#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
MXRA8	54587	broad.mit.edu	37	1	1290234	1290234	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr1:1290234G>C	ENST00000309212.6	-	5	807	c.777C>G	c.(775-777)atC>atG	p.I259M	MXRA8_ENST00000477278.2_Missense_Mutation_p.I250M|MXRA8_ENST00000342753.4_Missense_Mutation_p.I158M|MXRA8_ENST00000445648.2_Missense_Mutation_p.I259M	NM_001282582.1|NM_032348.2	NP_001269511.1|NP_115724.1	Q9BRK3	MXRA8_HUMAN	matrix-remodelling associated 8	259	Ig-like V-type 2.				establishment of glial blood-brain barrier (GO:0060857)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(3)	7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		CCAGCGGCTCGATACGCAGTG	0.687																																						uc001aew.2		NA																	0					0						c.(775-777)ATC>ATG		matrix-remodelling associated 8 precursor							22.0	25.0	24.0					1																	1290234		2191	4289	6480	SO:0001583	missense	54587					integral to membrane		g.chr1:1290234G>C	BC006213	CCDS24.1, CCDS59950.1, CCDS59951.1, CCDS59952.1	1p36.33	2013-01-11			ENSG00000162576	ENSG00000162576		"""Immunoglobulin superfamily / V-set domain containing"""	7542	protein-coding gene	gene with protein product	"""limitrin"""					14603461	Standard	XM_005244758		Approved	DKFZp586E2023	uc001aew.3	Q9BRK3	OTTHUMG00000002973	ENST00000309212.6:c.777C>G	1.37:g.1290234G>C	ENSP00000307887:p.Ile259Met					MXRA8_uc001aex.3_Missense_Mutation_p.I259M|MXRA8_uc001aey.3_Missense_Mutation_p.I259M|MXRA8_uc010nyl.1_Missense_Mutation_p.I259M|MXRA8_uc001aez.2_Missense_Mutation_p.I158M|MXRA8_uc001afa.2_Missense_Mutation_p.I250M	p.I259M	NM_032348	NP_115724	Q9BRK3	MXRA8_HUMAN		Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)	5	808	-	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)	259			Ig-like V-type 2.|Extracellular (Potential).		B3KTR6|B4DE34|Q5TA39|Q96KC3	Missense_Mutation	SNP	ENST00000309212.6	37	c.777C>G	CCDS24.1	.	.	.	.	.	.	.	.	.	.	.	12.80	2.047021	0.36085	.	.	ENSG00000162576	ENST00000309212;ENST00000378864;ENST00000342753;ENST00000445648	T;T;T	0.46819	0.86;0.86;0.86	4.24	-1.83	0.07833	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.054454	0.64402	U	0.000001	T	0.60405	0.2266	M	0.81497	2.545	0.35681	D	0.814106	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.997;1.0;0.999;0.995;0.997	T	0.62728	-0.6793	10	0.72032	D	0.01	.	4.2725	0.10794	0.3729:0.0:0.3894:0.2378	.	250;158;237;259;259	B3KTR6;B4DE34;B4E385;Q9BRK3-2;Q9BRK3	.;.;.;.;MXRA8_HUMAN	M	259;250;158;259	ENSP00000307887:I259M;ENSP00000344998:I158M;ENSP00000399229:I259M	ENSP00000307887:I259M	I	-	3	3	MXRA8	1280097	0.652000	0.27349	0.980000	0.43619	0.506000	0.33950	0.020000	0.13466	-0.382000	0.07870	0.298000	0.19748	ATC		0.687	MXRA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008282.2	NM_032348		9	30	0	0	0	0	9	30				
ATAD3B	83858	broad.mit.edu	37	1	1417591	1417591	+	Silent	SNP	C	C	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr1:1417591C>T	ENST00000308647.7	+	6	704	c.588C>T	c.(586-588)cgC>cgT	p.R196R	ATAD3B_ENST00000378741.3_Silent_p.R28R|ATAD3B_ENST00000378736.3_3'UTR	NM_031921.4	NP_114127.3	Q5T9A4	ATD3B_HUMAN	ATPase family, AAA domain containing 3B	196						mitochondrial inner membrane (GO:0005743)	ATP binding (GO:0005524)			endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(2)|urinary_tract(1)	10	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		CCCGGGCGCGCGCCAAGGCCG	0.662																																						uc001afv.2		NA																	0					0						c.(586-588)CGC>CGT		AAA-ATPase  TOB3																																				SO:0001819	synonymous_variant	83858						ATP binding|nucleoside-triphosphatase activity	g.chr1:1417591C>T	AL834179	CCDS30.1	1p36.33	2010-04-21		2007-02-08	ENSG00000160072	ENSG00000160072		"""ATPases / AAA-type"""	24007	protein-coding gene	gene with protein product		612317				10574462	Standard	XM_005244806		Approved	TOB3, KIAA1273	uc001afv.3	Q5T9A4	OTTHUMG00000000577	ENST00000308647.7:c.588C>T	1.37:g.1417591C>T						ATAD3B_uc001afw.2_Silent_p.R150R|ATAD3B_uc001afx.2_Silent_p.R150R	p.R196R	NM_031921	NP_114127	Q5T9A4	ATD3B_HUMAN		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)	6	689	+	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)	196			Potential.		A8K3H1|Q6ZRB5|Q9BUK4|Q9ULE7	Silent	SNP	ENST00000308647.7	37	c.588C>T	CCDS30.1																																																																																				0.662	ATAD3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001369.2	NM_031921		22	21	0	0	0	0	22	21				
GNB1	2782	broad.mit.edu	37	1	1721851	1721851	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr1:1721851C>T	ENST00000378609.4	-	9	1013	c.682G>A	c.(682-684)Gac>Aac	p.D228N		NM_001282539.1|NM_002074.3	NP_001269468.1|NP_002065.1	P62873	GBB1_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 1	228					adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|blood coagulation (GO:0007596)|cellular response to catecholamine stimulus (GO:0071870)|cellular response to glucagon stimulus (GO:0071377)|cellular response to prostaglandin E stimulus (GO:0071380)|energy reserve metabolic process (GO:0006112)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|GTP catabolic process (GO:0006184)|phototransduction, visible light (GO:0007603)|platelet activation (GO:0030168)|Ras protein signal transduction (GO:0007265)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|intracellular (GO:0005622)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|photoreceptor disc membrane (GO:0097381)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	GTPase activity (GO:0003924)|GTPase binding (GO:0051020)|protein complex binding (GO:0032403)|signal transducer activity (GO:0004871)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	12	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.62e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;1.14e-35)|OV - Ovarian serous cystadenocarcinoma(86;7.31e-23)|GBM - Glioblastoma multiforme(42;3.1e-07)|COAD - Colon adenocarcinoma(227;0.000323)|Colorectal(212;0.000374)|Kidney(185;0.00392)|BRCA - Breast invasive adenocarcinoma(365;0.00573)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.0482)|Lung(427;0.236)		GCATTGATGTCAGACTCGTGG	0.532																																						uc001aif.2		NA																	0					0						c.(682-684)GAC>AAC		guanine nucleotide-binding protein, beta-1							84.0	76.0	79.0					1																	1721851		2203	4300	6503	SO:0001583	missense	2782				cellular response to glucagon stimulus|energy reserve metabolic process|muscarinic acetylcholine receptor signaling pathway|platelet activation|Ras protein signal transduction|synaptic transmission	heterotrimeric G-protein complex	GTPase activity|GTPase binding|signal transducer activity	g.chr1:1721851C>T	BC004186	CCDS34.1, CCDS72685.1	1p36.33	2013-01-10			ENSG00000078369	ENSG00000078369		"""WD repeat domain containing"""	4396	protein-coding gene	gene with protein product		139380					Standard	NM_002074		Approved		uc001aif.3	P62873	OTTHUMG00000000940	ENST00000378609.4:c.682G>A	1.37:g.1721851C>T	ENSP00000367872:p.Asp228Asn					GNB1_uc009vky.2_Missense_Mutation_p.D128N	p.D228N	NM_002074	NP_002065	P62873	GBB1_HUMAN		Epithelial(90;1.14e-35)|OV - Ovarian serous cystadenocarcinoma(86;7.31e-23)|GBM - Glioblastoma multiforme(42;3.1e-07)|COAD - Colon adenocarcinoma(227;0.000323)|Colorectal(212;0.000374)|Kidney(185;0.00392)|BRCA - Breast invasive adenocarcinoma(365;0.00573)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.0482)|Lung(427;0.236)	9	1014	-	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.62e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)	228			WD 5.		B1AJZ7|P04697|P04901|Q1RMY8	Missense_Mutation	SNP	ENST00000378609.4	37	c.682G>A	CCDS34.1	.	.	.	.	.	.	.	.	.	.	C	34	5.358617	0.95854	.	.	ENSG00000078369	ENST00000378609;ENST00000455156;ENST00000378606	T	0.60171	0.21	5.43	5.43	0.79202	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.67154	0.2863	L	0.43554	1.36	0.80722	D	1	D	0.60160	0.987	P	0.58820	0.846	T	0.68322	-0.5439	10	0.56958	D	0.05	-0.1355	18.2284	0.89926	0.0:1.0:0.0:0.0	.	228	P62873	GBB1_HUMAN	N	228;128;228	ENSP00000367872:D228N	ENSP00000367869:D228N	D	-	1	0	GNB1	1711711	1.000000	0.71417	0.972000	0.41901	0.841000	0.47740	7.586000	0.82596	2.538000	0.85594	0.655000	0.94253	GAC		0.532	GNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002762.3	NM_002074		6	93	0	0	0	0	6	93				
MEGF6	1953	broad.mit.edu	37	1	3427384	3427384	+	Silent	SNP	G	G	A	rs374339674	byFrequency	TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr1:3427384G>A	ENST00000356575.4	-	10	1423	c.1197C>T	c.(1195-1197)gcC>gcT	p.A399A	MEGF6_ENST00000294599.4_Silent_p.A294A	NM_001409.3	NP_001400.3	O75095	MEGF6_HUMAN	multiple EGF-like-domains 6	399	EGF-like 7. {ECO:0000255|PROSITE- ProRule:PRU00076}.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			cervix(2)|endometrium(3)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)		GCCGGTAGCCGGCGTAGCAGC	0.672													G|||	3	0.000599042	0.0023	0.0	5008	,	,		14409	0.0		0.0	False		,,,				2504	0.0				Ovarian(73;978 3658)	uc001akl.2		NA																	0				large_intestine(1)	1						c.(1195-1197)GCC>GCT		EGF-like-domain, multiple 3 precursor		G		5,4269		0,5,2132	32.0	42.0	39.0		1197	-6.6	1.0	1		39	1,8469		0,1,4234	no	coding-synonymous	MEGF6	NM_001409.3		0,6,6366	AA,AG,GG		0.0118,0.117,0.0471		399/1542	3427384	6,12738	2137	4235	6372	SO:0001819	synonymous_variant	1953					extracellular region	calcium ion binding	g.chr1:3427384G>A	AB011539	CCDS41237.1	1p36.3	2008-02-05	2006-03-31	2006-03-31	ENSG00000162591	ENSG00000162591			3232	protein-coding gene	gene with protein product		604266	"""EGF-like-domain, multiple 3"""	EGFL3		9693030	Standard	NM_001409		Approved		uc001akl.3	O75095	OTTHUMG00000000611	ENST00000356575.4:c.1197C>T	1.37:g.3427384G>A						MEGF6_uc001akk.2_Silent_p.A294A	p.A399A	NM_001409	NP_001400	O75095	MEGF6_HUMAN		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)	10	1424	-	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)	399			EGF-like 7.		Q4AC86|Q5VV39	Silent	SNP	ENST00000356575.4	37	c.1197C>T	CCDS41237.1																																																																																				0.672	MEGF6-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354866.1	NM_001409		30	41	0	0	0	0	30	41				
AADACL4	343066	broad.mit.edu	37	1	12726206	12726206	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr1:12726206C>G	ENST00000376221.1	+	4	684	c.684C>G	c.(682-684)ttC>ttG	p.F228L		NM_001013630.1	NP_001013652.1	Q5VUY2	ADCL4_HUMAN	arylacetamide deacetylase-like 4	228						integral component of membrane (GO:0016021)	carboxylic ester hydrolase activity (GO:0052689)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)	17	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000937)|all_lung(284;0.00122)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.81e-07)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0384)		TCCAGGCATTCTGTTTGCAGT	0.527																																						uc001auf.2		NA																	0					0						c.(682-684)TTC>TTG		arylacetamide deacetylase-like 4							141.0	142.0	142.0					1																	12726206		2203	4300	6503	SO:0001583	missense	343066					integral to membrane	carboxylesterase activity	g.chr1:12726206C>G		CCDS30590.1	1p36.21	2010-12-14			ENSG00000204518	ENSG00000204518			32038	protein-coding gene	gene with protein product							Standard	XM_006710608		Approved	OTTHUMG00000001889	uc001auf.3	Q5VUY2	OTTHUMG00000001889	ENST00000376221.1:c.684C>G	1.37:g.12726206C>G	ENSP00000365395:p.Phe228Leu						p.F228L	NM_001013630	NP_001013652	Q5VUY2	ADCL4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.81e-07)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0384)	4	684	+	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000937)|all_lung(284;0.00122)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)	228			Lumenal (Potential).			Missense_Mutation	SNP	ENST00000376221.1	37	c.684C>G	CCDS30590.1	.	.	.	.	.	.	.	.	.	.	C	0.192	-1.052113	0.01981	.	.	ENSG00000204518	ENST00000376221	T	0.10573	2.86	3.84	-1.95	0.07548	Alpha/beta hydrolase fold-3 (1);	0.845955	0.10620	N	0.653411	T	0.04272	0.0118	N	0.13371	0.34	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.44787	-0.9305	10	0.02654	T	1	-3.1495	6.3736	0.21495	0.0:0.2378:0.1609:0.6013	.	228	Q5VUY2	ADCL4_HUMAN	L	228	ENSP00000365395:F228L	ENSP00000365395:F228L	F	+	3	2	AADACL4	12648793	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.687000	0.01927	-0.257000	0.09459	-0.768000	0.03414	TTC		0.527	AADACL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005328.1	NM_001013630		102	177	0	0	0	0	102	177				
EPHA2	1969	broad.mit.edu	37	1	16461683	16461683	+	Splice_Site	SNP	C	C	G			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr1:16461683C>G	ENST00000358432.5	-	7	1584	c.1430G>C	c.(1429-1431)gGa>gCa	p.G477A		NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN	EPH receptor A2	477	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				activation of Rac GTPase activity (GO:0032863)|angiogenesis (GO:0001525)|axial mesoderm formation (GO:0048320)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|ephrin receptor signaling pathway (GO:0048013)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|keratinocyte differentiation (GO:0030216)|lens fiber cell morphogenesis (GO:0070309)|mammary gland epithelial cell proliferation (GO:0033598)|multicellular organismal development (GO:0007275)|negative regulation of protein kinase B signaling (GO:0051898)|neural tube development (GO:0021915)|neuron differentiation (GO:0030182)|notochord cell development (GO:0060035)|notochord formation (GO:0014028)|osteoblast differentiation (GO:0001649)|osteoclast differentiation (GO:0030316)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|post-anal tail morphogenesis (GO:0036342)|protein kinase B signaling (GO:0043491)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of lamellipodium assembly (GO:0010591)|response to growth factor (GO:0070848)|skeletal system development (GO:0001501)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell projection (GO:0042995)|cell surface (GO:0009986)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|leading edge membrane (GO:0031256)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)|Regorafenib(DB08896)	GTTGGAGTCTCCCTGTGGGTG	0.677																																						uc001aya.1		NA																	0				lung(3)|central_nervous_system(3)|stomach(2)|ovary(2)	10						c.(1429-1431)GGA>GCA		ephrin receptor EphA2 precursor	Dasatinib(DB01254)						95.0	91.0	92.0					1																	16461683		2203	4300	6503	SO:0001630	splice_region_variant	1969				activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus	focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane	ATP binding|ephrin receptor activity|protein binding	g.chr1:16461683C>G	BC037166	CCDS169.1	1p36	2013-02-11	2004-10-28		ENSG00000142627	ENSG00000142627	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3386	protein-coding gene	gene with protein product		176946	"""EphA2"""	ECK		9119409	Standard	NM_004431		Approved		uc001aya.2	P29317	OTTHUMG00000009527	ENST00000358432.5:c.1429-1G>C	1.37:g.16461683C>G							p.G477A	NM_004431	NP_004422	P29317	EPHA2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	7	1567	-		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)	477			Extracellular (Potential).|Fibronectin type-III 2.		B5A968|Q8N3Z2	Missense_Mutation	SNP	ENST00000358432.5	37	c.1430G>C	CCDS169.1	.	.	.	.	.	.	.	.	.	.	C	11.90	1.777092	0.31411	.	.	ENSG00000142627	ENST00000358432	T	0.59772	0.24	5.4	3.26	0.37387	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.677344	0.13574	N	0.377822	T	0.40423	0.1116	L	0.29908	0.895	0.40355	D	0.979177	B	0.15473	0.013	B	0.14578	0.011	T	0.51172	-0.8739	10	0.62326	D	0.03	.	3.3636	0.07196	0.2275:0.5866:0.0:0.1859	.	477	P29317	EPHA2_HUMAN	A	477	ENSP00000351209:G477A	ENSP00000351209:G477A	G	-	2	0	EPHA2	16334270	0.044000	0.20184	0.996000	0.52242	0.341000	0.28922	0.340000	0.19892	2.539000	0.85634	0.655000	0.94253	GGA		0.677	EPHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026322.1	NM_004431	Missense_Mutation	66	144	0	0	0	0	66	144				
EPHA2	1969	broad.mit.edu	37	1	16464404	16464404	+	Nonsense_Mutation	SNP	G	G	C			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr1:16464404G>C	ENST00000358432.5	-	5	1410	c.1256C>G	c.(1255-1257)tCa>tGa	p.S419*		NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN	EPH receptor A2	419	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				activation of Rac GTPase activity (GO:0032863)|angiogenesis (GO:0001525)|axial mesoderm formation (GO:0048320)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|ephrin receptor signaling pathway (GO:0048013)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|keratinocyte differentiation (GO:0030216)|lens fiber cell morphogenesis (GO:0070309)|mammary gland epithelial cell proliferation (GO:0033598)|multicellular organismal development (GO:0007275)|negative regulation of protein kinase B signaling (GO:0051898)|neural tube development (GO:0021915)|neuron differentiation (GO:0030182)|notochord cell development (GO:0060035)|notochord formation (GO:0014028)|osteoblast differentiation (GO:0001649)|osteoclast differentiation (GO:0030316)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|post-anal tail morphogenesis (GO:0036342)|protein kinase B signaling (GO:0043491)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of lamellipodium assembly (GO:0010591)|response to growth factor (GO:0070848)|skeletal system development (GO:0001501)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell projection (GO:0042995)|cell surface (GO:0009986)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|leading edge membrane (GO:0031256)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)|Regorafenib(DB08896)	TACCAGGCCTGAGACGCCATT	0.637																																						uc001aya.1		NA																	0				lung(3)|central_nervous_system(3)|stomach(2)|ovary(2)	10						c.(1255-1257)TCA>TGA		ephrin receptor EphA2 precursor	Dasatinib(DB01254)						54.0	55.0	55.0					1																	16464404		2203	4300	6503	SO:0001587	stop_gained	1969				activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus	focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane	ATP binding|ephrin receptor activity|protein binding	g.chr1:16464404G>C	BC037166	CCDS169.1	1p36	2013-02-11	2004-10-28		ENSG00000142627	ENSG00000142627	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3386	protein-coding gene	gene with protein product		176946	"""EphA2"""	ECK		9119409	Standard	NM_004431		Approved		uc001aya.2	P29317	OTTHUMG00000009527	ENST00000358432.5:c.1256C>G	1.37:g.16464404G>C	ENSP00000351209:p.Ser419*					EPHA2_uc010oca.1_Nonsense_Mutation_p.S419*	p.S419*	NM_004431	NP_004422	P29317	EPHA2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	5	1393	-		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)	419			Extracellular (Potential).|Fibronectin type-III 1.		B5A968|Q8N3Z2	Nonsense_Mutation	SNP	ENST00000358432.5	37	c.1256C>G	CCDS169.1	.	.	.	.	.	.	.	.	.	.	G	37	6.427317	0.97559	.	.	ENSG00000142627	ENST00000358432	.	.	.	4.97	4.97	0.65823	.	0.139643	0.32703	N	0.005759	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	16.1088	0.81244	0.0:0.0:1.0:0.0	.	.	.	.	X	419	.	ENSP00000351209:S419X	S	-	2	0	EPHA2	16336991	1.000000	0.71417	0.996000	0.52242	0.536000	0.34869	9.869000	0.99810	2.488000	0.83962	0.561000	0.74099	TCA		0.637	EPHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026322.1	NM_004431		17	79	0	0	0	0	17	79				
EPHA2	1969	broad.mit.edu	37	1	16475323	16475323	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr1:16475323C>T	ENST00000358432.5	-	3	527	c.373G>A	c.(373-375)Gag>Aag	p.E125K	EPHA2_ENST00000461614.1_5'UTR	NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN	EPH receptor A2	125	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.|Mediates interaction with CLDN4.				activation of Rac GTPase activity (GO:0032863)|angiogenesis (GO:0001525)|axial mesoderm formation (GO:0048320)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|ephrin receptor signaling pathway (GO:0048013)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|keratinocyte differentiation (GO:0030216)|lens fiber cell morphogenesis (GO:0070309)|mammary gland epithelial cell proliferation (GO:0033598)|multicellular organismal development (GO:0007275)|negative regulation of protein kinase B signaling (GO:0051898)|neural tube development (GO:0021915)|neuron differentiation (GO:0030182)|notochord cell development (GO:0060035)|notochord formation (GO:0014028)|osteoblast differentiation (GO:0001649)|osteoclast differentiation (GO:0030316)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|post-anal tail morphogenesis (GO:0036342)|protein kinase B signaling (GO:0043491)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of lamellipodium assembly (GO:0010591)|response to growth factor (GO:0070848)|skeletal system development (GO:0001501)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell projection (GO:0042995)|cell surface (GO:0009986)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|leading edge membrane (GO:0031256)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)|Regorafenib(DB08896)	AGGTCCGACTCGGCATAGTAG	0.547																																						uc001aya.1		NA																	0				lung(3)|central_nervous_system(3)|stomach(2)|ovary(2)	10						c.(373-375)GAG>AAG		ephrin receptor EphA2 precursor	Dasatinib(DB01254)						95.0	79.0	85.0					1																	16475323		2203	4300	6503	SO:0001583	missense	1969				activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus	focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane	ATP binding|ephrin receptor activity|protein binding	g.chr1:16475323C>T	BC037166	CCDS169.1	1p36	2013-02-11	2004-10-28		ENSG00000142627	ENSG00000142627	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3386	protein-coding gene	gene with protein product		176946	"""EphA2"""	ECK		9119409	Standard	NM_004431		Approved		uc001aya.2	P29317	OTTHUMG00000009527	ENST00000358432.5:c.373G>A	1.37:g.16475323C>T	ENSP00000351209:p.Glu125Lys					EPHA2_uc010oca.1_Missense_Mutation_p.E125K	p.E125K	NM_004431	NP_004422	P29317	EPHA2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	3	510	-		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)	125			Extracellular (Potential).		B5A968|Q8N3Z2	Missense_Mutation	SNP	ENST00000358432.5	37	c.373G>A	CCDS169.1	.	.	.	.	.	.	.	.	.	.	C	35	5.417951	0.96092	.	.	ENSG00000142627	ENST00000358432	T	0.11169	2.8	5.35	5.35	0.76521	Ephrin receptor, ligand binding (2);Galactose-binding domain-like (1);	0.000000	0.56097	D	0.000026	T	0.42988	0.1227	M	0.91768	3.24	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.997	T	0.53613	-0.8414	10	0.87932	D	0	.	16.5455	0.84444	0.0:1.0:0.0:0.0	.	125;125	B5A968;P29317	.;EPHA2_HUMAN	K	125	ENSP00000351209:E125K	ENSP00000351209:E125K	E	-	1	0	EPHA2	16347910	1.000000	0.71417	0.995000	0.50966	0.991000	0.79684	7.814000	0.86154	2.503000	0.84419	0.561000	0.74099	GAG		0.547	EPHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026322.1	NM_004431		31	60	0	0	0	0	31	60				
CROCC	9696	broad.mit.edu	37	1	17264170	17264170	+	Missense_Mutation	SNP	G	G	C	rs141704732	byFrequency	TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr1:17264170G>C	ENST00000375541.5	+	10	1297	c.1228G>C	c.(1228-1230)Gag>Cag	p.E410Q	CROCC_ENST00000467938.1_3'UTR	NM_014675.3	NP_055490.3			ciliary rootlet coiled-coil, rootletin											breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		GAAGCGTCTTGAGAAGCAGAA	0.572													c|||	2	0.000399361	0.0008	0.0014	5008	,	,		28638	0.0		0.0	False		,,,				2504	0.0					uc001azt.2		NA																	0				ovary(2)|breast(2)|central_nervous_system(1)	5						c.(1228-1230)GAG>CAG		ciliary rootlet coiled-coil							50.0	39.0	43.0					1																	17264170		2203	4300	6503	SO:0001583	missense	9696				cell cycle|cell projection organization|centrosome organization|protein localization	actin cytoskeleton|centriole|ciliary rootlet|plasma membrane	kinesin binding|structural molecule activity	g.chr1:17264170G>C	AB007914	CCDS30616.1	1p36.13	2010-06-04	2009-03-04	2009-03-04	ENSG00000058453	ENSG00000058453			21299	protein-coding gene	gene with protein product	"""rootletin, ciliary rootlet protein"""	615776				12427867, 17971504	Standard	XM_006711056		Approved	rootletin, ROLT	uc001azt.2	Q5TZA2	OTTHUMG00000002200	ENST00000375541.5:c.1228G>C	1.37:g.17264170G>C	ENSP00000364691:p.Glu410Gln					CROCC_uc009voy.1_Missense_Mutation_p.E113Q|CROCC_uc009voz.1_Missense_Mutation_p.E173Q|CROCC_uc001azu.2_5'Flank	p.E410Q	NM_014675	NP_055490	Q5TZA2	CROCC_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)	10	1297	+		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)	410			Potential.			Missense_Mutation	SNP	ENST00000375541.5	37	c.1228G>C	CCDS30616.1	.	.	.	.	.	.	.	.	.	.	C	6.035	0.374806	0.11409	.	.	ENSG00000058453	ENST00000375541;ENST00000445545	T	0.07800	3.16	4.11	4.11	0.48088	.	.	.	.	.	T	0.01835	0.0058	N	0.00186	-1.895	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	0.34950	-0.9808	9	0.02654	T	1	.	11.4042	0.49887	0.0:0.8165:0.1835:0.0	.	273;273;410	A1L0S8;A1L0S9;Q5TZA2	.;.;CROCC_HUMAN	Q	410;291	ENSP00000364691:E410Q	ENSP00000364691:E410Q	E	+	1	0	CROCC	17136757	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	1.288000	0.33296	1.097000	0.41459	-0.216000	0.12614	GAG		0.572	CROCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006249.2	NM_014675		6	18	0	0	0	0	6	18				
ARHGEF10L	55160	broad.mit.edu	37	1	18023375	18023375	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr1:18023375G>A	ENST00000361221.3	+	29	3499	c.3340G>A	c.(3340-3342)Ggg>Agg	p.G1114R	ARHGEF10L_ENST00000452522.1_Missense_Mutation_p.G1075R|ARHGEF10L_ENST00000375415.1_Missense_Mutation_p.G1075R|ARHGEF10L_ENST00000375408.3_Missense_Mutation_p.G887R|ARHGEF10L_ENST00000469726.1_3'UTR|ARHGEF10L_ENST00000167825.4_Missense_Mutation_p.G817R	NM_018125.3	NP_060595	Q9HCE6	ARGAL_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10-like	1114						cytoplasm (GO:0005737)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)		CGGGCACTGTGGGCCTGTGGC	0.627											OREG0013156	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001ban.2		NA																	0				large_intestine(1)|ovary(1)|pancreas(1)	3						c.(3340-3342)GGG>AGG		Rho guanine nucleotide exchange factor (GEF)							41.0	39.0	40.0					1																	18023375		2202	4300	6502	SO:0001583	missense	55160				regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity	g.chr1:18023375G>A	AB046846	CCDS182.1, CCDS30617.1	1p36.13	2011-11-16			ENSG00000074964	ENSG00000074964		"""Rho guanine nucleotide exchange factors"""	25540	protein-coding gene	gene with protein product	"""GrinchGEF"""	612494				10997877, 16112081	Standard	XM_005245923		Approved	FLJ10521, KIAA1626	uc001ban.3	Q9HCE6	OTTHUMG00000002514	ENST00000361221.3:c.3340G>A	1.37:g.18023375G>A	ENSP00000355060:p.Gly1114Arg		OREG0013156	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	722	ARHGEF10L_uc001bao.2_Missense_Mutation_p.G1075R|ARHGEF10L_uc001bap.2_Missense_Mutation_p.G1070R|ARHGEF10L_uc001baq.2_Missense_Mutation_p.G875R|ARHGEF10L_uc010ocs.1_Missense_Mutation_p.G887R|ARHGEF10L_uc001bar.2_Missense_Mutation_p.G817R|ARHGEF10L_uc009vpf.2_RNA|ARHGEF10L_uc001bas.2_Missense_Mutation_p.G138R	p.G1114R	NM_018125	NP_060595	Q9HCE6	ARGAL_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)	29	3499	+		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)	1114					B7ZKS1|Q17RW1|Q3YFJ4|Q5VXI5|Q5VXI6|Q66K51|Q6P0L7|Q8NAV5|Q9NVT3	Missense_Mutation	SNP	ENST00000361221.3	37	c.3340G>A	CCDS182.1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.706821	0.89018	.	.	ENSG00000074964	ENST00000361221;ENST00000452522;ENST00000375415;ENST00000375408;ENST00000457829;ENST00000167825	T;T;T;T;T	0.38887	1.11;1.11;1.11;1.11;1.11	4.97	4.97	0.65823	WD40 repeat-like-containing domain (1);	0.061993	0.64402	D	0.000005	T	0.66470	0.2792	M	0.77313	2.365	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	0.997;0.999;0.991;0.997;0.999;1.0;1.0	T	0.71695	-0.4515	10	0.87932	D	0	-25.9352	16.7825	0.85566	0.0:0.0:1.0:0.0	.	887;887;817;875;1070;1075;1114	Q5VXI4;B4DTL3;Q9HCE6-4;B3KX74;Q9HCE6-3;Q9HCE6-2;Q9HCE6	.;.;.;.;.;.;ARGAL_HUMAN	R	1114;1075;1075;887;887;817	ENSP00000355060:G1114R;ENSP00000399401:G1075R;ENSP00000364564:G1075R;ENSP00000364557:G887R;ENSP00000167825:G817R	ENSP00000167825:G817R	G	+	1	0	ARHGEF10L	17895962	1.000000	0.71417	0.998000	0.56505	0.991000	0.79684	9.374000	0.97172	2.305000	0.77605	0.561000	0.74099	GGG		0.627	ARHGEF10L-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000007147.1	NM_018125		10	32	0	0	0	0	10	32				
UBR4	23352	broad.mit.edu	37	1	19407997	19407997	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr1:19407997C>G	ENST00000375254.3	-	103	15106	c.15079G>C	c.(15079-15081)Gag>Cag	p.E5027Q	UBR4_ENST00000375226.2_Missense_Mutation_p.E5003Q|UBR4_ENST00000375267.2_Missense_Mutation_p.E5027Q|AL137127.1_ENST00000582644.1_RNA|UBR4_ENST00000375217.2_Missense_Mutation_p.E5020Q|UBR4_ENST00000429347.2_Missense_Mutation_p.E550Q|UBR4_ENST00000375224.1_Missense_Mutation_p.E734Q|UBR4_ENST00000375225.3_Missense_Mutation_p.E102Q|UBR4_ENST00000543981.1_Missense_Mutation_p.E691Q	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	5027					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		AAGGCACTCTCCACCCACTTC	0.517																																						uc001bbi.2		NA																	0				kidney(10)|ovary(7)|breast(4)|pancreas(2)|skin(2)	25						c.(15079-15081)GAG>CAG		retinoblastoma-associated factor 600							177.0	182.0	180.0					1																	19407997		2203	4300	6503	SO:0001583	missense	23352				interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:19407997C>G	AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"""Ubiquitin protein ligase E3 component n-recognins"""	30313	protein-coding gene	gene with protein product		609890	"""zinc finger, UBR1 type 1"""	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.15079G>C	1.37:g.19407997C>G	ENSP00000364403:p.Glu5027Gln					UBR4_uc001bbf.2_5'UTR|UBR4_uc010ocv.1_Missense_Mutation_p.E550Q|UBR4_uc009vph.2_Missense_Mutation_p.E661Q|UBR4_uc010ocw.1_Missense_Mutation_p.E691Q|UBR4_uc001bbg.2_Missense_Mutation_p.E738Q|UBR4_uc001bbh.2_Missense_Mutation_p.E736Q	p.E5027Q	NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)	103	15083	-		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)	5027					A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Missense_Mutation	SNP	ENST00000375254.3	37	c.15079G>C	CCDS189.1	.	.	.	.	.	.	.	.	.	.	C	27.8	4.867884	0.91587	.	.	ENSG00000127481	ENST00000375254;ENST00000375267;ENST00000375217;ENST00000375226;ENST00000375225;ENST00000375224;ENST00000429347;ENST00000543981	T;T;T;T;T;T;T;T	0.32988	1.43;1.43;1.43;1.43;1.43;1.43;1.43;1.43	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	T	0.55529	0.1926	M	0.65975	2.015	0.80722	D	1	D;D;D;D	0.62365	0.991;0.991;0.991;0.989	D;D;D;D	0.74023	0.982;0.982;0.982;0.969	T	0.56523	-0.7965	10	0.72032	D	0.01	.	18.0747	0.89423	0.0:1.0:0.0:0.0	.	691;550;5027;5003	B4DYV5;B4DPF6;Q5T4S7;Q5T4S7-3	.;.;UBR4_HUMAN;.	Q	5027;5027;5020;5003;102;734;550;691	ENSP00000364403:E5027Q;ENSP00000364416:E5027Q;ENSP00000364365:E5020Q;ENSP00000364374:E5003Q;ENSP00000364373:E102Q;ENSP00000364372:E734Q;ENSP00000394173:E550Q;ENSP00000444070:E691Q	ENSP00000364365:E5020Q	E	-	1	0	UBR4	19280584	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.399000	0.79935	2.687000	0.91594	0.462000	0.41574	GAG		0.517	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007085.1	NM_020765		92	195	0	0	0	0	92	195				
UBR4	23352	broad.mit.edu	37	1	19446699	19446699	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr1:19446699G>A	ENST00000375254.3	-	69	10312	c.10285C>T	c.(10285-10287)Cac>Tac	p.H3429Y	UBR4_ENST00000375226.2_Missense_Mutation_p.H3405Y|UBR4_ENST00000375267.2_Missense_Mutation_p.H3429Y|UBR4_ENST00000375217.2_Missense_Mutation_p.H3422Y|UBR4_ENST00000375218.3_5'Flank	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	3429					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		GTCAGACAGTGGGCCTGCCAG	0.512																																						uc001bbi.2		NA																	0				kidney(10)|ovary(7)|breast(4)|pancreas(2)|skin(2)	25						c.(10285-10287)CAC>TAC		retinoblastoma-associated factor 600							108.0	94.0	99.0					1																	19446699		2203	4300	6503	SO:0001583	missense	23352				interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:19446699G>A	AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"""Ubiquitin protein ligase E3 component n-recognins"""	30313	protein-coding gene	gene with protein product		609890	"""zinc finger, UBR1 type 1"""	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.10285C>T	1.37:g.19446699G>A	ENSP00000364403:p.His3429Tyr					UBR4_uc001bbj.1_5'Flank	p.H3429Y	NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)	69	10289	-		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)	3429					A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Missense_Mutation	SNP	ENST00000375254.3	37	c.10285C>T	CCDS189.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.017501	0.75161	.	.	ENSG00000127481	ENST00000375254;ENST00000375267;ENST00000375217;ENST00000375226	T;T;T;T	0.64085	-0.08;-0.08;-0.08;-0.08	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.77377	0.4121	M	0.71206	2.165	0.80722	D	1	P	0.45126	0.851	P	0.58391	0.838	T	0.77854	-0.2433	10	0.87932	D	0	.	18.4558	0.90720	0.0:0.0:1.0:0.0	.	3429	Q5T4S7	UBR4_HUMAN	Y	3429;3429;3422;3405	ENSP00000364403:H3429Y;ENSP00000364416:H3429Y;ENSP00000364365:H3422Y;ENSP00000364374:H3405Y	ENSP00000364365:H3422Y	H	-	1	0	UBR4	19319286	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	9.263000	0.95617	2.941000	0.99782	0.655000	0.94253	CAC		0.512	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007085.1	NM_020765		13	108	0	0	0	0	13	108				
NUDC	10726	broad.mit.edu	37	1	27272172	27272172	+	Silent	SNP	G	G	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr1:27272172G>A	ENST00000321265.5	+	8	1062	c.939G>A	c.(937-939)ctG>ctA	p.L313L	NUDC_ENST00000484772.1_3'UTR	NM_006600.3	NP_006591.1	Q9Y266	NUDC_HUMAN	nudC nuclear distribution protein	313					cell proliferation (GO:0008283)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|multicellular organismal development (GO:0007275)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule (GO:0005874)|nucleoplasm (GO:0005654)				cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|ovary(1)	8				UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;6.1e-51)|OV - Ovarian serous cystadenocarcinoma(117;2.87e-29)|Colorectal(126;5.74e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000281)|STAD - Stomach adenocarcinoma(196;0.000604)|KIRC - Kidney renal clear cell carcinoma(1967;0.000739)|READ - Rectum adenocarcinoma(331;0.0421)		AGGAGATTCTGAAGAAGTGAG	0.547																																						uc001bng.1		NA																	0				ovary(1)	1						c.(937-939)CTG>CTA		nuclear distribution gene C homolog							83.0	85.0	84.0					1																	27272172		2203	4300	6503	SO:0001819	synonymous_variant	10726				cell proliferation|cytokinesis|mitotic prometaphase|multicellular organismal development	cytosol|microtubule|nucleoplasm	protein binding	g.chr1:27272172G>A		CCDS292.1	1p35-p34	2013-08-06	2013-08-06		ENSG00000090273	ENSG00000090273			8045	protein-coding gene	gene with protein product		610325	"""nuclear distribution gene C homolog (A. nidulans)"", ""nuclear distribution C homolog (A. nidulans)"""				Standard	NM_006600		Approved	NudC	uc001bng.2	Q9Y266	OTTHUMG00000004226	ENST00000321265.5:c.939G>A	1.37:g.27272172G>A						NUDC_uc001bnh.1_Silent_p.L370L|NUDC_uc009vsq.1_Silent_p.L287L	p.L313L	NM_006600	NP_006591	Q9Y266	NUDC_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;6.1e-51)|OV - Ovarian serous cystadenocarcinoma(117;2.87e-29)|Colorectal(126;5.74e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000281)|STAD - Stomach adenocarcinoma(196;0.000604)|KIRC - Kidney renal clear cell carcinoma(1967;0.000739)|READ - Rectum adenocarcinoma(331;0.0421)	8	1055	+			313					Q5QP31|Q5QP35|Q9H0N2|Q9Y2B6	Silent	SNP	ENST00000321265.5	37	c.939G>A	CCDS292.1																																																																																				0.547	NUDC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012172.2			8	124	0	0	0	0	8	124				
AHDC1	27245	broad.mit.edu	37	1	27877465	27877465	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr1:27877465C>T	ENST00000247087.5	-	5	1758	c.1162G>A	c.(1162-1164)Gat>Aat	p.D388N	AHDC1_ENST00000374011.2_Missense_Mutation_p.D388N			Q5TGY3	AHDC1_HUMAN	AT hook, DNA binding motif, containing 1	388	Pro-rich.						DNA binding (GO:0003677)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)		TTTGGCCTATCAGTGCGCCGC	0.716																																						uc009vsy.2		NA																	0				central_nervous_system(1)	1						c.(1162-1164)GAT>AAT		AT hook, DNA binding motif, containing 1							8.0	9.0	8.0					1																	27877465		2090	4081	6171	SO:0001583	missense	27245						DNA binding	g.chr1:27877465C>T	AK125431	CCDS30652.1	1p36.13	2008-02-05			ENSG00000126705	ENSG00000126705			25230	protein-coding gene	gene with protein product		615790				8619474, 9110174	Standard	XM_005245848		Approved	DJ159A19.3, RP1-159A19.1	uc009vsy.3	Q5TGY3	OTTHUMG00000003398	ENST00000247087.5:c.1162G>A	1.37:g.27877465C>T	ENSP00000247087:p.Asp388Asn					AHDC1_uc009vsz.1_Missense_Mutation_p.D388N|AHDC1_uc001boh.1_Missense_Mutation_p.D261N	p.D388N	NM_001029882	NP_001025053	Q5TGY3	AHDC1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)	6	2131	-		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	388			Pro-rich.		Q5TGY4|Q6PJK1|Q6ZUQ6|Q99769|Q9NUF5	Missense_Mutation	SNP	ENST00000247087.5	37	c.1162G>A	CCDS30652.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.587024	0.86851	.	.	ENSG00000126705	ENST00000247087;ENST00000374011	T;T	0.51574	0.7;0.7	5.58	5.58	0.84498	.	0.314363	0.22449	U	0.059908	T	0.34221	0.0890	N	0.14661	0.345	0.39350	D	0.965739	P	0.46512	0.879	B	0.40375	0.327	T	0.31916	-0.9926	10	0.48119	T	0.1	-8.9304	16.4697	0.84109	0.0:1.0:0.0:0.0	.	388	Q5TGY3	AHDC1_HUMAN	N	388	ENSP00000247087:D388N;ENSP00000363123:D388N	ENSP00000247087:D388N	D	-	1	0	AHDC1	27750052	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	4.940000	0.63533	2.630000	0.89119	0.591000	0.81541	GAT		0.716	AHDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009523.3			6	15	0	0	0	0	6	15				
THEMIS2	9473	broad.mit.edu	37	1	28211959	28211959	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr1:28211959C>G	ENST00000373921.3	+	5	1877	c.1873C>G	c.(1873-1875)Cta>Gta	p.L625V	THEMIS2_ENST00000373927.3_3'UTR|THEMIS2_ENST00000328928.7_Missense_Mutation_p.L496V|THEMIS2_ENST00000373925.1_3'UTR|THEMIS2_ENST00000492877.1_3'UTR	NM_001105556.1	NP_001099026.1	Q5TEJ8	THMS2_HUMAN	thymocyte selection associated family member 2	625					cell adhesion (GO:0007155)|inflammatory response (GO:0006954)|T cell receptor signaling pathway (GO:0050852)	cytoplasm (GO:0005737)|nucleus (GO:0005634)											AAGGCAGGATCTAGGTGAGTC	0.597																																						uc001bpc.3		NA																	0				ovary(1)	1						c.(1873-1875)CTA>GTA		basement membrane-induced gene isoform 3							45.0	42.0	43.0					1																	28211959		2203	4300	6503	SO:0001583	missense	9473				cell adhesion|inflammatory response			g.chr1:28211959C>G	AF044896	CCDS30653.1, CCDS30654.1, CCDS41290.1, CCDS65461.1	1p35.2	2012-07-10	2012-07-10	2012-07-10	ENSG00000130775	ENSG00000130775			16839	protein-coding gene	gene with protein product	"""induced by contact to basement membrane 1"""		"""chromosome 1 open reading frame 38"""	C1orf38		16219472	Standard	XM_005246041		Approved	ICB-1, Icb-1	uc001bpc.4	Q5TEJ8	OTTHUMG00000003735	ENST00000373921.3:c.1873C>G	1.37:g.28211959C>G	ENSP00000363031:p.Leu625Val					C1orf38_uc001boz.2_3'UTR|C1orf38_uc001bpa.2_3'UTR|C1orf38_uc010ofn.1_Missense_Mutation_p.L429V|C1orf38_uc010ofo.1_Missense_Mutation_p.L496V	p.L625V	NM_001105556	NP_001099026	Q5TEJ8	THMS2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;2.52e-24)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00244)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0649)	5	1901	+		Colorectal(325;3.46e-05)|all_lung(284;0.000129)|Lung NSC(340;0.000259)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)	625					A2RTZ3|B4DZT9|B4DZY3|O60560|Q5TEJ1|Q5TEJ9|Q5TEK1|Q68DP4|Q9BYB6|Q9NS90	Missense_Mutation	SNP	ENST00000373921.3	37	c.1873C>G	CCDS41290.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	2.479|2.479	-0.320045|-0.320045	0.05386|0.05386	.|.	.|.	ENSG00000130775|ENSG00000130775	ENST00000456990|ENST00000328928;ENST00000373921	.|T;T	.|0.21932	.|1.98;1.98	3.66|3.66	-7.32|-7.32	0.01436|0.01436	.|.	.|2.668540	.|0.01049	.|N	.|0.004421	T|T	0.11879|0.11879	0.0289|0.0289	N|N	0.22421|0.22421	0.69|0.69	0.09310|0.09310	N|N	1|1	.|B;B;B	.|0.13145	.|0.007;0.0;0.0	.|B;B;B	.|0.17433	.|0.018;0.0;0.0	T|T	0.14924|0.14924	-1.0455|-1.0455	5|10	.|0.52906	.|T	.|0.07	28.6763|28.6763	1.0172|1.0172	0.01510|0.01510	0.3376:0.0939:0.2526:0.3159|0.3376:0.0939:0.2526:0.3159	.|.	.|496;429;625	.|Q5TEJ8-5;Q5TEJ8-6;Q5TEJ8	.|.;.;THMS2_HUMAN	M|V	372|496;625	.|ENSP00000329862:L496V;ENSP00000363031:L625V	.|ENSP00000329862:L496V	I|L	+|+	3|1	3|2	C1orf38|C1orf38	28084546|28084546	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.000000|0.000000	0.00434|0.00434	-3.148000|-3.148000	0.00583|0.00583	-3.964000|-3.964000	0.00086|0.00086	-1.108000|-1.108000	0.02087|0.02087	ATC|CTA		0.597	THEMIS2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011148.1	NM_004848		11	29	0	0	0	0	11	29				
BSDC1	55108	broad.mit.edu	37	1	32841914	32841914	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr1:32841914C>G	ENST00000455895.2	-	9	1138	c.1105G>C	c.(1105-1107)Gag>Cag	p.E369Q	BSDC1_ENST00000419121.2_Missense_Mutation_p.E313Q|BSDC1_ENST00000446293.2_Missense_Mutation_p.E386Q|BSDC1_ENST00000413080.1_Missense_Mutation_p.E308Q|BSDC1_ENST00000526031.1_Missense_Mutation_p.E274Q|BSDC1_ENST00000341071.7_Missense_Mutation_p.E386Q|BSDC1_ENST00000463967.1_5'Flank|BSDC1_ENST00000449308.1_Missense_Mutation_p.E369Q	NM_001143888.1|NM_018045.6	NP_001137360.1|NP_060515.3	Q9NW68	BSDC1_HUMAN	BSD domain containing 1	369										breast(1)|central_nervous_system(2)|kidney(1)|lung(6)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	17		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				GAGTTCAGCTCAAACACCCGT	0.617																																						uc001bvh.3		NA																	0				upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	3						c.(1105-1107)GAG>CAG		BSD domain containing 1 isoform b							90.0	96.0	94.0					1																	32841914		2203	4300	6503	SO:0001583	missense	55108						protein binding	g.chr1:32841914C>G	BX641056	CCDS363.2, CCDS44101.1, CCDS44102.1, CCDS44103.1, CCDS72752.1	1p35.1	2008-02-05			ENSG00000160058	ENSG00000160058			25501	protein-coding gene	gene with protein product						12477932	Standard	XM_005270985		Approved	FLJ10276, RP4-811H24.7	uc010ohg.2	Q9NW68	OTTHUMG00000007588	ENST00000455895.2:c.1105G>C	1.37:g.32841914C>G	ENSP00000412173:p.Glu369Gln					BSDC1_uc010ohg.1_Missense_Mutation_p.E386Q|BSDC1_uc010ohh.1_Missense_Mutation_p.E313Q|BSDC1_uc010ohi.1_Missense_Mutation_p.E274Q|BSDC1_uc001bvg.3_RNA|BSDC1_uc001bvj.2_Missense_Mutation_p.E265Q|BSDC1_uc001bvi.2_Missense_Mutation_p.E386Q	p.E369Q	NM_018045	NP_060515	Q9NW68	BSDC1_HUMAN			9	1152	-		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)	369					B4DMS7|B4DTI7|B4DTP7|B4E2X8|Q49AT8|Q68DY6|Q6IAA3|Q6MZK1|Q6UXS1|Q9HAL9	Missense_Mutation	SNP	ENST00000455895.2	37	c.1105G>C	CCDS363.2	.	.	.	.	.	.	.	.	.	.	C	26.7	4.758305	0.89843	.	.	ENSG00000160058	ENST00000455895;ENST00000413080;ENST00000341071;ENST00000526031;ENST00000419121;ENST00000446293;ENST00000449308	.	.	.	4.6	4.6	0.57074	.	0.000000	0.85682	D	0.000000	T	0.77164	0.4090	M	0.63843	1.955	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.999;0.999;0.999;0.999;0.998	T	0.79761	-0.1667	9	0.72032	D	0.01	-20.1999	17.2978	0.87173	0.0:1.0:0.0:0.0	.	274;313;386;386;369	Q9NW68-9;Q9NW68-8;Q9NW68-7;Q9NW68-3;Q9NW68	.;.;.;.;BSDC1_HUMAN	Q	369;308;386;274;313;386;369	.	ENSP00000344816:E386Q	E	-	1	0	BSDC1	32614501	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.720000	0.84759	2.487000	0.83934	0.462000	0.41574	GAG		0.617	BSDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020056.3	NM_018045		47	121	0	0	0	0	47	121				
KIAA1522	57648	broad.mit.edu	37	1	33234274	33234274	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr1:33234274G>A	ENST00000373480.1	+	4	410	c.307G>A	c.(307-309)Gaa>Aaa	p.E103K	KIAA1522_ENST00000373481.3_Missense_Mutation_p.E114K|KIAA1522_ENST00000401073.2_Missense_Mutation_p.E162K|KIAA1522_ENST00000294521.3_Missense_Mutation_p.E103K	NM_001198972.1	NP_001185901.1	Q9P206	K1522_HUMAN	KIAA1522	103										breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				GGGGCCGGATGAAGACAACAT	0.562																																						uc001bvv.2		NA																	0					0						c.(307-309)GAA>AAA		hypothetical protein LOC57648							50.0	51.0	51.0					1																	33234274		2001	4155	6156	SO:0001583	missense	57648							g.chr1:33234274G>A	AL713671	CCDS41298.1, CCDS55588.1, CCDS55589.1	1p35.1	2009-02-18			ENSG00000162522	ENSG00000162522			29301	protein-coding gene	gene with protein product						10819331	Standard	NM_020888		Approved		uc001bvu.1	Q9P206	OTTHUMG00000008088	ENST00000373480.1:c.307G>A	1.37:g.33234274G>A	ENSP00000362579:p.Glu103Lys					KIAA1522_uc001bvu.1_Missense_Mutation_p.E162K|KIAA1522_uc010ohm.1_Missense_Mutation_p.E114K|KIAA1522_uc010ohn.1_Missense_Mutation_p.E103K	p.E103K	NM_020888	NP_065939	Q9P206	K1522_HUMAN			4	443	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)	103					B4DQU8|B5MDY0|C9JH84|Q8TCQ0	Missense_Mutation	SNP	ENST00000373480.1	37	c.307G>A	CCDS55588.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.079539	0.76528	.	.	ENSG00000162522	ENST00000401073;ENST00000373481;ENST00000294521;ENST00000373480	T;T;T;T	0.35973	2.56;2.57;1.28;2.58	4.94	4.94	0.65067	.	0.386761	0.24825	N	0.035296	T	0.41328	0.1154	L	0.42245	1.32	0.42012	D	0.990942	P;P;B;P	0.46220	0.59;0.874;0.275;0.874	B;P;B;P	0.47402	0.187;0.546;0.128;0.465	T	0.36625	-0.9740	10	0.59425	D	0.04	-2.7843	16.7259	0.85421	0.0:0.0:1.0:0.0	.	103;114;103;162	B4DQU8;Q9P206-3;Q9P206;Q9P206-2	.;.;K1522_HUMAN;.	K	162;114;103;103	ENSP00000383851:E162K;ENSP00000362580:E114K;ENSP00000294521:E103K;ENSP00000362579:E103K	ENSP00000294521:E103K	E	+	1	0	KIAA1522	33006861	1.000000	0.71417	1.000000	0.80357	0.847000	0.48162	5.821000	0.69257	2.470000	0.83445	0.561000	0.74099	GAA		0.562	KIAA1522-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000022130.1			11	49	0	0	0	0	11	49				
KIAA1522	57648	broad.mit.edu	37	1	33234319	33234319	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr1:33234319G>C	ENST00000373480.1	+	4	455	c.352G>C	c.(352-354)Gag>Cag	p.E118Q	KIAA1522_ENST00000373481.3_Missense_Mutation_p.E129Q|KIAA1522_ENST00000401073.2_Missense_Mutation_p.E177Q|KIAA1522_ENST00000294521.3_Missense_Mutation_p.E118Q	NM_001198972.1	NP_001185901.1	Q9P206	K1522_HUMAN	KIAA1522	118										breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				CTACGTGGCTGAGAGCTCCAC	0.602																																						uc001bvv.2		NA																	0					0						c.(352-354)GAG>CAG		hypothetical protein LOC57648							48.0	49.0	49.0					1																	33234319		2030	4200	6230	SO:0001583	missense	57648							g.chr1:33234319G>C	AL713671	CCDS41298.1, CCDS55588.1, CCDS55589.1	1p35.1	2009-02-18			ENSG00000162522	ENSG00000162522			29301	protein-coding gene	gene with protein product						10819331	Standard	NM_020888		Approved		uc001bvu.1	Q9P206	OTTHUMG00000008088	ENST00000373480.1:c.352G>C	1.37:g.33234319G>C	ENSP00000362579:p.Glu118Gln					KIAA1522_uc001bvu.1_Missense_Mutation_p.E177Q|KIAA1522_uc010ohm.1_Missense_Mutation_p.E129Q|KIAA1522_uc010ohn.1_Missense_Mutation_p.E118Q	p.E118Q	NM_020888	NP_065939	Q9P206	K1522_HUMAN			4	488	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)	118					B4DQU8|B5MDY0|C9JH84|Q8TCQ0	Missense_Mutation	SNP	ENST00000373480.1	37	c.352G>C	CCDS55588.1	.	.	.	.	.	.	.	.	.	.	G	13.82	2.350134	0.41599	.	.	ENSG00000162522	ENST00000401073;ENST00000373481;ENST00000294521;ENST00000373480	T;T;T;T	0.37411	2.62;2.62;1.2;2.63	4.94	4.94	0.65067	.	0.091515	0.46145	D	0.000315	T	0.55816	0.1944	L	0.59436	1.845	0.37970	D	0.933246	D;D;D;D	0.76494	0.965;0.998;0.999;0.998	P;D;D;D	0.68353	0.786;0.957;0.948;0.957	T	0.55630	-0.8111	10	0.31617	T	0.26	-18.9414	18.5457	0.91045	0.0:0.0:1.0:0.0	.	118;129;118;177	B4DQU8;Q9P206-3;Q9P206;Q9P206-2	.;.;K1522_HUMAN;.	Q	177;129;118;118	ENSP00000383851:E177Q;ENSP00000362580:E129Q;ENSP00000294521:E118Q;ENSP00000362579:E118Q	ENSP00000294521:E118Q	E	+	1	0	KIAA1522	33006906	1.000000	0.71417	0.964000	0.40570	0.590000	0.36582	6.225000	0.72271	2.470000	0.83445	0.561000	0.74099	GAG		0.602	KIAA1522-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000022130.1			5	30	0	0	0	0	5	30				
DLGAP3	58512	broad.mit.edu	37	1	35334493	35334493	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr1:35334493G>A	ENST00000373347.1	-	9	2466	c.2198C>T	c.(2197-2199)aCg>aTg	p.T733M	DLGAP3_ENST00000235180.4_Missense_Mutation_p.T733M			O95886	DLGP3_HUMAN	discs, large (Drosophila) homolog-associated protein 3	733					cell-cell signaling (GO:0007267)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)	beta-amyloid binding (GO:0001540)			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|prostate(3)|skin(3)|urinary_tract(1)	46		Myeloproliferative disorder(586;0.0393)				CTGGCCCTGCGTGTGGACCGT	0.741																																						uc001byc.2		NA																	0				ovary(3)	3						c.(2197-2199)ACG>ATG		discs, large (Drosophila) homolog-associated							11.0	14.0	13.0					1																	35334493		2077	4102	6179	SO:0001583	missense	58512				cell-cell signaling	cell junction|postsynaptic density|postsynaptic membrane		g.chr1:35334493G>A	AF131778	CCDS30670.1	1p35.3-p34.1	2008-02-05			ENSG00000116544	ENSG00000116544			30368	protein-coding gene	gene with protein product		611413				8619474, 9110174	Standard	NM_001080418		Approved	SAPAP3, DAP3	uc001byc.3	O95886	OTTHUMG00000004049	ENST00000373347.1:c.2198C>T	1.37:g.35334493G>A	ENSP00000362444:p.Thr733Met						p.T733M	NM_001080418	NP_001073887	O95886	DLGP3_HUMAN			7	2198	-		Myeloproliferative disorder(586;0.0393)	733					Q5TDD5|Q9H3X7	Missense_Mutation	SNP	ENST00000373347.1	37	c.2198C>T	CCDS30670.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.402568	0.83230	.	.	ENSG00000116544	ENST00000373347;ENST00000235180	T;T	0.19669	2.13;2.13	5.36	5.36	0.76844	.	0.098404	0.64402	D	0.000002	T	0.48370	0.1496	M	0.71581	2.175	0.52099	D	0.999946	D	0.89917	1.0	D	0.79784	0.993	T	0.42032	-0.9475	10	0.59425	D	0.04	-10.3272	19.277	0.94036	0.0:0.0:1.0:0.0	.	733	O95886	DLGP3_HUMAN	M	733	ENSP00000362444:T733M;ENSP00000235180:T733M	ENSP00000235180:T733M	T	-	2	0	DLGAP3	35107080	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.227000	0.72282	2.782000	0.95742	0.655000	0.94253	ACG		0.741	DLGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011554.1	NM_021234		12	12	0	0	0	0	12	12				
NCDN	23154	broad.mit.edu	37	1	36024783	36024783	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr1:36024783G>A	ENST00000373243.2	+	2	492	c.109G>A	c.(109-111)Gag>Aag	p.E37K	NCDN_ENST00000459931.1_3'UTR|NCDN_ENST00000373253.3_Missense_Mutation_p.E20K|NCDN_ENST00000356090.4_Missense_Mutation_p.E37K|KIAA0319L_ENST00000325722.3_5'Flank	NM_014284.2	NP_055099.1	Q9UBB6	NCDN_HUMAN	neurochondrin	37					bone resorption (GO:0045453)|neuron projection development (GO:0031175)|regulation of neuronal synaptic plasticity (GO:0048168)	cytosol (GO:0005829)|dendrite (GO:0030425)|membrane (GO:0016020)|neuronal cell body (GO:0043025)				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|pancreas(1)|skin(2)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				CCCCACCCTGGAGCGCTACCT	0.597																																						uc001bza.2		NA																	0				large_intestine(2)|pancreas(1)	3						c.(109-111)GAG>AAG		neurochondrin isoform 1							61.0	62.0	62.0					1																	36024783		2203	4300	6503	SO:0001583	missense	23154				neuron projection development	cytosol|dendrite|neuronal cell body		g.chr1:36024783G>A	AB011179	CCDS392.1, CCDS30672.1	1p34.3	2008-02-05			ENSG00000020129	ENSG00000020129			17597	protein-coding gene	gene with protein product		608458				15007648	Standard	NM_014284		Approved	NCDN-1, NCDN-2	uc001bza.3	Q9UBB6	OTTHUMG00000059204	ENST00000373243.2:c.109G>A	1.37:g.36024783G>A	ENSP00000362340:p.Glu37Lys					KIAA0319L_uc001byx.2_5'Flank|KIAA0319L_uc010ohw.1_5'Flank|KIAA0319L_uc001byz.2_5'Flank|KIAA0319L_uc010ohx.1_5'Flank|NCDN_uc001bzb.2_Missense_Mutation_p.E37K|NCDN_uc001bzc.2_Missense_Mutation_p.E20K	p.E37K	NM_001014839	NP_001014839	Q9UBB6	NCDN_HUMAN			3	236	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)	37					D3DPR9|Q9UBY2|Q9Y4A6|Q9Y4D9	Missense_Mutation	SNP	ENST00000373243.2	37	c.109G>A	CCDS392.1	.	.	.	.	.	.	.	.	.	.	G	15.34	2.805673	0.50315	.	.	ENSG00000020129	ENST00000373253;ENST00000356090;ENST00000373243;ENST00000437806	T;T;T	0.69040	-0.37;-0.37;-0.37	4.65	4.65	0.58169	.	0.122858	0.52532	D	0.000061	T	0.44393	0.1291	N	0.13235	0.315	0.52501	D	0.999959	B	0.24920	0.114	B	0.21917	0.037	T	0.35525	-0.9785	10	0.11182	T	0.66	.	10.1755	0.42935	0.1038:0.0:0.8962:0.0	.	37	Q9UBB6	NCDN_HUMAN	K	20;37;37;20	ENSP00000362350:E20K;ENSP00000348394:E37K;ENSP00000362340:E37K	ENSP00000348394:E37K	E	+	1	0	NCDN	35797370	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.118000	0.64673	2.111000	0.64477	0.462000	0.41574	GAG		0.597	NCDN-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131298.1	NM_014284		21	78	0	0	0	0	21	78				
AGO3	192669	broad.mit.edu	37	1	36506033	36506033	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr1:36506033G>C	ENST00000373191.4	+	16	2512	c.2163G>C	c.(2161-2163)agG>agC	p.R721S	AGO3_ENST00000246314.6_Missense_Mutation_p.R487S	NM_024852.3	NP_079128.2	Q9H9G7	AGO3_HUMAN	argonaute RISC catalytic component 3	721	Piwi. {ECO:0000255|HAMAP-Rule:MF_03032}.				epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA catabolic process (GO:0006402)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of stem cell proliferation (GO:0072091)	cytosol (GO:0005829)|membrane (GO:0016020)|micro-ribonucleoprotein complex (GO:0035068)|RISC complex (GO:0016442)	miRNA binding (GO:0035198)|poly(A) RNA binding (GO:0044822)										GTGCTGATAGGACAGAAAGGG	0.413																																						uc001bzp.2		NA																	0					0						c.(2161-2163)AGG>AGC		eukaryotic translation initiation factor 2C, 3							135.0	126.0	129.0					1																	36506033		2202	4300	6502	SO:0001583	missense	192669				mRNA catabolic process|negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|cytosol	protein binding|RNA binding	g.chr1:36506033G>C	AB046787	CCDS399.1, CCDS400.1	1p34	2013-06-03	2013-02-15	2013-02-15	ENSG00000126070	ENSG00000126070		"""Argonaute/PIWI family"""	18421	protein-coding gene	gene with protein product	"""argonaute 3"""	607355	"""eukaryotic translation initiation factor 2C, 3"""	EIF2C3		12906857	Standard	NM_024852		Approved	hAGO3, FLJ12765	uc001bzp.3	Q9H9G7	OTTHUMG00000184172	ENST00000373191.4:c.2163G>C	1.37:g.36506033G>C	ENSP00000362287:p.Arg721Ser					EIF2C3_uc001bzq.2_Missense_Mutation_p.R487S	p.R721S	NM_024852	NP_079128	Q9H9G7	AGO3_HUMAN			16	2419	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)	721			Piwi.		B1ALI0|Q5TA55|Q9H1U6	Missense_Mutation	SNP	ENST00000373191.4	37	c.2163G>C	CCDS399.1	.	.	.	.	.	.	.	.	.	.	G	11.61	1.690198	0.29962	.	.	ENSG00000126070	ENST00000373191;ENST00000246314	T;T	0.27557	1.66;1.66	5.63	-0.188	0.13264	Stem cell self-renewal protein Piwi (3);Ribonuclease H-like (1);	0.047772	0.85682	D	0.000000	T	0.19846	0.0477	L	0.31578	0.945	0.80722	D	1	B	0.15930	0.015	B	0.23018	0.043	T	0.05852	-1.0860	10	0.37606	T	0.19	-10.7212	9.3798	0.38306	0.5847:0.0:0.4153:0.0	.	721	Q9H9G7	AGO3_HUMAN	S	721;487	ENSP00000362287:R721S;ENSP00000246314:R487S	ENSP00000246314:R487S	R	+	3	2	EIF2C3	36278620	0.999000	0.42202	0.595000	0.28798	0.490000	0.33462	0.780000	0.26760	0.059000	0.16252	0.655000	0.94253	AGG		0.413	AGO3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019831.4	NM_024852		26	75	0	0	0	0	26	75				
MUTYH	4595	broad.mit.edu	37	1	45796983	45796983	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr1:45796983G>C	ENST00000372098.3	-	14	1471	c.1338C>G	c.(1336-1338)atC>atG	p.I446M	MUTYH_ENST00000372104.1_Missense_Mutation_p.I421M|MUTYH_ENST00000354383.6_Missense_Mutation_p.I422M|MUTYH_ENST00000448481.1_Missense_Mutation_p.I432M|MUTYH_ENST00000529984.1_Missense_Mutation_p.I116M|MUTYH_ENST00000528013.2_Missense_Mutation_p.I435M|MUTYH_ENST00000355498.2_Missense_Mutation_p.I421M|MUTYH_ENST00000450313.1_Missense_Mutation_p.I449M|MUTYH_ENST00000488731.2_Missense_Mutation_p.I116M|MUTYH_ENST00000456914.2_Missense_Mutation_p.I421M|MUTYH_ENST00000531105.1_Intron|MUTYH_ENST00000372115.3_Missense_Mutation_p.I435M|MUTYH_ENST00000372110.3_Missense_Mutation_p.I436M|MUTYH_ENST00000372100.5_Missense_Mutation_p.I432M|MUTYH_ENST00000528332.2_Missense_Mutation_p.I130M			Q9UIF7	MUTYH_HUMAN	mutY homolog	446	Nudix hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00794}.				base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|depurination (GO:0045007)|DNA repair (GO:0006281)|mismatch repair (GO:0006298)	mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|hydrolase activity, acting on glycosyl bonds (GO:0016798)|metal ion binding (GO:0046872)|MutSalpha complex binding (GO:0032407)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|urinary_tract(1)	19	Acute lymphoblastic leukemia(166;0.155)					ATGTCAGCTTGATGTGAGAGA	0.537			Mis			colorectal		Base excision repair (BER), DNA glycosylases	MUTYH-associated polyposis																													uc001cnm.2		NA	yes	Rec		Adenomatous polyposis coli	1	1p34.3-1p32.1	4595	Mis	mutY homolog (E. coli)			E		colorectal			0					0						c.(1336-1338)ATC>ATG	BER_DNA_glycosylases	mutY homolog isoform 1							88.0	86.0	87.0					1																	45796983		2203	4300	6503	SO:0001583	missense	4595	MUTYH-associated_polyposis	Familial Cancer Database	MAP, MYH-associated polyposis	depurination|mismatch repair	nucleoplasm	4 iron, 4 sulfur cluster binding|DNA N-glycosylase activity|endonuclease activity|metal ion binding|MutSalpha complex binding	g.chr1:45796983G>C	U63329	CCDS520.1, CCDS41320.1, CCDS41321.1, CCDS41322.1, CCDS72776.1, CCDS72777.1	1p34.1	2014-09-17	2013-09-12		ENSG00000132781	ENSG00000132781			7527	protein-coding gene	gene with protein product		604933	"""mutY (E. coli) homolog"", ""mutY homolog (E. coli)"""			7823963, 10684930	Standard	NM_012222		Approved	MYH	uc009vxp.3	Q9UIF7	OTTHUMG00000007682	ENST00000372098.3:c.1338C>G	1.37:g.45796983G>C	ENSP00000361170:p.Ile446Met					MUTYH_uc009vxn.2_Missense_Mutation_p.I271M|MUTYH_uc001cnf.2_Missense_Mutation_p.I421M|MUTYH_uc009vxo.2_Missense_Mutation_p.I421M|MUTYH_uc001cng.2_Missense_Mutation_p.I432M|MUTYH_uc001cnj.2_Missense_Mutation_p.I329M|MUTYH_uc001cni.2_Missense_Mutation_p.I421M|MUTYH_uc001cnh.2_Missense_Mutation_p.I422M|MUTYH_uc001cno.2_Missense_Mutation_p.I329M|MUTYH_uc001cnk.2_Missense_Mutation_p.I306M|MUTYH_uc010oll.1_Missense_Mutation_p.I130M|MUTYH_uc001cnl.2_Missense_Mutation_p.I435M|MUTYH_uc009vxp.2_Missense_Mutation_p.I449M|MUTYH_uc001cnn.2_Missense_Mutation_p.I436M	p.I446M	NM_012222	NP_036354	Q9UIF7	MUTYH_HUMAN			14	1554	-	Acute lymphoblastic leukemia(166;0.155)		446			Nudix hydrolase.		D3DPZ4|Q15830|Q9UBP2|Q9UBS7|Q9UIF4|Q9UIF5|Q9UIF6	Missense_Mutation	SNP	ENST00000372098.3	37	c.1338C>G	CCDS520.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.60|14.60	2.583642|2.583642	0.46006|0.46006	.|.	.|.	ENSG00000132781|ENSG00000132781	ENST00000529984;ENST00000528332;ENST00000372104;ENST00000448481;ENST00000456914;ENST00000354383;ENST00000355498;ENST00000372098;ENST00000372110;ENST00000372115;ENST00000488731;ENST00000450313;ENST00000372100|ENST00000529892	D;D;D;D;D;D;D;D;D;D;D;D;D|.	0.93488|.	-3.23;-3.23;-3.23;-3.23;-3.23;-3.23;-3.23;-3.23;-3.23;-3.23;-3.23;-3.23;-3.23|.	5.16|5.16	3.3|3.3	0.37823|0.37823	NUDIX hydrolase domain (2);NUDIX hydrolase domain-like (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.76800|.	0.4038|.	M|M	0.90650|0.90650	3.135|3.135	0.47737|0.47737	D|D	0.9995|0.9995	D;D;D;D;D;D;D;D|.	0.76494|.	0.985;0.999;0.981;0.999;0.981;0.998;0.997;0.999|.	D;D;P;D;P;D;D;D|.	0.79108|.	0.992;0.981;0.891;0.992;0.891;0.97;0.957;0.973|.	T|.	0.77003|.	-0.2749|.	10|.	0.46703|.	T|.	0.11|.	-22.1305|-22.1305	8.6566|8.6566	0.34066|0.34066	0.3019:0.0:0.6981:0.0|0.3019:0.0:0.6981:0.0	.|.	130;449;446;436;446;435;329;422|.	B4DEX2;E5KP25;E5KP26;Q9UIF7-2;Q9UIF7;E5KP27;D3DPZ6;E5KP28|.	.;.;.;.;MUTYH_HUMAN;.;.;.|.	M|X	116;130;421;432;421;422;421;446;436;435;116;449;432|113	ENSP00000437093:I116M;ENSP00000433076:I130M;ENSP00000361176:I421M;ENSP00000409718:I432M;ENSP00000407590:I421M;ENSP00000346354:I422M;ENSP00000347685:I421M;ENSP00000361170:I446M;ENSP00000361182:I436M;ENSP00000361187:I435M;ENSP00000432330:I116M;ENSP00000408176:I449M;ENSP00000361172:I432M|.	ENSP00000346354:I422M|.	I|S	-|-	3|2	3|0	MUTYH|MUTYH	45569570|45569570	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.973000|0.973000	0.67179|0.67179	2.498000|2.498000	0.45363|0.45363	0.586000|0.586000	0.29626|0.29626	-0.140000|-0.140000	0.14226|0.14226	ATC|TCA		0.537	MUTYH-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000020529.1	NM_012222		11	58	0	0	0	0	11	58				
CYP4X1	260293	broad.mit.edu	37	1	47515108	47515108	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr1:47515108G>C	ENST00000371901.3	+	11	1537	c.1287G>C	c.(1285-1287)ttG>ttC	p.L429F	CYP4X1_ENST00000538609.1_Missense_Mutation_p.L428F	NM_178033.1	NP_828847.1	Q8N118	CP4X1_HUMAN	cytochrome P450, family 4, subfamily X, polypeptide 1	429						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	17						TTGACCCCTTGAGGTTCTCTC	0.458																																						uc001cqt.2		NA																	0				ovary(1)|skin(1)	2						c.(1285-1287)TTG>TTC		cytochrome P450, family 4, subfamily X,							182.0	183.0	183.0					1																	47515108		2203	4300	6503	SO:0001583	missense	260293					endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding	g.chr1:47515108G>C	AK091806	CCDS544.1	1p33	2008-02-05			ENSG00000186377	ENSG00000186377		"""Cytochrome P450s"""	20244	protein-coding gene	gene with protein product		614999				12176035	Standard	NM_178033		Approved	MGC40051	uc001cqt.3	Q8N118	OTTHUMG00000008017	ENST00000371901.3:c.1287G>C	1.37:g.47515108G>C	ENSP00000360968:p.Leu429Phe					CYP4X1_uc001cqr.2_Missense_Mutation_p.L428F|CYP4X1_uc001cqs.2_Missense_Mutation_p.L364F	p.L429F	NM_178033	NP_828847	Q8N118	CP4X1_HUMAN			11	1537	+			429					G3V1U1|Q5VVE5|Q6ZN67|Q8NAZ3	Missense_Mutation	SNP	ENST00000371901.3	37	c.1287G>C	CCDS544.1	.	.	.	.	.	.	.	.	.	.	g	10.73	1.432108	0.25813	.	.	ENSG00000186377	ENST00000538609;ENST00000371901	T;T	0.79141	-1.24;-0.32	5.82	2.52	0.30459	.	0.305531	0.31772	N	0.007087	T	0.70159	0.3192	L	0.43152	1.355	0.31506	N	0.66416	P;P	0.49961	0.91;0.93	P;P	0.48873	0.593;0.496	T	0.67569	-0.5637	10	0.17832	T	0.49	.	6.758	0.23524	0.166:0.2762:0.5578:0.0	.	429;428	Q8N118;G3V1U1	CP4X1_HUMAN;.	F	428;429	ENSP00000445965:L428F;ENSP00000360968:L429F	ENSP00000360968:L429F	L	+	3	2	CYP4X1	47287695	0.945000	0.32115	0.993000	0.49108	0.963000	0.63663	0.713000	0.25794	0.823000	0.34589	-0.215000	0.12644	TTG		0.458	CYP4X1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022017.1	NM_178033		36	95	0	0	0	0	36	95				
SGIP1	84251	broad.mit.edu	37	1	67155939	67155939	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr1:67155939G>A	ENST00000371037.4	+	17	1587	c.1510G>A	c.(1510-1512)Gaa>Aaa	p.E504K	SGIP1_ENST00000371035.3_Missense_Mutation_p.E294K|SGIP1_ENST00000237247.6_Missense_Mutation_p.E535K|SGIP1_ENST00000371039.1_Missense_Mutation_p.E305K|SGIP1_ENST00000371036.3_Missense_Mutation_p.E304K	NM_032291.2	NP_115667.2	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting protein 1	504					endocytosis (GO:0006897)|membrane tubulation (GO:0097320)|positive regulation of energy homeostasis (GO:2000507)|positive regulation of feeding behavior (GO:2000253)|positive regulation of receptor-mediated endocytosis (GO:0048260)|response to dietary excess (GO:0002021)	AP-2 adaptor complex (GO:0030122)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	microtubule binding (GO:0008017)|phospholipid binding (GO:0005543)|SH3 domain binding (GO:0017124)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						AGCGCGGGCTGAAAGCACTTC	0.453																																						uc001dcr.2		NA																	0				ovary(3)	3						c.(1510-1512)GAA>AAA		SH3-domain GRB2-like (endophilin) interacting							158.0	151.0	154.0					1																	67155939		2203	4300	6503	SO:0001583	missense	84251				positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess	AP-2 adaptor complex	microtubule binding|phospholipid binding|SH3 domain binding	g.chr1:67155939G>A	AL136561	CCDS30744.1	1p31.3	2008-02-05			ENSG00000118473	ENSG00000118473			25412	protein-coding gene	gene with protein product		611540				11230166	Standard	NM_032291		Approved	DKFZp761D221	uc001dcr.3	Q9BQI5	OTTHUMG00000009161	ENST00000371037.4:c.1510G>A	1.37:g.67155939G>A	ENSP00000360076:p.Glu504Lys					SGIP1_uc010opd.1_Missense_Mutation_p.E104K|SGIP1_uc001dcs.2_Missense_Mutation_p.E104K|SGIP1_uc001dct.2_Missense_Mutation_p.E104K|SGIP1_uc009wat.2_Missense_Mutation_p.E298K	p.E504K	NM_032291	NP_115667	Q9BQI5	SGIP1_HUMAN			17	1727	+			504					A6NL81|A6NLD1|Q4LE32|Q5VYE2|Q5VYE3|Q5VYE4|Q68D76|Q6MZY6|Q8IWC2	Missense_Mutation	SNP	ENST00000371037.4	37	c.1510G>A	CCDS30744.1	.	.	.	.	.	.	.	.	.	.	G	35	5.518560	0.96416	.	.	ENSG00000118473	ENST00000237247;ENST00000371039;ENST00000371035;ENST00000371038;ENST00000407289;ENST00000371036;ENST00000371037	T;T;T;T;T	0.03272	3.99;3.99;3.99;3.99;3.99	6.04	6.04	0.98038	.	0.000000	0.85682	D	0.000000	T	0.12518	0.0304	M	0.73962	2.25	0.58432	D	0.999999	D;P;P;D	0.69078	0.997;0.956;0.956;0.997	D;D;D;D	0.73380	0.98;0.931;0.931;0.98	T	0.05178	-1.0901	10	0.29301	T	0.29	-21.1021	20.5792	0.99380	0.0:0.0:1.0:0.0	.	534;104;294;504	A6NEV3;B3KR01;B7Z5H8;Q9BQI5	.;.;.;SGIP1_HUMAN	K	535;305;294;534;507;304;504	ENSP00000237247:E535K;ENSP00000360078:E305K;ENSP00000360074:E294K;ENSP00000360075:E304K;ENSP00000360076:E504K	ENSP00000237247:E535K	E	+	1	0	SGIP1	66928527	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.434000	0.97515	2.873000	0.98535	0.561000	0.74099	GAA		0.453	SGIP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000025395.4	NM_032291		55	140	0	0	0	0	55	140				
C1orf141	400757	broad.mit.edu	37	1	67558949	67558949	+	Silent	SNP	G	G	C			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr1:67558949G>C	ENST00000371007.2	-	8	1051	c.942C>G	c.(940-942)ctC>ctG	p.L314L	C1orf141_ENST00000371006.1_Silent_p.L314L|C1orf141_ENST00000544837.1_Silent_p.L314L	NM_001276351.1	NP_001263280.1	Q5JVX7	CA141_HUMAN	chromosome 1 open reading frame 141	314										NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|skin(1)	18						AGAAATTATAGAGTGTATTCC	0.343																																						uc001ddl.1		NA																	0				ovary(1)	1						c.(940-942)CTC>CTG		hypothetical protein LOC400757							79.0	84.0	82.0					1																	67558949		2203	4300	6503	SO:0001819	synonymous_variant	400757							g.chr1:67558949G>C	BC090886	CCDS30745.1, CCDS72804.1	1p31.2	2012-07-23			ENSG00000203963	ENSG00000203963			32044	protein-coding gene	gene with protein product							Standard	NM_001276351		Approved		uc001ddm.2	Q5JVX7	OTTHUMG00000009406	ENST00000371007.2:c.942C>G	1.37:g.67558949G>C						C1orf141_uc001ddm.1_Silent_p.L314L|C1orf141_uc001ddn.1_RNA	p.L314L	NM_001013674	NP_001013696	Q5JVX7	CA141_HUMAN			7	1053	-			314					Q0P5P5|Q5JVX5	Silent	SNP	ENST00000371007.2	37	c.942C>G	CCDS30745.1																																																																																				0.343	C1orf141-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026096.2	NM_001013674		31	98	0	0	0	0	31	98				
LRRC7	57554	broad.mit.edu	37	1	70505167	70505167	+	Silent	SNP	G	G	C			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr1:70505167G>C	ENST00000035383.5	+	19	3576	c.3546G>C	c.(3544-3546)gtG>gtC	p.V1182V	LRRC7_ENST00000310961.5_Silent_p.V1187V|LRRC7_ENST00000415775.2_Silent_p.V466V	NM_020794.2	NP_065845.1	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	1182						cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic membrane (GO:0045211)				breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						ATCAAGAAGTGAAAGCTCAGG	0.502																																						uc001dep.2		NA																	0				ovary(9)|breast(2)|central_nervous_system(2)|liver(1)	14						c.(3544-3546)GTG>GTC		leucine rich repeat containing 7							59.0	59.0	59.0					1																	70505167		2203	4300	6503	SO:0001819	synonymous_variant	57554					centrosome|focal adhesion|nucleolus	protein binding	g.chr1:70505167G>C		CCDS645.1	1p31.1	2008-02-05			ENSG00000033122	ENSG00000033122			18531	protein-coding gene	gene with protein product		614453				12525888	Standard	NM_020794		Approved	KIAA1365, densin-180	uc001dep.3	Q96NW7	OTTHUMG00000059194	ENST00000035383.5:c.3546G>C	1.37:g.70505167G>C						LRRC7_uc009wbg.2_Silent_p.V466V|LRRC7_uc001deq.2_Silent_p.V423V	p.V1182V	NM_020794	NP_065845	Q96NW7	LRRC7_HUMAN			19	3576	+			1182					Q5VXC2|Q5VXC3|Q68D07|Q86VE8|Q8WX20|Q9P2I2	Silent	SNP	ENST00000035383.5	37	c.3546G>C	CCDS645.1																																																																																				0.502	LRRC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131261.1	NM_020794		15	53	0	0	0	0	15	53				
USP33	23032	broad.mit.edu	37	1	78163136	78163136	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr1:78163136C>T	ENST00000370793.1	-	25	3041	c.2695G>A	c.(2695-2697)Gaa>Aaa	p.E899K	USP33_ENST00000370794.3_Missense_Mutation_p.E868K|USP33_ENST00000357428.1_Missense_Mutation_p.E899K	NM_015017.4	NP_055832.3	Q8TEY7	UBP33_HUMAN	ubiquitin specific peptidase 33	899	DUSP 2. {ECO:0000255|PROSITE- ProRule:PRU00613}.				axon guidance (GO:0007411)|cell migration (GO:0016477)|centrosome duplication (GO:0051298)|endocytosis (GO:0006897)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|ubiquitin-dependent protein catabolic process (GO:0006511)	cell body (GO:0044297)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|VCB complex (GO:0030891)	cysteine-type endopeptidase activity (GO:0004197)|G-protein coupled receptor binding (GO:0001664)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	44						CATGTTTCTTCAGAAATCTGG	0.388																																					Melanoma(152;72 1870 11110 26780 42647)	uc001dht.2		NA																	0				lung(2)|ovary(1)	3						c.(2695-2697)GAA>AAA		ubiquitin specific protease 33 isoform 1							78.0	85.0	83.0					1																	78163136		2203	4300	6503	SO:0001583	missense	23032				axon guidance|cell migration|endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm|VCB complex	cysteine-type endopeptidase activity|G-protein-coupled receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	g.chr1:78163136C>T	AF383173	CCDS678.1, CCDS679.1, CCDS680.1	1p31	2008-02-05	2005-08-08		ENSG00000077254	ENSG00000077254		"""Ubiquitin-specific peptidases"""	20059	protein-coding gene	gene with protein product		615146	"""ubiquitin specific protease 33"""			12838346	Standard	NM_015017		Approved	KIAA1097, VDU1	uc001dht.4	Q8TEY7	OTTHUMG00000009651	ENST00000370793.1:c.2695G>A	1.37:g.78163136C>T	ENSP00000359829:p.Glu899Lys					USP33_uc009wca.1_RNA|USP33_uc001dhs.2_3'UTR|USP33_uc001dhu.2_Missense_Mutation_p.E868K	p.E899K	NM_015017	NP_055832	Q8TEY7	UBP33_HUMAN			25	3042	-			899			DUSP 2.		Q8TEY6|Q96AV6|Q9H9F0|Q9UPQ5	Missense_Mutation	SNP	ENST00000370793.1	37	c.2695G>A	CCDS678.1	.	.	.	.	.	.	.	.	.	.	C	34	5.292876	0.95546	.	.	ENSG00000077254	ENST00000370794;ENST00000370793;ENST00000357428	T;T;T	0.11385	2.79;2.78;2.78	5.0	5.0	0.66597	Peptidase C19, ubiquitin-specific peptidase, DUSP domain (3);	0.000000	0.85682	D	0.000000	T	0.20251	0.0487	L	0.55834	1.745	0.80722	D	1	D	0.64830	0.994	D	0.67725	0.953	T	0.00651	-1.1626	10	0.44086	T	0.13	.	18.6967	0.91603	0.0:1.0:0.0:0.0	.	899	Q8TEY7	UBP33_HUMAN	K	868;899;899	ENSP00000359830:E868K;ENSP00000359829:E899K;ENSP00000350009:E899K	ENSP00000350009:E899K	E	-	1	0	USP33	77935724	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.366000	0.79548	2.486000	0.83907	0.650000	0.86243	GAA		0.388	USP33-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000026923.2	NM_015017		35	114	0	0	0	0	35	114				
