma(2;4.34e-41)|LUSC - Lung squamous cell carcinoma(11;1.51e-13)|STAD - Stomach adenocarcinoma(18;0.0513)	Lung(977;0.0234)|LUSC - Lung squamous cell carcinoma(976;0.133)		ACCAGCAAAACAAGTAACATCAGAGCTAAC	0.567																																						uc001opv.3		NA																	0				ovary(1)	1						c.(1039-1050)ACAAGTAACATCfs		cortactin isoform a																																				SO:0001589	frameshift_variant	2017					cell cortex|cytoskeleton|lamellipodium|ruffle|soluble fraction	protein binding	g.chr11:70275169_70275178delCAAGTAACAT	AJ288897	CCDS8197.1, CCDS41680.1, CCDS53676.1	11q13	2008-02-05	2004-06-08	2004-06-09	ENSG00000085733	ENSG00000085733			3338	protein-coding gene	gene with protein product		164765	"""ems1 sequence (mammary tumor and squamous cell carcinoma-associated (p80/85 src substrate)"""	EMS1		7685625	Standard	NM_005231		Approved		uc001opu.3	Q14247	OTTHUMG00000134307	ENST00000301843.8:c.1040_1049delCAAGTAACAT	11.37:g.70275169_70275178delCAAGTAACAT	ENSP00000301843:p.Thr347fs					CTTN_uc001opu.2_Frame_Shift_Del_p.T310fs|CTTN_uc001opw.3_Frame_Shift_Del_p.T310fs|CTTN_uc010rqm.1_Frame_Shift_Del_p.T31fs|CTTN_uc001opx.2_Frame_Shift_Del_p.T31fs	p.T347fs	NM_005231	NP_005222	Q14247	SRC8_HUMAN	BRCA - Breast invasive adenocarcinoma(2;4.34e-41)|LUSC - Lung squamous cell carcinoma(11;1.51e-13)|STAD - Stomach adenocarcinoma(18;0.0513)	Lung(977;0.0234)|LUSC - Lung squamous cell carcinoma(976;0.133)	14	1246_1255	+			347_350					Q8N707|Q96H99	Frame_Shift_Del	DEL	ENST00000301843.8	37	c.1040_1049delCAAGTAACAT	CCDS41680.1																																																																																				0.567	CTTN-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259233.2	NM_138565		18	1368	NA	NA	NA	NA	18	1368	---	---	---	---
FSD2	123722	broad.mit.edu	37	15	83434772	83434772	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr15:83434772delC	ENST00000334574.8	-	10	1746	c.1565delG	c.(1564-1566)ggcfs	p.G522fs	FSD2_ENST00000541889.1_Frame_Shift_Del_p.G477fs			A1L4K1	FSD2_HUMAN	fibronectin type III and SPRY domain containing 2	522	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.									breast(2)|central_nervous_system(1)|large_intestine(5)|lung(10)	18						GGTCGGGATGCCCACAACAGA	0.597																																						uc002bjd.2		NA																	0				central_nervous_system(1)	1						c.(1564-1566)GGCfs		fibronectin type III and SPRY domain containing							15.0	17.0	16.0					15																	83434772		2013	4178	6191	SO:0001589	frameshift_variant	123722							g.chr15:83434772delC	AK122875	CCDS45332.1, CCDS61738.1	15q25.2	2013-02-11	2006-01-11	2006-01-11		ENSG00000186628		"""Fibronectin type III domain containing"""	18024	protein-coding gene	gene with protein product			"""SPRY domain containing 1"""	SPRYD1			Standard	NM_001007122		Approved	RP11-127F21	uc002bjd.2	A1L4K1		ENST00000334574.8:c.1565delG	15.37:g.83434772delC	ENSP00000335651:p.Gly522fs					FSD2_uc010uol.1_Frame_Shift_Del_p.G477fs|FSD2_uc010uom.1_Frame_Shift_Del_p.G477fs	p.G522fs	NM_001007122	NP_001007123	A1L4K1	FSD2_HUMAN			10	1732	-			522			Fibronectin type-III 2.		B3KVG1|B7ZM02	Frame_Shift_Del	DEL	ENST00000334574.8	37	c.1565delG	CCDS45332.1																																																																																				0.597	FSD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418385.1	NM_001007122		2	4	NA	NA	NA	NA	2	4	---	---	---	---
TP53	7157	broad.mit.edu	37	17	7577516	7577517	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr17:7577516_7577517insA	ENST00000269305.4	-	7	953_954	c.764_765insT	c.(763-765)atcfs	p.I255fs	TP53_ENST00000445888.2_Frame_Shift_Ins_p.I255fs|TP53_ENST00000420246.2_Frame_Shift_Ins_p.I255fs|TP53_ENST00000413465.2_Frame_Shift_Ins_p.I255fs|TP53_ENST00000359597.4_Frame_Shift_Ins_p.I255fs|TP53_ENST00000455263.2_Frame_Shift_Ins_p.I255fs|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	255	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		I -> F (in sporadic cancers; somatic mutation).|I -> M (in sporadic cancers; somatic mutation).|I -> N (in sporadic cancers; somatic mutation).|I -> S (in sporadic cancers; somatic mutation).|I -> T (in sporadic cancers; somatic mutation).|I -> V (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.I255S(10)|p.0?(8)|p.I255del(7)|p.I255N(7)|p.I255T(7)|p.I255I(2)|p.I255fs*8(1)|p.?(1)|p.T256fs*8(1)|p.I254fs*7(1)|p.I255M(1)|p.I254_T256del(1)|p.R249_T256delRPILTIIT(1)|p.T256fs*17(1)|p.T256del(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)	CTTCCAGTGTGATGATGGTGAG	0.584		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	Mis|N|F	tumor protein p53			"""L, E, M, O"""		breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types		50	Substitution - Missense(25)|Deletion - In frame(10)|Whole gene deletion(8)|Insertion - Frameshift(2)|Deletion - Frameshift(2)|Substitution - coding silent(2)|Unknown(1)	p.I255F(16)|p.0?(7)|p.I255del(7)|p.I255S(7)|p.I255N(7)|p.I255T(7)|p.I255fs*90(4)|p.I255fs*9(3)|p.I255V(3)|p.T253_I255del(2)|p.I255I(2)|p.I255fs*8(1)|p.?(1)|p.T256fs*8(1)|p.I254fs*7(1)|p.I255M(1)|p.R249_T256delRPILTIIT(1)|p.T256fs*17(1)|p.I254_T256del(1)	breast(12)|pancreas(6)|ovary(5)|upper_aerodigestive_tract(4)|bone(4)|large_intestine(3)|oesophagus(3)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|urinary_tract(2)|lung(2)|thyroid(1)|stomach(1)|liver(1)|endometrium(1)|skin(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245						c.(763-765)ATCfs	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a																																				SO:0001589	frameshift_variant	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577516_7577517insA	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.765dupT	17.37:g.7577517_7577517dupA	ENSP00000269305:p.Ile255fs	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Frame_Shift_Ins_p.I255fs|TP53_uc002gih.2_Frame_Shift_Ins_p.I255fs|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Frame_Shift_Ins_p.I123fs|TP53_uc010cng.1_Frame_Shift_Ins_p.I123fs|TP53_uc002gii.1_Frame_Shift_Ins_p.I123fs|TP53_uc010cnh.1_Frame_Shift_Ins_p.I255fs|TP53_uc010cni.1_Frame_Shift_Ins_p.I255fs|TP53_uc002gij.2_Frame_Shift_Ins_p.I255fs|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Frame_Shift_Ins_p.I162fs|TP53_uc002gio.2_Frame_Shift_Ins_p.I123fs	p.I255fs	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	7	958_959	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	255		I -> T (in sporadic cancers; somatic mutation).|I -> S (in sporadic cancers; somatic mutation).|I -> M (in sporadic cancers; somatic mutation).|I -> V (in sporadic cancers; somatic mutation).|I -> N (in sporadic cancers; somatic mutation).|I -> F (in sporadic cancers; somatic mutation).	|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Frame_Shift_Ins	INS	ENST00000269305.4	37	c.764_765insT	CCDS11118.1																																																																																				0.584	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		38	63	NA	NA	NA	NA	38	63	---	---	---	---
MFAP4	4239	broad.mit.edu	37	17	19290122	19290123	+	In_Frame_Ins	INS	-	-	AGC	rs536562220	byFrequency	TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr17:19290122_19290123insAGC	ENST00000299610.4	-	2	119_120	c.35_36insGCT	c.(34-36)ctt>ctGCTt	p.12_12L>LL	MFAP4_ENST00000497081.2_In_Frame_Ins_p.37_37L>LL|MFAP4_ENST00000574313.2_5'Flank|MFAP4_ENST00000395592.2_In_Frame_Ins_p.36_36L>LL	NM_002404.2	NP_002395.1	P55083	MFAP4_HUMAN	microfibrillar-associated protein 4	12					cell adhesion (GO:0007155)|cellular response to UV-B (GO:0071493)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|extracellular matrix organization (GO:0030198)|regulation of collagen metabolic process (GO:0010712)|UV protection (GO:0009650)	elastic fiber (GO:0071953)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)				large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	10	all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206)					GCGTGGAGAGAAGCAGCAGCAG	0.649														9	0.00179712	0.0	0.0014	5008	,	,		13294	0.0		0.003	False		,,,				2504	0.0051					uc002gvt.2		NA																	0					0						c.