LRRC8C	84230	broad.mit.edu	37	1	90178699	90178699	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr1:90178699G>C	ENST00000370454.4	+	3	825	c.570G>C	c.(568-570)aaG>aaC	p.K190N	RP11-302M6.4_ENST00000370453.5_Intron|LRRC8C_ENST00000479252.1_Intron	NM_032270.4	NP_115646	Q8TDW0	LRC8C_HUMAN	leucine rich repeat containing 8 family, member C	190					fat cell differentiation (GO:0045444)|ion transport (GO:0006811)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	28		all_lung(203;0.126)		all cancers(265;0.00756)|Epithelial(280;0.0313)		ACAACAGGAAGAACAACATGA	0.453																																						uc001dnl.3		NA																	0				ovary(3)|skin(3)|pancreas(1)|central_nervous_system(1)	8						c.(568-570)AAG>AAC		leucine rich repeat containing 8 family, member							63.0	64.0	63.0					1																	90178699		2203	4300	6503	SO:0001583	missense	84230					endoplasmic reticulum membrane|integral to membrane		g.chr1:90178699G>C		CCDS725.1	1p22.2	2011-02-10			ENSG00000171488	ENSG00000171488			25075	protein-coding gene	gene with protein product	"""hypothetical protein AD158"""	612889				11230166	Standard	NM_032270		Approved	AD158	uc001dnl.4	Q8TDW0	OTTHUMG00000010305	ENST00000370454.4:c.570G>C	1.37:g.90178699G>C	ENSP00000359483:p.Lys190Asn						p.K190N	NM_032270	NP_115646	Q8TDW0	LRC8C_HUMAN		all cancers(265;0.00756)|Epithelial(280;0.0313)	3	812	+		all_lung(203;0.126)	190					B3KXS9|Q29RV6|Q9H075	Missense_Mutation	SNP	ENST00000370454.4	37	c.570G>C	CCDS725.1	.	.	.	.	.	.	.	.	.	.	G	16.74	3.207888	0.58343	.	.	ENSG00000171488	ENST00000370454	T	0.24908	1.83	5.94	2.59	0.31030	.	0.085770	0.85682	D	0.000000	T	0.15305	0.0369	L	0.60455	1.87	0.47441	D	0.999424	P	0.42827	0.791	B	0.42593	0.392	T	0.02553	-1.1142	10	0.32370	T	0.25	.	12.9606	0.58455	0.2049:0.0:0.7951:0.0	.	190	Q8TDW0	LRC8C_HUMAN	N	190	ENSP00000359483:K190N	ENSP00000359483:K190N	K	+	3	2	LRRC8C	89951287	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	4.133000	0.57983	0.828000	0.34709	0.650000	0.86243	AAG		0.453	LRRC8C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028435.2	NM_032270		17	78	0	0	0	0	17	78				
ABCA4	24	broad.mit.edu	37	1	94528713	94528713	+	Missense_Mutation	SNP	C	C	T	rs61748559		TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr1:94528713C>T	ENST00000370225.3	-	12	1801	c.1715G>A	c.(1714-1716)cGa>cAa	p.R572Q	ABCA4_ENST00000535735.1_Missense_Mutation_p.R572Q	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	572			R -> P (in STGD1). {ECO:0000269|PubMed:18977788}.|R -> Q (in STGD1). {ECO:0000269|PubMed:10746567, ECO:0000269|PubMed:10958763}.		phospholipid transfer to membrane (GO:0006649)|photoreceptor cell maintenance (GO:0045494)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|phospholipid-translocating ATPase activity (GO:0004012)|transporter activity (GO:0005215)			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		TATGTCCATTCGGATCTTATA	0.473													C|||	1	0.000199681	0.0	0.0	5008	,	,		17078	0.0		0.0	False		,,,				2504	0.001					uc001dqh.2		NA																	0				ovary(4)|skin(4)|central_nervous_system(2)|upper_aerodigestive_tract(1)|breast(1)	12	GRCh37	CM990023|CM990024	ABCA4	M	rs61748559	c.(1714-1716)CGA>CAA		ATP-binding cassette, sub-family A member 4							207.0	190.0	195.0					1																	94528713		2203	4300	6503	SO:0001583	missense	24				phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr1:94528713C>T	U88667	CCDS747.1	1p22	2013-01-23			ENSG00000198691	ENSG00000198691		"""ATP binding cassette transporters / subfamily A"""	34	protein-coding gene	gene with protein product	"""Stargardt disease"""	601691	"""ATP-binding cassette transporter, retinal-specific"""	STGD1, ABCR, RP19, STGD		9490294	Standard	NM_000350		Approved	FFM, ARMD2, CORD3	uc001dqh.3	P78363	OTTHUMG00000010622	ENST00000370225.3:c.1715G>A	1.37:g.94528713C>T	ENSP00000359245:p.Arg572Gln					ABCA4_uc010otn.1_Missense_Mutation_p.R572Q	p.R572Q	NM_000350	NP_000341	P78363	ABCA4_HUMAN		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)	12	1819	-		all_lung(203;0.000757)|Lung NSC(277;0.00335)	572		R -> P (in STGD1).|R -> Q (in STGD1).	Extracellular.		O15112|O60438|O60915|Q0QD48|Q4LE31	Missense_Mutation	SNP	ENST00000370225.3	37	c.1715G>A	CCDS747.1	.	.	.	.	.	.	.	.	.	.	C	35	5.479559	0.96307	.	.	ENSG00000198691	ENST00000370225;ENST00000535735	D;D	0.98747	-5.11;-5.11	5.04	5.04	0.67666	.	0.000000	0.85682	D	0.000000	D	0.99465	0.9810	H	0.95043	3.615	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.995	D	0.98472	1.0601	10	0.87932	D	0	.	18.5729	0.91142	0.0:1.0:0.0:0.0	rs61748559	572;572	F5H6E5;P78363	.;ABCA4_HUMAN	Q	572	ENSP00000359245:R572Q;ENSP00000437682:R572Q	ENSP00000359245:R572Q	R	-	2	0	ABCA4	94301301	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	4.817000	0.62650	2.614000	0.88457	0.555000	0.69702	CGA		0.473	ABCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029320.1	NM_000350		58	148	0	0	0	0	58	148				
WDR77	79084	broad.mit.edu	37	1	111990152	111990152	+	Silent	SNP	G	G	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr1:111990152G>A	ENST00000235090.5	-	3	554	c.348C>T	c.(346-348)gtC>gtT	p.V116V	ATP5F1_ENST00000369722.3_5'Flank|WDR77_ENST00000497278.1_5'UTR|ATP5F1_ENST00000483994.1_5'Flank|WDR77_ENST00000411751.2_Intron|Y_RNA_ENST00000363020.1_RNA	NM_024102.2	NP_077007.1	Q9BQA1	MEP50_HUMAN	WD repeat domain 77	116					gene expression (GO:0010467)|ncRNA metabolic process (GO:0034660)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|RNA metabolic process (GO:0016070)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|spliceosomal snRNP assembly (GO:0000387)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|methylosome (GO:0034709)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)			NS(2)|endometrium(2)|kidney(2)|large_intestine(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10		all_cancers(81;0.000902)|all_epithelial(167;0.00056)|all_lung(203;0.00277)|Lung NSC(277;0.0043)		Lung(183;0.0238)|Colorectal(144;0.0296)|all cancers(265;0.0488)|Epithelial(280;0.0732)|COAD - Colon adenocarcinoma(174;0.114)|LUSC - Lung squamous cell carcinoma(189;0.135)		AGAACTTGCTGACAATAAGTG	0.453																																						uc001ebb.2		NA																	0					0						c.(346-348)GTC>GTT		WD repeat domain 77							158.0	128.0	138.0					1																	111990152		2203	4300	6503	SO:0001819	synonymous_variant	79084				ncRNA metabolic process|spliceosomal snRNP assembly	cytosol|nucleus	ligand-dependent nuclear receptor transcription coactivator activity|protein binding	g.chr1:111990152G>A	BC016946	CCDS835.1	1p13.2	2013-01-09		2005-08-09	ENSG00000116455	ENSG00000116455		"""WD repeat domain containing"""	29652	protein-coding gene	gene with protein product		611734				11756452, 8619474	Standard	NM_024102		Approved	MEP50	uc001ebb.3	Q9BQA1	OTTHUMG00000011748	ENST00000235090.5:c.348C>T	1.37:g.111990152G>A						WDR77_uc010owd.1_Intron|WDR77_uc010owe.1_Intron|ATP5F1_uc009wgf.1_5'Flank|ATP5F1_uc001ebc.2_5'Flank|ATP5F1_uc001ebd.3_5'Flank	p.V116V	NM_024102	NP_077007	Q9BQA1	MEP50_HUMAN		Lung(183;0.0238)|Colorectal(144;0.0296)|all cancers(265;0.0488)|Epithelial(280;0.0732)|COAD - Colon adenocarcinoma(174;0.114)|LUSC - Lung squamous cell carcinoma(189;0.135)	3	387	-		all_cancers(81;0.000902)|all_epithelial(167;0.00056)|all_lung(203;0.00277)|Lung NSC(277;0.0043)	116			WD 1.		B3KMW6|B4DP38|Q3LID2|Q53FU2|Q6JZZ5|Q96GK4|Q9BWY3	Silent	SNP	ENST00000235090.5	37	c.348C>T	CCDS835.1	.	.	.	.	.	.	.	.	.	.	G	10.71	1.426563	0.25726	.	.	ENSG00000116455	ENST00000449340	.	.	.	5.76	3.87	0.44632	.	.	.	.	.	T	0.48295	0.1492	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.46456	-0.9190	4	.	.	.	-21.0256	10.4083	0.44278	0.0694:0.2536:0.6769:0.0	.	.	.	.	L	53	.	.	S	-	2	0	WDR77	111791675	0.956000	0.32656	1.000000	0.80357	0.990000	0.78478	-0.035000	0.12205	0.775000	0.33450	0.462000	0.41574	TCA		0.453	WDR77-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032465.1	NM_024102		11	40	0	0	0	0	11	40				
DDX20	11218	broad.mit.edu	37	1	112303904	112303904	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr1:112303904C>T	ENST00000369702.4	+	7	1639	c.1019C>T	c.(1018-1020)tCa>tTa	p.S340L	DDX20_ENST00000536167.1_3'UTR|DDX20_ENST00000475700.1_5'UTR	NM_007204.4	NP_009135.4	Q9UHI6	DDX20_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 20	340	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)|gene expression (GO:0010467)|ncRNA metabolic process (GO:0034660)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|oogenesis (GO:0048477)|positive regulation of apoptotic process (GO:0043065)|regulation of steroid biosynthetic process (GO:0050810)|RNA metabolic process (GO:0016070)|RNA processing (GO:0006396)|spliceosomal snRNP assembly (GO:0000387)|spliceosomal tri-snRNP complex assembly (GO:0000244)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)|transcriptional repressor complex (GO:0017053)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|DNA binding (GO:0003677)			endometrium(3)|kidney(7)|large_intestine(6)|lung(3)|pancreas(1)|prostate(1)	21		all_cancers(81;1.06e-05)|all_epithelial(167;7.36e-06)|all_lung(203;2.44e-05)|Lung NSC(69;4.15e-05)		Lung(183;0.0234)|Colorectal(144;0.0282)|all cancers(265;0.0614)|Epithelial(280;0.0999)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GAGTGCATTTCAGGTAAGTTC	0.338																																						uc001ebs.2		NA																	0				lung(1)|kidney(1)	2						c.(1018-1020)TCA>TTA		DEAD (Asp-Glu-Ala-Asp) box polypeptide 20							114.0	114.0	114.0					1																	112303904		2202	4299	6501	SO:0001583	missense	11218				assembly of spliceosomal tri-snRNP|ncRNA metabolic process	Cajal body|cytoskeleton|cytosol|spliceosomal complex	ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding	g.chr1:112303904C>T	AF106019	CCDS842.1	1p21.1-p13.2	2008-02-05	2003-06-13		ENSG00000064703	ENSG00000064703		"""DEAD-boxes"""	2743	protein-coding gene	gene with protein product		606168	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 20, 103kD"""			10383418	Standard	NM_007204		Approved	DP103, GEMIN3	uc001ebs.3	Q9UHI6	OTTHUMG00000011956	ENST00000369702.4:c.1019C>T	1.37:g.112303904C>T	ENSP00000358716:p.Ser340Leu					DDX20_uc010owf.1_Missense_Mutation_p.S102L|DDX20_uc001ebt.2_5'UTR	p.S340L	NM_007204	NP_009135	Q9UHI6	DDX20_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0282)|all cancers(265;0.0614)|Epithelial(280;0.0999)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	7	1376	+		all_cancers(81;1.06e-05)|all_epithelial(167;7.36e-06)|all_lung(203;2.44e-05)|Lung NSC(69;4.15e-05)	340			Helicase C-terminal.		B4DWV7|Q96F72|Q9NVM3|Q9UF59|Q9UIY0|Q9Y659	Missense_Mutation	SNP	ENST00000369702.4	37	c.1019C>T	CCDS842.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.736638	0.89482	.	.	ENSG00000064703	ENST00000369702	T	0.04758	3.56	5.68	5.68	0.88126	Helicase, C-terminal (3);	0.141793	0.49916	D	0.000134	T	0.12475	0.0303	M	0.80746	2.51	0.80722	D	1	P	0.47604	0.898	P	0.60415	0.874	T	0.00261	-1.1868	10	0.41790	T	0.15	-38.2581	13.6764	0.62456	0.0:0.9255:0.0:0.0745	.	340	Q9UHI6	DDX20_HUMAN	L	340	ENSP00000358716:S340L	ENSP00000358716:S340L	S	+	2	0	DDX20	112105427	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	3.381000	0.52455	2.698000	0.92095	0.561000	0.74099	TCA		0.338	DDX20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033063.2	NM_007204		11	78	0	0	0	0	11	78				
PDZK1	5174	broad.mit.edu	37	1	145761230	145761230	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr1:145761230C>A	ENST00000344770.2	+	7	1116	c.1043C>A	c.(1042-1044)tCt>tAt	p.S348Y	PDZK1_ENST00000451928.2_Missense_Mutation_p.S237Y|PDZK1_ENST00000417171.1_Missense_Mutation_p.S348Y	NM_002614.4	NP_002605.2	Q5T2W1	NHRF3_HUMAN	PDZ domain containing 1	348					carnitine transport (GO:0015879)|cell proliferation (GO:0008283)|drug transport (GO:0015893)|establishment of protein localization to plasma membrane (GO:0090002)|positive regulation of ion transmembrane transport (GO:0034767)|positive regulation of protein targeting to membrane (GO:0090314)|regulation of anion transport (GO:0044070)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|microvillus membrane (GO:0031528)|plasma membrane (GO:0005886)	PDZ domain binding (GO:0030165)|transporter activity (GO:0005215)			NS(1)|endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)	7	all_hematologic(18;0.00473)|Acute lymphoblastic leukemia(18;0.0786)		KIRC - Kidney renal clear cell carcinoma(6;0.0764)|Kidney(552;0.118)|Colorectal(543;0.229)			CCCAATGGCTCTGTCAAGGAG	0.423																																						uc001eon.1		NA																	0					0						c.(1042-1044)TCT>TAT		PDZ domain containing 1							7.0	7.0	7.0					1																	145761230		1383	3045	4428	SO:0001583	missense	5174				carnitine transport|cell proliferation|drug transport|positive regulation of ion transmembrane transport	brush border membrane|cytoplasm	PDZ domain binding|transporter activity	g.chr1:145761230C>A	AF012281	CCDS72859.1, CCDS72860.1	1q21	2009-08-21			ENSG00000174827	ENSG00000174827			8821	protein-coding gene	gene with protein product		603831				9461128	Standard	NM_002614		Approved	PDZD1, NHERF3	uc001eoo.2	Q5T2W1	OTTHUMG00000013735	ENST00000344770.2:c.1043C>A	1.37:g.145761230C>A	ENSP00000342143:p.Ser348Tyr					NBPF10_uc001emp.3_Intron|PDZK1_uc001eoo.1_Missense_Mutation_p.S348Y|PDZK1_uc010oza.1_Missense_Mutation_p.S237Y	p.S348Y	NM_002614	NP_002605	Q5T2W1	NHRF3_HUMAN	KIRC - Kidney renal clear cell carcinoma(6;0.0764)|Kidney(552;0.118)|Colorectal(543;0.229)		8	1140	+	all_hematologic(18;0.00473)|Acute lymphoblastic leukemia(18;0.0786)		348					B4DPB9|E7EU02|O60450|Q5T5P6|Q9BQ41	Missense_Mutation	SNP	ENST00000344770.2	37	c.1043C>A	CCDS924.1	.	.	.	.	.	.	.	.	.	.	C	17.27	3.347564	0.61183	.	.	ENSG00000174827	ENST00000417171;ENST00000451928;ENST00000344770	T;T;T	0.33865	1.39;1.47;1.39	5.38	5.38	0.77491	PDZ/DHR/GLGF (1);	0.559977	0.17151	N	0.185064	T	0.34861	0.0912	L	0.55103	1.725	0.38001	D	0.934224	B;D	0.52996	0.091;0.957	B;P	0.58454	0.046;0.839	T	0.11036	-1.0604	10	0.07325	T	0.83	.	16.6078	0.84835	0.0:1.0:0.0:0.0	.	237;348	E7EU02;Q5T2W1	.;NHRF3_HUMAN	Y	348;237;348	ENSP00000394485:S348Y;ENSP00000403422:S237Y;ENSP00000342143:S348Y	ENSP00000342143:S348Y	S	+	2	0	PDZK1	144472587	0.954000	0.32549	0.999000	0.59377	0.982000	0.71751	4.539000	0.60657	2.536000	0.85505	0.585000	0.79938	TCT		0.423	PDZK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038502.2	NM_002614		22	67	1	0	7.04e-22	7.57e-22	22	67				
HIST2H3D	653604	broad.mit.edu	37	1	149784945	149784945	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr1:149784945C>T	ENST00000331491.1	-	1	291	c.292G>A	c.(292-294)Gag>Aag	p.E98K	HIST2H2BF_ENST00000469483.1_5'Flank|HIST2H2BF_ENST00000427880.2_5'Flank|RP11-196G18.21_ENST00000420462.1_RNA|HIST2H2BF_ENST00000369167.1_5'Flank|HIST2H2BF_ENST00000545683.1_5'Flank	NM_001123375.2	NP_001116847.1	Q71DI3	H32_HUMAN	histone cluster 2, H3d	98					blood coagulation (GO:0007596)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			biliary_tract(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(3)	7						AGGTAGGCCTCGCTGGCCTCC	0.642																																						uc010pbl.1		NA																	0					0						c.(292-294)GAG>AAG		histone cluster 2, H3d							21.0	24.0	23.0					1																	149784945		1559	3540	5099	SO:0001583	missense	653604				blood coagulation|nucleosome assembly	nucleoplasm|nucleosome	DNA binding|protein binding	g.chr1:149784945C>T	AL591493	CCDS41388.1	1q21.2	2012-03-08	2006-10-11		ENSG00000183598	ENSG00000183598		"""Histones / Replication-dependent"""	25311	protein-coding gene	gene with protein product			"""histone 2, H3d"""				Standard	NM_001123375		Approved		uc010pbl.2	Q71DI3	OTTHUMG00000012092	ENST00000331491.1:c.292G>A	1.37:g.149784945C>T	ENSP00000333277:p.Glu98Lys					HIST2H2BF_uc010pbj.1_5'Flank|HIST2H2BF_uc010pbk.1_5'Flank|HIST2H2BF_uc001esr.2_5'Flank	p.E98K	NM_001123375	NP_001116847	Q71DI3	H32_HUMAN			1	292	-			98					A2BDF6|A6NFS4|Q6B053	Missense_Mutation	SNP	ENST00000331491.1	37	c.292G>A	CCDS41388.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.989458	0.74589	.	.	ENSG00000183598	ENST00000331491	T	0.77489	-1.1	4.1	3.18	0.36537	.	0.000000	0.53938	U	0.000046	T	0.77452	0.4132	.	.	.	0.53005	D	0.999969	.	.	.	.	.	.	T	0.80365	-0.1413	7	0.87932	D	0	.	10.8541	0.46789	0.0:0.9049:0.0:0.0951	.	.	.	.	K	98	ENSP00000333277:E98K	ENSP00000333277:E98K	E	-	1	0	HIST2H3D	148051569	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.337000	0.52120	1.080000	0.41073	0.436000	0.28706	GAG		0.642	HIST2H3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033452.1	NM_001123375		14	50	0	0	0	0	14	50				
RFX5	5993	broad.mit.edu	37	1	151317305	151317305	+	Silent	SNP	C	C	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr1:151317305C>A	ENST00000290524.4	-	6	430	c.252G>T	c.(250-252)ctG>ctT	p.L84L	RFX5_ENST00000368870.2_Silent_p.L84L|RP11-126K1.8_ENST00000422153.1_RNA|RFX5_ENST00000478564.1_5'UTR|RP11-126K1.6_ENST00000455503.1_RNA|RFX5_ENST00000452513.2_Intron|RFX5_ENST00000452671.2_Silent_p.L84L	NM_000449.3|NM_001025603.1	NP_000440.1|NP_001020774.1	P48382	RFX5_HUMAN	regulatory factor X, 5 (influences HLA class II expression)	84	N-terminal domain.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	20	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			CCTCATTGCTCAGTGTACTTG	0.463																																						uc001exv.1		NA																	0				ovary(1)	1						c.(250-252)CTG>CTT		regulatory factor X, 5							98.0	80.0	86.0					1																	151317305		2203	4300	6503	SO:0001819	synonymous_variant	5993					nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr1:151317305C>A		CCDS994.1	1q21	2014-09-17			ENSG00000143390	ENSG00000143390			9986	protein-coding gene	gene with protein product		601863				9401005	Standard	XM_005245405		Approved		uc001exw.1	P48382	OTTHUMG00000012495	ENST00000290524.4:c.252G>T	1.37:g.151317305C>A						RFX5_uc001exw.1_Silent_p.L84L|RFX5_uc009wmr.1_Silent_p.L84L|RFX5_uc010pcx.1_Intron	p.L84L	NM_001025603	NP_001020774	P48382	RFX5_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)		6	466	-	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		84			N-terminal domain.		B7Z848|D3DV19|E9PFU4|Q5VWC3	Silent	SNP	ENST00000290524.4	37	c.252G>T	CCDS994.1																																																																																				0.463	RFX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034892.6	NM_000449		8	59	1	0	7.48e-07	7.79e-07	8	59				
TCHH	7062	broad.mit.edu	37	1	152079998	152079998	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr1:152079998C>T	ENST00000368804.1	-	2	5694	c.5695G>A	c.(5695-5697)Ggg>Agg	p.G1899R		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	1899					keratinization (GO:0031424)	cytoskeleton (GO:0005856)	calcium ion binding (GO:0005509)			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTTATCTCCCCGACTTGGCGG	0.582																																						uc001ezp.2		NA																	0				ovary(3)|kidney(1)|central_nervous_system(1)	5						c.(5695-5697)GGG>AGG		trichohyalin							147.0	147.0	147.0					1																	152079998		1966	4146	6112	SO:0001583	missense	7062				keratinization	cytoskeleton	calcium ion binding	g.chr1:152079998C>T	L09190	CCDS41396.1	1q21-q23	2013-01-10		2006-01-27	ENSG00000159450	ENSG00000159450		"""EF-hand domain containing"""	11791	protein-coding gene	gene with protein product		190370		THH		1431214	Standard	NM_007113		Approved		uc001ezp.3	Q07283	OTTHUMG00000013066	ENST00000368804.1:c.5695G>A	1.37:g.152079998C>T	ENSP00000357794:p.Gly1899Arg					TCHH_uc009wne.1_Missense_Mutation_p.G1899R	p.G1899R	NM_007113	NP_009044	Q07283	TRHY_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	5695	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1899					Q5VUI3	Missense_Mutation	SNP	ENST00000368804.1	37	c.5695G>A	CCDS41396.1	.	.	.	.	.	.	.	.	.	.	c	0.105	-1.145919	0.01714	.	.	ENSG00000159450	ENST00000368804	T	0.04551	3.6	4.14	1.08	0.20341	.	.	.	.	.	T	0.00580	0.0019	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.46005	-0.9222	9	0.23891	T	0.37	-0.4456	4.015	0.09639	0.2607:0.3918:0.3475:0.0	.	1899	Q07283	TRHY_HUMAN	R	1899	ENSP00000357794:G1899R	ENSP00000357794:G1899R	G	-	1	0	TCHH	150346622	0.000000	0.05858	0.028000	0.17463	0.038000	0.13279	-0.126000	0.10563	-0.086000	0.12550	-0.725000	0.03595	GGG		0.582	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036671.2	NM_007113		27	105	0	0	0	0	27	105				
FLG	2312	broad.mit.edu	37	1	152282518	152282518	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr1:152282518G>A	ENST00000368799.1	-	3	4879	c.4844C>T	c.(4843-4845)tCc>tTc	p.S1615F	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1615	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)			ATGGTTTCTGGAAGCCGACTC	0.572									Ichthyosis																													uc001ezu.1		NA																	0				ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16						c.(4843-4845)TCC>TTC		filaggrin							118.0	130.0	126.0					1																	152282518		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.chr1:152282518G>A	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.4844C>T	1.37:g.152282518G>A	ENSP00000357789:p.Ser1615Phe						p.S1615F	NM_002016	NP_002007	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	4880	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1615			Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.4844C>T	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	G	8.087	0.773764	0.16051	.	.	ENSG00000143631	ENST00000368799	T	0.03801	3.8	2.69	1.73	0.24493	.	.	.	.	.	T	0.02727	0.0082	M	0.76574	2.34	0.09310	N	1	P	0.47841	0.901	B	0.41571	0.36	T	0.37619	-0.9698	9	0.56958	D	0.05	.	5.9501	0.19242	0.1524:0.0:0.8476:0.0	.	1615	P20930	FILA_HUMAN	F	1615	ENSP00000357789:S1615F	ENSP00000357789:S1615F	S	-	2	0	FLG	150549142	0.000000	0.05858	0.001000	0.08648	0.041000	0.13682	0.032000	0.13732	0.658000	0.30925	0.485000	0.47835	TCC		0.572	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		57	147	0	0	0	0	57	147				
KPRP	448834	broad.mit.edu	37	1	152733229	152733229	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr1:152733229G>C	ENST00000606109.1	+	1	1193	c.1165G>C	c.(1165-1167)Gac>Cac	p.D389H	KPRP_ENST00000368773.1_Missense_Mutation_p.D389H			Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein	389	Pro-rich.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			ACGGCGTCTTGACCAGTGTCC	0.647																																						uc001fal.1		NA																	0				ovary(4)|pancreas(1)	5						c.(1165-1167)GAC>CAC		keratinocyte proline-rich protein							125.0	121.0	122.0					1																	152733229		2203	4300	6503	SO:0001583	missense	448834					cytoplasm		g.chr1:152733229G>C	AY960854	CCDS30862.1	1q21.3	2008-02-05	2007-02-02	2006-12-07	ENSG00000203786	ENSG00000203786			31823	protein-coding gene	gene with protein product		613260	"""chromosome 1 open reading frame 45"""	C1orf45		16297201	Standard	NM_001025231		Approved		uc001fal.1	Q5T749	OTTHUMG00000012402	ENST00000606109.1:c.1165G>C	1.37:g.152733229G>C	ENSP00000475216:p.Asp389His						p.D389H	NM_001025231	NP_001020402	Q5T749	KPRP_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	1223	+	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		389			Pro-rich.			Missense_Mutation	SNP	ENST00000606109.1	37	c.1165G>C	CCDS30862.1	.	.	.	.	.	.	.	.	.	.	G	11.26	1.584972	0.28268	.	.	ENSG00000203786	ENST00000368773	T	0.15834	2.39	3.92	2.96	0.34315	.	0.260033	0.27677	N	0.018315	T	0.08537	0.0212	L	0.34521	1.04	0.26124	N	0.980504	P	0.49090	0.919	P	0.47402	0.546	T	0.04551	-1.0943	10	0.87932	D	0	-6.9726	11.548	0.50704	0.0:0.1832:0.8168:0.0	.	389	Q5T749	KPRP_HUMAN	H	389	ENSP00000357762:D389H	ENSP00000357762:D389H	D	+	1	0	KPRP	150999853	0.000000	0.05858	0.258000	0.24420	0.230000	0.25150	0.529000	0.23019	1.159000	0.42565	0.462000	0.41574	GAC		0.647	KPRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034522.2	NM_001025231		15	31	0	0	0	0	15	31				
S100A2	6273	broad.mit.edu	37	1	153533966	153533966	+	Silent	SNP	G	G	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr1:153533966G>A	ENST00000368708.3	-	3	615	c.243C>T	c.(241-243)ctC>ctT	p.L81L	S100A2_ENST00000368710.1_Silent_p.L81L|S100A2_ENST00000497140.1_Silent_p.L48L|S100A2_ENST00000487430.2_Silent_p.L81L|S100A2_ENST00000368707.4_3'UTR|S100A2_ENST00000368709.1_Silent_p.L81L	NM_005978.3	NP_005969.1	P29034	S10A2_HUMAN	S100 calcium binding protein A2	82	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				endothelial cell migration (GO:0043542)		calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)			endometrium(1)|large_intestine(2)|lung(1)|ovary(1)	5	all_lung(78;5.98e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)		Olopatadine(DB00768)	TGACAGTGATGAGTGCCAGGA	0.542																																						uc001fcb.2		NA																	0				ovary(1)	1						c.(241-243)CTC>CTT		S100 calcium binding protein A2							224.0	211.0	215.0					1																	153533966		2203	4300	6503	SO:0001819	synonymous_variant	6273				endothelial cell migration		calcium ion binding	g.chr1:153533966G>A	BC002829	CCDS1044.1	1q21	2013-01-10	2001-11-28		ENSG00000196754	ENSG00000196754		"""S100 calcium binding proteins"", ""EF-hand domain containing"""	10492	protein-coding gene	gene with protein product		176993	"""S100 calcium-binding protein A2"""	S100L		8341667	Standard	NM_005978		Approved	CAN19	uc001fcb.3	P29034	OTTHUMG00000035031	ENST00000368708.3:c.243C>T	1.37:g.153533966G>A							p.L81L	NM_005978	NP_005969	P29034	S10A2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		3	581	-	all_lung(78;5.98e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		82			EF-hand 2.		O00266|Q3KRB9|Q5RHS8|Q9BU83	Silent	SNP	ENST00000368708.3	37	c.243C>T	CCDS1044.1																																																																																				0.542	S100A2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084789.1	NM_005978		4	184	0	0	0	0	4	184				
ZBTB7B	51043	broad.mit.edu	37	1	154988249	154988249	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr1:154988249G>C	ENST00000368426.3	+	3	1250	c.1113G>C	c.(1111-1113)gaG>gaC	p.E371D	ZBTB7B_ENST00000417934.2_Missense_Mutation_p.E405D|ZBTB7B_ENST00000292176.2_Missense_Mutation_p.E371D|ZBTB7B_ENST00000535420.1_Missense_Mutation_p.E371D	NM_001256455.1	NP_001243384.1	O15156	ZBT7B_HUMAN	zinc finger and BTB domain containing 7B	371					cell differentiation (GO:0030154)|ectoderm development (GO:0007398)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)	29	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)			ACACAGGCGAGAAGCCCTTTG	0.647																																						uc001fgk.3		NA																	0					0						c.(1111-1113)GAG>GAC		zinc finger and BTB domain containing 7B							45.0	51.0	49.0					1																	154988249		2203	4300	6503	SO:0001583	missense	51043				cell differentiation|ectoderm development|multicellular organismal development|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding	g.chr1:154988249G>C	AF007833	CCDS1081.1, CCDS58030.1	1q21.2	2013-01-08		2005-04-07	ENSG00000160685	ENSG00000160685		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	18668	protein-coding gene	gene with protein product	"""zinc finger and BTB domain containing 15"""	607646	"""zinc finger protein 67 homolog (mouse)"""	ZFP67		9370309, 7937772	Standard	NR_045515		Approved	ZBTB15, c-Krox, hcKrox, ZNF857B	uc010peq.3	O15156	OTTHUMG00000037414	ENST00000368426.3:c.1113G>C	1.37:g.154988249G>C	ENSP00000357411:p.Glu371Asp					ZBTB7B_uc009wpa.2_Missense_Mutation_p.E371D|ZBTB7B_uc001fgj.3_Missense_Mutation_p.E405D|ZBTB7B_uc010peq.1_Missense_Mutation_p.E405D|ZBTB7B_uc001fgl.3_Missense_Mutation_p.E371D	p.E371D	NM_015872	NP_056956	O15156	ZBT7B_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.00034)		3	1271	+	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		371					B4E3K5|D3DV83|J3KQQ3|Q68DR2|Q96EP2	Missense_Mutation	SNP	ENST00000368426.3	37	c.1113G>C	CCDS1081.1	.	.	.	.	.	.	.	.	.	.	g	17.78	3.473622	0.63737	.	.	ENSG00000160685	ENST00000535420;ENST00000368426;ENST00000417934;ENST00000292176	T;T;T;T	0.26810	1.71;1.71;1.71;1.71	3.94	3.02	0.34903	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.24198	0.0586	L	0.36672	1.1	0.39530	D	0.968646	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.81914	0.995;0.995;0.995	T	0.02868	-1.1100	10	0.52906	T	0.07	.	9.1233	0.36799	0.1101:0.0:0.8899:0.0	.	371;371;405	A8K6F4;O15156;B4E3K5	.;ZBT7B_HUMAN;.	D	371;371;405;371	ENSP00000438647:E371D;ENSP00000357411:E371D;ENSP00000406286:E405D;ENSP00000292176:E371D	ENSP00000292176:E371D	E	+	3	2	ZBTB7B	153254873	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	4.660000	0.61511	0.852000	0.35287	0.462000	0.41574	GAG		0.647	ZBTB7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091083.1	NM_015872		10	52	0	0	0	0	10	52				
ADAM15	8751	broad.mit.edu	37	1	155026830	155026830	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr1:155026830G>C	ENST00000356955.2	+	6	561	c.460G>C	c.(460-462)Gag>Cag	p.E154Q	ADAM15_ENST00000355956.2_Missense_Mutation_p.E154Q|ADAM15_ENST00000368410.2_Intron|ADAM15_ENST00000360674.4_Missense_Mutation_p.E154Q|ADAM15_ENST00000368413.1_Intron|ADAM15_ENST00000531455.1_Missense_Mutation_p.E164Q|ADAM15_ENST00000359280.4_Missense_Mutation_p.E154Q|ADAM15_ENST00000447332.3_Missense_Mutation_p.E138Q|ADAM15_ENST00000271836.6_Missense_Mutation_p.E154Q|ADAM15_ENST00000472434.1_3'UTR|ADAM15_ENST00000368412.3_Missense_Mutation_p.E154Q|ADAM15_ENST00000449910.2_Missense_Mutation_p.E154Q	NM_207197.2	NP_997080.1	Q13444	ADA15_HUMAN	ADAM metallopeptidase domain 15	154					angiogenesis (GO:0001525)|cardiac epithelial to mesenchymal transition (GO:0060317)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of receptor binding (GO:1900121)|protein kinase C signaling (GO:0070528)|tissue regeneration (GO:0042246)	cell junction (GO:0030054)|cell projection (GO:0042995)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(5)|urinary_tract(1)	39	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			CTATACCCTGGAGCAGGGGCC	0.547																																						uc001fgr.1		NA																	0				central_nervous_system(3)|skin(2)|ovary(1)	6						c.(460-462)GAG>CAG		a disintegrin and metalloproteinase domain 15							51.0	59.0	56.0					1																	155026830		2203	4300	6503	SO:0001583	missense	8751				angiogenesis|cell-matrix adhesion|collagen catabolic process|proteolysis	acrosomal vesicle|adherens junction|endomembrane system|flagellum|integral to membrane	metalloendopeptidase activity|SH3 domain binding|zinc ion binding	g.chr1:155026830G>C	U46005	CCDS1084.1, CCDS1085.1, CCDS1086.1, CCDS1087.1, CCDS1088.1, CCDS44236.1, CCDS58031.1, CCDS58032.1, CCDS60282.1	1q21.3	2008-02-05	2007-06-04		ENSG00000143537	ENSG00000143537		"""ADAM metallopeptidase domain containing"""	193	protein-coding gene	gene with protein product	"""metargidin"""	605548	"""a disintegrin and metalloproteinase domain 15 (metargidin)"""			9516430	Standard	NM_003815		Approved	MDC15	uc001fgr.2	Q13444	OTTHUMG00000013898	ENST00000356955.2:c.460G>C	1.37:g.155026830G>C	ENSP00000349436:p.Glu154Gln					ADAM15_uc001fgq.1_5'UTR|ADAM15_uc009wpc.1_RNA|ADAM15_uc010pet.1_Missense_Mutation_p.E138Q|ADAM15_uc010peu.1_Missense_Mutation_p.E171Q|ADAM15_uc001fgt.1_Missense_Mutation_p.E154Q|ADAM15_uc010pev.1_Missense_Mutation_p.E164Q|ADAM15_uc001fgs.1_Missense_Mutation_p.E154Q|ADAM15_uc001fgu.1_Missense_Mutation_p.E154Q|ADAM15_uc001fgw.1_Missense_Mutation_p.E154Q|ADAM15_uc001fgv.1_Missense_Mutation_p.E154Q|ADAM15_uc001fgx.1_Missense_Mutation_p.E154Q|ADAM15_uc001fgz.1_RNA|ADAM15_uc001fgy.1_RNA|ADAM15_uc001fha.1_RNA	p.E154Q	NM_207197	NP_997080	Q13444	ADA15_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.000434)		6	561	+	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		154					B3KQU5|B4DLB5|B4DMH8|E9PN65|Q13493|Q53XQ0|Q5SR68|Q5SR69|Q6R267|Q71S61|Q71S62|Q71S63|Q71S64|Q71S65|Q71S66|Q71S67|Q71S68|Q71S69|Q96C78|U3KQL5	Missense_Mutation	SNP	ENST00000356955.2	37	c.460G>C	CCDS1087.1	.	.	.	.	.	.	.	.	.	.	G	12.11	1.840645	0.32513	.	.	ENSG00000143537	ENST00000356955;ENST00000449910;ENST00000359280;ENST00000360674;ENST00000368412;ENST00000355956;ENST00000271836;ENST00000531455	T;T;T;T;T;T;T;T	0.09911	2.93;2.93;2.93;2.93;2.93;2.93;2.93;2.93	5.09	5.09	0.68999	Peptidase M12B, propeptide (1);	0.304229	0.23587	N	0.046585	T	0.22781	0.0550	M	0.73962	2.25	0.80722	D	1	B;B;B;D;P;B;B;B;P;D	0.61080	0.201;0.201;0.201;0.987;0.848;0.167;0.167;0.167;0.955;0.989	B;B;B;D;P;B;B;B;P;D	0.66979	0.2;0.2;0.2;0.936;0.772;0.127;0.127;0.127;0.898;0.948	T	0.00239	-1.1888	10	0.56958	D	0.05	.	13.8551	0.63522	0.0:0.0:1.0:0.0	.	164;171;138;154;154;154;154;154;154;154	E9PN65;B7Z390;B4DMH8;Q13444-10;Q13444-2;Q13444-4;Q13444-5;Q13444-3;Q13444-9;Q13444	.;.;.;.;.;.;.;.;.;ADA15_HUMAN	Q	154;154;154;154;154;154;154;164	ENSP00000349436:E154Q;ENSP00000403843:E154Q;ENSP00000352226:E154Q;ENSP00000353892:E154Q;ENSP00000357397:E154Q;ENSP00000348227:E154Q;ENSP00000271836:E154Q;ENSP00000432927:E164Q	ENSP00000271836:E154Q	E	+	1	0	ADAM15	153293454	1.000000	0.71417	0.945000	0.38365	0.127000	0.20565	5.023000	0.64084	2.651000	0.90000	0.561000	0.74099	GAG		0.547	ADAM15-019	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387168.1	NM_003815		24	87	0	0	0	0	24	87				
FDPS	2224	broad.mit.edu	37	1	155279943	155279943	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr1:155279943G>A	ENST00000356657.6	+	3	448	c.286G>A	c.(286-288)Gag>Aag	p.E96K	FDPS_ENST00000447866.1_Missense_Mutation_p.E30K|FDPS_ENST00000368356.4_Missense_Mutation_p.E96K|FDPS_ENST00000487002.1_3'UTR	NM_001135821.1	NP_001129293.1	P14324	FPPS_HUMAN	farnesyl diphosphate synthase	96					cholesterol biosynthetic process (GO:0006695)|farnesyl diphosphate biosynthetic process (GO:0045337)|geranyl diphosphate biosynthetic process (GO:0033384)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	dimethylallyltranstransferase activity (GO:0004161)|geranyltranstransferase activity (GO:0004337)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	10	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;2.03e-10)|all cancers(21;5.23e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)		Alendronate(DB00630)|Ibandronate(DB00710)|Pamidronate(DB00282)|Risedronate(DB00884)|Zoledronate(DB00399)	GGTGCTGACTGAGGATGAGAT	0.512																																						uc001fkc.2		NA																	0					0						c.(286-288)GAG>AAG		farnesyl diphosphate synthase isoform a	Alendronate(DB00630)|Ibandronate(DB00710)|Pamidronate(DB00282)|Risedronate(DB00884)|Zoledronate(DB00399)						67.0	67.0	67.0					1																	155279943		2203	4300	6503	SO:0001583	missense	2224				cholesterol biosynthetic process|interspecies interaction between organisms|isoprenoid biosynthetic process	cytosol|nucleus	dimethylallyltranstransferase activity|geranyltranstransferase activity|metal ion binding	g.chr1:155279943G>A	J05262	CCDS1110.1, CCDS44241.1, CCDS72940.1	1q22	2012-07-13	2010-06-24		ENSG00000160752	ENSG00000160752	2.5.1.1, 2.5.1.10		3631	protein-coding gene	gene with protein product	"""farnesyl pyrophosphate synthetase, dimethylallyltranstransferase, geranyltranstransferase"""	134629				1968462	Standard	NM_002004		Approved		uc001fkc.2	P14324	OTTHUMG00000013909	ENST00000356657.6:c.286G>A	1.37:g.155279943G>A	ENSP00000349078:p.Glu96Lys					RAG1AP1_uc010pey.1_Intron|FDPS_uc001fkd.2_Missense_Mutation_p.E30K|FDPS_uc001fke.2_Missense_Mutation_p.E96K|FDPS_uc001fkf.2_Missense_Mutation_p.E30K	p.E96K	NM_002004	NP_001995	P14324	FPPS_HUMAN	Epithelial(20;2.03e-10)|all cancers(21;5.23e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)		3	505	+	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		96					D3DV91|E9PCI9|Q96G29	Missense_Mutation	SNP	ENST00000356657.6	37	c.286G>A	CCDS1110.1	.	.	.	.	.	.	.	.	.	.	G	16.23	3.063699	0.55432	.	.	ENSG00000160752	ENST00000447866;ENST00000368356;ENST00000356657	T;T;T	0.63913	-0.07;-0.07;-0.07	4.08	4.08	0.47627	Terpenoid synthase (2);	0.000000	0.36234	N	0.002706	T	0.44808	0.1311	L	0.59436	1.845	0.37511	D	0.917131	B	0.10296	0.003	B	0.08055	0.003	T	0.52593	-0.8555	10	0.48119	T	0.1	-26.4169	13.6517	0.62314	0.0:0.0:1.0:0.0	.	96	P14324	FPPS_HUMAN	K	30;96;96	ENSP00000391755:E30K;ENSP00000357340:E96K;ENSP00000349078:E96K	ENSP00000349078:E96K	E	+	1	0	FDPS	153546567	0.996000	0.38824	0.941000	0.38009	0.943000	0.58893	4.030000	0.57260	2.254000	0.74563	0.591000	0.81541	GAG		0.512	FDPS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039053.1	NM_002004		18	64	0	0	0	0	18	64				
YY1AP1	55249	broad.mit.edu	37	1	155629559	155629559	+	Silent	SNP	C	C	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr1:155629559C>T	ENST00000295566.4	-	11	2303	c.2280G>A	c.(2278-2280)ccG>ccA	p.P760P	YY1AP1_ENST00000361831.5_Silent_p.P703P|MSTO1_ENST00000452804.2_Intron|MSTO1_ENST00000538143.1_Intron|YY1AP1_ENST00000347088.5_Silent_p.P714P|YY1AP1_ENST00000311573.5_Silent_p.P683P|YY1AP1_ENST00000355499.4_Silent_p.P714P|YY1AP1_ENST00000407221.1_Silent_p.P683P|YY1AP1_ENST00000359205.5_Silent_p.P703P|YY1AP1_ENST00000404643.1_Silent_p.P694P|YY1AP1_ENST00000535662.1_Silent_p.P560P|YY1AP1_ENST00000368330.2_Silent_p.P714P|YY1AP1_ENST00000368339.5_Silent_p.P852P|YY1AP1_ENST00000368340.5_Silent_p.P832P	NM_001198906.1|NM_139118.2	NP_001185835.1|NP_620829.1	Q9H869	YYAP1_HUMAN	YY1 associated protein 1	760					regulation of cell cycle (GO:0051726)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(7)|ovary(2)|skin(2)|urinary_tract(2)	31	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)					CCTGAGGGAGCGGCTCCAGAG	0.512																																						uc001fln.2		NA																	0				ovary(2)|skin(1)	3						c.(2278-2280)CCG>CCA		YY1-associated protein isoform 2							118.0	113.0	115.0					1																	155629559		2203	4300	6503	SO:0001819	synonymous_variant	55249				regulation of cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding	g.chr1:155629559C>T	BC008766	CCDS1115.1, CCDS1116.1, CCDS55643.1, CCDS55644.1, CCDS55645.1	1q22	2009-05-07			ENSG00000163374	ENSG00000163374			30935	protein-coding gene	gene with protein product		607860				11710830	Standard	NM_139119		Approved	YY1AP, HCCA2, YAP		Q9H869	OTTHUMG00000035437	ENST00000295566.4:c.2280G>A	1.37:g.155629559C>T						YY1AP1_uc001flg.2_Silent_p.P499P|YY1AP1_uc010pgg.1_Silent_p.P599P|YY1AP1_uc010pgh.1_Silent_p.P703P|YY1AP1_uc010pgi.1_Silent_p.P852P|YY1AP1_uc001flh.2_Silent_p.P832P|YY1AP1_uc009wqt.2_Silent_p.P683P|YY1AP1_uc001flk.2_Silent_p.P703P|YY1AP1_uc001fll.2_Silent_p.P714P|YY1AP1_uc009wqv.2_Silent_p.P431P|YY1AP1_uc001flm.2_Silent_p.P703P|YY1AP1_uc001fli.2_Silent_p.P714P|YY1AP1_uc009wqu.2_Silent_p.P547P|YY1AP1_uc001flj.2_Silent_p.P694P|YY1AP1_uc009wqw.2_Silent_p.P683P|YY1AP1_uc001flo.2_Silent_p.P648P|YY1AP1_uc001flp.2_Silent_p.P714P	p.P760P	NM_139118	NP_620829	Q9H869	YYAP1_HUMAN			11	2304	-	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)		760					B0QZ54|B4DMP2|B4E0I0|D3DV96|D3DV98|H7BY62|Q5VYZ1|Q5VYZ4|Q5VYZ7|Q7L4C3|Q7L5E2|Q8IXA6|Q8TEW5|Q8TF04|Q96HB6|Q9BQ64|Q9NV84	Silent	SNP	ENST00000295566.4	37	c.2280G>A	CCDS1115.1																																																																																				0.512	YY1AP1-043	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000086027.1	NM_139118		25	105	0	0	0	0	25	105				
IFI16	3428	broad.mit.edu	37	1	159015213	159015213	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr1:159015213C>T	ENST00000295809.7	+	8	1711	c.1456C>T	c.(1456-1458)Cag>Tag	p.Q486*	IFI16_ENST00000340979.6_Intron|IFI16_ENST00000368131.4_Nonsense_Mutation_p.Q486*|IFI16_ENST00000359709.3_Nonsense_Mutation_p.Q430*|IFI16_ENST00000368132.3_Intron|IFI16_ENST00000430894.2_Nonsense_Mutation_p.Q434*|IFI16_ENST00000448393.2_Intron			Q16666	IF16_HUMAN	interferon, gamma-inducible protein 16	486					activation of cysteine-type endopeptidase activity (GO:0097202)|activation of innate immune response (GO:0002218)|autophagy (GO:0006914)|cell proliferation (GO:0008283)|cellular response to glucose starvation (GO:0042149)|cellular response to ionizing radiation (GO:0071479)|defense response to virus (GO:0051607)|hemopoiesis (GO:0030097)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|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)|monocyte differentiation (GO:0030224)|myeloid cell differentiation (GO:0030099)|negative regulation of cysteine-type endopeptidase activity (GO:2000117)|negative regulation of DNA binding (GO:0043392)|negative regulation of innate immune response (GO:0045824)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral genome replication (GO:0045071)|positive regulation of cytokine production (GO:0001819)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of autophagy (GO:0010506)|regulation of gene expression, epigenetic (GO:0040029)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter binding (GO:0001047)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|transcription factor binding (GO:0008134)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0429)					CCACACTCCTCAGATGCCTCC	0.483																																						uc010pis.1		NA																	0				ovary(1)	1						c.(1288-1290)CAG>TAG		interferon, gamma-inducible protein 16							120.0	117.0	118.0					1																	159015213		2201	4276	6477	SO:0001587	stop_gained	3428				cell proliferation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|monocyte differentiation|negative regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent	cytoplasm|nuclear speck|nucleolus	double-stranded DNA binding|protein binding	g.chr1:159015213C>T	M63838	CCDS1180.3, CCDS58039.1	1q22	2008-02-05			ENSG00000163565	ENSG00000163565			5395	protein-coding gene	gene with protein product		147586				1526658, 7959953	Standard	NM_005531		Approved	IFNGIP1, PYHIN2	uc010pis.2	Q16666	OTTHUMG00000037108	ENST00000295809.7:c.1456C>T	1.37:g.159015213C>T	ENSP00000295809:p.Gln486*					IFI16_uc001ftg.2_Intron|IFI16_uc001fth.2_Intron|IFI16_uc010pit.1_Nonsense_Mutation_p.Q85*	p.Q430*	NM_005531	NP_005522	Q16666	IF16_HUMAN			7	1467	+	all_hematologic(112;0.0429)		486					B4DJT8|H3BLV7|Q59GX0|Q5T3W7|Q5T3W8|Q5T3X0|Q5T3X1|Q5T3X2|Q8N9E5|Q8NEQ7|Q96AJ5|Q9UH78	Nonsense_Mutation	SNP	ENST00000295809.7	37	c.1288C>T		.	.	.	.	.	.	.	.	.	.	c	25.1	4.607861	0.87258	.	.	ENSG00000163565	ENST00000295809;ENST00000368131;ENST00000430894	.	.	.	2.63	-0.638	0.11500	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.13108	T	0.6	.	2.2527	0.04047	0.2413:0.4378:0.0:0.3209	.	.	.	.	X	486;486;434	.	ENSP00000295809:Q486X	Q	+	1	0	IFI16	157281837	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.419000	0.07071	-0.150000	0.11195	-0.346000	0.07831	CAG		0.483	IFI16-013	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000421720.1	NM_005531		12	136	0	0	0	0	12	136				
LMX1A	4009	broad.mit.edu	37	1	165322354	165322354	+	Silent	SNP	G	G	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr1:165322354G>A	ENST00000342310.3	-	3	604	c.222C>T	c.(220-222)ttC>ttT	p.F74F	LMX1A_ENST00000367893.4_Silent_p.F74F|LMX1A_ENST00000294816.2_Silent_p.F74F	NM_177398.3	NP_796372.1	Q8TE12	LMX1A_HUMAN	LIM homeobox transcription factor 1, alpha	74	LIM zinc-binding 1. {ECO:0000255|PROSITE- ProRule:PRU00125}.				axon guidance (GO:0007411)|central nervous system neuron differentiation (GO:0021953)|cerebellum development (GO:0021549)|dentate gyrus development (GO:0021542)|dopaminergic neuron differentiation (GO:0071542)|midbrain development (GO:0030901)|negative regulation of neuron differentiation (GO:0045665)|regulation of cell growth (GO:0001558)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(2)|biliary_tract(1)|central_nervous_system(3)|cervix(2)|endometrium(4)|large_intestine(6)|lung(10)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)	35	all_hematologic(923;0.248)					TGTCCCGGTAGAAGCAGGTGG	0.602																																						uc001gcy.1		NA																	0				central_nervous_system(3)|upper_aerodigestive_tract(1)|pancreas(1)	5						c.(220-222)TTC>TTT		LIM homeobox transcription factor 1, alpha							89.0	91.0	90.0					1																	165322354		2203	4300	6503	SO:0001819	synonymous_variant	4009					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:165322354G>A	AY078391	CCDS1247.1	1q24.1	2011-06-20			ENSG00000162761	ENSG00000162761		"""Homeoboxes / LIM class"""	6653	protein-coding gene	gene with protein product		600298		LMX1		7698771	Standard	NM_177398		Approved	LMX1.1	uc001gcz.2	Q8TE12	OTTHUMG00000034575	ENST00000342310.3:c.222C>T	1.37:g.165322354G>A						LMX1A_uc001gcz.1_Silent_p.F74F	p.F74F	NM_177398	NP_796372	Q8TE12	LMX1A_HUMAN			2	443	-	all_hematologic(923;0.248)		74			LIM zinc-binding 1.		B3KXP6|Q0VDB5|Q5VWG4|Q8TE11	Silent	SNP	ENST00000342310.3	37	c.222C>T	CCDS1247.1																																																																																				0.602	LMX1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083668.2	NM_177398		16	91	0	0	0	0	16	91				
DNM3	26052	broad.mit.edu	37	1	172348233	172348233	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr1:172348233C>T	ENST00000355305.5	+	18	2144	c.1987C>T	c.(1987-1989)Cgc>Tgc	p.R663C	DNM3_ENST00000358155.4_Missense_Mutation_p.R657C|DNM3_ENST00000367731.1_Missense_Mutation_p.R653C			Q9UQ16	DYN3_HUMAN	dynamin 3	663	GED. {ECO:0000255|PROSITE- ProRule:PRU00720}.				endocytosis (GO:0006897)|filopodium assembly (GO:0046847)|GTP catabolic process (GO:0006184)|synapse assembly (GO:0007416)	dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(16)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						GGAGACCATTCGCAACCTCGT	0.383																																						uc001gie.2		NA																	0				breast(1)	1						c.(1969-1971)CGC>TGC		dynamin 3 isoform a							84.0	88.0	86.0					1																	172348233		2053	4223	6276	SO:0001583	missense	26052				endocytosis|filopodium assembly|synapse assembly	dendritic spine|microtubule|perinuclear region of cytoplasm|postsynaptic density	GTP binding|GTPase activity|protein binding	g.chr1:172348233C>T	AL136712	CCDS44276.1, CCDS60356.1	1q24.1	2013-01-10			ENSG00000197959	ENSG00000197959		"""Pleckstrin homology (PH) domain containing"""	29125	protein-coding gene	gene with protein product	"""Dyna III"""	611445				10048485	Standard	NM_015569		Approved	KIAA0820	uc001gie.4	Q9UQ16	OTTHUMG00000034913	ENST00000355305.5:c.1987C>T	1.37:g.172348233C>T	ENSP00000347457:p.Arg663Cys					DNM3_uc001gif.2_Missense_Mutation_p.R653C|DNM3_uc001gih.1_Missense_Mutation_p.R13C	p.R657C	NM_015569	NP_056384	Q9UQ16	DYN3_HUMAN			18	2145	+			663			GED.		A9Z1Y1|O14982|O95555|Q1MTM8|Q5W129|Q6P2G1|Q9H0P3|Q9H548|Q9NQ68|Q9NQN6	Missense_Mutation	SNP	ENST00000355305.5	37	c.1969C>T		.	.	.	.	.	.	.	.	.	.	C	19.89	3.911642	0.72983	.	.	ENSG00000197959	ENST00000359070;ENST00000358155;ENST00000355305;ENST00000367731;ENST00000485254	T;T;T;T	0.57273	0.41;0.41;0.41;0.41	5.15	5.15	0.70609	GTPase effector domain, GED (1);Dynamin GTPase effector (2);	0.000000	0.85682	D	0.000000	T	0.76608	0.4011	M	0.93763	3.455	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.76575	0.926;0.977;0.988	D	0.83575	0.0114	10	0.87932	D	0	.	17.1943	0.86888	0.0:1.0:0.0:0.0	.	663;653;657	Q9UQ16;Q9UQ16-2;Q9UQ16-3	DYN3_HUMAN;.;.	C	667;657;663;653;26	ENSP00000350876:R657C;ENSP00000347457:R663C;ENSP00000356705:R653C;ENSP00000429165:R26C	ENSP00000347457:R663C	R	+	1	0	DNM3	170614856	0.983000	0.35010	1.000000	0.80357	0.992000	0.81027	2.594000	0.46189	2.401000	0.81631	0.555000	0.69702	CGC		0.383	DNM3-003	NOVEL	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000084531.1	NM_015569		7	35	0	0	0	0	7	35				
TNN	63923	broad.mit.edu	37	1	175048789	175048789	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr1:175048789G>C	ENST00000239462.4	+	3	843	c.730G>C	c.(730-732)Gac>Cac	p.D244H		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	244	EGF-like 3.				axonogenesis (GO:0007409)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		CGGCTTCTGTGACACGGGCGA	0.662																																						uc001gkl.1		NA																	0				large_intestine(5)|ovary(3)|central_nervous_system(1)	9						c.(730-732)GAC>CAC		tenascin N precursor							20.0	15.0	17.0					1																	175048789		2165	4254	6419	SO:0001583	missense	63923				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix		g.chr1:175048789G>C	AK127044	CCDS30943.1	1q23-q24	2013-02-11			ENSG00000120332	ENSG00000120332		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	22942	protein-coding gene	gene with protein product							Standard	NM_022093		Approved		uc001gkl.1	Q9UQP3	OTTHUMG00000034882	ENST00000239462.4:c.730G>C	1.37:g.175048789G>C	ENSP00000239462:p.Asp244His					TNN_uc010pmx.1_Missense_Mutation_p.D244H	p.D244H	NM_022093	NP_071376	Q9UQP3	TENN_HUMAN		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)	3	843	+		Breast(1374;0.000962)	244			EGF-like 3.		B9EGP3|Q5R360	Missense_Mutation	SNP	ENST00000239462.4	37	c.730G>C	CCDS30943.1	.	.	.	.	.	.	.	.	.	.	G	19.58	3.853925	0.71719	.	.	ENSG00000120332	ENST00000239462;ENST00000539081	T	0.74106	-0.81	4.7	4.7	0.59300	EGF, extracellular (1);	0.058316	0.64402	D	0.000001	D	0.82820	0.5120	L	0.51422	1.61	0.46437	D	0.999042	D;D	0.76494	0.999;0.994	D;D	0.73708	0.981;0.958	D	0.84210	0.0455	10	0.56958	D	0.05	.	17.5932	0.88003	0.0:0.0:1.0:0.0	.	244;244	B3KXB6;Q9UQP3	.;TENN_HUMAN	H	244	ENSP00000239462:D244H	ENSP00000239462:D244H	D	+	1	0	TNN	173315412	0.780000	0.28664	1.000000	0.80357	0.986000	0.74619	3.665000	0.54532	2.321000	0.78463	0.491000	0.48974	GAC		0.662	TNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084422.1	XM_040527		3	15	0	0	0	0	3	15				
SOAT1	6646	broad.mit.edu	37	1	179311320	179311320	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr1:179311320G>C	ENST00000367619.3	+	8	995	c.852G>C	c.(850-852)gaG>gaC	p.E284D	SOAT1_ENST00000539888.1_Missense_Mutation_p.E219D|SOAT1_ENST00000535686.1_Missense_Mutation_p.E20D|SOAT1_ENST00000540564.1_Missense_Mutation_p.E226D	NM_003101.5	NP_003092.4	P35610	SOAT1_HUMAN	sterol O-acyltransferase 1	284					cholesterol efflux (GO:0033344)|cholesterol esterification (GO:0034435)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol storage (GO:0010878)|macrophage derived foam cell differentiation (GO:0010742)|positive regulation of amyloid precursor protein biosynthetic process (GO:0042986)|very-low-density lipoprotein particle assembly (GO:0034379)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	cholesterol binding (GO:0015485)|cholesterol O-acyltransferase activity (GO:0034736)|fatty-acyl-CoA binding (GO:0000062)|sterol O-acyltransferase activity (GO:0004772)			central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|stomach(1)	20					Ezetimibe(DB00973)|Hesperetin(DB01094)	CAGCTAAGGAGAAATCAAGTA	0.448																																						uc001gml.2		NA																	0				central_nervous_system(1)|skin(1)	2						c.(850-852)GAG>GAC		sterol O-acyltransferase 1	Ezetimibe(DB00973)|Hesperetin(DB01094)						137.0	135.0	136.0					1																	179311320		2203	4300	6503	SO:0001583	missense	6646				cholesterol efflux|cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|cholesterol storage|macrophage derived foam cell differentiation|positive regulation of amyloid precursor protein biosynthetic process|very-low-density lipoprotein particle assembly	endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol binding|cholesterol O-acyltransferase activity|fatty-acyl-CoA binding	g.chr1:179311320G>C	L21934	CCDS1330.1, CCDS58047.1, CCDS58048.1	1q25	2008-08-26	2008-08-26		ENSG00000057252	ENSG00000057252	2.3.1.26		11177	protein-coding gene	gene with protein product	"""acyl-Coenzyme A: cholesterol acyltransferase"""	102642	"""sterol O-acyltransferase (acyl-Coenzyme A: cholesterol acyltransferase) 1"""	SOAT, STAT		8407899	Standard	NM_003101		Approved	ACAT	uc001gml.3	P35610	OTTHUMG00000035253	ENST00000367619.3:c.852G>C	1.37:g.179311320G>C	ENSP00000356591:p.Glu284Asp					SOAT1_uc010pni.1_Missense_Mutation_p.E219D|SOAT1_uc001gmm.2_Missense_Mutation_p.E226D|SOAT1_uc010pnj.1_Missense_Mutation_p.E20D|SOAT1_uc010pnk.1_Missense_Mutation_p.E219D	p.E284D	NM_003101	NP_003092	P35610	SOAT1_HUMAN			8	915	+			284					A6NC40|A8K3P4|A9Z1V7|B4DU95|Q5T0X4|Q8N1E4	Missense_Mutation	SNP	ENST00000367619.3	37	c.852G>C	CCDS1330.1	.	.	.	.	.	.	.	.	.	.	G	11.90	1.777863	0.31502	.	.	ENSG00000057252	ENST00000539888;ENST00000540564;ENST00000535686;ENST00000367619	T;T;T;T	0.73789	2.37;2.37;-0.78;2.37	5.3	2.37	0.29283	.	0.365158	0.33875	N	0.004479	T	0.67739	0.2925	M	0.73962	2.25	0.36421	D	0.864313	B;B	0.06786	0.0;0.001	B;B	0.17979	0.002;0.02	T	0.60850	-0.7181	10	0.13470	T	0.59	0.2249	7.8627	0.29520	0.2704:0.0:0.7296:0.0	.	226;284	A8K3P4;P35610	.;SOAT1_HUMAN	D	219;226;20;284	ENSP00000441356:E219D;ENSP00000445315:E226D;ENSP00000442503:E20D;ENSP00000356591:E284D	ENSP00000356591:E284D	E	+	3	2	SOAT1	177577943	0.957000	0.32711	1.000000	0.80357	0.989000	0.77384	-0.033000	0.12246	0.725000	0.32318	0.650000	0.86243	GAG		0.448	SOAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085286.2	NM_003101		9	40	0	0	0	0	9	40				
CEP350	9857	broad.mit.edu	37	1	180080147	180080147	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr1:180080147G>C	ENST00000367607.3	+	38	9623	c.9205G>C	c.(9205-9207)Gag>Cag	p.E3069Q	CEP350_ENST00000490141.1_3'UTR	NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	3069					microtubule anchoring (GO:0034453)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						GGAGCTCCATGAGGAGGAGGC	0.413																																						uc001gnt.2		NA																	0				ovary(4)	4						c.(9205-9207)GAG>CAG		centrosome-associated protein 350							117.0	110.0	112.0					1																	180080147		2203	4300	6503	SO:0001583	missense	9857					centrosome|nucleus|spindle		g.chr1:180080147G>C	AF287356	CCDS1336.1	1q25.2	2014-02-20			ENSG00000135837	ENSG00000135837			24238	protein-coding gene	gene with protein product	"""centrosome associated protein 350"""					16314388, 15615782	Standard	NM_014810		Approved	KIAA0480, CAP350	uc001gnt.3	Q5VT06	OTTHUMG00000035269	ENST00000367607.3:c.9205G>C	1.37:g.180080147G>C	ENSP00000356579:p.Glu3069Gln					CEP350_uc009wxl.2_Missense_Mutation_p.E3068Q|CEP350_uc001gnv.2_Missense_Mutation_p.E1204Q|CEP350_uc001gnw.1_Missense_Mutation_p.E826Q|CEP350_uc001gnx.1_Missense_Mutation_p.E826Q	p.E3069Q	NM_014810	NP_055625	Q5VT06	CE350_HUMAN			38	9588	+			3069					O75068|Q8TDK3|Q8WY20	Missense_Mutation	SNP	ENST00000367607.3	37	c.9205G>C	CCDS1336.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	24.3|24.3	4.515549|4.515549	0.85389|0.85389	.|.	.|.	ENSG00000135837|ENSG00000135837	ENST00000367607;ENST00000417046|ENST00000429851	T|.	0.61627|.	0.09|.	6.05|6.05	6.05|6.05	0.98169|0.98169	.|.	0.000000|.	0.49305|.	D|.	0.000145|.	T|.	0.81772|.	0.4893|.	M|M	0.78801|0.78801	2.425|2.425	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	0.997;1.0|.	D;D|.	0.77557|.	0.986;0.99|.	T|.	0.80089|.	-0.1528|.	9|.	.|.	.|.	.|.	.|.	20.6013|20.6013	0.99457|0.99457	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	3069;3069|.	E7EU22;Q5VT06|.	.;CE350_HUMAN|.	Q|S	3069;533|1243	ENSP00000356579:E3069Q|.	.|.	E|X	+|+	1|2	0|2	CEP350|CEP350	178346770|178346770	1.000000|1.000000	0.71417|0.71417	0.600000|0.600000	0.28864|0.28864	0.995000|0.995000	0.86356|0.86356	9.471000|9.471000	0.97696|0.97696	2.878000|2.878000	0.98634|0.98634	0.650000|0.650000	0.86243|0.86243	GAG|TGA		0.413	CEP350-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085315.2	NM_014810		14	71	0	0	0	0	14	71				
NCF2	4688	broad.mit.edu	37	1	183543724	183543724	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr1:183543724C>G	ENST00000367535.3	-	4	650	c.399G>C	c.(397-399)aaG>aaC	p.K133N	NCF2_ENST00000367536.1_Missense_Mutation_p.K133N|NCF2_ENST00000418089.1_Intron|NCF2_ENST00000413720.1_Intron	NM_000433.3	NP_000424.2	P19878	NCF2_HUMAN	neutrophil cytosolic factor 2	133					aging (GO:0007568)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular defense response (GO:0006968)|cellular response to hormone stimulus (GO:0032870)|innate immune response (GO:0045087)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|positive regulation of blood pressure (GO:0045777)|positive regulation of neuron apoptotic process (GO:0043525)|respiratory burst (GO:0045730)|response to activity (GO:0014823)|response to drug (GO:0042493)|response to glucose (GO:0009749)|response to hyperoxia (GO:0055093)|response to laminar fluid shear stress (GO:0034616)|response to lipopolysaccharide (GO:0032496)|response to progesterone (GO:0032570)|superoxide anion generation (GO:0042554)|superoxide metabolic process (GO:0006801)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|NADPH oxidase complex (GO:0043020)|nucleolus (GO:0005730)|phagolysosome (GO:0032010)	electron carrier activity (GO:0009055)|protein C-terminus binding (GO:0008022)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30					Dextromethorphan(DB00514)	ATTCCTCCTTCTTGGCATACA	0.438																																						uc001gqj.3		NA																	0				ovary(3)	3						c.(397-399)AAG>AAC		neutrophil cytosolic factor 2							229.0	206.0	214.0					1																	183543724		2203	4300	6503	SO:0001583	missense	4688				cellular defense response|innate immune response|respiratory burst|superoxide anion generation	NADPH oxidase complex|nucleolus	electron carrier activity|protein C-terminus binding	g.chr1:183543724C>G	BC001606	CCDS1356.1, CCDS53446.1, CCDS53447.1	1q25	2014-09-17	2008-07-31		ENSG00000116701	ENSG00000116701		"""Tetratricopeptide (TTC) repeat domain containing"""	7661	protein-coding gene	gene with protein product	"""NADPH oxidase activator 2"", ""chronic granulomatous disease, autosomal 2"""	608515	"""neutrophil cytosolic factor 2 (65kD, chronic granulomatous disease, autosomal 2)"""				Standard	NM_000433		Approved	p67phox, NOXA2	uc001gqk.4	P19878	OTTHUMG00000035329	ENST00000367535.3:c.399G>C	1.37:g.183543724C>G	ENSP00000356505:p.Lys133Asn					NCF2_uc010pod.1_Intron|NCF2_uc010poe.1_Intron|NCF2_uc001gqk.3_Missense_Mutation_p.K133N	p.K133N	NM_000433	NP_000424	P19878	NCF2_HUMAN			4	674	-			133			TPR 3.		B2R6Q1|B4DKQ7|B4DQA7|E9PHJ2|E9PHX3|Q2PP06|Q8NFC7|Q9BV51	Missense_Mutation	SNP	ENST00000367535.3	37	c.399G>C	CCDS1356.1	.	.	.	.	.	.	.	.	.	.	C	15.70	2.911680	0.52439	.	.	ENSG00000116701	ENST00000367536;ENST00000392014;ENST00000367535	T;T	0.75154	-0.91;-0.91	5.32	4.33	0.51752	Tetratricopeptide-like helical (1);	0.323701	0.36932	N	0.002329	T	0.71434	0.3339	M	0.69823	2.125	0.80722	D	1	P	0.46621	0.881	P	0.44422	0.449	T	0.70579	-0.4833	10	0.42905	T	0.14	-12.5186	5.6451	0.17584	0.0:0.608:0.1421:0.2499	.	133	P19878	NCF2_HUMAN	N	133;161;133	ENSP00000356506:K133N;ENSP00000356505:K133N	ENSP00000356505:K133N	K	-	3	2	NCF2	181810347	0.959000	0.32827	1.000000	0.80357	0.998000	0.95712	0.059000	0.14322	1.223000	0.43536	0.655000	0.94253	AAG		0.438	NCF2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085483.1	NM_000433		27	79	0	0	0	0	27	79				
FAM129A	116496	broad.mit.edu	37	1	184787891	184787891	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr1:184787891C>G	ENST00000367511.3	-	9	1247	c.1054G>C	c.(1054-1056)Gag>Cag	p.E352Q	FAM129A_ENST00000487074.1_5'UTR|RNU7-13P_ENST00000516413.1_RNA	NM_052966.2	NP_443198.1	Q9BZQ8	NIBAN_HUMAN	family with sequence similarity 129, member A	352					negative regulation of protein phosphorylation (GO:0001933)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of translation (GO:0045727)|response to endoplasmic reticulum stress (GO:0034976)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	45						ATGAGCTCCTCCAGGATGGAT	0.527																																						uc001gra.2		NA																	0				ovary(3)|skin(1)	4						c.(1054-1056)GAG>CAG		niban protein isoform 2							162.0	160.0	161.0					1																	184787891		2203	4300	6503	SO:0001583	missense	116496				negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress	cytoplasm|nucleus|plasma membrane		g.chr1:184787891C>G	AF288391	CCDS1364.1	1q25	2008-10-08	2006-11-23	2006-11-23	ENSG00000135842	ENSG00000135842			16784	protein-coding gene	gene with protein product	"""cell growth inhibiting protein 39"""		"""chromosome 1 open reading frame 24"""	C1orf24		15085203, 16444351	Standard	NM_052966		Approved	NIBAN, GIG39	uc001gra.4	Q9BZQ8	OTTHUMG00000035388	ENST00000367511.3:c.1054G>C	1.37:g.184787891C>G	ENSP00000356481:p.Glu352Gln					FAM129A_uc001grb.1_Missense_Mutation_p.E115Q|FAM129A_uc009wyh.1_Missense_Mutation_p.E180Q|FAM129A_uc009wyi.1_Missense_Mutation_p.E150Q	p.E352Q	NM_052966	NP_443198	Q9BZQ8	NIBAN_HUMAN			9	1248	-			352					Q2TTR2|Q5TEM8|Q8TEI5|Q9H593|Q9H9Y8|Q9HCB9	Missense_Mutation	SNP	ENST00000367511.3	37	c.1054G>C	CCDS1364.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.631207	0.87660	.	.	ENSG00000135842	ENST00000367511	T	0.12879	2.64	4.86	4.86	0.63082	.	0.000000	0.85682	D	0.000000	T	0.38665	0.1049	M	0.75777	2.31	0.51233	D	0.999919	D	0.89917	1.0	D	0.87578	0.998	T	0.19095	-1.0316	10	0.56958	D	0.05	-25.6755	16.5243	0.84326	0.0:1.0:0.0:0.0	.	352	Q9BZQ8	NIBAN_HUMAN	Q	352	ENSP00000356481:E352Q	ENSP00000356481:E352Q	E	-	1	0	FAM129A	183054514	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	6.579000	0.74036	2.389000	0.81357	0.557000	0.71058	GAG		0.527	FAM129A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085786.1			28	189	0	0	0	0	28	189				
KCNT2	343450	broad.mit.edu	37	1	196395022	196395022	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr1:196395022G>C	ENST00000294725.9	-	11	1996	c.1081C>G	c.(1081-1083)Caa>Gaa	p.Q361E	KCNT2_ENST00000367431.4_Missense_Mutation_p.Q361E|KCNT2_ENST00000451324.2_Intron|KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000367433.5_Missense_Mutation_p.Q361E|KCNT2_ENST00000609185.1_Missense_Mutation_p.Q361E			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	361					potassium ion transmembrane transport (GO:0071805)	voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|calcium-activated potassium channel activity (GO:0015269)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						GCTGAACCTTGAAGGTAGATA	0.403																																						uc001gtd.1		NA																	0				ovary(5)|breast(1)|skin(1)	7						c.(1081-1083)CAA>GAA		potassium channel, subfamily T, member 2							174.0	157.0	162.0					1																	196395022		2203	4300	6503	SO:0001583	missense	343450					voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity	g.chr1:196395022G>C	BX647852, AY359444, AK127807	CCDS1384.1, CCDS72994.1, CCDS72995.1	1q31.3	2012-07-05			ENSG00000162687	ENSG00000162687		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	18866	protein-coding gene	gene with protein product	"""sodium and chloride activated ATP sensitive potassium channel"""	610044				16382103	Standard	NM_198503		Approved	KCa4.2, SLICK, SLO2.1	uc001gtd.1	Q6UVM3	OTTHUMG00000035611	ENST00000294725.9:c.1081C>G	1.37:g.196395022G>C	ENSP00000294725:p.Gln361Glu					KCNT2_uc009wyt.1_RNA|KCNT2_uc001gte.1_Missense_Mutation_p.Q361E|KCNT2_uc001gtf.1_Missense_Mutation_p.Q361E|KCNT2_uc001gtg.1_Intron|KCNT2_uc009wyu.2_Missense_Mutation_p.Q361E|KCNT2_uc009wyv.1_Missense_Mutation_p.Q336E	p.Q361E	NM_198503	NP_940905	Q6UVM3	KCNT2_HUMAN			11	1141	-			361			Cytoplasmic (Potential).		Q3SY59|Q5VTN1|Q6ZMT3	Missense_Mutation	SNP	ENST00000294725.9	37	c.1081C>G	CCDS1384.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.931609	0.73442	.	.	ENSG00000162687	ENST00000367433;ENST00000367431;ENST00000535608;ENST00000294725	T;T;T	0.69561	-0.41;-0.41;-0.41	5.64	5.64	0.86602	NAD(P)-binding domain (1);	0.000000	0.64402	D	0.000007	T	0.70237	0.3201	L	0.55481	1.735	0.80722	D	1	P;P;B;P	0.42785	0.79;0.737;0.298;0.79	P;B;B;P	0.44946	0.465;0.442;0.198;0.465	T	0.71017	-0.4714	10	0.52906	T	0.07	-19.2537	20.0769	0.97748	0.0:0.0:1.0:0.0	.	361;361;361;361	A9LNM6;Q6UVM3-2;Q6UVM3-3;Q6UVM3	.;.;.;KCNT2_HUMAN	E	361;361;182;361	ENSP00000356403:Q361E;ENSP00000356401:Q361E;ENSP00000294725:Q361E	ENSP00000294725:Q361E	Q	-	1	0	KCNT2	194661645	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.813000	0.99286	2.820000	0.97059	0.650000	0.86243	CAA		0.403	KCNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086418.2	NM_198503		29	59	0	0	0	0	29	59				
CAMSAP2	23271	broad.mit.edu	37	1	200801916	200801916	+	Silent	SNP	G	G	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr1:200801916G>A	ENST00000236925.4	+	7	952	c.903G>A	c.(901-903)ttG>ttA	p.L301L	CAMSAP2_ENST00000358823.2_Silent_p.L290L|CAMSAP2_ENST00000413307.2_Silent_p.L290L			Q08AD1	CAMP2_HUMAN	calmodulin regulated spectrin-associated protein family, member 2	301	CH.				microtubule cytoskeleton organization (GO:0000226)|regulation of organelle organization (GO:0033043)	cytoplasm (GO:0005737)|microtubule minus-end (GO:0036449)	microtubule minus-end binding (GO:0051011)										AAGAATACTTGAACCAGTGTT	0.323																																						uc001gvl.2		NA																	0				ovary(2)|large_intestine(1)|pancreas(1)	4						c.(901-903)TTG>TTA		calmodulin regulated spectrin-associated protein							91.0	96.0	94.0					1																	200801916		2202	4300	6502	SO:0001819	synonymous_variant	23271					cytoplasm|microtubule	protein binding	g.chr1:200801916G>A	AB029001	CCDS1404.1, CCDS72998.1, CCDS72999.1	1q32	2011-08-18	2011-08-18	2011-08-18	ENSG00000118200	ENSG00000118200			29188	protein-coding gene	gene with protein product		613775	"""calmodulin regulated spectrin-associated protein 1-like 1"""	CAMSAP1L1		15897902, 19508979	Standard	XM_005245040		Approved	KIAA1078	uc001gvk.3	Q08AD1	OTTHUMG00000035740	ENST00000236925.4:c.903G>A	1.37:g.200801916G>A						CAMSAP1L1_uc001gvk.2_Silent_p.L290L|CAMSAP1L1_uc001gvm.2_Silent_p.L290L	p.L301L	NM_203459	NP_982284	Q08AD1	CAMP2_HUMAN			7	1173	+			301			CH.		B1APG6|Q08AD2|Q6PGN8|Q96FB3|Q9UG20|Q9UPS4	Silent	SNP	ENST00000236925.4	37	c.903G>A																																																																																					0.323	CAMSAP2-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000086956.2	NM_203459		19	74	0	0	0	0	19	74				
IRF6	3664	broad.mit.edu	37	1	209969798	209969798	+	Missense_Mutation	SNP	C	C	G	rs121434224		TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr1:209969798C>G	ENST00000367021.3	-	4	446	c.274G>C	c.(274-276)Gaa>Caa	p.E92Q	IRF6_ENST00000542854.1_5'UTR	NM_006147.3	NP_006138.1	O14896	IRF6_HUMAN	interferon regulatory factor 6	92					cell cycle arrest (GO:0007050)|cell development (GO:0048468)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|keratinocyte differentiation (GO:0030216)|keratinocyte proliferation (GO:0043616)|mammary gland epithelial cell differentiation (GO:0060644)|negative regulation of cell proliferation (GO:0008285)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E92K(2)		cervix(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	28				OV - Ovarian serous cystadenocarcinoma(81;0.0351)		AGGTTGAATTCTCTGCTCTTA	0.532										HNSCC(57;0.16)																												uc001hhq.1		NA																	2	Substitution - Missense(2)		large_intestine(1)|prostate(1)	ovary(2)	2	GRCh37	CM022390	IRF6	M	rs121434224	c.(274-276)GAA>CAA		interferon regulatory factor 6							118.0	101.0	107.0					1																	209969798		2203	4300	6503	SO:0001583	missense	3664				cell cycle arrest|interferon-gamma-mediated signaling pathway|mammary gland epithelial cell differentiation|negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|type I interferon-mediated signaling pathway	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr1:209969798C>G	AL022398	CCDS1492.1, CCDS55681.1	1q32.2-q32.3	2011-02-10			ENSG00000117595	ENSG00000117595			6121	protein-coding gene	gene with protein product		607199	"""Van der Woude syndrome"""	VWS, LPS		12219090	Standard	NM_006147		Approved	OFC6, VWS1	uc001hhq.2	O14896	OTTHUMG00000036521	ENST00000367021.3:c.274G>C	1.37:g.209969798C>G	ENSP00000355988:p.Glu92Gln	HNSCC(57;0.16)				IRF6_uc010psm.1_5'UTR|IRF6_uc009xct.1_Missense_Mutation_p.E92Q	p.E92Q	NM_006147	NP_006138	O14896	IRF6_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0351)	4	537	-			92			IRF tryptophan pentad repeat.		B4DLE2|D3DT90|F5GWX8|G0ZTL0	Missense_Mutation	SNP	ENST00000367021.3	37	c.274G>C	CCDS1492.1	.	.	.	.	.	.	.	.	.	.	C	28.9	4.963026	0.92791	.	.	ENSG00000117595	ENST00000367021;ENST00000456314	D;D	0.97976	-4.64;-4.64	5.63	5.63	0.86233	Winged helix-turn-helix transcription repressor DNA-binding (1);Interferon regulatory factor DNA-binding domain (4);	0.000000	0.85682	D	0.000000	D	0.98836	0.9607	M	0.86028	2.79	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.99293	1.0899	9	.	.	.	.	19.7096	0.96089	0.0:1.0:0.0:0.0	.	92	O14896	IRF6_HUMAN	Q	92	ENSP00000355988:E92Q;ENSP00000403855:E92Q	.	E	-	1	0	IRF6	208036421	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.616000	0.67709	2.652000	0.90054	0.655000	0.94253	GAA		0.532	IRF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088827.1	NM_006147		21	41	0	0	0	0	21	41				
TATDN3	128387	broad.mit.edu	37	1	212977943	212977943	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr1:212977943T>C	ENST00000366974.4	+	7	531	c.437T>C	c.(436-438)gTg>gCg	p.V146A	TATDN3_ENST00000366973.4_Missense_Mutation_p.V146A|TATDN3_ENST00000525569.1_3'UTR|TATDN3_ENST00000526997.1_Missense_Mutation_p.V146A|TATDN3_ENST00000526641.1_Missense_Mutation_p.V125A|TATDN3_ENST00000532324.1_Missense_Mutation_p.V146A|TATDN3_ENST00000531963.1_Missense_Mutation_p.V146A	NM_001042552.2|NM_001042553.2|NM_001146169.1|NM_001146171.1	NP_001036017.1|NP_001036018.1|NP_001139641.1|NP_001139643.1	Q17R31	TATD3_HUMAN	TatD DNase domain containing 3	146					DNA catabolic process (GO:0006308)	intracellular organelle (GO:0043229)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	deoxyribonuclease activity (GO:0004536)|endodeoxyribonuclease activity, producing 5'-phosphomonoesters (GO:0016888)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(2)|lung(6)	9				OV - Ovarian serous cystadenocarcinoma(81;0.00699)|all cancers(67;0.0118)|GBM - Glioblastoma multiforme(131;0.0801)|Epithelial(68;0.104)		AACAGAAATGTGCACTCACGC	0.338																																						uc001hjo.2		NA																	0					0						c.(436-438)GTG>GCG		TatD DNase domain containing 3 isoform 1							93.0	81.0	85.0					1																	212977943		2203	4300	6503	SO:0001583	missense	128387					nucleus	endodeoxyribonuclease activity, producing 5'-phosphomonoesters|metal ion binding	g.chr1:212977943T>C	AL832248	CCDS31019.1, CCDS41465.1, CCDS53475.1, CCDS53476.1, CCDS53477.1	1q32.3	2008-02-05			ENSG00000203705	ENSG00000203705			27010	protein-coding gene	gene with protein product							Standard	NM_001042552		Approved		uc001hjo.2	Q17R31	OTTHUMG00000036805	ENST00000366974.4:c.437T>C	1.37:g.212977943T>C	ENSP00000355941:p.Val146Ala					TATDN3_uc010ptj.1_Missense_Mutation_p.V146A|TATDN3_uc010ptk.1_Missense_Mutation_p.V146A|TATDN3_uc001hjp.2_Missense_Mutation_p.V146A|TATDN3_uc010ptl.1_Missense_Mutation_p.V125A|TATDN3_uc010ptm.1_Missense_Mutation_p.V94A	p.V146A	NM_001042552	NP_001036017	Q17R31	TATD3_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00699)|all cancers(67;0.0118)|GBM - Glioblastoma multiforme(131;0.0801)|Epithelial(68;0.104)	7	531	+			146					A6NGS3|B7Z1C1|B7Z978|B7ZLQ6|E9PJE5|E9PNH3|G3V151|Q4G0L1	Missense_Mutation	SNP	ENST00000366974.4	37	c.437T>C	CCDS31019.1	.	.	.	.	.	.	.	.	.	.	T	27.5	4.835150	0.91117	.	.	ENSG00000203705	ENST00000532324;ENST00000366974;ENST00000526641;ENST00000531963;ENST00000366973;ENST00000526997;ENST00000530399	.	.	.	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	D	0.85544	0.5721	M	0.94063	3.49	0.80722	D	1	P;P;P;P;P;P	0.52061	0.873;0.811;0.938;0.95;0.938;0.95	P;P;P;D;P;P	0.64321	0.767;0.755;0.876;0.924;0.755;0.879	D	0.89272	0.3605	9	0.87932	D	0	-17.8399	15.6363	0.76958	0.0:0.0:0.0:1.0	.	94;125;146;146;146;146	B7Z2Z9;E9PNH3;G3V151;E9PJE5;Q17R31-2;Q17R31	.;.;.;.;.;TATD3_HUMAN	A	146;146;125;146;146;146;145	.	ENSP00000355940:V146A	V	+	2	0	TATDN3	211044566	1.000000	0.71417	0.998000	0.56505	0.985000	0.73830	7.287000	0.78681	2.178000	0.69098	0.455000	0.32223	GTG		0.338	TATDN3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000089396.2	XM_375838		6	39	0	0	0	0	6	39				
SPRTN	83932	broad.mit.edu	37	1	231489093	231489093	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr1:231489093G>A	ENST00000295050.7	+	5	1792	c.1456G>A	c.(1456-1458)Gaa>Aaa	p.E486K		NM_001010984.2|NM_032018.5	NP_001010984.1|NP_114407.3	Q9H040	SPRTN_HUMAN	SprT-like N-terminal domain	486					cellular response to DNA damage stimulus (GO:0006974)|positive regulation of protein ubiquitination (GO:0031398)|response to UV (GO:0009411)|translesion synthesis (GO:0019985)	chromosome (GO:0005694)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	DNA binding (GO:0003677)|K63-linked polyubiquitin binding (GO:0070530)|metal ion binding (GO:0046872)|ubiquitin binding (GO:0043130)										AGTCAAAAGCGAAGAAAGTCT	0.403																																						uc001hur.2		NA																	0					0						c.(1456-1458)GAA>AAA		hypothetical protein LOC83932 isoform a							33.0	34.0	33.0					1																	231489093		2202	4297	6499	SO:0001583	missense	83932				DNA repair	nuclear speck	DNA binding|metal ion binding	g.chr1:231489093G>A	AL512744	CCDS1594.1, CCDS31054.1, CCDS58066.1	1q42.12-q43	2013-01-30	2012-06-18	2012-06-18	ENSG00000010072	ENSG00000010072			25356	protein-coding gene	gene with protein product	"""SprT-like domain at the N terminus"", ""DNA damage-targeting VCP (p97) adaptor"""		"""chromosome 1 open reading frame 124"""	C1orf124		22681887	Standard	NM_032018		Approved	DKFZP547N043, Spartan, DVC1	uc001hur.4	Q9H040	OTTHUMG00000038022	ENST00000295050.7:c.1456G>A	1.37:g.231489093G>A	ENSP00000295050:p.Glu486Lys					C1orf124_uc001hus.2_3'UTR|C1orf124_uc001hut.2_3'UTR	p.E486K	NM_032018	NP_114407	Q9H040	CA124_HUMAN			5	1904	+	Breast(184;0.0871)	all_cancers(173;0.151)|Prostate(94;0.183)	486					B1AKT0|B5MEF7|Q5TE78|Q6UWW6|Q96BC5|Q96KA0	Missense_Mutation	SNP	ENST00000295050.7	37	c.1456G>A	CCDS1594.1	.	.	.	.	.	.	.	.	.	.	G	3.719	-0.057899	0.07317	.	.	ENSG00000010072	ENST00000295050	T	0.38722	1.12	2.49	-1.61	0.08399	.	1.658540	0.03602	N	0.233482	T	0.27663	0.0680	N	0.22421	0.69	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.27365	-1.0076	10	0.87932	D	0	-0.4152	3.1844	0.06596	0.4509:0.0:0.2147:0.3344	.	486	Q9H040	CA124_HUMAN	K	486	ENSP00000295050:E486K	ENSP00000295050:E486K	E	+	1	0	C1orf124	229555716	0.004000	0.15560	0.000000	0.03702	0.029000	0.11900	-0.036000	0.12185	-0.359000	0.08150	-1.095000	0.02154	GAA		0.403	SPRTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092858.1	NM_032018		4	34	0	0	0	0	4	34				
SIPA1L2	57568	broad.mit.edu	37	1	232649741	232649741	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr1:232649741G>A	ENST00000366630.1	-	2	1703	c.1345C>T	c.(1345-1347)Cac>Tac	p.H449Y	SIPA1L2_ENST00000262861.4_Missense_Mutation_p.H449Y			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	449					regulation of small GTPase mediated signal transduction (GO:0051056)		GTPase activator activity (GO:0005096)			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				TTTGTGCAGTGAGAGCTGAGT	0.522																																						uc001hvg.2		NA																	0				ovary(2)|central_nervous_system(2)|pancreas(1)|skin(1)	6						c.(1345-1347)CAC>TAC		signal-induced proliferation-associated 1 like							145.0	143.0	144.0					1																	232649741		1987	4166	6153	SO:0001583	missense	57568				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	g.chr1:232649741G>A	AB037810	CCDS41474.1	1q42.2	2008-02-05			ENSG00000116991	ENSG00000116991			23800	protein-coding gene	gene with protein product		611609					Standard	NM_020808		Approved	KIAA1389	uc001hvg.3	Q9P2F8	OTTHUMG00000037820	ENST00000366630.1:c.1345C>T	1.37:g.232649741G>A	ENSP00000355589:p.His449Tyr						p.H449Y	NM_020808	NP_065859	Q9P2F8	SI1L2_HUMAN			1	1503	-		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)	449					Q2TV88|Q5VXR7|Q5VXR8|Q641Q4|Q8NA38|Q96DZ3|Q9H9F6	Missense_Mutation	SNP	ENST00000366630.1	37	c.1345C>T	CCDS41474.1	.	.	.	.	.	.	.	.	.	.	G	13.88	2.369526	0.42003	.	.	ENSG00000116991	ENST00000366630;ENST00000262861	T;T	0.79749	-1.3;-1.3	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	T	0.76018	0.3929	L	0.59436	1.845	0.80722	D	1	P	0.37276	0.589	B	0.32393	0.145	T	0.73845	-0.3854	10	0.17369	T	0.5	-33.7449	18.9154	0.92503	0.0:0.0:1.0:0.0	.	449	Q9P2F8	SI1L2_HUMAN	Y	449	ENSP00000355589:H449Y;ENSP00000262861:H449Y	ENSP00000262861:H449Y	H	-	1	0	SIPA1L2	230716364	1.000000	0.71417	0.988000	0.46212	0.962000	0.63368	9.657000	0.98554	2.704000	0.92352	0.650000	0.86243	CAC		0.522	SIPA1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092318.1	XM_045839		46	142	0	0	0	0	46	142				
OR2L3	391192	broad.mit.edu	37	1	248224207	248224207	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr1:248224207C>G	ENST00000359959.3	+	1	224	c.224C>G	c.(223-225)aCc>aGc	p.T75S	OR2L13_ENST00000366478.2_Intron	NM_001004687.1	NP_001004687.1	Q8NG85	OR2L3_HUMAN	olfactory receptor, family 2, subfamily L, member 3	75						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(2)|large_intestine(7)|lung(28)|prostate(1)|skin(1)|urinary_tract(1)	41	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			TACATCTCCACCATTGTTCCT	0.438																																						uc001idx.1		NA																	0					0						c.(223-225)ACC>AGC		olfactory receptor, family 2, subfamily L,							302.0	280.0	288.0					1																	248224207		2203	4300	6503	SO:0001583	missense	391192				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248224207C>G	AB065950	CCDS31104.1	1q44	2012-08-09			ENSG00000198128	ENSG00000198128		"""GPCR / Class A : Olfactory receptors"""	15009	protein-coding gene	gene with protein product							Standard	NM_001004687		Approved		uc001idx.1	Q8NG85	OTTHUMG00000040195	ENST00000359959.3:c.224C>G	1.37:g.248224207C>G	ENSP00000353044:p.Thr75Ser					OR2L13_uc001ids.2_Intron	p.T75S	NM_001004687	NP_001004687	Q8NG85	OR2L3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0278)		1	224	+	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		75			Helical; Name=2; (Potential).		B9EH44	Missense_Mutation	SNP	ENST00000359959.3	37	c.224C>G	CCDS31104.1	.	.	.	.	.	.	.	.	.	.	.	6.330	0.429075	0.11987	.	.	ENSG00000198128	ENST00000359959	T	0.00392	7.58	2.05	2.05	0.26809	GPCR, rhodopsin-like superfamily (1);	0.634774	0.12092	U	0.500319	T	0.00356	0.0011	L	0.37507	1.11	0.09310	N	1	P	0.38148	0.62	P	0.45794	0.493	T	0.51529	-0.8694	10	0.56958	D	0.05	.	8.626	0.33890	0.0:0.7617:0.2383:0.0	.	75	Q8NG85	OR2L3_HUMAN	S	75	ENSP00000353044:T75S	ENSP00000353044:T75S	T	+	2	0	OR2L3	246290830	0.000000	0.05858	0.916000	0.36221	0.589000	0.36550	-0.953000	0.03877	1.124000	0.41980	0.462000	0.41574	ACC		0.438	OR2L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096852.1	NM_001004687		48	274	0	0	0	0	48	274				
PGBD2	267002	broad.mit.edu	37	1	249211312	249211312	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr1:249211312C>T	ENST00000329291.5	+	3	676	c.529C>T	c.(529-531)Cag>Tag	p.Q177*	PGBD2_ENST00000355360.4_Intron|PGBD2_ENST00000462488.1_Intron|PGBD2_ENST00000539153.1_Nonsense_Mutation_p.Q174*	NM_170725.2	NP_733843.1	Q6P3X8	PGBD2_HUMAN	piggyBac transposable element derived 2	177										NS(1)|endometrium(3)|lung(6)|ovary(1)|skin(3)	14	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.012)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			TCTTACGGCTCAGGAATTGAA	0.368																																						uc001ifh.2		NA																	0				ovary(1)	1						c.(529-531)CAG>TAG		hypothetical protein LOC267002 isoform a							146.0	150.0	149.0					1																	249211312		2203	4300	6503	SO:0001587	stop_gained	267002							g.chr1:249211312C>T	AF229602	CCDS31128.1, CCDS31129.1	1q	2008-02-05			ENSG00000185220	ENSG00000185220			19399	protein-coding gene	gene with protein product							Standard	XM_005270333		Approved		uc001ifh.3	Q6P3X8	OTTHUMG00000040424	ENST00000329291.5:c.529C>T	1.37:g.249211312C>T	ENSP00000331643:p.Gln177*					PGBD2_uc001ifg.2_Intron|PGBD2_uc009xhd.2_Nonsense_Mutation_p.Q174*	p.Q177*	NM_170725	NP_733843	Q6P3X8	PGBD2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		3	676	+	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.012)	177					B3KVR8|Q6MZF8	Nonsense_Mutation	SNP	ENST00000329291.5	37	c.529C>T	CCDS31128.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.322177	0.81580	.	.	ENSG00000185220	ENST00000329291;ENST00000539153	.	.	.	4.04	4.04	0.47022	.	0.000000	0.33792	N	0.004560	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06891	T	0.86	-13.8225	11.9052	0.52708	0.0:1.0:0.0:0.0	.	.	.	.	X	177;174	.	ENSP00000331643:Q177X	Q	+	1	0	PGBD2	247177935	0.739000	0.28196	0.939000	0.37840	0.528000	0.34623	0.864000	0.27926	2.243000	0.73865	0.655000	0.94253	CAG		0.368	PGBD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000097318.1			20	120	0	0	0	0	20	120				
DIP2C	22982	broad.mit.edu	37	10	436786	436786	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr10:436786C>G	ENST00000280886.6	-	11	1365	c.1278G>C	c.(1276-1278)caG>caC	p.Q426H	DIP2C_ENST00000381496.3_Missense_Mutation_p.Q319H	NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C (Drosophila)	426						nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		AGAAACCTATCTGCTGGCTCC	0.572																																						uc001ifp.2		NA																	0				breast(4)|ovary(2)|large_intestine(1)	7						c.(1276-1278)CAG>CAC		DIP2 disco-interacting protein 2 homolog C							118.0	115.0	116.0					10																	436786		2203	4300	6503	SO:0001583	missense	22982					nucleus	catalytic activity|transcription factor binding	g.chr10:436786C>G	BC035216	CCDS7054.1	10p15.3	2006-01-13	2006-01-13	2006-01-13	ENSG00000151240	ENSG00000151240			29150	protein-coding gene	gene with protein product		611380	"""KIAA0934"""	KIAA0934			Standard	NM_014974		Approved		uc001ifp.3	Q9Y2E4	OTTHUMG00000017532	ENST00000280886.6:c.1278G>C	10.37:g.436786C>G	ENSP00000280886:p.Gln426His					DIP2C_uc009xhj.1_Missense_Mutation_p.Q122H	p.Q426H	NM_014974	NP_055789	Q9Y2E4	DIP2C_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)	11	1368	-		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	426					B4DPI5|Q5SS78	Missense_Mutation	SNP	ENST00000280886.6	37	c.1278G>C	CCDS7054.1	.	.	.	.	.	.	.	.	.	.	C	10.18	1.280306	0.23392	.	.	ENSG00000151240	ENST00000280886;ENST00000381496	T;T	0.42131	0.98;0.98	5.42	3.55	0.40652	AMP-dependent synthetase/ligase (1);	0.000000	0.85682	D	0.000000	T	0.55924	0.1951	M	0.87547	2.89	0.43936	D	0.996597	B;B	0.28378	0.186;0.209	B;B	0.38954	0.248;0.286	T	0.59931	-0.7361	10	0.62326	D	0.03	-25.8549	13.487	0.61371	0.0:0.8061:0.0:0.1939	.	319;426	E7EPU2;Q9Y2E4	.;DIP2C_HUMAN	H	426;319	ENSP00000280886:Q426H;ENSP00000370907:Q319H	ENSP00000280886:Q426H	Q	-	3	2	DIP2C	426786	1.000000	0.71417	1.000000	0.80357	0.217000	0.24651	2.611000	0.46334	0.663000	0.31027	-1.786000	0.00637	CAG		0.572	DIP2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046389.1	NM_014974		34	121	0	0	0	0	34	121				
NET1	10276	broad.mit.edu	37	10	5495245	5495245	+	Silent	SNP	C	C	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr10:5495245C>T	ENST00000355029.4	+	7	769	c.627C>T	c.(625-627)atC>atT	p.I209I	NET1_ENST00000542715.1_Silent_p.I28I|NET1_ENST00000380359.3_Silent_p.I155I	NM_001047160.2	NP_001040625.1	Q7Z628	ARHG8_HUMAN	neuroepithelial cell transforming 1	209	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to ionizing radiation (GO:0071479)|myoblast migration (GO:0051451)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of cell growth (GO:0001558)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(4)|kidney(2)|large_intestine(9)|lung(5)|prostate(2)|skin(1)	23						AGTTGTCCATCATGTCAGAAG	0.408																																						uc001iia.2		NA																	0				breast(1)	1						c.(625-627)ATC>ATT		neuroepithelial cell transforming gene 1 isoform							168.0	163.0	165.0					10																	5495245		2203	4300	6503	SO:0001819	synonymous_variant	10276				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of cell growth|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|nucleus	Rho guanyl-nucleotide exchange factor activity	g.chr10:5495245C>T	AJ010046	CCDS7067.1, CCDS41483.1	10p15	2013-01-10	2008-09-12		ENSG00000173848	ENSG00000173848		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	14592	protein-coding gene	gene with protein product		606450				8649828	Standard	NR_073040		Approved	ARHGEF8, NET1A	uc001iia.4	Q7Z628	OTTHUMG00000017596	ENST00000355029.4:c.627C>T	10.37:g.5495245C>T						NET1_uc010qar.1_Silent_p.I28I|NET1_uc001iib.2_Silent_p.I155I|NET1_uc010qas.1_Silent_p.I28I	p.I209I	NM_001047160	NP_001040625	Q7Z628	ARHG8_HUMAN			7	765	+			209			DH.		Q12773|Q96D82|Q99903|Q9UEN6	Silent	SNP	ENST00000355029.4	37	c.627C>T	CCDS41483.1																																																																																				0.408	NET1-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000046553.3	NM_005863		49	164	0	0	0	0	49	164				
FBXO18	84893	broad.mit.edu	37	10	5951160	5951160	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr10:5951160C>T	ENST00000362091.4	+	5	1038	c.923C>T	c.(922-924)cCc>cTc	p.P308L	FBXO18_ENST00000397269.3_5'UTR|FBXO18_ENST00000379999.5_Missense_Mutation_p.P359L|FBXO18_ENST00000470089.1_3'UTR	NM_001258453.1|NM_178150.2	NP_001245382.1|NP_835363.1	Q8NFZ0	FBX18_HUMAN	F-box protein, helicase, 18	308					DNA catabolic process, endonucleolytic (GO:0000737)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902231)|positive regulation of protein phosphorylation (GO:0001934)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)			NS(2)|breast(2)|kidney(2)|large_intestine(16)|lung(9)|ovary(2)|prostate(3)|skin(3)|stomach(1)	40						AGTGTGGATCCCGAGAGGGTG	0.592																																						uc001iis.2		NA																	0				ovary(2)|skin(1)	3						c.(922-924)CCC>CTC		F-box only protein, helicase, 18 isoform 2							85.0	78.0	80.0					10																	5951160		2203	4300	6503	SO:0001583	missense	84893				DNA repair	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding	g.chr10:5951160C>T	AK095343	CCDS7072.1, CCDS7073.1, CCDS73064.1	10p15.1	2004-08-24	2004-06-15		ENSG00000134452	ENSG00000134452		"""F-boxes /  ""other"""""	13620	protein-coding gene	gene with protein product		607222	"""F-box only protein 18"""			10531037, 11956208	Standard	NM_032807		Approved	FBH1, FLJ14590, Fbx18	uc001iit.4	Q8NFZ0	OTTHUMG00000017609	ENST00000362091.4:c.923C>T	10.37:g.5951160C>T	ENSP00000355415:p.Pro308Leu					FBXO18_uc001iir.2_Missense_Mutation_p.P234L|FBXO18_uc009xig.2_Missense_Mutation_p.P234L|FBXO18_uc001iit.2_Missense_Mutation_p.P359L	p.P308L	NM_178150	NP_835363	Q8NFZ0	FBX18_HUMAN			5	1018	+			308					Q5JVB0|Q5JVB1|Q7Z4Q6|Q7Z4R0|Q8N1P5|Q8N586|Q96E82|Q96K67|Q96SW7|Q9UFB2	Missense_Mutation	SNP	ENST00000362091.4	37	c.923C>T	CCDS7072.1	.	.	.	.	.	.	.	.	.	.	C	15.91	2.970951	0.53614	.	.	ENSG00000134452	ENST00000362091;ENST00000544954;ENST00000379999;ENST00000379994	.	.	.	4.99	4.99	0.66335	.	0.247588	0.41001	D	0.000967	T	0.60392	0.2265	L	0.54323	1.7	0.54753	D	0.999984	P;P;P	0.47677	0.855;0.899;0.544	P;B;B	0.49085	0.6;0.436;0.272	T	0.63637	-0.6592	9	0.59425	D	0.04	-9.7115	12.3517	0.55153	0.1687:0.8312:0.0:0.0	.	359;308;234	Q8NFZ0-2;Q8NFZ0;Q2TAK1	.;FBX18_HUMAN;.	L	308;45;359;45	.	ENSP00000355415:P308L	P	+	2	0	FBXO18	5991166	0.220000	0.23631	0.044000	0.18714	0.466000	0.32739	2.974000	0.49272	2.478000	0.83669	0.561000	0.74099	CCC		0.592	FBXO18-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046596.1	NM_032807		19	67	0	0	0	0	19	67				
ITIH2	3698	broad.mit.edu	37	10	7769773	7769773	+	Missense_Mutation	SNP	G	G	C	rs267602583		TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr10:7769773G>C	ENST00000358415.4	+	11	1427	c.1261G>C	c.(1261-1263)Gat>Cat	p.D421H	ITIH2_ENST00000379587.4_Missense_Mutation_p.D410H	NM_002216.2	NP_002207.2	P19823	ITIH2_HUMAN	inter-alpha-trypsin inhibitor heavy chain 2	421	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				hyaluronan metabolic process (GO:0030212)|negative regulation of endopeptidase activity (GO:0010951)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						TTTGGTTTCTGATGGAGATCC	0.453																																						uc001ijs.2		NA																	0				ovary(1)|pancreas(1)|skin(1)	3						c.(1261-1263)GAT>CAT		inter-alpha globulin inhibitor H2 polypeptide							126.0	101.0	110.0					10																	7769773		2203	4300	6503	SO:0001583	missense	3698				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chr10:7769773G>C	X07173	CCDS31141.1	10p14	2011-10-26	2011-10-26		ENSG00000151655	ENSG00000151655			6167	protein-coding gene	gene with protein product		146640	"""inter-alpha (globulin) inhibitor, H2 polypeptide"""			1385302, 10100603	Standard	NM_002216		Approved	H2P	uc001ijs.3	P19823	OTTHUMG00000017633	ENST00000358415.4:c.1261G>C	10.37:g.7769773G>C	ENSP00000351190:p.Asp421His						p.D421H	NM_002216	NP_002207	P19823	ITIH2_HUMAN			11	1423	+			421			VWFA.		Q14659|Q15484|Q5T986	Missense_Mutation	SNP	ENST00000358415.4	37	c.1261G>C	CCDS31141.1	.	.	.	.	.	.	.	.	.	.	G	17.08	3.298485	0.60195	.	.	ENSG00000151655	ENST00000358415;ENST00000379587	D;D	0.92348	-3.02;-3.02	4.77	4.77	0.60923	von Willebrand factor, type A (3);	0.000000	0.85682	D	0.000000	D	0.97380	0.9143	H	0.95260	3.645	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98763	1.0725	10	0.87932	D	0	-29.9981	18.1524	0.89678	0.0:0.0:1.0:0.0	.	421	P19823	ITIH2_HUMAN	H	421;410	ENSP00000351190:D421H;ENSP00000368906:D410H	ENSP00000351190:D421H	D	+	1	0	ITIH2	7809779	1.000000	0.71417	1.000000	0.80357	0.368000	0.29767	9.275000	0.95738	2.354000	0.79902	0.551000	0.68910	GAT		0.453	ITIH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046678.2	NM_002216		15	47	0	0	0	0	15	47				
CUBN	8029	broad.mit.edu	37	10	16957877	16957877	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr10:16957877G>A	ENST00000377833.4	-	46	7218	c.7153C>T	c.(7153-7155)Cag>Tag	p.Q2385*		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	2385	CUB 17. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GAAGAATTCTGAAGGTTAAAG	0.413																																						uc001ioo.2		NA																	0				ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1)	19						c.(7153-7155)CAG>TAG		cubilin precursor	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						81.0	83.0	82.0					10																	16957877		2203	4300	6503	SO:0001587	stop_gained	8029				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	g.chr10:16957877G>A	AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.7153C>T	10.37:g.16957877G>A	ENSP00000367064:p.Gln2385*						p.Q2385*	NM_001081	NP_001072	O60494	CUBN_HUMAN			46	7205	-			2385			CUB 17.		B0YIZ4|Q5VTA6|Q96RU9	Nonsense_Mutation	SNP	ENST00000377833.4	37	c.7153C>T	CCDS7113.1	.	.	.	.	.	.	.	.	.	.	G	49	15.064979	0.99821	.	.	ENSG00000107611	ENST00000377833	.	.	.	5.62	5.62	0.85841	.	0.000000	0.44285	D	0.000463	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.26408	T	0.33	.	19.7315	0.96183	0.0:0.0:1.0:0.0	.	.	.	.	X	2385	.	ENSP00000367064:Q2385X	Q	-	1	0	CUBN	16997883	1.000000	0.71417	0.998000	0.56505	0.673000	0.39480	9.226000	0.95229	2.689000	0.91719	0.644000	0.83932	CAG		0.413	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081		14	94	0	0	0	0	14	94				
CACNB2	783	broad.mit.edu	37	10	18827162	18827162	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr10:18827162C>G	ENST00000324631.7	+	13	1416	c.1356C>G	c.(1354-1356)caC>caG	p.H452Q	CACNB2_ENST00000377329.4_Missense_Mutation_p.H398Q|CACNB2_ENST00000377315.4_Missense_Mutation_p.H404Q|CACNB2_ENST00000352115.6_Missense_Mutation_p.H428Q|CACNB2_ENST00000377331.2_Missense_Mutation_p.H400Q|RP11-499P20.2_ENST00000425669.1_RNA|CACNB2_ENST00000377328.1_Missense_Mutation_p.H202Q|CACNB2_ENST00000396576.2_Missense_Mutation_p.H397Q|CACNB2_ENST00000377319.3_Missense_Mutation_p.H359Q|CACNB2_ENST00000282343.8_Missense_Mutation_p.H424Q	NM_201593.2|NM_201596.2	NP_963887.2|NP_963890.2	Q08289	CACB2_HUMAN	calcium channel, voltage-dependent, beta 2 subunit	452					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|neuromuscular junction development (GO:0007528)|positive regulation of calcium ion transport (GO:0051928)|synaptic transmission (GO:0007268)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|voltage-gated calcium channel complex (GO:0005891)	calcium channel activity (GO:0005262)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|stomach(2)	31					Amlodipine(DB00381)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	CCTGTGAGCACCTTGCCGACT	0.552																																						uc001ipr.2		NA																	0				large_intestine(1)|central_nervous_system(1)|skin(1)	3						c.(1354-1356)CAC>CAG		calcium channel, voltage-dependent, beta 2	Magnesium Sulfate(DB00653)|Verapamil(DB00661)						197.0	175.0	182.0					10																	18827162		2203	4300	6503	SO:0001583	missense	783				axon guidance|neuromuscular junction development	integral to plasma membrane|sarcolemma|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity	g.chr10:18827162C>G	U95019	CCDS7125.1, CCDS7126.1, CCDS7127.1, CCDS7128.1, CCDS7129.1, CCDS41493.1, CCDS41494.1	10p12	2014-09-17			ENSG00000165995	ENSG00000165995		"""Calcium channel subunits"""	1402	protein-coding gene	gene with protein product		600003		MYSB, CACNLB2		9254841, 8494331	Standard	NM_201596		Approved		uc001ipr.2	Q08289	OTTHUMG00000017764	ENST00000324631.7:c.1356C>G	10.37:g.18827162C>G	ENSP00000320025:p.His452Gln					CACNB2_uc009xjz.1_Missense_Mutation_p.H202Q|CACNB2_uc001ips.2_Missense_Mutation_p.H428Q|CACNB2_uc001ipt.2_Missense_Mutation_p.H414Q|CACNB2_uc001ipu.2_Missense_Mutation_p.H424Q|CACNB2_uc001ipv.2_Missense_Mutation_p.H400Q|CACNB2_uc009xka.1_Missense_Mutation_p.H386Q|CACNB2_uc001ipw.2_Missense_Mutation_p.H359Q|CACNB2_uc001ipx.2_Missense_Mutation_p.H397Q|CACNB2_uc001ipz.2_Missense_Mutation_p.H374Q|CACNB2_uc001ipy.2_Missense_Mutation_p.H398Q|CACNB2_uc010qco.1_Missense_Mutation_p.H366Q|CACNB2_uc001iqa.2_Missense_Mutation_p.H404Q|NSUN6_uc001iqb.2_Intron	p.H452Q	NM_201596	NP_963890	Q08289	CACB2_HUMAN			13	1416	+			452					A6PVM5|A6PVM7|A6PVM8|O00304|Q5QJ99|Q5QJA0|Q5VVG9|Q5VVH0|Q5VWV6|Q6TME1|Q6TME2|Q6TME3|Q8WX81|Q96NZ3|Q96NZ4|Q96NZ5|Q9BWU2|Q9HD32|Q9Y340|Q9Y341	Missense_Mutation	SNP	ENST00000324631.7	37	c.1356C>G	CCDS7125.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.077549	0.76528	.	.	ENSG00000165995	ENST00000324631;ENST00000352115;ENST00000377328;ENST00000282343;ENST00000377331;ENST00000396576;ENST00000377319;ENST00000377329;ENST00000377315	T;T;T;T;T;T;T;T;T	0.80214	-1.35;-1.35;1.14;-1.35;-1.35;-1.35;-1.35;-1.35;-1.35	5.6	3.71	0.42584	Guanylate kinase/L-type calcium channel (1);Guanylate kinase (1);	0.000000	0.85682	D	0.000000	D	0.90448	0.7009	M	0.89715	3.055	0.80722	D	1	D;D;D;D;B;D;D;D;B;D;D;P;D	0.89917	1.0;1.0;0.975;0.999;0.128;0.999;1.0;0.998;0.204;1.0;0.999;0.456;1.0	D;D;P;D;B;D;D;D;B;D;D;B;D	0.91635	0.996;0.999;0.893;0.998;0.29;0.973;0.999;0.94;0.157;0.999;0.992;0.15;0.999	D	0.90898	0.4766	10	0.87932	D	0	-19.6337	11.7446	0.51813	0.0:0.8556:0.0:0.1444	.	366;424;202;404;374;398;408;359;400;424;414;428;452	B7Z1U5;Q5QJA0;A6PVM6;Q5VVH1;Q6TME1;Q08289-3;Q59H42;Q08289-6;A6PVM7;Q08289-4;Q08289-7;Q08289-8;Q08289	.;.;.;.;.;.;.;.;.;.;.;.;CACB2_HUMAN	Q	452;428;202;424;400;397;359;398;404	ENSP00000320025:H452Q;ENSP00000344474:H428Q;ENSP00000366545:H202Q;ENSP00000282343:H424Q;ENSP00000366548:H400Q;ENSP00000379821:H397Q;ENSP00000366536:H359Q;ENSP00000366546:H398Q;ENSP00000366532:H404Q	ENSP00000282343:H424Q	H	+	3	2	CACNB2	18867168	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	3.334000	0.52097	0.695000	0.31675	0.650000	0.86243	CAC		0.552	CACNB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047072.2	NM_000724		47	134	0	0	0	0	47	134				
DNAJC1	64215	broad.mit.edu	37	10	22208791	22208791	+	Nonsense_Mutation	SNP	G	G	C			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr10:22208791G>C	ENST00000376980.3	-	5	895	c.605C>G	c.(604-606)tCa>tGa	p.S202*		NM_022365.3	NP_071760.2	Q96KC8	DNJC1_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 1	202					negative regulation of proteolysis (GO:0045861)|positive regulation of ATPase activity (GO:0032781)|protein folding (GO:0006457)|regulation of protein secretion (GO:0050708)|regulation of translation (GO:0006417)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ATPase activator activity (GO:0001671)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)			cervix(1)|endometrium(1)|large_intestine(2)|lung(13)|skin(2)|upper_aerodigestive_tract(2)	21		Breast(68;0.00869)|Prostate(175;0.0181)|Lung SC(717;0.0262)				ACCGAGTTTTGATACATCCAC	0.299																																						uc001irc.2		NA																	0				lung(1)	1						c.(604-606)TCA>TGA		DnaJ (Hsp40) homolog, subfamily C, member 1							141.0	146.0	144.0					10																	22208791		2202	4297	6499	SO:0001587	stop_gained	64215				negative regulation of proteolysis|regulation of protein secretion|regulation of transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane|microsome|nuclear membrane	ATPase activator activity|DNA binding|heat shock protein binding|unfolded protein binding	g.chr10:22208791G>C	AK026062	CCDS7136.1	10p11.23	2011-09-02			ENSG00000136770	ENSG00000136770		"""Heat shock proteins / DNAJ (HSP40)"""	20090	protein-coding gene	gene with protein product		611207					Standard	NM_022365		Approved	DNAJL1, ERdj1, MTJ1	uc001irc.3	Q96KC8	OTTHUMG00000017800	ENST00000376980.3:c.605C>G	10.37:g.22208791G>C	ENSP00000366179:p.Ser202*					DNAJC1_uc001ird.2_Nonsense_Mutation_p.S88*	p.S202*	NM_022365	NP_071760	Q96KC8	DNJC1_HUMAN			5	892	-		Breast(68;0.00869)|Prostate(175;0.0181)|Lung SC(717;0.0262)	202			Cytoplasmic (By similarity).		B0YIZ8|Q5VX89|Q9H6B8	Nonsense_Mutation	SNP	ENST00000376980.3	37	c.605C>G	CCDS7136.1	.	.	.	.	.	.	.	.	.	.	G	19.94	3.919819	0.73098	.	.	ENSG00000136770	ENST00000376980	.	.	.	5.91	2.9	0.33743	.	0.718085	0.14236	N	0.332397	.	.	.	.	.	.	0.09310	N	0.999996	.	.	.	.	.	.	.	.	.	.	0.28530	T	0.3	-0.3421	6.2888	0.21049	0.2703:0.145:0.5846:0.0	.	.	.	.	X	202	.	ENSP00000366179:S202X	S	-	2	0	DNAJC1	22248797	0.900000	0.30661	0.341000	0.25589	0.916000	0.54674	1.959000	0.40412	1.500000	0.48636	0.650000	0.86243	TCA		0.299	DNAJC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047149.1	NM_022365		34	123	0	0	0	0	34	123				
MYO3A	53904	broad.mit.edu	37	10	26286125	26286125	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr10:26286125G>C	ENST00000265944.5	+	6	612	c.446G>C	c.(445-447)aGa>aCa	p.R149T	MYO3A_ENST00000376302.1_Missense_Mutation_p.R149T|MYO3A_ENST00000376301.1_Missense_Mutation_p.R149T|MYO3A_ENST00000543632.1_Missense_Mutation_p.R149T	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	149	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				ATP catabolic process (GO:0006200)|inner ear development (GO:0048839)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|stereocilium bundle tip (GO:0032426)	actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|plus-end directed microfilament motor activity (GO:0060002)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						ACTATCCACAGAGATGTGAAA	0.308																																						uc001isn.2		NA																	0				ovary(6)|stomach(3)|lung(3)|central_nervous_system(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	18						c.(445-447)AGA>ACA		myosin IIIA							89.0	83.0	85.0					10																	26286125		2203	4296	6499	SO:0001583	missense	53904				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity	g.chr10:26286125G>C	AF229172	CCDS7148.1	10p11.1	2011-09-27	2004-05-19		ENSG00000095777	ENSG00000095777		"""Myosins / Myosin superfamily : Class III"""	7601	protein-coding gene	gene with protein product		606808	"""deafness, autosomal recessive 30"""	DFNB30		10936054	Standard	NM_017433		Approved		uc001isn.2	Q8NEV4	OTTHUMG00000017837	ENST00000265944.5:c.446G>C	10.37:g.26286125G>C	ENSP00000265944:p.Arg149Thr					MYO3A_uc009xko.1_Missense_Mutation_p.R149T|MYO3A_uc009xkp.1_RNA|MYO3A_uc009xkq.1_Missense_Mutation_p.R149T|MYO3A_uc001ism.2_Missense_Mutation_p.R149T	p.R149T	NM_017433	NP_059129	Q8NEV4	MYO3A_HUMAN			6	806	+			149			Protein kinase.		Q4G0X2|Q5VZ28|Q8WX17|Q9NYS8	Missense_Mutation	SNP	ENST00000265944.5	37	c.446G>C	CCDS7148.1	.	.	.	.	.	.	.	.	.	.	G	27.2	4.813160	0.90707	.	.	ENSG00000095777	ENST00000265944;ENST00000376302;ENST00000543632;ENST00000376301	T;T;T;T	0.61510	1.55;1.55;1.55;0.1	5.41	5.41	0.78517	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	D	0.84005	0.5377	H	0.95611	3.695	0.80722	D	1	D;D;D;D	0.89917	0.999;0.999;1.0;1.0	D;D;D;D	0.97110	0.994;0.997;1.0;0.999	D	0.88489	0.3074	10	0.87932	D	0	.	19.1769	0.93605	0.0:0.0:1.0:0.0	.	149;149;149;149	F5H0U9;Q0VD65;Q8NEV4;Q4G0X2	.;.;MYO3A_HUMAN;.	T	149	ENSP00000265944:R149T;ENSP00000365479:R149T;ENSP00000445909:R149T;ENSP00000365478:R149T	ENSP00000265944:R149T	R	+	2	0	MYO3A	26326131	1.000000	0.71417	0.970000	0.41538	0.889000	0.51656	9.453000	0.97619	2.697000	0.92050	0.591000	0.81541	AGA		0.308	MYO3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047259.1	NM_017433		20	61	0	0	0	0	20	61				
KIAA1462	57608	broad.mit.edu	37	10	30317643	30317643	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr10:30317643C>G	ENST00000375377.1	-	3	1535	c.1434G>C	c.(1432-1434)caG>caC	p.Q478H		NM_020848.2	NP_065899.1	Q9P266	JCAD_HUMAN	KIAA1462	478					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)				breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						GTATTAAGCTCTGTGGATTCC	0.572																																						uc001iux.2		NA																	0				ovary(4)	4						c.(1432-1434)CAG>CAC		hypothetical protein LOC57608							61.0	65.0	64.0					10																	30317643		1858	4099	5957	SO:0001583	missense	57608							g.chr10:30317643C>G	AB040895	CCDS41500.1	10p12.1	2013-04-23			ENSG00000165757	ENSG00000165757			29283	protein-coding gene	gene with protein product	"""junctional protein associated with coronary artery disease"""	614398				10819331, 21884682	Standard	NM_020848		Approved	JCAD	uc001iux.3	Q9P266	OTTHUMG00000017885	ENST00000375377.1:c.1434G>C	10.37:g.30317643C>G	ENSP00000364526:p.Gln478His					KIAA1462_uc001iuy.2_Intron|KIAA1462_uc001iuz.2_Missense_Mutation_p.Q340H|KIAA1462_uc009xle.1_Missense_Mutation_p.Q478H	p.Q478H	NM_020848	NP_065899	Q9P266	K1462_HUMAN			2	1493	-			478					Q5HYA7|Q5T992|Q86WZ9|Q9BYJ2	Missense_Mutation	SNP	ENST00000375377.1	37	c.1434G>C	CCDS41500.1	.	.	.	.	.	.	.	.	.	.	C	14.61	2.586081	0.46110	.	.	ENSG00000165757	ENST00000375377	T	0.13196	2.61	4.64	0.343	0.16001	.	1.005200	0.08004	N	0.989249	T	0.18467	0.0443	L	0.44542	1.39	0.09310	N	1	D	0.60160	0.987	P	0.54590	0.756	T	0.19386	-1.0307	10	0.56958	D	0.05	-3.5152	3.5873	0.07975	0.0:0.3431:0.1991:0.4578	.	478	Q9P266	K1462_HUMAN	H	478	ENSP00000364526:Q478H	ENSP00000364526:Q478H	Q	-	3	2	KIAA1462	30357649	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.274000	0.18680	0.200000	0.20447	-0.304000	0.09214	CAG		0.572	KIAA1462-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047409.1	NM_020848		43	124	0	0	0	0	43	124				
CUL2	8453	broad.mit.edu	37	10	35327992	35327992	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr10:35327992C>G	ENST00000374748.1	-	10	1046	c.733G>C	c.(733-735)Gat>Cat	p.D245H	CUL2_ENST00000374746.1_Missense_Mutation_p.D245H|CUL2_ENST00000374751.3_Missense_Mutation_p.D245H|CUL2_ENST00000374742.1_Missense_Mutation_p.D245H|CUL2_ENST00000602371.1_Missense_Mutation_p.D188H|CUL2_ENST00000537177.1_Missense_Mutation_p.D264H|CUL2_ENST00000374749.3_Missense_Mutation_p.D245H			Q13617	CUL2_HUMAN	cullin 2	245					cell cycle arrest (GO:0007050)|cellular response to hypoxia (GO:0071456)|G1/S transition of mitotic cell cycle (GO:0000082)|intrinsic apoptotic signaling pathway (GO:0097193)|negative regulation of cell proliferation (GO:0008285)|protein ubiquitination (GO:0016567)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	Cul2-RING ubiquitin ligase complex (GO:0031462)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|VCB complex (GO:0030891)	ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|prostate(2)|skin(1)|urinary_tract(2)	31						ATTTCTTCATCTTTTAATCTA	0.323																																						uc001ixv.2		NA																	0				ovary(3)	3						c.(733-735)GAT>CAT		cullin 2							90.0	83.0	86.0					10																	35327992		2203	4295	6498	SO:0001583	missense	8453				cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex	ubiquitin protein ligase binding	g.chr10:35327992C>G	U83410	CCDS7179.1, CCDS73086.1	10p11.2	2011-05-24			ENSG00000108094	ENSG00000108094			2552	protein-coding gene	gene with protein product		603135				8681378	Standard	NM_003591		Approved		uc021ppa.1	Q13617	OTTHUMG00000017950	ENST00000374748.1:c.733G>C	10.37:g.35327992C>G	ENSP00000363880:p.Asp245His					CUL2_uc009xma.2_Missense_Mutation_p.D114H|CUL2_uc010qer.1_Missense_Mutation_p.D264H|CUL2_uc001ixw.2_Missense_Mutation_p.D245H|CUL2_uc010qes.1_Missense_Mutation_p.D182H	p.D245H	NM_003591	NP_003582	Q13617	CUL2_HUMAN			9	943	-			245					B3KT95|B7Z6K8|D3DRY6|G3V1S2|O00200|Q5T2B6|Q9UNF9	Missense_Mutation	SNP	ENST00000374748.1	37	c.733G>C	CCDS7179.1	.	.	.	.	.	.	.	.	.	.	C	26.6	4.757593	0.89843	.	.	ENSG00000108094	ENST00000374751;ENST00000374748;ENST00000374746;ENST00000374749;ENST00000374754;ENST00000374742;ENST00000537177	T;T;T;T;T;T	0.30714	1.52;1.52;1.52;1.52;1.52;1.52	6.01	6.01	0.97437	Cullin, N-terminal (1);Cullin repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.47021	0.1423	L	0.38175	1.15	0.80722	D	1	D;D;D	0.58620	0.983;0.961;0.969	P;P;P	0.61477	0.789;0.741;0.889	T	0.33879	-0.9851	10	0.87932	D	0	-36.514	20.5211	0.99222	0.0:1.0:0.0:0.0	.	245;264;245	Q5T2B5;G3V1S2;Q13617	.;.;CUL2_HUMAN	H	245;245;245;245;188;245;264	ENSP00000363883:D245H;ENSP00000363880:D245H;ENSP00000363878:D245H;ENSP00000363881:D245H;ENSP00000363874:D245H;ENSP00000444856:D264H	ENSP00000363874:D245H	D	-	1	0	CUL2	35367998	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	7.818000	0.86416	2.861000	0.98227	0.650000	0.86243	GAT		0.323	CUL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047538.1	NM_003591		10	41	0	0	0	0	10	41				
MAPK8	5599	broad.mit.edu	37	10	49618178	49618178	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr10:49618178C>G	ENST00000374189.1	+	5	598	c.417C>G	c.(415-417)atC>atG	p.I139M	MAPK8_ENST00000360332.3_Missense_Mutation_p.I139M|MAPK8_ENST00000374174.1_Missense_Mutation_p.I139M|MAPK8_ENST00000395611.3_Missense_Mutation_p.I139M|MAPK8_ENST00000374182.3_Missense_Mutation_p.I139M			P45983	MK08_HUMAN	mitogen-activated protein kinase 8	139	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to mechanical stimulus (GO:0071260)|cellular response to nitric oxide (GO:0071732)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|JNK cascade (GO:0007254)|JUN phosphorylation (GO:0007258)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein binding (GO:0032091)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of deacetylase activity (GO:0090045)|positive regulation of determination of dorsal identity (GO:2000017)|positive regulation of gene expression (GO:0010628)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|programmed necrotic cell death (GO:0097300)|regulation of histone deacetylation (GO:0031063)|regulation of protein localization (GO:0032880)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|response to cadmium ion (GO:0046686)|response to stress (GO:0006950)|response to UV (GO:0009411)|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)|nucleus (GO:0005634)	ATP binding (GO:0005524)|histone deacetylase binding (GO:0042826)|histone deacetylase regulator activity (GO:0035033)|JUN kinase activity (GO:0004705)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(6)|liver(3)|lung(11)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	34		Ovarian(717;0.0221)|Lung SC(717;0.113)|all_neural(218;0.116)		Epithelial(53;3.46e-65)|Lung(62;0.125)		TGTGTGGAATCAAGCACCTTC	0.383																																						uc009xnz.2		NA																	0				central_nervous_system(3)|lung(2)|stomach(1)|ovary(1)|kidney(1)	8						c.(415-417)ATC>ATG		mitogen-activated protein kinase 8 isoform JNK1							197.0	174.0	182.0					10																	49618178		2203	4300	6503	SO:0001583	missense	5599				activation of pro-apoptotic gene products|cellular response to mechanical stimulus|induction of apoptosis by intracellular signals|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of apoptosis|negative regulation of protein binding|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of deacetylase activity|regulation of protein localization|regulation of sequence-specific DNA binding transcription factor activity|response to UV|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|histone deacetylase binding|histone deacetylase regulator activity|JUN kinase activity|protein binding	g.chr10:49618178C>G	L26318	CCDS7223.1, CCDS7224.1, CCDS7225.1, CCDS7226.1, CCDS60527.1	10q11	2011-06-09			ENSG00000107643	ENSG00000107643	2.7.11.1	"""Mitogen-activated protein kinase cascade / Kinases"""	6881	protein-coding gene	gene with protein product	"""JUN N-terminal kinase"""	601158		PRKM8		8137421, 8654373	Standard	NM_002750		Approved	JNK, JNK1, SAPK1	uc001jgp.3	P45983	OTTHUMG00000018172	ENST00000374189.1:c.417C>G	10.37:g.49618178C>G	ENSP00000363304:p.Ile139Met					MAPK8_uc001jgl.2_Missense_Mutation_p.I139M|MAPK8_uc001jgm.2_Missense_Mutation_p.I139M|MAPK8_uc001jgo.2_Missense_Mutation_p.I139M|MAPK8_uc009xoa.2_Missense_Mutation_p.I139M|MAPK8_uc001jgn.2_Missense_Mutation_p.I139M|MAPK8_uc010qgk.1_Missense_Mutation_p.I139M|MAPK8_uc001jgp.2_Missense_Mutation_p.I139M|MAPK8_uc001jgq.2_Missense_Mutation_p.I139M	p.I139M	NM_139047	NP_620635	P45983	MK08_HUMAN		Epithelial(53;3.46e-65)|Lung(62;0.125)	5	641	+		Ovarian(717;0.0221)|Lung SC(717;0.113)|all_neural(218;0.116)	139			Protein kinase.		B5BTZ5|B7ZLV4|D3DX88|D3DX92|Q15709|Q15712|Q15713|Q308M2	Missense_Mutation	SNP	ENST00000374189.1	37	c.417C>G	CCDS7224.1	.	.	.	.	.	.	.	.	.	.	C	14.51	2.557748	0.45590	.	.	ENSG00000107643	ENST00000432379;ENST00000429041;ENST00000374189;ENST00000426557;ENST00000374182;ENST00000374179;ENST00000360332;ENST00000374176;ENST00000374174;ENST00000395611	D;D;D;D;D;D;D;D;D;D	0.83506	-1.73;-1.73;-1.73;-1.73;-1.73;-1.73;-1.73;-1.73;-1.73;-1.73	5.4	5.4	0.78164	Serine/threonine-protein kinase-like domain (1);MAP kinase, conserved site (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	D	0.85915	0.5808	L	0.28649	0.875	0.80722	D	1	P;P;P;P;P	0.47910	0.51;0.88;0.902;0.902;0.88	P;D;D;D;D	0.70227	0.835;0.947;0.968;0.968;0.947	D	0.86867	0.2033	10	0.87932	D	0	.	13.8151	0.63287	0.0:0.9264:0.0:0.0736	.	139;139;139;139;139	Q308M2;P45983-2;P45983;A1L4K2;P45983-3	.;.;MK08_HUMAN;.;.	M	139;56;139;139;139;139;139;139;139;139	ENSP00000387936:I139M;ENSP00000393223:I56M;ENSP00000363304:I139M;ENSP00000397729:I139M;ENSP00000363297:I139M;ENSP00000363294:I139M;ENSP00000353483:I139M;ENSP00000363291:I139M;ENSP00000363289:I139M;ENSP00000378974:I139M	ENSP00000353483:I139M	I	+	3	3	MAPK8	49288184	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.527000	0.45615	2.695000	0.91970	0.650000	0.86243	ATC		0.383	MAPK8-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047931.1			3	145	0	0	0	0	3	145				
PCDH15	65217	broad.mit.edu	37	10	55782797	55782797	+	Missense_Mutation	SNP	C	C	G	rs146468805		TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr10:55782797C>G	ENST00000320301.6	-	19	2775	c.2381G>C	c.(2380-2382)gGa>gCa	p.G794A	PCDH15_ENST00000395430.1_Missense_Mutation_p.G794A|PCDH15_ENST00000373965.2_Missense_Mutation_p.G801A|PCDH15_ENST00000361849.3_Missense_Mutation_p.G794A|PCDH15_ENST00000395432.2_Missense_Mutation_p.G757A|PCDH15_ENST00000395438.1_Missense_Mutation_p.G794A|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000409834.1_Missense_Mutation_p.G405A|PCDH15_ENST00000414778.1_Missense_Mutation_p.G799A|PCDH15_ENST00000437009.1_Missense_Mutation_p.G723A|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395445.1_Missense_Mutation_p.G801A|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395433.1_Missense_Mutation_p.G772A|PCDH15_ENST00000373955.1_Missense_Mutation_p.G794A|PCDH15_ENST00000395442.1_Intron	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	794	Cadherin 7. {ECO:0000255|PROSITE- ProRule:PRU00043}.				equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				GTGTACTGCTCCATCTGTTGC	0.423										HNSCC(58;0.16)																												uc001jju.1		NA																	0				pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2)	13						c.(2380-2382)GGA>GCA		protocadherin 15 isoform CD1-4 precursor		C	ALA/GLY,ALA/GLY,ALA/GLY,ALA/GLY,ALA/GLY,ALA/GLY,ALA/GLY,ALA/GLY,ALA/GLY,ALA/GLY,ALA/GLY,ALA/GLY	1,4405	2.1+/-5.4	0,1,2202	198.0	179.0	186.0		2396,2381,2168,2381,2270,2315,2417,2381,2396,2381,2315,2381	5.8	1.0	10	dbSNP_134	186	0,8600		0,0,4300	no	missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense	PCDH15	NM_001142763.1,NM_001142764.1,NM_001142765.1,NM_001142766.1,NM_001142767.1,NM_001142768.1,NM_001142769.1,NM_001142770.1,NM_001142771.1,NM_001142772.1,NM_001142773.1,NM_033056.3	60,60,60,60,60,60,60,60,60,60,60,60	0,1,6502	GG,GC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	799/1963,794/1958,723/1887,794/1953,757/1916,772/1936,806/1791,794/1540,799/1683,794/1678,772/1933,794/1956	55782797	1,13005	2203	4300	6503	SO:0001583	missense	65217				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	g.chr10:55782797C>G	AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.2381G>C	10.37:g.55782797C>G	ENSP00000322604:p.Gly794Ala	HNSCC(58;0.16)				PCDH15_uc010qhq.1_Missense_Mutation_p.G799A|PCDH15_uc010qhr.1_Missense_Mutation_p.G794A|PCDH15_uc010qhs.1_Missense_Mutation_p.G806A|PCDH15_uc010qht.1_Missense_Mutation_p.G801A|PCDH15_uc010qhu.1_Missense_Mutation_p.G794A|PCDH15_uc001jjv.1_Intron|PCDH15_uc010qhv.1_Missense_Mutation_p.G794A|PCDH15_uc010qhw.1_Missense_Mutation_p.G757A|PCDH15_uc010qhx.1_Missense_Mutation_p.G723A|PCDH15_uc010qhy.1_Missense_Mutation_p.G799A|PCDH15_uc010qhz.1_Missense_Mutation_p.G794A|PCDH15_uc010qia.1_Missense_Mutation_p.G772A|PCDH15_uc010qib.1_Missense_Mutation_p.G772A|PCDH15_uc001jjw.2_Missense_Mutation_p.G794A	p.G794A	NM_033056	NP_149045	Q96QU1	PCD15_HUMAN			19	2776	-		Melanoma(3;0.117)|Lung SC(717;0.238)	794			Extracellular (Potential).|Cadherin 7.		A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	ENST00000320301.6	37	c.2381G>C	CCDS7248.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.937993	0.92526	2.27E-4	0.0	ENSG00000150275	ENST00000373965;ENST00000414778;ENST00000455746;ENST00000395438;ENST00000409834;ENST00000395445;ENST00000395432;ENST00000361849;ENST00000395433;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000437009;ENST00000373955	T;T;T;T;T;T;T;T;T;T;T;T	0.50277	0.75;0.75;0.75;0.75;0.75;0.75;0.75;0.75;0.75;0.75;0.75;0.75	5.76	5.76	0.90799	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.67915	0.2944	L	0.59912	1.85	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;0.999;0.997;0.987;1.0;1.0;1.0;1.0;1.0;0.999;1.0;1.0;1.0;0.999	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.97110	1.0;0.981;0.981;0.966;1.0;0.999;1.0;1.0;0.997;0.988;0.996;0.998;0.996;0.992	T	0.67550	-0.5642	9	0.72032	D	0.01	.	19.9381	0.97149	0.0:1.0:0.0:0.0	.	772;794;794;799;723;757;794;794;801;801;794;799;794;794	A2A3E8;E7EMG4;A2A3E7;C9JIG1;E7EM53;E7EMG0;A2A3E6;A2A3E3;C6ZEF5;A2A3E2;C6ZEF7;C9J4F3;Q96QU1-3;Q96QU1	.;.;.;.;.;.;.;.;.;.;.;.;.;PCD15_HUMAN	A	801;799;794;794;405;801;757;794;772;794;794;799;723;794	ENSP00000363076:G801A;ENSP00000410304:G799A;ENSP00000378826:G794A;ENSP00000386693:G405A;ENSP00000378832:G801A;ENSP00000378820:G757A;ENSP00000354950:G794A;ENSP00000378821:G772A;ENSP00000322604:G794A;ENSP00000378818:G794A;ENSP00000412628:G723A;ENSP00000363066:G794A	ENSP00000322604:G794A	G	-	2	0	PCDH15	55452803	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.776000	0.85560	2.880000	0.98712	0.650000	0.86243	GGA		0.423	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	NM_033056		27	99	0	0	0	0	27	99				
USP54	159195	broad.mit.edu	37	10	75335391	75335391	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr10:75335391G>A	ENST00000339859.4	-	2	126	c.26C>T	c.(25-27)tCa>tTa	p.S9L	USP54_ENST00000319786.7_Missense_Mutation_p.S9L|USP54_ENST00000394811.2_5'UTR|USP54_ENST00000428547.1_Missense_Mutation_p.S9L|USP54_ENST00000408019.1_Missense_Mutation_p.S9L			Q70EL1	UBP54_HUMAN	ubiquitin specific peptidase 54	9					ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitinyl hydrolase activity (GO:0036459)			breast(5)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	30	Prostate(51;0.0112)					ACGACCCCCTGAAAAATAATT	0.448																																					Colon(195;880 2046 8854 25025 38456)	uc001juo.2		NA																	0				breast(3)|lung(2)|kidney(1)	6						c.(25-27)TCA>TTA		ubiquitin specific peptidase 54							96.0	92.0	93.0					10																	75335391		1841	4095	5936	SO:0001583	missense	159195				ubiquitin-dependent protein catabolic process		protein binding|ubiquitin thiolesterase activity	g.chr10:75335391G>A	AJ583820	CCDS7329.2	10q22.3	2006-09-26	2005-08-08	2004-01-30	ENSG00000166348	ENSG00000166348		"""Ubiquitin-specific peptidases"""	23513	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 29"", ""ubiquitin specific protease 54"""	C10orf29		14715245	Standard	NM_152586		Approved	FLJ37318, bA137L10.3, bA137L10.4	uc001juo.3	Q70EL1	OTTHUMG00000018469	ENST00000339859.4:c.26C>T	10.37:g.75335391G>A	ENSP00000345216:p.Ser9Leu					USP54_uc001jup.2_Missense_Mutation_p.S9L|USP54_uc010qkl.1_Missense_Mutation_p.S9L	p.S9L	NM_152586	NP_689799	Q70EL1	UBP54_HUMAN			1	43	-	Prostate(51;0.0112)		9					A1L4Q4|A3KFK3|A3KFK5|A3KFK6|A3KFK7|A6PVS4|A6PVS5|A6PVS6|A6PVS7|B3KVY1|B9ZVM1|Q5F2F4|Q6P1N6|Q6ZSP1|Q6ZSR1|Q6ZTM0|Q8N1X2	Missense_Mutation	SNP	ENST00000339859.4	37	c.26C>T	CCDS7329.2	.	.	.	.	.	.	.	.	.	.	G	18.33	3.601382	0.66445	.	.	ENSG00000166348	ENST00000339859;ENST00000408019;ENST00000428547;ENST00000319786;ENST00000451492;ENST00000413442;ENST00000433394	T;T;T	0.24908	1.83;1.83;1.91	5.87	5.87	0.94306	.	0.375148	0.21880	U	0.067749	T	0.26376	0.0644	N	0.08118	0	0.39337	D	0.965512	B;B;D	0.56521	0.278;0.4;0.976	B;B;P	0.52343	0.084;0.173;0.696	T	0.17379	-1.0371	10	0.48119	T	0.1	-6.4485	20.2191	0.98319	0.0:0.0:1.0:0.0	.	9;9;9	B7Z7X1;Q70EL1-6;Q70EL1	.;.;UBP54_HUMAN	L	9	ENSP00000345216:S9L;ENSP00000386080:S9L;ENSP00000408714:S9L	ENSP00000326547:S9L	S	-	2	0	USP54	75005397	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.230000	0.95299	2.780000	0.95670	0.655000	0.94253	TCA		0.448	USP54-014	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316563.2	NM_152586		18	105	0	0	0	0	18	105				
KAT6B	23522	broad.mit.edu	37	10	76789241	76789241	+	Silent	SNP	C	C	T	rs147158118		TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr10:76789241C>T	ENST00000287239.4	+	18	5148	c.4659C>T	c.(4657-4659)agC>agT	p.S1553S	KAT6B_ENST00000372714.1_Silent_p.S1261S|KAT6B_ENST00000372724.1_Silent_p.S1261S|KAT6B_ENST00000372711.1_Silent_p.S1370S|KAT6B_ENST00000372725.1_Silent_p.S1261S	NM_001256468.1|NM_012330.3	NP_001243397.1|NP_036462.2	Q8WYB5	KAT6B_HUMAN	K(lysine) acetyltransferase 6B	1553					chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	acetyltransferase activity (GO:0016407)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)										AGGAGAGCAGCGAACAGGACG	0.527																																						uc001jwn.1		NA								T					CREBBP		AML		0				central_nervous_system(5)|ovary(4)|lung(3)|breast(2)|skin(1)|prostate(1)	16						c.(4657-4659)AGC>AGT		MYST histone acetyltransferase (monocytic		C		2,4404	4.2+/-10.8	0,2,2201	131.0	128.0	129.0		4659	-9.5	0.5	10	dbSNP_134	129	0,8600		0,0,4300	no	coding-synonymous	KAT6B	NM_012330.2		0,2,6501	TT,TC,CC		0.0,0.0454,0.0154		1553/2074	76789241	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	23522				histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding	g.chr10:76789241C>T	AF113514	CCDS7345.1, CCDS58084.1, CCDS58085.1	10q22.2	2013-01-28	2011-07-21	2011-07-21	ENSG00000156650	ENSG00000156650		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"", ""Zinc fingers, PHD-type"""	17582	protein-coding gene	gene with protein product	"""MOZ-related factor"""	605880	"""MYST histone acetyltransferase (monocytic leukemia) 4"""	MYST4		9205841, 10497217	Standard	NM_012330		Approved	querkopf, qkf, Morf, MOZ2, ZC2HC6B	uc001jwn.2	Q8WYB5	OTTHUMG00000018509	ENST00000287239.4:c.4659C>T	10.37:g.76789241C>T						MYST4_uc001jwo.1_Silent_p.S1261S|MYST4_uc001jwp.1_Silent_p.S1370S	p.S1553S	NM_012330	NP_036462	Q8WYB5	MYST4_HUMAN			18	5152	+	all_cancers(46;0.0347)|all_epithelial(25;0.00236)|Prostate(51;0.0112)|Ovarian(15;0.0964)		1553					O15087|Q86Y05|Q8WU81|Q9UKW2|Q9UKW3|Q9UKX0	Silent	SNP	ENST00000287239.4	37	c.4659C>T	CCDS7345.1																																																																																				0.527	KAT6B-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048771.1	NM_012330		15	110	0	0	0	0	15	110				
TLL2	7093	broad.mit.edu	37	10	98146809	98146809	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr10:98146809G>C	ENST00000357947.3	-	14	1978	c.1753C>G	c.(1753-1755)Cac>Gac	p.H585D		NM_012465.3	NP_036597.1	Q9Y6L7	TLL2_HUMAN	tolloid-like 2	585	EGF-like 1; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.			EVDECSWPDHGGCEHRCV -> GKKKKKKKKKKKKKKKKK (in Ref. 5; AAH13871). {ECO:0000305}.	cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.H585N(2)		NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		CACCCGCCGTGATCTGGCCAG	0.592																																						uc001kml.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|pancreas(1)|skin(1)	3						c.(1753-1755)CAC>GAC		tolloid-like 2 precursor							88.0	75.0	80.0					10																	98146809		2203	4300	6503	SO:0001583	missense	7093				cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr10:98146809G>C	AF059516	CCDS7449.1	10q23-q24	2008-07-29			ENSG00000095587	ENSG00000095587			11844	protein-coding gene	gene with protein product		606743				10516436	Standard	NM_012465		Approved		uc001kml.2	Q9Y6L7	OTTHUMG00000018833	ENST00000357947.3:c.1753C>G	10.37:g.98146809G>C	ENSP00000350630:p.His585Asp						p.H585D	NM_012465	NP_036597	Q9Y6L7	TLL2_HUMAN		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)	14	1979	-		Colorectal(252;0.0846)	585	EVDECSWPDHGGCEHRCV -> GKKKKKKKKKKKKKKKKK (in Ref. 5; AAH13871).		EGF-like 1; calcium-binding (Potential).		A6NDK0|Q2M1H1|Q6PJN5|Q9UQ00	Missense_Mutation	SNP	ENST00000357947.3	37	c.1753C>G	CCDS7449.1	.	.	.	.	.	.	.	.	.	.	G	14.25	2.480082	0.44044	.	.	ENSG00000095587	ENST00000357947	D	0.96168	-3.93	4.43	2.37	0.29283	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.695351	0.12237	N	0.486862	D	0.90490	0.7021	N	0.25245	0.725	0.39101	D	0.961294	B	0.24675	0.109	B	0.23852	0.049	D	0.87465	0.2410	10	0.54805	T	0.06	.	10.526	0.44950	0.0:0.0:0.4548:0.5452	.	585	Q9Y6L7	TLL2_HUMAN	D	585	ENSP00000350630:H585D	ENSP00000350630:H585D	H	-	1	0	TLL2	98136799	1.000000	0.71417	0.742000	0.31022	0.789000	0.44602	6.702000	0.74628	1.191000	0.43056	0.491000	0.48974	CAC		0.592	TLL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049608.1			18	48	0	0	0	0	18	48				
PIK3AP1	118788	broad.mit.edu	37	10	98362077	98362077	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr10:98362077C>G	ENST00000339364.5	-	16	2439	c.2320G>C	c.(2320-2322)Gag>Cag	p.E774Q	PIK3AP1_ENST00000371110.2_Missense_Mutation_p.E596Q|PIK3AP1_ENST00000371109.3_Missense_Mutation_p.E373Q	NM_152309.2	NP_689522.2	Q6ZUJ8	BCAP_HUMAN	phosphoinositide-3-kinase adaptor protein 1	774	Pro-rich.				negative regulation of toll-like receptor signaling pathway (GO:0034122)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|regulation of inflammatory response (GO:0050727)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 7 signaling pathway (GO:0034154)|toll-like receptor 9 signaling pathway (GO:0034162)	cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	phosphatidylinositol 3-kinase regulatory subunit binding (GO:0036312)			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(27)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	52		Colorectal(252;0.0442)		Epithelial(162;6.29e-08)|all cancers(201;3.18e-06)		GGGGGTCTCTCGAGGGACATG	0.507																																						uc001kmq.2		NA																	0				upper_aerodigestive_tract(3)|ovary(1)|skin(1)	5						c.(2320-2322)GAG>CAG		phosphoinositide-3-kinase adaptor protein 1							50.0	53.0	52.0					10																	98362077		2203	4300	6503	SO:0001583	missense	118788					cytoplasm|plasma membrane		g.chr10:98362077C>G	AK092883	CCDS31259.1	10q24.2	2008-10-23			ENSG00000155629	ENSG00000155629			30034	protein-coding gene	gene with protein product		607942				1251844, 11163197	Standard	NM_152309		Approved	BCAP, FLJ35564	uc001kmq.3	Q6ZUJ8	OTTHUMG00000018838	ENST00000339364.5:c.2320G>C	10.37:g.98362077C>G	ENSP00000339826:p.Glu774Gln					PIK3AP1_uc001kmo.2_Missense_Mutation_p.E373Q|PIK3AP1_uc001kmp.2_Missense_Mutation_p.E596Q	p.E774Q	NM_152309	NP_689522	Q6ZUJ8	BCAP_HUMAN		Epithelial(162;6.29e-08)|all cancers(201;3.18e-06)	16	2448	-		Colorectal(252;0.0442)	774			Pro-rich.		Q5TB56|Q5VXJ9|Q8N6J6|Q8NAC8	Missense_Mutation	SNP	ENST00000339364.5	37	c.2320G>C	CCDS31259.1	.	.	.	.	.	.	.	.	.	.	C	13.58	2.279563	0.40294	.	.	ENSG00000155629	ENST00000339364;ENST00000371110;ENST00000371109	T;T;T	0.49139	0.79;0.79;0.79	4.18	4.18	0.49190	.	0.342178	0.26362	N	0.024803	T	0.59101	0.2169	L	0.47716	1.5	0.32510	N	0.537693	D;D	0.71674	0.998;0.998	D;D	0.81914	0.995;0.995	T	0.65829	-0.6073	10	0.41790	T	0.15	-18.9175	12.3723	0.55261	0.0:1.0:0.0:0.0	.	774;373	Q6ZUJ8;Q6ZUJ8-3	BCAP_HUMAN;.	Q	774;596;373	ENSP00000339826:E774Q;ENSP00000360151:E596Q;ENSP00000360150:E373Q	ENSP00000339826:E774Q	E	-	1	0	PIK3AP1	98352067	0.996000	0.38824	0.865000	0.33974	0.060000	0.15804	4.370000	0.59517	2.022000	0.59522	0.462000	0.41574	GAG		0.507	PIK3AP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049619.2	NM_152309		26	40	0	0	0	0	26	40				
CRTAC1	55118	broad.mit.edu	37	10	99655057	99655057	+	Silent	SNP	G	G	A	rs375834437		TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr10:99655057G>A	ENST00000370597.3	-	11	1786	c.1431C>T	c.(1429-1431)atC>atT	p.I477I	CRTAC1_ENST00000298819.4_Silent_p.I477I|CRTAC1_ENST00000370591.2_Silent_p.I477I	NM_018058.6	NP_060528.3	Q9NQ79	CRAC1_HUMAN	cartilage acidic protein 1	477						extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(6)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	35		Colorectal(252;0.24)		Epithelial(162;2.18e-10)|all cancers(201;3.27e-09)		AGCCCCCGTCGATGATCCTCA	0.632																																						uc001kou.1		NA																	0				ovary(4)|pancreas(1)	5						c.(1429-1431)ATC>ATT		cartilage acidic protein 1 precursor		G	,	0,4406		0,0,2203	86.0	71.0	76.0		1431,1431	-0.8	1.0	10		76	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	CRTAC1	NM_001206528.2,NM_018058.6	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	477/646,477/662	99655057	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	55118					proteinaceous extracellular matrix	calcium ion binding	g.chr10:99655057G>A	AJ276171	CCDS31266.1, CCDS55723.1	10q22	2007-12-03			ENSG00000095713	ENSG00000095713			14882	protein-coding gene	gene with protein product		606276				11139377	Standard	NM_018058		Approved	FLJ10320, CEP-68, ASPIC1	uc001kou.2	Q9NQ79	OTTHUMG00000018871	ENST00000370597.3:c.1431C>T	10.37:g.99655057G>A						CRTAC1_uc001kov.2_Silent_p.I466I|CRTAC1_uc001kot.1_Silent_p.I267I	p.I477I	NM_018058	NP_060528	Q9NQ79	CRAC1_HUMAN		Epithelial(162;2.18e-10)|all cancers(201;3.27e-09)	11	1787	-		Colorectal(252;0.24)	477					B1ALN4|Q5T4F8|Q8N4H6|Q8TE52|Q9NQ78|Q9NQ80|Q9NW46	Silent	SNP	ENST00000370597.3	37	c.1431C>T	CCDS31266.1																																																																																				0.632	CRTAC1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049754.1	NM_018058		18	36	0	0	0	0	18	36				
POLL	27343	broad.mit.edu	37	10	103344383	103344383	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr10:103344383G>T	ENST00000370162.3	-	5	1361	c.867C>A	c.(865-867)ttC>ttA	p.F289L	POLL_ENST00000370169.1_Missense_Mutation_p.F289L|POLL_ENST00000463515.1_5'Flank|POLL_ENST00000370168.3_5'Flank|POLL_ENST00000436284.2_Missense_Mutation_p.S147Y|POLL_ENST00000456836.2_Intron|POLL_ENST00000339310.3_Intron|POLL_ENST00000370172.1_Missense_Mutation_p.F201L|POLL_ENST00000299206.4_Missense_Mutation_p.F289L|DPCD_ENST00000416979.2_Intron|DPCD_ENST00000470165.1_Intron|POLL_ENST00000370158.3_Intron	NM_001174084.1|NM_001174085.1|NM_013274.3	NP_001167555.1|NP_001167556.1|NP_037406.1	Q9UGP5	DPOLL_HUMAN	polymerase (DNA directed), lambda	289					DNA replication (GO:0006260)|DNA-dependent DNA replication (GO:0006261)|nucleotide-excision repair (GO:0006289)|somatic hypermutation of immunoglobulin genes (GO:0016446)	nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|lyase activity (GO:0016829)|metal ion binding (GO:0046872)			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(2)	19		Colorectal(252;0.234)		Epithelial(162;1.55e-08)|all cancers(201;6.64e-07)		CAGGCTTATGGAAGCTCTTGA	0.562								DNA polymerases (catalytic subunits)																														uc001ktg.1		NA																	0					0						c.(865-867)TTC>TTA	DNA_polymerases_(catalytic_subunits)	DNA-directed DNA polymerase lambda							63.0	53.0	57.0					10																	103344383		2203	4295	6498	SO:0001583	missense	27343				DNA replication|nucleotide-excision repair|somatic hypermutation of immunoglobulin genes	nucleus	DNA binding|DNA-directed DNA polymerase activity|lyase activity|metal ion binding	g.chr10:103344383G>T	AF161019	CCDS7513.1	10q23	2012-05-18			ENSG00000166169	ENSG00000166169		"""DNA polymerases"""	9184	protein-coding gene	gene with protein product		606343				17686665	Standard	NM_001174084		Approved		uc001kti.2	Q9UGP5	OTTHUMG00000018933	ENST00000370162.3:c.867C>A	10.37:g.103344383G>T	ENSP00000359181:p.Phe289Leu					DPCD_uc010qpz.1_Intron|POLL_uc001ktd.1_5'Flank|POLL_uc001kte.1_5'Flank|POLL_uc001kth.1_Intron|POLL_uc001kti.1_Missense_Mutation_p.F289L|POLL_uc001ktj.1_Missense_Mutation_p.F289L|POLL_uc001ktf.2_Intron|POLL_uc001ktk.1_Intron|POLL_uc010qqa.1_Intron|POLL_uc010qqb.1_Intron|POLL_uc001ktm.2_Missense_Mutation_p.F289L|POLL_uc001ktl.2_Missense_Mutation_p.F201L|POLL_uc010qqc.1_Intron|POLL_uc010qqd.1_Missense_Mutation_p.S147Y	p.F289L	NM_013274	NP_037406	Q9UGP5	DPOLL_HUMAN		Epithelial(162;1.55e-08)|all cancers(201;6.64e-07)	4	1633	-		Colorectal(252;0.234)	289					D3DR76|Q5JQP5|Q6NUM2|Q9BTN8|Q9HA10|Q9HB35	Missense_Mutation	SNP	ENST00000370162.3	37	c.867C>A	CCDS7513.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.12|14.12	2.439213|2.439213	0.43326|0.43326	.|.	.|.	ENSG00000166169|ENSG00000166169	ENST00000299206;ENST00000370174;ENST00000370169;ENST00000370172;ENST00000370162;ENST00000370157;ENST00000426919|ENST00000370164;ENST00000436284;ENST00000454524	T;T;T;T;T|.	0.36878|.	1.23;1.23;1.23;1.23;1.23|.	6.04|6.04	2.79|2.79	0.32731|0.32731	DNA-directed DNA polymerase X (1);DNA-directed DNA polymerase, family X, beta-like, N-terminal (2);|.	0.105219|.	0.64402|.	D|.	0.000002|.	T|T	0.27933|0.27933	0.0688|0.0688	N|N	0.05306|0.05306	-0.075|-0.075	0.30065|0.30065	N|N	0.810561|0.810561	B|P	0.23990|0.45078	0.095|0.85	B|P	0.12156|0.49276	0.007|0.605	T|T	0.27571|0.27571	-1.0070|-1.0070	10|8	0.12430|0.72032	T|D	0.62|0.01	-0.0034|-0.0034	12.8006|12.8006	0.57584|0.57584	0.2064:0.0:0.7936:0.0|0.2064:0.0:0.7936:0.0	.|.	289|147	Q9UGP5|B7Z1M4	DPOLL_HUMAN|.	L|Y	289;289;289;201;289;289;300|147	ENSP00000299206:F289L;ENSP00000359188:F289L;ENSP00000359191:F201L;ENSP00000359181:F289L;ENSP00000411678:F300L|.	ENSP00000299206:F289L|ENSP00000359183:S147Y	F|S	-|-	3|2	2|0	POLL|POLL	103334373|103334373	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.879000|0.879000	0.50718|0.50718	3.872000|3.872000	0.56085|0.56085	0.898000|0.898000	0.36418|0.36418	-0.258000|-0.258000	0.10820|0.10820	TTC|TCC		0.562	POLL-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049946.1	NM_013274		14	51	1	0	1.05e-09	1.11e-09	14	51				
CFAP58	159686	broad.mit.edu	37	10	106152107	106152107	+	Silent	SNP	G	G	C			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr10:106152107G>C	ENST00000369704.3	+	10	1616	c.1482G>C	c.(1480-1482)gtG>gtC	p.V494V		NM_001008723.1	NP_001008723.1	Q5T655	CC147_HUMAN		494						extracellular space (GO:0005615)				NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	52		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189)		ATGAAGCTGTGAGATCAGACA	0.299																																						uc001kyh.2		NA																	0				ovary(2)|central_nervous_system(2)|skin(1)	5						c.(1480-1482)GTG>GTC		coiled-coil domain containing 147							55.0	62.0	60.0					10																	106152107		2202	4298	6500	SO:0001819	synonymous_variant	159686							g.chr10:106152107G>C																												ENST00000369704.3:c.1482G>C	10.37:g.106152107G>C							p.V494V	NM_001008723	NP_001008723	Q5T655	CC147_HUMAN		Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189)	10	1616	+		Colorectal(252;0.103)|Breast(234;0.122)	494			Potential.		D3DRA6|Q8NA27	Silent	SNP	ENST00000369704.3	37	c.1482G>C	CCDS31282.1																																																																																				0.299	CCDC147-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050216.1			22	117	0	0	0	0	22	117				
ADRB1	153	broad.mit.edu	37	10	115804636	115804636	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr10:115804636C>T	ENST00000369295.2	+	1	831	c.745C>T	c.(745-747)Cgc>Tgc	p.R249C		NM_000684.2	NP_000675.1	P08588	ADRB1_HUMAN	adrenoceptor beta 1	249					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating adrenergic receptor signaling pathway (GO:0071880)|aging (GO:0007568)|apoptotic process (GO:0006915)|brown fat cell differentiation (GO:0050873)|diet induced thermogenesis (GO:0002024)|fear response (GO:0042596)|glycogen catabolic process (GO:0005980)|heat generation (GO:0031649)|lipid homeostasis (GO:0055088)|memory (GO:0007613)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of smooth muscle contraction (GO:0045986)|negative regulation of urine volume (GO:0035811)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of cation channel activity (GO:2001259)|positive regulation of cell growth involved in cardiac muscle cell development (GO:0061051)|positive regulation of heart rate by epinephrine-norepinephrine (GO:0001996)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of renin secretion into blood stream (GO:1900135)|positive regulation of saliva secretion (GO:0046878)|positive regulation of systemic arterial blood pressure (GO:0003084)|positive regulation of the force of heart contraction by norepinephrine (GO:0003061)|protein localization to organelle (GO:0033365)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|response to cold (GO:0009409)|Rho protein signal transduction (GO:0007266)|sensory perception of pain (GO:0019233)|vasodilation by norepinephrine-epinephrine involved in regulation of systemic arterial blood pressure (GO:0002025)|wound healing (GO:0042060)	early endosome (GO:0005769)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	alpha-2A adrenergic receptor binding (GO:0031694)|beta-adrenergic receptor activity (GO:0004939)|beta1-adrenergic receptor activity (GO:0004940)|dopamine binding (GO:0035240)|drug binding (GO:0008144)|epinephrine binding (GO:0051379)|norepinephrine binding (GO:0051380)|PDZ domain binding (GO:0030165)|protein heterodimerization activity (GO:0046982)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|receptor signaling protein activity (GO:0005057)			large_intestine(4)|lung(1)|upper_aerodigestive_tract(1)	6		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0124)|all cancers(201;0.0298)	Acebutolol(DB01193)|Alprenolol(DB00866)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amphetamine(DB00182)|Arbutamine(DB01102)|Asenapine(DB06216)|Atenolol(DB00335)|Betaxolol(DB00195)|Bethanidine(DB00217)|Bevantolol(DB01295)|Bisoprolol(DB00612)|Bopindolol(DB08807)|Bupranolol(DB08808)|Cabergoline(DB00248)|Carteolol(DB00521)|Carvedilol(DB01136)|Clenbuterol(DB01407)|Desipramine(DB01151)|Dobutamine(DB00841)|Dronedarone(DB04855)|Droxidopa(DB06262)|Ephedra(DB01363)|Epinephrine(DB00668)|Esmolol(DB00187)|Fenoterol(DB01288)|Isoetarine(DB00221)|Isoprenaline(DB01064)|Labetalol(DB00598)|Levobunolol(DB01210)|Loxapine(DB00408)|Mephentermine(DB01365)|Metipranolol(DB01214)|Metoprolol(DB00264)|Mirtazapine(DB00370)|Nadolol(DB01203)|Nebivolol(DB04861)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxprenolol(DB01580)|Penbutolol(DB01359)|Phenylpropanolamine(DB00397)|Pindolol(DB00960)|Pirbuterol(DB01291)|Practolol(DB01297)|Propranolol(DB00571)|Pseudoephedrine(DB00852)|Salbutamol(DB01001)|Sotalol(DB00489)|Timolol(DB00373)|Trimipramine(DB00726)	GCGGGTGTTCCGCGAGGCCCA	0.687																																						uc001lba.2		NA																	0					0						c.(745-747)CGC>TGC		beta-1-adrenergic receptor	Acebutolol(DB01193)|Alprenolol(DB00866)|Amiodarone(DB01118)|Arbutamine(DB01102)|Atenolol(DB00335)|Betaxolol(DB00195)|Bevantolol(DB01295)|Bisoprolol(DB00612)|Bretylium(DB01158)|Carteolol(DB00521)|Carvedilol(DB01136)|Desipramine(DB01151)|Dobutamine(DB00841)|Dopamine(DB00988)|Epinephrine(DB00668)|Esmolol(DB00187)|Isoetharine(DB00221)|Isoproterenol(DB01064)|Labetalol(DB00598)|Levobunolol(DB01210)|Metipranolol(DB01214)|Metoprolol(DB00264)|Nadolol(DB01203)|Norepinephrine(DB00368)|Oxprenolol(DB01580)|Penbutolol(DB01359)|Pindolol(DB00960)|Practolol(DB01297)|Propranolol(DB00571)|Risperidone(DB00734)|Timolol(DB00373)|Ziprasidone(DB00246)						41.0	37.0	38.0					10																	115804636		2202	4299	6501	SO:0001583	missense	153				positive regulation of cAMP biosynthetic process	integral to plasma membrane	alpha-2A adrenergic receptor binding|beta1-adrenergic receptor activity|protein heterodimerization activity	g.chr10:115804636C>T	J03019	CCDS7586.1	10q25.3	2012-08-08	2012-05-09		ENSG00000043591	ENSG00000043591		"""GPCR / Class A : Adrenoceptors : beta"""	285	protein-coding gene	gene with protein product		109630	"""adrenergic, beta-1-, receptor"""	ADRB1R			Standard	NM_000684		Approved		uc001lba.3	P08588	OTTHUMG00000019079	ENST00000369295.2:c.745C>T	10.37:g.115804636C>T	ENSP00000358301:p.Arg249Cys						p.R249C	NM_000684	NP_000675	P08588	ADRB1_HUMAN		Epithelial(162;0.0124)|all cancers(201;0.0298)	1	831	+		Colorectal(252;0.172)|Breast(234;0.188)	249			Cytoplasmic (By similarity).		B0LPE2|Q5T5Y4|Q9UKG7|Q9UKG8	Missense_Mutation	SNP	ENST00000369295.2	37	c.745C>T	CCDS7586.1	.	.	.	.	.	.	.	.	.	.	C	15.89	2.966370	0.53507	.	.	ENSG00000043591	ENST00000369295	T	0.39406	1.08	4.46	2.54	0.30619	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	U	0.000000	T	0.52240	0.1722	L	0.55743	1.74	0.53005	D	0.99996	D	0.89917	1.0	D	0.65233	0.933	T	0.45571	-0.9252	10	0.49607	T	0.09	.	8.7868	0.34825	0.2769:0.4532:0.2699:0.0	.	249	P08588	ADRB1_HUMAN	C	249	ENSP00000358301:R249C	ENSP00000358301:R249C	R	+	1	0	ADRB1	115794626	0.999000	0.42202	1.000000	0.80357	0.952000	0.60782	0.691000	0.25467	0.310000	0.22990	-0.315000	0.08773	CGC		0.687	ADRB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050448.1			10	22	0	0	0	0	10	22				
PNLIPRP1	5407	broad.mit.edu	37	10	118354333	118354333	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr10:118354333G>C	ENST00000528052.1	+	5	493	c.422G>C	c.(421-423)cGa>cCa	p.R141P	PNLIPRP1_ENST00000534537.1_Missense_Mutation_p.R141P|PNLIPRP1_ENST00000358834.4_Missense_Mutation_p.R141P			P54315	LIPR1_HUMAN	pancreatic lipase-related protein 1	141					lipid metabolic process (GO:0006629)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|triglyceride lipase activity (GO:0004806)			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	38				all cancers(201;0.0161)		AACAACGTGCGAGTGGTGGGC	0.592																																						uc001lco.1		NA																	0				ovary(1)|breast(1)	2						c.(421-423)CGA>CCA		pancreatic lipase-related protein 1 precursor							88.0	74.0	78.0					10																	118354333		2203	4300	6503	SO:0001583	missense	5407				lipid metabolic process		calcium ion binding|triglyceride lipase activity	g.chr10:118354333G>C	BC025784	CCDS7595.1	10q26.12	2006-07-04			ENSG00000187021	ENSG00000187021			9156	protein-coding gene	gene with protein product		604422				1379598	Standard	NM_006229		Approved	PLRP1	uc001lco.1	P54315	OTTHUMG00000019109	ENST00000528052.1:c.422G>C	10.37:g.118354333G>C	ENSP00000433933:p.Arg141Pro					PNLIPRP1_uc001lcp.2_Missense_Mutation_p.R141P|PNLIPRP1_uc009xys.1_RNA	p.R141P	NM_006229	NP_006220	P54315	LIPR1_HUMAN		all cancers(201;0.0161)	5	440	+			141					Q68D83|Q68DR6|Q8TAU2|Q9BS82	Missense_Mutation	SNP	ENST00000528052.1	37	c.422G>C	CCDS7595.1	.	.	.	.	.	.	.	.	.	.	G	18.88	3.717667	0.68844	.	.	ENSG00000187021	ENST00000531984;ENST00000358834;ENST00000528052;ENST00000534537	D;D;D;D	0.91180	-2.8;-2.8;-2.8;-2.8	5.31	3.44	0.39384	Lipase, N-terminal (1);	0.000000	0.64402	D	0.000002	D	0.93993	0.8076	M	0.73753	2.245	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93240	0.6625	10	0.87932	D	0	-9.3323	9.7009	0.40187	0.0752:0.0:0.7838:0.1409	.	141	P54315	LIPR1_HUMAN	P	141	ENSP00000436123:R141P;ENSP00000351695:R141P;ENSP00000433933:R141P;ENSP00000434159:R141P	ENSP00000351695:R141P	R	+	2	0	PNLIPRP1	118344323	1.000000	0.71417	0.023000	0.16930	0.875000	0.50365	3.803000	0.55560	0.725000	0.32318	0.655000	0.94253	CGA		0.592	PNLIPRP1-011	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000384633.1	NM_006229		10	62	0	0	0	0	10	62				
PDZD8	118987	broad.mit.edu	37	10	119044202	119044202	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr10:119044202G>A	ENST00000334464.5	-	5	2281	c.2042C>T	c.(2041-2043)tCa>tTa	p.S681L	PDZD8_ENST00000482496.1_5'UTR	NM_173791.3	NP_776152.1	Q8NEN9	PDZD8_HUMAN	PDZ domain containing 8	681					cytoskeleton organization (GO:0007010)|intracellular signal transduction (GO:0035556)|regulation of cell morphogenesis (GO:0022604)|viral process (GO:0016032)	membrane (GO:0016020)	metal ion binding (GO:0046872)			kidney(3)|large_intestine(8)|lung(24)|upper_aerodigestive_tract(3)	38		Colorectal(252;0.19)		all cancers(201;0.0121)		AATTTCTGATGATTCCCATGT	0.413																																						uc001lde.1		NA																	0					0						c.(2041-2043)TCA>TTA		PDZ domain containing 8							98.0	96.0	96.0					10																	119044202		2203	4300	6503	SO:0001583	missense	118987				intracellular signal transduction		metal ion binding	g.chr10:119044202G>A	AL122051	CCDS7600.1	10q26.12	2006-01-24		2006-01-24	ENSG00000165650	ENSG00000165650			26974	protein-coding gene	gene with protein product		614235		PDZK8		12477932	Standard	NM_173791		Approved	bA129M16.2, FLJ34427	uc001lde.1	Q8NEN9	OTTHUMG00000019122	ENST00000334464.5:c.2042C>T	10.37:g.119044202G>A	ENSP00000334642:p.Ser681Leu						p.S681L	NM_173791	NP_776152	Q8NEN9	PDZD8_HUMAN		all cancers(201;0.0121)	5	2241	-		Colorectal(252;0.19)	681					Q86WE0|Q86WE5|Q9UFF1	Missense_Mutation	SNP	ENST00000334464.5	37	c.2042C>T	CCDS7600.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.938058	0.73557	.	.	ENSG00000165650	ENST00000334464	D	0.89810	-2.57	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	D	0.92051	0.7481	L	0.34521	1.04	0.58432	D	0.999999	D	0.76494	0.999	D	0.80764	0.994	D	0.92425	0.5949	10	0.72032	D	0.01	-12.4416	20.2043	0.98273	0.0:0.0:1.0:0.0	.	681	Q8NEN9	PDZD8_HUMAN	L	681	ENSP00000334642:S681L	ENSP00000334642:S681L	S	-	2	0	PDZD8	119034192	1.000000	0.71417	0.979000	0.43373	0.835000	0.47333	7.540000	0.82074	2.779000	0.95612	0.591000	0.81541	TCA		0.413	PDZD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050565.1	NM_173791		12	100	0	0	0	0	12	100				
TACC2	10579	broad.mit.edu	37	10	123976183	123976183	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr10:123976183C>G	ENST00000369005.1	+	11	7726	c.7386C>G	c.(7384-7386)atC>atG	p.I2462M	TACC2_ENST00000358010.1_Missense_Mutation_p.I608M|TACC2_ENST00000369000.1_Missense_Mutation_p.I162M|TACC2_ENST00000453444.2_Missense_Mutation_p.I2466M|TACC2_ENST00000334433.3_Missense_Mutation_p.I2462M|TACC2_ENST00000369004.3_Missense_Mutation_p.I552M|TACC2_ENST00000515603.1_Missense_Mutation_p.I2417M|TACC2_ENST00000260733.3_Missense_Mutation_p.I540M|TACC2_ENST00000515273.1_Missense_Mutation_p.I2466M|TACC2_ENST00000513429.1_Missense_Mutation_p.I608M|TACC2_ENST00000360561.3_Missense_Mutation_p.I540M|TACC2_ENST00000368999.1_Missense_Mutation_p.I552M|TACC2_ENST00000369001.1_Missense_Mutation_p.I166M	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	2462					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	nuclear hormone receptor binding (GO:0035257)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				CACCAGTGATCTCTGCGGTGG	0.537																																						uc001lfv.2		NA																	0				ovary(4)|breast(3)|skin(2)|central_nervous_system(1)	10						c.(7384-7386)ATC>ATG		transforming, acidic coiled-coil containing							119.0	104.0	109.0					10																	123976183		2203	4300	6503	SO:0001583	missense	10579					microtubule organizing center|nucleus	nuclear hormone receptor binding	g.chr10:123976183C>G	AF095791	CCDS7625.1, CCDS7626.1, CCDS7627.1, CCDS7628.1	10q26	2008-07-29			ENSG00000138162	ENSG00000138162			11523	protein-coding gene	gene with protein product		605302				14767476	Standard	XM_005269388		Approved	AZU-1	uc001lfv.3	O95359	OTTHUMG00000019181	ENST00000369005.1:c.7386C>G	10.37:g.123976183C>G	ENSP00000358001:p.Ile2462Met					TACC2_uc001lfw.2_Missense_Mutation_p.I608M|TACC2_uc009xzx.2_Missense_Mutation_p.I2417M|TACC2_uc010qtv.1_Missense_Mutation_p.I2466M|TACC2_uc001lfx.2_Missense_Mutation_p.I166M|TACC2_uc001lfy.2_Missense_Mutation_p.I162M|TACC2_uc001lfz.2_Missense_Mutation_p.I540M|TACC2_uc001lga.2_Missense_Mutation_p.I540M|TACC2_uc009xzy.2_Missense_Mutation_p.I552M|TACC2_uc001lgb.2_Missense_Mutation_p.I497M|TACC2_uc010qtw.1_Missense_Mutation_p.I557M	p.I2462M	NM_206862	NP_996744	O95359	TACC2_HUMAN			11	7746	+		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)	2462					Q4VXL0|Q4VXL3|Q4VXL6|Q4VXL7|Q5U5T7|Q86WG6|Q86WG7|Q8TCK9|Q9BVQ1|Q9NZ41|Q9NZR5	Missense_Mutation	SNP	ENST00000369005.1	37	c.7386C>G	CCDS7626.1	.	.	.	.	.	.	.	.	.	.	C	12.37	1.918707	0.33908	.	.	ENSG00000138162	ENST00000369005;ENST00000513429;ENST00000515273;ENST00000515603;ENST00000334433;ENST00000358010;ENST00000453444;ENST00000340076;ENST00000369001;ENST00000369000;ENST00000360561;ENST00000368999;ENST00000369004;ENST00000260733;ENST00000514539;ENST00000496913;ENST00000508411	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.18810	3.98;3.58;4.02;4.04;3.98;3.58;4.02;2.2;2.19;3.44;3.44;3.42;3.46;3.05;2.47	5.51	5.51	0.81932	.	0.000000	0.34435	N	0.003969	T	0.41488	0.1161	M	0.62723	1.935	0.30498	N	0.770679	P;D;P;D;D;P;P;P;P;D	0.69078	0.941;0.997;0.868;0.996;0.997;0.842;0.842;0.483;0.951;0.995	P;D;P;D;D;P;P;P;P;D	0.67548	0.672;0.952;0.653;0.926;0.952;0.672;0.672;0.452;0.672;0.931	T	0.37572	-0.9700	10	0.45353	T	0.12	-16.062	13.9044	0.63826	0.2772:0.7228:0.0:0.0	.	557;2466;552;2417;2466;540;540;162;608;2462	E9PGB3;E9PBC6;D6RAA5;E7EMZ9;B7ZMJ9;O95359-6;O95359-1;O95359-2;O95359-5;O95359	.;.;.;.;.;.;.;.;.;TACC2_HUMAN	M	2462;608;2466;2417;2462;608;2466;2452;166;162;540;552;552;540;557;197;42	ENSP00000358001:I2462M;ENSP00000425062:I608M;ENSP00000424467:I2466M;ENSP00000427618:I2417M;ENSP00000334280:I2462M;ENSP00000350701:I608M;ENSP00000395048:I2466M;ENSP00000357997:I166M;ENSP00000357996:I162M;ENSP00000353763:I540M;ENSP00000357995:I552M;ENSP00000422815:I552M;ENSP00000260733:I540M;ENSP00000420967:I557M;ENSP00000422725:I197M	ENSP00000260733:I540M	I	+	3	3	TACC2	123966173	1.000000	0.71417	0.995000	0.50966	0.035000	0.12851	1.035000	0.30216	2.590000	0.87494	0.561000	0.74099	ATC		0.537	TACC2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090004.1			4	101	0	0	0	0	4	101				