(34-36)CTT>CTGCTT		microfibrillar-associated protein 4 precursor			,	3,4063		1,1,2031					,	-8.1	0.1			10	91,7861		7,77,3892	no	coding,coding	MFAP4	NM_002404.2,NM_001198695.1	,	8,78,5923	A1A1,A1R,RR		1.1444,0.0738,0.7822	,	,		94,11924				SO:0001652	inframe_insertion	4239				cell adhesion|signal transduction	microfibril	receptor binding	g.chr17:19290122_19290123insAGC	L38486	CCDS11208.1, CCDS56023.1	17p11.2	2013-02-06			ENSG00000166482	ENSG00000166482		"""Fibrinogen C domain containing"""	7035	protein-coding gene	gene with protein product	"""microfibril-associated glycoprotein 4"""	600596				7633408	Standard	NM_001198695		Approved		uc002gvs.3	P55083	OTTHUMG00000059585	ENST00000299610.4:c.33_35dupGCT	17.37:g.19290129_19290131dupAGC	ENSP00000299610:p.Leu13dup					MFAP4_uc002gvr.2_RNA|MFAP4_uc002gvs.2_In_Frame_Ins_p.36_36L>LL	p.12_12L>LL	NM_002404	NP_002395	P55083	MFAP4_HUMAN			2	60_61	-	all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206)		12					A8KAJ1|A8MVM2|B4E317|Q6P680	In_Frame_Ins	INS	ENST00000299610.4	37	c.35_36insGCT	CCDS11208.1																																																																																				0.649	MFAP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132493.2	NM_002404		3	5	NA	NA	NA	NA	3	5	---	---	---	---
ATR	545	broad.mit.edu	37	3	142176524	142176524	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr3:142176524delA	ENST00000350721.4	-	45	7698	c.7577delT	c.(7576-7578)atgfs	p.M2526fs	ATR_ENST00000383101.3_Frame_Shift_Del_p.M2462fs	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ATR serine/threonine kinase	2526	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|multicellular organismal development (GO:0007275)|negative regulation of DNA replication (GO:0008156)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|protein autophosphorylation (GO:0046777)|regulation of protein binding (GO:0043393)|replicative senescence (GO:0090399)|response to drug (GO:0042493)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|PML body (GO:0016605)|XY body (GO:0001741)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|MutLalpha complex binding (GO:0032405)|MutSalpha complex binding (GO:0032407)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						CTCTGTTCCCATAGGACCCAT	0.388								Other conserved DNA damage response genes																														uc003eux.3		NA																	0				lung(5)|skin(5)|breast(4)|ovary(3)|stomach(1)|central_nervous_system(1)|liver(1)	20						c.(7576-7578)ATGfs	Other_conserved_DNA_damage_response_genes	ataxia telangiectasia and Rad3 related protein							98.0	92.0	94.0					3																	142176524		2203	4300	6503	SO:0001589	frameshift_variant	545				cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity	g.chr3:142176524delA	U76308	CCDS3124.1	3q23	2014-06-17	2014-06-17		ENSG00000175054	ENSG00000175054			882	protein-coding gene	gene with protein product	"""MEC1, mitosis entry checkpoint 1, homolog (S. cerevisiae)"""	601215	"""ataxia telangiectasia and Rad3 related"""			8978690, 8610130	Standard	NM_001184		Approved	FRP1, SCKL, SCKL1, MEC1	uc003eux.4	Q13535	OTTHUMG00000159234	ENST00000350721.4:c.7577delT	3.37:g.142176524delA	ENSP00000343741:p.Met2526fs					ATR_uc003euy.1_Frame_Shift_Del_p.M412fs	p.M2526fs	NM_001184	NP_001175	Q13535	ATR_HUMAN			45	7699	-			2526			PI3K/PI4K.		Q59HB2|Q7KYL3|Q93051|Q9BXK4	Frame_Shift_Del	DEL	ENST00000350721.4	37	c.7577delT	CCDS3124.1																																																																																				0.388	ATR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353995.2	NM_001184		10	108	NA	NA	NA	NA	10	108	---	---	---	---