DOCK1	1793	broad.mit.edu	37	10	129207596	129207596	+	Silent	SNP	G	G	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr10:129207596G>A	ENST00000280333.6	+	42	4330	c.4221G>A	c.(4219-4221)gtG>gtA	p.V1407V		NM_001380.3	NP_001371.1	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1	1407	DHR-2.				apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|hematopoietic progenitor cell differentiation (GO:0002244)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|phagocytosis, engulfment (GO:0006911)|positive regulation of GTPase activity (GO:0043547)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)			NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		GCTTCACAGTGAAGCCCAAAC	0.493																																						uc001ljt.2		NA																	0				central_nervous_system(4)|ovary(2)|lung(1)|breast(1)|kidney(1)	9						c.(4219-4221)GTG>GTA		dedicator of cytokinesis 1							124.0	120.0	122.0					10																	129207596		1960	4163	6123	SO:0001819	synonymous_variant	1793				apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction	cytosol|membrane	GTP binding|GTPase activator activity|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding	g.chr10:129207596G>A	D50857	CCDS73222.1	10q26.13-q26.3	2009-10-28			ENSG00000150760	ENSG00000150760			2987	protein-coding gene	gene with protein product	"""DOwnstream of CrK"""	601403	"""dedicator of cyto-kinesis 1"""			8657152, 8661160	Standard	XM_006717681		Approved	DOCK180, ced5	uc001ljt.3	Q14185	OTTHUMG00000019249	ENST00000280333.6:c.4221G>A	10.37:g.129207596G>A						DOCK1_uc010qun.1_Silent_p.V1428V|DOCK1_uc009yaq.2_Silent_p.V402V	p.V1407V	NM_001380	NP_001371	Q14185	DOCK1_HUMAN		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)	42	4285	+		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)	1407			DHR-2.		A9Z1Z5	Silent	SNP	ENST00000280333.6	37	c.4221G>A																																																																																					0.493	DOCK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050979.2	NM_001380		12	95	0	0	0	0	12	95				
EBF3	253738	broad.mit.edu	37	10	131640406	131640406	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr10:131640406G>A	ENST00000355311.5	-	13	1418	c.1346C>T	c.(1345-1347)tCa>tTa	p.S449L	EBF3_ENST00000368648.3_Missense_Mutation_p.S440L|MIR4297_ENST00000579857.1_RNA			Q9H4W6	COE3_HUMAN	early B-cell factor 3	449					multicellular organismal development (GO:0007275)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	44		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)		OV - Ovarian serous cystadenocarcinoma(35;0.00513)		TGACGTCTCTGACACGTTGAC	0.612																																						uc001lki.1		NA																	0				central_nervous_system(1)|pancreas(1)	2						c.(1318-1320)TCA>TTA		early B-cell factor 3							265.0	191.0	216.0					10																	131640406		2203	4300	6503	SO:0001583	missense	253738				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding|protein binding	g.chr10:131640406G>A		CCDS31314.1	10q26.3	2007-03-30			ENSG00000108001	ENSG00000108001			19087	protein-coding gene	gene with protein product		607407				12355068	Standard	NM_001005463		Approved	COE3, DKFZp667B0210	uc001lki.2	Q9H4W6	OTTHUMG00000019265	ENST00000355311.5:c.1346C>T	10.37:g.131640406G>A	ENSP00000347463:p.Ser449Leu						p.S440L	NM_001005463	NP_001005463	Q9H4W6	COE3_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;0.00513)	13	1378	-		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)	449					A0AUY1|Q5T6H9|Q9H4W5	Missense_Mutation	SNP	ENST00000355311.5	37	c.1319C>T		.	.	.	.	.	.	.	.	.	.	G	22.7	4.323052	0.81580	.	.	ENSG00000108001	ENST00000355311;ENST00000368648	T;T	0.63744	-0.06;-0.06	5.28	5.28	0.74379	.	0.057830	0.64402	D	0.000001	T	0.69682	0.3138	M	0.72118	2.19	0.80722	D	1	B	0.26120	0.142	B	0.38985	0.287	T	0.65199	-0.6226	10	0.26408	T	0.33	-12.4628	19.2947	0.94117	0.0:0.0:1.0:0.0	.	440	Q9H4W6-2	.	L	449;440	ENSP00000347463:S449L;ENSP00000357637:S440L	ENSP00000347463:S449L	S	-	2	0	EBF3	131530396	1.000000	0.71417	0.935000	0.37517	0.939000	0.58152	9.771000	0.98977	2.632000	0.89209	0.655000	0.94253	TCA		0.612	EBF3-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051015.2	NM_001005463		35	92	0	0	0	0	35	92				
JAKMIP3	282973	broad.mit.edu	37	10	133946815	133946815	+	Splice_Site	SNP	G	G	C			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr10:133946815G>C	ENST00000298622.4	+	3	771		c.e3-1			NM_001105521.2	NP_001098991.1	Q5VZ66	JKIP3_HUMAN	Janus kinase and microtubule interacting protein 3							Golgi apparatus (GO:0005794)				breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	31		all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224)		TCTCCTTGTAGATGGAGGAGA	0.537																																						uc001lkx.3		NA																	0				breast(1)	1						c.e3-1		Janus kinase and microtubule interacting protein							36.0	37.0	37.0					10																	133946815		1960	4152	6112	SO:0001630	splice_region_variant	282973							g.chr10:133946815G>C	AL832756	CCDS44494.1	10q26.3	2009-04-23	2009-04-23	2008-01-28	ENSG00000188385	ENSG00000188385			23523	protein-coding gene	gene with protein product	"""neuroendocrine long coiled-coil 2"""	611198	"""chromosome 10 open reading frame 39"", ""chromosome 10 open reading frame 14"""	C10orf39, C10orf14		15277531, 17572408	Standard	NM_001105521		Approved	FLJ37857, NECC2, KIAA4091, bA140A10.5	uc001lkx.4	Q5VZ66	OTTHUMG00000150167	ENST00000298622.4:c.634-1G>C	10.37:g.133946815G>C							p.M212_splice	NM_001105521	NP_001098991				OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224)	3	634	+		all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175)						A6PW00|Q69YM6|Q6ZT29	Splice_Site	SNP	ENST00000298622.4	37	c.634_splice	CCDS44494.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.254428	0.80135	.	.	ENSG00000188385	ENST00000298622	.	.	.	4.49	4.49	0.54785	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.3423	0.87301	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	JAKMIP3	133796805	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.123000	0.94387	2.323000	0.78572	0.557000	0.71058	.		0.537	JAKMIP3-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051049.3	NM_194303	Intron	3	10	0	0	0	0	3	10				
PTDSS2	81490	broad.mit.edu	37	11	479110	479110	+	Silent	SNP	G	G	C			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr11:479110G>C	ENST00000308020.5	+	4	569	c.393G>C	c.(391-393)gtG>gtC	p.V131V	PTDSS2_ENST00000530087.1_3'UTR	NM_030783.1	NP_110410.1	Q9BVG9	PTSS2_HUMAN	phosphatidylserine synthase 2	131					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylserine biosynthetic process (GO:0006659)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	CDP-diacylglycerol-serine O-phosphatidyltransferase activity (GO:0003882)			autonomic_ganglia(1)|breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|skin(1)	9		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;2.76e-26)|Epithelial(43;2.56e-25)|OV - Ovarian serous cystadenocarcinoma(40;7.54e-20)|BRCA - Breast invasive adenocarcinoma(625;8.76e-05)|Lung(200;0.0407)|LUSC - Lung squamous cell carcinoma(625;0.0735)	Phosphatidylserine(DB00144)	GGCTCTGCGTGAGTGTGGTCT	0.567																																						uc001lpj.2		NA																	0					0						c.(391-393)GTG>GTC		phosphatidylserine synthase 2	Phosphatidylserine(DB00144)						332.0	296.0	308.0					11																	479110		2203	4300	6503	SO:0001819	synonymous_variant	81490					integral to membrane		g.chr11:479110G>C	BC001210	CCDS7696.1	11p15	2008-05-02			ENSG00000174915	ENSG00000174915			15463	protein-coding gene	gene with protein product		612793				14984733	Standard	NM_030783		Approved	PSS2	uc001lpj.3	Q9BVG9	OTTHUMG00000119087	ENST00000308020.5:c.393G>C	11.37:g.479110G>C						PTDSS2_uc009ybv.1_Silent_p.V131V	p.V131V	NM_030783	NP_110410	Q9BVG9	PTSS2_HUMAN		all cancers(45;2.76e-26)|Epithelial(43;2.56e-25)|OV - Ovarian serous cystadenocarcinoma(40;7.54e-20)|BRCA - Breast invasive adenocarcinoma(625;8.76e-05)|Lung(200;0.0407)|LUSC - Lung squamous cell carcinoma(625;0.0735)	4	569	+		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	131			Helical; (Potential).			Silent	SNP	ENST00000308020.5	37	c.393G>C	CCDS7696.1																																																																																				0.567	PTDSS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239301.2			60	236	0	0	0	0	60	236				
PHRF1	57661	broad.mit.edu	37	11	605232	605232	+	Silent	SNP	G	G	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr11:605232G>A	ENST00000264555.5	+	11	1394	c.1266G>A	c.(1264-1266)ctG>ctA	p.L422L	PHRF1_ENST00000413872.2_Silent_p.L421L|PHRF1_ENST00000416188.2_Silent_p.L422L|PHRF1_ENST00000533464.1_Silent_p.L418L	NM_020901.2	NP_065952.2	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	422					mRNA processing (GO:0006397)|transcription from RNA polymerase II promoter (GO:0006366)	membrane (GO:0016020)	RNA polymerase binding (GO:0070063)|zinc ion binding (GO:0008270)			breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						TGGGGCTGCTGAGAGCGGATA	0.597																																						uc001lqe.2		NA																	0					0						c.(1264-1266)CTG>CTA		PHD and ring finger domains 1							65.0	73.0	70.0					11																	605232		2032	4191	6223	SO:0001819	synonymous_variant	57661						RNA polymerase binding|zinc ion binding	g.chr11:605232G>A	BC004950	CCDS44507.1, CCDS65987.1, CCDS65988.1, CCDS65989.1	11p15.5	2014-06-13			ENSG00000070047	ENSG00000070047		"""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, PHD-type"""	24351	protein-coding gene	gene with protein product	"""CTD binding SR like protein rA9"", ""protein phosphatase 1, regulatory subunit 125"""	611780		RNF221			Standard	XM_005253027		Approved	KIAA1542, PPP1R125	uc010qwc.2	Q9P1Y6	OTTHUMG00000165141	ENST00000264555.5:c.1266G>A	11.37:g.605232G>A						PHRF1_uc010qwc.1_Silent_p.L422L|PHRF1_uc010qwd.1_Silent_p.L421L|PHRF1_uc010qwe.1_Silent_p.L418L|PHRF1_uc009ybz.1_Silent_p.L213L|PHRF1_uc009yca.1_5'Flank	p.L422L	NM_020901	NP_065952	Q9P1Y6	PHRF1_HUMAN			11	1397	+			422					A6H8W1|B7ZM64|B9EGP0|C9JS82|Q6PJP2|Q8IVY2|Q8N2Y7|Q9BSM2	Silent	SNP	ENST00000264555.5	37	c.1266G>A																																																																																					0.597	PHRF1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000382133.1	NM_020901		33	95	0	0	0	0	33	95				
PHLDA2	7262	broad.mit.edu	37	11	2950434	2950434	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr11:2950434G>C	ENST00000314222.4	-	1	251	c.161C>G	c.(160-162)tCc>tGc	p.S54C		NM_003311.3	NP_003302.1	Q53GA4	PHLA2_HUMAN	pleckstrin homology-like domain, family A, member 2	54	PH.				apoptotic process (GO:0006915)|organ morphogenesis (GO:0009887)|placenta development (GO:0001890)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|regulation of gene expression (GO:0010468)|regulation of glycogen metabolic process (GO:0070873)	cytoplasm (GO:0005737)|membrane (GO:0016020)				central_nervous_system(1)	1		all_epithelial(84;0.000124)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)|all_lung(207;0.198)		BRCA - Breast invasive adenocarcinoma(625;0.0025)|LUSC - Lung squamous cell carcinoma(625;0.19)		CTTGAGGATGGAGTGGAAGCG	0.657																																						uc001lxa.1		NA																	0					0						c.(160-162)TCC>TGC		pleckstrin homology-like domain family A member																																				SO:0001583	missense	7262				apoptosis	cytoplasm|membrane		g.chr11:2950434G>C	AF035444	CCDS7741.1	11p15.4	2013-01-10	2003-09-26	2003-10-01	ENSG00000181649	ENSG00000181649		"""Pleckstrin homology (PH) domain containing"""	12385	protein-coding gene	gene with protein product		602131	"""tumor suppressing subtransferable candidate 3"""	TSSC3		9328465, 9403053	Standard	NM_003311		Approved	IPL, BWR1C, HLDA2	uc001lxa.1	Q53GA4	OTTHUMG00000010926	ENST00000314222.4:c.161C>G	11.37:g.2950434G>C	ENSP00000319231:p.Ser54Cys						p.S54C	NM_003311	NP_003302	Q53GA4	PHLA2_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.0025)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	217	-		all_epithelial(84;0.000124)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)|all_lung(207;0.198)	54			PH.		O00496	Missense_Mutation	SNP	ENST00000314222.4	37	c.161C>G	CCDS7741.1	.	.	.	.	.	.	.	.	.	.	G	15.79	2.937494	0.52972	.	.	ENSG00000181649	ENST00000314222	T	0.77229	-1.08	3.51	3.51	0.40186	Pleckstrin homology-type (1);Pleckstrin homology domain (1);	0.000000	0.85682	U	0.000000	D	0.86197	0.5875	M	0.72894	2.215	0.43275	D	0.995231	D	0.89917	1.0	D	0.70935	0.971	D	0.88175	0.2867	10	0.62326	D	0.03	-33.9967	15.3955	0.74790	0.0:0.0:1.0:0.0	.	54	Q53GA4	PHLA2_HUMAN	C	54	ENSP00000319231:S54C	ENSP00000319231:S54C	S	-	2	0	PHLDA2	2907010	1.000000	0.71417	1.000000	0.80357	0.284000	0.27059	4.466000	0.60148	1.660000	0.50760	0.313000	0.20887	TCC		0.657	PHLDA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030116.1	NM_003311		8	45	0	0	0	0	8	45				
DCHS1	8642	broad.mit.edu	37	11	6662141	6662141	+	Missense_Mutation	SNP	C	C	T	rs143767864		TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr11:6662141C>T	ENST00000299441.3	-	2	1115	c.704G>A	c.(703-705)cGg>cAg	p.R235Q		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	235	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R235Q(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTGGGCCCTCCGGGGGGGTGA	0.587													C|||	1	0.000199681	0.0	0.0	5008	,	,		18551	0.0		0.001	False		,,,				2504	0.0					uc001mem.1		NA																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(3)|large_intestine(1)|pancreas(1)	5						c.(703-705)CGG>CAG		dachsous 1 precursor		C	GLN/ARG	1,4401	2.1+/-5.4	0,1,2200	100.0	102.0	101.0		704	4.7	0.9	11	dbSNP_134	101	5,8587	4.3+/-15.6	0,5,4291	yes	missense	DCHS1	NM_003737.2	43	0,6,6491	TT,TC,CC		0.0582,0.0227,0.0462	probably-damaging	235/3299	6662141	6,12988	2201	4296	6497	SO:0001583	missense	8642				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr11:6662141C>T	AB000895	CCDS7771.1	11p15.4	2013-10-04	2013-10-04	2004-09-03	ENSG00000166341	ENSG00000166341		"""Cadherins / Cadherin-related"""	13681	protein-coding gene	gene with protein product	"""cadherin-related family member 6"""	603057	"""protocadherin 16"", ""dachsous 1 (Drosophila)"""	CDH25, PCDH16		9199196	Standard	XM_005253207		Approved	FIB1, KIAA1773, FLJ11790, CDHR6	uc001mem.1	Q96JQ0	OTTHUMG00000133398	ENST00000299441.3:c.704G>A	11.37:g.6662141C>T	ENSP00000299441:p.Arg235Gln						p.R235Q	NM_003737	NP_003728	Q96JQ0	PCD16_HUMAN		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	2	1114	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)	235			Cadherin 2.|Extracellular (Potential).		O15098	Missense_Mutation	SNP	ENST00000299441.3	37	c.704G>A	CCDS7771.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	14.63	2.592815	0.46214	2.27E-4	5.82E-4	ENSG00000166341	ENST00000299441	T	0.52295	0.67	4.71	4.71	0.59529	Cadherin (4);Cadherin-like (1);	0.000000	0.42420	D	0.000718	T	0.66799	0.2826	M	0.76433	2.335	0.42686	D	0.993569	D	0.76494	0.999	D	0.79784	0.993	T	0.64313	-0.6437	10	0.19590	T	0.45	.	17.0062	0.86393	0.0:1.0:0.0:0.0	.	235	Q96JQ0	PCD16_HUMAN	Q	235	ENSP00000299441:R235Q	ENSP00000299441:R235Q	R	-	2	0	DCHS1	6618717	0.992000	0.36948	0.943000	0.38184	0.399000	0.30720	3.037000	0.49775	2.312000	0.78011	0.544000	0.68410	CGG		0.587	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257258.1	NM_003737		10	145	0	0	0	0	10	145				
SBF2	81846	broad.mit.edu	37	11	9875240	9875240	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr11:9875240C>G	ENST00000256190.8	-	20	2520	c.2383G>C	c.(2383-2385)Gag>Cag	p.E795Q	RP11-1H15.2_ENST00000533659.1_RNA	NM_030962.3	NP_112224.1	Q86WG5	MTMRD_HUMAN	SET binding factor 2	795					cell death (GO:0008219)|myelination (GO:0042552)|positive regulation of Rab GTPase activity (GO:0032851)|protein tetramerization (GO:0051262)	membrane (GO:0016020)|vacuolar membrane (GO:0005774)	phosphatase activity (GO:0016791)|phosphatase regulator activity (GO:0019208)|phosphatidylinositol binding (GO:0035091)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48				all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)		TCATAGCTCTCAGCTACACTT	0.373																																						uc001mib.2		NA																	0				upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3						c.(2383-2385)GAG>CAG		SET binding factor 2							186.0	168.0	174.0					11																	9875240		2201	4294	6495	SO:0001583	missense	81846				myelination	cytoplasm|membrane	phosphatase activity|protein binding	g.chr11:9875240C>G	AB051553	CCDS31427.1	11p15.3	2014-09-17	2004-11-12	2004-11-12	ENSG00000133812	ENSG00000133812		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"", ""DENN/MADD domain containing"", ""Pleckstrin homology (PH) domain containing"""	2135	protein-coding gene	gene with protein product	"""myotubularin related 13"""	607697	"""Charcot-Marie-Tooth neuropathy 4B2 (autosomal recessive, with myelin outfolding)"", ""DENN/MADD domain containing 7B"""	CMT4B2		10644431	Standard	NM_030962		Approved	KIAA1766, MTMR13, DENND7B	uc001mib.2	Q86WG5	OTTHUMG00000165890	ENST00000256190.8:c.2383G>C	11.37:g.9875240C>G	ENSP00000256190:p.Glu795Gln					SBF2_uc001mif.3_Missense_Mutation_p.E551Q|uc001mig.2_Intron	p.E795Q	NM_030962	NP_112224	Q86WG5	MTMRD_HUMAN		all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)	20	2521	-			795					Q3MJF0|Q68DQ3|Q6P459|Q6PJD1|Q7Z325|Q7Z621|Q86VE2|Q96FE2|Q9C097	Missense_Mutation	SNP	ENST00000256190.8	37	c.2383G>C	CCDS31427.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.938334	0.92526	.	.	ENSG00000133812	ENST00000256190	D	0.86432	-2.12	5.63	5.63	0.86233	.	0.047151	0.85682	D	0.000000	D	0.91994	0.7464	L	0.54323	1.7	0.80722	D	1	D	0.76494	0.999	D	0.69479	0.964	D	0.91059	0.4884	10	0.48119	T	0.1	.	20.0401	0.97581	0.0:1.0:0.0:0.0	.	795	Q86WG5	MTMRD_HUMAN	Q	795	ENSP00000256190:E795Q	ENSP00000256190:E795Q	E	-	1	0	SBF2	9831816	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.776000	0.85560	2.805000	0.96524	0.655000	0.94253	GAG		0.373	SBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386911.2	NM_030962		18	142	0	0	0	0	18	142				
MICAL2	9645	broad.mit.edu	37	11	12263802	12263802	+	Silent	SNP	C	C	G			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr11:12263802C>G	ENST00000256194.4	+	19	2667	c.2379C>G	c.(2377-2379)ctC>ctG	p.L793L	MICAL2_ENST00000342902.5_Silent_p.L793L|MICAL2_ENST00000379612.3_Intron|MICAL2_ENST00000537344.1_Intron|MICAL2_ENST00000527546.1_Intron	NM_001282663.1|NM_014632.2	NP_001269592.1|NP_055447.1	O94851	MICA2_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 2	793					actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|heart development (GO:0007507)|heart looping (GO:0001947)|oxidation-reduction process (GO:0055114)|positive regulation of transcription via serum response element binding (GO:0010735)|sulfur oxidation (GO:0019417)	nucleus (GO:0005634)	actin binding (GO:0003779)|FAD binding (GO:0071949)|NADPH:sulfur oxidoreductase activity (GO:0043914)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47				Epithelial(150;0.00552)		TCAGAGAGCTCAAGCAAGTGT	0.562																																						uc001mjz.2		NA																	0				upper_aerodigestive_tract(2)	2						c.(2377-2379)CTC>CTG		microtubule associated monoxygenase, calponin							48.0	46.0	46.0					11																	12263802		2201	4294	6495	SO:0001819	synonymous_variant	9645					cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding	g.chr11:12263802C>G	AB018293	CCDS7809.1, CCDS60726.1, CCDS60727.1, CCDS60728.1	11p15.3	2014-08-12	2013-03-26		ENSG00000133816	ENSG00000133816			24693	protein-coding gene	gene with protein product		608881				12110185	Standard	XM_005253249		Approved	KIAA0750	uc001mjz.3	O94851	OTTHUMG00000165744	ENST00000256194.4:c.2379C>G	11.37:g.12263802C>G						MICAL2_uc010rch.1_Intron|MICAL2_uc001mka.2_Silent_p.L793L|MICAL2_uc010rci.1_Silent_p.L793L|MICAL2_uc001mkb.2_Intron|MICAL2_uc001mkc.2_Intron|MICAL2_uc001mkd.2_Intron|MICAL2_uc010rcj.1_Intron|MICAL2_uc001mkf.2_RNA	p.L793L	NM_014632	NP_055447	O94851	MICA2_HUMAN		Epithelial(150;0.00552)	19	2667	+			793					B4DGZ0|B7Z849|D3DQW5|G3XAC8|Q5KTR3|Q5KTR4|Q7Z3A8	Silent	SNP	ENST00000256194.4	37	c.2379C>G	CCDS7809.1																																																																																				0.562	MICAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385993.1	NM_014632		10	29	0	0	0	0	10	29				
BTBD10	84280	broad.mit.edu	37	11	13427228	13427228	+	Silent	SNP	C	C	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr11:13427228C>T	ENST00000278174.5	-	7	1229	c.984G>A	c.(982-984)caG>caA	p.Q328Q	BTBD10_ENST00000530907.1_Silent_p.Q336Q|BTBD10_ENST00000528120.1_Silent_p.Q280Q	NM_032320.5	NP_115696.2	Q9BSF8	BTBDA_HUMAN	BTB (POZ) domain containing 10	328	Interaction with AKT family members. {ECO:0000250|UniProtKB:Q80X66}.					nucleus (GO:0005634)				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(7)|prostate(1)	20				Epithelial(150;0.0214)		CTTCTCCCATCTGTGGTGGAT	0.423																																						uc001mkz.2		NA																	0					0						c.(982-984)CAG>CAA		K+ channel tetramerization protein							231.0	214.0	220.0					11																	13427228		2200	4294	6494	SO:0001819	synonymous_variant	84280					nucleus		g.chr11:13427228C>T	AY221959	CCDS7811.1, CCDS73261.1	11p15.2	2013-01-24			ENSG00000148925	ENSG00000148925		"""BTB/POZ domain containing"""	21445	protein-coding gene	gene with protein product		615933				15556295	Standard	XM_005253164		Approved	GMRP1, GMRP-1, MGC13007	uc001mkz.3	Q9BSF8	OTTHUMG00000165787	ENST00000278174.5:c.984G>A	11.37:g.13427228C>T						BTBD10_uc010rcl.1_Silent_p.Q336Q|BTBD10_uc001mla.2_Silent_p.Q312Q|BTBD10_uc009ygn.2_RNA|BTBD10_uc010rcm.1_Silent_p.Q280Q|BTBD10_uc010rcn.1_Silent_p.Q297Q|BTBD10_uc009ygo.2_Silent_p.Q280Q	p.Q328Q	NM_032320	NP_115696	Q9BSF8	BTBDA_HUMAN		Epithelial(150;0.0214)	7	1241	-			328					B7Z228|Q86WG1	Silent	SNP	ENST00000278174.5	37	c.984G>A	CCDS7811.1																																																																																				0.423	BTBD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386200.1	NM_032320		50	147	0	0	0	0	50	147				
COPB1	1315	broad.mit.edu	37	11	14520460	14520460	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr11:14520460C>G	ENST00000249923.3	-	2	315	c.15G>C	c.(13-15)gaG>gaC	p.E5D	PSMA1_ENST00000419365.2_3'UTR|COPB1_ENST00000439561.2_Missense_Mutation_p.E5D|PSMA1_ENST00000555531.1_3'UTR	NM_016451.4	NP_057535.1	P53618	COPB_HUMAN	coatomer protein complex, subunit beta 1	5					COPI coating of Golgi vesicle (GO:0048205)|intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|viral process (GO:0016032)	COPI vesicle coat (GO:0030126)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi-associated vesicle (GO:0005798)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	36						AGCATACGTTCTCAGCCGCCG	0.343																																						uc001mli.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(13-15)GAG>GAC		coatomer protein complex, subunit beta 1							82.0	81.0	82.0					11																	14520460		2200	4294	6494	SO:0001583	missense	1315				COPI coating of Golgi vesicle|interspecies interaction between organisms|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|ER-Golgi intermediate compartment|plasma membrane	protein binding|structural molecule activity	g.chr11:14520460C>G	BC037280	CCDS7815.1	11p15.2	2011-05-20	2006-06-30	2006-06-30	ENSG00000129083	ENSG00000129083			2231	protein-coding gene	gene with protein product		600959	"""coatomer protein complex, subunit beta"""	COPB		7982906	Standard	NM_016451		Approved		uc001mlg.2	P53618	OTTHUMG00000165824	ENST00000249923.3:c.15G>C	11.37:g.14520460C>G	ENSP00000249923:p.Glu5Asp					COPB1_uc001mlg.2_Missense_Mutation_p.E5D|COPB1_uc001mlh.2_Missense_Mutation_p.E5D|PSMA1_uc010rcp.1_RNA	p.E5D	NM_016451	NP_057535	P53618	COPB_HUMAN			2	322	-			5					D3DQX0|Q6GTT7|Q9NTK2|Q9UNW7	Missense_Mutation	SNP	ENST00000249923.3	37	c.15G>C	CCDS7815.1	.	.	.	.	.	.	.	.	.	.	C	15.49	2.849360	0.51270	.	.	ENSG00000129083	ENST00000249923;ENST00000439561;ENST00000534234;ENST00000529866;ENST00000534771	T;T	0.48201	0.82;0.82	5.86	4.86	0.63082	.	0.000000	0.85682	D	0.000000	T	0.35307	0.0927	N	0.25957	0.775	0.80722	D	1	B	0.19817	0.039	B	0.21708	0.036	T	0.09143	-1.0688	10	0.30078	T	0.28	-14.2604	13.4621	0.61233	0.0:0.8979:0.0:0.1021	.	5	P53618	COPB_HUMAN	D	5	ENSP00000249923:E5D;ENSP00000397873:E5D	ENSP00000249923:E5D	E	-	3	2	COPB1	14477036	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	2.505000	0.45424	2.777000	0.95525	0.591000	0.81541	GAG		0.343	COPB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386410.1	NM_016451		12	40	0	0	0	0	12	40				
PSMA1	5682	broad.mit.edu	37	11	14539457	14539457	+	Nonsense_Mutation	SNP	G	G	C			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr11:14539457G>C	ENST00000396394.2	-	3	515	c.119C>G	c.(118-120)tCa>tGa	p.S40*	PSMA1_ENST00000418988.2_Nonsense_Mutation_p.S46*|PSMA1_ENST00000396393.1_Nonsense_Mutation_p.S40*|PSMA1_ENST00000419365.2_Nonsense_Mutation_p.S40*|PSMA1_ENST00000530457.1_Nonsense_Mutation_p.S15*|PSMA1_ENST00000555531.1_Nonsense_Mutation_p.S40*	NM_002786.3	NP_002777.1	P25786	PSA1_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 1	40					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	centrosome (GO:0005813)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|polysome (GO:0005844)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)|proteasome core complex, alpha-subunit complex (GO:0019773)	RNA binding (GO:0003723)|threonine-type endopeptidase activity (GO:0004298)			large_intestine(1)|skin(1)|upper_aerodigestive_tract(1)	3						ATGAGTTTTTGATTTCAGACC	0.318																																						uc001mlk.2		NA																	0				upper_aerodigestive_tract(1)|skin(1)	2						c.(118-120)TCA>TGA		proteasome alpha 1 subunit isoform 2							85.0	86.0	85.0					11																	14539457		2200	4294	6494	SO:0001587	stop_gained	5682				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|polysome|proteasome core complex, alpha-subunit complex	protein binding|RNA binding|threonine-type endopeptidase activity	g.chr11:14539457G>C	X61969	CCDS7816.1, CCDS31431.1	11p15.1	2005-10-10			ENSG00000129084	ENSG00000129084		"""Proteasome (prosome, macropain) subunits"""	9530	protein-coding gene	gene with protein product		602854				1398136, 2025653	Standard	NM_148976		Approved	HC2, NU, PROS30, MGC14542, MGC14575, MGC14751, MGC1667, MGC21459, MGC22853, MGC23915	uc001mlk.3	P25786	OTTHUMG00000165825	ENST00000396394.2:c.119C>G	11.37:g.14539457G>C	ENSP00000379676:p.Ser40*					PSMA1_uc001mll.2_Nonsense_Mutation_p.S46*|PSMA1_uc010rcp.1_RNA|PSMA1_uc001mlj.2_Nonsense_Mutation_p.S15*|PSMA1_uc010rcq.1_Nonsense_Mutation_p.S40*	p.S40*	NM_002786	NP_002777	P25786	PSA1_HUMAN			3	265	-			40					A8K400|Q53YE8|Q9BRV9	Nonsense_Mutation	SNP	ENST00000396394.2	37	c.119C>G	CCDS7816.1	.	.	.	.	.	.	.	.	.	.	G	18.74	3.688007	0.68271	.	.	ENSG00000129084	ENST00000419365;ENST00000396394;ENST00000396393;ENST00000530457;ENST00000418988	.	.	.	5.09	4.18	0.49190	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-2.3523	13.2783	0.60200	0.0767:0.0:0.9233:0.0	.	.	.	.	X	40;40;40;15;46	.	ENSP00000379675:S40X	S	-	2	0	PSMA1	14496033	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.044000	0.93805	1.143000	0.42306	0.655000	0.94253	TCA		0.318	PSMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386421.3	NM_002786		18	37	0	0	0	0	18	37				
NUCB2	4925	broad.mit.edu	37	11	17333590	17333590	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr11:17333590G>C	ENST00000529010.1	+	10	1054	c.835G>C	c.(835-837)Gac>Cac	p.D279H	NUCB2_ENST00000323688.6_Missense_Mutation_p.D279H|NUCB2_ENST00000458064.2_Missense_Mutation_p.D279H	NM_005013.2	NP_005004	P80303	NUCB2_HUMAN	nucleobindin 2	279	Binds to necdin. {ECO:0000250}.					cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nuclear outer membrane (GO:0005640)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)			kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						GAAAGTATATGACCCTAAAAA	0.299																																						uc001mmw.2		NA																	0					0						c.(835-837)GAC>CAC		nucleobindin 2 precursor							116.0	112.0	114.0					11																	17333590		1794	4061	5855	SO:0001583	missense	4925					cytosol|ER-Golgi intermediate compartment|extracellular space|Golgi apparatus|plasma membrane	calcium ion binding|DNA binding	g.chr11:17333590G>C	AF052642	CCDS41623.1	11p15.1	2013-01-10						"""EF-hand domain containing"""	8044	protein-coding gene	gene with protein product		608020				7811391	Standard	NM_005013		Approved	NEFA	uc001mmw.3	P80303		ENST00000529010.1:c.835G>C	11.37:g.17333590G>C	ENSP00000436455:p.Asp279His					NUCB2_uc001mmv.1_Missense_Mutation_p.D279H|NUCB2_uc009ygz.2_Missense_Mutation_p.D279H	p.D279H	NM_005013	NP_005004	P80303	NUCB2_HUMAN			10	1080	+			279			Binds to necdin (By similarity).		A8K642|D3DQX5|Q8NFT5	Missense_Mutation	SNP	ENST00000529010.1	37	c.835G>C	CCDS41623.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.6|20.6	4.009960|4.009960	0.75046|0.75046	.|.	.|.	ENSG00000070081|ENSG00000070081	ENST00000323688;ENST00000529010;ENST00000458064|ENST00000527580	D;D;D|.	0.84800|.	-1.9;-1.9;-1.9|.	5.49|5.49	4.56|4.56	0.56223|0.56223	EF-hand-like domain (1);|.	0.135179|.	0.64402|.	D|.	0.000003|.	T|.	0.73001|.	0.3531|.	M|M	0.76727|0.76727	2.345|2.345	0.44417|0.44417	D|D	0.997338|0.997338	D;P|.	0.58268|.	0.982;0.87|.	P;P|.	0.57204|.	0.798;0.815|.	T|.	0.73936|.	-0.3825|.	10|.	0.72032|.	D|.	0.01|.	-4.6999|-4.6999	13.4442|13.4442	0.61131|0.61131	0.0765:0.0:0.9235:0.0|0.0765:0.0:0.9235:0.0	.|.	279;279|.	E7EV42;P80303|.	.;NUCB2_HUMAN|.	H|S	279|86	ENSP00000320168:D279H;ENSP00000436455:D279H;ENSP00000408702:D279H|.	ENSP00000320168:D279H|.	D|X	+|+	1|2	0|2	NUCB2|NUCB2	17290166|17290166	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.997000|0.997000	0.91878|0.91878	3.898000|3.898000	0.56281|0.56281	1.317000|1.317000	0.45149|0.45149	0.650000|0.650000	0.86243|0.86243	GAC|TGA		0.299	NUCB2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387614.2	NM_005013		10	133	0	0	0	0	10	133				
ANO5	203859	broad.mit.edu	37	11	22281213	22281213	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr11:22281213C>T	ENST00000324559.8	+	15	1873	c.1556C>T	c.(1555-1557)tCa>tTa	p.S519L	CTD-3064C13.1_ENST00000526935.1_RNA	NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN	anoctamin 5	519					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	intracellular calcium activated chloride channel activity (GO:0005229)			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CTCACAGGATCATGCTTGAAC	0.378																																						uc001mqi.2		NA																	0				central_nervous_system(3)|ovary(1)	4						c.(1555-1557)TCA>TTA		anoctamin 5 isoform a							170.0	144.0	153.0					11																	22281213		2203	4300	6503	SO:0001583	missense	203859					chloride channel complex|endoplasmic reticulum membrane	chloride channel activity	g.chr11:22281213C>T	AL833271	CCDS31444.1	11p15.1	2014-09-17	2008-08-28	2008-08-28	ENSG00000171714	ENSG00000171714		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	27337	protein-coding gene	gene with protein product		608662	"""transmembrane protein 16E"", ""limb girdle muscular dystrophy 2L (autosomal recessive)"""	TMEM16E, LGMD2L		15067359, 20096397, 24692353	Standard	NM_213599		Approved	GDD1	uc001mqi.2	Q75V66	OTTHUMG00000166051	ENST00000324559.8:c.1556C>T	11.37:g.22281213C>T	ENSP00000315371:p.Ser519Leu					ANO5_uc001mqj.2_Missense_Mutation_p.S518L	p.S519L	NM_213599	NP_998764	Q75V66	ANO5_HUMAN			15	1873	+			519			Helical; (Potential).			Missense_Mutation	SNP	ENST00000324559.8	37	c.1556C>T	CCDS31444.1	.	.	.	.	.	.	.	.	.	.	C	29.2	4.988703	0.93106	.	.	ENSG00000171714	ENST00000324559	T	0.65364	-0.15	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	D	0.85256	0.5655	M	0.93328	3.405	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.88890	0.3345	10	0.87932	D	0	.	19.3345	0.94309	0.0:1.0:0.0:0.0	.	519	Q75V66	ANO5_HUMAN	L	519	ENSP00000315371:S519L	ENSP00000315371:S519L	S	+	2	0	ANO5	22237789	1.000000	0.71417	0.958000	0.39756	0.967000	0.64934	7.807000	0.86032	2.563000	0.86464	0.591000	0.81541	TCA		0.378	ANO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387615.1	NM_213599		20	61	0	0	0	0	20	61				
ANO5	203859	broad.mit.edu	37	11	22301235	22301235	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr11:22301235G>T	ENST00000324559.8	+	22	2983	c.2666G>T	c.(2665-2667)gGa>gTa	p.G889V		NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN	anoctamin 5	889					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	intracellular calcium activated chloride channel activity (GO:0005229)			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GAGAACTTGGGAATTAATTCT	0.363																																						uc001mqi.2		NA																	0				central_nervous_system(3)|ovary(1)	4						c.(2665-2667)GGA>GTA		anoctamin 5 isoform a							64.0	68.0	67.0					11																	22301235		2203	4299	6502	SO:0001583	missense	203859					chloride channel complex|endoplasmic reticulum membrane	chloride channel activity	g.chr11:22301235G>T	AL833271	CCDS31444.1	11p15.1	2014-09-17	2008-08-28	2008-08-28	ENSG00000171714	ENSG00000171714		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	27337	protein-coding gene	gene with protein product		608662	"""transmembrane protein 16E"", ""limb girdle muscular dystrophy 2L (autosomal recessive)"""	TMEM16E, LGMD2L		15067359, 20096397, 24692353	Standard	NM_213599		Approved	GDD1	uc001mqi.2	Q75V66	OTTHUMG00000166051	ENST00000324559.8:c.2666G>T	11.37:g.22301235G>T	ENSP00000315371:p.Gly889Val					ANO5_uc001mqj.2_Missense_Mutation_p.G888V	p.G889V	NM_213599	NP_998764	Q75V66	ANO5_HUMAN			22	2983	+			889			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000324559.8	37	c.2666G>T	CCDS31444.1	.	.	.	.	.	.	.	.	.	.	G	14.57	2.574727	0.45902	.	.	ENSG00000171714	ENST00000324559	T	0.70986	-0.53	5.53	-2.78	0.05859	.	0.444847	0.29321	N	0.012482	T	0.38506	0.1043	N	0.08118	0	0.09310	N	1	B	0.26935	0.164	B	0.26969	0.075	T	0.16364	-1.0405	10	0.36615	T	0.2	.	1.1389	0.01761	0.3148:0.2539:0.3014:0.1299	.	889	Q75V66	ANO5_HUMAN	V	889	ENSP00000315371:G889V	ENSP00000315371:G889V	G	+	2	0	ANO5	22257811	0.004000	0.15560	0.000000	0.03702	0.562000	0.35680	0.203000	0.17315	-0.758000	0.04690	0.655000	0.94253	GGA		0.363	ANO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387615.1	NM_213599		7	75	1	0	0.00198382	0.00203006	7	75				
LRRC4C	57689	broad.mit.edu	37	11	40137420	40137420	+	Missense_Mutation	SNP	A	A	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr11:40137420A>T	ENST00000278198.2	-	2	2386	c.423T>A	c.(421-423)aaT>aaA	p.N141K	LRRC4C_ENST00000528697.1_Missense_Mutation_p.N141K|LRRC4C_ENST00000530763.1_Missense_Mutation_p.N141K|LRRC4C_ENST00000527150.1_Missense_Mutation_p.N141K			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	141					regulation of axonogenesis (GO:0050770)	cell junction (GO:0030054)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|postsynaptic membrane (GO:0045211)				NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				CAAAAGCTCCATTCGGGATGG	0.428																																						uc001mxa.1		NA																	0				ovary(4)|skin(3)|central_nervous_system(1)	8						c.(421-423)AAT>AAA		netrin-G1 ligand precursor							69.0	71.0	70.0					11																	40137420		2203	4300	6503	SO:0001583	missense	57689				regulation of axonogenesis	integral to membrane	protein binding	g.chr11:40137420A>T	AB046800	CCDS31464.1	11p12	2013-01-14				ENSG00000148948		"""Immunoglobulin superfamily / I-set domain containing"""	29317	protein-coding gene	gene with protein product		608817				14595443	Standard	NM_020929		Approved	KIAA1580, NGL-1	uc031pzu.1	Q9HCJ2		ENST00000278198.2:c.423T>A	11.37:g.40137420A>T	ENSP00000278198:p.Asn141Lys					LRRC4C_uc001mxc.1_Missense_Mutation_p.N137K|LRRC4C_uc001mxd.1_Missense_Mutation_p.N137K|LRRC4C_uc001mxb.1_Missense_Mutation_p.N137K	p.N141K	NM_020929	NP_065980	Q9HCJ2	LRC4C_HUMAN			2	2387	-		all_lung(304;0.0575)|Lung NSC(402;0.138)	141			LRR 3.		A8K0T1|Q7L0N3	Missense_Mutation	SNP	ENST00000278198.2	37	c.423T>A	CCDS31464.1	.	.	.	.	.	.	.	.	.	.	A	12.44	1.939646	0.34189	.	.	ENSG00000148948	ENST00000278198;ENST00000527150;ENST00000528697;ENST00000530763	D;D;D;D	0.91180	-2.8;-2.8;-2.8;-2.8	5.82	5.82	0.92795	.	0.046372	0.85682	D	0.000000	D	0.84061	0.5389	N	0.22421	0.69	0.80722	D	1	P	0.43857	0.819	B	0.41412	0.356	T	0.82436	-0.0458	10	0.12103	T	0.63	.	15.3632	0.74499	1.0:0.0:0.0:0.0	.	141	Q9HCJ2	LRC4C_HUMAN	K	141	ENSP00000278198:N141K;ENSP00000436976:N141K;ENSP00000437132:N141K;ENSP00000434761:N141K	ENSP00000278198:N141K	N	-	3	2	LRRC4C	40093996	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.707000	0.54838	2.222000	0.72286	0.528000	0.53228	AAT		0.428	LRRC4C-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389499.1	NM_020929		20	62	0	0	0	0	20	62				
PHF21A	51317	broad.mit.edu	37	11	45975109	45975109	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr11:45975109G>T	ENST00000418153.2	-	10	1260	c.1061C>A	c.(1060-1062)gCa>gAa	p.A354E	PHF21A_ENST00000527753.1_5'UTR|PHF21A_ENST00000323180.6_Missense_Mutation_p.A355E|PHF21A_ENST00000257821.4_Missense_Mutation_p.A355E			Q96BD5	PF21A_HUMAN	PHD finger protein 21A	354					blood coagulation (GO:0007596)|chromatin modification (GO:0016568)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription, DNA-templated (GO:0006355)|suckling behavior (GO:0001967)|transcription, DNA-templated (GO:0006351)	histone deacetylase complex (GO:0000118)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(10)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	29						TGGTTTGGGTGCAGCAGGTGG	0.448																																						uc001ncc.3		NA																	0				central_nervous_system(1)|skin(1)	2						c.(1060-1062)GCA>GAA		BRAF35/HDAC2 complex isoform a							174.0	150.0	158.0					11																	45975109		2202	4299	6501	SO:0001583	missense	51317				blood coagulation|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|transcription, DNA-dependent	histone deacetylase complex	DNA binding|zinc ion binding	g.chr11:45975109G>T	AL359593	CCDS31474.1, CCDS44578.1	11p11.2	2013-01-28			ENSG00000135365	ENSG00000135365		"""Zinc fingers, PHD-type"""	24156	protein-coding gene	gene with protein product		608325				11214970, 12032298	Standard	NM_001101802		Approved	BHC80, KIAA1696, BM-006	uc001ncc.4	Q96BD5	OTTHUMG00000167038	ENST00000418153.2:c.1061C>A	11.37:g.45975109G>T	ENSP00000398824:p.Ala354Glu					PHF21A_uc001ncb.3_Missense_Mutation_p.A355E|PHF21A_uc009ykx.2_Missense_Mutation_p.A355E|PHF21A_uc001nce.2_Missense_Mutation_p.A355E|PHF21A_uc001nca.1_Missense_Mutation_p.A90E	p.A354E	NM_001101802	NP_001095272	Q96BD5	PF21A_HUMAN			10	1685	-			354					D3DQP5|Q6AWA2|Q9C0G7|Q9H8V9|Q9HAK6|Q9NZE9	Missense_Mutation	SNP	ENST00000418153.2	37	c.1061C>A	CCDS44578.1	.	.	.	.	.	.	.	.	.	.	G	14.50	2.553567	0.45487	.	.	ENSG00000135365	ENST00000257821;ENST00000323180;ENST00000418153	T;T;T	0.27256	1.68;1.68;1.68	5.93	5.93	0.95920	.	0.157689	0.56097	D	0.000023	T	0.21921	0.0528	L	0.41710	1.295	0.45056	D	0.998078	B;P;P	0.37015	0.215;0.578;0.578	B;B;B	0.35510	0.034;0.204;0.204	T	0.02852	-1.1102	10	0.07813	T	0.8	-8.1067	18.5301	0.90989	0.0:0.0:1.0:0.0	.	354;355;355	Q96BD5;Q96BD5-2;Q96BD5-3	PF21A_HUMAN;.;.	E	355;355;354	ENSP00000257821:A355E;ENSP00000323152:A355E;ENSP00000398824:A354E	ENSP00000257821:A355E	A	-	2	0	PHF21A	45931685	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.295000	0.72744	2.814000	0.96858	0.591000	0.81541	GCA		0.448	PHF21A-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000392583.1	NM_016621		6	51	1	0	1.13e-05	1.17e-05	6	51				
LRP4	4038	broad.mit.edu	37	11	46897369	46897369	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr11:46897369C>T	ENST00000378623.1	-	26	3927	c.3685G>A	c.(3685-3687)Gat>Aat	p.D1229N	LRP4-AS1_ENST00000502049.2_RNA|LRP4-AS1_ENST00000531719.1_RNA	NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	1229					dendrite morphogenesis (GO:0048813)|dorsal/ventral pattern formation (GO:0009953)|embryonic digit morphogenesis (GO:0042733)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|limb development (GO:0060173)|negative regulation of axonogenesis (GO:0050771)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of ossification (GO:0030279)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of presynaptic membrane organization (GO:1901631)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|proximal/distal pattern formation (GO:0009954)|regulation of protein phosphorylation (GO:0001932)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|synapse organization (GO:0050808)|synaptic growth at neuromuscular junction (GO:0051124)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|synaptic membrane (GO:0097060)	calcium ion binding (GO:0005509)|receptor tyrosine kinase binding (GO:0030971)|scaffold protein binding (GO:0097110)			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		GTGTGGGCATCGGCCCATAGC	0.597																																						uc001ndn.3		NA																	0				skin(2)|upper_aerodigestive_tract(1)|ovary(1)	4						c.(3685-3687)GAT>AAT		low density lipoprotein receptor-related protein							106.0	80.0	89.0					11																	46897369		2201	4299	6500	SO:0001583	missense	4038				endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity	g.chr11:46897369C>T	AB011540	CCDS31478.1	11p11.2	2013-05-29			ENSG00000134569	ENSG00000134569		"""Low density lipoprotein receptors"""	6696	protein-coding gene	gene with protein product		604270				9693030	Standard	NM_002334		Approved	MEGF7, CLSS, LRP-4, SOST2	uc001ndn.4	O75096	OTTHUMG00000166700	ENST00000378623.1:c.3685G>A	11.37:g.46897369C>T	ENSP00000367888:p.Asp1229Asn						p.D1229N	NM_002334	NP_002325	O75096	LRP4_HUMAN		Lung(87;0.159)	26	3831	-			1229			Extracellular (Potential).|LDL-receptor class B 14.		B2RN39|Q4AC85|Q5KTZ5	Missense_Mutation	SNP	ENST00000378623.1	37	c.3685G>A	CCDS31478.1	.	.	.	.	.	.	.	.	.	.	C	29.4	5.003552	0.93287	.	.	ENSG00000134569	ENST00000378623	D	0.93307	-3.2	5.71	5.71	0.89125	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	D	0.97393	0.9147	M	0.89163	3.01	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.97704	1.0186	10	0.87932	D	0	.	19.8574	0.96764	0.0:1.0:0.0:0.0	.	1229	O75096	LRP4_HUMAN	N	1229	ENSP00000367888:D1229N	ENSP00000367888:D1229N	D	-	1	0	LRP4	46853945	1.000000	0.71417	1.000000	0.80357	0.903000	0.53119	7.662000	0.83803	2.704000	0.92352	0.555000	0.69702	GAT		0.597	LRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391133.1	NM_002334		8	62	0	0	0	0	8	62				
OR5AP2	338675	broad.mit.edu	37	11	56409589	56409589	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr11:56409589G>T	ENST00000302981.1	-	1	326	c.327C>A	c.(325-327)ttC>ttA	p.F109L	OR5AP2_ENST00000544374.1_Missense_Mutation_p.F110L	NM_001002925.1	NP_001002925.1	Q8NGF4	O5AP2_HUMAN	olfactory receptor, family 5, subfamily AP, member 2	109						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	29						AGGAGCCAAAGAAGTAGAACT	0.512																																						uc001njb.1		NA																	0				ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4						c.(325-327)TTC>TTA		olfactory receptor, family 5, subfamily AP,							59.0	64.0	62.0					11																	56409589		2201	4296	6497	SO:0001583	missense	338675				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56409589G>T	AB065854	CCDS31534.1	11q11	2012-08-09			ENSG00000172464	ENSG00000172464		"""GPCR / Class A : Olfactory receptors"""	15258	protein-coding gene	gene with protein product							Standard	NM_001002925		Approved		uc001njb.1	Q8NGF4	OTTHUMG00000166865	ENST00000302981.1:c.327C>A	11.37:g.56409589G>T	ENSP00000303111:p.Phe109Leu						p.F109L	NM_001002925	NP_001002925	Q8NGF4	O5AP2_HUMAN			1	327	-			109			Helical; Name=3; (Potential).		B2RNM8	Missense_Mutation	SNP	ENST00000302981.1	37	c.327C>A	CCDS31534.1	.	.	.	.	.	.	.	.	.	.	G	11.11	1.541708	0.27563	.	.	ENSG00000172464	ENST00000544374;ENST00000302981	T;T	0.00495	6.99;6.99	5.06	2.14	0.27477	GPCR, rhodopsin-like superfamily (1);	0.000000	0.51477	D	0.000089	T	0.00412	0.0013	L	0.49513	1.565	0.38828	D	0.955772	B	0.26483	0.15	B	0.22386	0.039	T	0.66077	-0.6013	10	0.35671	T	0.21	.	4.372	0.11253	0.331:0.0:0.522:0.147	.	109	Q8NGF4	O5AP2_HUMAN	L	110;109	ENSP00000442701:F110L;ENSP00000303111:F109L	ENSP00000303111:F109L	F	-	3	2	OR5AP2	56166165	0.001000	0.12720	0.998000	0.56505	0.993000	0.82548	0.080000	0.14802	0.293000	0.22520	-0.154000	0.13518	TTC		0.512	OR5AP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000391613.1	NM_001002925		17	41	1	0	0.006122	0.00624123	17	41				
RTN4RL2	349667	broad.mit.edu	37	11	57235099	57235099	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr11:57235099C>G	ENST00000533205.1	+	2	58	c.49C>G	c.(49-51)Ctc>Gtc	p.L17V	RTN4RL2_ENST00000335099.3_Missense_Mutation_p.L17V|RTN4RL2_ENST00000395120.2_Missense_Mutation_p.L17V					reticulon 4 receptor-like 2											NS(1)|endometrium(1)|large_intestine(2)|lung(2)	6						CTCGGCCTGCCTCCTGCTGAT	0.677																																						uc010rjt.1		NA																	0					0						c.(49-51)CTC>GTC		reticulon 4 receptor-like 2 precursor							68.0	71.0	70.0					11																	57235099		2201	4296	6497	SO:0001583	missense	349667				axon regeneration	anchored to plasma membrane	receptor activity	g.chr11:57235099C>G	BK001302	CCDS7957.1	11q12.1	2008-02-05			ENSG00000186907	ENSG00000186907			23053	protein-coding gene	gene with protein product		610462					Standard	NM_178570		Approved	NgR2, NGRH1	uc010rjt.2	Q86UN3	OTTHUMG00000167028	ENST00000533205.1:c.49C>G	11.37:g.57235099C>G	ENSP00000435606:p.Leu17Val						p.L17V	NM_178570	NP_848665	Q86UN3	R4RL2_HUMAN			2	49	+			17						Missense_Mutation	SNP	ENST00000533205.1	37	c.49C>G		.	.	.	.	.	.	.	.	.	.	C	15.37	2.813008	0.50527	.	.	ENSG00000186907	ENST00000335099;ENST00000533205;ENST00000395120	T;T;T	0.69306	-0.06;-0.39;-0.36	4.96	4.04	0.47022	.	0.212377	0.22969	N	0.053457	T	0.41789	0.1174	N	0.01800	-0.715	0.25152	N	0.990419	B	0.02656	0.0	B	0.04013	0.001	T	0.36261	-0.9755	10	0.44086	T	0.13	.	15.2704	0.73696	0.0:0.8587:0.1413:0.0	.	17	Q86UN3	R4RL2_HUMAN	V	17	ENSP00000335397:L17V;ENSP00000435606:L17V;ENSP00000378552:L17V	ENSP00000335397:L17V	L	+	1	0	RTN4RL2	56991675	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	2.078000	0.41567	1.210000	0.43336	0.561000	0.74099	CTC		0.677	RTN4RL2-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000392538.1	NM_178570		32	105	0	0	0	0	32	105				
OR5A1	219982	broad.mit.edu	37	11	59211187	59211187	+	Silent	SNP	C	C	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr11:59211187C>T	ENST00000302030.2	+	1	571	c.546C>T	c.(544-546)tgC>tgT	p.C182C		NM_001004728.1	NP_001004728.1	Q8NGJ0	OR5A1_HUMAN	olfactory receptor, family 5, subfamily A, member 1	182						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	28						ACTTCTTCTGCGACCTCCCAC	0.537																																						uc001nnx.1		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(544-546)TGC>TGT		olfactory receptor, family 5, subfamily A,							240.0	236.0	237.0					11																	59211187		2201	4295	6496	SO:0001819	synonymous_variant	219982				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:59211187C>T	AB065804	CCDS31561.1	11q12.1	2012-08-09			ENSG00000172320	ENSG00000172320		"""GPCR / Class A : Olfactory receptors"""	8319	protein-coding gene	gene with protein product				OR5A1P			Standard	NM_001004728		Approved	OST181	uc001nnx.1	Q8NGJ0	OTTHUMG00000167339	ENST00000302030.2:c.546C>T	11.37:g.59211187C>T							p.C182C	NM_001004728	NP_001004728	Q8NGJ0	OR5A1_HUMAN			1	546	+			182			Extracellular (Potential).		B9EH58|Q6IFF2|Q96RB1	Silent	SNP	ENST00000302030.2	37	c.546C>T	CCDS31561.1																																																																																				0.537	OR5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394233.1	NM_001004728		73	251	0	0	0	0	73	251				
AHNAK	79026	broad.mit.edu	37	11	62286867	62286867	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr11:62286867C>G	ENST00000378024.4	-	5	15296	c.15022G>C	c.(15022-15024)Gag>Cag	p.E5008Q	AHNAK_ENST00000525875.1_5'Flank|AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	5008					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TCAGGAGTCTCAAGGTTCAGC	0.423																																						uc001ntl.2		NA																	0				ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1)	19						c.(15022-15024)GAG>CAG		AHNAK nucleoprotein isoform 1							117.0	122.0	120.0					11																	62286867		2202	4299	6501	SO:0001583	missense	79026				nervous system development	nucleus	protein binding	g.chr11:62286867C>G	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.15022G>C	11.37:g.62286867C>G	ENSP00000367263:p.Glu5008Gln					AHNAK_uc001ntk.1_Intron	p.E5008Q	NM_001620	NP_001611	Q09666	AHNK_HUMAN			5	15322	-		Melanoma(852;0.155)	5008					A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	c.15022G>C	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	C	15.93	2.978285	0.53720	.	.	ENSG00000124942	ENST00000378024	T	0.01076	5.37	4.48	4.48	0.54585	.	0.576479	0.14294	N	0.328734	T	0.03827	0.0108	L	0.37697	1.125	0.26411	N	0.976262	D	0.65815	0.995	D	0.81914	0.995	T	0.56792	-0.7920	10	0.16420	T	0.52	.	17.1273	0.86717	0.0:1.0:0.0:0.0	.	5008	Q09666	AHNK_HUMAN	Q	5008	ENSP00000367263:E5008Q	ENSP00000367263:E5008Q	E	-	1	0	AHNAK	62043443	0.980000	0.34600	0.078000	0.20375	0.995000	0.86356	2.667000	0.46808	2.221000	0.72209	0.549000	0.68633	GAG		0.423	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		58	147	0	0	0	0	58	147				
MACROD1	28992	broad.mit.edu	37	11	63767135	63767135	+	Silent	SNP	C	C	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr11:63767135C>T	ENST00000255681.6	-	6	831	c.765G>A	c.(763-765)ctG>ctA	p.L255L	OTUB1_ENST00000535715.1_Intron	NM_014067.3	NP_054786.2	Q9BQ69	MACD1_HUMAN	MACRO domain containing 1	255	Macro. {ECO:0000255|PROSITE- ProRule:PRU00490}.				cellular response to DNA damage stimulus (GO:0006974)|protein de-ADP-ribosylation (GO:0051725)|purine nucleoside metabolic process (GO:0042278)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	deacetylase activity (GO:0019213)|hydrolase activity, acting on glycosyl bonds (GO:0016798)			breast(1)|large_intestine(3)|lung(6)|skin(1)	11						GCCGGTGCTCCAGCAGCAGGT	0.716																																						uc001nyh.2		NA																	0					0						c.(763-765)CTG>CTA		MACRO domain containing 1							9.0	13.0	11.0					11																	63767135		2156	4249	6405	SO:0001819	synonymous_variant	28992							g.chr11:63767135C>T	AF202922	CCDS8056.1	11q13.1	2007-07-24	2007-06-11		ENSG00000133315	ENSG00000133315			29598	protein-coding gene	gene with protein product		610400				15691879	Standard	NM_014067		Approved	LRP16	uc001nyh.3	Q9BQ69	OTTHUMG00000167843	ENST00000255681.6:c.765G>A	11.37:g.63767135C>T							p.L255L	NM_014067	NP_054786	Q9BQ69	MACD1_HUMAN			6	884	-			255			Macro.		Q9UH96	Silent	SNP	ENST00000255681.6	37	c.765G>A	CCDS8056.1																																																																																				0.716	MACROD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396570.1	NM_014067		4	22	0	0	0	0	4	22				
FERMT3	83706	broad.mit.edu	37	11	63974990	63974990	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr11:63974990C>G	ENST00000279227.5	+	2	249	c.154C>G	c.(154-156)Cag>Gag	p.Q52E	FERMT3_ENST00000345728.5_Missense_Mutation_p.Q52E	NM_178443.2	NP_848537.1	Q86UX7	URP2_HUMAN	fermitin family member 3	52					integrin activation (GO:0033622)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|platelet aggregation (GO:0070527)|regulation of cell-cell adhesion mediated by integrin (GO:0033632)|substrate adhesion-dependent cell spreading (GO:0034446)	cell junction (GO:0030054)|cell projection (GO:0042995)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|podosome (GO:0002102)	integrin binding (GO:0005178)			breast(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	18						GATTGTGGAGCAGATCAGTGA	0.667																																						uc001nyl.2		NA																	0				ovary(1)	1						c.(154-156)CAG>GAG		fermitin family homolog 3 long form							38.0	42.0	40.0					11																	63974990		2201	4297	6498	SO:0001583	missense	83706				integrin activation|leukocyte cell-cell adhesion|platelet aggregation|regulation of cell-cell adhesion mediated by integrin	cell junction|cell projection|podosome	integrin binding	g.chr11:63974990C>G	L25343	CCDS8059.1, CCDS8060.1	11q13.1	2014-09-17	2010-06-24		ENSG00000149781	ENSG00000149781		"""Fermitins"", ""Pleckstrin homology (PH) domain containing"""	23151	protein-coding gene	gene with protein product	"""kindlin-3"""	607901	"""fermitin family homolog 3 (Drosophila)"""				Standard	NM_178443		Approved	URP2, KIND3, MIG2B, MGC10966, MIG-2, UNC112C	uc001nym.2	Q86UX7	OTTHUMG00000167790	ENST00000279227.5:c.154C>G	11.37:g.63974990C>G	ENSP00000279227:p.Gln52Glu					FERMT3_uc001nym.2_Missense_Mutation_p.Q52E	p.Q52E	NM_178443	NP_848537	Q86UX7	URP2_HUMAN			2	303	+			52					Q8IUA1|Q8N207|Q9BT48	Missense_Mutation	SNP	ENST00000279227.5	37	c.154C>G	CCDS8060.1	.	.	.	.	.	.	.	.	.	.	C	2.533	-0.308082	0.05458	.	.	ENSG00000149781	ENST00000544997;ENST00000345728;ENST00000279227	T;T;T	0.56776	1.59;0.44;0.44	4.48	1.53	0.23141	.	0.348186	0.28252	N	0.016029	T	0.35307	0.0927	L	0.46157	1.445	0.33512	D	0.591278	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.28902	-1.0029	10	0.09843	T	0.71	-11.7505	4.5115	0.11914	0.2526:0.3361:0.4113:0.0	.	52;52	Q86UX7-2;Q86UX7	.;URP2_HUMAN	E	52	ENSP00000445778:Q52E;ENSP00000339950:Q52E;ENSP00000279227:Q52E	ENSP00000279227:Q52E	Q	+	1	0	FERMT3	63731566	0.991000	0.36638	0.999000	0.59377	0.290000	0.27261	0.466000	0.22019	0.247000	0.21414	-1.109000	0.02080	CAG		0.667	FERMT3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000396297.1	NM_031471		11	61	0	0	0	0	11	61				
BAD	572	broad.mit.edu	37	11	64037697	64037697	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr11:64037697G>A	ENST00000394532.3	-	3	761	c.491C>T	c.(490-492)tCc>tTc	p.S164F	BAD_ENST00000309032.3_Missense_Mutation_p.S164F|BAD_ENST00000544785.1_Silent_p.L100L	NM_004322.3	NP_004313.1	Q92934	BAD_HUMAN	BCL2-associated agonist of cell death	164					activation of cysteine-type endopeptidase activity (GO:0097202)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|ADP metabolic process (GO:0046031)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|ATP metabolic process (GO:0046034)|cellular process regulating host cell cycle in response to virus (GO:0060154)|cellular response to chromate (GO:0071247)|cellular response to hypoxia (GO:0071456)|cellular response to lipid (GO:0071396)|cellular response to mechanical stimulus (GO:0071260)|cellular response to nicotine (GO:0071316)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway (GO:0097191)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose catabolic process (GO:0006007)|glucose homeostasis (GO:0042593)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|pore complex assembly (GO:0046931)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic process by virus (GO:0060139)|positive regulation of autophagy (GO:0010508)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of glucokinase activity (GO:0033133)|positive regulation of insulin secretion (GO:0032024)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane potential (GO:0010918)|positive regulation of neuron death (GO:1901216)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of proteolysis (GO:0045862)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of T cell differentiation (GO:0045582)|positive regulation of type B pancreatic cell development (GO:2000078)|regulation of mitochondrial membrane permeability (GO:0046902)|release of cytochrome c from mitochondria (GO:0001836)|response to amino acid (GO:0043200)|response to calcium ion (GO:0051592)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucocorticoid (GO:0051384)|response to glucose (GO:0009749)|response to hydrogen peroxide (GO:0042542)|response to oleic acid (GO:0034201)|response to progesterone (GO:0032570)|response to testosterone (GO:0033574)|suppression by virus of host apoptotic process (GO:0019050)|type B pancreatic cell proliferation (GO:0044342)	cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|lipid binding (GO:0008289)|phospholipid binding (GO:0005543)|protein kinase binding (GO:0019901)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(1)	4						GGAGGGGGCGGAGCTTCCCCT	0.637																																						uc001nzd.2		NA																	0				central_nervous_system(1)	1						c.(490-492)TCC>TTC		BCL2-associated agonist of cell death							79.0	70.0	73.0					11																	64037697		2201	4297	6498	SO:0001583	missense	572				activation of pro-apoptotic gene products|ADP metabolic process|ATP metabolic process|cellular response to hypoxia|cellular response to mechanical stimulus|cellular response to nicotine|glucose homeostasis|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|pore complex assembly|positive regulation of epithelial cell proliferation|positive regulation of glucokinase activity|positive regulation of insulin secretion|positive regulation of mitochondrial membrane potential|positive regulation of type B pancreatic cell development|regulation of mitochondrial membrane permeability|type B pancreatic cell proliferation	cytosol|mitochondrial outer membrane	caspase activator activity|phospholipid binding|protein kinase binding	g.chr11:64037697G>A	AF021792	CCDS8065.1	11q13.1	2014-03-07	2008-08-19		ENSG00000002330	ENSG00000002330			936	protein-coding gene	gene with protein product		603167				8929532	Standard	NM_004322		Approved	BCL2L8, BBC2	uc001nzd.3	Q92934	OTTHUMG00000134302	ENST00000394532.3:c.491C>T	11.37:g.64037697G>A	ENSP00000378040:p.Ser164Phe					BAD_uc001nzc.2_Missense_Mutation_p.S164F|GPR137_uc009ypj.1_5'UTR	p.S164F	NM_032989	NP_116784	Q92934	BAD_HUMAN			4	573	-			164					O14803|Q6FH21	Missense_Mutation	SNP	ENST00000394532.3	37	c.491C>T	CCDS8065.1	.	.	.	.	.	.	.	.	.	.	G	17.03	3.285392	0.59867	.	.	ENSG00000002330	ENST00000394532;ENST00000309032	T;T	0.59083	0.29;0.29	5.57	4.66	0.58398	.	0.218715	0.37761	N	0.001946	T	0.53546	0.1803	L	0.57536	1.79	0.80722	D	1	B	0.12630	0.006	B	0.19391	0.025	T	0.54944	-0.8217	10	0.87932	D	0	-5.512	10.4359	0.44435	0.0906:0.0:0.9094:0.0	.	164	Q92934	BAD_HUMAN	F	164	ENSP00000378040:S164F;ENSP00000309103:S164F	ENSP00000309103:S164F	S	-	2	0	BAD	63794273	1.000000	0.71417	1.000000	0.80357	0.359000	0.29487	3.271000	0.51608	1.362000	0.46000	-0.258000	0.10820	TCC		0.637	BAD-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259180.2	NM_032989		11	42	0	0	0	0	11	42				
GPR137	56834	broad.mit.edu	37	11	64054131	64054131	+	Silent	SNP	C	C	G			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr11:64054131C>G	ENST00000313074.3	+	1	240	c.135C>G	c.(133-135)ctC>ctG	p.L45L	BAD_ENST00000309032.3_5'Flank|GPR137_ENST00000438980.2_Silent_p.L45L|BAD_ENST00000544785.1_5'Flank|BAD_ENST00000394531.3_5'Flank|GPR137_ENST00000377702.4_Silent_p.L45L|BAD_ENST00000394532.3_5'Flank|GPR137_ENST00000539851.1_Silent_p.L45L|GPR137_ENST00000411458.1_Silent_p.L103L	NM_020155.3	NP_064540.3	Q96N19	G137A_HUMAN	G protein-coupled receptor 137	45						integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(3)|kidney(1)|lung(4)|skin(1)	10						ATGCCCAGCTCTGGCTGGTGC	0.627																																						uc001nzg.1		NA																	0				central_nervous_system(1)	1						c.(133-135)CTC>CTG		G protein-coupled receptor 137							129.0	121.0	124.0					11																	64054131		2201	4297	6498	SO:0001819	synonymous_variant	56834					integral to membrane		g.chr11:64054131C>G	AJ250392	CCDS8066.1, CCDS53655.1, CCDS53656.1, CCDS53657.1, CCDS53658.1	11q13.1	2014-02-12	2006-01-26		ENSG00000173264	ENSG00000173264		"""GPCR / Unclassified : 7TM orphan receptors"""	24300	protein-coding gene	gene with protein product						10873569, 12732197	Standard	NM_001170726		Approved	C11orf4, GPR137A, TM7SF1L1	uc010rni.2	Q96N19	OTTHUMG00000167817	ENST00000313074.3:c.135C>G	11.37:g.64054131C>G						BAD_uc001nzd.2_5'Flank|BAD_uc001nzc.2_5'Flank|GPR137_uc009ypj.1_Silent_p.L51L|BAD_uc009ypk.2_5'Flank|GPR137_uc010rni.1_Silent_p.L103L|GPR137_uc001nze.1_Silent_p.L45L|GPR137_uc001nzf.2_Silent_p.L45L|GPR137_uc001nzh.1_Silent_p.L45L|GPR137_uc001nzi.2_Silent_p.L45L|GPR137_uc010rnj.1_Silent_p.L45L	p.L45L	NM_020155	NP_064540	Q96N19	G137A_HUMAN			2	443	+			45			Helical; (Potential).		B4DTG7|B7Z7M1|Q4G0Y9|Q8N4K6	Silent	SNP	ENST00000313074.3	37	c.135C>G	CCDS8066.1																																																																																				0.627	GPR137-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000396412.1	NM_020155		44	138	0	0	0	0	44	138				
ESRRA	2101	broad.mit.edu	37	11	64082296	64082296	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr11:64082296G>A	ENST00000405666.1	+	5	889	c.655G>A	c.(655-657)Gat>Aat	p.D219N	ESRRA_ENST00000000442.6_Missense_Mutation_p.D219N|ESRRA_ENST00000406310.1_Missense_Mutation_p.D218N	NM_001282450.1	NP_001269379.1	P11474	ERR1_HUMAN	estrogen-related receptor alpha	219	Ligand binding domain.				cartilage development (GO:0051216)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell proliferation (GO:0042127)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein domain specific binding (GO:0019904)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(4)|lung(8)	14						CGCAGGCCCTGATGGGCACCT	0.587																																						uc001nzq.1		NA																	0					0						c.(655-657)GAT>AAT		estrogen-related receptor alpha							58.0	60.0	59.0					11																	64082296		2051	4215	6266	SO:0001583	missense	2101				positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein domain specific binding|sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding	g.chr11:64082296G>A	X51416, L38487	CCDS41667.1, CCDS60830.1	11q12	2013-01-16			ENSG00000173153	ENSG00000173153		"""Nuclear hormone receptors"""	3471	protein-coding gene	gene with protein product		601998		ESRL1		3267207	Standard	NM_004451		Approved	ERR1, ERRalpha, NR3B1, ERRa	uc001nzq.1	P11474	OTTHUMG00000150641	ENST00000405666.1:c.655G>A	11.37:g.64082296G>A	ENSP00000384851:p.Asp219Asn					ESRRA_uc001nzr.1_Missense_Mutation_p.D218N|ESRRA_uc001nzs.1_Missense_Mutation_p.D219N|ESRRA_uc009ypn.1_Intron	p.D219N	NM_004451	NP_004442	P11474	ERR1_HUMAN			5	832	+			219			Ligand binding domain.		Q14514	Missense_Mutation	SNP	ENST00000405666.1	37	c.655G>A	CCDS41667.1	.	.	.	.	.	.	.	.	.	.	G	15.61	2.883096	0.51908	.	.	ENSG00000173153	ENST00000406310;ENST00000000442;ENST00000539594;ENST00000405666	T;T;T;T	0.37584	1.19;1.19;1.19;1.19	3.99	3.99	0.46301	Nuclear hormone receptor, ligand-binding (2);	0.000000	0.85682	D	0.000000	T	0.43233	0.1238	M	0.67700	2.07	0.80722	D	1	P;P	0.48764	0.809;0.915	B;P	0.47705	0.353;0.555	T	0.36359	-0.9751	10	0.31617	T	0.26	.	13.9885	0.64350	0.0:0.0:1.0:0.0	.	218;219	P11474-2;P11474	.;ERR1_HUMAN	N	218;219;76;219	ENSP00000385971:D218N;ENSP00000000442:D219N;ENSP00000439896:D76N;ENSP00000384851:D219N	ENSP00000000442:D219N	D	+	1	0	ESRRA	63838872	1.000000	0.71417	0.991000	0.47740	0.890000	0.51754	9.482000	0.97935	2.232000	0.73038	0.462000	0.41574	GAT		0.587	ESRRA-003	KNOWN	alternative_5_UTR|NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319304.1	NM_004451		12	59	0	0	0	0	12	59				
RASGRP2	10235	broad.mit.edu	37	11	64510267	64510267	+	Splice_Site	SNP	G	G	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr11:64510267G>A	ENST00000354024.3	-	2	324	c.72C>T	c.(70-72)ttC>ttT	p.F24F	RASGRP2_ENST00000394432.3_Splice_Site_p.F24F|RASGRP2_ENST00000377494.1_Splice_Site_p.F24F|RASGRP2_ENST00000394429.1_Splice_Site_p.F24F|RASGRP2_ENST00000377487.1_Splice_Site_p.F24F|RASGRP2_ENST00000394428.1_Splice_Site_p.F24F|RASGRP2_ENST00000377497.3_Splice_Site_p.F24F|RASGRP2_ENST00000377486.3_Splice_Site_p.F24F|RASGRP2_ENST00000377489.1_Splice_Site_p.F24F|RASGRP2_ENST00000394430.1_Splice_Site_p.F24F	NM_153819.1	NP_722541.1	Q7LDG7	GRP2_HUMAN	RAS guanyl releasing protein 2 (calcium and DAG-regulated)	24	N-terminal Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00135}.				blood coagulation (GO:0007596)|cellular response to calcium ion (GO:0071277)|platelet activation (GO:0030168)|positive regulation of Rap GTPase activity (GO:0032854)|Ras protein signal transduction (GO:0007265)|regulation of cell growth (GO:0001558)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cytosol (GO:0005829)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|diacylglycerol binding (GO:0019992)|guanyl-nucleotide exchange factor activity (GO:0005085)|lipid binding (GO:0008289)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GCCACTCACCGAAGGCTTCGA	0.726																																						uc009ypu.2		NA																	0					0						c.(70-72)TTC>TTT		RAS guanyl releasing protein 2							33.0	29.0	30.0					11																	64510267		2199	4296	6495	SO:0001630	splice_region_variant	10235				platelet activation|Ras protein signal transduction|regulation of cell growth|regulation of small GTPase mediated signal transduction	cell junction|cytosol|ruffle membrane|synapse|synaptosome	calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity	g.chr11:64510267G>A	U78170	CCDS31598.1	11q13	2014-09-17			ENSG00000068831	ENSG00000068831		"""EF-hand domain containing"""	9879	protein-coding gene	gene with protein product		605577				9789079	Standard	NM_001098670		Approved	CALDAG-GEFI	uc009ypv.3	Q7LDG7	OTTHUMG00000045420	ENST00000354024.3:c.73+1C>T	11.37:g.64510267G>A						RASGRP2_uc001oat.2_5'Flank|RASGRP2_uc001oau.2_5'Flank|RASGRP2_uc009ypv.2_Silent_p.F24F|RASGRP2_uc009ypw.2_Silent_p.F24F|RASGRP2_uc001oaw.1_Missense_Mutation_p.S327L	p.F24F	NM_001098671	NP_001092141	Q7LDG7	GRP2_HUMAN			2	299	-			24			N-terminal Ras-GEF.		A6NDC7|O00538|Q9UL65	Silent	SNP	ENST00000354024.3	37	c.72C>T	CCDS31598.1																																																																																				0.726	RASGRP2-002	NOVEL	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000142062.1	NM_153819	Silent	4	18	0	0	0	0	4	18				
ATG2A	23130	broad.mit.edu	37	11	64673226	64673226	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr11:64673226G>A	ENST00000377264.3	-	23	3471	c.3359C>T	c.(3358-3360)tCt>tTt	p.S1120F	ATG2A_ENST00000421419.2_Missense_Mutation_p.S1120F	NM_015104.2	NP_055919.2	Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	1120					autophagic vacuole assembly (GO:0000045)|cellular response to nitrogen starvation (GO:0006995)|mitochondrion degradation (GO:0000422)|nucleophagy (GO:0044804)	extrinsic component of membrane (GO:0019898)|lipid particle (GO:0005811)|pre-autophagosomal structure (GO:0000407)				breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						ATAGTCCACAGAGCAGGAGAA	0.632																																						uc001obx.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(3358-3360)TCT>TTT		autophagy related 2A							90.0	84.0	86.0					11																	64673226		2201	4297	6498	SO:0001583	missense	23130						protein binding	g.chr11:64673226G>A		CCDS31602.1	11q13.1	2014-02-12	2012-06-06		ENSG00000110046	ENSG00000110046			29028	protein-coding gene	gene with protein product			"""ATG2 autophagy related 2 homolog A (S. cerevisiae)"""			21887408	Standard	NM_015104		Approved	KIAA0404	uc001obx.3	Q2TAZ0	OTTHUMG00000066831	ENST00000377264.3:c.3359C>T	11.37:g.64673226G>A	ENSP00000366475:p.Ser1120Phe					ATG2A_uc001obw.2_5'Flank	p.S1120F	NM_015104	NP_055919	Q2TAZ0	ATG2A_HUMAN			23	3474	-			1120					O43154|Q14DM2|Q6ZTV2|Q7Z6K8|Q8IVY5|Q8TAI8|Q96HH7	Missense_Mutation	SNP	ENST00000377264.3	37	c.3359C>T	CCDS31602.1	.	.	.	.	.	.	.	.	.	.	G	13.42	2.233185	0.39498	.	.	ENSG00000110046	ENST00000421419;ENST00000377264	T;T	0.07021	3.23;3.23	4.76	4.76	0.60689	.	0.068653	0.56097	D	0.000028	T	0.07548	0.0190	N	0.19112	0.55	0.34665	D	0.723093	B	0.17465	0.022	B	0.16722	0.016	T	0.13335	-1.0513	10	0.87932	D	0	.	15.6695	0.77262	0.0:0.0:1.0:0.0	.	1120	Q2TAZ0	ATG2A_HUMAN	F	1120	ENSP00000410522:S1120F;ENSP00000366475:S1120F	ENSP00000366475:S1120F	S	-	2	0	ATG2A	64429802	1.000000	0.71417	0.598000	0.28837	0.214000	0.24535	9.067000	0.93955	2.374000	0.81015	0.655000	0.94253	TCT		0.632	ATG2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000143224.1	NM_015104		7	84	0	0	0	0	7	84				
EFEMP2	30008	broad.mit.edu	37	11	65635368	65635368	+	Silent	SNP	G	G	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr11:65635368G>T	ENST00000307998.6	-	10	1364	c.1134C>A	c.(1132-1134)atC>atA	p.I378I	EFEMP2_ENST00000528176.1_Silent_p.I378I|EFEMP2_ENST00000532648.1_5'Flank	NM_016938.4	NP_058634.4	O95967	FBLN4_HUMAN	EGF containing fibulin-like extracellular matrix protein 2	378					blood coagulation (GO:0007596)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)|transmembrane signaling receptor activity (GO:0004888)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21				READ - Rectum adenocarcinoma(159;0.169)		TTCCAGCACGGATCTGAAAGG	0.547																																						uc001ofy.3		NA																	0				ovary(1)	1						c.(1132-1134)ATC>ATA		EGF-containing fibulin-like extracellular matrix							99.0	97.0	98.0					11																	65635368		2201	4296	6497	SO:0001819	synonymous_variant	30008				blood coagulation	basement membrane|membrane	calcium ion binding|extracellular matrix structural constituent|protein binding|transmembrane receptor activity	g.chr11:65635368G>T	AF109121	CCDS8116.1	11q13	2011-06-17	2011-01-25		ENSG00000172638	ENSG00000172638		"""Fibulins"""	3219	protein-coding gene	gene with protein product	"""fibulin 4"""	604633	"""EGF-containing fibulin-like extracellular matrix protein 2"""			10601734, 10982184	Standard	NR_037718		Approved	FBLN4, UPH1	uc001ofy.4	O95967	OTTHUMG00000166664	ENST00000307998.6:c.1134C>A	11.37:g.65635368G>T						EFEMP2_uc001ofz.2_RNA|EFEMP2_uc001oga.2_Silent_p.I378I	p.I378I	NM_016938	NP_058634	O95967	FBLN4_HUMAN		READ - Rectum adenocarcinoma(159;0.169)	10	1328	-			378					A8K7R4|B3KM31|B3KQT1|O75967	Silent	SNP	ENST00000307998.6	37	c.1134C>A	CCDS8116.1																																																																																				0.547	EFEMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391047.4	NM_016938		33	116	1	0	2.68e-12	2.85e-12	33	116				
SART1	9092	broad.mit.edu	37	11	65727397	65727397	+	5'Flank	SNP	G	G	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr11:65727397G>A	ENST00000312397.5	+	0	0				TSGA10IP_ENST00000532620.1_RNA|TSGA10IP_ENST00000608857.1_RNA	NM_005146.4	NP_005137.1	O43290	SNUT1_HUMAN	squamous cell carcinoma antigen recognized by T cells						cell cycle arrest (GO:0007050)|intrinsic apoptotic signaling pathway (GO:0097193)|mRNA splicing, via spliceosome (GO:0000398)|positive regulation of cytotoxic T cell differentiation (GO:0045585)|spliceosomal snRNP assembly (GO:0000387)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						CCTGGACCCGGAGTGCAGTCC	0.562																																						uc001ogk.1		NA																	0					0						c.(1657-1659)GAG>AAG		testis specific, 10 interacting protein							32.0	38.0	36.0					11																	65727397		1896	4104	6000	SO:0001631	upstream_gene_variant	254187							g.chr11:65727397G>A	AB006198	CCDS31611.1	11q13.1	2009-01-06	2006-12-07		ENSG00000175467	ENSG00000175467			10538	protein-coding gene	gene with protein product	"""small nuclear ribonucleoprotein 110kDa (U4/U6.U5)"""	605941	"""squamous cell carcinoma antigen recognised by T cells"""			9449708	Standard	NM_005146		Approved	Ara1, Snu66, SNRNP110	uc001ogl.3	O43290	OTTHUMG00000166771		11.37:g.65727397G>A	Exception_encountered					TSGA10IP_uc009yqw.1_RNA|TSGA10IP_uc009yqx.1_RNA|SART1_uc009yqy.1_5'Flank|SART1_uc010rot.1_5'Flank|SART1_uc001ogl.2_5'Flank	p.E553K	NM_152762	NP_689975	Q3SY00	T10IP_HUMAN			10	1689	+			553					A6NDN1|Q53GB5	Missense_Mutation	SNP	ENST00000312397.5	37	c.1657G>A	CCDS31611.1																																																																																				0.562	SART1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391409.1			5	21	0	0	0	0	5	21				
RBM4B	83759	broad.mit.edu	37	11	66436418	66436418	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr11:66436418G>C	ENST00000525754.1	-	2	1425	c.757C>G	c.(757-759)Caa>Gaa	p.Q253E	RBM4B_ENST00000310046.4_Missense_Mutation_p.Q253E|RBM4B_ENST00000529195.2_5'Flank|RP11-658F2.8_ENST00000550837.1_RNA|RP11-658F2.8_ENST00000548810.1_RNA|RBM4B_ENST00000531969.1_Intron			Q9BQ04	RBM4B_HUMAN	RNA binding motif protein 4B	253	Interaction with TNPO3. {ECO:0000250}.				circadian regulation of gene expression (GO:0032922)|circadian rhythm (GO:0007623)|entrainment of circadian clock by photoperiod (GO:0043153)|mRNA processing (GO:0006397)|positive regulation of gene expression (GO:0010628)|regulation of translation (GO:0006417)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|large_intestine(4)|lung(1)|urinary_tract(2)	10						CTTTGGACTTGAGGCAGATGG	0.542																																						uc001oja.2		NA																	0					0						c.(757-759)CAA>GAA		RNA binding motif protein 4B							88.0	85.0	86.0					11																	66436418		2200	4295	6495	SO:0001583	missense	83759				circadian regulation of gene expression|entrainment of circadian clock by photoperiod|mRNA processing|RNA splicing	nucleolus	nucleotide binding|RNA binding|zinc ion binding	g.chr11:66436418G>C	AK095158	CCDS8149.1, CCDS66144.1	11q13	2013-02-12	2006-01-25	2006-01-25				"""Zinc fingers, CCHC domain containing"", ""RNA binding motif (RRM) containing"""	28842	protein-coding gene	gene with protein product			"""RNA binding motif protein 30"""	RBM30		12477932	Standard	XR_247213		Approved	MGC10871, ZCCHC15, RBM4L, ZCRB3B, ZCCHC21B	uc001ojb.3	Q9BQ04		ENST00000525754.1:c.757C>G	11.37:g.66436418G>C	ENSP00000433071:p.Gln253Glu					RBM4B_uc001ojb.2_Missense_Mutation_p.Q253E	p.Q253E	NM_031492	NP_113680	Q9BQ04	RBM4B_HUMAN			2	1426	-			253			Interaction with TNPO3 (By similarity).		B3KT83	Missense_Mutation	SNP	ENST00000525754.1	37	c.757C>G	CCDS8149.1	.	.	.	.	.	.	.	.	.	.	G	16.51	3.144224	0.57044	.	.	ENSG00000173914	ENST00000525754;ENST00000310046	T;T	0.24538	1.85;1.85	5.92	5.92	0.95590	.	0.217362	0.48286	D	0.000191	T	0.24470	0.0593	L	0.51422	1.61	0.80722	D	1	P	0.43231	0.801	B	0.35353	0.201	T	0.03017	-1.1082	10	0.19590	T	0.45	.	19.1058	0.93294	0.0:0.0:1.0:0.0	.	253	Q9BQ04	RBM4B_HUMAN	E	253	ENSP00000433071:Q253E;ENSP00000310471:Q253E	ENSP00000310471:Q253E	Q	-	1	0	RBM4B	66192994	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.740000	0.62087	2.822000	0.97130	0.650000	0.86243	CAA		0.542	RBM4B-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393851.1	NM_031492		4	158	0	0	0	0	4	158				
RBM4B	83759	broad.mit.edu	37	11	66436492	66436492	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr11:66436492G>C	ENST00000525754.1	-	2	1351	c.683C>G	c.(682-684)tCt>tGt	p.S228C	RBM4B_ENST00000310046.4_Missense_Mutation_p.S228C|RBM4B_ENST00000529195.2_5'Flank|RP11-658F2.8_ENST00000550837.1_RNA|RP11-658F2.8_ENST00000548810.1_RNA|RBM4B_ENST00000531969.1_Intron|RBM4B_ENST00000524637.1_3'UTR			Q9BQ04	RBM4B_HUMAN	RNA binding motif protein 4B	228	Interaction with TNPO3. {ECO:0000250}.				circadian regulation of gene expression (GO:0032922)|circadian rhythm (GO:0007623)|entrainment of circadian clock by photoperiod (GO:0043153)|mRNA processing (GO:0006397)|positive regulation of gene expression (GO:0010628)|regulation of translation (GO:0006417)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|large_intestine(4)|lung(1)|urinary_tract(2)	10						TGCCTCATAAGAGCGGACCCG	0.537																																						uc001oja.2		NA																	0					0						c.(682-684)TCT>TGT		RNA binding motif protein 4B							85.0	78.0	81.0					11																	66436492		2200	4295	6495	SO:0001583	missense	83759				circadian regulation of gene expression|entrainment of circadian clock by photoperiod|mRNA processing|RNA splicing	nucleolus	nucleotide binding|RNA binding|zinc ion binding	g.chr11:66436492G>C	AK095158	CCDS8149.1, CCDS66144.1	11q13	2013-02-12	2006-01-25	2006-01-25				"""Zinc fingers, CCHC domain containing"", ""RNA binding motif (RRM) containing"""	28842	protein-coding gene	gene with protein product			"""RNA binding motif protein 30"""	RBM30		12477932	Standard	XR_247213		Approved	MGC10871, ZCCHC15, RBM4L, ZCRB3B, ZCCHC21B	uc001ojb.3	Q9BQ04		ENST00000525754.1:c.683C>G	11.37:g.66436492G>C	ENSP00000433071:p.Ser228Cys					RBM4B_uc001ojb.2_Missense_Mutation_p.S228C	p.S228C	NM_031492	NP_113680	Q9BQ04	RBM4B_HUMAN			2	1352	-			228			Interaction with TNPO3 (By similarity).		B3KT83	Missense_Mutation	SNP	ENST00000525754.1	37	c.683C>G	CCDS8149.1	.	.	.	.	.	.	.	.	.	.	G	16.88	3.244144	0.59103	.	.	ENSG00000173914	ENST00000525754;ENST00000310046	T;T	0.25912	1.77;1.77	5.4	5.4	0.78164	.	0.175631	0.64402	D	0.000020	T	0.27241	0.0668	L	0.40543	1.245	0.80722	D	1	P	0.51653	0.947	B	0.43754	0.43	T	0.01013	-1.1481	10	0.41790	T	0.15	-23.0404	18.1095	0.89530	0.0:0.0:1.0:0.0	.	228	Q9BQ04	RBM4B_HUMAN	C	228	ENSP00000433071:S228C;ENSP00000310471:S228C	ENSP00000310471:S228C	S	-	2	0	RBM4B	66193068	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	4.191000	0.58372	2.822000	0.97130	0.650000	0.86243	TCT		0.537	RBM4B-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393851.1	NM_031492		3	76	0	0	0	0	3	76				
IGHMBP2	3508	broad.mit.edu	37	11	68707045	68707045	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr11:68707045G>A	ENST00000255078.3	+	15	2939	c.2828G>A	c.(2827-2829)aGa>aAa	p.R943K	RP11-757G1.5_ENST00000542410.1_RNA	NM_002180.2	NP_002171.2	P38935	SMBP2_HUMAN	immunoglobulin mu binding protein 2	943					ATP catabolic process (GO:0006200)|cell death (GO:0008219)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|protein homooligomerization (GO:0051260)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)	axon (GO:0030424)|cytoplasm (GO:0005737)|growth cone (GO:0030426)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|ATP-dependent 5'-3' DNA helicase activity (GO:0043141)|ATP-dependent 5'-3' RNA helicase activity (GO:0032575)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA-dependent ATPase activity (GO:0008094)|ribosome binding (GO:0043022)|RNA binding (GO:0003723)|RNA-dependent ATPase activity (GO:0008186)|single-stranded DNA binding (GO:0003697)|transcription factor binding (GO:0008134)|tRNA binding (GO:0000049)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|liver(1)|lung(15)|ovary(2)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			GCCCGGCAGAGAATCAGCCGG	0.642																																						uc001ook.1		NA																	0					0						c.(2827-2829)AGA>AAA		immunoglobulin mu binding protein 2							32.0	37.0	35.0					11																	68707045		2200	4294	6494	SO:0001583	missense	3508				cell death|DNA recombination|DNA repair|DNA replication|protein homooligomerization|transcription, DNA-dependent|translation	axon|growth cone|nucleus|ribonucleoprotein complex	ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' RNA helicase activity|ribosome binding|single-stranded DNA binding|transcription factor binding|tRNA binding|zinc ion binding	g.chr11:68707045G>A	L14754	CCDS8187.1	11q13.3	2014-09-17			ENSG00000132740	ENSG00000132740		"""Zinc fingers, AN1-type domain containing"""	5542	protein-coding gene	gene with protein product	"""cardiac transcription factor 1"", ""zinc finger, AN1-type domain 7"""	600502				8349627	Standard	NM_002180		Approved	ZFAND7, SMUBP2, CATF1, SMARD1, HCSA, HMN6	uc001ook.1	P38935	OTTHUMG00000167894	ENST00000255078.3:c.2828G>A	11.37:g.68707045G>A	ENSP00000255078:p.Arg943Lys					IGHMBP2_uc001ool.1_Missense_Mutation_p.R567K	p.R943K	NM_002180	NP_002171	P38935	SMBP2_HUMAN	STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)		15	2930	+			943					A0PJD2|Q00443|Q14177	Missense_Mutation	SNP	ENST00000255078.3	37	c.2828G>A	CCDS8187.1	.	.	.	.	.	.	.	.	.	.	G	16.74	3.207682	0.58343	.	.	ENSG00000132740	ENST00000255078	T	0.41065	1.01	4.54	2.62	0.31277	Zinc finger, AN1-type (1);	0.112530	0.64402	D	0.000014	T	0.35098	0.0920	L	0.53249	1.67	0.80722	D	1	P	0.46395	0.877	B	0.43194	0.411	T	0.12837	-1.0532	10	0.12766	T	0.61	-7.5391	9.7631	0.40543	0.1798:0.0:0.8202:0.0	.	943	P38935	SMBP2_HUMAN	K	943	ENSP00000255078:R943K	ENSP00000255078:R943K	R	+	2	0	IGHMBP2	68463621	1.000000	0.71417	0.966000	0.40874	0.760000	0.43138	4.093000	0.57714	0.885000	0.36088	0.491000	0.48974	AGA		0.642	IGHMBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396862.1	NM_002180		16	60	0	0	0	0	16	60				
PDE2A	5138	broad.mit.edu	37	11	72290599	72290599	+	Silent	SNP	G	G	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr11:72290599G>T	ENST00000334456.5	-	26	2480	c.2235C>A	c.(2233-2235)atC>atA	p.I745I	PDE2A_ENST00000544570.1_Silent_p.I738I|PDE2A_ENST00000540345.1_Silent_p.I736I|PDE2A_ENST00000444035.2_Silent_p.I736I|PDE2A_ENST00000376450.3_Silent_p.I489I|PDE2A_ENST00000418754.2_Silent_p.I630I	NM_002599.4	NP_002590.1	O00408	PDE2A_HUMAN	phosphodiesterase 2A, cGMP-stimulated	745	Catalytic. {ECO:0000250}.				blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cGMP (GO:0071321)|cellular response to drug (GO:0035690)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cellular response to mechanical stimulus (GO:0071260)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cGMP catabolic process (GO:0046069)|cGMP-mediated signaling (GO:0019934)|establishment of endothelial barrier (GO:0061028)|metabolic process (GO:0008152)|monocyte differentiation (GO:0030224)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of protein import into nucleus, translocation (GO:0033159)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of vascular permeability (GO:0043116)|positive regulation of inflammatory response (GO:0050729)|positive regulation of vascular permeability (GO:0043117)|protein targeting to mitochondrion (GO:0006626)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|mitochondrial matrix (GO:0005759)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	calcium channel activity (GO:0005262)|cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity (GO:0004118)|cyclic-nucleotide phosphodiesterase activity (GO:0004112)|drug binding (GO:0008144)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|TPR domain binding (GO:0030911)			breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	36			BRCA - Breast invasive adenocarcinoma(5;3.55e-05)		Caffeine(DB00201)|Tofisopam(DB08811)	AATGATCAAAGATGTTGCAGC	0.632																																						uc010rrc.1		NA																	0				ovary(2)|breast(1)|skin(1)	4						c.(2233-2235)ATC>ATA		phosphodiesterase 2A isoform 1	Sildenafil(DB00203)|Sulindac(DB00605)						46.0	49.0	48.0					11																	72290599		2200	4293	6493	SO:0001819	synonymous_variant	5138				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity|metal ion binding	g.chr11:72290599G>T	U67733	CCDS8216.1, CCDS44670.1, CCDS53678.1, CCDS73345.1	11q13.1-q14.1	2008-05-14			ENSG00000186642	ENSG00000186642	3.1.4.17	"""Phosphodiesterases"""	8777	protein-coding gene	gene with protein product		602658				9210593	Standard	NM_002599		Approved		uc010rrc.2	O00408	OTTHUMG00000102045	ENST00000334456.5:c.2235C>A	11.37:g.72290599G>T						PDE2A_uc001oso.2_Silent_p.I724I|PDE2A_uc010rra.1_Silent_p.I738I|PDE2A_uc001osn.2_Silent_p.I489I|PDE2A_uc010rrb.1_Silent_p.I736I|PDE2A_uc010rrd.1_Silent_p.I630I	p.I745I	NM_002599	NP_002590	O00408	PDE2A_HUMAN	BRCA - Breast invasive adenocarcinoma(5;3.55e-05)		26	2478	-			745			Catalytic (By similarity).		B2R646|B3KRV5|E9PGI1|F6W5Z0|Q5J791|Q5J792|Q5J793|Q6ZMR1	Silent	SNP	ENST00000334456.5	37	c.2235C>A	CCDS8216.1																																																																																				0.632	PDE2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219839.2	NM_002599		14	70	1	0	4.75e-09	5e-09	14	70				
ARHGEF17	9828	broad.mit.edu	37	11	73073674	73073674	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr11:73073674G>A	ENST00000263674.3	+	14	5241	c.4891G>A	c.(4891-4893)Gag>Aag	p.E1631K		NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	1631					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						CCCCCGCCCAGAGCTGGTGCC	0.687																																						uc001otu.2		NA																	0					0						c.(4891-4893)GAG>AAG		Rho guanine nucleotide exchange factor (GEF) 17							24.0	27.0	26.0					11																	73073674		2199	4289	6488	SO:0001583	missense	9828				actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity	g.chr11:73073674G>A	AF378754	CCDS8221.1	11q13.3	2011-11-16			ENSG00000110237	ENSG00000110237		"""Rho guanine nucleotide exchange factors"""	21726	protein-coding gene	gene with protein product	"""Rho-specific guanine-nucleotide exchange factor 164 kDa"", ""tumor endothelial marker 4"""					11559528, 12071859	Standard	NM_014786		Approved	TEM4, KIAA0337, p164-RhoGEF	uc001otu.3	Q96PE2	OTTHUMG00000167971	ENST00000263674.3:c.4891G>A	11.37:g.73073674G>A	ENSP00000263674:p.Glu1631Lys						p.E1631K	NM_014786	NP_055601	Q96PE2	ARHGH_HUMAN			14	4912	+			1631					B2RP20|Q86XU2|Q8N2S0|Q9Y4G3	Missense_Mutation	SNP	ENST00000263674.3	37	c.4891G>A	CCDS8221.1	.	.	.	.	.	.	.	.	.	.	G	38	6.790353	0.97841	.	.	ENSG00000110237	ENST00000263674	T	0.60040	0.22	5.42	4.51	0.55191	.	0.115213	0.56097	N	0.000022	T	0.52322	0.1727	L	0.54323	1.7	0.58432	D	0.999991	B	0.32918	0.39	B	0.31290	0.127	T	0.54912	-0.8222	10	0.49607	T	0.09	-11.7978	13.3156	0.60405	0.0761:0.0:0.9239:0.0	.	1631	Q96PE2	ARHGH_HUMAN	K	1631	ENSP00000263674:E1631K	ENSP00000263674:E1631K	E	+	1	0	ARHGEF17	72751322	1.000000	0.71417	0.193000	0.23327	0.948000	0.59901	9.392000	0.97252	1.423000	0.47198	0.655000	0.94253	GAG		0.687	ARHGEF17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397365.1	NM_014786		17	35	0	0	0	0	17	35				
MYO7A	4647	broad.mit.edu	37	11	76891443	76891443	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr11:76891443G>C	ENST00000409709.3	+	22	2882	c.2610G>C	c.(2608-2610)gaG>gaC	p.E870D	MYO7A_ENST00000409619.2_Missense_Mutation_p.E859D|MYO7A_ENST00000458637.2_Missense_Mutation_p.E870D|MYO7A_ENST00000409893.1_Missense_Mutation_p.E870D	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	870					actin filament-based movement (GO:0030048)|auditory receptor cell stereocilium organization (GO:0060088)|equilibrioception (GO:0050957)|eye photoreceptor cell development (GO:0042462)|intracellular protein transport (GO:0006886)|lysosome organization (GO:0007040)|metabolic process (GO:0008152)|phagolysosome assembly (GO:0001845)|pigment granule transport (GO:0051904)|post-embryonic organ morphogenesis (GO:0048563)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|melanosome (GO:0042470)|myosin VII complex (GO:0031477)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|stereocilium (GO:0032420)|synapse (GO:0045202)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|spectrin binding (GO:0030507)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						TCGAGGCTGAGAAAATGCGGC	0.597																																						uc001oyb.2		NA																	0				ovary(3)|breast(1)	4						c.(2608-2610)GAG>GAC		myosin VIIA isoform 1							34.0	41.0	39.0					11																	76891443		2031	4173	6204	SO:0001583	missense	4647				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr11:76891443G>C	U39226	CCDS53683.1, CCDS53684.1, CCDS53685.1	11q13.5	2013-01-08	2005-09-12		ENSG00000137474	ENSG00000137474		"""A-kinase anchor proteins"", ""Myosins / Myosin superfamily : Class VII"""	7606	protein-coding gene	gene with protein product		276903	"""myosin VIIA (Usher syndrome 1B (autosomal recessive, severe))"""	USH1B, DFNB2, DFNA11		8884266	Standard	NM_000260		Approved	NSRD2	uc001oyb.2	Q13402	OTTHUMG00000152822	ENST00000409709.3:c.2610G>C	11.37:g.76891443G>C	ENSP00000386331:p.Glu870Asp					MYO7A_uc010rsl.1_Missense_Mutation_p.E870D|MYO7A_uc010rsm.1_Missense_Mutation_p.E859D|MYO7A_uc001oyc.2_Missense_Mutation_p.E870D|MYO7A_uc001oyd.2_Missense_Mutation_p.E210D|MYO7A_uc009yus.1_RNA|MYO7A_uc009yut.1_Missense_Mutation_p.E81D	p.E870D	NM_000260	NP_000251	Q13402	MYO7A_HUMAN			22	2882	+			870			Potential.		B9A011|F8VUN5|P78427|Q13321|Q14785|Q92821|Q92822	Missense_Mutation	SNP	ENST00000409709.3	37	c.2610G>C	CCDS53683.1	.	.	.	.	.	.	.	.	.	.	.	18.28	3.588403	0.66105	.	.	ENSG00000137474	ENST00000409709;ENST00000409893;ENST00000458637;ENST00000409619;ENST00000545136;ENST00000358342;ENST00000343356;ENST00000341717;ENST00000343419;ENST00000458169	D;D;D;D;D	0.89123	-2.42;-2.47;-2.42;-2.44;-2.18	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	D	0.82815	0.5119	N	0.08118	0	0.58432	D	0.999995	B;D;B;P	0.62365	0.278;0.991;0.025;0.682	B;P;B;B	0.54100	0.248;0.742;0.033;0.225	T	0.79918	-0.1600	10	0.12766	T	0.61	.	13.2901	0.60267	0.0764:0.0:0.9236:0.0	.	870;859;870;870	B9A012;B9A011;F8VUN5;Q13402	.;.;.;MYO7A_HUMAN	D	870;870;870;859;81;869;869;746;869;51	ENSP00000386331:E870D;ENSP00000386689:E870D;ENSP00000392185:E870D;ENSP00000386635:E859D;ENSP00000417017:E51D	ENSP00000345075:E746D	E	+	3	2	MYO7A	76569091	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	4.540000	0.60664	2.476000	0.83614	0.448000	0.29417	GAG		0.597	MYO7A-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000328133.1	NM_000260		12	23	0	0	0	0	12	23				
BIRC3	330	broad.mit.edu	37	11	102195714	102195714	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr11:102195714G>A	ENST00000263464.3	+	2	3224	c.474G>A	c.(472-474)atG>atA	p.M158I	BIRC3_ENST00000532808.1_Missense_Mutation_p.M158I	NM_001165.4	NP_001156.1	Q13489	BIRC3_HUMAN	baculoviral IAP repeat containing 3	158					apoptotic process (GO:0006915)|cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of necroptotic process (GO:0060546)|negative regulation of phosphorylation (GO:0042326)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|NIK/NF-kappaB signaling (GO:0038061)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of protein ubiquitination (GO:0031398)|protein heterooligomerization (GO:0051291)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|regulation of cysteine-type endopeptidase activity (GO:2000116)|regulation of inflammatory response (GO:0050727)|regulation of innate immune response (GO:0045088)|regulation of necroptotic process (GO:0060544)|regulation of nucleotide-binding oligomerization domain containing signaling pathway (GO:0070424)|regulation of RIG-I signaling pathway (GO:0039535)|regulation of toll-like receptor signaling pathway (GO:0034121)|spermatogenesis (GO:0007283)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane raft (GO:0045121)|nucleus (GO:0005634)|protein complex (GO:0043234)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(2)|large_intestine(7)|lung(5)|ovary(3)|skin(1)	21	all_cancers(8;0.00044)|all_epithelial(12;0.00348)|Lung NSC(15;0.227)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0093)	Lung(13;0.109)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0146)		CTGCCTTGATGAGAAGTTCCT	0.408			T	MALT1	MALT																																	uc001pgx.2		NA		Dom	yes		11	11q22-q23	330	T	baculoviral IAP repeat-containing 3			L	MALT1		MALT		0				ovary(3)|skin(1)	4						c.(472-474)ATG>ATA		baculoviral IAP repeat-containing protein 3							133.0	137.0	136.0					11																	102195714		2203	4299	6502	SO:0001583	missense	330				anti-apoptosis|apoptosis|cell surface receptor linked signaling pathway	cytoplasm|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr11:102195714G>A	L49432	CCDS8315.1	11q22	2011-01-25	2011-01-25			ENSG00000023445		"""Baculoviral IAP repeat containing"", ""RING-type (C3HC4) zinc fingers"""	591	protein-coding gene	gene with protein product	"""apoptosis inhibitor 2"", ""TNFR2-TRAF signaling complex protein"", ""mammalian IAP homolog C"", ""inhibitor of apoptosis protein 1"""	601721	"""baculoviral IAP repeat-containing 3"""	API2		8552191, 8548810	Standard	NM_001165		Approved	cIAP2, hiap-1, MIHC, RNF49, MALT2, c-IAP2	uc001pgx.3	Q13489		ENST00000263464.3:c.474G>A	11.37:g.102195714G>A	ENSP00000263464:p.Met158Ile						p.M158I	NM_182962	NP_892007	Q13489	BIRC3_HUMAN	Lung(13;0.109)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0146)	3	696	+	all_cancers(8;0.00044)|all_epithelial(12;0.00348)|Lung NSC(15;0.227)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0093)	158					Q16628|Q9HC27|Q9UP46	Missense_Mutation	SNP	ENST00000263464.3	37	c.474G>A	CCDS8315.1	.	.	.	.	.	.	.	.	.	.	G	4.397	0.073379	0.08485	.	.	ENSG00000023445	ENST00000263464;ENST00000532808;ENST00000532609	T;T	0.19105	2.17;2.17	5.4	2.22	0.28083	Baculoviral inhibition of apoptosis protein repeat (1);	0.244588	0.53938	D	0.000052	T	0.08980	0.0222	N	0.08118	0	0.09310	N	1	B	0.19817	0.039	B	0.12837	0.008	T	0.27971	-1.0058	10	0.28530	T	0.3	.	7.058	0.25109	0.2131:0.3679:0.419:0.0	.	158	Q13489	BIRC3_HUMAN	I	158;158;7	ENSP00000263464:M158I;ENSP00000432907:M158I	ENSP00000263464:M158I	M	+	3	0	BIRC3	101700924	0.684000	0.27642	0.018000	0.16275	0.164000	0.22412	1.093000	0.30939	0.767000	0.33267	0.591000	0.81541	ATG		0.408	BIRC3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394159.1	NM_001165		60	147	0	0	0	0	60	147				
DYNC2H1	79659	broad.mit.edu	37	11	103047052	103047052	+	Silent	SNP	G	G	C			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr11:103047052G>C	ENST00000375735.2	+	37	5907	c.5763G>C	c.(5761-5763)ctG>ctC	p.L1921L	DYNC2H1_ENST00000334267.7_Intron|DYNC2H1_ENST00000398093.3_Silent_p.L1921L	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	1921					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|asymmetric protein localization (GO:0008105)|cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|forebrain development (GO:0030900)|Golgi organization (GO:0007030)|intraciliary retrograde transport (GO:0035721)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|spinal cord motor neuron differentiation (GO:0021522)	apical part of cell (GO:0045177)|axoneme (GO:0005930)|cytosol (GO:0005829)|dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile primary cilium (GO:0031512)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		TTGATGCACTGATAAAAGATG	0.363																																						uc001pho.2		NA																	0					0						c.(5761-5763)CTG>CTC		dynein, cytoplasmic 2, heavy chain 1							82.0	77.0	78.0					11																	103047052		1828	4086	5914	SO:0001819	synonymous_variant	79659				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity	g.chr11:103047052G>C	AB082528	CCDS44717.1, CCDS53701.1	11q21-q22.1	2011-06-02	2005-11-24	2005-11-24	ENSG00000187240	ENSG00000187240		"""Cytoplasmic dyneins"""	2962	protein-coding gene	gene with protein product		603297	"""dynein, cytoplasmic, heavy polypeptide 2"""	DNCH2		9763680, 9373155	Standard	NM_001080463		Approved	hdhc11, DHC2, DHC1b, DYH1B	uc001phn.1	Q8NCM8	OTTHUMG00000165941	ENST00000375735.2:c.5763G>C	11.37:g.103047052G>C						DYNC2H1_uc001phn.1_Silent_p.L1921L|DYNC2H1_uc009yxe.1_Intron	p.L1921L	NM_001080463	NP_001073932	Q8NCM8	DYHC2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)	37	5907	+		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)	1921					O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	Silent	SNP	ENST00000375735.2	37	c.5763G>C	CCDS53701.1																																																																																				0.363	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387196.1	XM_370652		5	18	0	0	0	0	5	18				
CASP5	838	broad.mit.edu	37	11	104871152	104871152	+	Missense_Mutation	SNP	A	A	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr11:104871152A>T	ENST00000260315.3	-	6	787	c.788T>A	c.(787-789)gTa>gAa	p.V263E	CASP5_ENST00000531367.1_Missense_Mutation_p.V121E|CASP5_ENST00000393141.2_Missense_Mutation_p.V276E|CASP5_ENST00000418434.1_Missense_Mutation_p.V121E|CASP5_ENST00000526056.1_Missense_Mutation_p.V276E|CASP5_ENST00000393139.2_3'UTR|CASP5_ENST00000444749.2_Missense_Mutation_p.V205E			P51878	CASP5_HUMAN	caspase 5, apoptosis-related cysteine peptidase	263					apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|execution phase of apoptosis (GO:0097194)|proteolysis (GO:0006508)|regulation of apoptotic process (GO:0042981)|regulation of inflammatory response (GO:0050727)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|NLRP1 inflammasome complex (GO:0072558)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|ovary(3)|skin(1)|urinary_tract(1)	35		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000943)|Epithelial(105;0.0104)|all cancers(92;0.042)		AGACATGAGTACCAAGAACGT	0.458																																						uc010rva.1		NA																	0				ovary(2)|lung(1)	3						c.(787-789)GTA>GAA		caspase 5 isoform a precursor							132.0	119.0	123.0					11																	104871152		2202	4299	6501	SO:0001583	missense	838				apoptosis|cellular response to mechanical stimulus|proteolysis|regulation of apoptosis	intracellular	cysteine-type endopeptidase activity|protein binding	g.chr11:104871152A>T		CCDS8328.2, CCDS44718.1, CCDS44719.1, CCDS44720.1	11q22.2-q22.3	2006-02-17	2005-08-17		ENSG00000137757	ENSG00000137757		"""Caspases"""	1506	protein-coding gene	gene with protein product		602665	"""caspase 5, apoptosis-related cysteine protease"""			7797592, 9250871	Standard	NM_004347		Approved	ICE(rel)III	uc010ruz.1	P51878	OTTHUMG00000048073	ENST00000260315.3:c.788T>A	11.37:g.104871152A>T	ENSP00000260315:p.Val263Glu					CASP5_uc010ruz.1_Missense_Mutation_p.V276E|CASP5_uc010rvb.1_Missense_Mutation_p.V205E|CASP5_uc010rvc.1_Missense_Mutation_p.V121E|CASP5_uc009yxh.2_Missense_Mutation_p.V45E|CASP5_uc010rvd.1_Missense_Mutation_p.V45E	p.V263E	NM_004347	NP_004338	P51878	CASP5_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.000943)|Epithelial(105;0.0104)|all cancers(92;0.042)	6	820	-		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)	263					B4DKP5|Q0QVY7|Q0QVY8|Q0QVZ0|Q0QVZ1|Q0QVZ2|Q14DD6|Q1HBJ3|Q6DJV7	Missense_Mutation	SNP	ENST00000260315.3	37	c.788T>A	CCDS8328.2	.	.	.	.	.	.	.	.	.	.	.	13.77	2.335136	0.41398	.	.	ENSG00000137757	ENST00000393141;ENST00000418434;ENST00000260315;ENST00000444749;ENST00000526056;ENST00000531367	T;T;T;T;T;T	0.24908	1.83;1.83;1.83;1.83;1.83;1.83	4.21	4.21	0.49690	Peptidase C14, caspase catalytic (1);Peptidase C14, caspase precursor p45, core (2);Peptidase C14, ICE, catalytic subunit p20 (1);	0.000000	0.85682	D	0.000000	T	0.62901	0.2466	H	0.96889	3.9	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;0.998;1.0;0.999	T	0.74714	-0.3572	10	0.87932	D	0	.	11.5415	0.50669	1.0:0.0:0.0:0.0	.	121;205;263;276	P51878-3;P51878-2;P51878;P51878-5	.;.;CASP5_HUMAN;.	E	276;121;263;205;276;121	ENSP00000376849:V276E;ENSP00000398130:V121E;ENSP00000260315:V263E;ENSP00000388365:V205E;ENSP00000436877:V276E;ENSP00000434471:V121E	ENSP00000260315:V263E	V	-	2	0	CASP5	104376362	0.998000	0.40836	0.044000	0.18714	0.017000	0.09413	4.574000	0.60900	1.684000	0.51022	0.172000	0.16884	GTA		0.458	CASP5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000109397.2	NM_004347		22	81	0	0	0	0	22	81				
CUL5	8065	broad.mit.edu	37	11	107975080	107975080	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr11:107975080C>G	ENST00000393094.2	+	19	2928	c.2312C>G	c.(2311-2313)tCt>tGt	p.S771C	RP11-144G7.2_ENST00000525548.1_RNA	NM_003478.3	NP_003469.2	Q93034	CUL5_HUMAN	cullin 5	771					calcium ion transmembrane transport (GO:0070588)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|cytosolic calcium ion homeostasis (GO:0051480)|G1/S transition of mitotic cell cycle (GO:0000082)|intrinsic apoptotic signaling pathway (GO:0097193)|negative regulation of cell proliferation (GO:0008285)|protein ubiquitination (GO:0016567)|response to osmotic stress (GO:0006970)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	Cul5-RING ubiquitin ligase complex (GO:0031466)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|receptor activity (GO:0004872)|ubiquitin protein ligase binding (GO:0031625)			endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	23		all_cancers(61;7.09e-10)|all_epithelial(67;2.97e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|Melanoma(852;4.48e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;3.58e-05)|Epithelial(105;4.68e-05)|all cancers(92;0.00122)|OV - Ovarian serous cystadenocarcinoma(223;0.217)		AGAGATGAATCTGATATCAAC	0.308																																						uc001pjv.2		NA																	0				ovary(1)	1						c.(2311-2313)TCT>TGT		Vasopressin-activated calcium-mobilizing							78.0	83.0	82.0					11																	107975080		2201	4294	6495	SO:0001583	missense	8065				cell cycle arrest|cell proliferation|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process|viral reproduction	cullin-RING ubiquitin ligase complex|cytosol	calcium channel activity|receptor activity|ubiquitin protein ligase binding	g.chr11:107975080C>G	X81882	CCDS31668.1	11q22.3	2011-05-24			ENSG00000166266	ENSG00000166266			2556	protein-coding gene	gene with protein product		601741				8681378, 9037604	Standard	XM_005271682		Approved	VACM-1	uc001pjv.3	Q93034	OTTHUMG00000166369	ENST00000393094.2:c.2312C>G	11.37:g.107975080C>G	ENSP00000376808:p.Ser771Cys					CUL5_uc001pju.2_RNA	p.S771C	NM_003478	NP_003469	Q93034	CUL5_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.58e-05)|Epithelial(105;4.68e-05)|all cancers(92;0.00122)|OV - Ovarian serous cystadenocarcinoma(223;0.217)	19	2979	+		all_cancers(61;7.09e-10)|all_epithelial(67;2.97e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|Melanoma(852;4.48e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)	771					A8K960|O14766|Q9BZC6	Missense_Mutation	SNP	ENST00000393094.2	37	c.2312C>G	CCDS31668.1	.	.	.	.	.	.	.	.	.	.	C	8.006	0.756502	0.15846	.	.	ENSG00000166266	ENST00000393094	T	0.69926	-0.44	5.42	5.42	0.78866	Cullin protein, neddylation domain (2);Winged helix-turn-helix transcription repressor DNA-binding (1);Cullin, conserved site (1);	0.246361	0.42294	D	0.000728	T	0.68174	0.2972	L	0.58510	1.815	0.46222	D	0.99893	B	0.21688	0.059	B	0.27796	0.083	T	0.66212	-0.5980	10	0.66056	D	0.02	-5.8703	19.5864	0.95492	0.0:1.0:0.0:0.0	.	771	Q93034	CUL5_HUMAN	C	771	ENSP00000376808:S771C	ENSP00000376808:S771C	S	+	2	0	CUL5	107480290	1.000000	0.71417	0.907000	0.35723	0.077000	0.17291	5.700000	0.68318	2.705000	0.92388	0.655000	0.94253	TCT		0.308	CUL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389429.1			29	112	0	0	0	0	29	112				
SIK3	23387	broad.mit.edu	37	11	116730297	116730297	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr11:116730297G>C	ENST00000292055.4	-	19	2166	c.2131C>G	c.(2131-2133)Caa>Gaa	p.Q711E	SIK3_ENST00000375300.1_Missense_Mutation_p.Q769E|SIK3_ENST00000542607.1_Missense_Mutation_p.Q711E|SIK3_ENST00000488337.1_5'UTR|SIK3_ENST00000446921.2_Missense_Mutation_p.Q769E|SIK3_ENST00000375288.1_Missense_Mutation_p.Q106E|SIK3_ENST00000434315.2_Missense_Mutation_p.Q610E	NM_025164.3	NP_079440.3	Q9Y2K2	SIK3_HUMAN	SIK family kinase 3	711	Gln-rich.				protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	57						GGTAAGCCTTGAAACTGGGAA	0.537											OREG0003491	type=REGULATORY REGION|Gene=AK022302|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										uc001ppy.2		NA																	0				ovary(4)|breast(3)|stomach(2)|lung(1)|skin(1)|kidney(1)	12						c.(2131-2133)CAA>GAA		serine/threonine-protein kinase QSK							63.0	62.0	63.0					11																	116730297		2201	4296	6497	SO:0001583	missense	23387					cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr11:116730297G>C	AB023216	CCDS8379.1, CCDS60974.1, CCDS8379.2	11q23.3	2010-02-17			ENSG00000160584	ENSG00000160584			29165	protein-coding gene	gene with protein product		614776				10231032, 8889548	Standard	NM_025164		Approved	FLJ12240, L19, KIAA0999, QSK	uc001ppy.3	Q9Y2K2	OTTHUMG00000066628	ENST00000292055.4:c.2131C>G	11.37:g.116730297G>C	ENSP00000292055:p.Gln711Glu		OREG0003491	type=REGULATORY REGION|Gene=AK022302|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	1475	SIK3_uc001ppz.2_Missense_Mutation_p.Q610E|SIK3_uc001pqa.2_Missense_Mutation_p.Q711E|SIK3_uc001ppw.2_Missense_Mutation_p.Q128E|SIK3_uc001ppx.2_Missense_Mutation_p.Q149E|SIK3_uc001pqb.2_Missense_Mutation_p.Q14E	p.Q711E	NM_025164	NP_079440	Q9Y2K2	SIK3_HUMAN			19	2167	-			711			Gln-rich.		A1A5A8|Q59FY2|Q5M9N1|Q6P3R6|Q8IYM8|Q9HA50	Missense_Mutation	SNP	ENST00000292055.4	37	c.2131C>G	CCDS8379.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.92|16.92	3.255913|3.255913	0.59321|0.59321	.|.	.|.	ENSG00000160584|ENSG00000160584	ENST00000375300;ENST00000292055;ENST00000375288;ENST00000542607;ENST00000434315|ENST00000445177;ENST00000446921	T;T;T;T;T|.	0.72725|.	-0.65;-0.68;1.21;-0.63;-0.25|.	5.57|5.57	5.57|5.57	0.84162|0.84162	Protein kinase-like domain (1);|.	0.181236|.	0.26400|.	U|.	0.024583|.	T|.	0.58793|.	0.2147|.	L|L	0.29908|0.29908	0.895|0.895	0.37399|0.37399	D|D	0.912758|0.912758	B;B;B;B;P|.	0.34639|.	0.305;0.203;0.13;0.352;0.461|.	B;B;B;B;B|.	0.35688|.	0.208;0.103;0.087;0.087;0.145|.	T|.	0.57849|.	-0.7740|.	10|.	0.87932|.	D|.	0|.	.|.	19.5356|19.5356	0.95253|0.95253	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	711;711;610;711;106|.	Q9Y2K2-3;A1A5A8;A1A5A9;Q9Y2K2;Q9Y2K2-2|.	.;.;.;SIK3_HUMAN;.|.	E|X	769;711;106;711;610|810;733	ENSP00000364449:Q769E;ENSP00000292055:Q711E;ENSP00000364437:Q106E;ENSP00000438108:Q711E;ENSP00000415873:Q610E|.	ENSP00000292055:Q711E|.	Q|S	-|-	1|2	0|0	SIK3|SIK3	116235507|116235507	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.857000|0.857000	0.48899|0.48899	6.197000|6.197000	0.72100|0.72100	2.596000|2.596000	0.87737|0.87737	0.655000|0.655000	0.94253|0.94253	CAA|TCA		0.537	SIK3-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_025164		7	64	0	0	0	0	7	64				
UBE4A	9354	broad.mit.edu	37	11	118239345	118239345	+	Splice_Site	SNP	G	G	C			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr11:118239345G>C	ENST00000431736.2	+	3	193		c.e3-1		UBE4A_ENST00000252108.3_Splice_Site					ubiquitination factor E4A											autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(7)|liver(2)|lung(14)|ovary(3)|prostate(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	56	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)		TTTTCTGGCAGATGAACTCCC	0.413																																						uc001psw.2		NA																	0				ovary(2)|upper_aerodigestive_tract(1)|breast(1)|kidney(1)	5						c.e3-1		ubiquitination factor E4A							170.0	174.0	172.0					11																	118239345		2200	4296	6496	SO:0001630	splice_region_variant	9354				ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding	g.chr11:118239345G>C	D50916	CCDS8396.1, CCDS55790.1	11q23.3	2013-01-28	2011-05-19					"""U-box domain containing"""	12499	protein-coding gene	gene with protein product		603753	"""ubiquitination factor E4A (homologous to yeast UFD2)"", ""ubiquitination factor E4A (UFD2 homolog, yeast)"""			10089879	Standard	NM_004788		Approved	UBOX2, UFD2, KIAA0126, E4	uc001psv.3	Q14139	OTTHUMG00000168100	ENST00000431736.2:c.122-1G>C	11.37:g.118239345G>C						UBE4A_uc001psv.2_Splice_Site_p.D41_splice	p.D41_splice	NM_004788	NP_004779	Q14139	UBE4A_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)	3	251	+	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)							Splice_Site	SNP	ENST00000431736.2	37	c.122_splice	CCDS8396.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.390985	0.82902	.	.	ENSG00000110344	ENST00000252108;ENST00000431736	.	.	.	5.0	5.0	0.66597	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.4888	0.90839	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	UBE4A	117744555	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.700000	0.68318	2.605000	0.88082	0.655000	0.94253	.		0.413	UBE4A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398143.1	NM_004788	Intron	87	249	0	0	0	0	87	249				
TRAPPC4	51399	broad.mit.edu	37	11	118892481	118892481	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr11:118892481G>C	ENST00000533632.1	+	4	830	c.466G>C	c.(466-468)Gtg>Ctg	p.V156L	MIR3656_ENST00000577421.1_RNA|TRAPPC4_ENST00000533058.1_Missense_Mutation_p.V156L|TRAPPC4_ENST00000528230.1_Missense_Mutation_p.V113L|TRAPPC4_ENST00000526141.1_3'UTR|TRAPPC4_ENST00000525303.1_Missense_Mutation_p.V63L|SLC37A4_ENST00000525102.1_5'Flank|TRAPPC4_ENST00000434101.2_Missense_Mutation_p.V102L|TRAPPC4_ENST00000359005.4_Intron	NM_016146.4	NP_057230.1	Q9Y296	TPPC4_HUMAN	trafficking protein particle complex 4	156					dendrite development (GO:0016358)|ER to Golgi vesicle-mediated transport (GO:0006888)|extracellular matrix organization (GO:0030198)	cis-Golgi network (GO:0005801)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi stack (GO:0005795)|synapse (GO:0045202)|synaptic vesicle (GO:0008021)|TRAPP complex (GO:0030008)				NS(1)|endometrium(1)|large_intestine(2)|lung(1)	5	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_neural(223;0.224)|all_hematologic(192;0.243)		BRCA - Breast invasive adenocarcinoma(274;7.58e-05)		GATCAAGTTTGTGGTTCTAGC	0.408																																						uc010ryo.1		NA																	0					0						c.(466-468)GTG>CTG		trafficking protein particle complex 4							113.0	104.0	107.0					11																	118892481		2200	4295	6495	SO:0001583	missense	51399				dendrite development|ER to Golgi vesicle-mediated transport	cis-Golgi network|dendrite|endoplasmic reticulum|Golgi stack|synaptic vesicle	protein binding	g.chr11:118892481G>C	AF078862	CCDS8407.1	11q23.3	2011-10-10				ENSG00000196655		"""Trafficking protein particle complex"""	19943	protein-coding gene	gene with protein product		610971				10810093	Standard	NM_016146		Approved	TRS23, SBDN, PTD009	uc010ryo.2	Q9Y296		ENST00000533632.1:c.466G>C	11.37:g.118892481G>C	ENSP00000436005:p.Val156Leu					TRAPPC4_uc010ryp.1_Missense_Mutation_p.V102L|TRAPPC4_uc001pup.2_RNA|TRAPPC4_uc010ryq.1_Intron	p.V156L	NM_016146	NP_057230	Q9Y296	TPPC4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.58e-05)	4	731	+	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_neural(223;0.224)|all_hematologic(192;0.243)	156					A8K3A5|B4DME1	Missense_Mutation	SNP	ENST00000533632.1	37	c.466G>C	CCDS8407.1	.	.	.	.	.	.	.	.	.	.	G	11.42	1.632896	0.29068	.	.	ENSG00000196655	ENST00000533632;ENST00000528230;ENST00000525303;ENST00000434101;ENST00000533058	D;D;D;D;D	0.84070	-1.8;-1.8;-1.8;-1.8;-1.8	5.92	5.01	0.66863	Longin-like (1);	0.163302	0.53938	D	0.000042	T	0.72415	0.3457	L	0.27053	0.805	0.53688	D	0.999978	B;B	0.10296	0.0;0.003	B;B	0.15052	0.012;0.003	T	0.66980	-0.5786	10	0.37606	T	0.19	-14.8308	10.3899	0.44162	0.2038:0.0:0.7962:0.0	.	102;156	B4DME1;Q9Y296	.;TPPC4_HUMAN	L	156;113;63;102;156	ENSP00000436005:V156L;ENSP00000436827:V113L;ENSP00000435339:V63L;ENSP00000405033:V102L;ENSP00000432920:V156L	ENSP00000405033:V102L	V	+	1	0	TRAPPC4	118397691	1.000000	0.71417	1.000000	0.80357	0.383000	0.30230	5.154000	0.64894	1.523000	0.49018	-0.150000	0.13652	GTG		0.408	TRAPPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389332.1	NM_016146		13	60	0	0	0	0	13	60				
FAM118B	79607	broad.mit.edu	37	11	126110786	126110786	+	Silent	SNP	C	C	G			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr11:126110786C>G	ENST00000533050.1	+	4	679	c.186C>G	c.(184-186)ctC>ctG	p.L62L	FAM118B_ENST00000360194.4_Silent_p.L62L|FAM118B_ENST00000529731.1_Silent_p.L62L|FAM118B_ENST00000525728.1_3'UTR	NM_024556.3	NP_078832.1	Q9BPY3	F118B_HUMAN	family with sequence similarity 118, member B	62										breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(1)	13	all_hematologic(175;0.145)	Breast(109;0.00156)|Lung NSC(97;0.00948)|all_lung(97;0.0101)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0784)		TTCCAGCCCTCAAATCCTGGA	0.453																																						uc001qdf.2		NA																	0					0						c.(184-186)CTC>CTG		hypothetical protein LOC79607							195.0	208.0	204.0					11																	126110786		2201	4299	6500	SO:0001819	synonymous_variant	79607							g.chr11:126110786C>G	BC001340	CCDS8470.1	11q24.2	2014-03-13				ENSG00000197798			26110	protein-coding gene	gene with protein product						24569877	Standard	NM_024556		Approved	FLJ21103	uc001qdf.3	Q9BPY3		ENST00000533050.1:c.186C>G	11.37:g.126110786C>G						FAM118B_uc009zca.2_Silent_p.L66L|FAM118B_uc001qdg.2_Silent_p.L62L	p.L62L	NM_024556	NP_078832	Q9BPY3	F118B_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0784)	4	369	+	all_hematologic(175;0.145)	Breast(109;0.00156)|Lung NSC(97;0.00948)|all_lung(97;0.0101)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	62					Q9H7B0	Silent	SNP	ENST00000533050.1	37	c.186C>G	CCDS8470.1																																																																																				0.453	FAM118B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386346.1	NM_024556		74	256	0	0	0	0	74	256				
ADAMTS8	11095	broad.mit.edu	37	11	130275461	130275461	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr11:130275461G>A	ENST00000257359.6	-	9	3368	c.2662C>T	c.(2662-2664)Ccc>Tcc	p.P888S		NM_007037.4	NP_008968.4	Q9UP79	ATS8_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 8	888	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.				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)		AATCACAGGGGGCACAGCTGG	0.637																																						uc001qgg.3		NA																	0				central_nervous_system(1)	1						c.(2662-2664)CCC>TCC		ADAM metallopeptidase with thrombospondin type 1							48.0	52.0	51.0					11																	130275461		1977	4159	6136	SO:0001583	missense	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.chr11:130275461G>A	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.2662C>T	11.37:g.130275461G>A	ENSP00000257359:p.Pro888Ser					ADAMTS8_uc001qgf.2_Missense_Mutation_p.P369S	p.P888S	NM_007037	NP_008968	Q9UP79	ATS8_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)	9	3020	-	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)	888			TSP type-1 2.		Q9NZS0	Missense_Mutation	SNP	ENST00000257359.6	37	c.2662C>T	CCDS41732.1	.	.	.	.	.	.	.	.	.	.	G	16.31	3.087174	0.55968	.	.	ENSG00000134917	ENST00000531752;ENST00000257359;ENST00000414575	T	0.69806	-0.43	5.11	2.22	0.28083	.	0.116141	0.64402	N	0.000013	T	0.75488	0.3856	M	0.83118	2.625	0.46279	D	0.998969	P;P	0.52316	0.952;0.899	P;P	0.55615	0.616;0.78	T	0.74627	-0.3602	10	0.87932	D	0	.	7.9947	0.30261	0.1447:0.1324:0.723:0.0	.	888;369	Q9UP79;B3KVX9	ATS8_HUMAN;.	S	286;888;917	ENSP00000257359:P888S	ENSP00000257359:P888S	P	-	1	0	ADAMTS8	129780671	1.000000	0.71417	0.382000	0.26119	0.850000	0.48378	4.159000	0.58157	0.196000	0.20367	0.591000	0.81541	CCC		0.637	ADAMTS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385636.1	NM_007037		14	97	0	0	0	0	14	97				
IQSEC3	440073	broad.mit.edu	37	12	278251	278251	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr12:278251C>T	ENST00000538872.1	+	12	3162	c.3044C>T	c.(3043-3045)tCa>tTa	p.S1015L	IQSEC3_ENST00000326261.4_Missense_Mutation_p.S1015L|IQSEC3_ENST00000382841.2_Missense_Mutation_p.S712L|IQSEC3_ENST00000537151.1_3'UTR|RP11-598F7.6_ENST00000537295.1_lincRNA|RP11-598F7.5_ENST00000540136.1_RNA			Q9UPP2	IQEC3_HUMAN	IQ motif and Sec7 domain 3	1015					actin cytoskeleton organization (GO:0030036)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|inhibitory synapse (GO:0060077)|postsynaptic membrane (GO:0045211)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)		GACCCACAGTCAAAGCAAGGA	0.642																																						uc001qhw.1		NA																	0				central_nervous_system(2)|large_intestine(1)|skin(1)	4						c.(2134-2136)TCA>TTA		IQ motif and Sec7 domain 3							57.0	59.0	58.0					12																	278251		2203	4300	6503	SO:0001583	missense	440073				regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity	g.chr12:278251C>T	AB029033	CCDS31725.1, CCDS53728.1	12p13.33	2014-03-18			ENSG00000120645	ENSG00000120645			29193	protein-coding gene	gene with protein product		612118				10470851	Standard	NM_001170738		Approved	KIAA1110, MGC30156	uc001qhw.2	Q9UPP2	OTTHUMG00000167975	ENST00000538872.1:c.3044C>T	12.37:g.278251C>T	ENSP00000437554:p.Ser1015Leu					IQSEC3_uc001qhu.1_Missense_Mutation_p.S712L	p.S712L	NM_015232	NP_056047	Q9UPP2	IQEC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)	9	2141	+	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		1015					A6NIF2|A6NKV9|Q8TB43	Missense_Mutation	SNP	ENST00000538872.1	37	c.2135C>T	CCDS53728.1	.	.	.	.	.	.	.	.	.	.	C	14.82	2.648221	0.47258	.	.	ENSG00000120645	ENST00000538872;ENST00000326261;ENST00000382841	T;T;T	0.00717	5.79;5.79;5.79	5.28	3.46	0.39613	.	0.922212	0.09323	N	0.817943	T	0.01353	0.0044	L	0.59436	1.845	0.22873	N	0.998627	P;P	0.39737	0.498;0.685	B;B	0.39152	0.115;0.292	T	0.51188	-0.8737	10	0.42905	T	0.14	.	9.4056	0.38460	0.0:0.7807:0.0:0.2193	.	1015;712	Q9UPP2;Q9UPP2-2	IQEC3_HUMAN;.	L	1015;1015;712	ENSP00000437554:S1015L;ENSP00000315662:S1015L;ENSP00000372292:S712L	ENSP00000315662:S1015L	S	+	2	0	IQSEC3	148512	0.806000	0.28996	0.575000	0.28536	0.961000	0.63080	1.380000	0.34351	0.726000	0.32339	0.655000	0.94253	TCA		0.642	IQSEC3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397382.3	XM_495902		32	64	0	0	0	0	32	64				
VWF	7450	broad.mit.edu	37	12	6103292	6103292	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr12:6103292G>A	ENST00000261405.5	-	37	6588	c.6334C>T	c.(6334-6336)Cag>Tag	p.Q2112*		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	2112	VWFD 4. {ECO:0000255|PROSITE- ProRule:PRU00580}.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|extracellular matrix organization (GO:0030198)|hemostasis (GO:0007599)|liver development (GO:0001889)|placenta development (GO:0001890)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homooligomerization (GO:0051260)|response to wounding (GO:0009611)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)|Weibel-Palade body (GO:0033093)	chaperone binding (GO:0051087)|collagen binding (GO:0005518)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|immunoglobulin binding (GO:0019865)|integrin binding (GO:0005178)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	GTCCATTCCTGAACAAGTGTT	0.542																																						uc001qnn.1		NA																	0				skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|breast(1)	12						c.(6334-6336)CAG>TAG		von Willebrand factor preproprotein	Antihemophilic Factor(DB00025)						94.0	79.0	84.0					12																	6103292		2203	4300	6503	SO:0001587	stop_gained	7450				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding	g.chr12:6103292G>A		CCDS8539.1	12p13.3	2014-09-17			ENSG00000110799	ENSG00000110799		"""Endogenous ligands"""	12726	protein-coding gene	gene with protein product		613160		F8VWF		2251280	Standard	NM_000552		Approved		uc001qnn.1	P04275	OTTHUMG00000168265	ENST00000261405.5:c.6334C>T	12.37:g.6103292G>A	ENSP00000261405:p.Gln2112*					VWF_uc010set.1_Intron	p.Q2112*	NM_000552	NP_000543	P04275	VWF_HUMAN			37	6584	-			2112			VWFD 4.		Q8TCE8|Q99806	Nonsense_Mutation	SNP	ENST00000261405.5	37	c.6334C>T	CCDS8539.1	.	.	.	.	.	.	.	.	.	.	G	47	13.482645	0.99745	.	.	ENSG00000110799	ENST00000261405	.	.	.	5.17	5.17	0.71159	.	0.000000	0.42172	D	0.000748	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.22109	T	0.4	.	12.7458	0.57280	0.0:0.0:0.8361:0.1639	.	.	.	.	X	2112	.	ENSP00000261405:Q2112X	Q	-	1	0	VWF	5973553	1.000000	0.71417	0.998000	0.56505	0.862000	0.49288	3.366000	0.52343	2.413000	0.81919	0.561000	0.74099	CAG		0.542	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399020.1	NM_000552		12	51	0	0	0	0	12	51				
VWF	7450	broad.mit.edu	37	12	6103365	6103365	+	Silent	SNP	G	G	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr12:6103365G>T	ENST00000261405.5	-	37	6515	c.6261C>A	c.(6259-6261)atC>atA	p.I2087I		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	2087	VWFD 4. {ECO:0000255|PROSITE- ProRule:PRU00580}.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|extracellular matrix organization (GO:0030198)|hemostasis (GO:0007599)|liver development (GO:0001889)|placenta development (GO:0001890)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homooligomerization (GO:0051260)|response to wounding (GO:0009611)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)|Weibel-Palade body (GO:0033093)	chaperone binding (GO:0051087)|collagen binding (GO:0005518)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|immunoglobulin binding (GO:0019865)|integrin binding (GO:0005178)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	TCTCATCACAGATCCCTAGAG	0.478																																						uc001qnn.1		NA																	0				skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|breast(1)	12						c.(6259-6261)ATC>ATA		von Willebrand factor preproprotein	Antihemophilic Factor(DB00025)						77.0	66.0	70.0					12																	6103365		2203	4300	6503	SO:0001819	synonymous_variant	7450				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding	g.chr12:6103365G>T		CCDS8539.1	12p13.3	2014-09-17			ENSG00000110799	ENSG00000110799		"""Endogenous ligands"""	12726	protein-coding gene	gene with protein product		613160		F8VWF		2251280	Standard	NM_000552		Approved		uc001qnn.1	P04275	OTTHUMG00000168265	ENST00000261405.5:c.6261C>A	12.37:g.6103365G>T						VWF_uc010set.1_Intron	p.I2087I	NM_000552	NP_000543	P04275	VWF_HUMAN			37	6511	-			2087			VWFD 4.		Q8TCE8|Q99806	Silent	SNP	ENST00000261405.5	37	c.6261C>A	CCDS8539.1																																																																																				0.478	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399020.1	NM_000552		14	42	1	0	2.62e-11	2.78e-11	14	42				
SCNN1A	6337	broad.mit.edu	37	12	6457124	6457124	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr12:6457124G>A	ENST00000228916.2	-	13	2023	c.1925C>T	c.(1924-1926)cCt>cTt	p.P642L	SCNN1A_ENST00000543768.1_Missense_Mutation_p.P665L|SCNN1A_ENST00000396966.2_3'UTR|SCNN1A_ENST00000358945.3_Missense_Mutation_p.P664L|SCNN1A_ENST00000360168.3_Missense_Mutation_p.P701L|SCNN1A_ENST00000540037.1_Missense_Mutation_p.P342L	NM_001038.5	NP_001029.1	P37088	SCNNA_HUMAN	sodium channel, non-voltage-gated 1 alpha subunit	642					excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|multicellular organismal water homeostasis (GO:0050891)|response to stimulus (GO:0050896)|sensory perception of taste (GO:0050909)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|ciliary membrane (GO:0060170)|cortical actin cytoskeleton (GO:0030864)|cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)	ligand-gated sodium channel activity (GO:0015280)|WW domain binding (GO:0050699)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(2)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	27					Amiloride(DB00594)|Triamterene(DB00384)	ggcataggcagggggaggggc	0.687																																						uc001qnx.2		NA																	0					0						c.(1924-1926)CCT>CTT		sodium channel, nonvoltage-gated 1 alpha isoform	Amiloride(DB00594)|Triamterene(DB00384)						7.0	7.0	7.0					12																	6457124		2118	4198	6316	SO:0001583	missense	6337				excretion|response to stimulus|sensory perception of taste	apical plasma membrane	WW domain binding	g.chr12:6457124G>A	Z92978	CCDS8543.1, CCDS53738.1, CCDS53739.1	12p13	2012-02-28	2012-02-28		ENSG00000111319	ENSG00000111319		"""Ion channels / Sodium channel, nonvoltage-gated"", ""Sodium channels"""	10599	protein-coding gene	gene with protein product		600228	"""sodium channel, nonvoltage-gated 1 alpha"", ""sodium channel, non-voltage-gated 1 alpha"""	SCNN1		7896277	Standard	NM_001038		Approved	ENaCalpha	uc001qnw.3	P37088	OTTHUMG00000168268	ENST00000228916.2:c.1925C>T	12.37:g.6457124G>A	ENSP00000228916:p.Pro642Leu					SCNN1A_uc001qnv.2_Missense_Mutation_p.P342L|SCNN1A_uc001qnw.2_Missense_Mutation_p.P701L|SCNN1A_uc010sfb.1_Missense_Mutation_p.P665L	p.P642L	NM_001038	NP_001029	P37088	SCNNA_HUMAN			13	2214	-			642			Cytoplasmic (By similarity).		A5X2U9|B4E2Q5|C5HTZ0|O43271|Q6GSQ6|Q9UM64	Missense_Mutation	SNP	ENST00000228916.2	37	c.1925C>T	CCDS8543.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.554760	0.86231	.	.	ENSG00000111319	ENST00000360168;ENST00000358945;ENST00000540037;ENST00000228916;ENST00000543768	D;D;T;D;D	0.82711	-1.64;-1.62;-1.08;-1.54;-1.58	4.8	4.8	0.61643	.	0.000000	0.56097	D	0.000025	D	0.90438	0.7006	M	0.73598	2.24	0.58432	D	0.999993	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.996;0.996;0.998	D	0.91728	0.5394	10	0.87932	D	0	-12.5313	15.3479	0.74355	0.0:0.0:1.0:0.0	.	665;642;701	B4E2Q5;P37088;P37088-2	.;SCNNA_HUMAN;.	L	701;664;342;642;665	ENSP00000353292:P701L;ENSP00000351825:P664L;ENSP00000440876:P342L;ENSP00000228916:P642L;ENSP00000438739:P665L	ENSP00000228916:P642L	P	-	2	0	SCNN1A	6327385	1.000000	0.71417	0.997000	0.53966	0.927000	0.56198	5.189000	0.65098	2.223000	0.72356	0.555000	0.69702	CCT		0.687	SCNN1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399055.1			4	9	0	0	0	0	4	9				
LAG3	3902	broad.mit.edu	37	12	6887472	6887472	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr12:6887472G>C	ENST00000203629.2	+	8	1827	c.1494G>C	c.(1492-1494)aaG>aaC	p.K498N		NM_002286.5	NP_002277.4	P18627	LAG3_HUMAN	lymphocyte-activation gene 3	498					cell surface receptor signaling pathway (GO:0007166)|negative regulation of interleukin-2 biosynthetic process (GO:0045085)|negative regulation of T cell activation (GO:0050868)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)	antigen binding (GO:0003823)|MHC class II protein binding (GO:0042289)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						CTCAGAGCAAGATAGAGGAGC	0.632																																						uc001qqt.3		NA																	0					0						c.(1492-1494)AAG>AAC		lymphocyte-activation protein 3 precursor							25.0	30.0	28.0					12																	6887472		2201	4297	6498	SO:0001583	missense	3902					integral to membrane	antigen binding|MHC class II protein binding	g.chr12:6887472G>C		CCDS8561.1	12p13.3	2013-01-11			ENSG00000089692	ENSG00000089692		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6476	protein-coding gene	gene with protein product		153337					Standard	NM_002286		Approved	CD223	uc001qqt.4	P18627	OTTHUMG00000169197	ENST00000203629.2:c.1494G>C	12.37:g.6887472G>C	ENSP00000203629:p.Lys498Asn					LAG3_uc001qqu.2_3'UTR	p.K498N	NM_002286	NP_002277	P18627	LAG3_HUMAN			8	1843	+			498			Cytoplasmic (Potential).		A8K7T9|Q7Z643	Missense_Mutation	SNP	ENST00000203629.2	37	c.1494G>C	CCDS8561.1	.	.	.	.	.	.	.	.	.	.	G	15.84	2.952880	0.53293	.	.	ENSG00000089692	ENST00000203629	T	0.14516	2.5	4.74	2.88	0.33553	.	0.122950	0.38663	N	0.001609	T	0.27832	0.0685	M	0.67953	2.075	0.27419	N	0.954344	D	0.76494	0.999	D	0.64042	0.921	T	0.02484	-1.1152	10	0.72032	D	0.01	-27.8367	7.3641	0.26762	0.2036:0.0:0.7964:0.0	.	498	P18627	LAG3_HUMAN	N	498	ENSP00000203629:K498N	ENSP00000203629:K498N	K	+	3	2	LAG3	6757733	0.158000	0.22850	0.959000	0.39883	0.510000	0.34073	0.091000	0.15046	1.236000	0.43740	0.455000	0.32223	AAG		0.632	LAG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402846.1			11	28	0	0	0	0	11	28				
APOLD1	81575	broad.mit.edu	37	12	12940238	12940238	+	Silent	SNP	G	G	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr12:12940238G>A	ENST00000326765.6	+	2	562	c.492G>A	c.(490-492)gaG>gaA	p.E164E	APOLD1_ENST00000356591.4_Silent_p.E133E	NM_001130415.1	NP_001123887.1	Q96LR9	APLD1_HUMAN	apolipoprotein L domain containing 1	164					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|endothelial cell activation (GO:0042118)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|regulation of endothelial cell differentiation (GO:0045601)|response to hypoxia (GO:0001666)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)			breast(1)|endometrium(1)|large_intestine(1)|lung(1)|ovary(1)	5		Prostate(47;0.0632)		BRCA - Breast invasive adenocarcinoma(232;0.0338)|GBM - Glioblastoma multiforme(207;0.149)		AGATGCGAGAGATCCTGAGCT	0.642																																						uc001rau.3		NA																	0				ovary(1)	1						c.(490-492)GAG>GAA		apolipoprotein L domain containing 1 isoform 1							72.0	80.0	77.0					12																	12940238		2203	4300	6503	SO:0001819	synonymous_variant	81575				angiogenesis|cell differentiation|lipid transport|lipoprotein metabolic process	extracellular region|integral to membrane|plasma membrane	lipid binding	g.chr12:12940238G>A	AL136783	CCDS8654.1, CCDS44833.1	12p13.2	2006-02-03	2006-01-23		ENSG00000178878	ENSG00000178878			25268	protein-coding gene	gene with protein product		612456				11230166	Standard	NM_030817		Approved	FLJ25138, DKFZP434F0318	uc001rau.4	Q96LR9	OTTHUMG00000153561	ENST00000326765.6:c.492G>A	12.37:g.12940238G>A						DDX47_uc001rav.2_Intron|APOLD1_uc001raw.3_Silent_p.E133E	p.E164E	NM_001130415	NP_001123887	Q96LR9	APLD1_HUMAN		BRCA - Breast invasive adenocarcinoma(232;0.0338)|GBM - Glioblastoma multiforme(207;0.149)	2	576	+		Prostate(47;0.0632)	164					Q8IVR2|Q9H0I5	Silent	SNP	ENST00000326765.6	37	c.492G>A	CCDS44833.1																																																																																				0.642	APOLD1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000331627.1	NM_030817		40	99	0	0	0	0	40	99				
GSG1	83445	broad.mit.edu	37	12	13243458	13243458	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr12:13243458C>T	ENST00000432710.2	-	2	475	c.343G>A	c.(343-345)Gag>Aag	p.E115K	GSG1_ENST00000396310.2_Missense_Mutation_p.E99K|GSG1_ENST00000537302.1_Missense_Mutation_p.E102K|GSG1_ENST00000396302.3_Missense_Mutation_p.E102K|GSG1_ENST00000337630.6_Missense_Mutation_p.E102K|GSG1_ENST00000324458.8_Missense_Mutation_p.E115K|GSG1_ENST00000457134.2_Missense_Mutation_p.E102K|GSG1_ENST00000351606.6_Missense_Mutation_p.E115K	NM_001206842.1	NP_001193771.1	Q2KHT4	GSG1_HUMAN	germ cell associated 1	102						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(1)	10		Prostate(47;0.183)		BRCA - Breast invasive adenocarcinoma(232;0.15)		ACAGTTTCCTCACAGGATAGC	0.542																																						uc001rbn.2		NA																	0					0						c.(343-345)GAG>AAG		germ cell associated 1 isoform 4							61.0	60.0	61.0					12																	13243458		2203	4300	6503	SO:0001583	missense	83445					endoplasmic reticulum membrane|integral to membrane		g.chr12:13243458C>T	BC001796	CCDS8659.2, CCDS44835.1, CCDS44836.1, CCDS55806.1, CCDS55807.1, CCDS55808.1	12p13.31	2007-12-03			ENSG00000111305	ENSG00000111305			19716	protein-coding gene	gene with protein product							Standard	NM_031289		Approved	MGC3146	uc001rbn.3	Q2KHT4	OTTHUMG00000150148	ENST00000432710.2:c.343G>A	12.37:g.13243458C>T	ENSP00000405032:p.Glu115Lys					GSG1_uc001rbj.2_Missense_Mutation_p.E102K|GSG1_uc001rbk.2_Missense_Mutation_p.E102K|GSG1_uc001rbl.2_Missense_Mutation_p.E102K|GSG1_uc001rbm.2_Missense_Mutation_p.E102K|GSG1_uc001rbo.2_Missense_Mutation_p.E115K|GSG1_uc001rbp.2_Missense_Mutation_p.E115K|GSG1_uc001rbq.1_Missense_Mutation_p.E115K	p.E115K	NM_001080555	NP_001074024	Q2KHT4	GSG1_HUMAN		BRCA - Breast invasive adenocarcinoma(232;0.15)	2	516	-		Prostate(47;0.183)	102					Q8N4M3|Q8NBR4|Q8NBS0|Q8NBT1|Q96LP9|Q96SI6|Q9BUY4	Missense_Mutation	SNP	ENST00000432710.2	37	c.343G>A	CCDS55808.1	.	.	.	.	.	.	.	.	.	.	C	34	5.353884	0.95830	.	.	ENSG00000111305	ENST00000337630;ENST00000324458;ENST00000396310;ENST00000396302;ENST00000457134;ENST00000432710;ENST00000537302;ENST00000351606;ENST00000405543;ENST00000545401;ENST00000542415;ENST00000545699	T;T;T;T;T;T;T;T;T;T;T	0.51574	0.7;0.7;0.7;0.7;0.7;0.7;0.7;0.7;0.7;0.7;0.7	5.24	5.24	0.73138	.	0.187622	0.44902	D	0.000417	T	0.74152	0.3679	M	0.87758	2.905	0.44268	D	0.997125	D;D;D;D;P;D;D;D	0.76494	0.999;0.99;0.997;0.996;0.94;0.971;0.999;0.996	D;P;D;D;P;P;D;D	0.83275	0.996;0.851;0.979;0.976;0.62;0.775;0.984;0.967	T	0.78597	-0.2142	10	0.59425	D	0.04	.	18.8268	0.92122	0.0:1.0:0.0:0.0	.	115;115;115;102;102;102;102;102	Q2KHT4-7;Q2KHT4-6;G3XAB9;Q2KHT4;Q2KHT4-5;Q2KHT4-2;F1T0A0;F1T0A1	.;.;.;GSG1_HUMAN;.;.;.;.	K	102;115;99;102;102;115;102;115;99;115;115;102	ENSP00000336816:E102K;ENSP00000320838:E115K;ENSP00000379604:E99K;ENSP00000379596:E102K;ENSP00000398384:E102K;ENSP00000405032:E115K;ENSP00000441718:E102K;ENSP00000336857:E115K;ENSP00000445884:E115K;ENSP00000439676:E115K;ENSP00000440684:E102K	ENSP00000320838:E115K	E	-	1	0	GSG1	13134725	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	7.482000	0.81143	2.440000	0.82611	0.561000	0.74099	GAG		0.542	GSG1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316546.1	NM_031289		21	53	0	0	0	0	21	53				
SPX	80763	broad.mit.edu	37	12	21680692	21680692	+	Silent	SNP	G	G	C			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr12:21680692G>C	ENST00000256969.2	+	4	343	c.177G>C	c.(175-177)cgG>cgC	p.R59R		NM_030572.2	NP_085049.1	Q9BT56	SPXN_HUMAN		59					long-chain fatty acid import (GO:0044539)|negative regulation of appetite (GO:0032099)|negative regulation of heart rate (GO:0010459)|negative regulation of renal sodium excretion (GO:0035814)|positive regulation of systemic arterial blood pressure (GO:0003084)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of sensory perception of pain (GO:0051930)	cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)	neuropeptide hormone activity (GO:0005184)|type 2 galanin receptor binding (GO:0031765)|type 3 galanin receptor binding (GO:0031766)			endometrium(3)|large_intestine(1)|lung(2)|urinary_tract(1)	7						ACCAGAGCCGGAGAAAGGACC	0.647																																						uc001rfa.1		NA																	0					0						c.(175-177)CGG>CGC		spexin precursor							20.0	21.0	21.0					12																	21680692		2195	4272	6467	SO:0001819	synonymous_variant	80763					extracellular region|nucleus|transport vesicle		g.chr12:21680692G>C																												ENST00000256969.2:c.177G>C	12.37:g.21680692G>C						C12orf39_uc009ziv.1_RNA|C12orf39_uc009ziw.1_5'Flank	p.R59R	NM_030572	NP_085049	Q9BT56	SPXN_HUMAN			4	328	+			59					B3KND6	Silent	SNP	ENST00000256969.2	37	c.177G>C	CCDS31757.1																																																																																				0.647	C12orf39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402389.1			4	10	0	0	0	0	4	10				
PRPF40B	25766	broad.mit.edu	37	12	50029224	50029224	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr12:50029224G>A	ENST00000380281.1	+	13	1241	c.1177G>A	c.(1177-1179)Gat>Aat	p.D393N	FMNL3_ENST00000550668.1_5'Flank|PRPF40B_ENST00000548825.2_Missense_Mutation_p.D415N|PRPF40B_ENST00000261897.1_Missense_Mutation_p.D387N			Q6NWY9	PR40B_HUMAN	PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae)	393	FF 2.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34						GGTTTATGATGATGTCCTCTT	0.512																																						uc001rur.1		NA																	0				skin(2)|ovary(1)|pancreas(1)|kidney(1)	5						c.(1177-1179)GAT>AAT		Huntingtin interacting protein C isoform 1							132.0	125.0	127.0					12																	50029224		2203	4300	6503	SO:0001583	missense	25766				mRNA processing|RNA splicing	nuclear speck		g.chr12:50029224G>A	AF049525	CCDS31796.1, CCDS31796.2	12q13.12	2014-09-17	2006-04-04			ENSG00000110844			25031	protein-coding gene	gene with protein product	"""Huntingtin interacting protein C"""		"""PRP40 pre-mRNA processing factor 40 homolog B (yeast)"""			9700202	Standard	NM_001031698		Approved	HYPC	uc001rus.2	Q6NWY9		ENST00000380281.1:c.1177G>A	12.37:g.50029224G>A	ENSP00000369634:p.Asp393Asn					PRPF40B_uc001rup.1_Missense_Mutation_p.D415N|PRPF40B_uc001ruq.1_Missense_Mutation_p.D387N|PRPF40B_uc001rus.1_Missense_Mutation_p.D336N	p.D393N	NM_001031698	NP_001026868	Q6NWY9	PR40B_HUMAN			13	1241	+			393					O75401|Q6PI09|Q6ZWB3|Q8NCZ1|Q9H5G4|Q9NT95	Missense_Mutation	SNP	ENST00000380281.1	37	c.1177G>A		.	.	.	.	.	.	.	.	.	.	G	35	5.431675	0.96150	.	.	ENSG00000110844	ENST00000261897;ENST00000380281	T;T	0.28069	1.63;1.63	5.0	5.0	0.66597	FF domain (1);	0.000000	0.64402	D	0.000006	T	0.52451	0.1735	L	0.56769	1.78	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.99;0.996;0.999	T	0.43180	-0.9407	9	.	.	.	-15.0021	17.599	0.88021	0.0:0.0:1.0:0.0	.	393;387;393	Q6NWY9;Q6NWY9-2;Q6NWY9-3	PR40B_HUMAN;.;.	N	387;393	ENSP00000261897:D387N;ENSP00000369634:D393N	.	D	+	1	0	PRPF40B	48315491	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.388000	0.97237	2.775000	0.95449	0.563000	0.77884	GAT		0.512	PRPF40B-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000404838.1	NM_012272		46	154	0	0	0	0	46	154				
BIN2	51411	broad.mit.edu	37	12	51685669	51685669	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr12:51685669G>C	ENST00000267012.4	-	10	1282	c.1221C>G	c.(1219-1221)atC>atG	p.I407M	BIN2_ENST00000544402.1_Missense_Mutation_p.I381M|BIN2_ENST00000604560.1_Missense_Mutation_p.I380M|BIN2_ENST00000452142.2_Missense_Mutation_p.I375M	NM_016293.2	NP_057377.2	Q9UBW5	BIN2_HUMAN	bridging integrator 2	407					cell chemotaxis (GO:0060326)|membrane tubulation (GO:0097320)|phagocytosis, engulfment (GO:0006911)|podosome assembly (GO:0071800)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|podosome (GO:0002102)	phospholipid binding (GO:0005543)			NS(2)|breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(3)	31						AGGTCCTCTGGATAGAGGCTC	0.587																																						uc001ryg.2		NA																	0				ovary(1)	1						c.(1219-1221)ATC>ATG		bridging integrator 2							81.0	77.0	78.0					12																	51685669		2203	4300	6503	SO:0001583	missense	51411					cytoplasm	protein binding	g.chr12:51685669G>C	AF146531	CCDS8811.1	12q13.13	2012-01-23			ENSG00000110934	ENSG00000110934			1053	protein-coding gene	gene with protein product		605936				10903846	Standard	XM_005268957		Approved	BRAP-1	uc001ryg.3	Q9UBW5		ENST00000267012.4:c.1221C>G	12.37:g.51685669G>C	ENSP00000267012:p.Ile407Met					BIN2_uc009zlz.2_Missense_Mutation_p.I375M|BIN2_uc001ryh.2_Missense_Mutation_p.I283M|BIN2_uc010sng.1_Missense_Mutation_p.I381M	p.I407M	NM_016293	NP_057377	Q9UBW5	BIN2_HUMAN			10	1273	-			407					Q86VV0|Q9NWK4|Q9UKN4	Missense_Mutation	SNP	ENST00000267012.4	37	c.1221C>G	CCDS8811.1	.	.	.	.	.	.	.	.	.	.	G	8.536	0.872049	0.17322	.	.	ENSG00000110934	ENST00000452142;ENST00000267012;ENST00000544402	D;T;T	0.96745	-4.11;-0.18;-0.24	4.46	0.481	0.16809	.	2.363010	0.01299	N	0.010257	D	0.91646	0.7360	L	0.29908	0.895	0.09310	N	1	B;B;P	0.34780	0.374;0.372;0.468	B;B;B	0.30495	0.116;0.082;0.054	D	0.85118	0.0967	10	0.33940	T	0.23	-0.5905	4.0311	0.09710	0.3041:0.1911:0.5048:0.0	.	381;375;407	F5H0W4;Q9UBW5-2;Q9UBW5	.;.;BIN2_HUMAN	M	375;407;381	ENSP00000410217:I375M;ENSP00000267012:I407M;ENSP00000445874:I381M	ENSP00000267012:I407M	I	-	3	3	BIN2	49971936	0.006000	0.16342	0.570000	0.28473	0.616000	0.37450	0.176000	0.16782	0.225000	0.20959	0.655000	0.94253	ATC		0.587	BIN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000469800.1			29	93	0	0	0	0	29	93				
KRT2	3849	broad.mit.edu	37	12	53045411	53045411	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr12:53045411C>G	ENST00000309680.3	-	1	537	c.516G>C	c.(514-516)caG>caC	p.Q172H		NM_000423.2	NP_000414.2	P35908	K22E_HUMAN	keratin 2	172	Head.				epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte activation (GO:0032980)|keratinocyte migration (GO:0051546)|keratinocyte proliferation (GO:0043616)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|keratin filament (GO:0045095)|membrane (GO:0016020)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(18)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32				BRCA - Breast invasive adenocarcinoma(357;0.19)		CCTTCACATTCTGGATCTCTG	0.527																																						uc001sat.2		NA																	0				ovary(2)	2						c.(514-516)CAG>CAC		keratin 2							146.0	141.0	143.0					12																	53045411		2203	4300	6503	SO:0001583	missense	3849				keratinization|keratinocyte activation|keratinocyte migration|keratinocyte proliferation	Golgi apparatus|keratin filament	protein binding|structural constituent of cytoskeleton	g.chr12:53045411C>G		CCDS8835.1	12q13.13	2013-01-16	2008-08-01	2006-07-17	ENSG00000172867	ENSG00000172867		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6439	protein-coding gene	gene with protein product	"""epidermal ichthyosis bullosa of Siemens"""	600194	"""keratin 2A (epidermal ichthyosis bullosa of Siemens)"""	KRT2A		7524919, 16831889	Standard	NM_000423		Approved	KRTE	uc001sat.3	P35908	OTTHUMG00000169748	ENST00000309680.3:c.516G>C	12.37:g.53045411C>G	ENSP00000310861:p.Gln172His						p.Q172H	NM_000423	NP_000414	P35908	K22E_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.19)	1	549	-			172			Head.		Q4VAQ2	Missense_Mutation	SNP	ENST00000309680.3	37	c.516G>C	CCDS8835.1	.	.	.	.	.	.	.	.	.	.	C	14.02	2.410967	0.42817	.	.	ENSG00000172867	ENST00000309680	T	0.78126	-1.15	5.54	4.65	0.58169	.	.	.	.	.	D	0.88040	0.6330	H	0.95402	3.665	0.35211	D	0.775162	P	0.43973	0.823	P	0.48089	0.566	D	0.94332	0.7563	9	0.87932	D	0	.	16.1695	0.81793	0.1343:0.8657:0.0:0.0	.	172	P35908	K22E_HUMAN	H	172	ENSP00000310861:Q172H	ENSP00000310861:Q172H	Q	-	3	2	KRT2	51331678	0.998000	0.40836	0.993000	0.49108	0.271000	0.26615	3.958000	0.56737	1.481000	0.48307	0.655000	0.94253	CAG		0.527	KRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405704.1	NM_000423		41	136	0	0	0	0	41	136				
HNRNPA1	3178	broad.mit.edu	37	12	54675943	54675943	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr12:54675943G>A	ENST00000340913.6	+	4	402	c.349G>A	c.(349-351)Gaa>Aaa	p.E117K	HNRNPA1_ENST00000547276.1_Missense_Mutation_p.E117K|HNRNPA1_ENST00000330752.8_Missense_Mutation_p.E117K|HNRNPA1_ENST00000546500.1_Missense_Mutation_p.E117K|CBX5_ENST00000209875.4_5'Flank|RP11-968A15.8_ENST00000553061.1_RNA	NM_002136.2|NM_031157.2	NP_002127.1|NP_112420.1	P09651	ROA1_HUMAN	heterogeneous nuclear ribonucleoprotein A1	117	Globular B domain.|RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cell death (GO:0008219)|gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|mRNA transport (GO:0051028)|nuclear export (GO:0051168)|nuclear import (GO:0051170)|RNA export from nucleus (GO:0006405)|RNA splicing (GO:0008380)|viral process (GO:0016032)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)|single-stranded RNA binding (GO:0003727)			endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	20						AGAAGACACTGAAGAACATCA	0.378																																					Colon(83;502 1289 8436 16406 24870)	uc001sfl.2		NA																	0				skin(2)|ovary(1)	3						c.(349-351)GAA>AAA		heterogeneous nuclear ribonucleoprotein A1							43.0	40.0	41.0					12																	54675943		1863	4096	5959	SO:0001583	missense	3178				interspecies interaction between organisms|mRNA transport|nuclear import	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm	nucleotide binding|protein binding|single-stranded DNA binding	g.chr12:54675943G>A	BC009600	CCDS41793.1, CCDS44909.1	12q13.1	2013-10-11		2007-08-16	ENSG00000135486	ENSG00000135486		"""RNA binding motif (RRM) containing"""	5031	protein-coding gene	gene with protein product		164017		HNRPA1		1733858	Standard	XR_245923		Approved	hnRNPA1, hnRNP-A1	uc001sfl.3	P09651		ENST00000340913.6:c.349G>A	12.37:g.54675943G>A	ENSP00000341826:p.Glu117Lys					CBX5_uc001sfk.3_5'Flank|CBX5_uc001sfi.3_5'Flank|HNRNPA1_uc001sfm.2_Missense_Mutation_p.E117K|HNRNPA1_uc009zng.2_Missense_Mutation_p.E117K|HNRNPA1_uc009znh.2_Missense_Mutation_p.E117K|HNRNPA1_uc009zni.2_Missense_Mutation_p.E117K|HNRNPA1_uc001sfn.2_Missense_Mutation_p.E117K|HNRNPA1_uc001sfo.3_RNA|HNRNPA1_uc001sfp.1_Missense_Mutation_p.E72K|HNRNPA1_uc009znj.1_Missense_Mutation_p.E72K	p.E117K	NM_031157	NP_112420	P09651	ROA1_HUMAN			4	453	+			117			Globular B domain.|RRM 2.		A8K4Z8|Q3MIB7|Q6PJZ7	Missense_Mutation	SNP	ENST00000340913.6	37	c.349G>A	CCDS44909.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.611806	0.87258	.	.	ENSG00000135486	ENST00000546500;ENST00000547617;ENST00000552494;ENST00000340913;ENST00000330752;ENST00000552591;ENST00000551702;ENST00000551133;ENST00000547276;ENST00000548688;ENST00000550994	T;T;T;T;T;T;T	0.74002	-0.8;-0.8;-0.8;-0.8;-0.8;-0.8;2.4	4.01	4.01	0.46588	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.216004	0.30101	N	0.010404	T	0.73799	0.3633	L	0.28504	0.86	0.58432	D	0.999996	P;P;P;P;B;P;P;D	0.56035	0.948;0.835;0.936;0.912;0.309;0.537;0.936;0.974	P;P;P;P;B;P;P;P	0.55055	0.767;0.656;0.656;0.723;0.278;0.627;0.656;0.767	T	0.76669	-0.2874	10	0.54805	T	0.06	.	14.4517	0.67389	0.0:0.0:1.0:0.0	.	95;117;117;117;117;117;117;117	Q9BSM5;F8VRQ1;F8W6I7;F8VSB5;F8VXY0;P09651-3;P09651-2;P09651	.;.;.;.;.;.;.;ROA1_HUMAN	K	117;117;117;117;117;117;68;117;117;136;72	ENSP00000448617:E117K;ENSP00000341826:E117K;ENSP00000333504:E117K;ENSP00000448117:E68K;ENSP00000447260:E117K;ENSP00000447782:E136K;ENSP00000448917:E72K	ENSP00000333504:E117K	E	+	1	0	HNRNPA1	52962210	1.000000	0.71417	1.000000	0.80357	0.816000	0.46133	9.857000	0.99534	2.194000	0.70268	0.297000	0.19635	GAA		0.378	HNRNPA1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000405480.1	NM_031157		16	38	0	0	0	0	16	38				