SMC4	10051	broad.mit.edu	37	3	160150162	160150162	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr3:160150162delA	ENST00000357388.3	+	22	3840	c.3389delA	c.(3388-3390)caafs	p.Q1130fs	SMC4_ENST00000360111.2_Frame_Shift_Del_p.Q1072fs|SMC4_ENST00000469762.1_Frame_Shift_Del_p.Q1105fs|RP11-432B6.3_ENST00000483754.1_Intron|SMC4_ENST00000462787.1_Frame_Shift_Del_p.Q1072fs|SMC4_ENST00000344722.5_Frame_Shift_Del_p.Q1130fs	NM_001002800.1	NP_001002800.1	Q9NTJ3	SMC4_HUMAN	structural maintenance of chromosomes 4	1130					kinetochore organization (GO:0051383)|meiotic chromosome condensation (GO:0010032)|meiotic chromosome segregation (GO:0045132)|mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)|mitotic sister chromatid segregation (GO:0000070)	condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein heterodimerization activity (GO:0046982)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(15)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			CTTCGGAAACAAAGGCTTAAT	0.348																																						uc003fdh.2		NA																	0				ovary(1)|breast(1)	2						c.(3388-3390)CAAfs		SMC4 structural maintenance of chromosomes							63.0	69.0	67.0					3																	160150162		2196	4295	6491	SO:0001589	frameshift_variant	10051				cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	ATP binding|protein heterodimerization activity	g.chr3:160150162delA	AF092564	CCDS3189.1, CCDS75046.1	3q26.1	2006-07-06	2006-07-06	2006-07-06	ENSG00000113810	ENSG00000113810		"""Structural maintenance of chromosomes proteins"""	14013	protein-coding gene	gene with protein product		605575	"""SMC4 (structural maintenance of chromosomes 4, yeast)-like 1"", ""SMC4 structural maintenance of chromosomes 4-like 1 (yeast)"""	SMC4L1		9789013, 10319587	Standard	NM_005496		Approved	hCAP-C, CAP-C	uc003fdh.3	Q9NTJ3	OTTHUMG00000159006	ENST00000357388.3:c.3389delA	3.37:g.160150162delA	ENSP00000349961:p.Gln1130fs					IFT80_uc003fda.2_Intron|SMC4_uc003fdi.2_Frame_Shift_Del_p.Q1105fs|SMC4_uc003fdj.2_Frame_Shift_Del_p.Q1130fs|SMC4_uc010hwd.2_Frame_Shift_Del_p.Q1072fs|SMC4_uc003fdl.2_Frame_Shift_Del_p.Q833fs	p.Q1130fs	NM_001002800	NP_001002800	Q9NTJ3	SMC4_HUMAN	Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)		22	3502	+			1130					A6NLT9|D3DNL8|O95752|Q8NDL4|Q9UNT9	Frame_Shift_Del	DEL	ENST00000357388.3	37	c.3389delA	CCDS3189.1																																																																																				0.348	SMC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352862.1			29	55	NA	NA	NA	NA	29	55	---	---	---	---
SEMA5A	9037	broad.mit.edu	37	5	9054270	9054270	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr5:9054270delG	ENST00000382496.5	-	19	3283	c.2618delC	c.(2617-2619)ccgfs	p.P873fs	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	873	TSP type-1 6. {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						TCCATAGGCCGGGGCTGGATT	0.607																																						uc003jek.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(2617-2619)CCGfs		semaphorin 5A precursor							62.0	58.0	59.0					5																	9054270		2203	4300	6503	SO:0001589	frameshift_variant	9037				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane		g.chr5:9054270delG	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.2618delC	5.37:g.9054270delG	ENSP00000371936:p.Pro873fs						p.P873fs	NM_003966	NP_003957	Q13591	SEM5A_HUMAN			19	3330	-			873			TSP type-1 6.|Extracellular (Potential).		D3DTC6|O60408|Q1RLL9	Frame_Shift_Del	DEL	ENST00000382496.5	37	c.2618delC	CCDS3875.1																																																																																				0.607	SEMA5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206989.2			10	66	NA	NA	NA	NA	10	66	---	---	---	---