COQ10A	93058	broad.mit.edu	37	12	56664084	56664084	+	Missense_Mutation	SNP	G	G	C	rs373256704		TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr12:56664084G>C	ENST00000308197.5	+	5	988	c.727G>C	c.(727-729)Gag>Cag	p.E243Q	COQ10A_ENST00000546544.1_Missense_Mutation_p.E226Q|COQ10A_ENST00000433805.2_Missense_Mutation_p.E211Q|RP11-977G19.14_ENST00000546464.1_RNA	NM_144576.3	NP_653177.3	Q96MF6	CQ10A_HUMAN	coenzyme Q10 homolog A (S. cerevisiae)	243						mitochondrial inner membrane (GO:0005743)				cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)	8						GATGTTCCATGAGGTGCACCA	0.498																																						uc001sko.3		NA																	0				ovary(1)	1						c.(727-729)GAG>CAG		coenzyme Q10 homolog A isoform a							101.0	101.0	101.0					12																	56664084		1994	4175	6169	SO:0001583	missense	93058					mitochondrial inner membrane		g.chr12:56664084G>C	AK057003	CCDS41796.1, CCDS44921.1	12q13.3	2011-09-16	2006-04-04		ENSG00000135469	ENSG00000135469			26515	protein-coding gene	gene with protein product			"""coenzyme Q10 homolog A (yeast)"""				Standard	NM_144576		Approved	FLJ32452	uc001sko.4	Q96MF6	OTTHUMG00000170283	ENST00000308197.5:c.727G>C	12.37:g.56664084G>C	ENSP00000312587:p.Glu243Gln					COQ10A_uc001skp.3_Missense_Mutation_p.E211Q|COQ10A_uc001skq.3_Missense_Mutation_p.E226Q	p.E243Q	NM_144576	NP_653177	Q96MF6	CQ10A_HUMAN			5	988	+			243					Q6GMR6|Q6UWB9|Q86X16|Q8TAL2|Q96MF1|Q9BUP4	Missense_Mutation	SNP	ENST00000308197.5	37	c.727G>C	CCDS41796.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.72|15.72	2.917565|2.917565	0.52546|0.52546	.|.	.|.	ENSG00000135469|ENSG00000135469	ENST00000308197;ENST00000433805;ENST00000546544|ENST00000553234;ENST00000551814	T;T;T|.	0.28895|.	1.59;1.71;1.66|.	4.85|4.85	4.85|4.85	0.62838|0.62838	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.66723|0.66723	0.2818|0.2818	L|L	0.44542|0.44542	1.39|1.39	0.80722|0.80722	D|D	1|1	P;P;P|.	0.37663|.	0.565;0.604;0.454|.	B;B;B|.	0.38880|.	0.284;0.093;0.243|.	T|T	0.62789|0.62789	-0.6780|-0.6780	10|5	0.56958|.	D|.	0.05|.	.|.	17.2662|17.2662	0.87087|0.87087	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	226;248;243|.	Q96MF6-2;Q8TAL2;Q96MF6|.	.;.;CQ10A_HUMAN|.	Q|I	243;211;226|148;59	ENSP00000312587:E243Q;ENSP00000407843:E211Q;ENSP00000446723:E226Q|.	ENSP00000312587:E243Q|.	E|M	+|+	1|3	0|0	COQ10A|COQ10A	54950351|54950351	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.104000|0.104000	0.19210|0.19210	9.300000|9.300000	0.96151|0.96151	2.675000|2.675000	0.91044|0.91044	0.655000|0.655000	0.94253|0.94253	GAG|ATG		0.498	COQ10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408332.1	NM_144576		31	96	0	0	0	0	31	96				
MBD6	114785	broad.mit.edu	37	12	57919593	57919593	+	Missense_Mutation	SNP	A	A	C			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr12:57919593A>C	ENST00000355673.3	+	6	1198	c.842A>C	c.(841-843)cAc>cCc	p.H281P	MBD6_ENST00000431731.2_Missense_Mutation_p.H281P	NM_052897.3	NP_443129.3	Q96DN6	MBD6_HUMAN	methyl-CpG binding domain protein 6	281	Pro-rich.					chromocenter (GO:0010369)|nucleus (GO:0005634)	chromatin binding (GO:0003682)	p.H281P(3)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1)	31						CTCCCCGCCCACCCTGGTCCT	0.662																																						uc001soj.1		NA																	3	Substitution - Missense(3)		lung(2)|endometrium(1)	central_nervous_system(3)|ovary(1)	4						c.(841-843)CAC>CCC		methyl-CpG binding domain protein 6							36.0	46.0	43.0					12																	57919593		2199	4294	6493	SO:0001583	missense	114785					chromosome|nucleus	chromatin binding|DNA binding	g.chr12:57919593A>C	AB067474	CCDS8944.1	12q13.2	2008-02-05				ENSG00000166987			20445	protein-coding gene	gene with protein product						12529184	Standard	NM_052897		Approved	KIAA1887	uc001soj.1	Q96DN6		ENST00000355673.3:c.842A>C	12.37:g.57919593A>C	ENSP00000347896:p.His281Pro					MBD6_uc001sok.1_Missense_Mutation_p.H148P|MBD6_uc001sol.1_5'Flank	p.H281P	NM_052897	NP_443129	Q96DN6	MBD6_HUMAN			6	1066	+			281			Pro-rich.		Q8N3M0|Q8NA81|Q96Q00	Missense_Mutation	SNP	ENST00000355673.3	37	c.842A>C	CCDS8944.1	.	.	.	.	.	.	.	.	.	.	a	0.005	-2.137983	0.00335	.	.	ENSG00000166987	ENST00000355673;ENST00000431731	.	.	.	3.5	2.6	0.31112	.	0.479032	0.17493	N	0.172275	T	0.20577	0.0495	N	0.08118	0	0.26694	N	0.971305	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.17048	-1.0382	8	.	.	.	.	9.9288	0.41510	0.2149:0.7851:0.0:0.0	.	281;281	Q6P0P0;Q96DN6	.;MBD6_HUMAN	P	281	.	.	H	+	2	0	MBD6	56205860	0.123000	0.22298	0.977000	0.42913	0.405000	0.30901	1.709000	0.37909	1.013000	0.39391	-0.426000	0.05927	CAC		0.662	MBD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407250.1			6	105	0	0	0	0	6	105				
DCTN2	10540	broad.mit.edu	37	12	57924487	57924487	+	Silent	SNP	C	C	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr12:57924487C>T	ENST00000548249.1	-	14	1458	c.1191G>A	c.(1189-1191)aaG>aaA	p.K397K	DCTN2_ENST00000543672.1_Silent_p.K402K|DCTN2_ENST00000537439.1_Silent_p.K374K|DCTN2_ENST00000434715.3_Silent_p.K402K	NM_001261412.1|NM_001261413.1	NP_001248341.1|NP_001248342.1	Q13561	DCTN2_HUMAN	dynactin 2 (p50)	397					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell proliferation (GO:0008283)|G2/M transition of mitotic cell cycle (GO:0000086)|melanosome transport (GO:0032402)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dynactin complex (GO:0005869)|dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|vesicle (GO:0031982)	motor activity (GO:0003774)|spectrin binding (GO:0030507)			endometrium(1)|large_intestine(4)|lung(2)|ovary(2)|upper_aerodigestive_tract(2)	11						TTCCCAGCTTCTTCATCCGTT	0.473																																						uc001som.1		NA																	0				ovary(1)	1						c.(1189-1191)AAG>AAA		dynactin 2							169.0	161.0	163.0					12																	57924487		1910	4146	6056	SO:0001819	synonymous_variant	10540				cell proliferation|G2/M transition of mitotic cell cycle|mitosis	centrosome|cytosol|dynactin complex|dynein complex|kinetochore|membrane|microtubule|vesicle	motor activity|protein binding	g.chr12:57924487C>T	U50733	CCDS44930.1, CCDS58245.1, CCDS73489.1	12q13.3	2008-05-14				ENSG00000175203			2712	protein-coding gene	gene with protein product		607376				8647893	Standard	NM_001261412		Approved	RBP50, DCTN-50	uc001som.2	Q13561	OTTHUMG00000170124	ENST00000548249.1:c.1191G>A	12.37:g.57924487C>T						DCTN2_uc009zpu.1_Silent_p.K402K|DCTN2_uc009zpv.1_Silent_p.K310K|DCTN2_uc009zpw.1_Silent_p.K310K|DCTN2_uc001soo.1_RNA|DCTN2_uc001son.1_Silent_p.K310K|DCTN2_uc001sop.1_Silent_p.K310K|DCTN2_uc001soq.1_RNA|DCTN2_uc009zpx.1_Silent_p.K373K	p.K397K	NM_006400	NP_006391	Q13561	DCTN2_HUMAN			14	1323	-			397			Potential.		B2RBK5|Q86YN2|Q9BW17	Silent	SNP	ENST00000548249.1	37	c.1191G>A	CCDS58245.1																																																																																				0.473	DCTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407393.2	NM_006400		11	143	0	0	0	0	11	143				
XPOT	11260	broad.mit.edu	37	12	64813889	64813889	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr12:64813889G>A	ENST00000332707.5	+	7	1058	c.529G>A	c.(529-531)Gaa>Aaa	p.E177K		NM_007235.4	NP_009166.2	O43592	XPOT_HUMAN	exportin, tRNA	177	Necessary for interaction with Ran, nuclear localization and nuclear import.				intracellular protein transport (GO:0006886)|tRNA export from nucleus (GO:0006409)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	tRNA binding (GO:0000049)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(7)|lung(12)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				GBM - Glioblastoma multiforme(28;0.0404)		TACCATGAGGGAACAGTGCAT	0.363																																						uc001ssb.2		NA																	0				ovary(2)	2						c.(529-531)GAA>AAA		tRNA exportin							93.0	93.0	93.0					12																	64813889		2203	4300	6503	SO:0001583	missense	11260				intracellular protein transport|tRNA export from nucleus	cytoplasm|nucleoplasm	protein transporter activity|tRNA binding	g.chr12:64813889G>A	AF039022	CCDS31852.1	12q14.1	2012-10-17	2012-10-17		ENSG00000184575	ENSG00000184575		"""Exportins"""	12826	protein-coding gene	gene with protein product		603180	"""exportin, tRNA (nuclear export receptor for tRNAs)"""			9660920, 9512417	Standard	NM_007235		Approved	XPO3	uc001ssb.3	O43592	OTTHUMG00000168794	ENST00000332707.5:c.529G>A	12.37:g.64813889G>A	ENSP00000327821:p.Glu177Lys					XPOT_uc009zqm.1_Missense_Mutation_p.E87K	p.E177K	NM_007235	NP_009166	O43592	XPOT_HUMAN		GBM - Glioblastoma multiforme(28;0.0404)	7	955	+			177			Necessary for interaction with Ran, nuclear localization and nuclear import.		A6NLH1|O43784|Q8WUG2|Q9BVS7	Missense_Mutation	SNP	ENST00000332707.5	37	c.529G>A	CCDS31852.1	.	.	.	.	.	.	.	.	.	.	G	36	5.612913	0.96637	.	.	ENSG00000184575	ENST00000332707;ENST00000400935	T;T	0.44482	0.92;0.92	4.79	4.79	0.61399	Exportin-1/Importin-beta-like (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.58352	0.2116	M	0.81682	2.555	0.80722	D	1	P	0.43231	0.801	P	0.49012	0.598	T	0.61554	-0.7039	9	.	.	.	.	18.7197	0.91688	0.0:0.0:1.0:0.0	.	177	O43592	XPOT_HUMAN	K	177	ENSP00000327821:E177K;ENSP00000383722:E177K	.	E	+	1	0	XPOT	63100156	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.655000	0.98512	2.593000	0.87608	0.655000	0.94253	GAA		0.363	XPOT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401122.1	NM_007235		23	46	0	0	0	0	23	46				
CAPS2	84698	broad.mit.edu	37	12	75692498	75692498	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr12:75692498C>T	ENST00000409445.3	-	12	1266	c.1070G>A	c.(1069-1071)gGa>gAa	p.G357E	CAPS2_ENST00000442339.2_Intron|CAPS2_ENST00000409004.1_5'UTR|CAPS2_ENST00000393284.3_Missense_Mutation_p.G125E|RP11-560G2.1_ENST00000534648.2_RNA|CAPS2_ENST00000409799.1_Missense_Mutation_p.G275E	NM_032606.3	NP_115995.2	Q9BXY5	CAYP2_HUMAN	calcyphosine 2	357							calcium ion binding (GO:0005509)			endometrium(2)|large_intestine(1)|lung(4)|ovary(2)|skin(1)	10						GTATTGTTTTCCTTTTCTTCG	0.353																																						uc001sxk.3		NA																	0				ovary(2)	2						c.(1069-1071)GGA>GAA		calcyphosine 2							151.0	148.0	149.0					12																	75692498		2203	4299	6502	SO:0001583	missense	84698						calcium ion binding	g.chr12:75692498C>T	AF251056	CCDS9008.2, CCDS66424.1, CCDS73497.1	12q14.1	2013-01-10	2005-05-09		ENSG00000180881	ENSG00000180881		"""EF-hand domain containing"""	16471	protein-coding gene	gene with protein product		607724	"""calcyphosphine 2"""			11846421	Standard	NM_032606		Approved		uc001sxk.4	Q9BXY5	OTTHUMG00000152787	ENST00000409445.3:c.1070G>A	12.37:g.75692498C>T	ENSP00000386959:p.Gly357Glu					CAPS2_uc001sxm.3_Missense_Mutation_p.G125E|CAPS2_uc009zsa.2_Intron|CAPS2_uc001sxi.3_Missense_Mutation_p.G93E|CAPS2_uc001sxj.3_Missense_Mutation_p.G268E|CAPS2_uc001sxl.3_Missense_Mutation_p.G338E	p.G357E	NM_032606	NP_115995	Q9BXY5	CAYP2_HUMAN			12	1267	-			357					Q6PH84|Q8N242|Q8NAY5	Missense_Mutation	SNP	ENST00000409445.3	37	c.1070G>A	CCDS9008.2	.	.	.	.	.	.	.	.	.	.	C	24.1	4.494265	0.85069	.	.	ENSG00000180881	ENST00000409799;ENST00000409445;ENST00000378703;ENST00000393284	T;T;T	0.38560	1.53;1.13;1.2	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	T	0.69602	0.3129	M	0.82517	2.595	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;0.999	T	0.73672	-0.3909	10	0.72032	D	0.01	-15.4025	19.3616	0.94442	0.0:1.0:0.0:0.0	.	125;93;357;275	Q9BXY5-2;Q9BXY5-3;Q9BXY5;B9A061	.;.;CAYP2_HUMAN;.	E	275;357;93;125	ENSP00000386977:G275E;ENSP00000386959:G357E;ENSP00000376963:G125E	ENSP00000367975:G93E	G	-	2	0	CAPS2	73978765	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.997000	0.57016	2.591000	0.87537	0.542000	0.68232	GGA		0.353	CAPS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000327880.2			13	50	0	0	0	0	13	50				
SYT1	6857	broad.mit.edu	37	12	79689973	79689973	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr12:79689973G>T	ENST00000261205.4	+	7	1256	c.599G>T	c.(598-600)cGa>cTa	p.R200L	SYT1_ENST00000393240.3_Missense_Mutation_p.R200L|SYT1_ENST00000552744.1_Missense_Mutation_p.R200L|SYT1_ENST00000457153.2_Missense_Mutation_p.R197L	NM_005639.2	NP_005630.1	P21579	SYT1_HUMAN	synaptotagmin I	200	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.|Phospholipid binding. {ECO:0000305}.				calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|detection of calcium ion (GO:0005513)|glutamate secretion (GO:0014047)|neurotransmitter secretion (GO:0007269)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|positive regulation of synaptic transmission (GO:0050806)|positive regulation of vesicle fusion (GO:0031340)|protein homooligomerization (GO:0051260)|regulation of exocytosis (GO:0017157)|regulation of regulated secretory pathway (GO:1903305)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)|vesicle docking (GO:0048278)	cell junction (GO:0030054)|clathrin-sculpted acetylcholine transport vesicle membrane (GO:0060201)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|clathrin-sculpted glutamate transport vesicle membrane (GO:0060203)|clathrin-sculpted monoamine transport vesicle membrane (GO:0070083)|dense core granule (GO:0031045)|endocytic vesicle membrane (GO:0030666)|excitatory synapse (GO:0060076)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672)	1-phosphatidylinositol binding (GO:0005545)|calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|low-density lipoprotein particle receptor binding (GO:0050750)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylserine binding (GO:0001786)|SNARE binding (GO:0000149)|syntaxin-1 binding (GO:0017075)|transporter activity (GO:0005215)			NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|pancreas(2)|skin(6)	25						AAAGTCCACCGAAAAACCCTT	0.383																																						uc001sys.2		NA																	0				skin(3)|pancreas(2)|ovary(1)	6						c.(598-600)CGA>CTA		synaptotagmin I							99.0	103.0	102.0					12																	79689973		2203	4300	6503	SO:0001583	missense	6857				detection of calcium ion|glutamate secretion|neurotransmitter secretion|protein homooligomerization	cell junction|chromaffin granule membrane|clathrin sculpted acetylcholine transport vesicle membrane|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|clathrin sculpted glutamate transport vesicle membrane|clathrin sculpted monoamine transport vesicle membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane	1-phosphatidylinositol binding|low-density lipoprotein particle receptor binding|metal ion binding|syntaxin-1 binding|transporter activity	g.chr12:79689973G>T		CCDS9017.1	12q21.2	2013-09-20			ENSG00000067715	ENSG00000067715		"""Synaptotagmins"""	11509	protein-coding gene	gene with protein product		185605		SYT, SVP65		1840599	Standard	NM_001135805		Approved	P65	uc001syv.3	P21579	OTTHUMG00000134326	ENST00000261205.4:c.599G>T	12.37:g.79689973G>T	ENSP00000261205:p.Arg200Leu					SYT1_uc001syt.2_Missense_Mutation_p.R200L|SYT1_uc001syu.2_Missense_Mutation_p.R197L|SYT1_uc001syv.2_Missense_Mutation_p.R200L	p.R200L	NM_001135805	NP_001129277	P21579	SYT1_HUMAN			8	1270	+			200			Cytoplasmic (Potential).|Phospholipid binding (Probable).|C2 1.		Q6AI31	Missense_Mutation	SNP	ENST00000261205.4	37	c.599G>T	CCDS9017.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	24.0|24.0	4.478780|4.478780	0.84747|0.84747	.|.	.|.	ENSG00000067715|ENSG00000067715	ENST00000549559|ENST00000393240;ENST00000261205;ENST00000457153;ENST00000552744	.|T;T;T;T	.|0.70399	.|-0.48;-0.48;-0.48;-0.48	5.52|5.52	5.52|5.52	0.82312|0.82312	.|C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	.|0.078676	.|0.64402	.|D	.|0.000001	.|D	.|0.83027	.|0.5165	M|M	0.83774|0.83774	2.66|2.66	0.80722|0.80722	D|D	1|1	.|D;D	.|0.62365	.|0.991;0.991	.|P;P	.|0.55303	.|0.773;0.773	.|D	.|0.85436	.|0.1152	.|10	.|0.87932	.|D	.|0	.|.	19.8046|19.8046	0.96525|0.96525	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|200;200	.|Q6AI31;P21579	.|.;SYT1_HUMAN	X|L	102|200;200;197;200	.|ENSP00000376932:R200L;ENSP00000261205:R200L;ENSP00000391056:R197L;ENSP00000447575:R200L	.|ENSP00000261205:R200L	E|R	+|+	1|2	0|0	SYT1|SYT1	78214104|78214104	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.956000|7.956000	0.87863|0.87863	2.754000|2.754000	0.94517|0.94517	0.650000|0.650000	0.86243|0.86243	GAA|CGA		0.383	SYT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000259415.1	NM_005639		22	60	1	0	1.11e-09	1.17e-09	22	60				
TMTC3	160418	broad.mit.edu	37	12	88547232	88547232	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr12:88547232G>C	ENST00000266712.6	+	3	574	c.354G>C	c.(352-354)aaG>aaC	p.K118N		NM_181783.3	NP_861448.2	Q6ZXV5	TMTC3_HUMAN	transmembrane and tetratricopeptide repeat containing 3	118					bud outgrowth involved in lung branching (GO:0060447)|lung alveolus development (GO:0048286)|muscle fiber development (GO:0048747)|post-embryonic development (GO:0009791)|regulation of gene expression (GO:0010468)	integral component of membrane (GO:0016021)				NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|liver(1)|lung(12)|prostate(4)|skin(1)	31						TGGACAACAAGAGTAGTGTGA	0.328																																						uc001tau.2		NA																	0				skin(1)	1						c.(352-354)AAG>AAC		transmembrane and tetratricopeptide repeat							128.0	108.0	114.0					12																	88547232		2203	4300	6503	SO:0001583	missense	160418					integral to membrane	binding	g.chr12:88547232G>C		CCDS9032.1	12q21.32	2014-09-04			ENSG00000139324	ENSG00000139324		"""Tetratricopeptide (TTC) repeat domain containing"""	26899	protein-coding gene	gene with protein product							Standard	NM_181783		Approved	FLJ90492, SMILE	uc001tau.3	Q6ZXV5	OTTHUMG00000169887	ENST00000266712.6:c.354G>C	12.37:g.88547232G>C	ENSP00000266712:p.Lys118Asn					TMTC3_uc009zsm.2_RNA	p.K118N	NM_181783	NP_861448	Q6ZXV5	TMTC3_HUMAN			3	574	+			118					Q5CZ86|Q5H9T6|Q68DQ6|Q68DX0|Q7Z332|Q8NC50	Missense_Mutation	SNP	ENST00000266712.6	37	c.354G>C	CCDS9032.1	.	.	.	.	.	.	.	.	.	.	G	11.50	1.656014	0.29425	.	.	ENSG00000139324	ENST00000549011;ENST00000266712	D;T	0.94457	-3.43;-0.03	5.89	0.95	0.19572	.	0.435370	0.28252	N	0.016025	D	0.86932	0.6052	N	0.22421	0.69	0.09310	N	0.999994	B	0.13594	0.008	B	0.16289	0.015	T	0.72232	-0.4353	10	0.18276	T	0.48	-1.1915	9.58	0.39481	0.3967:0.0:0.6033:0.0	.	118	Q6ZXV5-2	.	N	118	ENSP00000447640:K118N;ENSP00000266712:K118N	ENSP00000266712:K118N	K	+	3	2	TMTC3	87071363	0.977000	0.34250	0.168000	0.22838	0.946000	0.59487	1.108000	0.31123	0.119000	0.18210	0.585000	0.79938	AAG		0.328	TMTC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406421.1	NM_181783		19	67	0	0	0	0	19	67				
DEPDC4	120863	broad.mit.edu	37	12	100657384	100657384	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr12:100657384C>A	ENST00000416321.1	-	2	447	c.445G>T	c.(445-447)Gaa>Taa	p.E149*		NM_152317.2	NP_689530.1	Q8N2C3	DEPD4_HUMAN	DEP domain containing 4	149	DEP. {ECO:0000255|PROSITE- ProRule:PRU00066}.				intracellular signal transduction (GO:0035556)					NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|pancreas(1)|urinary_tract(1)	15						TCTTCAAATTCTAATTCCTTT	0.338																																						uc001thi.2		NA																	0					0						c.(445-447)GAA>TAA		DEP domain containing 4							70.0	72.0	72.0					12																	100657384		2202	4300	6502	SO:0001587	stop_gained	120863				intracellular signal transduction			g.chr12:100657384C>A	AK090824	CCDS9075.1	12q23	2006-03-30				ENSG00000166153			22952	protein-coding gene	gene with protein product						12477932	Standard	XM_005268628		Approved	DEP.4, FLJ33505	uc001thi.3	Q8N2C3		ENST00000416321.1:c.445G>T	12.37:g.100657384C>A	ENSP00000396234:p.Glu149*					DEPDC4_uc001thh.1_RNA|DEPDC4_uc001thj.1_Nonsense_Mutation_p.E82*|DEPDC4_uc009ztv.1_Nonsense_Mutation_p.E149*|DEPDC4_uc001thk.1_Intron|DEPDC4_uc001thl.1_Intron	p.E149*	NM_152317	NP_689530	Q8N2C3	DEPD4_HUMAN			2	448	-			149			DEP.		Q496C8|Q96BW0	Nonsense_Mutation	SNP	ENST00000416321.1	37	c.445G>T	CCDS9075.1	.	.	.	.	.	.	.	.	.	.	C	13.37	2.217412	0.39201	.	.	ENSG00000166153	ENST00000422147;ENST00000378250;ENST00000416321;ENST00000550587;ENST00000549249;ENST00000551642	.	.	.	4.93	1.99	0.26369	.	0.413197	0.25175	U	0.032578	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.29301	T	0.29	.	8.5124	0.33226	0.3105:0.5395:0.15:0.0	.	.	.	.	X	149;82;149;149;82;142	.	ENSP00000367490:E149X	E	-	1	0	DEPDC4	99181515	0.003000	0.15002	0.676000	0.29932	0.295000	0.27426	1.000000	0.29770	0.108000	0.17862	-0.261000	0.10672	GAA		0.338	DEPDC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408482.1	NM_152317		27	51	1	0	2.45e-14	2.61e-14	27	51				
DEPDC4	120863	broad.mit.edu	37	12	100657450	100657450	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr12:100657450G>C	ENST00000416321.1	-	2	381	c.379C>G	c.(379-381)Cta>Gta	p.L127V		NM_152317.2	NP_689530.1	Q8N2C3	DEPD4_HUMAN	DEP domain containing 4	127	DEP. {ECO:0000255|PROSITE- ProRule:PRU00066}.				intracellular signal transduction (GO:0035556)					NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|pancreas(1)|urinary_tract(1)	15						TGATTCATTAGAACTTGGCAA	0.358																																						uc001thi.2		NA																	0					0						c.(379-381)CTA>GTA		DEP domain containing 4							109.0	102.0	105.0					12																	100657450		2203	4300	6503	SO:0001583	missense	120863				intracellular signal transduction			g.chr12:100657450G>C	AK090824	CCDS9075.1	12q23	2006-03-30				ENSG00000166153			22952	protein-coding gene	gene with protein product						12477932	Standard	XM_005268628		Approved	DEP.4, FLJ33505	uc001thi.3	Q8N2C3		ENST00000416321.1:c.379C>G	12.37:g.100657450G>C	ENSP00000396234:p.Leu127Val					DEPDC4_uc001thh.1_RNA|DEPDC4_uc001thj.1_Missense_Mutation_p.L60V|DEPDC4_uc009ztv.1_Missense_Mutation_p.L127V|DEPDC4_uc001thk.1_Intron|DEPDC4_uc001thl.1_Intron	p.L127V	NM_152317	NP_689530	Q8N2C3	DEPD4_HUMAN			2	382	-			127			DEP.		Q496C8|Q96BW0	Missense_Mutation	SNP	ENST00000416321.1	37	c.379C>G	CCDS9075.1	.	.	.	.	.	.	.	.	.	.	G	15.93	2.978922	0.53827	.	.	ENSG00000166153	ENST00000422147;ENST00000378250;ENST00000416321;ENST00000550587;ENST00000549249;ENST00000551642	T;T;T;T	0.53206	0.63;0.63;0.63;0.63	4.66	2.8	0.32819	DEP domain (3);Winged helix-turn-helix transcription repressor DNA-binding (1);	0.172576	0.39210	N	0.001421	T	0.56426	0.1984	M	0.85099	2.735	0.30165	N	0.801813	P;P;D	0.56746	0.949;0.879;0.977	P;P;P	0.51324	0.55;0.452;0.666	T	0.60811	-0.7189	10	0.87932	D	0	.	5.0395	0.14452	0.1914:0.1741:0.6345:0.0	.	127;60;127	E9PGM3;Q3ZCN8;Q8N2C3	.;.;DEPD4_HUMAN	V	127;60;127;127;60;120	ENSP00000396234:L127V;ENSP00000448385:L127V;ENSP00000448338:L60V;ENSP00000449590:L120V	ENSP00000367490:L127V	L	-	1	2	DEPDC4	99181581	0.993000	0.37304	1.000000	0.80357	0.959000	0.62525	1.780000	0.38634	0.385000	0.24970	-0.244000	0.11960	CTA		0.358	DEPDC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408482.1	NM_152317		31	71	0	0	0	0	31	71				
PAH	5053	broad.mit.edu	37	12	103248921	103248921	+	Silent	SNP	G	G	A	rs62517208		TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr12:103248921G>A	ENST00000553106.1	-	6	1171	c.699C>T	c.(697-699)ttC>ttT	p.F233F	PAH_ENST00000307000.2_Silent_p.F228F|PAH_ENST00000551988.1_5'Flank	NM_000277.1	NP_000268.1	P00439	PH4H_HUMAN	phenylalanine hydroxylase	233			F -> L (in PKU; haplotypes 2,3).		catecholamine biosynthetic process (GO:0042423)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|L-phenylalanine catabolic process (GO:0006559)|neurotransmitter biosynthetic process (GO:0042136)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	amino acid binding (GO:0016597)|iron ion binding (GO:0005506)|phenylalanine 4-monooxygenase activity (GO:0004505)			endometrium(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(5)|skin(2)|urinary_tract(1)	27					Droxidopa(DB06262)|Epinephrine(DB00668)|L-Phenylalanine(DB00120)|Norepinephrine(DB00368)|Tetrahydrobiopterin(DB00360)	TACTCTGCAGGAACTGAGAAA	0.488																																						uc001tjq.1		NA																	0				ovary(4)	4	GRCh37	CM010963	PAH	M	rs62517208	c.(697-699)TTC>TTT		phenylalanine hydroxylase	Epinephrine(DB00668)|L-Phenylalanine(DB00120)|Levodopa(DB01235)|Norepinephrine(DB00368)|Tetrahydrobiopterin(DB00360)						115.0	106.0	109.0					12																	103248921		2203	4300	6503	SO:0001819	synonymous_variant	5053				catecholamine biosynthetic process|L-phenylalanine catabolic process|neurotransmitter biosynthetic process	cytosol	phenylalanine 4-monooxygenase activity	g.chr12:103248921G>A	U49897	CCDS9092.1	12q22-q24.2	2010-04-27				ENSG00000171759	1.14.16.1		8582	protein-coding gene	gene with protein product	"""phenylalanine 4-monooxygenase"""	612349				2063869	Standard	NM_000277		Approved	PH	uc001tjq.1	P00439		ENST00000553106.1:c.699C>T	12.37:g.103248921G>A						PAH_uc010swc.1_Silent_p.F233F	p.F233F	NM_000277	NP_000268	P00439	PH4H_HUMAN			7	1171	-			233		F -> L (in PKU; haplotypes 2,3).			Q16717|Q8TC14	Silent	SNP	ENST00000553106.1	37	c.699C>T	CCDS9092.1																																																																																				0.488	PAH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406692.1			17	48	0	0	0	0	17	48				
C12orf45	121053	broad.mit.edu	37	12	105388468	105388468	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr12:105388468G>C	ENST00000552951.1	+	4	595	c.552G>C	c.(550-552)aaG>aaC	p.K184N	C12orf45_ENST00000280749.5_3'UTR|C12orf45_ENST00000548583.1_Intron	NM_152318.2	NP_689531.2	Q8N5I9	CL045_HUMAN	chromosome 12 open reading frame 45	184										large_intestine(1)|lung(2)	3						GTAAAAAAAAGAAATAGTCAA	0.368																																						uc001tlb.2		NA																	0					0						c.(550-552)AAG>AAC		hypothetical protein LOC121053							50.0	47.0	48.0					12																	105388468		1809	4073	5882	SO:0001583	missense	121053							g.chr12:105388468G>C	BC032326	CCDS41825.1	12q23.3	2012-05-30			ENSG00000151131	ENSG00000151131			28628	protein-coding gene	gene with protein product						12477932	Standard	NM_152318		Approved	MGC40397	uc001tlb.3	Q8N5I9	OTTHUMG00000169822	ENST00000552951.1:c.552G>C	12.37:g.105388468G>C	ENSP00000447057:p.Lys184Asn						p.K184N	NM_152318	NP_689531	Q8N5I9	CL045_HUMAN			4	585	+			184						Missense_Mutation	SNP	ENST00000552951.1	37	c.552G>C	CCDS41825.1	.	.	.	.	.	.	.	.	.	.	G	12.29	1.894756	0.33442	.	.	ENSG00000151131	ENST00000552951	T	0.36520	1.25	5.01	3.05	0.35203	.	0.360356	0.27406	N	0.019519	T	0.24431	0.0592	L	0.27053	0.805	0.26451	N	0.97561	B	0.33238	0.403	B	0.36418	0.224	T	0.16867	-1.0388	10	0.87932	D	0	-11.2166	5.8266	0.18556	0.0983:0.0:0.712:0.1898	.	184	Q8N5I9	CL045_HUMAN	N	184	ENSP00000447057:K184N	ENSP00000447057:K184N	K	+	3	2	C12orf45	103912598	0.079000	0.21365	0.968000	0.41197	0.692000	0.40212	0.717000	0.25851	1.252000	0.44001	0.650000	0.86243	AAG		0.368	C12orf45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406076.1	NM_152318		16	34	0	0	0	0	16	34				
ALDH1L2	160428	broad.mit.edu	37	12	105446691	105446691	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr12:105446691C>T	ENST00000258494.9	-	11	1446	c.1306G>A	c.(1306-1308)Gaa>Aaa	p.E436K	ALDH1L2_ENST00000424857.2_Missense_Mutation_p.E436K	NM_001034173.3	NP_001029345.2	Q3SY69	AL1L2_HUMAN	aldehyde dehydrogenase 1 family, member L2	436					10-formyltetrahydrofolate catabolic process (GO:0009258)|biosynthetic process (GO:0009058)|one-carbon metabolic process (GO:0006730)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	formyltetrahydrofolate dehydrogenase activity (GO:0016155)|hydroxymethyl-, formyl- and related transferase activity (GO:0016742)|methyltransferase activity (GO:0008168)|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor (GO:0016620)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|prostate(2)|skin(3)|stomach(2)	35						ACCATGATTTCATTGACCTCC	0.363											OREG0022073	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001tlc.2		NA																	0				skin(1)	1						c.(1306-1308)GAA>AAA		aldehyde dehydrogenase 1 family, member L2							151.0	119.0	130.0					12																	105446691		2203	4300	6503	SO:0001583	missense	160428				10-formyltetrahydrofolate catabolic process|biosynthetic process	mitochondrion	acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity|phosphopantetheine binding	g.chr12:105446691C>T	AK095827	CCDS31891.1	12q23.3	2014-09-11			ENSG00000136010	ENSG00000136010	1.5.1.6	"""Aldehyde dehydrogenases"""	26777	protein-coding gene	gene with protein product	"""mitochondrial 10-formyltetrahydrofolate dehydrogenase"""	613584				20498374	Standard	NM_001034173		Approved	FLJ38508, mtFDH	uc001tlc.3	Q3SY69	OTTHUMG00000169823	ENST00000258494.9:c.1306G>A	12.37:g.105446691C>T	ENSP00000258494:p.Glu436Lys		OREG0022073	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1389	ALDH1L2_uc009zuo.2_5'UTR|ALDH1L2_uc009zup.2_RNA	p.E436K	NM_001034173	NP_001029345	Q3SY69	AL1L2_HUMAN			11	1433	-			436					Q3SY68|Q68D62|Q6AI55|Q8N922	Missense_Mutation	SNP	ENST00000258494.9	37	c.1306G>A	CCDS31891.1	.	.	.	.	.	.	.	.	.	.	C	7.348	0.622362	0.14193	.	.	ENSG00000136010	ENST00000258494;ENST00000424857	T;T	0.15256	2.44;3.35	5.76	3.73	0.42828	Aldehyde/histidinol dehydrogenase (1);	0.320592	0.39687	N	0.001282	T	0.04815	0.0130	N	0.02539	-0.55	0.30304	N	0.789171	B	0.02656	0.0	B	0.01281	0.0	T	0.30822	-0.9965	10	0.08381	T	0.77	.	4.2473	0.10677	0.0:0.5521:0.0:0.4479	.	436	Q3SY69	AL1L2_HUMAN	K	436	ENSP00000258494:E436K;ENSP00000389608:E436K	ENSP00000258494:E436K	E	-	1	0	ALDH1L2	103970821	1.000000	0.71417	0.914000	0.36105	0.851000	0.48451	3.230000	0.51286	1.453000	0.47775	0.655000	0.94253	GAA		0.363	ALDH1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406098.1	XM_090294		22	55	0	0	0	0	22	55				
ACACB	32	broad.mit.edu	37	12	109577263	109577263	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr12:109577263C>G	ENST00000338432.7	+	2	172	c.53C>G	c.(52-54)tCc>tGc	p.S18C	ACACB_ENST00000377848.3_Missense_Mutation_p.S18C|ACACB_ENST00000377854.5_Missense_Mutation_p.S18C			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	18					acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|malonyl-CoA biosynthetic process (GO:2001295)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Adenine(DB00173)|Biotin(DB00121)	CTGACCTTTTCCTGGTTAAAA	0.433																																						uc001tob.2		NA																	0				ovary(5)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1)	8						c.(52-54)TCC>TGC		acetyl-Coenzyme A carboxylase beta	Biotin(DB00121)						97.0	93.0	94.0					12																	109577263		2203	4300	6503	SO:0001583	missense	32				acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding	g.chr12:109577263C>G	U89344	CCDS31898.1	12q24.1	2010-05-07	2010-04-30		ENSG00000076555	ENSG00000076555	6.4.1.2		85	protein-coding gene	gene with protein product	"""acetyl-CoA carboxylase 2"""	601557	"""acetyl-Coenzyme A carboxylase beta"""			8670171	Standard	NM_001093		Approved	HACC275, ACC2, ACCB	uc001toc.3	O00763	OTTHUMG00000169250	ENST00000338432.7:c.53C>G	12.37:g.109577263C>G	ENSP00000341044:p.Ser18Cys					ACACB_uc001toc.2_Missense_Mutation_p.S18C	p.S18C	NM_001093	NP_001084	O00763	ACACB_HUMAN			2	172	+			18					A6NK36|Q16852|Q1HEC1|Q6KE87|Q6KE89|Q6TY48	Missense_Mutation	SNP	ENST00000338432.7	37	c.53C>G	CCDS31898.1	.	.	.	.	.	.	.	.	.	.	C	14.58	2.579066	0.46006	.	.	ENSG00000076555	ENST00000338432;ENST00000377848;ENST00000377854	T;T;T	0.63417	-0.04;-0.04;-0.04	5.75	4.67	0.58626	.	0.269718	0.27072	N	0.021068	T	0.47322	0.1439	N	0.22421	0.69	0.80722	D	1	P	0.45283	0.855	B	0.40901	0.343	T	0.52215	-0.8605	10	0.62326	D	0.03	.	10.5379	0.45016	0.0:0.8989:0.0:0.1011	.	18	O00763	ACACB_HUMAN	C	18	ENSP00000341044:S18C;ENSP00000367079:S18C;ENSP00000367085:S18C	ENSP00000341044:S18C	S	+	2	0	ACACB	108061646	1.000000	0.71417	1.000000	0.80357	0.792000	0.44763	1.544000	0.36158	2.732000	0.93576	0.650000	0.86243	TCC		0.433	ACACB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403077.1	NM_001093		10	91	0	0	0	0	10	91				
ACACB	32	broad.mit.edu	37	12	109629726	109629726	+	Silent	SNP	C	C	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr12:109629726C>T	ENST00000338432.7	+	15	2489	c.2370C>T	c.(2368-2370)tgC>tgT	p.C790C	ACACB_ENST00000377848.3_Silent_p.C790C|ACACB_ENST00000377854.5_Silent_p.C790C			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	790					acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|malonyl-CoA biosynthetic process (GO:2001295)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Adenine(DB00173)|Biotin(DB00121)	TCAGAACGTGCATGACAGATT	0.517																																						uc001tob.2		NA																	0				ovary(5)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1)	8						c.(2368-2370)TGC>TGT		acetyl-Coenzyme A carboxylase beta	Biotin(DB00121)						136.0	113.0	120.0					12																	109629726		2203	4300	6503	SO:0001819	synonymous_variant	32				acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding	g.chr12:109629726C>T	U89344	CCDS31898.1	12q24.1	2010-05-07	2010-04-30		ENSG00000076555	ENSG00000076555	6.4.1.2		85	protein-coding gene	gene with protein product	"""acetyl-CoA carboxylase 2"""	601557	"""acetyl-Coenzyme A carboxylase beta"""			8670171	Standard	NM_001093		Approved	HACC275, ACC2, ACCB	uc001toc.3	O00763	OTTHUMG00000169250	ENST00000338432.7:c.2370C>T	12.37:g.109629726C>T						ACACB_uc001toc.2_Silent_p.C790C	p.C790C	NM_001093	NP_001084	O00763	ACACB_HUMAN			15	2489	+			790					A6NK36|Q16852|Q1HEC1|Q6KE87|Q6KE89|Q6TY48	Silent	SNP	ENST00000338432.7	37	c.2370C>T	CCDS31898.1																																																																																				0.517	ACACB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403077.1	NM_001093		6	76	0	0	0	0	6	76				
TRAFD1	10906	broad.mit.edu	37	12	112590581	112590581	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr12:112590581G>A	ENST00000257604.5	+	12	2352	c.1735G>A	c.(1735-1737)Gaa>Aaa	p.E579K	TRAFD1_ENST00000412615.2_Missense_Mutation_p.E579K	NM_001143906.1	NP_001137378.1	O14545	TRAD1_HUMAN	TRAF-type zinc finger domain containing 1	579	Poly-Glu.				negative regulation of innate immune response (GO:0045824)|response to cytokine (GO:0034097)		metal ion binding (GO:0046872)			kidney(5)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	17						TGCAGAAGAGGAAGAGGAGGA	0.493																																						uc001ttp.2		NA																	0					0						c.(1735-1737)GAA>AAA		TRAF-type zinc finger domain containing 1							150.0	134.0	139.0					12																	112590581		2203	4300	6503	SO:0001583	missense	10906				negative regulation of innate immune response	intracellular	protein binding|zinc ion binding	g.chr12:112590581G>A	AB007447	CCDS9160.1	12q24.13	2013-01-25			ENSG00000135148	ENSG00000135148			24808	protein-coding gene	gene with protein product		613197				12477932	Standard	NM_006700		Approved	FLN29	uc001ttp.3	O14545	OTTHUMG00000169640	ENST00000257604.5:c.1735G>A	12.37:g.112590581G>A	ENSP00000257604:p.Glu579Lys					TRAFD1_uc001tto.2_Missense_Mutation_p.E579K	p.E579K	NM_006700	NP_006691	O14545	TRAD1_HUMAN			12	1821	+			579			Poly-Glu.		A8K5L6|B4DI89	Missense_Mutation	SNP	ENST00000257604.5	37	c.1735G>A	CCDS9160.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.091482	0.76756	.	.	ENSG00000135148	ENST00000412615;ENST00000257604	T;T	0.42131	0.98;0.98	6.04	6.04	0.98038	.	0.078554	0.52532	D	0.000073	T	0.55000	0.1893	M	0.72118	2.19	0.37344	D	0.910511	P	0.44139	0.827	P	0.49192	0.602	T	0.62973	-0.6740	10	0.87932	D	0	-2.7004	16.0793	0.80989	0.0:0.0:1.0:0.0	.	579	O14545	TRAD1_HUMAN	K	579	ENSP00000396526:E579K;ENSP00000257604:E579K	ENSP00000257604:E579K	E	+	1	0	TRAFD1	111074964	1.000000	0.71417	0.927000	0.36925	0.737000	0.42083	2.732000	0.47352	2.873000	0.98535	0.561000	0.74099	GAA		0.493	TRAFD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405214.1	NM_006700		14	72	0	0	0	0	14	72				
HECTD4	283450	broad.mit.edu	37	12	112699141	112699141	+	Silent	SNP	G	G	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr12:112699141G>A	ENST00000430131.2	-	17	2690	c.1545C>T	c.(1543-1545)ctC>ctT	p.L515L	RP3-521E19.2_ENST00000547401.1_RNA|HECTD4_ENST00000550722.1_Silent_p.L801L|HECTD4_ENST00000377560.5_Silent_p.L765L			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	515					glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)										CACTATTTATGAGGGCAGTTG	0.458																																						uc009zwc.2		NA																	0				ovary(1)|lung(1)	2						c.(1543-1545)CTC>CTT		chromosome 12 open reading frame 51							100.0	86.0	91.0					12																	112699141		2203	4300	6503	SO:0001819	synonymous_variant	283450							g.chr12:112699141G>A	AK091473		12q24.13	2013-07-17	2012-08-14	2012-08-14	ENSG00000173064	ENSG00000173064			26611	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 51"""	C12orf51		21270382	Standard	NM_001109662		Approved	FLJ34154, KIAA0614	uc021reb.1	Q9Y4D8	OTTHUMG00000150719	ENST00000430131.2:c.1545C>T	12.37:g.112699141G>A						C12orf51_uc010syk.1_Silent_p.L338L|C12orf51_uc001tts.2_Silent_p.L338L|C12orf51_uc001ttt.3_Silent_p.L336L	p.L515L	NM_001109662	NP_001103132					11	1563	-								L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Silent	SNP	ENST00000430131.2	37	c.1545C>T																																																																																					0.458	HECTD4-202	KNOWN	basic	protein_coding	protein_coding		NM_173813		19	55	0	0	0	0	19	55				
C12orf49	79794	broad.mit.edu	37	12	117175661	117175661	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr12:117175661C>G	ENST00000261318.3	-	1	205	c.45G>C	c.(43-45)aaG>aaC	p.K15N	C12orf49_ENST00000536380.1_Missense_Mutation_p.E38Q|RNFT2_ENST00000392549.2_5'Flank|RNFT2_ENST00000257575.4_5'Flank|RNFT2_ENST00000407967.3_5'Flank|RNFT2_ENST00000319176.7_5'Flank	NM_024738.1	NP_079014.1	Q9H741	CL049_HUMAN	chromosome 12 open reading frame 49	15						extracellular region (GO:0005576)				endometrium(1)|lung(1)|ovary(1)|skin(1)	4	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0281)		GCACCCACCTCTTCCGCAGAA	0.721																																						uc001tvz.1		NA																	0				ovary(1)	1						c.(43-45)AAG>AAC		hypothetical protein LOC79794 precursor							39.0	29.0	33.0					12																	117175661		2201	4298	6499	SO:0001583	missense	79794					extracellular region		g.chr12:117175661C>G	AK025068	CCDS9179.1	12q24.22	2012-05-30			ENSG00000111412	ENSG00000111412			26128	protein-coding gene	gene with protein product						12477932	Standard	NM_024738		Approved	FLJ21415	uc001tvz.1	Q9H741	OTTHUMG00000169392	ENST00000261318.3:c.45G>C	12.37:g.117175661C>G	ENSP00000261318:p.Lys15Asn					RNFT2_uc009zwn.2_5'Flank|RNFT2_uc001twb.3_5'Flank|RNFT2_uc001twa.3_5'Flank|C12orf49_uc009zwm.1_Missense_Mutation_p.E38Q	p.K15N	NM_024738	NP_079014	Q9H741	CL049_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0281)	1	183	-	all_neural(191;0.117)|Medulloblastoma(191;0.163)		15					Q53GE8	Missense_Mutation	SNP	ENST00000261318.3	37	c.45G>C	CCDS9179.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.69|18.69	3.677184|3.677184	0.68042|0.68042	.|.	.|.	ENSG00000111412|ENSG00000111412	ENST00000536380|ENST00000261318	.|T	.|0.51574	.|0.7	4.64|4.64	2.77|2.77	0.32553|0.32553	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.60663|0.60663	0.2286|0.2286	M|M	0.67953|0.67953	2.075|2.075	0.21841|0.21841	N|N	0.999516|0.999516	B|D	0.18968|0.57899	0.032|0.981	B|D	0.24701|0.67231	0.055|0.95	T|T	0.49716|0.49716	-0.8910|-0.8910	8|10	0.13853|0.72032	T|D	0.58|0.01	-21.7549|-21.7549	8.5712|8.5712	0.33569|0.33569	0.0:0.8185:0.0:0.1815|0.0:0.8185:0.0:0.1815	.|.	38|15	F5H6Y2|Q9H741	.|CL049_HUMAN	Q|N	38|15	.|ENSP00000261318:K15N	ENSP00000442947:E38Q|ENSP00000261318:K15N	E|K	-|-	1|3	0|2	C12orf49|C12orf49	115660044|115660044	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	1.317000|1.317000	0.33631|0.33631	1.176000|1.176000	0.42840|0.42840	0.655000|0.655000	0.94253|0.94253	GAG|AAG		0.721	C12orf49-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403847.1	NM_024738		12	24	0	0	0	0	12	24				
C12orf43	64897	broad.mit.edu	37	12	121448689	121448689	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr12:121448689G>A	ENST00000288757.3	-	3	251	c.229C>T	c.(229-231)Cag>Tag	p.Q77*	C12orf43_ENST00000537817.1_Nonsense_Mutation_p.Q78*|C12orf43_ENST00000539736.1_Nonsense_Mutation_p.Q77*|C12orf43_ENST00000445832.3_Nonsense_Mutation_p.Q47*|C12orf43_ENST00000536407.2_Nonsense_Mutation_p.Q77*|C12orf43_ENST00000366211.2_Nonsense_Mutation_p.Q35*	NM_022895.1	NP_075046.1	Q96C57	CL043_HUMAN	chromosome 12 open reading frame 43	77										cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					GGGGTGGTCTGAAGCTCGTTG	0.527																																						uc001tzh.1		NA																	0					0						c.(229-231)CAG>TAG		hypothetical protein LOC64897							224.0	189.0	201.0					12																	121448689		2203	4300	6503	SO:0001587	stop_gained	64897							g.chr12:121448689G>A	AK022510	CCDS66486.1, CCDS66487.1	12q24.31	2012-05-30			ENSG00000157895	ENSG00000157895			25719	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_001286195		Approved	FLJ12448	uc001tzh.1	Q96C57	OTTHUMG00000169150	ENST00000288757.3:c.229C>T	12.37:g.121448689G>A	ENSP00000288757:p.Gln77*					C12orf43_uc009zxa.1_Nonsense_Mutation_p.Q108*|C12orf43_uc010szo.1_Nonsense_Mutation_p.Q35*|C12orf43_uc010szp.1_Nonsense_Mutation_p.Q77*|C12orf43_uc001tzi.1_Nonsense_Mutation_p.Q77*	p.Q77*	NM_022895	NP_075046	Q96C57	CL043_HUMAN			3	252	-	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)		77					Q53HF0|Q9H9Z7	Nonsense_Mutation	SNP	ENST00000288757.3	37	c.229C>T	CCDS9210.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	36|36	5.629634|5.629634	0.96671|0.96671	.|.	.|.	ENSG00000157895|ENSG00000157895	ENST00000445832;ENST00000288757;ENST00000537817;ENST00000366211;ENST00000539736;ENST00000535367|ENST00000536407	.|.	.|.	.|.	5.53|5.53	5.53|5.53	0.82687|0.82687	.|.	0.175416|.	0.50627|.	D|.	0.000101|.	.|T	.|0.74839	.|0.3769	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.73107	.|-0.4087	.|3	0.28530|.	T|.	0.3|.	-12.5441|-12.5441	18.4549|18.4549	0.90717|0.90717	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|L	47;77;78;35;77;31|81	.|.	ENSP00000288757:Q77X|.	Q|S	-|-	1|2	0|0	C12orf43|C12orf43	119933072|119933072	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.979000|0.979000	0.70002|0.70002	7.629000|7.629000	0.83207|0.83207	2.613000|2.613000	0.88420|0.88420	0.563000|0.563000	0.77884|0.77884	CAG|TCA		0.527	C12orf43-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_022895		50	95	0	0	0	0	50	95				
ZCCHC8	55596	broad.mit.edu	37	12	122962395	122962395	+	Silent	SNP	G	G	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr12:122962395G>A	ENST00000336229.4	-	13	1468	c.1338C>T	c.(1336-1338)ctC>ctT	p.L446L	ZCCHC8_ENST00000543897.1_Silent_p.L208L|ZCCHC8_ENST00000536306.1_Silent_p.L208L|ZCCHC8_ENST00000538116.1_Silent_p.L57L	NM_017612.3	NP_060082.2	Q6NZY4	ZCHC8_HUMAN	zinc finger, CCHC domain containing 8	446					mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.25e-05)|Epithelial(86;0.000113)|BRCA - Breast invasive adenocarcinoma(302;0.202)		TACCTGAATCGAGCTCCATGT	0.463																																						uc001ucn.2		NA																	0					0						c.(1336-1338)CTC>CTT		zinc finger, CCHC domain containing 8							89.0	88.0	88.0					12																	122962395		1859	4094	5953	SO:0001819	synonymous_variant	55596					catalytic step 2 spliceosome	nucleic acid binding|protein binding|zinc ion binding	g.chr12:122962395G>A	BC017704		12q24.31	2014-04-14				ENSG00000033030		"""Zinc fingers, CCHC domain containing"""	25265	protein-coding gene	gene with protein product						12477932	Standard	XM_005253581		Approved	DKFZp434E2220	uc001ucn.3	Q6NZY4		ENST00000336229.4:c.1338C>T	12.37:g.122962395G>A						ZCCHC8_uc001ucl.2_Silent_p.L57L|ZCCHC8_uc001ucm.2_Silent_p.L208L|ZCCHC8_uc009zxp.2_Silent_p.L208L|ZCCHC8_uc009zxq.2_Silent_p.L208L	p.L446L	NM_017612	NP_060082	Q6NZY4	ZCHC8_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;5.25e-05)|Epithelial(86;0.000113)|BRCA - Breast invasive adenocarcinoma(302;0.202)	13	1469	-	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		446					Q7L2P6|Q8N2K5|Q96SK7|Q9NSS2|Q9NSS3	Silent	SNP	ENST00000336229.4	37	c.1338C>T																																																																																					0.463	ZCCHC8-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_017612		14	43	0	0	0	0	14	43				
ZCCHC8	55596	broad.mit.edu	37	12	122967208	122967208	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr12:122967208C>G	ENST00000336229.4	-	8	836	c.706G>C	c.(706-708)Gaa>Caa	p.E236Q	ZCCHC8_ENST00000543897.1_5'UTR|ZCCHC8_ENST00000536306.1_5'UTR	NM_017612.3	NP_060082.2	Q6NZY4	ZCHC8_HUMAN	zinc finger, CCHC domain containing 8	236					mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.25e-05)|Epithelial(86;0.000113)|BRCA - Breast invasive adenocarcinoma(302;0.202)		ATTTGGTGTTCTTCAGAACCA	0.289																																						uc001ucn.2		NA																	0					0						c.(706-708)GAA>CAA		zinc finger, CCHC domain containing 8							42.0	42.0	42.0					12																	122967208		1806	4058	5864	SO:0001583	missense	55596					catalytic step 2 spliceosome	nucleic acid binding|protein binding|zinc ion binding	g.chr12:122967208C>G	BC017704		12q24.31	2014-04-14				ENSG00000033030		"""Zinc fingers, CCHC domain containing"""	25265	protein-coding gene	gene with protein product						12477932	Standard	XM_005253581		Approved	DKFZp434E2220	uc001ucn.3	Q6NZY4		ENST00000336229.4:c.706G>C	12.37:g.122967208C>G	ENSP00000337313:p.Glu236Gln					ZCCHC8_uc001ucm.2_5'UTR|ZCCHC8_uc009zxp.2_5'UTR|ZCCHC8_uc009zxq.2_5'UTR	p.E236Q	NM_017612	NP_060082	Q6NZY4	ZCHC8_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;5.25e-05)|Epithelial(86;0.000113)|BRCA - Breast invasive adenocarcinoma(302;0.202)	8	837	-	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		236			CCHC-type.		Q7L2P6|Q8N2K5|Q96SK7|Q9NSS2|Q9NSS3	Missense_Mutation	SNP	ENST00000336229.4	37	c.706G>C		.	.	.	.	.	.	.	.	.	.	C	26.3	4.720573	0.89205	.	.	ENSG00000033030	ENST00000336229	T	0.51071	0.72	5.48	5.48	0.80851	Zinc finger, CCHC retroviral-type (1);Zinc finger, CCHC-type (3);	0.297804	0.41500	D	0.000863	T	0.60650	0.2285	L	0.50333	1.59	0.54753	D	0.999987	D	0.55385	0.971	P	0.57057	0.812	T	0.61008	-0.7149	10	0.56958	D	0.05	-12.9107	19.3374	0.94324	0.0:1.0:0.0:0.0	.	236	Q6NZY4	ZCHC8_HUMAN	Q	236	ENSP00000337313:E236Q	ENSP00000337313:E236Q	E	-	1	0	ZCCHC8	121533161	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.845000	0.62853	2.578000	0.87016	0.455000	0.32223	GAA		0.289	ZCCHC8-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_017612		14	44	0	0	0	0	14	44				
KNTC1	9735	broad.mit.edu	37	12	123014683	123014683	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr12:123014683G>C	ENST00000333479.7	+	2	250	c.73G>C	c.(73-75)Gaa>Caa	p.E25Q	KNTC1_ENST00000450485.2_Missense_Mutation_p.E25Q	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN	kinetochore associated 1	25					mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|protein complex assembly (GO:0006461)|regulation of exit from mitosis (GO:0007096)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle pole (GO:0000922)				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		TTCAAGAAAAGAACATGGAAC	0.383																																						uc001ucv.2		NA																	0				ovary(5)|kidney(3)|lung(1)|central_nervous_system(1)	10						c.(73-75)GAA>CAA		Rough Deal homolog, centromere/kinetochore							134.0	137.0	136.0					12																	123014683		1860	4110	5970	SO:0001583	missense	9735				cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole	protein binding	g.chr12:123014683G>C		CCDS45002.1	12q24.31	2013-01-17			ENSG00000184445	ENSG00000184445			17255	protein-coding gene	gene with protein product	"""rough deal homolog (Drosophila)"""	607363				11146660, 11590237	Standard	NM_014708		Approved	KIAA0166, ROD	uc001ucv.3	P50748	OTTHUMG00000168861	ENST00000333479.7:c.73G>C	12.37:g.123014683G>C	ENSP00000328236:p.Glu25Gln					KNTC1_uc010taf.1_Missense_Mutation_p.E25Q	p.E25Q	NM_014708	NP_055523	P50748	KNTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)	2	236	+	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		25					A7E2C4|B3KSG2	Missense_Mutation	SNP	ENST00000333479.7	37	c.73G>C	CCDS45002.1	.	.	.	.	.	.	.	.	.	.	G	14.88	2.668743	0.47677	.	.	ENSG00000184445	ENST00000450485;ENST00000333479	T;T	0.49720	0.77;1.55	5.36	4.46	0.54185	.	0.057139	0.64402	D	0.000002	T	0.59595	0.2205	L	0.36672	1.1	0.80722	D	1	D;D	0.89917	0.974;1.0	P;D	0.83275	0.522;0.996	T	0.63470	-0.6630	10	0.72032	D	0.01	-20.9914	15.3633	0.74499	0.0:0.0:0.8592:0.1408	.	25;25	E7ES84;P50748	.;KNTC1_HUMAN	Q	25	ENSP00000397992:E25Q;ENSP00000328236:E25Q	ENSP00000328236:E25Q	E	+	1	0	KNTC1	121580636	1.000000	0.71417	0.490000	0.27465	0.002000	0.02628	8.039000	0.88947	1.231000	0.43661	-0.282000	0.10007	GAA		0.383	KNTC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396110.2			34	113	0	0	0	0	34	113				
SBNO1	55206	broad.mit.edu	37	12	123782660	123782660	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr12:123782660G>A	ENST00000602398.1	-	31	4031	c.3904C>T	c.(3904-3906)Cgt>Tgt	p.R1302C	SBNO1_ENST00000602750.1_Missense_Mutation_p.R1301C|SBNO1_ENST00000267176.4_Missense_Mutation_p.R1301C|SBNO1_ENST00000420886.2_Missense_Mutation_p.R1302C			A3KN83	SBNO1_HUMAN	strawberry notch homolog 1 (Drosophila)	1302					regulation of transcription, DNA-templated (GO:0006355)					NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		TAATATGTACGGCAACGAAGA	0.413																																						uc010tap.1		NA																	0				breast(5)|skin(2)|ovary(1)|kidney(1)	9						c.(3904-3906)CGT>TGT		sno, strawberry notch homolog 1							129.0	114.0	119.0					12																	123782660		2203	4300	6503	SO:0001583	missense	55206						ATP binding|DNA binding|hydrolase activity	g.chr12:123782660G>A	AK001563	CCDS9246.1, CCDS53844.1	12q24.31	2006-10-06	2006-10-06			ENSG00000139697			22973	protein-coding gene	gene with protein product		614274	"""sno, strawberry notch homolog 1 (Drosophila)"""				Standard	NM_018183		Approved	MOP3, FLJ10701, FLJ10833, Sno	uc010tap.2	A3KN83		ENST00000602398.1:c.3904C>T	12.37:g.123782660G>A	ENSP00000473665:p.Arg1302Cys					SBNO1_uc009zxv.2_RNA|SBNO1_uc010tao.1_Missense_Mutation_p.R1301C|SBNO1_uc010taq.1_Missense_Mutation_p.R253C	p.R1302C	NM_018183	NP_060653	A3KN83	SBNO1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)	30	3904	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		1302					Q05C06|Q3ZTS3|Q9H3T8|Q9NVB2	Missense_Mutation	SNP	ENST00000602398.1	37	c.3904C>T	CCDS53844.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.220086	0.79464	.	.	ENSG00000139697	ENST00000420886;ENST00000267176	D;D	0.84516	-1.86;-1.86	6.03	6.03	0.97812	.	0.000000	0.64402	D	0.000001	D	0.90174	0.6929	M	0.78916	2.43	0.80722	D	1	D;D	0.69078	0.994;0.997	P;P	0.54100	0.556;0.742	D	0.90831	0.4716	10	0.72032	D	0.01	-3.121	16.8325	0.85948	0.0:0.0:0.871:0.129	.	1302;1301	A3KN83;A3KN83-2	SBNO1_HUMAN;.	C	1302;1301	ENSP00000387361:R1302C;ENSP00000267176:R1301C	ENSP00000267176:R1301C	R	-	1	0	SBNO1	122348613	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	4.007000	0.57093	2.880000	0.98712	0.650000	0.86243	CGT		0.413	SBNO1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000467684.1	NM_018183		35	78	0	0	0	0	35	78				
SBNO1	55206	broad.mit.edu	37	12	123810857	123810857	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr12:123810857G>A	ENST00000602398.1	-	14	1844	c.1717C>T	c.(1717-1719)Cag>Tag	p.Q573*	SBNO1_ENST00000602750.1_Nonsense_Mutation_p.Q572*|SBNO1_ENST00000267176.4_Nonsense_Mutation_p.Q572*|SBNO1_ENST00000420886.2_Nonsense_Mutation_p.Q573*			A3KN83	SBNO1_HUMAN	strawberry notch homolog 1 (Drosophila)	573					regulation of transcription, DNA-templated (GO:0006355)					NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		GCAGCTTGCTGAAACCGCTCT	0.403																																						uc010tap.1		NA																	0				breast(5)|skin(2)|ovary(1)|kidney(1)	9						c.(1717-1719)CAG>TAG		sno, strawberry notch homolog 1							146.0	133.0	138.0					12																	123810857		2203	4300	6503	SO:0001587	stop_gained	55206						ATP binding|DNA binding|hydrolase activity	g.chr12:123810857G>A	AK001563	CCDS9246.1, CCDS53844.1	12q24.31	2006-10-06	2006-10-06			ENSG00000139697			22973	protein-coding gene	gene with protein product		614274	"""sno, strawberry notch homolog 1 (Drosophila)"""				Standard	NM_018183		Approved	MOP3, FLJ10701, FLJ10833, Sno	uc010tap.2	A3KN83		ENST00000602398.1:c.1717C>T	12.37:g.123810857G>A	ENSP00000473665:p.Gln573*					SBNO1_uc010tao.1_Nonsense_Mutation_p.Q572*|SBNO1_uc010taq.1_Intron|SBNO1_uc001uet.2_Nonsense_Mutation_p.Q573*|SBNO1_uc001ueu.2_Nonsense_Mutation_p.Q572*|SBNO1_uc001uev.2_Nonsense_Mutation_p.Q571*|SBNO1_uc009zxy.1_Nonsense_Mutation_p.Q538*	p.Q573*	NM_018183	NP_060653	A3KN83	SBNO1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)	13	1717	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		573					Q05C06|Q3ZTS3|Q9H3T8|Q9NVB2	Nonsense_Mutation	SNP	ENST00000602398.1	37	c.1717C>T	CCDS53844.1	.	.	.	.	.	.	.	.	.	.	G	39	7.405289	0.98262	.	.	ENSG00000139697	ENST00000420886;ENST00000267176;ENST00000442601	.	.	.	6.07	6.07	0.98685	.	0.059157	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.14252	T	0.57	-15.4926	20.6593	0.99626	0.0:0.0:1.0:0.0	.	.	.	.	X	573;572;572	.	ENSP00000267176:Q572X	Q	-	1	0	SBNO1	122376810	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.577000	0.82486	2.885000	0.99019	0.655000	0.94253	CAG		0.403	SBNO1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000467684.1	NM_018183		20	175	0	0	0	0	20	175				
GJB6	10804	broad.mit.edu	37	13	20797248	20797248	+	Silent	SNP	C	C	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr13:20797248C>T	ENST00000356192.6	-	5	992	c.372G>A	c.(370-372)caG>caA	p.Q124Q	GJB6_ENST00000241124.6_Silent_p.Q124Q|GJB6_ENST00000400065.3_Silent_p.Q124Q|GJB6_ENST00000400066.3_Silent_p.Q124Q	NM_001110219.2	NP_001103689.1	O95452	CXB6_HUMAN	gap junction protein, beta 6, 30kDa	124				Q -> H (in Ref. 1; CAA06611). {ECO:0000305}.	apoptotic process (GO:0006915)|cell communication (GO:0007154)|ear morphogenesis (GO:0042471)|inner ear development (GO:0048839)|negative regulation of cell proliferation (GO:0008285)|sensory perception of sound (GO:0007605)	apical plasma membrane (GO:0016324)|connexon complex (GO:0005922)|cytosol (GO:0005829)|integral component of membrane (GO:0016021)				biliary_tract(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)	9		all_cancers(29;2.04e-22)|all_epithelial(30;1.19e-19)|all_lung(29;2.27e-18)|Lung SC(185;0.0257)|Ovarian(182;0.0822)		all cancers(112;2.17e-05)|Epithelial(112;0.00075)|OV - Ovarian serous cystadenocarcinoma(117;0.00978)|Lung(94;0.0238)|GBM - Glioblastoma multiforme(144;0.0323)|LUSC - Lung squamous cell carcinoma(192;0.0744)		TCCGAACCTTCTGCTTTTTAA	0.463																																						uc001umz.3		NA																	0				ovary(1)	1						c.(370-372)CAG>CAA		gap junction protein, beta 6							85.0	73.0	77.0					13																	20797248		2203	4300	6503	SO:0001819	synonymous_variant	10804				cell communication|sensory perception of sound	connexon complex|integral to membrane|intracellular membrane-bounded organelle		g.chr13:20797248C>T	AJ005585	CCDS9291.1	13q12	2010-01-06	2007-11-06		ENSG00000121742	ENSG00000121742		"""Ion channels / Gap junction proteins (connexins)"""	4288	protein-coding gene	gene with protein product	"""connexin 30"""	604418	"""ectodermal dysplasia 2, hidrotic (Clouston syndrome)"", ""gap junction protein, beta 6 (connexin 30)"", ""gap junction protein, beta 6"""	DFNA3, ED2		10471490, 8845850	Standard	NM_006783		Approved	EDH, HED, CX30	uc001und.4	O95452	OTTHUMG00000016515	ENST00000356192.6:c.372G>A	13.37:g.20797248C>T						GJB6_uc001unc.3_Silent_p.Q124Q|GJB6_uc001una.3_Silent_p.Q124Q|GJB6_uc001und.3_Silent_p.Q124Q|GJB6_uc001unb.3_Silent_p.Q124Q	p.Q124Q	NM_006783	NP_006774	O95452	CXB6_HUMAN		all cancers(112;2.17e-05)|Epithelial(112;0.00075)|OV - Ovarian serous cystadenocarcinoma(117;0.00978)|Lung(94;0.0238)|GBM - Glioblastoma multiforme(144;0.0323)|LUSC - Lung squamous cell carcinoma(192;0.0744)	3	925	-		all_cancers(29;2.04e-22)|all_epithelial(30;1.19e-19)|all_lung(29;2.27e-18)|Lung SC(185;0.0257)|Ovarian(182;0.0822)	124	Q -> H (in Ref. 1; CAA06611).		Cytoplasmic (Potential).		B3KQN2|Q5Q1H9|Q5Q1I0|Q5Q1I1|Q5T5U0|Q8IUP0	Silent	SNP	ENST00000356192.6	37	c.372G>A	CCDS9291.1																																																																																				0.463	GJB6-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272906.1			15	48	0	0	0	0	15	48				
FLT1	2321	broad.mit.edu	37	13	29001376	29001376	+	Silent	SNP	C	C	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr13:29001376C>A	ENST00000282397.4	-	10	1607	c.1356G>T	c.(1354-1356)ctG>ctT	p.L452L	FLT1_ENST00000541932.1_Silent_p.L452L|FLT1_ENST00000539099.1_Silent_p.L452L	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	452	Ig-like C2-type 5.				blood vessel morphogenesis (GO:0048514)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic morphogenesis (GO:0048598)|monocyte chemotaxis (GO:0002548)|patterning of blood vessels (GO:0001569)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor receptor-1 signaling pathway (GO:0036323)|vascular endothelial growth factor signaling pathway (GO:0038084)	endosome (GO:0005768)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|placental growth factor-activated receptor activity (GO:0036332)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)|VEGF-A-activated receptor activity (GO:0036326)|VEGF-B-activated receptor activity (GO:0036327)			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	CGGTACAAGTCAGGATTTGTC	0.488																																						uc001usb.3		NA																	0				lung(10)|central_nervous_system(5)|ovary(3)|stomach(2)|skin(2)|urinary_tract(1)|breast(1)	24						c.(1354-1356)CTG>CTT		fms-related tyrosine kinase 1 isoform 1	Sunitinib(DB01268)						158.0	136.0	144.0					13																	29001376		2203	4300	6503	SO:0001819	synonymous_variant	2321				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity	g.chr13:29001376C>A	AF063657	CCDS9330.1, CCDS53860.1, CCDS53861.1, CCDS73556.1	13q12	2014-09-17	2012-11-19		ENSG00000102755	ENSG00000102755	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3763	protein-coding gene	gene with protein product	"""vascular endothelial growth factor receptor 1"", ""vascular permeability factor receptor"""	165070	"""fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability factor receptor)"""	FLT		2158038	Standard	NM_001159920		Approved	VEGFR1	uc001usb.3	P17948	OTTHUMG00000016648	ENST00000282397.4:c.1356G>T	13.37:g.29001376C>A						FLT1_uc010aar.1_Silent_p.L452L|FLT1_uc001usc.3_Silent_p.L452L|FLT1_uc010tdp.1_Silent_p.L452L	p.L452L	NM_002019	NP_002010	P17948	VGFR1_HUMAN	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	10	1641	-	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	452			Ig-like C2-type 5.|Extracellular (Potential).		A3E342|A3E344|A8KA71|B0LPF1|B2BF46|B2BF47|B2BF48|B3FR89|B5A923|F5H5L6|O60722|P16057|Q12954	Silent	SNP	ENST00000282397.4	37	c.1356G>T	CCDS9330.1																																																																																				0.488	FLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044322.1			18	61	1	0	9.17e-09	9.64e-09	18	61				
KATNAL1	84056	broad.mit.edu	37	13	30804674	30804674	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr13:30804674G>A	ENST00000380615.3	-	8	1110	c.943C>T	c.(943-945)Cga>Tga	p.R315*	KATNAL1_ENST00000380617.3_Nonsense_Mutation_p.R315*	NM_032116.4	NP_115492.1			katanin p60 subunit A-like 1											autonomic_ganglia(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|skin(1)|urinary_tract(3)	19		Lung SC(185;0.0257)		all cancers(112;0.114)|OV - Ovarian serous cystadenocarcinoma(117;0.213)		GTTCCTCTTCGACTGCAGATA	0.348																																						uc001uss.2		NA																	0					0						c.(943-945)CGA>TGA		katanin p60 subunit A-like 1							76.0	73.0	74.0					13																	30804674		2203	4300	6503	SO:0001587	stop_gained	84056					cytoplasm|microtubule	ATP binding|microtubule-severing ATPase activity	g.chr13:30804674G>A	AK097423	CCDS31956.1	13q12.3	2010-04-21			ENSG00000102781	ENSG00000102781		"""ATPases / AAA-type"""	28361	protein-coding gene	gene with protein product		614764				12477932	Standard	NM_001014380		Approved	MGC2599	uc001uss.4	Q9BW62	OTTHUMG00000016665	ENST00000380615.3:c.943C>T	13.37:g.30804674G>A	ENSP00000369989:p.Arg315*					KATNAL1_uc001ust.2_Nonsense_Mutation_p.R315*	p.R315*	NM_001014380	NP_001014402	Q9BW62	KATL1_HUMAN		all cancers(112;0.114)|OV - Ovarian serous cystadenocarcinoma(117;0.213)	8	1044	-		Lung SC(185;0.0257)	315						Nonsense_Mutation	SNP	ENST00000380615.3	37	c.943C>T	CCDS31956.1	.	.	.	.	.	.	.	.	.	.	G	38	6.723753	0.97792	.	.	ENSG00000102781	ENST00000380615;ENST00000380617	.	.	.	5.46	4.6	0.57074	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.7927	15.3791	0.74637	0.0:0.0:0.8594:0.1406	.	.	.	.	X	315	.	ENSP00000369989:R315X	R	-	1	2	KATNAL1	29702674	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.355000	0.59424	1.244000	0.43870	0.591000	0.81541	CGA		0.348	KATNAL1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044346.2	NM_032116		6	40	0	0	0	0	6	40				
POSTN	10631	broad.mit.edu	37	13	38154776	38154776	+	Missense_Mutation	SNP	G	G	A	rs145787730		TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr13:38154776G>A	ENST00000379747.4	-	11	1568	c.1451C>T	c.(1450-1452)gCg>gTg	p.A484V	POSTN_ENST00000379743.4_Missense_Mutation_p.A484V|POSTN_ENST00000379749.4_Missense_Mutation_p.A484V|POSTN_ENST00000379742.4_Missense_Mutation_p.A484V|POSTN_ENST00000541481.1_Missense_Mutation_p.A484V|POSTN_ENST00000541179.1_Missense_Mutation_p.A484V	NM_006475.2	NP_006466.2	Q15063	POSTN_HUMAN	periostin, osteoblast specific factor	484	FAS1 3. {ECO:0000255|PROSITE- ProRule:PRU00082, ECO:0000305}.				cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of Notch signaling pathway (GO:0008593)|skeletal system development (GO:0001501)|tissue development (GO:0009888)	proteinaceous extracellular matrix (GO:0005578)|trans-Golgi network (GO:0005802)	heparin binding (GO:0008201)			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	59		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)		TATGTGAATCGCACCGTTTCT	0.443													G|||	1	0.000199681	0.0	0.0	5008	,	,		17302	0.0		0.001	False		,,,				2504	0.0					uc001uwo.3		NA																	0				ovary(2)	2						c.(1450-1452)GCG>GTG		periostin, osteoblast specific factor isoform 1		G	VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA	0,4406		0,0,2203	302.0	276.0	285.0		1451,1451,1451,1451	4.2	1.0	13	dbSNP_134	285	15,8585	11.2+/-40.8	0,15,4285	yes	missense,missense,missense,missense	POSTN	NM_001135934.1,NM_001135935.1,NM_001135936.1,NM_006475.2	64,64,64,64	0,15,6488	AA,AG,GG		0.1744,0.0,0.1153	probably-damaging,probably-damaging,probably-damaging,probably-damaging	484/780,484/782,484/752,484/837	38154776	15,12991	2203	4300	6503	SO:0001583	missense	10631				cell adhesion|skeletal system development	proteinaceous extracellular matrix	heparin binding	g.chr13:38154776G>A	D13665	CCDS9364.1, CCDS45034.1, CCDS53864.1, CCDS66530.1, CCDS66531.1	13q13.3	2008-02-05			ENSG00000133110	ENSG00000133110			16953	protein-coding gene	gene with protein product		608777				8363580, 12235007	Standard	NM_006475		Approved	OSF-2, PN, periostin	uc001uwo.4	Q15063	OTTHUMG00000016751	ENST00000379747.4:c.1451C>T	13.37:g.38154776G>A	ENSP00000369071:p.Ala484Val					POSTN_uc010tet.1_Missense_Mutation_p.A12V|POSTN_uc001uwp.3_Missense_Mutation_p.A484V|POSTN_uc001uwr.2_Missense_Mutation_p.A484V|POSTN_uc001uwq.2_Missense_Mutation_p.A484V|POSTN_uc010teu.1_Missense_Mutation_p.A484V|POSTN_uc010tev.1_Missense_Mutation_p.A484V|POSTN_uc010tew.1_Missense_Mutation_p.A484V|POSTN_uc010tex.1_Missense_Mutation_p.A399V	p.A484V	NM_006475	NP_006466	Q15063	POSTN_HUMAN		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)	11	1569	-		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)	484			FAS1 3.		B1ALD8|C0IMJ1|C0IMJ2|C0IMJ4|D2KRH7|F5H628|Q15064|Q29XZ0|Q3KPJ5|Q5VSY5|Q8IZF9	Missense_Mutation	SNP	ENST00000379747.4	37	c.1451C>T	CCDS9364.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	12.05	1.821520	0.32237	0.0	0.001744	ENSG00000133110	ENST00000541179;ENST00000379749;ENST00000379747;ENST00000379743;ENST00000379742;ENST00000541481	D;D;D;D;D;D	0.86432	-2.12;-2.12;-2.12;-2.12;-2.12;-2.12	5.03	4.18	0.49190	FAS1 domain (6);	0.102181	0.64402	D	0.000003	T	0.80854	0.4703	N	0.17474	0.49	0.41103	D	0.985681	D;D;D;D;D;B;D	0.60160	0.987;0.971;0.986;0.984;0.98;0.334;0.986	P;B;P;B;B;B;P	0.57057	0.535;0.399;0.812;0.399;0.32;0.092;0.812	T	0.77814	-0.2448	10	0.02654	T	1	-11.1047	8.6814	0.34212	0.2244:0.0:0.7756:0.0	.	484;484;484;484;484;484;484	C0IMJ4;F5H628;B1ALD8;Q15063-3;Q15063-4;Q15063-2;Q15063	.;.;.;.;.;.;POSTN_HUMAN	V	484	ENSP00000437959:A484V;ENSP00000369073:A484V;ENSP00000369071:A484V;ENSP00000369067:A484V;ENSP00000369066:A484V;ENSP00000437953:A484V	ENSP00000369066:A484V	A	-	2	0	POSTN	37052776	1.000000	0.71417	0.963000	0.40424	0.164000	0.22412	7.015000	0.76387	1.232000	0.43678	0.563000	0.77884	GCG		0.443	POSTN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044566.2	NM_006475		22	145	0	0	0	0	22	145				
FREM2	341640	broad.mit.edu	37	13	39450265	39450265	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr13:39450265G>C	ENST00000280481.7	+	19	8604	c.8388G>C	c.(8386-8388)tgG>tgC	p.W2796C		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	2796					cell communication (GO:0007154)|homophilic cell adhesion (GO:0007156)|inner ear development (GO:0048839)|morphogenesis of an epithelium (GO:0002009)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		TACAGCAGTGGAGCTTTGTCT	0.418																																						uc001uwv.2		NA																	0				ovary(7)|pancreas(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	11						c.(8386-8388)TGG>TGC		FRAS1-related extracellular matrix protein 2							185.0	175.0	179.0					13																	39450265		2203	4300	6503	SO:0001583	missense	341640				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr13:39450265G>C	BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893			25396	protein-coding gene	gene with protein product		608945				15345741	Standard	NM_207361		Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.8388G>C	13.37:g.39450265G>C	ENSP00000280481:p.Trp2796Cys						p.W2796C	NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)	19	8697	+		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)	2796			Extracellular (Potential).		Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Missense_Mutation	SNP	ENST00000280481.7	37	c.8388G>C	CCDS31960.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.597898	0.87055	.	.	ENSG00000150893	ENST00000280481	T	0.66638	-0.22	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	D	0.85745	0.5768	M	0.89095	3.005	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.87437	0.2392	10	0.87932	D	0	.	20.0693	0.97712	0.0:0.0:1.0:0.0	.	2796	Q5SZK8	FREM2_HUMAN	C	2796	ENSP00000280481:W2796C	ENSP00000280481:W2796C	W	+	3	0	FREM2	38348265	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	9.835000	0.99442	2.758000	0.94735	0.563000	0.77884	TGG		0.418	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044599.2	NM_207361		27	150	0	0	0	0	27	150				
NAA16	79612	broad.mit.edu	37	13	41894879	41894879	+	Silent	SNP	C	C	G			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr13:41894879C>G	ENST00000379406.3	+	4	645	c.321C>G	c.(319-321)ctC>ctG	p.L107L	NAA16_ENST00000379367.3_Silent_p.L107L|NAA16_ENST00000403412.3_Silent_p.L107L	NM_024561.4	NP_078837.3	Q6N069	NAA16_HUMAN	N(alpha)-acetyltransferase 16, NatA auxiliary subunit	107					N-terminal protein amino acid acetylation (GO:0006474)|negative regulation of apoptotic process (GO:0043066)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|NatA complex (GO:0031415)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ribosome binding (GO:0043022)			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|urinary_tract(2)	31						GAAATGCCCTCAAATTAGATA	0.358																																						uc001uyf.2		NA																	0				central_nervous_system(1)	1						c.(319-321)CTC>CTG		NMDA receptor regulated 1-like protein isoform							80.0	79.0	79.0					13																	41894879		2203	4300	6503	SO:0001819	synonymous_variant	79612				N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent	cytoplasm|transcription factor complex	binding	g.chr13:41894879C>G	AL833341	CCDS9379.1, CCDS45044.1	13q14.11	2013-01-10	2010-01-14	2010-01-14	ENSG00000172766	ENSG00000172766		"""N(alpha)-acetyltransferase subunits"", ""Tetratricopeptide (TTC) repeat domain containing"""	26164	protein-coding gene	gene with protein product			"""NMDA receptor regulated 1-like"""	NARG1L		11483580, 19660095	Standard	NM_024561		Approved	FLJ22054, MGC40612, PRO2435	uc001uyf.2	Q6N069	OTTHUMG00000016791	ENST00000379406.3:c.321C>G	13.37:g.41894879C>G						NAA16_uc010tfg.1_RNA|NAA16_uc001uye.3_Silent_p.L107L|NAA16_uc001uyd.3_Silent_p.L107L	p.L107L	NM_024561	NP_078837	Q6N069	NAA16_HUMAN			4	645	+			107			TPR 2.		B0QZ59|Q5VSP9|Q6P2D5|Q8N5J3|Q8N870	Silent	SNP	ENST00000379406.3	37	c.321C>G	CCDS9379.1																																																																																				0.358	NAA16-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044672.2	NM_018527		3	71	0	0	0	0	3	71				
CPB2	1361	broad.mit.edu	37	13	46629983	46629983	+	Splice_Site	SNP	G	G	C			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr13:46629983G>C	ENST00000181383.4	-	10	1017	c.1001C>G	c.(1000-1002)tCt>tGt	p.S334C	CPB2-AS1_ENST00000606991.1_RNA|CPB2-AS1_ENST00000606351.1_RNA|CPB2-AS1_ENST00000606243.1_RNA|CPB2-AS1_ENST00000415033.2_RNA|CPB2_ENST00000439329.3_Splice_Site_p.S297C	NM_001872.3	NP_001863.3	Q96IY4	CBPB2_HUMAN	carboxypeptidase B2 (plasma)	334					blood coagulation (GO:0007596)|cellular response to glucose stimulus (GO:0071333)|fibrinolysis (GO:0042730)|liver regeneration (GO:0097421)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of plasminogen activation (GO:0010757)|positive regulation of extracellular matrix constituent secretion (GO:0003331)|proteolysis (GO:0006508)|response to drug (GO:0042493)|response to heat (GO:0009408)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			NS(1)|cervix(1)|large_intestine(3)|liver(1)|lung(9)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Lung NSC(96;4.21e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|all_neural(104;0.235)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.44e-05)		GGCTACTAGAGACTGGAAGCA	0.333																																						uc001vaw.2		NA																	0				ovary(1)|skin(1)	2						c.(1000-1002)TCT>TGT		plasma carboxypeptidase B2 isoform a							75.0	76.0	76.0					13																	46629983		2203	4299	6502	SO:0001630	splice_region_variant	1361				blood coagulation|fibrinolysis|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding	g.chr13:46629983G>C	M75106	CCDS9401.1, CCDS73568.1	13q14.11	2012-02-10	2007-02-21		ENSG00000080618	ENSG00000080618			2300	protein-coding gene	gene with protein product	"""thrombin-activatable fibrinolysis inhibitor"", ""carboxypeptidase U"", ""plasma carboxypeptidase B"", ""carboxypeptidase R"""	603101	"""carboxypeptidase B2 (plasma, carboxypeptidase U)"""			1939207, 1427879	Standard	NM_001278541		Approved	CPU, PCPB, TAFI	uc001vaw.3	Q96IY4	OTTHUMG00000016867	ENST00000181383.4:c.1000-1C>G	13.37:g.46629983G>C						uc001vau.1_Intron|uc001vav.1_Intron|CPB2_uc001vax.2_Missense_Mutation_p.S297C	p.S334C	NM_001872	NP_001863	Q96IY4	CBPB2_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.44e-05)	10	1068	-		Lung NSC(96;4.21e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|all_neural(104;0.235)	334					A8K464|Q15114|Q5T9K1|Q5T9K2|Q9P2Y6	Missense_Mutation	SNP	ENST00000181383.4	37	c.1001C>G	CCDS9401.1	.	.	.	.	.	.	.	.	.	.	G	17.60	3.430805	0.62844	.	.	ENSG00000080618	ENST00000181383;ENST00000439329	T;T	0.11604	2.76;2.76	5.68	5.68	0.88126	Peptidase M14, carboxypeptidase A (2);	0.284540	0.40385	N	0.001108	T	0.25419	0.0618	M	0.67397	2.05	0.35199	D	0.774066	D;D	0.71674	0.997;0.998	P;P	0.61722	0.893;0.89	T	0.16305	-1.0407	10	0.39692	T	0.17	.	10.6695	0.45749	0.0864:0.0:0.9136:0.0	.	297;334	Q96IY4-2;Q96IY4	.;CBPB2_HUMAN	C	334;297	ENSP00000181383:S334C;ENSP00000400714:S297C	ENSP00000181383:S334C	S	-	2	0	CPB2	45527984	0.932000	0.31603	1.000000	0.80357	0.975000	0.68041	1.562000	0.36353	2.669000	0.90835	0.561000	0.74099	TCT		0.333	CPB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044803.2	NM_001872	Missense_Mutation	16	72	0	0	0	0	16	72				
RBM26	64062	broad.mit.edu	37	13	79911392	79911392	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr13:79911392G>A	ENST00000438737.2	-	19	3018	c.2578C>T	c.(2578-2580)Cat>Tat	p.H860Y	RBM26_ENST00000438724.1_Missense_Mutation_p.H836Y|RBM26_ENST00000267229.7_Missense_Mutation_p.H833Y			Q5T8P6	RBM26_HUMAN	RNA binding motif protein 26	860					mRNA processing (GO:0006397)|negative regulation of phosphatase activity (GO:0010923)		metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33		Acute lymphoblastic leukemia(28;0.0279)		GBM - Glioblastoma multiforme(99;0.0188)		CCTCTTGAATGAATTCCTCTG	0.547																																						uc001vkz.2		NA																	0				ovary(1)	1						c.(2584-2586)CAT>TAT		RNA binding motif protein 26							106.0	93.0	97.0					13																	79911392		2203	4300	6503	SO:0001583	missense	64062				mRNA processing		nucleotide binding|protein binding|RNA binding|zinc ion binding	g.chr13:79911392G>A	AF116667	CCDS9462.1, CCDS66566.1, CCDS73591.1	13q31.1	2014-06-13	2006-06-22	2006-06-22	ENSG00000139746	ENSG00000139746		"""Zinc fingers, CCCH-type domain containing"", ""RNA binding motif (RRM) containing"""	20327	protein-coding gene	gene with protein product	"""acidic rich RS domain containing 2"", ""protein phosphatase 1, regulatory 132"""		"""chromosome 13 open reading frame 10"""	C13orf10		11149944, 15741184	Standard	XM_005266497		Approved	PRO1777, SE70-2, FLJ20957, ZC3H17, ARRS2, PPP1R132	uc001vky.2	Q5T8P6	OTTHUMG00000017133	ENST00000438737.2:c.2578C>T	13.37:g.79911392G>A	ENSP00000387531:p.His860Tyr					RBM26_uc001vky.2_Missense_Mutation_p.H833Y|RBM26_uc001vla.2_Missense_Mutation_p.H836Y|RBM26_uc010tia.1_Missense_Mutation_p.H217Y|RBM26_uc001vkx.2_Missense_Mutation_p.H572Y	p.H862Y	NM_022118	NP_071401	Q5T8P6	RBM26_HUMAN		GBM - Glioblastoma multiforme(99;0.0188)	19	2598	-		Acute lymphoblastic leukemia(28;0.0279)	860					B4DZE0|Q2NKM2|Q2NKQ2|Q5CZH8|Q5T8P5|Q5T8P8|Q5U5P5|Q5W0G7|Q8N3H5|Q96K92|Q96SZ3|Q9H2F8|Q9H7F9|Q9P1G7	Missense_Mutation	SNP	ENST00000438737.2	37	c.2584C>T		.	.	.	.	.	.	.	.	.	.	G	13.89	2.372819	0.42105	.	.	ENSG00000139746	ENST00000449987;ENST00000267229;ENST00000438737;ENST00000327303;ENST00000438724	D;D	0.91237	-2.81;-2.81	4.9	4.9	0.64082	.	0.229375	0.43579	D	0.000550	D	0.89722	0.6797	L	0.52573	1.65	0.54753	D	0.999981	P;P;P;P	0.51933	0.728;0.949;0.915;0.949	B;P;B;P	0.45610	0.182;0.487;0.292;0.487	D	0.89228	0.3575	9	.	.	.	-17.7159	18.4403	0.90664	0.0:0.0:1.0:0.0	.	217;836;860;833	B4DZH7;Q5T8P6-2;Q5T8P6;Q5T8P6-3	.;.;RBM26_HUMAN;.	Y	46;833;861;860;836	ENSP00000267229:H833Y;ENSP00000390222:H836Y	.	H	-	1	0	RBM26	78809393	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.284000	0.72652	2.421000	0.82119	0.650000	0.86243	CAT		0.547	RBM26-004	NOVEL	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000045373.4	NM_022118		4	100	0	0	0	0	4	100				
ABCC4	10257	broad.mit.edu	37	13	95858999	95858999	+	Silent	SNP	G	G	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr13:95858999G>A	ENST00000376887.4	-	8	1062	c.948C>T	c.(946-948)ctC>ctT	p.L316L	ABCC4_ENST00000538287.1_3'UTR|ABCC4_ENST00000431522.1_Silent_p.L316L|ABCC4_ENST00000412704.1_Silent_p.L316L|ABCC4_ENST00000536256.1_Silent_p.L241L	NM_005845.3	NP_005836.2	O15439	MRP4_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 4	316	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				blood coagulation (GO:0007596)|oxidation-reduction process (GO:0055114)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of smooth muscle cell proliferation (GO:0048661)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|response to organonitrogen compound (GO:0010243)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense granule membrane (GO:0031088)	15-hydroxyprostaglandin dehydrogenase (NAD+) activity (GO:0016404)|ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Adefovir Dipivoxil(DB00718)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Cefazolin(DB01327)|Celecoxib(DB00482)|Conjugated Estrogens(DB00286)|Diclofenac(DB00586)|Dinoprostone(DB00917)|Dipyridamole(DB00975)|Fluorouracil(DB00544)|Flurbiprofen(DB00712)|Folic Acid(DB00158)|Gadoxetate(DB08884)|Glutathione(DB00143)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Lamivudine(DB00709)|Leucovorin(DB00650)|Meloxicam(DB00814)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Nateglinide(DB00731)|Oseltamivir(DB00198)|Probenecid(DB01032)|Rosuvastatin(DB01098)|Sildenafil(DB00203)|Sorafenib(DB00398)|Sulfinpyrazone(DB01138)|Sunitinib(DB01268)|Tenofovir(DB00300)|Tioguanine(DB00352)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)|Zidovudine(DB00495)	TCATCCCTCTGAGGCAGGAAC	0.463																																						uc001vmd.3		NA																	0				central_nervous_system(3)|skin(1)	4						c.(946-948)CTC>CTT		ATP-binding cassette, sub-family C, member 4	Cefazolin(DB01327)						154.0	153.0	154.0					13																	95858999		2203	4300	6503	SO:0001819	synonymous_variant	10257				platelet activation|platelet degranulation	integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane	15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity	g.chr13:95858999G>A	U66682	CCDS9474.1	13q31	2012-03-14			ENSG00000125257	ENSG00000125257		"""ATP binding cassette transporters / subfamily C"""	55	protein-coding gene	gene with protein product	"""canalicular multispecific organic anion transporter (ABC superfamily)"", ""bA464I2.1 (ATP-binding cassette, sub-family C (CFTR/MRP), member 4)"", ""multidrug resistance-associated protein 4"", ""multispecific organic anion transporter B"""	605250				8894702, 9661885	Standard	NM_005845		Approved	MRP4, EST170205, MOAT-B, MOATB	uc001vmd.4	O15439	OTTHUMG00000017216	ENST00000376887.4:c.948C>T	13.37:g.95858999G>A						ABCC4_uc010afk.2_Silent_p.L316L|ABCC4_uc001vme.2_Silent_p.L316L|ABCC4_uc010tih.1_Silent_p.L241L|ABCC4_uc001vmf.2_Silent_p.L273L|ABCC4_uc010afl.1_Silent_p.L273L|ABCC4_uc010afm.1_Silent_p.L329L	p.L316L	NM_005845	NP_005836	O15439	MRP4_HUMAN			8	1067	-	all_neural(89;0.0878)|Medulloblastoma(90;0.163)		316			ABC transmembrane type-1 1.		A9Z1Z7|Q8IVZ4|Q8IZN6|Q8NEW8|Q9Y6J2	Silent	SNP	ENST00000376887.4	37	c.948C>T	CCDS9474.1																																																																																				0.463	ABCC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045478.2	NM_005845		21	220	0	0	0	0	21	220				
RAP2A	5911	broad.mit.edu	37	13	98086811	98086811	+	Silent	SNP	C	C	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr13:98086811C>T	ENST00000245304.4	+	1	336	c.87C>T	c.(85-87)atC>atT	p.I29I		NM_021033.6	NP_066361.1	P10114	RAP2A_HUMAN	RAP2A, member of RAS oncogene family	29					actin cytoskeleton reorganization (GO:0031532)|cellular protein localization (GO:0034613)|establishment of protein localization (GO:0045184)|negative regulation of cell migration (GO:0030336)|positive regulation of protein autophosphorylation (GO:0031954)|Rap protein signal transduction (GO:0032486)|regulation of dendrite morphogenesis (GO:0048814)|regulation of JNK cascade (GO:0046328)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|recycling endosome (GO:0055037)|recycling endosome membrane (GO:0055038)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.166)			GCACCTTCATCGAGAAATACG	0.642																																						uc001vnd.2		NA																	0				central_nervous_system(1)	1						c.(85-87)ATC>ATT		RAP2A, member of RAS oncogene family precursor							98.0	93.0	94.0					13																	98086811		2203	4300	6503	SO:0001819	synonymous_variant	5911				actin cytoskeleton reorganization|cellular protein localization|establishment of protein localization|positive regulation of protein autophosphorylation|Rap protein signal transduction|regulation of dendrite morphogenesis|regulation of JNK cascade	recycling endosome membrane	GTP binding|GTPase activity|protein binding	g.chr13:98086811C>T	AF205602	CCDS9485.1	13q34	2014-05-09			ENSG00000125249	ENSG00000125249			9861	protein-coding gene	gene with protein product		179540		RAP2			Standard	NM_021033		Approved	K-REV	uc001vnd.3	P10114	OTTHUMG00000017240	ENST00000245304.4:c.87C>T	13.37:g.98086811C>T							p.I29I	NM_021033	NP_066361	P10114	RAP2A_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.166)		1	337	+	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		29					B2RCJ1|Q5JSC1|Q5JSC2	Silent	SNP	ENST00000245304.4	37	c.87C>T	CCDS9485.1																																																																																				0.642	RAP2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045528.4			18	90	0	0	0	0	18	90				
TM9SF2	9375	broad.mit.edu	37	13	100204467	100204467	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr13:100204467G>A	ENST00000376387.4	+	13	1565	c.1375G>A	c.(1375-1377)Gaa>Aaa	p.E459K		NM_004800.1	NP_004791.1	Q99805	TM9S2_HUMAN	transmembrane 9 superfamily member 2	459					transport (GO:0006810)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)				endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(2)	17	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.218)					CCTCTGGGGAGAAGGATCTTC	0.423																																						uc001voj.1		NA																	0				ovary(1)	1						c.(1375-1377)GAA>AAA		transmembrane 9 superfamily member 2 precursor							162.0	148.0	152.0					13																	100204467		2203	4300	6503	SO:0001583	missense	9375				transport	endosome membrane|integral to plasma membrane		g.chr13:100204467G>A	U81006	CCDS9493.1	13q32.2	2011-03-28			ENSG00000125304	ENSG00000125304			11865	protein-coding gene	gene with protein product		604678				9729438	Standard	NM_004800		Approved	P76	uc001voj.2	Q99805	OTTHUMG00000017272	ENST00000376387.4:c.1375G>A	13.37:g.100204467G>A	ENSP00000365567:p.Glu459Lys					TM9SF2_uc010afz.1_Missense_Mutation_p.E294K	p.E459K	NM_004800	NP_004791	Q99805	TM9S2_HUMAN			13	1508	+	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.218)		459			Lumenal (Potential).		A8K399|Q2TAY5	Missense_Mutation	SNP	ENST00000376387.4	37	c.1375G>A	CCDS9493.1	.	.	.	.	.	.	.	.	.	.	G	13.95	2.389869	0.42410	.	.	ENSG00000125304	ENST00000376387	T	0.39997	1.05	5.74	5.74	0.90152	.	0.042488	0.85682	D	0.000000	T	0.25382	0.0617	N	0.10945	0.07	0.80722	D	1	B;B	0.10296	0.003;0.001	B;B	0.11329	0.006;0.004	T	0.17592	-1.0364	10	0.02654	T	1	-20.1368	19.983	0.97336	0.0:0.0:1.0:0.0	.	425;459	E9PHW5;Q99805	.;TM9S2_HUMAN	K	459	ENSP00000365567:E459K	ENSP00000365567:E459K	E	+	1	0	TM9SF2	99002468	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.903000	0.87398	2.728000	0.93425	0.650000	0.86243	GAA		0.423	TM9SF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045602.3			22	132	0	0	0	0	22	132				
PCCA	5095	broad.mit.edu	37	13	100764110	100764110	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr13:100764110C>G	ENST00000376285.1	+	3	237	c.199C>G	c.(199-201)Ctt>Gtt	p.L67V	PCCA_ENST00000376279.3_Missense_Mutation_p.L67V|PCCA_ENST00000376286.4_Missense_Mutation_p.L41V	NM_000282.3	NP_000273.2	P05165	PCCA_HUMAN	propionyl CoA carboxylase, alpha polypeptide	67	Biotin carboxylation.				biotin metabolic process (GO:0006768)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|short-chain fatty acid catabolic process (GO:0019626)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|propionyl-CoA carboxylase activity (GO:0004658)			breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|prostate(1)|skin(2)	26	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Biotin(DB00121)	TGATAAAATTCTTGTTGCTAA	0.303																																						uc001voo.2		NA																	0				skin(2)	2						c.(199-201)CTT>GTT		propionyl-Coenzyme A carboxylase, alpha	Biotin(DB00121)						41.0	43.0	42.0					13																	100764110		2202	4299	6501	SO:0001583	missense	5095				fatty acid beta-oxidation	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|enzyme binding|metal ion binding|propionyl-CoA carboxylase activity	g.chr13:100764110C>G	X14608	CCDS9496.2, CCDS45065.1, CCDS53878.1	13q32	2011-01-14	2010-04-30		ENSG00000175198	ENSG00000175198	6.4.1.3		8653	protein-coding gene	gene with protein product		232000	"""propionyl Coenzyme A carboxylase, alpha polypeptide"""			1427880	Standard	NM_000282		Approved		uc001voo.3	P05165	OTTHUMG00000017284	ENST00000376285.1:c.199C>G	13.37:g.100764110C>G	ENSP00000365462:p.Leu67Val					PCCA_uc010aga.2_Missense_Mutation_p.L41V|PCCA_uc010tiz.1_Missense_Mutation_p.L67V	p.L67V	NM_000282	NP_000273	P05165	PCCA_HUMAN			3	237	+	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		67			Biotin carboxylation.		B4DKY8|B4DPF9|C9JPQ8|Q15979|Q8WXQ7	Missense_Mutation	SNP	ENST00000376285.1	37	c.199C>G	CCDS9496.2	.	.	.	.	.	.	.	.	.	.	C	19.65	3.867541	0.72065	.	.	ENSG00000175198	ENST00000376286;ENST00000376279;ENST00000376285	D;D;D	0.96913	-4.17;-4.17;-4.17	5.83	5.83	0.93111	Pre-ATP-grasp fold (1);PreATP-grasp-like fold (1);Biotin carboxylation domain (1);Carbamoyl-phosphate synthase, large subunit, N-terminal (1);	0.149243	0.47093	D	0.000257	D	0.98720	0.9570	H	0.95917	3.74	0.58432	D	0.999999	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.97110	0.985;0.999;1.0	D	0.99331	1.0909	10	0.72032	D	0.01	.	14.9054	0.70715	0.1432:0.8567:0.0:0.0	.	67;41;67	C9JPQ8;P05165-2;P05165	.;.;PCCA_HUMAN	V	41;67;67	ENSP00000365463:L41V;ENSP00000365456:L67V;ENSP00000365462:L67V	ENSP00000365456:L67V	L	+	1	0	PCCA	99562111	1.000000	0.71417	0.998000	0.56505	0.989000	0.77384	5.017000	0.64047	2.758000	0.94735	0.655000	0.94253	CTT		0.303	PCCA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045627.2			9	24	0	0	0	0	9	24				
RBM23	55147	broad.mit.edu	37	14	23371581	23371581	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr14:23371581G>T	ENST00000359890.3	-	11	1136	c.941C>A	c.(940-942)tCt>tAt	p.S314Y	RBM23_ENST00000542016.2_Missense_Mutation_p.S144Y|RBM23_ENST00000555209.1_Missense_Mutation_p.S64Y|RBM23_ENST00000399922.2_Missense_Mutation_p.S298Y|RBM23_ENST00000346528.5_Missense_Mutation_p.S280Y	NM_001077351.1	NP_001070819.1	Q86U06	RBM23_HUMAN	RNA binding motif protein 23	314	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA processing (GO:0006397)	membrane (GO:0016020)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			endometrium(3)|kidney(2)|lung(3)|prostate(1)|skin(1)	10	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.0128)		GGCACACTCAGAATCAGAGAA	0.532																																						uc001whg.2		NA																	0				skin(1)	1						c.(940-942)TCT>TAT		RNA binding motif protein 23 isoform 1							46.0	46.0	46.0					14																	23371581		1947	4141	6088	SO:0001583	missense	55147				mRNA processing	nucleus	nucleotide binding|RNA binding	g.chr14:23371581G>T	AF275678	CCDS41919.1, CCDS41920.1, CCDS41921.1	14q11.1	2014-07-03	2004-04-23	2004-04-23		ENSG00000100461		"""RNA binding motif (RRM) containing"""	20155	protein-coding gene	gene with protein product	"""coactivator of activating protein-1 and estrogen recep- tors beta"""		"""RNA-binding region (RNP1, RRM) containing 4"""	RNPC4		15694343	Standard	NM_018107		Approved	FLJ10482, CAPERbeta	uc001whg.3	Q86U06		ENST00000359890.3:c.941C>A	14.37:g.23371581G>T	ENSP00000352956:p.Ser314Tyr					RBM23_uc001whh.2_Missense_Mutation_p.S298Y|RBM23_uc001whi.2_Missense_Mutation_p.S280Y|RBM23_uc010tne.1_Missense_Mutation_p.S144Y|RBM23_uc001whj.2_Missense_Mutation_p.S64Y	p.S314Y	NM_001077351	NP_001070819	Q86U06	RBM23_HUMAN		GBM - Glioblastoma multiforme(265;0.0128)	11	1140	-	all_cancers(95;4.69e-05)		314			RRM 2.		D3DS32|Q8ND16|Q8TB88|Q8WY40|Q9BUJ1|Q9NVV7	Missense_Mutation	SNP	ENST00000359890.3	37	c.941C>A	CCDS41921.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.12|12.12	1.842401|1.842401	0.32513|0.32513	.|.	.|.	ENSG00000100461|ENSG00000100461	ENST00000553884|ENST00000555209;ENST00000359890;ENST00000338980;ENST00000399922;ENST00000346528;ENST00000542016	.|D;D;D;D;D	.|0.85702	.|-2.02;-2.02;-2.02;-2.02;-2.02	4.6|4.6	3.7|3.7	0.42460|0.42460	.|Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	.|0.262321	.|0.26424	.|N	.|0.024449	D|D	0.87684|0.87684	0.6239|0.6239	L|L	0.38175|0.38175	1.15|1.15	0.34935|0.34935	D|D	0.74971|0.74971	.|D;D;D	.|0.64830	.|0.988;0.988;0.994	.|P;P;D	.|0.68943	.|0.796;0.796;0.961	D|D	0.91305|0.91305	0.5070|0.5070	5|10	.|0.66056	.|D	.|0.02	-0.7515|-0.7515	13.7107|13.7107	0.62667|0.62667	0.0:0.1561:0.8439:0.0|0.0:0.1561:0.8439:0.0	.|.	.|280;298;314	.|Q86U06-4;Q86U06-2;Q86U06	.|.;.;RBM23_HUMAN	L|Y	88|64;314;291;298;280;144	.|ENSP00000452602:S64Y;ENSP00000352956:S314Y;ENSP00000382806:S298Y;ENSP00000339220:S280Y;ENSP00000438504:S144Y	.|ENSP00000345496:S291Y	F|S	-|-	3|2	2|0	RBM23|RBM23	22441421|22441421	0.998000|0.998000	0.40836|0.40836	0.108000|0.108000	0.21378|0.21378	0.036000|0.036000	0.12997|0.12997	8.769000|8.769000	0.91742|0.91742	1.157000|1.157000	0.42530|0.42530	0.563000|0.563000	0.77884|0.77884	TTC|TCT		0.532	RBM23-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000413545.3			15	35	1	0	3.46e-05	3.57e-05	15	35				
MYH7	4625	broad.mit.edu	37	14	23884362	23884362	+	Nonsense_Mutation	SNP	C	C	A	rs397516248		TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr14:23884362C>A	ENST00000355349.3	-	37	5563	c.5401G>T	c.(5401-5403)Gag>Tag	p.E1801*	CTD-2201G16.1_ENST00000557368.1_RNA|MIR208B_ENST00000401172.1_RNA	NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1801					adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		GCGATCTGCTCGGCTTCGTCC	0.622																																						uc001wjx.2		NA																	0				ovary(3)|skin(1)	4						c.(5401-5403)GAG>TAG		myosin, heavy chain 7, cardiac muscle, beta							80.0	81.0	80.0					14																	23884362		2203	4300	6503	SO:0001587	stop_gained	4625				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr14:23884362C>A	M58018	CCDS9601.1	14q11.2-q13	2014-09-17	2006-09-29		ENSG00000092054	ENSG00000092054		"""Myosins / Myosin superfamily : Class II"""	7577	protein-coding gene	gene with protein product		160760	"""myopathy, distal 1"", ""myosin, heavy polypeptide 7, cardiac muscle, beta"""	CMH1, MPD1		2494889, 8483915, 15322983	Standard	XM_005267696		Approved	CMD1S	uc001wjx.3	P12883	OTTHUMG00000028755	ENST00000355349.3:c.5401G>T	14.37:g.23884362C>A	ENSP00000347507:p.Glu1801*						p.E1801*	NM_000257	NP_000248	P12883	MYH7_HUMAN		GBM - Glioblastoma multiforme(265;0.00725)	37	5507	-	all_cancers(95;2.54e-05)		1801			Potential.		A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	Nonsense_Mutation	SNP	ENST00000355349.3	37	c.5401G>T	CCDS9601.1	.	.	.	.	.	.	.	.	.	.	C	47	13.225678	0.99728	.	.	ENSG00000092054	ENST00000355349;ENST00000544444	.	.	.	5.12	5.12	0.69794	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.7524	0.91820	0.0:1.0:0.0:0.0	.	.	.	.	X	1801;1806	.	ENSP00000347507:E1801X	E	-	1	0	MYH7	22954202	1.000000	0.71417	0.962000	0.40283	0.918000	0.54935	5.772000	0.68889	2.670000	0.90874	0.563000	0.77884	GAG		0.622	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071798.3	NM_000257		15	103	1	0	1.36e-06	1.42e-06	15	103				
PSME1	5720	broad.mit.edu	37	14	24606752	24606752	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr14:24606752G>C	ENST00000206451.6	+	5	375	c.270G>C	c.(268-270)aaG>aaC	p.K90N	PSME1_ENST00000382708.3_Missense_Mutation_p.K90N|RP11-468E2.5_ENST00000558478.1_lincRNA|PSME1_ENST00000561435.1_Missense_Mutation_p.K90N|EMC9_ENST00000558200.1_5'Flank|PSME1_ENST00000559123.1_5'UTR|PSME1_ENST00000470718.1_3'UTR	NM_001281528.1|NM_006263.2	NP_001268457.1|NP_006254.1	Q06323	PSME1_HUMAN	proteasome (prosome, macropain) activator subunit 1 (PA28 alpha)	90					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|proteasome activator complex (GO:0008537)|proteasome complex (GO:0000502)	endopeptidase activator activity (GO:0061133)			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11				GBM - Glioblastoma multiforme(265;0.00831)		ATGAAAAGAAGAAGGGGGAGG	0.483																																						uc001wmg.2		NA																	0				ovary(1)	1						c.(268-270)AAG>AAC		proteasome activator subunit 1 isoform 1							80.0	92.0	88.0					14																	24606752		2203	4300	6503	SO:0001583	missense	5720				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|proteasome activator complex		g.chr14:24606752G>C		CCDS9612.1, CCDS41930.1, CCDS61415.1	14q11.2	2008-08-29			ENSG00000092010	ENSG00000092010		"""Proteasome (prosome, macropain) subunits"""	9568	protein-coding gene	gene with protein product		600654				8269930	Standard	NM_006263		Approved	IFI5111, PA28alpha	uc001wmh.3	Q06323	OTTHUMG00000028795	ENST00000206451.6:c.270G>C	14.37:g.24606752G>C	ENSP00000206451:p.Lys90Asn					PSME1_uc001wmh.2_Missense_Mutation_p.K90N	p.K90N	NM_006263	NP_006254	Q06323	PSME1_HUMAN		GBM - Glioblastoma multiforme(265;0.00831)	5	364	+			90					A6NJG9|H0YNE3|Q6IBM2|Q9UEF4	Missense_Mutation	SNP	ENST00000206451.6	37	c.270G>C	CCDS9612.1	.	.	.	.	.	.	.	.	.	.	g	10.94	1.493319	0.26774	.	.	ENSG00000092010	ENST00000206451;ENST00000382708	T;T	0.33654	1.85;1.4	4.91	-0.509	0.11977	.	3.727120	0.00744	N	0.001027	T	0.21590	0.0520	N	0.08118	0	0.32245	N	0.572256	B;B	0.21753	0.06;0.031	B;B	0.16289	0.015;0.008	T	0.24368	-1.0162	10	0.38643	T	0.18	-0.4293	8.8371	0.35119	0.4856:0.0:0.5144:0.0	.	90;90	A6NJG9;Q06323	.;PSME1_HUMAN	N	90	ENSP00000206451:K90N;ENSP00000372155:K90N	ENSP00000206451:K90N	K	+	3	2	PSME1	23676592	0.997000	0.39634	0.998000	0.56505	0.992000	0.81027	0.663000	0.25053	0.010000	0.14839	0.563000	0.77884	AAG		0.483	PSME1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071910.2	NM_006263		12	64	0	0	0	0	12	64				
RNF31	55072	broad.mit.edu	37	14	24618025	24618025	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr14:24618025G>C	ENST00000324103.6	+	5	891	c.571G>C	c.(571-573)Gaa>Caa	p.E191Q	PSME2_ENST00000560410.1_5'Flank|PSME2_ENST00000216802.5_5'Flank|RNF31_ENST00000382687.3_Missense_Mutation_p.E40Q|PSME2_ENST00000471700.2_5'Flank|RNF31_ENST00000557878.1_3'UTR|RNF31_ENST00000559275.1_Missense_Mutation_p.E40Q|RP11-468E2.4_ENST00000558468.1_5'Flank	NM_017999.4	NP_060469.4	Q96EP0	RNF31_HUMAN	ring finger protein 31	191	Polyubiquitin-binding.				CD40 signaling pathway (GO:0023035)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein linear polyubiquitination (GO:0097039)|protein polyubiquitination (GO:0000209)|T cell receptor signaling pathway (GO:0050852)	CD40 receptor complex (GO:0035631)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|LUBAC complex (GO:0071797)	ligase activity (GO:0016874)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(4)|skin(2)|soft_tissue(1)	39				GBM - Glioblastoma multiforme(265;0.00861)		GCAGCTTTCAGAATTTGACCC	0.483																																						uc001wmn.1		NA																	0				large_intestine(1)|ovary(1)	2						c.(571-573)GAA>CAA		ring finger protein 31							227.0	227.0	227.0					14																	24618025		1890	4109	5999	SO:0001583	missense	55072				CD40 signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein linear polyubiquitination|T cell receptor signaling pathway	CD40 receptor complex|internal side of plasma membrane|LUBAC complex	ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr14:24618025G>C	AK000973	CCDS41931.1	14q11.2	2012-09-20			ENSG00000092098	ENSG00000092098		"""RING-type (C3HC4) zinc fingers"""	16031	protein-coding gene	gene with protein product	"""HOIL-1-interacting protein"""	612487				10422847	Standard	NM_017999		Approved	ZIBRA, FLJ10111, FLJ23501, HOIP	uc001wmn.1	Q96EP0	OTTHUMG00000028798	ENST00000324103.6:c.571G>C	14.37:g.24618025G>C	ENSP00000315112:p.Glu191Gln					PSME2_uc001wmj.2_5'Flank|PSME2_uc001wmk.2_5'Flank|RNF31_uc001wml.1_Missense_Mutation_p.E40Q|RNF31_uc001wmm.1_Intron|RNF31_uc010alg.1_Missense_Mutation_p.E6Q|RNF31_uc001wmo.1_5'Flank|RNF31_uc001wmp.2_5'Flank	p.E191Q	NM_017999	NP_060469	Q96EP0	RNF31_HUMAN		GBM - Glioblastoma multiforme(265;0.00861)	5	820	+			191			Polyubiquitin-binding.		A0A962|Q86VI2|Q8TEI0|Q96GB4|Q96NF1|Q9H5F1|Q9NWD2	Missense_Mutation	SNP	ENST00000324103.6	37	c.571G>C	CCDS41931.1	.	.	.	.	.	.	.	.	.	.	G	13.71	2.318439	0.40996	.	.	ENSG00000092098	ENST00000324103;ENST00000382687	T;T	0.46451	0.9;0.87	4.72	4.72	0.59763	.	0.433888	0.23474	N	0.047800	T	0.37598	0.1009	L	0.44542	1.39	0.33297	D	0.56426	P;P;P	0.40250	0.487;0.709;0.621	B;B;B	0.39971	0.167;0.229;0.315	T	0.54853	-0.8231	10	0.46703	T	0.11	-10.7498	13.0457	0.58924	0.0:0.0:1.0:0.0	.	6;191;40	B3KV71;Q96EP0;Q96EP0-3	.;RNF31_HUMAN;.	Q	191;40	ENSP00000315112:E191Q;ENSP00000372134:E40Q	ENSP00000315112:E191Q	E	+	1	0	RNF31	23687865	1.000000	0.71417	1.000000	0.80357	0.593000	0.36681	4.235000	0.58666	2.455000	0.83008	0.561000	0.74099	GAA		0.483	RNF31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071921.3	NM_017999		47	240	0	0	0	0	47	240				
LTB4R	1241	broad.mit.edu	37	14	24785338	24785338	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr14:24785338T>C	ENST00000396789.4	+	2	2206	c.481T>C	c.(481-483)Tgg>Cgg	p.W161R	LTB4R_ENST00000396782.2_Missense_Mutation_p.W161R|LTB4R_ENST00000345363.3_Missense_Mutation_p.W161R	NM_181657.3	NP_858043.1	Q15722	LT4R1_HUMAN	leukotriene B4 receptor	161					cellular component movement (GO:0006928)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|muscle contraction (GO:0006936)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	leukotriene B4 receptor activity (GO:0001632)|leukotriene receptor activity (GO:0004974)|nucleotide binding (GO:0000166)			endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|stomach(1)	8				GBM - Glioblastoma multiforme(265;0.018)		AGTAGTGCCCTGGAAAACGAA	0.637																																						uc001wos.2		NA																	0					0						c.(481-483)TGG>CGG		leukotriene B4 receptor							71.0	73.0	72.0					14																	24785338		2203	4300	6503	SO:0001583	missense	1241				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cellular component movement|immune response|inflammatory response|muscle contraction	integral to plasma membrane	nucleotide binding	g.chr14:24785338T>C	X98356	CCDS9626.1	14q11.2-q12	2012-08-10			ENSG00000213903	ENSG00000213903		"""GPCR / Class A : Leukotriene receptors"""	6713	protein-coding gene	gene with protein product		601531		P2RY7, GPR16, CMKRL1		8921391, 8702478	Standard	NM_181657		Approved	BLTR, P2Y7, LTB4R1	uc001wos.3	Q15722	OTTHUMG00000029346	ENST00000396789.4:c.481T>C	14.37:g.24785338T>C	ENSP00000380008:p.Trp161Arg					LTB4R_uc010alp.2_Missense_Mutation_p.W161R|LTB4R_uc001wou.2_Missense_Mutation_p.W161R	p.W161R	NM_001143919	NP_001137391	Q15722	LT4R1_HUMAN		GBM - Glioblastoma multiforme(265;0.018)	2	802	+			161			Extracellular (Potential).		Q13305|Q53XV5|Q92641|Q9BSU5	Missense_Mutation	SNP	ENST00000396789.4	37	c.481T>C	CCDS9626.1	.	.	.	.	.	.	.	.	.	.	T	2.189	-0.385680	0.04966	.	.	ENSG00000213903	ENST00000345363;ENST00000396789;ENST00000556141;ENST00000396782	T;T;T;T	0.35789	1.29;1.29;1.29;1.29	5.19	-10.4	0.00318	GPCR, rhodopsin-like superfamily (1);	17.900100	0.00447	U	0.000082	T	0.10852	0.0265	N	0.01729	-0.75	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.13495	-1.0507	10	0.16896	T	0.51	.	5.2104	0.15314	0.0821:0.482:0.259:0.1769	.	161	Q15722	LT4R1_HUMAN	R	161;161;61;161	ENSP00000307445:W161R;ENSP00000380008:W161R;ENSP00000451929:W61R;ENSP00000380002:W161R	ENSP00000307445:W161R	W	+	1	0	LTB4R	23855178	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-8.585000	0.00019	-2.356000	0.00613	-0.322000	0.08575	TGG		0.637	LTB4R-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073198.4			3	119	0	0	0	0	3	119				
KIAA0391	9692	broad.mit.edu	37	14	35593114	35593114	+	Silent	SNP	C	C	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr14:35593114C>T	ENST00000557565.1	+	2	1044	c.663C>T	c.(661-663)atC>atT	p.I221I	KIAA0391_ENST00000604948.1_Silent_p.I126I|KIAA0391_ENST00000534898.4_Silent_p.I221I|PPP2R3C_ENST00000555644.1_5'Flank|KIAA0391_ENST00000603588.1_Intron|KIAA0391_ENST00000605870.1_Intron|KIAA0391_ENST00000603544.1_Silent_p.I221I|KIAA0391_ENST00000321130.10_Silent_p.I221I|KIAA0391_ENST00000250377.7_Silent_p.I126I|PPP2R3C_ENST00000261475.5_5'Flank	NM_001282234.1	NP_001269163.1	O15091	MRRP3_HUMAN	KIAA0391	221					tRNA processing (GO:0008033)	mitochondrion (GO:0005739)				central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	14	Breast(36;0.0545)|Hepatocellular(127;0.158)|Prostate(35;0.184)		Lung(238;2.93e-05)|LUAD - Lung adenocarcinoma(48;3.86e-05)|Epithelial(34;0.0114)|all cancers(34;0.0277)	GBM - Glioblastoma multiforme(112;0.0593)		GGGGATTGATCCATTCAGACA	0.373																																						uc001wsy.1		NA																	0					0						c.(661-663)ATC>ATT		mitochondrial RNase P protein 3 precursor							45.0	45.0	45.0					14																	35593114		2202	4299	6501	SO:0001819	synonymous_variant	9692				tRNA processing	mitochondrion		g.chr14:35593114C>T	AB002389	CCDS32063.1, CCDS58312.1, CCDS58313.1, CCDS58314.1	14q13.2	2013-06-18			ENSG00000100890	ENSG00000100890			19958	protein-coding gene	gene with protein product	"""mitochondrial RNase P subunit 3"", ""proteinaceous RNase P"""	609947				9205841, 18984158	Standard	NM_001256678		Approved	MRPP3, PRORP	uc001wsy.2	O15091		ENST00000557565.1:c.663C>T	14.37:g.35593114C>T						KIAA0391_uc010tps.1_Silent_p.I126I|KIAA0391_uc001wsz.1_Silent_p.I221I|KIAA0391_uc001wta.2_RNA|KIAA0391_uc001wtb.1_Silent_p.I221I|KIAA0391_uc001wtc.1_Intron|PPP2R3C_uc001wss.2_5'Flank|PPP2R3C_uc001wst.2_5'Flank|PPP2R3C_uc010tpr.1_5'Flank|PPP2R3C_uc001wsu.2_5'Flank|PPP2R3C_uc010amn.1_5'Flank|PPP2R3C_uc001wsw.2_5'Flank|PPP2R3C_uc001wsx.1_5'Flank	p.I221I	NM_014672	NP_055487	O15091	MRRP3_HUMAN	Lung(238;2.93e-05)|LUAD - Lung adenocarcinoma(48;3.86e-05)|Epithelial(34;0.0114)|all cancers(34;0.0277)	GBM - Glioblastoma multiforme(112;0.0593)	2	1023	+	Breast(36;0.0545)|Hepatocellular(127;0.158)|Prostate(35;0.184)		221					B4DXD9|B4E0S8|B4E211|C4AM93|D3DS99|D3DSA1|Q86SZ4|Q86YB5|Q8N5L5	Silent	SNP	ENST00000557565.1	37	c.663C>T	CCDS32063.1																																																																																				0.373	KIAA0391-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	protein_coding	OTTHUMT00000411280.1	NM_014672		17	35	0	0	0	0	17	35				
FSCB	84075	broad.mit.edu	37	14	44974621	44974621	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr14:44974621C>T	ENST00000340446.4	-	1	1861	c.1570G>A	c.(1570-1572)Gaa>Aaa	p.E524K	RP11-163M18.1_ENST00000555433.1_RNA|RP11-163M18.1_ENST00000557465.1_RNA	NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	524	Ala-rich.					sperm fibrous sheath (GO:0035686)|sperm principal piece (GO:0097228)	calcium ion binding (GO:0005509)			breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		AGCTGAATTTCAGCAGAGGCC	0.507																																						uc001wvn.2		NA																	0				lung(3)|breast(3)|ovary(2)|central_nervous_system(1)	9						c.(1570-1572)GAA>AAA		fibrous sheath CABYR binding protein							30.0	30.0	30.0					14																	44974621		2202	4300	6502	SO:0001583	missense	84075					cilium		g.chr14:44974621C>T	AK124110	CCDS9679.1	14q21.3	2007-11-22	2007-11-22	2007-11-22	ENSG00000189139	ENSG00000189139			20494	protein-coding gene	gene with protein product		611779	"""chromosome 14 open reading frame 155"""	C14orf155		17855365	Standard	NM_032135		Approved	DKFZP434F1017	uc001wvn.3	Q5H9T9	OTTHUMG00000140262	ENST00000340446.4:c.1570G>A	14.37:g.44974621C>T	ENSP00000344579:p.Glu524Lys						p.E524K	NM_032135	NP_115511	Q5H9T9	FSCB_HUMAN		GBM - Glioblastoma multiforme(112;0.128)	1	1879	-			524			Ala-rich.		Q5H9U7|Q86YI2|Q9H0J3	Missense_Mutation	SNP	ENST00000340446.4	37	c.1570G>A	CCDS9679.1	.	.	.	.	.	.	.	.	.	.	C	10.10	1.256815	0.22965	.	.	ENSG00000189139	ENST00000340446	T	0.13089	2.62	5.14	3.32	0.38043	.	.	.	.	.	T	0.13628	0.0330	L	0.58810	1.83	0.09310	N	1	B	0.24533	0.105	B	0.24155	0.051	T	0.31308	-0.9948	9	0.19590	T	0.45	-3.2351	8.0218	0.30415	0.0:0.8114:0.0:0.1886	.	524	Q5H9T9	FSCB_HUMAN	K	524	ENSP00000344579:E524K	ENSP00000344579:E524K	E	-	1	0	FSCB	44044371	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	0.016000	0.13377	0.686000	0.31488	0.603000	0.83216	GAA		0.507	FSCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276788.1	NM_032135		5	35	0	0	0	0	5	35				
KLHL28	54813	broad.mit.edu	37	14	45414609	45414609	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr14:45414609C>G	ENST00000396128.4	-	2	642	c.523G>C	c.(523-525)Gag>Cag	p.E175Q	KLHL28_ENST00000355081.2_Missense_Mutation_p.E189Q	NM_017658.3	NP_060128.2	Q9NXS3	KLH28_HUMAN	kelch-like family member 28	175										breast(2)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						TGTGTAAGCTCAAAAAACTCT	0.383																																						uc001wvq.2		NA																	0				ovary(1)	1						c.(523-525)GAG>CAG		BTB (POZ) domain containing 5							91.0	90.0	90.0					14																	45414609		2203	4300	6503	SO:0001583	missense	54813							g.chr14:45414609C>G	AK000088	CCDS9680.1	14q21.1	2013-02-22	2013-02-22	2007-01-09	ENSG00000179454	ENSG00000179454		"""Kelch-like"", ""BTB/POZ domain containing"""	19741	protein-coding gene	gene with protein product			"""BTB (POZ) domain containing 5"", ""kelch-like 28 (Drosophila)"""	BTBD5			Standard	NM_017658		Approved	FLJ20081	uc001wvr.3	Q9NXS3	OTTHUMG00000140263	ENST00000396128.4:c.523G>C	14.37:g.45414609C>G	ENSP00000379434:p.Glu175Gln					KLHL28_uc001wvr.2_Missense_Mutation_p.E175Q|KLHL28_uc001wvt.3_Missense_Mutation_p.E175Q	p.E175Q	NM_017658	NP_060128	Q9NXS3	KLH28_HUMAN			2	769	-			175					Q0VAL5	Missense_Mutation	SNP	ENST00000396128.4	37	c.523G>C	CCDS9680.1	.	.	.	.	.	.	.	.	.	.	C	17.61	3.432172	0.62844	.	.	ENSG00000179454	ENST00000396128;ENST00000355081	T;T	0.68903	-0.36;-0.36	5.85	5.85	0.93711	BTB/Kelch-associated (2);	0.000000	0.85682	D	0.000000	T	0.71762	0.3378	N	0.16833	0.445	0.58432	D	0.999999	B;D	0.62365	0.034;0.991	B;D	0.76575	0.018;0.988	T	0.72127	-0.4384	10	0.40728	T	0.16	.	19.7585	0.96304	0.0:1.0:0.0:0.0	.	175;175	Q9NXS3-2;Q9NXS3	.;KLH28_HUMAN	Q	175;189	ENSP00000379434:E175Q;ENSP00000347193:E189Q	ENSP00000347193:E189Q	E	-	1	0	KLHL28	44484359	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.418000	0.80167	2.773000	0.95371	0.655000	0.94253	GAG		0.383	KLHL28-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276790.3			4	103	0	0	0	0	4	103				
TMEM260	54916	broad.mit.edu	37	14	57082694	57082694	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr14:57082694C>A	ENST00000261556.6	+	8	1012	c.890C>A	c.(889-891)tCa>tAa	p.S297*	TMEM260_ENST00000536419.1_5'UTR|TMEM260_ENST00000553335.1_3'UTR|TMEM260_ENST00000538838.1_Nonsense_Mutation_p.S297*	NM_017799.3	NP_060269.3	Q9NX78	TM260_HUMAN	transmembrane protein 260	297						integral component of membrane (GO:0016021)											ACCGAACTCTCATTCAACATC	0.313																																						uc001xcm.2		NA																	0				breast(1)|central_nervous_system(1)	2						c.(889-891)TCA>TAA		hypothetical protein LOC54916							134.0	138.0	136.0					14																	57082694		2203	4299	6502	SO:0001587	stop_gained	54916					integral to membrane		g.chr14:57082694C>A	AK000399	CCDS9727.2	14q22.2	2013-03-08	2013-03-08	2013-03-08	ENSG00000070269	ENSG00000070269			20185	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 101"""	C14orf101			Standard	XR_245695		Approved	FLJ20392	uc001xcm.3	Q9NX78	OTTHUMG00000152337	ENST00000261556.6:c.890C>A	14.37:g.57082694C>A	ENSP00000261556:p.Ser297*					C14orf101_uc001xcj.2_RNA|C14orf101_uc010aot.1_Nonsense_Mutation_p.S297*|C14orf101_uc001xcl.1_RNA|C14orf101_uc001xcn.2_RNA|C14orf101_uc010trf.1_5'UTR|C14orf101_uc001xco.2_5'UTR	p.S297*	NM_017799	NP_060269	Q9NX78	CN101_HUMAN		OV - Ovarian serous cystadenocarcinoma(311;0.226)	8	1012	+			297					A8KAN4|B3KPF5|Q86XE1	Nonsense_Mutation	SNP	ENST00000261556.6	37	c.890C>A	CCDS9727.2	.	.	.	.	.	.	.	.	.	.	C	38	6.694338	0.97768	.	.	ENSG00000070269	ENST00000261556;ENST00000538838	.	.	.	5.89	5.89	0.94794	.	0.124148	0.56097	D	0.000032	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-3.5849	17.1676	0.86821	0.0:1.0:0.0:0.0	.	.	.	.	X	297	.	ENSP00000261556:S297X	S	+	2	0	C14orf101	56152447	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	4.053000	0.57427	2.788000	0.95919	0.585000	0.79938	TCA		0.313	TMEM260-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276924.1	NM_017799		38	123	1	0	6.69e-21	7.19e-21	38	123				
EXOC5	10640	broad.mit.edu	37	14	57699411	57699411	+	Silent	SNP	G	G	C			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr14:57699411G>C	ENST00000413566.2	-	10	1271	c.912C>G	c.(910-912)ctC>ctG	p.L304L	EXOC5_ENST00000340918.7_Silent_p.L239L	NM_006544.3	NP_006535.1	O00471	EXOC5_HUMAN	exocyst complex component 5	304					cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|protein transport (GO:0015031)|vesicle docking (GO:0048278)	cytoplasm (GO:0005737)|cytosol (GO:0005829)				breast(3)|endometrium(1)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	22						AGAGATTTTTGAGATATTGCT	0.254																																						uc001xct.2		NA																	0				ovary(2)|breast(1)	3						c.(910-912)CTC>CTG		SEC10 protein							54.0	52.0	52.0					14																	57699411		1780	4047	5827	SO:0001819	synonymous_variant	10640				exocytosis|post-Golgi vesicle-mediated transport|protein transport|vesicle docking	cytoplasm		g.chr14:57699411G>C	U85946	CCDS45111.1	14q22.3	2013-01-22	2005-11-01	2005-11-01	ENSG00000070367	ENSG00000070367			10696	protein-coding gene	gene with protein product		604469	"""SEC10 (S. cerevisiae)-like 1"", ""SEC10-like 1 (S. cerevisiae)"""	SEC10L1		9119050	Standard	XM_005267272		Approved	SEC10, SEC10P	uc001xct.3	O00471	OTTHUMG00000171309	ENST00000413566.2:c.912C>G	14.37:g.57699411G>C						EXOC5_uc001xcs.2_5'Flank|EXOC5_uc010trg.1_Silent_p.L249L|EXOC5_uc010trh.1_Silent_p.L239L	p.L304L	NM_006544	NP_006535	O00471	EXOC5_HUMAN			10	1163	-			304					B2R6C5	Silent	SNP	ENST00000413566.2	37	c.912C>G	CCDS45111.1																																																																																				0.254	EXOC5-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412905.1	NM_006544		3	55	0	0	0	0	3	55				
SPTB	6710	broad.mit.edu	37	14	65259779	65259779	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr14:65259779C>G	ENST00000389721.5	-	13	2634	c.2602G>C	c.(2602-2604)Gag>Cag	p.E868Q	SPTB_ENST00000389722.3_Missense_Mutation_p.E868Q|SPTB_ENST00000556626.1_Missense_Mutation_p.E868Q|SPTB_ENST00000542895.1_Missense_Mutation_p.E868Q|SPTB_ENST00000389720.3_Missense_Mutation_p.E868Q	NM_000347.5	NP_000338.3	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	868					actin filament capping (GO:0051693)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)	actin cytoskeleton (GO:0015629)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ankyrin binding (GO:0030506)|structural constituent of cytoskeleton (GO:0005200)			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		AGCCACTTCTCCTTCTCTCCC	0.602																																						uc001xht.2		NA																	0				ovary(7)|skin(2)|lung(1)|central_nervous_system(1)	11						c.(2602-2604)GAG>CAG		spectrin beta isoform b							65.0	52.0	56.0					14																	65259779		2203	4300	6503	SO:0001583	missense	6710				actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton	g.chr14:65259779C>G		CCDS32099.1, CCDS32100.1	14q24.1-q24.2	2013-01-10	2008-07-29			ENSG00000070182		"""Pleckstrin homology (PH) domain containing"""	11274	protein-coding gene	gene with protein product	"""spherocytosis, clinical type I"""	182870				2209094	Standard	NM_001024858		Approved		uc001xhr.3	P11277		ENST00000389721.5:c.2602G>C	14.37:g.65259779C>G	ENSP00000374371:p.Glu868Gln					SPTB_uc001xhr.2_Missense_Mutation_p.E868Q|SPTB_uc001xhs.2_Missense_Mutation_p.E868Q|SPTB_uc001xhu.2_Missense_Mutation_p.E868Q	p.E868Q	NM_000347	NP_000338	P11277	SPTB1_HUMAN		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)	13	2656	-		all_lung(585;4.15e-09)	868			Spectrin 6.		Q15510|Q15519	Missense_Mutation	SNP	ENST00000389721.5	37	c.2602G>C	CCDS32100.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.097205	0.76870	.	.	ENSG00000070182	ENST00000389723;ENST00000389722;ENST00000556626;ENST00000389721;ENST00000542895;ENST00000389720	T;T;T;T;T	0.46451	0.87;0.87;0.87;0.87;0.87	5.23	4.34	0.51931	.	0.224319	0.45126	D	0.000398	T	0.63177	0.2489	M	0.83118	2.625	0.46901	D	0.999242	P;P	0.40909	0.732;0.725	P;P	0.56474	0.799;0.721	T	0.67059	-0.5766	10	0.66056	D	0.02	.	12.6505	0.56757	0.0:0.9182:0.0:0.0818	.	868;872	P11277;Q59FP5	SPTB1_HUMAN;.	Q	872;868;868;868;868;868	ENSP00000374372:E868Q;ENSP00000451752:E868Q;ENSP00000374371:E868Q;ENSP00000443882:E868Q;ENSP00000374370:E868Q	ENSP00000374370:E868Q	E	-	1	0	SPTB	64329532	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	4.075000	0.57584	1.189000	0.43028	0.555000	0.69702	GAG		0.602	SPTB-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000414080.1			19	44	0	0	0	0	19	44				
SERPINA9	327657	broad.mit.edu	37	14	94935785	94935785	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr14:94935785C>G	ENST00000380365.3	-	2	471	c.393G>C	c.(391-393)aaG>aaC	p.K131N	SERPINA9_ENST00000546329.1_Missense_Mutation_p.K113N|SERPINA9_ENST00000424550.2_5'UTR|SERPINA9_ENST00000539349.1_5'Flank|SERPINA9_ENST00000337425.5_Missense_Mutation_p.K149N|SERPINA9_ENST00000448305.2_Missense_Mutation_p.K51N|SERPINA9_ENST00000298845.7_Intron			Q86WD7	SPA9_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9	131					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|membrane (GO:0016020)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(17)	21		all_cancers(154;0.0691)|all_epithelial(191;0.233)		Epithelial(152;0.144)|COAD - Colon adenocarcinoma(157;0.224)|all cancers(159;0.24)		CACTTCCCATCTTCAAGGTCA	0.512																																						uc001ydf.2		NA																	0				lung(1)|central_nervous_system(1)	2						c.(445-447)AAG>AAC		serine (or cysteine) proteinase inhibitor, clade							122.0	122.0	122.0					14																	94935785		2036	4198	6234	SO:0001583	missense	327657				regulation of proteolysis	cytoplasm|extracellular region|membrane	serine-type endopeptidase inhibitor activity	g.chr14:94935785C>G	AY185497	CCDS41982.1, CCDS41983.1, CCDS61542.1	14q32.1	2014-02-18	2005-08-18		ENSG00000170054	ENSG00000170054		"""Serine (or cysteine) peptidase inhibitors"""	15995	protein-coding gene	gene with protein product		615677	"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9"""			24172014	Standard	NM_175739		Approved	CENTERIN, SERPINA11b, GCET1	uc001ydf.3	Q86WD7	OTTHUMG00000167710	ENST00000380365.3:c.393G>C	14.37:g.94935785C>G	ENSP00000369723:p.Lys131Asn					SERPINA9_uc001yde.2_Intron|SERPINA9_uc010avc.2_5'UTR|SERPINA9_uc001ydg.2_Missense_Mutation_p.K113N|SERPINA9_uc001ydh.1_Missense_Mutation_p.K149N|SERPINA9_uc001ydi.1_Missense_Mutation_p.K113N	p.K149N	NM_175739	NP_783866	Q86WD7	SPA9_HUMAN		Epithelial(152;0.144)|COAD - Colon adenocarcinoma(157;0.224)|all cancers(159;0.24)	2	608	-		all_cancers(154;0.0691)|all_epithelial(191;0.233)	131					B4DVH4|B9ZVX3|Q2T9J2|Q6UWP9|Q86WD4|Q86WD5|Q86WD6|Q86YP6|Q86YP7	Missense_Mutation	SNP	ENST00000380365.3	37	c.447G>C		.	.	.	.	.	.	.	.	.	.	C	0.964	-0.702279	0.03255	.	.	ENSG00000170054	ENST00000448305;ENST00000337425;ENST00000380365;ENST00000546329	D;D;D;D	0.85171	-1.95;-1.95;-1.95;-1.95	3.97	3.03	0.35002	Serpin domain (3);	1.085380	0.07196	N	0.856540	T	0.78679	0.4321	N	0.12887	0.27	0.09310	N	1	B;B;P;B	0.44521	0.066;0.003;0.837;0.002	B;B;P;B	0.49637	0.124;0.017;0.617;0.01	T	0.66052	-0.6019	10	0.22109	T	0.4	.	8.0483	0.30562	0.2295:0.3738:0.3967:0.0	.	113;131;51;149	Q86WD7-4;Q86WD7;Q86WD7-6;Q86WD7-7	.;SPA9_HUMAN;.;.	N	51;149;131;113	ENSP00000414092:K51N;ENSP00000337133:K149N;ENSP00000369723:K131N;ENSP00000445476:K113N	ENSP00000337133:K149N	K	-	3	2	SERPINA9	94005538	0.000000	0.05858	0.588000	0.28705	0.271000	0.26615	-0.532000	0.06164	0.739000	0.32628	0.462000	0.41574	AAG		0.512	SERPINA9-008	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000395803.2	NM_175739		30	153	0	0	0	0	30	153				
MKRN3	7681	broad.mit.edu	37	15	23811327	23811327	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr15:23811327C>T	ENST00000314520.3	+	1	874	c.398C>T	c.(397-399)tCg>tTg	p.S133L	RP11-73C9.1_ENST00000563044.1_RNA|MKRN3_ENST00000564592.1_Intron|MKRN3_ENST00000568252.1_Intron	NM_005664.3	NP_005655.1	Q13064	MKRN3_HUMAN	makorin ring finger protein 3	133					protein ubiquitination (GO:0016567)	ribonucleoprotein complex (GO:0030529)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		GGTGGCGTTTCGCCGCCTGGG	0.627																																						uc001ywh.3		NA																	0				lung(6)|large_intestine(2)|ovary(2)	10						c.(397-399)TCG>TTG		makorin ring finger protein 3							42.0	45.0	44.0					15																	23811327		2203	4300	6503	SO:0001583	missense	7681					ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding	g.chr15:23811327C>T	U19107	CCDS10013.1	15q11-q13	2013-01-09	2008-08-13		ENSG00000179455	ENSG00000179455		"""RING-type (C3HC4) zinc fingers"""	7114	protein-coding gene	gene with protein product	"""zinc finger protein 127"""	603856		ZNF127, D15S9		10196367	Standard	NM_005664		Approved	RNF63, ZFP127, MGC88288	uc001ywh.4	Q13064	OTTHUMG00000129160	ENST00000314520.3:c.398C>T	15.37:g.23811327C>T	ENSP00000313881:p.Ser133Leu					MKRN3_uc001ywi.2_Intron|MKRN3_uc010ayi.1_Missense_Mutation_p.S133L	p.S133L	NM_005664	NP_005655	Q13064	MKRN3_HUMAN		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)	1	874	+		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)	133						Missense_Mutation	SNP	ENST00000314520.3	37	c.398C>T	CCDS10013.1	.	.	.	.	.	.	.	.	.	.	c	4.396	0.073052	0.08485	.	.	ENSG00000179455	ENST00000314520	T	0.32272	1.46	3.47	-1.88	0.07713	.	0.645508	0.14774	N	0.299186	T	0.14313	0.0346	N	0.24115	0.695	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.15150	-1.0447	10	0.49607	T	0.09	.	0.6826	0.00877	0.1702:0.3551:0.1662:0.3086	.	133	Q13064	MKRN3_HUMAN	L	133	ENSP00000313881:S133L	ENSP00000313881:S133L	S	+	2	0	MKRN3	21362420	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.752000	0.01819	-0.374000	0.07967	-1.116000	0.02052	TCG		0.627	MKRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251225.1	NM_005664		15	61	0	0	0	0	15	61				
FAN1	22909	broad.mit.edu	37	15	31220836	31220836	+	Missense_Mutation	SNP	G	G	A	rs139319999		TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr15:31220836G>A	ENST00000362065.4	+	11	2860	c.2569G>A	c.(2569-2571)Gat>Aat	p.D857N	RP11-540B6.6_ENST00000602886.1_RNA|FAN1_ENST00000568145.1_3'UTR	NM_014967.4	NP_055782.3	Q9Y2M0	FAN1_HUMAN	FANCD2/FANCI-associated nuclease 1	857					DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA incision (GO:0033683)	nucleus (GO:0005634)	5'-3' exonuclease activity (GO:0008409)|5'-flap endonuclease activity (GO:0017108)|DNA binding (GO:0003677)|magnesium ion binding (GO:0000287)|phosphodiesterase I activity (GO:0004528)|ubiquitin binding (GO:0043130)			autonomic_ganglia(2)|breast(2)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(6)|lung(8)|skin(1)	29						TGGGATTCCGGATGTCTTCAG	0.577								Direct reversal of damage																														uc001zff.2		NA																	0					0						c.(2569-2571)GAT>AAT	Direct_reversal_of_damage|Editing_and_processing_nucleases	myotubularin related protein 15 isoform a							220.0	192.0	201.0					15																	31220836		2202	4300	6502	SO:0001583	missense	22909				double-strand break repair via homologous recombination|nucleotide-excision repair, DNA incision	nucleus	5'-3' exonuclease activity|5'-flap endonuclease activity|DNA binding|magnesium ion binding|phosphodiesterase I activity|ubiquitin binding	g.chr15:31220836G>A		CCDS32186.1, CCDS58344.1	15q13.2-q13.3	2010-08-04	2010-08-04	2010-08-04		ENSG00000198690			29170	protein-coding gene	gene with protein product		613534	"""KIAA1018"", ""myotubularin related protein 15"""	KIAA1018, MTMR15		20603015, 20603016, 20603073	Standard	NM_014967		Approved		uc001zff.3	Q9Y2M0		ENST00000362065.4:c.2569G>A	15.37:g.31220836G>A	ENSP00000354497:p.Asp857Asn					MTMR15_uc001zfe.2_Missense_Mutation_p.D462N	p.D857N	NM_014967	NP_055782	Q9Y2M0	FAN1_HUMAN		all cancers(64;4.72e-15)|Epithelial(43;5.4e-11)|GBM - Glioblastoma multiforme(186;0.000136)|BRCA - Breast invasive adenocarcinoma(123;0.00402)|Lung(196;0.168)	11	2860	+		all_lung(180;2.23e-09)	857					A8K4M2|Q86WU8	Missense_Mutation	SNP	ENST00000362065.4	37	c.2569G>A	CCDS32186.1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.703299	0.88924	.	.	ENSG00000198690	ENST00000362065	T	0.53423	0.62	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	T	0.62405	0.2425	L	0.42744	1.35	0.80722	D	1	D;D	0.89917	1.0;0.973	D;P	0.87578	0.998;0.8	T	0.57957	-0.7721	10	0.33940	T	0.23	-27.8507	18.6655	0.91488	0.0:0.0:1.0:0.0	.	857;857	Q9Y2M0;D9MXF4	FAN1_HUMAN;.	N	857	ENSP00000354497:D857N	ENSP00000354497:D857N	D	+	1	0	FAN1	29008128	1.000000	0.71417	0.610000	0.28997	0.351000	0.29236	9.484000	0.97940	2.501000	0.84356	0.655000	0.94253	GAT		0.577	FAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430740.1	NM_014967		22	135	0	0	0	0	22	135				
EIF2AK4	440275	broad.mit.edu	37	15	40257961	40257961	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr15:40257961G>C	ENST00000263791.5	+	8	977	c.934G>C	c.(934-936)Gag>Cag	p.E312Q	EIF2AK4_ENST00000559624.1_Missense_Mutation_p.E312Q|EIF2AK4_ENST00000382727.2_Missense_Mutation_p.E312Q	NM_001013703.2	NP_001013725.2	Q9P2K8	E2AK4_HUMAN	eukaryotic translation initiation factor 2 alpha kinase 4	312	Protein kinase 1. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular response to starvation (GO:0009267)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of translation (GO:0017148)|protein phosphorylation (GO:0006468)|regulation of translational initiation (GO:0006446)|regulation of translational initiation in response to stress (GO:0043558)	cytosolic ribosome (GO:0022626)	ATP binding (GO:0005524)|eukaryotic translation initiation factor 2alpha kinase activity (GO:0004694)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)	40		all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616)		CTTGTTGTATGAGTGGGTCCT	0.408																																						uc001zkm.1		NA																	0				lung(2)|stomach(1)|skin(1)	4						c.(934-936)GAG>CAG		eukaryotic translation initiation factor 2 alpha							164.0	156.0	159.0					15																	40257961		1897	4137	6034	SO:0001583	missense	440275				translation	cytosolic ribosome	aminoacyl-tRNA ligase activity|ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|protein homodimerization activity	g.chr15:40257961G>C	AB037759	CCDS42016.1	15q13.3	2008-08-18				ENSG00000128829			19687	protein-coding gene	gene with protein product		609280				10504407	Standard	XM_005254392		Approved	GCN2, KIAA1338	uc001zkm.1	Q9P2K8		ENST00000263791.5:c.934G>C	15.37:g.40257961G>C	ENSP00000263791:p.Glu312Gln					EIF2AK4_uc001zkl.2_Missense_Mutation_p.E312Q|EIF2AK4_uc010bbj.1_Missense_Mutation_p.E41Q	p.E312Q	NM_001013703	NP_001013725	Q9P2K8	E2AK4_HUMAN		GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616)	8	984	+		all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119)	312			Protein kinase 1.		C9JEC4|Q69YL7|Q6DC97|Q96GN6|Q9H5K1|Q9NSQ3|Q9NSZ5|Q9UJ56	Missense_Mutation	SNP	ENST00000263791.5	37	c.934G>C	CCDS42016.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.400283	0.83120	.	.	ENSG00000128829	ENST00000263791;ENST00000382727	T;T	0.70869	-0.51;-0.52	5.86	5.86	0.93980	Protein kinase, catalytic domain (1);	0.053274	0.64402	D	0.000001	T	0.75817	0.3901	N	0.25380	0.74	0.80722	D	1	P;D	0.71674	0.866;0.998	B;P	0.61874	0.336;0.895	T	0.76176	-0.3055	10	0.51188	T	0.08	-25.6273	20.1802	0.98196	0.0:0.0:1.0:0.0	.	312;312	Q9P2K8;Q9P2K8-3	E2AK4_HUMAN;.	Q	312	ENSP00000263791:E312Q;ENSP00000372174:E312Q	ENSP00000263791:E312Q	E	+	1	0	EIF2AK4	38045253	1.000000	0.71417	0.998000	0.56505	0.934000	0.57294	7.948000	0.87774	2.777000	0.95525	0.655000	0.94253	GAG		0.408	EIF2AK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418395.1			16	63	0	0	0	0	16	63				
GANC	2595	broad.mit.edu	37	15	42632913	42632913	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr15:42632913G>A	ENST00000318010.8	+	18	2353	c.2113G>A	c.(2113-2115)Gaa>Aaa	p.E705K		NM_198141.2	NP_937784.2	Q8TET4	GANC_HUMAN	glucosidase, alpha; neutral C	705					carbohydrate metabolic process (GO:0005975)		alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|maltose alpha-glucosidase activity (GO:0032450)			breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		all_cancers(109;3.08e-16)|all_epithelial(112;7.48e-15)|Lung NSC(122;3.08e-09)|all_lung(180;1.48e-08)|Melanoma(134;0.0574)|Colorectal(260;0.153)		GBM - Glioblastoma multiforme(94;1.06e-06)	Miglitol(DB00491)	GTTCCCTGATGAACTAAAGAC	0.343																																						uc001zpi.2		NA																	0				central_nervous_system(2)	2						c.(2113-2115)GAA>AAA		glucosidase, alpha; neutral C							114.0	120.0	118.0					15																	42632913		2203	4299	6502	SO:0001583	missense	2595				carbohydrate metabolic process		carbohydrate binding|maltose alpha-glucosidase activity	g.chr15:42632913G>A	AF545045	CCDS10084.1	15q15.2	2012-10-02			ENSG00000214013	ENSG00000214013	3.2.1.20		4139	protein-coding gene	gene with protein product		104180				6995030, 12370436	Standard	NM_198141		Approved		uc001zpi.3	Q8TET4	OTTHUMG00000130487	ENST00000318010.8:c.2113G>A	15.37:g.42632913G>A	ENSP00000326227:p.Glu705Lys						p.E705K	NM_198141	NP_937784	Q8TET4	GANC_HUMAN		GBM - Glioblastoma multiforme(94;1.06e-06)	18	2427	+		all_cancers(109;3.08e-16)|all_epithelial(112;7.48e-15)|Lung NSC(122;3.08e-09)|all_lung(180;1.48e-08)|Melanoma(134;0.0574)|Colorectal(260;0.153)	705					Q52LQ4|Q8IWZ0|Q8IZM4|Q8IZM5	Missense_Mutation	SNP	ENST00000318010.8	37	c.2113G>A	CCDS10084.1	.	.	.	.	.	.	.	.	.	.	G	13.03	2.115582	0.37339	.	.	ENSG00000214013	ENST00000318010	D	0.91686	-2.89	5.57	3.67	0.42095	.	0.557050	0.19953	N	0.102386	D	0.89146	0.6632	L	0.57130	1.785	0.30954	N	0.724374	B	0.21520	0.057	B	0.27715	0.082	D	0.85468	0.1171	10	0.56958	D	0.05	-6.1933	7.1942	0.25843	0.1507:0.3961:0.4532:0.0	.	705	Q8TET4	GANC_HUMAN	K	705	ENSP00000326227:E705K	ENSP00000326227:E705K	E	+	1	0	GANC	40420205	1.000000	0.71417	0.864000	0.33941	0.397000	0.30659	3.354000	0.52254	0.698000	0.31739	0.637000	0.83480	GAA		0.343	GANC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252887.2	NM_198141		23	71	0	0	0	0	23	71				
LCMT2	9836	broad.mit.edu	37	15	43620956	43620956	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr15:43620956C>T	ENST00000305641.5	-	1	1847	c.1732G>A	c.(1732-1734)Gac>Aac	p.D578N	LCMT2_ENST00000544735.1_Missense_Mutation_p.D157N|ADAL_ENST00000389651.4_5'Flank|LCMT2_ENST00000567039.1_3'UTR|ADAL_ENST00000428046.3_5'Flank|ADAL_ENST00000422466.2_5'Flank	NM_014793.4	NP_055608.2	O60294	TYW4_HUMAN	leucine carboxyl methyltransferase 2	578					tRNA processing (GO:0008033)		methyltransferase activity (GO:0008168)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|liver(1)|lung(9)|skin(1)|urinary_tract(1)	20		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.1e-07)	L-Leucine(DB00149)	GGCTGGATGTCTACTGACTCC	0.517																																						uc001zrg.2		NA																	0					0						c.(1732-1734)GAC>AAC		leucine carboxyl methyltransferase 2	L-Leucine(DB00149)						76.0	77.0	77.0					15																	43620956		2201	4299	6500	SO:0001583	missense	9836				tRNA processing		methyltransferase activity|protein binding	g.chr15:43620956C>T	AF265443	CCDS10094.1	15q15.3	2007-01-26			ENSG00000168806	ENSG00000168806			17558	protein-coding gene	gene with protein product	"""tRNA-yW synthesizing protein 4"""	611246				9628581, 17150819	Standard	NM_014793		Approved	KIAA0547, MGC9534, TYW4, PPM2	uc001zrg.3	O60294	OTTHUMG00000130705	ENST00000305641.5:c.1732G>A	15.37:g.43620956C>T	ENSP00000307214:p.Asp578Asn					LCMT2_uc010udn.1_Missense_Mutation_p.D157N|ADAL_uc001zrh.2_5'Flank|ADAL_uc010udo.1_5'Flank	p.D578N	NM_014793	NP_055608	O60294	LCMT2_HUMAN		GBM - Glioblastoma multiforme(94;8.1e-07)	1	1936	-		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)	578					Q4JFT6|Q96B55|Q9NR10	Missense_Mutation	SNP	ENST00000305641.5	37	c.1732G>A	CCDS10094.1	.	.	.	.	.	.	.	.	.	.	C	12.27	1.887163	0.33348	.	.	ENSG00000168806	ENST00000305641;ENST00000544735	T;T	0.18016	2.24;2.89	5.7	4.77	0.60923	Kelch-type beta propeller (1);	0.293678	0.30781	N	0.008881	T	0.14141	0.0342	L	0.34521	1.04	0.09310	N	1	P	0.43542	0.81	B	0.41619	0.361	T	0.12708	-1.0537	10	0.17832	T	0.49	-4.9082	12.9258	0.58260	0.0:0.8379:0.1621:0.0	.	578	O60294	LCMT2_HUMAN	N	578;157	ENSP00000307214:D578N;ENSP00000442022:D157N	ENSP00000307214:D578N	D	-	1	0	LCMT2	41408248	0.959000	0.32827	0.027000	0.17364	0.746000	0.42486	3.251000	0.51453	1.395000	0.46643	0.655000	0.94253	GAC		0.517	LCMT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253205.1	NM_014793		35	81	0	0	0	0	35	81				
LCMT2	9836	broad.mit.edu	37	15	43621022	43621022	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr15:43621022C>G	ENST00000305641.5	-	1	1781	c.1666G>C	c.(1666-1668)Gag>Cag	p.E556Q	LCMT2_ENST00000544735.1_Missense_Mutation_p.E135Q|ADAL_ENST00000389651.4_5'Flank|LCMT2_ENST00000567039.1_3'UTR|ADAL_ENST00000428046.3_5'Flank|ADAL_ENST00000422466.2_5'Flank	NM_014793.4	NP_055608.2	O60294	TYW4_HUMAN	leucine carboxyl methyltransferase 2	556					tRNA processing (GO:0008033)		methyltransferase activity (GO:0008168)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|liver(1)|lung(9)|skin(1)|urinary_tract(1)	20		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.1e-07)	L-Leucine(DB00149)	AATGGCTCCTCAGAAGCCCCG	0.557																																						uc001zrg.2		NA																	0					0						c.(1666-1668)GAG>CAG		leucine carboxyl methyltransferase 2	L-Leucine(DB00149)						78.0	83.0	81.0					15																	43621022		2201	4299	6500	SO:0001583	missense	9836				tRNA processing		methyltransferase activity|protein binding	g.chr15:43621022C>G	AF265443	CCDS10094.1	15q15.3	2007-01-26			ENSG00000168806	ENSG00000168806			17558	protein-coding gene	gene with protein product	"""tRNA-yW synthesizing protein 4"""	611246				9628581, 17150819	Standard	NM_014793		Approved	KIAA0547, MGC9534, TYW4, PPM2	uc001zrg.3	O60294	OTTHUMG00000130705	ENST00000305641.5:c.1666G>C	15.37:g.43621022C>G	ENSP00000307214:p.Glu556Gln					LCMT2_uc010udn.1_Missense_Mutation_p.E135Q|ADAL_uc001zrh.2_5'Flank|ADAL_uc010udo.1_5'Flank	p.E556Q	NM_014793	NP_055608	O60294	LCMT2_HUMAN		GBM - Glioblastoma multiforme(94;8.1e-07)	1	1870	-		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)	556					Q4JFT6|Q96B55|Q9NR10	Missense_Mutation	SNP	ENST00000305641.5	37	c.1666G>C	CCDS10094.1	.	.	.	.	.	.	.	.	.	.	C	16.24	3.067682	0.55539	.	.	ENSG00000168806	ENST00000305641;ENST00000544735	T;T	0.66460	-0.21;-0.21	5.61	4.69	0.59074	Kelch-type beta propeller (1);	0.133436	0.50627	D	0.000113	T	0.73931	0.3650	L	0.56769	1.78	0.30354	N	0.784478	D	0.71674	0.998	D	0.66351	0.943	T	0.69658	-0.5086	10	0.14252	T	0.57	-21.1494	12.3058	0.54902	0.0:0.9181:0.0:0.0819	.	556	O60294	LCMT2_HUMAN	Q	556;135	ENSP00000307214:E556Q;ENSP00000442022:E135Q	ENSP00000307214:E556Q	E	-	1	0	LCMT2	41408314	1.000000	0.71417	0.880000	0.34516	0.986000	0.74619	5.834000	0.69361	1.385000	0.46445	0.655000	0.94253	GAG		0.557	LCMT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253205.1	NM_014793		9	121	0	0	0	0	9	121				
ZSCAN29	146050	broad.mit.edu	37	15	43653641	43653641	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr15:43653641C>T	ENST00000396976.2	-	5	2323	c.2189G>A	c.(2188-2190)gGa>gAa	p.G730E	ZSCAN29_ENST00000562072.1_3'UTR|ZSCAN29_ENST00000396972.1_Missense_Mutation_p.G341E|ZSCAN29_ENST00000568898.1_Missense_Mutation_p.G340E	NM_152455.3	NP_689668.3	Q8IWY8	ZSC29_HUMAN	zinc finger and SCAN domain containing 29	730					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)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(7)|skin(2)	24		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.97e-07)		AGGTTTCTCTCCTGTGTGGAT	0.433																																						uc001zrk.1		NA																	0				skin(1)	1						c.(2188-2190)GGA>GAA		zinc finger protein 690							80.0	77.0	78.0					15																	43653641		2201	4299	6500	SO:0001583	missense	146050				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr15:43653641C>T	AF525399	CCDS10095.2	15q15.3	2013-01-08	2007-03-08	2007-03-08	ENSG00000140265	ENSG00000140265		"""-"", ""Zinc fingers, C2H2-type"""	26673	protein-coding gene	gene with protein product			"""zinc finger protein 690"""	ZNF690		12434312	Standard	NM_152455		Approved	FLJ35867, Zfp690	uc001zrk.1	Q8IWY8	OTTHUMG00000130767	ENST00000396976.2:c.2189G>A	15.37:g.43653641C>T	ENSP00000380174:p.Gly730Glu					ZSCAN29_uc001zrj.1_Missense_Mutation_p.G610E|ZSCAN29_uc010bdf.1_3'UTR|ZSCAN29_uc001zrl.1_RNA|ZSCAN29_uc010bdg.1_Missense_Mutation_p.G340E	p.G730E	NM_152455	NP_689668	Q8IWY8	ZSC29_HUMAN		GBM - Glioblastoma multiforme(94;8.97e-07)	5	2336	-		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)	730					B3KVB9|Q32M75|Q32M76|Q8NA40	Missense_Mutation	SNP	ENST00000396976.2	37	c.2189G>A	CCDS10095.2	.	.	.	.	.	.	.	.	.	.	C	21.6	4.169097	0.78339	.	.	ENSG00000140265	ENST00000396976;ENST00000396972	T;T	0.25749	1.78;1.78	5.17	5.17	0.71159	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.64402	D	0.000009	T	0.41926	0.1180	L	0.37850	1.14	0.46356	D	0.999004	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.13656	-1.0501	10	0.51188	T	0.08	-16.0479	16.2243	0.82283	0.0:1.0:0.0:0.0	.	341;730	Q8IWY8-4;Q8IWY8	.;ZSC29_HUMAN	E	730;341	ENSP00000380174:G730E;ENSP00000380170:G341E	ENSP00000380170:G341E	G	-	2	0	ZSCAN29	41440933	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.677000	0.61634	2.683000	0.91414	0.655000	0.94253	GGA		0.433	ZSCAN29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253278.1	NM_152455		15	59	0	0	0	0	15	59				
DUOXA1	90527	broad.mit.edu	37	15	45415129	45415129	+	Silent	SNP	G	G	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr15:45415129G>A	ENST00000560572.1	-	1	89	c.84C>T	c.(82-84)atC>atT	p.I28I	DUOXA1_ENST00000430224.2_Silent_p.I28I|DUOXA1_ENST00000267803.4_Silent_p.I28I|DUOXA1_ENST00000558422.1_Silent_p.I28I|DUOXA1_ENST00000558996.1_Silent_p.I28I|DUOXA1_ENST00000559014.1_Silent_p.I28I	NM_001276266.1	NP_001263195.1	Q1HG43	DOXA1_HUMAN	dual oxidase maturation factor 1	28					hydrogen peroxide metabolic process (GO:0042743)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|protein transport (GO:0015031)|regulation of inflammatory response (GO:0050727)|regulation of thyroid hormone generation (GO:2000609)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	16		all_cancers(109;6.02e-08)|all_epithelial(112;1.83e-06)|Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)		all cancers(107;3.82e-18)|GBM - Glioblastoma multiforme(94;4.39e-07)|COAD - Colon adenocarcinoma(120;0.0676)|Colorectal(133;0.0686)		GAAAGATCATGATGATGCTGG	0.562																																						uc001zuq.1		NA																	0				ovary(1)	1						c.(82-84)ATC>ATT		Numb-interacting protein							155.0	127.0	137.0					15																	45415129		2198	4298	6496	SO:0001819	synonymous_variant	90527				protein transport	endoplasmic reticulum membrane|integral to membrane		g.chr15:45415129G>A	BC029819	CCDS10119.1, CCDS61619.1, CCDS61620.1, CCDS61621.1	15q21.1	2006-11-29	2006-01-23	2006-07-25	ENSG00000140254	ENSG00000140254			26507	protein-coding gene	gene with protein product		612771				16651268	Standard	NM_144565		Approved	FLJ32334, NUMBIP, NIP, mol	uc010bec.4	Q1HG43	OTTHUMG00000131352	ENST00000560572.1:c.84C>T	15.37:g.45415129G>A						DUOXA1_uc010uem.1_Silent_p.I28I|DUOXA1_uc001zup.2_Silent_p.I28I|DUOXA1_uc010bec.2_Silent_p.I28I|DUOXA1_uc001zur.1_Silent_p.I28I|DUOXA1_uc010bed.1_Silent_p.I28I	p.I28I	NM_144565	NP_653166	Q1HG43	DOXA1_HUMAN		all cancers(107;3.82e-18)|GBM - Glioblastoma multiforme(94;4.39e-07)|COAD - Colon adenocarcinoma(120;0.0676)|Colorectal(133;0.0686)	1	113	-		all_cancers(109;6.02e-08)|all_epithelial(112;1.83e-06)|Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)	28			Helical; (Potential).		Q8N6K9|Q96MI4	Silent	SNP	ENST00000560572.1	37	c.84C>T																																																																																					0.562	DUOXA1-005	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000416242.1	NM_144565		30	62	0	0	0	0	30	62				
SPATA5L1	79029	broad.mit.edu	37	15	45695714	45695714	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr15:45695714G>C	ENST00000305560.6	+	1	1186	c.1087G>C	c.(1087-1089)Gag>Cag	p.E363Q	GATM_ENST00000458245.5_5'Flank|SPATA5L1_ENST00000559860.1_Missense_Mutation_p.E363Q	NM_024063.2	NP_076968.2	Q9BVQ7	SPA5L_HUMAN	spermatogenesis associated 5-like 1	363						cytoplasm (GO:0005737)	ATP binding (GO:0005524)			kidney(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	14		Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)		all cancers(107;7.31e-17)|GBM - Glioblastoma multiforme(94;6.28e-07)		ATTTGACCGAGAGGTGAATGG	0.662																																						uc001zve.2		NA																	0				ovary(3)|skin(1)	4						c.(1087-1089)GAG>CAG		spermatogenesis associated 5-like 1							33.0	39.0	37.0					15																	45695714		2153	4214	6367	SO:0001583	missense	79029					cytoplasm	ATP binding|nucleoside-triphosphatase activity	g.chr15:45695714G>C	AK023232	CCDS10123.1	15q15.1	2010-04-21			ENSG00000171763	ENSG00000171763		"""ATPases / AAA-type"""	28762	protein-coding gene	gene with protein product						12477932	Standard	NM_024063		Approved	MGC5347, FLJ12286	uc001zve.3	Q9BVQ7	OTTHUMG00000131425	ENST00000305560.6:c.1087G>C	15.37:g.45695714G>C	ENSP00000305494:p.Glu363Gln					uc001zvd.2_5'Flank|SPATA5L1_uc001zvf.2_RNA	p.E363Q	NM_024063	NP_076968	Q9BVQ7	SPA5L_HUMAN		all cancers(107;7.31e-17)|GBM - Glioblastoma multiforme(94;6.28e-07)	1	1196	+		Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)	363					C9JHR5|Q9H8W7|Q9HA41	Missense_Mutation	SNP	ENST00000305560.6	37	c.1087G>C	CCDS10123.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.119413	0.77323	.	.	ENSG00000171763	ENST00000305560	D	0.94897	-3.55	4.81	4.81	0.61882	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	D	0.96694	0.8921	M	0.67953	2.075	0.47737	D	0.999505	D	0.89917	1.0	D	0.97110	1.0	D	0.97216	0.9874	10	0.87932	D	0	.	16.6214	0.84931	0.0:0.0:1.0:0.0	.	363	Q9BVQ7	SPA5L_HUMAN	Q	363	ENSP00000305494:E363Q	ENSP00000305494:E363Q	E	+	1	0	SPATA5L1	43483006	1.000000	0.71417	0.973000	0.42090	0.537000	0.34900	9.175000	0.94831	2.485000	0.83878	0.650000	0.86243	GAG		0.662	SPATA5L1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000254218.1	NM_024063		6	53	0	0	0	0	6	53				
USP50	373509	broad.mit.edu	37	15	50830917	50830917	+	Silent	SNP	G	G	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr15:50830917G>A	ENST00000532404.1	-	5	965	c.792C>T	c.(790-792)ttC>ttT	p.F264F	USP50_ENST00000530218.1_5'UTR	NM_203494.4	NP_987090.2	Q70EL3	UBP50_HUMAN	ubiquitin specific peptidase 50	269	USP.				ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitinyl hydrolase activity (GO:0036459)			breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(5)	13				all cancers(107;0.000519)|GBM - Glioblastoma multiforme(94;0.00288)		TTTTTAGGTGGAAAATAATTA	0.368																																						uc001zyq.3		NA																	0				lung(1)|breast(1)	2						c.(805-807)TTC>TTT		ubiquitin specific protease 50							51.0	47.0	48.0					15																	50830917		1818	4059	5877	SO:0001819	synonymous_variant	373509				ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity	g.chr15:50830917G>A	AI990110	CCDS53944.1	15q21.1	2008-02-05	2005-08-08			ENSG00000170236		"""Ubiquitin-specific peptidases"""	20079	protein-coding gene	gene with protein product			"""ubiquitin specific protease 50"""			12838346	Standard	NM_203494		Approved		uc021sky.1	Q70EL3		ENST00000532404.1:c.792C>T	15.37:g.50830917G>A							p.F269F	NM_203494	NP_987090	E9PP86	E9PP86_HUMAN		all cancers(107;0.000519)|GBM - Glioblastoma multiforme(94;0.00288)	5	987	-			264					E9PP86	Silent	SNP	ENST00000532404.1	37	c.807C>T	CCDS53944.1																																																																																				0.368	USP50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395249.1			6	5	0	0	0	0	6	5				
LDHAL6B	92483	broad.mit.edu	37	15	59499805	59499805	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr15:59499805G>C	ENST00000307144.4	+	1	764	c.666G>C	c.(664-666)ttG>ttC	p.L222F	MYO1E_ENST00000288235.4_Intron	NM_033195.2	NP_149972.1	Q9BYZ2	LDH6B_HUMAN	lactate dehydrogenase A-like 6B	222					cellular carbohydrate metabolic process (GO:0044262)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	L-lactate dehydrogenase activity (GO:0004459)	p.L222F(1)		endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|stomach(1)	10						TTCGTTTCTTGATTGGACAAA	0.438																																						uc002agb.2		NA																	1	Substitution - Missense(1)		ovary(1)		0						c.(664-666)TTG>TTC		lactate dehydrogenase A-like 6B	NADH(DB00157)						78.0	79.0	79.0					15																	59499805		2191	4290	6481	SO:0001583	missense	92483				glycolysis	cytoplasm	L-lactate dehydrogenase activity|protein binding	g.chr15:59499805G>C	AY009108	CCDS10171.1	15q21.3	2011-01-27	2004-07-27	2004-07-28	ENSG00000171989	ENSG00000171989			21481	protein-coding gene	gene with protein product			"""lactate dehydrogenase A-like 6"""	LDHAL6		15870898	Standard	NM_033195		Approved	LDHL, LDH6B	uc002agb.4	Q9BYZ2	OTTHUMG00000132714	ENST00000307144.4:c.666G>C	15.37:g.59499805G>C	ENSP00000302393:p.Leu222Phe					MYO1E_uc002aga.2_Intron	p.L222F	NM_033195	NP_149972	Q9BYZ2	LDH6B_HUMAN			1	764	+			222					Q6DUY4|Q96LI2	Missense_Mutation	SNP	ENST00000307144.4	37	c.666G>C	CCDS10171.1	.	.	.	.	.	.	.	.	.	.	G	12.13	1.844886	0.32606	.	.	ENSG00000171989	ENST00000307144	T	0.64085	-0.08	1.69	-2.6	0.06190	Lactate/malate dehydrogenase, C-terminal (1);Lactate dehydrogenase/glycoside hydrolase, family 4, C-terminal (2);	0.121275	0.32533	U	0.005972	T	0.52757	0.1754	M	0.71871	2.18	0.51767	D	0.99993	P	0.40660	0.726	B	0.41571	0.36	T	0.44360	-0.9333	10	0.49607	T	0.09	.	3.1767	0.06571	0.3105:0.0:0.4817:0.2078	.	222	Q9BYZ2	LDH6B_HUMAN	F	222	ENSP00000302393:L222F	ENSP00000302393:L222F	L	+	3	2	LDHAL6B	57287097	1.000000	0.71417	0.002000	0.10522	0.561000	0.35649	0.878000	0.28126	-0.497000	0.06641	0.305000	0.20034	TTG		0.438	LDHAL6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256015.1	NM_033195		16	72	0	0	0	0	16	72				
LDHAL6B	92483	broad.mit.edu	37	15	59499959	59499959	+	Missense_Mutation	SNP	G	G	C	rs139039522	byFrequency	TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr15:59499959G>C	ENST00000307144.4	+	1	918	c.820G>C	c.(820-822)Gag>Cag	p.E274Q	MYO1E_ENST00000288235.4_Intron	NM_033195.2	NP_149972.1	Q9BYZ2	LDH6B_HUMAN	lactate dehydrogenase A-like 6B	274					cellular carbohydrate metabolic process (GO:0044262)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	L-lactate dehydrogenase activity (GO:0004459)			endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|stomach(1)	10						TAAAGATCCTGAGCAATGGAA	0.433																																						uc002agb.2		NA																	0					0						c.(820-822)GAG>CAG		lactate dehydrogenase A-like 6B	NADH(DB00157)						67.0	67.0	67.0					15																	59499959		2191	4290	6481	SO:0001583	missense	92483				glycolysis	cytoplasm	L-lactate dehydrogenase activity|protein binding	g.chr15:59499959G>C	AY009108	CCDS10171.1	15q21.3	2011-01-27	2004-07-27	2004-07-28	ENSG00000171989	ENSG00000171989			21481	protein-coding gene	gene with protein product			"""lactate dehydrogenase A-like 6"""	LDHAL6		15870898	Standard	NM_033195		Approved	LDHL, LDH6B	uc002agb.4	Q9BYZ2	OTTHUMG00000132714	ENST00000307144.4:c.820G>C	15.37:g.59499959G>C	ENSP00000302393:p.Glu274Gln					MYO1E_uc002aga.2_Intron	p.E274Q	NM_033195	NP_149972	Q9BYZ2	LDH6B_HUMAN			1	918	+			274					Q6DUY4|Q96LI2	Missense_Mutation	SNP	ENST00000307144.4	37	c.820G>C	CCDS10171.1	.	.	.	.	.	.	.	.	.	.	G	16.13	3.036704	0.54896	.	.	ENSG00000171989	ENST00000307144	T	0.67865	-0.29	1.47	1.47	0.22746	Lactate/malate dehydrogenase, C-terminal (1);Lactate dehydrogenase/glycoside hydrolase, family 4, C-terminal (2);	0.082682	0.47852	U	0.000207	T	0.76919	0.4055	M	0.87682	2.9	0.39513	D	0.968385	D	0.61080	0.989	D	0.63033	0.91	T	0.75766	-0.3202	10	0.66056	D	0.02	.	3.8573	0.08981	0.245:0.0:0.755:0.0	.	274	Q9BYZ2	LDH6B_HUMAN	Q	274	ENSP00000302393:E274Q	ENSP00000302393:E274Q	E	+	1	0	LDHAL6B	57287251	0.998000	0.40836	0.011000	0.14972	0.862000	0.49288	3.078000	0.50096	0.784000	0.33661	0.305000	0.20034	GAG		0.433	LDHAL6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256015.1	NM_033195		9	61	0	0	0	0	9	61				
PDCD7	10081	broad.mit.edu	37	15	65412134	65412134	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr15:65412134C>G	ENST00000204549.4	-	3	1222	c.1168G>C	c.(1168-1170)Gaa>Caa	p.E390Q		NM_005707.1	NP_005698.1	Q8N8D1	PDCD7_HUMAN	programmed cell death 7	390					apoptotic process (GO:0006915)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of T cell apoptotic process (GO:0070234)|response to glucocorticoid (GO:0051384)|RNA splicing (GO:0008380)	U12-type spliceosomal complex (GO:0005689)				endometrium(4)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	7						tgtttcttttctaattctctt	0.373																																						uc002aol.2		NA																	0					0						c.(1168-1170)GAA>CAA		programmed cell death 7							51.0	55.0	54.0					15																	65412134		2202	4299	6501	SO:0001583	missense	10081				apoptosis|induction of apoptosis|response to glucocorticoid stimulus	U12-type spliceosomal complex		g.chr15:65412134C>G	AF083930	CCDS10201.1	15q22.2	2012-06-07			ENSG00000090470	ENSG00000090470			8767	protein-coding gene	gene with protein product	"""U11/U12 snRNP 59K"""	608138				10037816	Standard	NM_005707		Approved	HES18, ES18	uc002aol.3	Q8N8D1	OTTHUMG00000133117	ENST00000204549.4:c.1168G>C	15.37:g.65412134C>G	ENSP00000204549:p.Glu390Gln						p.E390Q	NM_005707	NP_005698	Q8N8D1	PDCD7_HUMAN			3	1223	-			390			Potential.		Q96AK8|Q9Y6D7	Missense_Mutation	SNP	ENST00000204549.4	37	c.1168G>C	CCDS10201.1	.	.	.	.	.	.	.	.	.	.	C	16.49	3.138500	0.56936	.	.	ENSG00000090470	ENST00000204549;ENST00000431964;ENST00000380204	.	.	.	5.18	5.18	0.71444	.	0.239460	0.33023	N	0.005369	T	0.65575	0.2704	N	0.25647	0.755	0.44352	D	0.997245	D	0.76494	0.999	D	0.72075	0.976	T	0.64884	-0.6302	9	0.38643	T	0.18	-11.8086	18.6738	0.91521	0.0:1.0:0.0:0.0	.	390	Q8N8D1	PDCD7_HUMAN	Q	390;175;184	.	ENSP00000204549:E390Q	E	-	1	0	PDCD7	63199187	1.000000	0.71417	0.997000	0.53966	0.998000	0.95712	6.290000	0.72712	2.550000	0.86006	0.563000	0.77884	GAA		0.373	PDCD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256784.2	NM_005707		12	55	0	0	0	0	12	55				
MAP2K1	5604	broad.mit.edu	37	15	66781559	66781559	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr15:66781559C>G	ENST00000307102.5	+	9	1498	c.967C>G	c.(967-969)Cca>Gca	p.P323A	CTD-3185P2.1_ENST00000565387.1_RNA|MAP2K1_ENST00000566326.1_Missense_Mutation_p.P147A|CTD-3185P2.2_ENST00000602360.1_RNA	NM_002755.3	NP_002746.1	Q02750	MP2K1_HUMAN	mitogen-activated protein kinase kinase 1	323	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cell proliferation (GO:0008283)|cellular component movement (GO:0006928)|cellular senescence (GO:0090398)|chemotaxis (GO:0006935)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|Golgi inheritance (GO:0048313)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|keratinocyte differentiation (GO:0030216)|labyrinthine layer development (GO:0060711)|MAPK cascade (GO:0000165)|melanosome transport (GO:0032402)|mitotic nuclear division (GO:0007067)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of cell proliferation (GO:0008285)|negative regulation of homotypic cell-cell adhesion (GO:0034111)|neurotrophin TRK receptor signaling pathway (GO:0048011)|placenta blood vessel development (GO:0060674)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell migration (GO:0030335)|positive regulation of gene expression (GO:0010628)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|protein heterooligomerization (GO:0051291)|Ras protein signal transduction (GO:0007265)|regulation of early endosome to late endosome transport (GO:2000641)|regulation of Golgi inheritance (GO:0090170)|regulation of stress-activated MAPK cascade (GO:0032872)|regulation of vascular smooth muscle contraction (GO:0003056)|response to axon injury (GO:0048678)|response to glucocorticoid (GO:0051384)|response to oxidative stress (GO:0006979)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|vesicle transport along microtubule (GO:0047496)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite cytoplasm (GO:0032839)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|late endosome (GO:0005770)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activator activity (GO:0043539)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine phosphatase activity (GO:0004728)			endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(8)|urinary_tract(1)	20					Bosutinib(DB06616)|Trametinib(DB08911)	GCAGCCTCCTCCAAAACTGCC	0.483																																						uc010bhq.2		NA																	0					0						c.(967-969)CCA>GCA		mitogen-activated protein kinase kinase 1							106.0	100.0	102.0					15																	66781559		2201	4299	6500	SO:0001583	missense	5604	Cardiofaciocutaneous_syndrome			activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|Ras protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|plasma membrane	ATP binding|MAP kinase kinase activity|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr15:66781559C>G	L11284	CCDS10216.1	15q22.1-q22.33	2014-09-17			ENSG00000169032	ENSG00000169032	2.7.12.2	"""Mitogen-activated protein kinase cascade / Kinase kinases"""	6840	protein-coding gene	gene with protein product		176872		PRKMK1		9465908, 8388392	Standard	NM_002755		Approved	MEK1, MAPKK1	uc010bhq.3	Q02750	OTTHUMG00000133196	ENST00000307102.5:c.967C>G	15.37:g.66781559C>G	ENSP00000302486:p.Pro323Ala					MAP2K1_uc010ujp.1_Missense_Mutation_p.P301A	p.P323A	NM_002755	NP_002746	Q02750	MP2K1_HUMAN			9	1442	+			323			Protein kinase.			Missense_Mutation	SNP	ENST00000307102.5	37	c.967C>G	CCDS10216.1	.	.	.	.	.	.	.	.	.	.	C	28.1	4.893541	0.91889	.	.	ENSG00000169032	ENST00000307102	D	0.93366	-3.21	5.63	5.63	0.86233	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	D	0.96577	0.8883	M	0.75777	2.31	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.83275	0.992;0.996	D	0.96755	0.9557	10	0.72032	D	0.01	-10.6761	18.2734	0.90076	0.0:1.0:0.0:0.0	.	301;323	B4DFY5;Q02750	.;MP2K1_HUMAN	A	323	ENSP00000302486:P323A	ENSP00000302486:P323A	P	+	1	0	MAP2K1	64568613	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	7.537000	0.82033	2.652000	0.90054	0.655000	0.94253	CCA		0.483	MAP2K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256906.4			18	60	0	0	0	0	18	60				
KIF23	9493	broad.mit.edu	37	15	69733362	69733362	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr15:69733362G>C	ENST00000260363.4	+	18	2440	c.2323G>C	c.(2323-2325)Gag>Cag	p.E775Q	KIF23_ENST00000352331.4_Intron|KIF23_ENST00000558585.1_Intron|KIF23_ENST00000395392.2_Missense_Mutation_p.E775Q|KIF23_ENST00000537891.1_Intron|KIF23_ENST00000559279.1_Intron	NM_138555.2	NP_612565.1	Q02241	KIF23_HUMAN	kinesin family member 23	775					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cytokinesis (GO:0000910)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle elongation (GO:0000022)|positive regulation of cytokinesis (GO:0032467)|spindle midzone assembly involved in mitosis (GO:0051256)	centralspindlin complex (GO:0097149)|centrosome (GO:0005813)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|intercellular bridge (GO:0045171)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)			central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(6)|prostate(2)|skin(1)	21						TGAAGGCAGGGAGGTGGTTCC	0.448																																						uc002asb.2		NA																	0					0						c.(2323-2325)GAG>CAG		kinesin family member 23 isoform 1							108.0	86.0	93.0					15																	69733362		2199	4298	6497	SO:0001583	missense	9493				blood coagulation|cytokinesis|microtubule-based movement|mitosis|mitotic spindle elongation	cytosol|kinesin complex|microtubule|midbody|nucleoplasm|spindle	ATP binding|microtubule motor activity|protein binding	g.chr15:69733362G>C	X67155	CCDS32278.1, CCDS32279.1	15q23	2008-03-03	2003-01-13	2003-01-17		ENSG00000137807		"""Kinesins"""	6392	protein-coding gene	gene with protein product		605064	"""kinesin-like 5 (mitotic kinesin-like protein 1)"""	KNSL5		1406973	Standard	NM_138555		Approved	MKLP1, MKLP-1	uc002asb.3	Q02241		ENST00000260363.4:c.2323G>C	15.37:g.69733362G>C	ENSP00000260363:p.Glu775Gln					KIF23_uc002asc.2_Intron|KIF23_uc010bii.2_Missense_Mutation_p.E665Q|KIF23_uc010ukc.1_Intron	p.E775Q	NM_138555	NP_612565	Q02241	KIF23_HUMAN			18	2440	+			775					Q8WVP0	Missense_Mutation	SNP	ENST00000260363.4	37	c.2323G>C	CCDS32278.1	.	.	.	.	.	.	.	.	.	.	G	16.85	3.237702	0.58886	.	.	ENSG00000137807	ENST00000260363;ENST00000395392	T;T	0.75154	-0.89;-0.91	5.21	5.21	0.72293	.	0.159733	0.41294	D	0.000919	T	0.55878	0.1948	N	0.08118	0	0.80722	D	1	P	0.42827	0.791	B	0.40864	0.342	T	0.58042	-0.7706	10	0.25751	T	0.34	.	13.8048	0.63223	0.0:0.1533:0.8466:0.0	.	775	Q02241	KIF23_HUMAN	Q	775	ENSP00000260363:E775Q;ENSP00000378790:E775Q	ENSP00000260363:E775Q	E	+	1	0	KIF23	67520416	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.881000	0.75584	2.595000	0.87683	0.555000	0.69702	GAG		0.448	KIF23-201	KNOWN	basic|CCDS	protein_coding	protein_coding				5	42	0	0	0	0	5	42				
PKM	5315	broad.mit.edu	37	15	72499611	72499611	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr15:72499611C>T	ENST00000335181.5	-	7	947	c.844G>A	c.(844-846)Gaa>Aaa	p.E282K	PKM_ENST00000449901.2_Missense_Mutation_p.E267K|PKM_ENST00000568459.1_Missense_Mutation_p.E282K|PKM_ENST00000565154.1_Missense_Mutation_p.E282K|PKM_ENST00000389093.3_Missense_Mutation_p.E282K|PKM_ENST00000565184.1_Missense_Mutation_p.E282K|PKM_ENST00000568883.1_Missense_Mutation_p.E117K|PKM_ENST00000319622.6_Missense_Mutation_p.E282K	NM_002654.4	NP_002645.3	P14618	KPYM_HUMAN	pyruvate kinase, muscle	282					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|programmed cell death (GO:0012501)|small molecule metabolic process (GO:0044281)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MHC class II protein complex binding (GO:0023026)|poly(A) RNA binding (GO:0044822)|potassium ion binding (GO:0030955)|pyruvate kinase activity (GO:0004743)			endometrium(1)|lung(7)	8					Pyruvic acid(DB00119)	TCCAGGATTTCATCAAACCTG	0.478																																						uc002atx.1		NA																	0				breast(1)	1						c.(844-846)GAA>AAA		pyruvate kinase, muscle isoform M1	Pyruvic acid(DB00119)						51.0	49.0	49.0					15																	72499611		2199	4297	6496	SO:0001583	missense	5315				glycolysis|programmed cell death	cytosol|nucleus|plasma membrane	ATP binding|magnesium ion binding|potassium ion binding|protein binding|pyruvate kinase activity	g.chr15:72499611C>T	M23725	CCDS32284.1, CCDS32285.1, CCDS55972.1, CCDS73752.1	15q23	2012-10-02		2012-05-23	ENSG00000067225	ENSG00000067225	2.7.1.40		9021	protein-coding gene	gene with protein product		179050		PKM2		2040271	Standard	NM_002654		Approved	THBP1, OIP3, PK3	uc002atr.1	P14618	OTTHUMG00000172709	ENST00000335181.5:c.844G>A	15.37:g.72499611C>T	ENSP00000334983:p.Glu282Lys					PKM2_uc002ats.1_5'Flank|PKM2_uc002att.1_Missense_Mutation_p.E48K|PKM2_uc002atu.1_Missense_Mutation_p.E48K|PKM2_uc010bit.1_Missense_Mutation_p.E287K|PKM2_uc010uki.1_Missense_Mutation_p.E356K|PKM2_uc002atv.1_Missense_Mutation_p.E317K|PKM2_uc002atw.1_Missense_Mutation_p.E282K|PKM2_uc002aty.1_Missense_Mutation_p.E282K|PKM2_uc010ukj.1_Missense_Mutation_p.E267K|PKM2_uc010ukk.1_Missense_Mutation_p.E208K|PKM2_uc010biu.1_Missense_Mutation_p.E303K|PKM2_uc002atz.1_RNA	p.E282K	NM_182471	NP_872271	P14618	KPYM_HUMAN			7	1085	-			282					A6NFK3|B2R5N8|B3KRY0|B4DFX8|B4DUU6|P14786|Q53GK4|Q96E76|Q9BWB5|Q9UCV6|Q9UPF2	Missense_Mutation	SNP	ENST00000335181.5	37	c.844G>A	CCDS32284.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.229933	0.79688	.	.	ENSG00000067225	ENST00000319622;ENST00000335181;ENST00000434220;ENST00000327974;ENST00000389093;ENST00000449901	T;T;T;T	0.69685	-0.42;-0.42;-0.42;-0.42	4.93	4.93	0.64822	Pyruvate/Phosphoenolpyruvate kinase (2);Pyruvate kinase, barrel (1);	0.052691	0.85682	D	0.000000	T	0.77498	0.4139	M	0.87900	2.915	0.80722	D	1	B;B;B;B;B;B;B;B;B	0.31752	0.338;0.175;0.007;0.052;0.029;0.006;0.119;0.182;0.119	B;B;B;B;B;B;B;B;B	0.40038	0.21;0.317;0.045;0.137;0.178;0.027;0.151;0.14;0.226	T	0.80852	-0.1197	10	0.72032	D	0.01	-19.2714	18.5077	0.90904	0.0:1.0:0.0:0.0	.	208;267;262;262;282;282;117;209;117	B4DNK4;B4DUU6;B4DRT3;E7EUQ8;P14618;P14618-2;Q504U3;E9PF79;E7EUJ4	.;.;.;.;KPYM_HUMAN;.;.;.;.	K	282;282;209;117;282;267	ENSP00000320171:E282K;ENSP00000334983:E282K;ENSP00000373745:E282K;ENSP00000403365:E267K	ENSP00000320171:E282K	E	-	1	0	PKM2	70286665	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	7.810000	0.86072	2.432000	0.82394	0.561000	0.74099	GAA		0.478	PKM-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420056.1			15	46	0	0	0	0	15	46				
CELF6	60677	broad.mit.edu	37	15	72608214	72608214	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr15:72608214G>A	ENST00000569547.1	-	2	388	c.317C>T	c.(316-318)gCa>gTa	p.A106V	CELF6_ENST00000287202.5_Missense_Mutation_p.A106V|CELF6_ENST00000567083.1_Missense_Mutation_p.A106V|RP11-106M3.2_ENST00000379915.4_RNA|CELF6_ENST00000539635.1_5'UTR|RP11-106M3.3_ENST00000570175.1_RNA			Q96J87	CELF6_HUMAN	CUGBP, Elav-like family member 6	106	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA processing (GO:0006397)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(2)	13						CTCGTGCAGTGCACTCTGGGC	0.627																																						uc002auh.2		NA																	0				large_intestine(1)|central_nervous_system(1)|skin(1)	3						c.(316-318)GCA>GTA		bruno-like 6, RNA binding protein							39.0	37.0	38.0					15																	72608214		2199	4297	6496	SO:0001583	missense	60677				mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nucleus	nucleotide binding|RNA binding	g.chr15:72608214G>A	AF425606	CCDS10242.1, CCDS53955.1, CCDS53956.1	15q24	2013-02-12	2010-02-19	2010-02-19	ENSG00000140488	ENSG00000140488		"""RNA binding motif (RRM) containing"""	14059	protein-coding gene	gene with protein product		612681	"""Bruno (Drosophila) -like 6, RNA binding protein"", ""bruno-like 6, RNA binding protein (Drosophila)"""	BRUNOL6		10893231	Standard	NM_052840		Approved		uc002auh.2	Q96J87	OTTHUMG00000133444	ENST00000569547.1:c.317C>T	15.37:g.72608214G>A	ENSP00000454749:p.Ala106Val					uc002aug.2_Intron|CELF6_uc002auk.3_RNA|CELF6_uc010biv.1_RNA|CELF6_uc010ukm.1_Missense_Mutation_p.A106V|CELF6_uc002aui.2_Silent_p.C228C|CELF6_uc002auj.2_5'UTR	p.A106V	NM_052840	NP_443072	Q96J87	CELF6_HUMAN			2	627	-			106			RRM 1.		B4DG28|B4DJB6|Q6PII4|Q6ZNJ7|Q8N607	Missense_Mutation	SNP	ENST00000569547.1	37	c.317C>T	CCDS10242.1	.	.	.	.	.	.	.	.	.	.	G	27.2	4.808936	0.90707	.	.	ENSG00000140488	ENST00000287202;ENST00000437872	T	0.18810	2.19	5.95	5.95	0.96441	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.43919	U	0.000517	T	0.48786	0.1519	M	0.73372	2.23	0.80722	D	1	D;P	0.76494	0.999;0.61	D;B	0.76575	0.988;0.102	T	0.40813	-0.9543	10	0.72032	D	0.01	-4.9745	18.957	0.92662	0.0:0.0:1.0:0.0	.	106;106	B4DJB6;Q96J87	.;CELF6_HUMAN	V	106	ENSP00000287202:A106V	ENSP00000287202:A106V	A	-	2	0	CELF6	70395268	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.549000	0.82163	2.824000	0.97209	0.655000	0.94253	GCA		0.627	CELF6-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	protein_coding	OTTHUMT00000420180.1	NM_052840		7	13	0	0	0	0	7	13				
TMEM202	338949	broad.mit.edu	37	15	72691140	72691140	+	Silent	SNP	A	A	G			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr15:72691140A>G	ENST00000341689.3	+	2	282	c.228A>G	c.(226-228)ccA>ccG	p.P76P	TMEM202_ENST00000567679.1_Intron	NM_001080462.1	NP_001073931.1	A6NGA9	TM202_HUMAN	transmembrane protein 202	76						integral component of membrane (GO:0016021)				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	18						CCATGTCCCCACTGAACTGGG	0.527																																						uc002auq.2		NA																	0				central_nervous_system(1)|skin(1)	2						c.(226-228)CCA>CCG		transmembrane protein 202							142.0	109.0	120.0					15																	72691140		2199	4297	6496	SO:0001819	synonymous_variant	338949					integral to membrane		g.chr15:72691140A>G		CCDS32287.1	15q24.1	2007-12-18				ENSG00000187806			33733	protein-coding gene	gene with protein product							Standard	NM_001080462		Approved	FLJ27523	uc002auq.3	A6NGA9		ENST00000341689.3:c.228A>G	15.37:g.72691140A>G						TMEM202_uc002aur.2_Intron	p.P76P	NM_001080462	NP_001073931	A6NGA9	TM202_HUMAN			2	228	+			76						Silent	SNP	ENST00000341689.3	37	c.228A>G	CCDS32287.1																																																																																				0.527	TMEM202-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435756.1	NM_001080462		26	56	0	0	0	0	26	56				
STRA6	64220	broad.mit.edu	37	15	74477352	74477352	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr15:74477352G>C	ENST00000323940.5	-	13	1380	c.1135C>G	c.(1135-1137)Ctg>Gtg	p.L379V	STRA6_ENST00000563965.1_Missense_Mutation_p.L418V|STRA6_ENST00000449139.2_Missense_Mutation_p.L379V|STRA6_ENST00000423167.2_Missense_Mutation_p.L370V|STRA6_ENST00000574439.1_5'UTR|STRA6_ENST00000535552.1_Missense_Mutation_p.L416V|STRA6_ENST00000416286.3_Missense_Mutation_p.L371V|STRA6_ENST00000395105.4_Missense_Mutation_p.L379V|STRA6_ENST00000574278.1_Missense_Mutation_p.L394V	NM_001142617.1|NM_001142618.1|NM_001142619.1	NP_001136089.1|NP_001136090.1|NP_001136091.1	Q9BX79	STRA6_HUMAN	stimulated by retinoic acid 6	379					adrenal gland development (GO:0030325)|alveolar primary septum development (GO:0061143)|artery morphogenesis (GO:0048844)|blood vessel development (GO:0001568)|cognition (GO:0050890)|developmental growth (GO:0048589)|diaphragm development (GO:0060539)|digestive tract morphogenesis (GO:0048546)|ductus arteriosus closure (GO:0097070)|ear development (GO:0043583)|embryonic camera-type eye formation (GO:0060900)|embryonic digestive tract development (GO:0048566)|eyelid development in camera-type eye (GO:0061029)|face morphogenesis (GO:0060325)|feeding behavior (GO:0007631)|female genitalia development (GO:0030540)|head development (GO:0060322)|head morphogenesis (GO:0060323)|heart development (GO:0007507)|kidney development (GO:0001822)|learning (GO:0007612)|lung alveolus development (GO:0048286)|lung development (GO:0030324)|lung vasculature development (GO:0060426)|neuromuscular process (GO:0050905)|nose morphogenesis (GO:0043585)|paramesonephric duct development (GO:0061205)|phototransduction, visible light (GO:0007603)|positive regulation of behavior (GO:0048520)|positive regulation of JAK-STAT cascade (GO:0046427)|pulmonary artery morphogenesis (GO:0061156)|pulmonary valve morphogenesis (GO:0003184)|retinoic acid metabolic process (GO:0042573)|retinoid metabolic process (GO:0001523)|retinol transport (GO:0034633)|smooth muscle tissue development (GO:0048745)|uterus morphogenesis (GO:0061038)|ventricular septum development (GO:0003281)|vitamin A import (GO:0071939)|vocal learning (GO:0042297)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	receptor activity (GO:0004872)|vitamin transporter activity (GO:0051183)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(5)|skin(1)|stomach(2)	26						ATCAGGACCAGGAAGGTGAGT	0.597																																						uc002axk.2		NA																	0				central_nervous_system(1)	1						c.(1135-1137)CTG>GTG		stimulated by retinoic acid gene 6 homolog							178.0	147.0	158.0					15																	74477352		2198	4297	6495	SO:0001583	missense	64220				adrenal gland development|alveolar primary septum development|developmental growth|diaphragm development|digestive tract morphogenesis|ear development|embryonic camera-type eye formation|embryonic digestive tract development|eyelid development in camera-type eye|face morphogenesis|feeding behavior|female genitalia development|kidney development|lung vasculature development|neuromuscular process|nose morphogenesis|paramesonephric duct development|positive regulation of behavior|pulmonary artery morphogenesis|pulmonary valve morphogenesis|smooth muscle tissue development|transport|uterus morphogenesis|ventricular septum development|vocal learning	integral to membrane|plasma membrane|protein complex	receptor activity	g.chr15:74477352G>C	AF352728	CCDS10261.1, CCDS45301.1, CCDS45302.1, CCDS55973.1, CCDS55974.1, CCDS58387.1	15q24.1	2014-07-14	2012-12-07		ENSG00000137868	ENSG00000137868			30650	protein-coding gene	gene with protein product	"""retinol binding protein 4 receptor"""	610745	"""stimulated by retinoic acid gene 6 homolog (mouse)"", ""stimulated by retinoic acid 6 homolog (mouse)"""			17255476, 17273977	Standard	NM_022369		Approved	FLJ12541	uc002axj.3	Q9BX79	OTTHUMG00000138998	ENST00000323940.5:c.1135C>G	15.37:g.74477352G>C	ENSP00000326085:p.Leu379Val					STRA6_uc002axi.2_Missense_Mutation_p.L188V|STRA6_uc010ulh.1_Missense_Mutation_p.L417V|STRA6_uc002axj.2_Missense_Mutation_p.L418V|STRA6_uc010bji.2_Missense_Mutation_p.L379V|STRA6_uc002axl.2_Missense_Mutation_p.L311V|STRA6_uc002axm.2_Missense_Mutation_p.L379V|STRA6_uc002axn.2_Missense_Mutation_p.L370V|STRA6_uc010uli.1_Missense_Mutation_p.L416V|STRA6_uc010bjj.1_RNA	p.L379V	NM_022369	NP_071764	Q9BX79	STRA6_HUMAN			13	1317	-			379			Helical; (Potential).		A8K7F1|B7Z5M9|B7Z862|D3DW54|F5GYI8|I3L1G8|Q6PJF8|Q71RB9|Q7L9G1|Q7Z3U9|Q8TB21|Q9BX78|Q9H9U8	Missense_Mutation	SNP	ENST00000323940.5	37	c.1135C>G	CCDS10261.1	.	.	.	.	.	.	.	.	.	.	G	12.81	2.048617	0.36181	.	.	ENSG00000137868	ENST00000395105;ENST00000323940;ENST00000416286;ENST00000545137;ENST00000449139;ENST00000423167;ENST00000535552;ENST00000536129	T;T;T;T	0.80480	-1.38;-1.38;-1.38;-1.38	5.0	2.09	0.27110	.	0.660669	0.15332	N	0.267967	T	0.77961	0.4209	L	0.55103	1.725	0.80722	D	1	P;P;P;P;P;D	0.59767	0.907;0.907;0.907;0.907;0.907;0.986	P;P;P;P;P;P	0.56163	0.648;0.648;0.574;0.574;0.648;0.793	T	0.72327	-0.4327	10	0.20519	T	0.43	-18.0332	0.9114	0.01295	0.3275:0.1512:0.3655:0.1558	.	416;417;370;379;418;188	F5GYI8;B7Z5G7;Q9BX79-3;Q9BX79;Q9BX79-4;B3KRT6	.;.;.;STRA6_HUMAN;.;.	V	379;379;311;188;418;370;416;269	ENSP00000378537:L379V;ENSP00000326085:L379V;ENSP00000413012:L370V;ENSP00000440238:L416V	ENSP00000326085:L379V	L	-	1	2	STRA6	72264405	0.055000	0.20627	0.898000	0.35279	0.969000	0.65631	-0.049000	0.11924	0.516000	0.28340	0.561000	0.74099	CTG		0.597	STRA6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272891.1			10	36	0	0	0	0	10	36				
CYP1A2	1544	broad.mit.edu	37	15	75044189	75044189	+	Missense_Mutation	SNP	G	G	C	rs574824024		TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr15:75044189G>C	ENST00000343932.4	+	4	1099	c.1036G>C	c.(1036-1038)Gag>Cag	p.E346Q		NM_000761.3	NP_000752.2	P05177	CP1A2_HUMAN	cytochrome P450, family 1, subfamily A, polypeptide 2	346					alkaloid metabolic process (GO:0009820)|arachidonic acid metabolic process (GO:0019369)|cellular respiration (GO:0045333)|cellular response to cadmium ion (GO:0071276)|dibenzo-p-dioxin metabolic process (GO:0018894)|drug catabolic process (GO:0042737)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|exogenous drug catabolic process (GO:0042738)|heterocycle metabolic process (GO:0046483)|hydrogen peroxide biosynthetic process (GO:0050665)|lung development (GO:0030324)|methylation (GO:0032259)|monocarboxylic acid metabolic process (GO:0032787)|monoterpenoid metabolic process (GO:0016098)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|oxidative deethylation (GO:0071615)|oxidative demethylation (GO:0070989)|porphyrin-containing compound metabolic process (GO:0006778)|post-embryonic development (GO:0009791)|regulation of gene expression (GO:0010468)|response to estradiol (GO:0032355)|response to lipopolysaccharide (GO:0032496)|small molecule metabolic process (GO:0044281)|steroid catabolic process (GO:0006706)|toxin biosynthetic process (GO:0009403)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	aromatase activity (GO:0070330)|caffeine oxidase activity (GO:0034875)|demethylase activity (GO:0032451)|electron carrier activity (GO:0009055)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33					"""""""Insulin(DB00071)|Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Agomelatine(DB06594)|Albendazole(DB00518)|Alitretinoin(DB00523)|Almotriptan(DB00918)|Alosetron(DB00969)|Aminoglutethimide(DB00357)|Aminophenazone(DB01424)|Aminophylline(DB01223)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Anagrelide(DB00261)|Anastrozole(DB01217)|Antipyrine(DB01435)|Apixaban(DB06605)|Aprepitant(DB00673)|Asenapine(DB06216)|Atropine(DB00572)|Axitinib(DB06626)|Azelastine(DB00972)|Azithromycin(DB00207)|Benzyl alcohol(DB06770)|Betaxolol(DB00195)|Bortezomib(DB00188)|Bromazepam(DB01558)|Bromocriptine(DB01200)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Bupropion(DB01156)|Caffeine(DB00201)|Carbamazepine(DB00564)|Carmustine(DB00262)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Cinnarizine(DB00568)|Ciprofloxacin(DB00537)|Cisapride(DB00604)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clenbuterol(DB01407)|Clevidipine(DB04920)|Clobetasol propionate(DB01013)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Conjugated Estrogens(DB00286)|Cyclobenzaprine(DB00924)|Dacarbazine(DB00851)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Delavirdine(DB00705)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexfenfluramine(DB01191)|Dexmedetomidine(DB00633)|Diazepam(DB00829)|Diclofenac(DB00586)|Dinoprostone(DB00917)|Diphenhydramine(DB01075)|Domperidone(DB01184)|Dopamine(DB00988)|Doxepin(DB01142)|Duloxetine(DB00476)|Edetic Acid(DB00974)|Efavirenz(DB00625)|Eltrombopag(DB06210)|Enoxacin(DB00467)|Epinephrine(DB00668)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estrone(DB00655)|Estropipate(DB04574)|Ethanol(DB00898)|Etoposide(DB00773)|Etoricoxib(DB01628)|Flunarizine(DB04841)|Flunitrazepam(DB01544)|Fluorouracil(DB00544)|Fluoxetine(DB00472)|Fluphenazine(DB00623)|Flutamide(DB00499)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Frovatriptan(DB00998)|Gemfibrozil(DB01241)|Griseofulvin(DB00400)|Guanabenz(DB00629)|Haloperidol(DB00502)|Hesperetin(DB01094)|Hexobarbital(DB01355)|Iloperidone(DB04946)|Imatinib(DB00619)|Imipramine(DB00458)|Imiquimod(DB00724)|inhaled insulin(DB05278)|Insulin Aspart(DB01306)|Insulin Detemir(DB01307)|Insulin Glargine(DB00047)|Insulin Glulisine(DB01309)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Irbesartan(DB01029)|Isoniazid(DB00951)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Leflunomide(DB01097)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Lopinavir(DB01601)|Lorcaserin(DB04871)|Losartan(DB00678)|Lumiracoxib(DB01283)|Malathion(DB00772)|Maprotiline(DB00934)|Meclizine(DB00737)|Melatonin(DB01065)|Menadione(DB00170)|Methadone(DB00333)|Methimazole(DB00763)|Methotrimeprazine(DB01403)|Methoxsalen(DB00553)|Methoxyflurane(DB01028)|Mexiletine(DB00379)|Mianserin(DB06148)|Miconazole(DB01110)|Mirtazapine(DB00370)|Moclobemide(DB01171)|Modafinil(DB00745)|Nabumetone(DB00461)|Nafcillin(DB00607)|Naproxen(DB00788)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Niclosamide(DB06803)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nisoldipine(DB00401)|Nitric Oxide(DB00435)|Nitroprusside(DB00325)|Norepinephrine(DB00368)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ofloxacin(DB01165)|Olanzapine(DB00334)|Omeprazole(DB00338)|Ondansetron(DB00904)|Oxaliplatin(DB00526)|Oxtriphylline(DB01303)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Pazopanib(DB06589)|Pefloxacin(DB00487)|Pentamidine(DB00738)|Pentoxifylline(DB00806)|Perphenazine(DB00850)|Phenobarbital(DB01174)|Phentermine(DB00191)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Pimozide(DB01100)|Pipotiazine(DB01621)|Pomalidomide(DB08910)|Praziquantel(DB01058)|Primaquine(DB01087)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Propafenone(DB01182)|Propofol(DB00818)|Propranolol(DB00571)|Pyrazinamide(DB00339)|Quinidine(DB00908)|Quinine(DB00468)|Rabeprazole(DB01129)|Ramelteon(DB00980)|Ranitidine(DB00863)|Rasagiline(DB01367)|Rifabutin(DB00615)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Riluzole(DB00740)|Ritonavir(DB00503)|Rizatriptan(DB00953)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Rosiglitazone(DB00412)|Rotigotine(DB05271)|Roxithromycin(DB00778)|Secobarbital(DB00418)|Selegiline(DB01037)|Sertraline(DB01104)|SIMEPREVIR(DB06290)|Sorafenib(DB00398)|Streptozocin(DB00428)|Sulindac(DB00605)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Tenofovir(DB00300)|Terbinafine(DB00857)|Thalidomide(DB01041)|Theobromine(DB01412)|Theophylline(DB00277)|Thiabendazole(DB00730)|Thioridazine(DB00679)|Thiothixene(DB01623)|Ticlopidine(DB00208)|Tioconazole(DB01007)|Tizanidine(DB00697)|Tocainide(DB01056)|Toremifene(DB00539)|Tranylcypromine(DB00752)|Triamterene(DB00384)|Trifluoperazine(DB00831)|Valproic Acid(DB00313)|Vemurafenib(DB08881)|Verapamil(DB00661)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)|Zolpidem(DB00425)"""	GATCCAGAAGGAGCTGGGTAC	0.522																																						uc002ayr.1		NA																	0				ovary(3)|breast(1)	4						c.(1036-1038)GAG>CAG		cytochrome P450, family 1, subfamily A,	Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Aciclovir(DB00787)|Alosetron(DB00969)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Anagrelide(DB00261)|Azelastine(DB00972)|Bortezomib(DB00188)|Caffeine(DB00201)|Carmustine(DB00262)|Chlordiazepoxide(DB00475)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Ciprofloxacin(DB00537)|Clomipramine(DB01242)|Clotrimazole(DB00257)|Clozapine(DB00363)|Conjugated Estrogens(DB00286)|Cyclobenzaprine(DB00924)|Dacarbazine(DB00851)|Desloratadine(DB00967)|Diazepam(DB00829)|Dibucaine(DB00527)|Diclofenac(DB00586)|Duloxetine(DB00476)|Enoxacin(DB00467)|Esomeprazole(DB00736)|Estradiol(DB00783)|Estrone(DB00655)|Fluorouracil(DB00544)|Flutamide(DB00499)|Fluvoxamine(DB00176)|Frovatriptan(DB00998)|Grepafloxacin(DB00365)|Haloperidol(DB00502)|Hesperetin(DB01094)|Imipramine(DB00458)|Ketoconazole(DB01026)|Leflunomide(DB01097)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Melatonin(DB01065)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mirtazapine(DB00370)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ofloxacin(DB01165)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Pefloxacin(DB00487)|Pimozide(DB01100)|Propafenone(DB01182)|Propranolol(DB00571)|Quinidine(DB00908)|Ramelteon(DB00980)|Ranitidine(DB00863)|Rasagiline(DB01367)|Rifampin(DB01045)|Riluzole(DB00740)|Rofecoxib(DB00533)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Tacrine(DB00382)|Telithromycin(DB00976)|Terfenadine(DB00342)|Theophylline(DB00277)|Thiabendazole(DB00730)|Tizanidine(DB00697)|Tolbutamide(DB01124)|Verapamil(DB00661)|Warfarin(DB00682)|Zileuton(DB00744)|Zolmitriptan(DB00315)						92.0	87.0	89.0					15																	75044189		2197	4296	6493	SO:0001583	missense	1544				alkaloid metabolic process|exogenous drug catabolic process|methylation|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative deethylation|oxidative demethylation|steroid catabolic process|toxin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|demethylase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding	g.chr15:75044189G>C	AF182274	CCDS32293.1	15q24.1	2013-11-11	2003-01-14		ENSG00000140505	ENSG00000140505	1.14.14.1	"""Cytochrome P450s"""	2596	protein-coding gene	gene with protein product		124060	"""cytochrome P450, subfamily I (aromatic compound-inducible), polypeptide 2"""			15128046	Standard	NM_000761		Approved	P3-450, CP12	uc002ayr.1	P05177	OTTHUMG00000172901	ENST00000343932.4:c.1036G>C	15.37:g.75044189G>C	ENSP00000342007:p.Glu346Gln						p.E346Q	NM_000761	NP_000752	P05177	CP1A2_HUMAN			4	1100	+			346					Q16754|Q6NWU5|Q9BXX7|Q9UK49	Missense_Mutation	SNP	ENST00000343932.4	37	c.1036G>C	CCDS32293.1	.	.	.	.	.	.	.	.	.	.	G	18.05	3.536301	0.65085	.	.	ENSG00000140505	ENST00000343932	D	0.92397	-3.03	4.67	4.67	0.58626	.	0.093644	0.64402	D	0.000001	D	0.96546	0.8873	H	0.94808	3.585	0.80722	D	1	D	0.62365	0.991	P	0.57425	0.82	D	0.97098	0.9795	10	0.49607	T	0.09	.	17.7835	0.88531	0.0:0.0:1.0:0.0	.	346	P05177-2	.	Q	346	ENSP00000342007:E346Q	ENSP00000342007:E346Q	E	+	1	0	CYP1A2	72831242	1.000000	0.71417	1.000000	0.80357	0.276000	0.26787	7.136000	0.77285	2.422000	0.82143	0.450000	0.29827	GAG		0.522	CYP1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421263.2	NM_000761		16	70	0	0	0	0	16	70				
CYP1A2	1544	broad.mit.edu	37	15	75047131	75047131	+	Splice_Site	SNP	G	G	C			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr15:75047131G>C	ENST00000343932.4	+	7	1316		c.e7-1			NM_000761.3	NP_000752.2	P05177	CP1A2_HUMAN	cytochrome P450, family 1, subfamily A, polypeptide 2						alkaloid metabolic process (GO:0009820)|arachidonic acid metabolic process (GO:0019369)|cellular respiration (GO:0045333)|cellular response to cadmium ion (GO:0071276)|dibenzo-p-dioxin metabolic process (GO:0018894)|drug catabolic process (GO:0042737)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|exogenous drug catabolic process (GO:0042738)|heterocycle metabolic process (GO:0046483)|hydrogen peroxide biosynthetic process (GO:0050665)|lung development (GO:0030324)|methylation (GO:0032259)|monocarboxylic acid metabolic process (GO:0032787)|monoterpenoid metabolic process (GO:0016098)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|oxidative deethylation (GO:0071615)|oxidative demethylation (GO:0070989)|porphyrin-containing compound metabolic process (GO:0006778)|post-embryonic development (GO:0009791)|regulation of gene expression (GO:0010468)|response to estradiol (GO:0032355)|response to lipopolysaccharide (GO:0032496)|small molecule metabolic process (GO:0044281)|steroid catabolic process (GO:0006706)|toxin biosynthetic process (GO:0009403)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	aromatase activity (GO:0070330)|caffeine oxidase activity (GO:0034875)|demethylase activity (GO:0032451)|electron carrier activity (GO:0009055)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33					"""""""Insulin(DB00071)|Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Agomelatine(DB06594)|Albendazole(DB00518)|Alitretinoin(DB00523)|Almotriptan(DB00918)|Alosetron(DB00969)|Aminoglutethimide(DB00357)|Aminophenazone(DB01424)|Aminophylline(DB01223)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Anagrelide(DB00261)|Anastrozole(DB01217)|Antipyrine(DB01435)|Apixaban(DB06605)|Aprepitant(DB00673)|Asenapine(DB06216)|Atropine(DB00572)|Axitinib(DB06626)|Azelastine(DB00972)|Azithromycin(DB00207)|Benzyl alcohol(DB06770)|Betaxolol(DB00195)|Bortezomib(DB00188)|Bromazepam(DB01558)|Bromocriptine(DB01200)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Bupropion(DB01156)|Caffeine(DB00201)|Carbamazepine(DB00564)|Carmustine(DB00262)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Cinnarizine(DB00568)|Ciprofloxacin(DB00537)|Cisapride(DB00604)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clenbuterol(DB01407)|Clevidipine(DB04920)|Clobetasol propionate(DB01013)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Conjugated Estrogens(DB00286)|Cyclobenzaprine(DB00924)|Dacarbazine(DB00851)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Delavirdine(DB00705)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexfenfluramine(DB01191)|Dexmedetomidine(DB00633)|Diazepam(DB00829)|Diclofenac(DB00586)|Dinoprostone(DB00917)|Diphenhydramine(DB01075)|Domperidone(DB01184)|Dopamine(DB00988)|Doxepin(DB01142)|Duloxetine(DB00476)|Edetic Acid(DB00974)|Efavirenz(DB00625)|Eltrombopag(DB06210)|Enoxacin(DB00467)|Epinephrine(DB00668)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estrone(DB00655)|Estropipate(DB04574)|Ethanol(DB00898)|Etoposide(DB00773)|Etoricoxib(DB01628)|Flunarizine(DB04841)|Flunitrazepam(DB01544)|Fluorouracil(DB00544)|Fluoxetine(DB00472)|Fluphenazine(DB00623)|Flutamide(DB00499)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Frovatriptan(DB00998)|Gemfibrozil(DB01241)|Griseofulvin(DB00400)|Guanabenz(DB00629)|Haloperidol(DB00502)|Hesperetin(DB01094)|Hexobarbital(DB01355)|Iloperidone(DB04946)|Imatinib(DB00619)|Imipramine(DB00458)|Imiquimod(DB00724)|inhaled insulin(DB05278)|Insulin Aspart(DB01306)|Insulin Detemir(DB01307)|Insulin Glargine(DB00047)|Insulin Glulisine(DB01309)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Irbesartan(DB01029)|Isoniazid(DB00951)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Leflunomide(DB01097)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Lopinavir(DB01601)|Lorcaserin(DB04871)|Losartan(DB00678)|Lumiracoxib(DB01283)|Malathion(DB00772)|Maprotiline(DB00934)|Meclizine(DB00737)|Melatonin(DB01065)|Menadione(DB00170)|Methadone(DB00333)|Methimazole(DB00763)|Methotrimeprazine(DB01403)|Methoxsalen(DB00553)|Methoxyflurane(DB01028)|Mexiletine(DB00379)|Mianserin(DB06148)|Miconazole(DB01110)|Mirtazapine(DB00370)|Moclobemide(DB01171)|Modafinil(DB00745)|Nabumetone(DB00461)|Nafcillin(DB00607)|Naproxen(DB00788)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Niclosamide(DB06803)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nisoldipine(DB00401)|Nitric Oxide(DB00435)|Nitroprusside(DB00325)|Norepinephrine(DB00368)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ofloxacin(DB01165)|Olanzapine(DB00334)|Omeprazole(DB00338)|Ondansetron(DB00904)|Oxaliplatin(DB00526)|Oxtriphylline(DB01303)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Pazopanib(DB06589)|Pefloxacin(DB00487)|Pentamidine(DB00738)|Pentoxifylline(DB00806)|Perphenazine(DB00850)|Phenobarbital(DB01174)|Phentermine(DB00191)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Pimozide(DB01100)|Pipotiazine(DB01621)|Pomalidomide(DB08910)|Praziquantel(DB01058)|Primaquine(DB01087)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Propafenone(DB01182)|Propofol(DB00818)|Propranolol(DB00571)|Pyrazinamide(DB00339)|Quinidine(DB00908)|Quinine(DB00468)|Rabeprazole(DB01129)|Ramelteon(DB00980)|Ranitidine(DB00863)|Rasagiline(DB01367)|Rifabutin(DB00615)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Riluzole(DB00740)|Ritonavir(DB00503)|Rizatriptan(DB00953)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Rosiglitazone(DB00412)|Rotigotine(DB05271)|Roxithromycin(DB00778)|Secobarbital(DB00418)|Selegiline(DB01037)|Sertraline(DB01104)|SIMEPREVIR(DB06290)|Sorafenib(DB00398)|Streptozocin(DB00428)|Sulindac(DB00605)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Tenofovir(DB00300)|Terbinafine(DB00857)|Thalidomide(DB01041)|Theobromine(DB01412)|Theophylline(DB00277)|Thiabendazole(DB00730)|Thioridazine(DB00679)|Thiothixene(DB01623)|Ticlopidine(DB00208)|Tioconazole(DB01007)|Tizanidine(DB00697)|Tocainide(DB01056)|Toremifene(DB00539)|Tranylcypromine(DB00752)|Triamterene(DB00384)|Trifluoperazine(DB00831)|Valproic Acid(DB00313)|Vemurafenib(DB08881)|Verapamil(DB00661)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)|Zolpidem(DB00425)"""	TCCTCTTGCAGAGAGCTGTGG	0.592																																						uc002ayr.1		NA																	0				ovary(3)|breast(1)	4						c.e7-1		cytochrome P450, family 1, subfamily A,	Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Aciclovir(DB00787)|Alosetron(DB00969)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Anagrelide(DB00261)|Azelastine(DB00972)|Bortezomib(DB00188)|Caffeine(DB00201)|Carmustine(DB00262)|Chlordiazepoxide(DB00475)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Ciprofloxacin(DB00537)|Clomipramine(DB01242)|Clotrimazole(DB00257)|Clozapine(DB00363)|Conjugated Estrogens(DB00286)|Cyclobenzaprine(DB00924)|Dacarbazine(DB00851)|Desloratadine(DB00967)|Diazepam(DB00829)|Dibucaine(DB00527)|Diclofenac(DB00586)|Duloxetine(DB00476)|Enoxacin(DB00467)|Esomeprazole(DB00736)|Estradiol(DB00783)|Estrone(DB00655)|Fluorouracil(DB00544)|Flutamide(DB00499)|Fluvoxamine(DB00176)|Frovatriptan(DB00998)|Grepafloxacin(DB00365)|Haloperidol(DB00502)|Hesperetin(DB01094)|Imipramine(DB00458)|Ketoconazole(DB01026)|Leflunomide(DB01097)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Melatonin(DB01065)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mirtazapine(DB00370)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ofloxacin(DB01165)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Pefloxacin(DB00487)|Pimozide(DB01100)|Propafenone(DB01182)|Propranolol(DB00571)|Quinidine(DB00908)|Ramelteon(DB00980)|Ranitidine(DB00863)|Rasagiline(DB01367)|Rifampin(DB01045)|Riluzole(DB00740)|Rofecoxib(DB00533)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Tacrine(DB00382)|Telithromycin(DB00976)|Terfenadine(DB00342)|Theophylline(DB00277)|Thiabendazole(DB00730)|Tizanidine(DB00697)|Tolbutamide(DB01124)|Verapamil(DB00661)|Warfarin(DB00682)|Zileuton(DB00744)|Zolmitriptan(DB00315)						70.0	71.0	71.0					15																	75047131		2197	4296	6493	SO:0001630	splice_region_variant	1544				alkaloid metabolic process|exogenous drug catabolic process|methylation|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative deethylation|oxidative demethylation|steroid catabolic process|toxin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|demethylase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding	g.chr15:75047131G>C	AF182274	CCDS32293.1	15q24.1	2013-11-11	2003-01-14		ENSG00000140505	ENSG00000140505	1.14.14.1	"""Cytochrome P450s"""	2596	protein-coding gene	gene with protein product		124060	"""cytochrome P450, subfamily I (aromatic compound-inducible), polypeptide 2"""			15128046	Standard	NM_000761		Approved	P3-450, CP12	uc002ayr.1	P05177	OTTHUMG00000172901	ENST00000343932.4:c.1254-1G>C	15.37:g.75047131G>C							p.P418_splice	NM_000761	NP_000752	P05177	CP1A2_HUMAN			7	1318	+								Q16754|Q6NWU5|Q9BXX7|Q9UK49	Splice_Site	SNP	ENST00000343932.4	37	c.1254_splice	CCDS32293.1	.	.	.	.	.	.	.	.	.	.	G	16.16	3.043458	0.55003	.	.	ENSG00000140505	ENST00000343932	.	.	.	4.54	4.54	0.55810	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.4658	0.87632	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CYP1A2	72834184	1.000000	0.71417	0.802000	0.32245	0.023000	0.10783	9.075000	0.94004	2.366000	0.80165	0.462000	0.41574	.		0.592	CYP1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421263.2	NM_000761	Intron	18	112	0	0	0	0	18	112				
LINGO1	84894	broad.mit.edu	37	15	77907918	77907918	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr15:77907918C>A	ENST00000355300.6	-	2	505	c.331G>T	c.(331-333)Gag>Tag	p.E111*	LINGO1_ENST00000561030.1_Nonsense_Mutation_p.E105*	NM_032808.5	NP_116197.4	Q96FE5	LIGO1_HUMAN	leucine rich repeat and Ig domain containing 1	111					central nervous system neuron development (GO:0021954)|negative regulation of axonogenesis (GO:0050771)|negative regulation of oligodendrocyte differentiation (GO:0048715)|neuron projection development (GO:0031175)|neurotrophin TRK receptor signaling pathway (GO:0048011)|protein kinase B signaling (GO:0043491)|regulation of axonogenesis (GO:0050770)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31						GCGCCGGGCTCCACGGCGCTC	0.617																																						uc002bct.1		NA																	0				ovary(1)|lung(1)	2						c.(331-333)GAG>TAG		leucine-rich repeat neuronal 6A							39.0	44.0	42.0					15																	77907918		2053	4188	6241	SO:0001587	stop_gained	84894				negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane		g.chr15:77907918C>A	AK027500	CCDS45313.1, CCDS73766.1	15q24	2013-01-11	2007-02-01	2007-02-01		ENSG00000169783		"""Immunoglobulin superfamily / I-set domain containing"""	21205	protein-coding gene	gene with protein product		609791	"""leucine rich repeat neuronal 6A"""	LRRN6A		14686891	Standard	XM_006720723		Approved	FLJ14594, LERN1	uc002bct.1	Q96FE5		ENST00000355300.6:c.331G>T	15.37:g.77907918C>A	ENSP00000347451:p.Glu111*					LINGO1_uc002bcu.1_Nonsense_Mutation_p.E105*	p.E111*	NM_032808	NP_116197	Q96FE5	LIGO1_HUMAN			2	383	-			111			Extracellular (Potential).|LRR 2.		D3DW80|Q6NUK3|Q6UXM3|Q6VVG0|Q6VVG1|Q6VVG2|Q8N3K5|Q96K52	Nonsense_Mutation	SNP	ENST00000355300.6	37	c.331G>T	CCDS45313.1	.	.	.	.	.	.	.	.	.	.	C	28.9	4.961735	0.92791	.	.	ENSG00000169783	ENST00000355300	.	.	.	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	19.6704	0.95910	0.0:1.0:0.0:0.0	.	.	.	.	X	111	.	ENSP00000347451:E111X	E	-	1	0	LINGO1	75694973	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.815000	0.86186	2.659000	0.90383	0.561000	0.74099	GAG		0.617	LINGO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419546.1	NM_032808		6	10	1	0	5.94e-07	6.19e-07	6	10				
FAM154B	283726	broad.mit.edu	37	15	82575272	82575272	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr15:82575272G>C	ENST00000339465.5	+	3	1135	c.1066G>C	c.(1066-1068)Gag>Cag	p.E356Q	FAM154B_ENST00000565501.1_3'UTR|FAM154B_ENST00000427381.2_Missense_Mutation_p.E341Q	NM_001008226.1	NP_001008227.1	Q658L1	F154B_HUMAN	family with sequence similarity 154, member B	356										autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(2)	19						GTACTCTGTAGAGTACACACC	0.398																																						uc002bgv.2		NA																	0				skin(2)	2						c.(1066-1068)GAG>CAG		hypothetical protein LOC283726							65.0	66.0	66.0					15																	82575272		2203	4300	6503	SO:0001583	missense	283726							g.chr15:82575272G>C	AL833762	CCDS32310.1	15q25.2	2008-02-21				ENSG00000188659			33727	protein-coding gene	gene with protein product							Standard	XM_005254317		Approved	DKFZp666G057	uc002bgv.3	Q658L1		ENST00000339465.5:c.1066G>C	15.37:g.82575272G>C	ENSP00000340445:p.Glu356Gln					FAM154B_uc010unr.1_Missense_Mutation_p.E341Q|FAM154B_uc010uns.1_RNA	p.E356Q	NM_001008226	NP_001008227	Q658L1	F154B_HUMAN			3	1135	+			356					B4E2M2	Missense_Mutation	SNP	ENST00000339465.5	37	c.1066G>C	CCDS32310.1	.	.	.	.	.	.	.	.	.	.	G	7.405	0.633519	0.14322	.	.	ENSG00000188659	ENST00000339465;ENST00000427381	T;T	0.23754	1.89;1.89	3.88	0.33	0.15929	.	0.489249	0.18014	N	0.154451	T	0.20780	0.0500	L	0.40543	1.245	0.09310	N	0.999997	B;B	0.26635	0.042;0.155	B;B	0.32583	0.078;0.148	T	0.27739	-1.0065	10	0.23302	T	0.38	-11.0591	11.083	0.48070	0.0787:0.2464:0.6749:0.0	.	341;356	B4E2M2;Q658L1	.;F154B_HUMAN	Q	356;341	ENSP00000340445:E356Q;ENSP00000403743:E341Q	ENSP00000340445:E356Q	E	+	1	0	FAM154B	80362327	1.000000	0.71417	0.001000	0.08648	0.002000	0.02628	3.986000	0.56937	-0.056000	0.13221	-1.509000	0.00949	GAG		0.398	FAM154B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419644.1	NM_001008226		11	59	0	0	0	0	11	59				
BNC1	646	broad.mit.edu	37	15	83932315	83932315	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr15:83932315G>A	ENST00000345382.2	-	4	1773	c.1688C>T	c.(1687-1689)tCa>tTa	p.S563L	BNC1_ENST00000569704.1_Missense_Mutation_p.S556L|RP11-382A20.4_ENST00000565495.1_RNA	NM_001717.3	NP_001708.3	Q01954	BNC1_HUMAN	basonuclin 1	563					chromosome organization (GO:0051276)|epidermis development (GO:0008544)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|regulation of transcription from RNA polymerase I promoter (GO:0006356)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	56						GTCTTCATCTGAGCTGAGGTT	0.478																																						uc002bjt.1		NA																	0				ovary(3)	3						c.(1687-1689)TCA>TTA		basonuclin 1							215.0	201.0	206.0					15																	83932315		2203	4300	6503	SO:0001583	missense	646				epidermis development|positive regulation of cell proliferation	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr15:83932315G>A	L03427	CCDS10324.1, CCDS73771.1	15q25.1	2013-05-20	2004-04-30	2004-05-04	ENSG00000169594	ENSG00000169594		"""Zinc fingers, C2H2-type"""	1081	protein-coding gene	gene with protein product		601930	"""basonuclin"""	BNC		1332044	Standard	NM_001717		Approved	HsT19447	uc002bjt.1	Q01954	OTTHUMG00000147362	ENST00000345382.2:c.1688C>T	15.37:g.83932315G>A	ENSP00000307041:p.Ser563Leu					BNC1_uc010uos.1_Missense_Mutation_p.S551L	p.S563L	NM_001717	NP_001708	Q01954	BNC1_HUMAN			4	1776	-			563					Q15840	Missense_Mutation	SNP	ENST00000345382.2	37	c.1688C>T	CCDS10324.1	.	.	.	.	.	.	.	.	.	.	G	16.23	3.065558	0.55539	.	.	ENSG00000169594	ENST00000345382;ENST00000541809	T	0.48201	0.82	5.14	5.14	0.70334	.	0.137838	0.48767	D	0.000164	T	0.47637	0.1456	M	0.67953	2.075	0.49051	D	0.999741	B;B	0.19200	0.028;0.034	B;B	0.19946	0.027;0.01	T	0.46428	-0.9192	10	0.52906	T	0.07	-12.1122	13.1184	0.59313	0.0763:0.0:0.9237:0.0	.	556;563	F5GY04;Q01954	.;BNC1_HUMAN	L	563;556	ENSP00000307041:S563L	ENSP00000307041:S563L	S	-	2	0	BNC1	81723319	1.000000	0.71417	0.990000	0.47175	0.912000	0.54170	6.131000	0.71670	2.666000	0.90696	0.655000	0.94253	TCA		0.478	BNC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304006.1	NM_001717		25	174	0	0	0	0	25	174				
ISG20	3669	broad.mit.edu	37	15	89195491	89195491	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr15:89195491C>T	ENST00000306072.5	+	3	737	c.379C>T	c.(379-381)Cgt>Tgt	p.R127C	ISG20_ENST00000560746.1_3'UTR|ISG20_ENST00000560741.1_Missense_Mutation_p.R127C	NM_002201.4	NP_002192.2	Q96AZ6	ISG20_HUMAN	interferon stimulated exonuclease gene 20kDa	127					cell proliferation (GO:0008283)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|DNA catabolic process, exonucleolytic (GO:0000738)|negative regulation of viral genome replication (GO:0045071)|response to virus (GO:0009615)|RNA catabolic process (GO:0006401)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|rRNA processing (GO:0006364)|type I interferon signaling pathway (GO:0060337)	Cajal body (GO:0015030)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	3'-5'-exoribonuclease activity (GO:0000175)|exonuclease activity (GO:0004527)|exoribonuclease II activity (GO:0008859)|metal ion binding (GO:0046872)|single-stranded DNA 3'-5' exodeoxyribonuclease activity (GO:0008310)|U1 snRNA binding (GO:0030619)|U2 snRNA binding (GO:0030620)|U3 snoRNA binding (GO:0034511)			large_intestine(1)|lung(3)|prostate(1)	5	Lung NSC(78;0.0554)|all_lung(78;0.103)		BRCA - Breast invasive adenocarcinoma(143;0.12)			CCACTGCAGGCGTGTCTCCCT	0.617																																						uc002bmv.1		NA																	0					0						c.(379-381)CGT>TGT		interferon stimulated exonuclease							138.0	117.0	124.0					15																	89195491		2200	4299	6499	SO:0001583	missense	3669				cell proliferation|DNA catabolic process, exonucleolytic|response to virus|RNA catabolic process|type I interferon-mediated signaling pathway	PML body	3'-5'-exoribonuclease activity|exoribonuclease II activity|metal ion binding|RNA binding|single-stranded DNA specific 3'-5' exodeoxyribonuclease activity	g.chr15:89195491C>T	X89773	CCDS10345.1	15q26	2006-02-22	2002-08-29		ENSG00000172183	ENSG00000172183			6130	protein-coding gene	gene with protein product		604533	"""interferon stimulated gene (20kD)"""			9235947, 9605874	Standard	NM_002201		Approved	HEM45, CD25	uc002bmv.1	Q96AZ6	OTTHUMG00000148679	ENST00000306072.5:c.379C>T	15.37:g.89195491C>T	ENSP00000306565:p.Arg127Cys					ISG20_uc002bmu.1_RNA|ISG20_uc002bmw.1_RNA|ISG20_uc010upn.1_RNA	p.R127C	NM_002201	NP_002192	Q96AZ6	ISG20_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.12)		3	672	+	Lung NSC(78;0.0554)|all_lung(78;0.103)		127					O00441|O00586	Missense_Mutation	SNP	ENST00000306072.5	37	c.379C>T	CCDS10345.1	.	.	.	.	.	.	.	.	.	.	C	13.35	2.211083	0.39102	.	.	ENSG00000172183	ENST00000306072;ENST00000546338	T	0.32988	1.43	4.58	1.15	0.20763	Exonuclease (1);Exonuclease, RNase T/DNA polymerase III (1);Ribonuclease H-like (1);	0.238996	0.30999	N	0.008446	T	0.29945	0.0749	M	0.78049	2.395	0.21020	N	0.999808	B	0.20780	0.048	B	0.18561	0.022	T	0.23655	-1.0182	10	0.44086	T	0.13	0.1514	6.8975	0.24265	0.2906:0.5456:0.1638:0.0	.	127	Q96AZ6	ISG20_HUMAN	C	127;135	ENSP00000306565:R127C	ENSP00000306565:R127C	R	+	1	0	ISG20	86996495	0.006000	0.16342	0.013000	0.15412	0.482000	0.33219	0.712000	0.25779	0.890000	0.36211	0.491000	0.48974	CGT		0.617	ISG20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309069.2	NM_002201		9	76	0	0	0	0	9	76				
WDR90	197335	broad.mit.edu	37	16	706411	706411	+	Nonsense_Mutation	SNP	C	C	G			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr16:706411C>G	ENST00000293879.4	+	18	2076	c.2076C>G	c.(2074-2076)taC>taG	p.Y692*	LA16c-349E10.1_ENST00000573609.1_RNA|WDR90_ENST00000549091.1_Nonsense_Mutation_p.Y692*			Q96KV7	WDR90_HUMAN	WD repeat domain 90	692										endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				CCCGGGTGTACCACATGCTGG	0.697																																						uc002cii.1		NA																	0				ovary(1)	1						c.(2074-2076)TAC>TAG		WD repeat domain 90							12.0	16.0	15.0					16																	706411		2118	4224	6342	SO:0001587	stop_gained	197335							g.chr16:706411C>G	AB067511	CCDS42092.1	16p13.3	2013-01-09			ENSG00000161996	ENSG00000161996		"""WD repeat domain containing"""	26960	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 17"", ""chromosome 16 open reading frame 15"", ""chromosome 16 open reading frame 16"", ""chromosome 16 open reading frame 19"", ""chromosome 16 open reading frame 18"""	C16orf17, C16orf15, C16orf16, C16orf19, C16orf18		11572484, 11157797	Standard	XM_005255160		Approved	FLJ36483, KIAA1924	uc002cii.1	Q96KV7	OTTHUMG00000048040	ENST00000293879.4:c.2076C>G	16.37:g.706411C>G	ENSP00000293879:p.Tyr692*					WDR90_uc002cig.1_3'UTR|WDR90_uc002cih.1_3'UTR|WDR90_uc002cij.1_Intron|WDR90_uc002cik.1_Nonsense_Mutation_p.Y219*|WDR90_uc002cil.1_5'Flank|WDR90_uc002cim.1_5'Flank	p.Y692*	NM_145294	NP_660337	Q96KV7	WDR90_HUMAN			18	2130	+		Hepatocellular(780;0.0218)	692			WD 5.		Q0VA87|Q0VA88|Q6P048|Q6ZMS1|Q6ZTH1|Q8N202|Q8N221|Q8NBB8|Q96PW4|Q96S18	Nonsense_Mutation	SNP	ENST00000293879.4	37	c.2076C>G	CCDS42092.1	.	.	.	.	.	.	.	.	.	.	C	35	5.500444	0.96355	.	.	ENSG00000161996	ENST00000549091;ENST00000293879	.	.	.	4.74	0.395	0.16304	.	0.000000	0.64402	U	0.000004	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.0006	0.41927	0.0:0.6949:0.0:0.3051	.	.	.	.	X	692	.	ENSP00000293879:Y692X	Y	+	3	2	WDR90	646412	0.148000	0.22702	0.108000	0.21378	0.008000	0.06430	0.675000	0.25232	0.161000	0.19458	0.655000	0.94253	TAC		0.697	WDR90-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000404335.1	NM_145294		5	19	0	0	0	0	5	19				
RPUSD1	113000	broad.mit.edu	37	16	836894	836894	+	Silent	SNP	G	G	A	rs376392312		TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr16:836894G>A	ENST00000561734.1	-	4	687	c.444C>T	c.(442-444)ctC>ctT	p.L148L	RPUSD1_ENST00000007264.2_Silent_p.L148L|CHTF18_ENST00000455171.2_5'Flank|CHTF18_ENST00000262315.9_5'Flank|CHTF18_ENST00000317063.6_5'Flank|RPUSD1_ENST00000567114.1_Silent_p.L19L|RPUSD1_ENST00000565809.1_Missense_Mutation_p.S114L			Q9UJJ7	RUSD1_HUMAN	RNA pseudouridylate synthase domain containing 1	148					pseudouridine synthesis (GO:0001522)		pseudouridine synthase activity (GO:0009982)|RNA binding (GO:0003723)			endometrium(3)|lung(2)|skin(2)	7		Hepatocellular(780;0.00335)				CCAGAACCACGAGATCTGTGA	0.632																																						uc002cka.2		NA																	0					0						c.(442-444)CTC>CTT		RNA pseudouridylate synthase domain containing		G		0,4400		0,0,2200	167.0	148.0	155.0		444	-3.5	0.7	16		155	1,8599	2.2+/-6.3	0,1,4299	no	coding-synonymous	RPUSD1	NM_058192.2		0,1,6499	AA,AG,GG		0.0116,0.0,0.0077		148/313	836894	1,12999	2200	4300	6500	SO:0001819	synonymous_variant	113000				pseudouridine synthesis		pseudouridine synthase activity|RNA binding	g.chr16:836894G>A	AE006465	CCDS10426.1	16p13.3	2013-02-11	2005-01-31	2005-01-31	ENSG00000007376	ENSG00000007376		"""RNA pseudouridylate synthase domain containing"""	14173	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 40"""	C16orf40			Standard	NM_058192		Approved	RLUCL, MGC19600	uc002ckb.3	Q9UJJ7	OTTHUMG00000047840	ENST00000561734.1:c.444C>T	16.37:g.836894G>A						RPUSD1_uc002ckb.2_Silent_p.L148L|RPUSD1_uc002ckc.2_Silent_p.L19L|RPUSD1_uc002ckd.2_Missense_Mutation_p.S114L|CHTF18_uc010uus.1_5'Flank|CHTF18_uc010bre.1_5'Flank|CHTF18_uc002cke.3_5'Flank|CHTF18_uc002ckf.3_5'Flank|CHTF18_uc010brf.2_5'Flank|CHTF18_uc002ckg.3_5'Flank	p.L148L	NM_058192	NP_478072	Q9UJJ7	RUSD1_HUMAN			4	678	-		Hepatocellular(780;0.00335)	148					D3DU66	Silent	SNP	ENST00000561734.1	37	c.444C>T	CCDS10426.1																																																																																				0.632	RPUSD1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420620.1	NM_058192		31	95	0	0	0	0	31	95				
TBC1D24	57465	broad.mit.edu	37	16	2547031	2547031	+	Silent	SNP	C	C	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr16:2547031C>T	ENST00000293970.5	+	2	1015	c.882C>T	c.(880-882)ctC>ctT	p.L294L	TBC1D24_ENST00000567020.1_Silent_p.L294L|TBC1D24_ENST00000434757.2_Silent_p.L294L|RP11-20I23.1_ENST00000564543.1_Silent_p.L294L	NM_001199107.1	NP_001186036.1	Q9ULP9	TBC24_HUMAN	TBC1 domain family, member 24	294					neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|neuromuscular junction (GO:0031594)|terminal bouton (GO:0043195)	Rab GTPase activator activity (GO:0005097)			endometrium(2)|kidney(4)|large_intestine(3)|lung(4)	13						CCATCCGCCTCTTCTCCCGCA	0.597																																						uc002cql.2		NA																	0					0						c.(880-882)CTC>CTT		TBC1 domain family, member 24							45.0	52.0	50.0					16																	2547031		2146	4258	6404	SO:0001819	synonymous_variant	57465				neuron projection development	cytoplasm	protein binding|Rab GTPase activator activity	g.chr16:2547031C>T	AB032997	CCDS42107.1, CCDS55980.1	16p13.3	2014-05-07				ENSG00000162065			29203	protein-coding gene	gene with protein product	"""TBC/LysM-associated domain containing 6"""	613577	"""deafness, autosomal recessive 86"""	DFNB86		10574461, 24387994, 24729539	Standard	NM_001199107		Approved	KIAA1171, TLDC6, DFNA65	uc002cql.3	Q9ULP9		ENST00000293970.5:c.882C>T	16.37:g.2547031C>T						TBC1D24_uc002cqk.2_Silent_p.L294L|TBC1D24_uc002cqm.2_Silent_p.L294L|TBC1D24_uc010bsm.2_5'Flank	p.L294L	NM_020705	NP_065756	Q9ULP9	TBC24_HUMAN			2	1022	+			294					A0JNW3|B9A6M6|Q2KJ08	Silent	SNP	ENST00000293970.5	37	c.882C>T	CCDS55980.1																																																																																				0.597	TBC1D24-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000435637.1	NM_020705		21	51	0	0	0	0	21	51				
ACSM2A	123876	broad.mit.edu	37	16	20487070	20487070	+	Missense_Mutation	SNP	G	G	A	rs188648395		TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr16:20487070G>A	ENST00000573854.1	+	8	1187	c.1073G>A	c.(1072-1074)cGa>cAa	p.R358Q	ACSM2A_ENST00000575690.1_Missense_Mutation_p.R358Q|ACSM2A_ENST00000417235.2_Missense_Mutation_p.R279Q|ACSM2A_ENST00000536134.1_Missense_Mutation_p.R130Q|ACSM2A_ENST00000396104.2_Missense_Mutation_p.R358Q|ACSM2A_ENST00000219054.6_Missense_Mutation_p.R358Q|ACSM2A_ENST00000575558.1_3'UTR	NM_001010845.2	NP_001010845	Q08AH3	ACS2A_HUMAN	acyl-CoA synthetase medium-chain family member 2A	358					fatty acid metabolic process (GO:0006631)|glucose homeostasis (GO:0042593)|medium-chain fatty-acyl-CoA metabolic process (GO:0036112)|triglyceride homeostasis (GO:0070328)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						CTGGACATCCGAGAATCCTAT	0.493																																						uc010bwe.2		NA																	0				skin(2)|breast(1)	3						c.(1072-1074)CGA>CAA		acyl-CoA synthetase medium-chain family member							152.0	157.0	156.0					16																	20487070		2203	4300	6503	SO:0001583	missense	123876				fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding	g.chr16:20487070G>A	AK091878, AK096039	CCDS32401.1	16p12.3	2014-08-08	2007-06-20	2007-06-20	ENSG00000183747	ENSG00000183747		"""Acyl-CoA synthetase family"""	32017	protein-coding gene	gene with protein product		614358	"""acyl-CoA synthetase medium-chain family member 2"""	ACSM2			Standard	NM_001010845		Approved	A-923A4.1, MGC150530	uc010bwe.3	Q08AH3	OTTHUMG00000177401	ENST00000573854.1:c.1073G>A	16.37:g.20487070G>A	ENSP00000459451:p.Arg358Gln					ACSM2A_uc010vax.1_Missense_Mutation_p.R279Q|ACSM2A_uc002dhf.3_Missense_Mutation_p.R358Q|ACSM2A_uc002dhg.3_Missense_Mutation_p.R358Q|ACSM2A_uc010vay.1_Missense_Mutation_p.R279Q|ACSM2A_uc002dhh.3_5'UTR	p.R358Q	NM_001010845	NP_001010845	Q08AH3	ACS2A_HUMAN			9	1312	+			358					B3KTT9|O75202	Missense_Mutation	SNP	ENST00000573854.1	37	c.1073G>A	CCDS32401.1	.	.	.	.	.	.	.	.	.	.	G	11.29	1.594516	0.28445	.	.	ENSG00000183747	ENST00000417235;ENST00000219054;ENST00000536134;ENST00000396104	T;T;T;T	0.39997	1.05;1.05;1.05;1.05	3.76	-0.194	0.13240	AMP-dependent synthetase/ligase (1);	0.479232	0.15600	N	0.253977	T	0.29223	0.0727	M	0.71871	2.18	0.48185	D	0.999605	P;P	0.47762	0.9;0.9	B;B	0.35114	0.196;0.196	T	0.18840	-1.0324	10	0.30854	T	0.27	-4.4532	2.3188	0.04205	0.4919:0.0:0.2738:0.2343	.	279;358	B7Z8R0;Q08AH3	.;ACS2A_HUMAN	Q	279;358;130;358	ENSP00000392169:R279Q;ENSP00000219054:R358Q;ENSP00000445082:R130Q;ENSP00000379411:R358Q	ENSP00000219054:R358Q	R	+	2	0	ACSM2A	20394571	0.000000	0.05858	0.958000	0.39756	0.285000	0.27093	0.445000	0.21677	0.189000	0.20188	0.298000	0.19748	CGA		0.493	ACSM2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436764.1	NM_001010845		27	245	0	0	0	0	27	245				
USP31	57478	broad.mit.edu	37	16	23113736	23113736	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr16:23113736C>G	ENST00000219689.7	-	6	1137	c.1138G>C	c.(1138-1140)Gat>Cat	p.D380H		NM_020718.3	NP_065769.3	Q86UV5	UBP48_HUMAN	ubiquitin specific peptidase 31	0	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)		TCGTCTGTATCACAAAAGGAA	0.383																																						uc002dll.2		NA																	0				ovary(3)|lung(3)|breast(2)|pancreas(1)|skin(1)	10						c.(1138-1140)GAT>CAT		ubiquitin specific peptidase 31							96.0	90.0	92.0					16																	23113736		2197	4300	6497	SO:0001583	missense	57478				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr16:23113736C>G	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.1138G>C	16.37:g.23113736C>G	ENSP00000219689:p.Asp380His						p.D380H	NM_020718	NP_065769	Q70CQ4	UBP31_HUMAN		GBM - Glioblastoma multiforme(48;0.0187)	6	1138	-			380					B7ZKS7|Q2M3I4|Q5SZI4|Q5T3T5|Q6NX53|Q8N3F6|Q96F64|Q96IQ3|Q9H5N3|Q9H5T7|Q9NUJ6|Q9NXR0	Missense_Mutation	SNP	ENST00000219689.7	37	c.1138G>C	CCDS10607.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.676663	0.88445	.	.	ENSG00000103404	ENST00000219689	T	0.11169	2.8	5.35	5.35	0.76521	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	T	0.35595	0.0937	M	0.76002	2.32	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.06917	-1.0800	10	0.66056	D	0.02	-13.5207	18.0693	0.89400	0.0:1.0:0.0:0.0	.	380	Q70CQ4	UBP31_HUMAN	H	380	ENSP00000219689:D380H	ENSP00000219689:D380H	D	-	1	0	USP31	23021237	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.458000	0.80787	2.500000	0.84329	0.650000	0.86243	GAT		0.383	USP31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211607.1	NM_020718		29	70	0	0	0	0	29	70				
KCTD13	253980	broad.mit.edu	37	16	29934634	29934634	+	Silent	SNP	G	G	C			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr16:29934634G>C	ENST00000568000.1	-	2	1292	c.291C>G	c.(289-291)ctC>ctG	p.L97L	KCTD13_ENST00000561540.1_Silent_p.L97L|KCTD13_ENST00000568721.1_5'UTR|CTD-2574D22.4_ENST00000567795.1_RNA	NM_178863.3	NP_849194.1	Q8WZ19	BACD1_HUMAN	potassium channel tetramerization domain containing 13	97	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				cell migration (GO:0016477)|DNA replication (GO:0006260)|negative regulation of Rho protein signal transduction (GO:0035024)|positive regulation of DNA replication (GO:0045740)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein homooligomerization (GO:0051260)|protein ubiquitination (GO:0016567)|stress fiber assembly (GO:0043149)	Cul3-RING ubiquitin ligase complex (GO:0031463)|nucleus (GO:0005634)	GTP-Rho binding (GO:0017049)			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(2)	7						GCAGGTAATTGAGGATTGTAC	0.612																																						uc002duv.2		NA																	0					0						c.(289-291)CTC>CTG		potassium channel tetramerisation domain							38.0	34.0	35.0					16																	29934634		2197	4300	6497	SO:0001819	synonymous_variant	253980				cell migration|DNA replication|negative regulation of Rho protein signal transduction|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|stress fiber assembly	Cul3-RING ubiquitin ligase complex|nucleus|voltage-gated potassium channel complex	GTP-Rho binding|voltage-gated potassium channel activity	g.chr16:29934634G>C	AF289573	CCDS10661.1	16p11.2	2013-06-20	2013-06-20		ENSG00000174943	ENSG00000174943			22234	protein-coding gene	gene with protein product	"""polymerase delta-interacting protein 1"", ""TNFAIP1-like"""	608947	"""potassium channel tetramerisation domain containing 13"""			11593007	Standard	NM_178863		Approved	PDIP1, FKSG86, POLDIP1	uc002duv.4	Q8WZ19	OTTHUMG00000132120	ENST00000568000.1:c.291C>G	16.37:g.29934634G>C						uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|KCTD13_uc010vee.1_RNA	p.L97L	NM_178863	NP_849194	Q8WZ19	BACD1_HUMAN			2	482	-			97			BTB.		A8K0R5|Q96P93|Q96SA1	Silent	SNP	ENST00000568000.1	37	c.291C>G	CCDS10661.1																																																																																				0.612	KCTD13-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255162.2	NM_178863		8	45	0	0	0	0	8	45				
ZNF764	92595	broad.mit.edu	37	16	30569449	30569449	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr16:30569449C>G	ENST00000252797.2	-	1	135	c.55G>C	c.(55-57)Gag>Cag	p.E19Q	AC002310.13_ENST00000568114.1_Missense_Mutation_p.E19Q|ZNF764_ENST00000395091.2_Missense_Mutation_p.E19Q	NM_001172679.1|NM_033410.3	NP_001166150.1|NP_219363.2	Q96H86	ZN764_HUMAN	zinc finger protein 764	19					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7						TCCCTCCACTCGGGTCCGGCC	0.726																																						uc002dyq.2		NA																	0				ovary(1)	1						c.(55-57)GAG>CAG		zinc finger protein 764							10.0	13.0	12.0					16																	30569449		2187	4278	6465	SO:0001583	missense	92595				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:30569449C>G	BC008821	CCDS10683.1, CCDS54001.1	16p11.2	2013-01-08			ENSG00000169951	ENSG00000169951		"""Zinc fingers, C2H2-type"", ""-"""	28200	protein-coding gene	gene with protein product						12477932	Standard	NM_033410		Approved	MGC13138	uc002dyq.3	Q96H86	OTTHUMG00000132406	ENST00000252797.2:c.55G>C	16.37:g.30569449C>G	ENSP00000252797:p.Glu19Gln					ZNF764_uc002dyr.1_Missense_Mutation_p.E19Q	p.E19Q	NM_033410	NP_219363	Q96H86	ZN764_HUMAN			1	136	-			19					A8MZF4|B3KSN2|H9KV99|Q9BWS1	Missense_Mutation	SNP	ENST00000252797.2	37	c.55G>C	CCDS10683.1	.	.	.	.	.	.	.	.	.	.	C	8.474	0.858193	0.17178	.	.	ENSG00000169951	ENST00000252797;ENST00000395091	T;T	0.06142	3.36;3.34	3.19	-1.26	0.09376	Krueppel-associated box (1);	0.708276	0.11614	N	0.546414	T	0.03783	0.0107	L	0.29908	0.895	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.06405	0.002;0.002	T	0.47560	-0.9108	10	0.13853	T	0.58	-1.8292	4.6642	0.12657	0.0:0.2989:0.447:0.2541	.	19;19	B3KSN2;Q96H86	.;ZN764_HUMAN	Q	19	ENSP00000252797:E19Q;ENSP00000378526:E19Q	ENSP00000252797:E19Q	E	-	1	0	ZNF764	30476950	0.000000	0.05858	0.000000	0.03702	0.217000	0.24651	-0.607000	0.05648	-0.201000	0.10284	0.462000	0.41574	GAG		0.726	ZNF764-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255541.1	NM_033410		11	11	0	0	0	0	11	11				
ZNF629	23361	broad.mit.edu	37	16	30793399	30793399	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr16:30793399C>A	ENST00000262525.4	-	3	2457	c.2250G>T	c.(2248-2250)aaG>aaT	p.K750N	RP11-2C24.6_ENST00000575562.1_RNA	NM_001080417.1	NP_001073886.1	Q9UEG4	ZN629_HUMAN	zinc finger protein 629	750					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(3)|urinary_tract(1)	22			Colorectal(24;0.198)			CGGAAGAGCTCTTCCCCAGCT	0.617																																						uc002dzs.1		NA																	0					0						c.(2248-2250)AAG>AAT		zinc finger protein 629							44.0	50.0	48.0					16																	30793399		1892	4103	5995	SO:0001583	missense	23361				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:30793399C>A	AB002324	CCDS45463.1	16p11.2	2013-01-08				ENSG00000102870		"""Zinc fingers, C2H2-type"""	29008	protein-coding gene	gene with protein product			"""zinc finger protein 65"""	ZNF65		9205841	Standard	NM_001080417		Approved	KIAA0326	uc002dzs.1	Q9UEG4		ENST00000262525.4:c.2250G>T	16.37:g.30793399C>A	ENSP00000262525:p.Lys750Asn						p.K750N	NM_001080417	NP_001073886	Q9UEG4	ZN629_HUMAN	Colorectal(24;0.198)		3	2458	-			750					Q15938	Missense_Mutation	SNP	ENST00000262525.4	37	c.2250G>T	CCDS45463.1	.	.	.	.	.	.	.	.	.	.	C	12.82	2.052975	0.36181	.	.	ENSG00000102870	ENST00000262525	T	0.10005	2.92	4.92	3.97	0.46021	.	0.000000	0.44285	D	0.000470	T	0.13030	0.0316	N	0.08118	0	0.35164	D	0.770907	D	0.69078	0.997	P	0.60789	0.879	T	0.35748	-0.9776	10	0.87932	D	0	-36.8042	12.9832	0.58577	0.0:0.9185:0.0:0.0815	.	750	Q9UEG4	ZN629_HUMAN	N	750	ENSP00000262525:K750N	ENSP00000262525:K750N	K	-	3	2	ZNF629	30700900	0.996000	0.38824	0.999000	0.59377	0.757000	0.42996	1.033000	0.30191	1.406000	0.46857	-0.258000	0.10820	AAG		0.617	ZNF629-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434291.1	NM_015309		36	100	1	0	6.06e-23	6.52e-23	36	100				
STX4	6810	broad.mit.edu	37	16	31049870	31049870	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr16:31049870G>A	ENST00000313843.3	+	8	919	c.604G>A	c.(604-606)Gag>Aag	p.E202K	STX4_ENST00000394998.1_Missense_Mutation_p.E200K|STX4_ENST00000493902.1_3'UTR	NM_004604.3	NP_004595.2	Q12846	STX4_HUMAN	syntaxin 4	202	Interaction with CENPF. {ECO:0000250}.|t-SNARE coiled-coil homology. {ECO:0000255|PROSITE-ProRule:PRU00202}.				blood coagulation (GO:0007596)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|neurotransmitter transport (GO:0006836)|platelet activation (GO:0030168)|post-Golgi vesicle-mediated transport (GO:0006892)|SNARE complex assembly (GO:0035493)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lateral loop (GO:0043219)|membrane (GO:0016020)|myelin sheath adaxonal region (GO:0035749)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|SNARE complex (GO:0031201)|specific granule (GO:0042581)|trans-Golgi network (GO:0005802)|vacuole (GO:0005773)				NS(2)|breast(1)|large_intestine(3)|lung(3)	9						GGCCTTAAATGAGATCTCGGC	0.552																																						uc002eal.2		NA																	0					0						c.(604-606)GAG>AAG		syntaxin 4							86.0	78.0	81.0					16																	31049870		2197	4300	6497	SO:0001583	missense	6810				intracellular protein transport|platelet activation|post-Golgi vesicle-mediated transport	basolateral plasma membrane|cell surface|cytosol|integral to membrane|plasma membrane enriched fraction|specific granule|vacuole	SNAP receptor activity	g.chr16:31049870G>A	AF026007	CCDS10700.1, CCDS61916.1	16p11.2	2008-02-05	2006-04-25	2006-04-25	ENSG00000103496	ENSG00000103496			11439	protein-coding gene	gene with protein product		186591	"""syntaxin 4A (placental)"""	STX4A		8206394, 16339081	Standard	NM_001272095		Approved	p35-2	uc002eak.4	Q12846	OTTHUMG00000132404	ENST00000313843.3:c.604G>A	16.37:g.31049870G>A	ENSP00000317714:p.Glu202Lys					STX4_uc002eak.2_Missense_Mutation_p.E200K|STX4_uc002eam.2_Missense_Mutation_p.E124K	p.E202K	NM_004604	NP_004595	Q12846	STX4_HUMAN			8	828	+			202			Cytoplasmic (Potential).|Interaction with CENPF (By similarity).|t-SNARE coiled-coil homology.		A8MXY0|Q15525|Q6FHE8	Missense_Mutation	SNP	ENST00000313843.3	37	c.604G>A	CCDS10700.1	.	.	.	.	.	.	.	.	.	.	G	36	5.935877	0.97122	.	.	ENSG00000103496	ENST00000394998;ENST00000313843	T;T	0.24538	1.85;1.85	5.93	5.93	0.95920	t-SNARE (1);Target SNARE coiled-coil domain (2);	0.000000	0.85682	D	0.000000	T	0.60945	0.2308	M	0.91196	3.185	0.58432	D	0.999998	D;D	0.65815	0.995;0.991	D;D	0.65773	0.938;0.937	T	0.68315	-0.5441	10	0.87932	D	0	.	19.1797	0.93617	0.0:0.0:1.0:0.0	.	202;200	Q12846;A8MXY0	STX4_HUMAN;.	K	200;202	ENSP00000378447:E200K;ENSP00000317714:E202K	ENSP00000317714:E202K	E	+	1	0	STX4	30957371	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.011000	0.93618	2.833000	0.97629	0.650000	0.86243	GAG		0.552	STX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255538.3	NM_004604		20	55	0	0	0	0	20	55				
PYCARD	29108	broad.mit.edu	37	16	31213912	31213912	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr16:31213912C>G	ENST00000247470.9	-	1	401	c.100G>C	c.(100-102)Gag>Cag	p.E34Q	C16orf98_ENST00000561916.2_Silent_p.L46L|PYCARD_ENST00000350605.4_Missense_Mutation_p.E34Q	NM_013258.4	NP_037390.2	Q9ULZ3	ASC_HUMAN	PYD and CARD domain containing	34	DAPIN. {ECO:0000255|PROSITE- ProRule:PRU00061}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of innate immune response (GO:0002218)|apoptotic process (GO:0006915)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to tumor necrosis factor (GO:0071356)|defense response to Gram-negative bacterium (GO:0050829)|defense response to virus (GO:0051607)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|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)|macropinocytosis (GO:0044351)|myeloid dendritic cell activation (GO:0001773)|myeloid dendritic cell activation involved in immune response (GO:0002277)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of interferon-beta production (GO:0032688)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of adaptive immune response (GO:0002821)|positive regulation of antigen processing and presentation of peptide antigen via MHC class II (GO:0002588)|positive regulation of apoptotic process (GO:0043065)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of cysteine-type endopeptidase activity (GO:2001056)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of interleukin-10 secretion (GO:2001181)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-6 secretion (GO:2000778)|positive regulation of interleukin-8 secretion (GO:2000484)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of phagocytosis (GO:0050766)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell migration (GO:2000406)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of intrinsic apoptotic signaling pathway (GO:2001242)|regulation of protein stability (GO:0031647)|regulation of tumor necrosis factor-mediated signaling pathway (GO:0010803)|signal transduction (GO:0007165)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	AIM2 inflammasome complex (GO:0097169)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|IkappaB kinase complex (GO:0008385)|mitochondrion (GO:0005739)|NLRP1 inflammasome complex (GO:0072558)|NLRP3 inflammasome complex (GO:0072559)|nucleolus (GO:0005730)|nucleus (GO:0005634)	cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|protein homodimerization activity (GO:0042803)|Pyrin domain binding (GO:0032090)	p.E34K(1)		NS(1)|kidney(1)	2						CCGTAGCCCTCGCGCAGCGGC	0.677																																						uc010cak.2		NA																	1	Substitution - Missense(1)		NS(1)		0						c.(100-102)GAG>CAG		PYD and CARD domain containing isoform a							38.0	35.0	36.0					16																	31213912		2196	4298	6494	SO:0001583	missense	29108				induction of apoptosis|positive regulation of interleukin-1 beta secretion|positive regulation of NF-kappaB transcription factor activity|proteolysis|tumor necrosis factor-mediated signaling pathway	IkappaB kinase complex	caspase activator activity|cysteine-type endopeptidase activity|protein homodimerization activity|Pyrin domain binding	g.chr16:31213912C>G	AB023416	CCDS10708.1, CCDS10709.1	16p11.2	2013-01-22			ENSG00000103490	ENSG00000103490			16608	protein-coding gene	gene with protein product		606838					Standard	NM_013258		Approved	TMS-1, CARD5, ASC	uc010cak.3	Q9ULZ3	OTTHUMG00000176753	ENST00000247470.9:c.100G>C	16.37:g.31213912C>G	ENSP00000247470:p.Glu34Gln					PYCARD_uc002ebm.2_Missense_Mutation_p.E34Q	p.E34Q	NM_013258	NP_037390	Q9ULZ3	ASC_HUMAN			1	340	-			34			DAPIN.		Q96D12|Q9BSZ5|Q9HBD0|Q9NXJ8	Missense_Mutation	SNP	ENST00000247470.9	37	c.100G>C	CCDS10708.1	.	.	.	.	.	.	.	.	.	.	C	17.37	3.373279	0.61624	.	.	ENSG00000103490	ENST00000350605;ENST00000247470	T;T	0.48201	0.82;0.82	4.59	3.57	0.40892	Pyrin (2);DEATH-like (2);	0.601605	0.15825	N	0.242804	T	0.65123	0.2661	M	0.84683	2.71	0.20926	N	0.999828	D;P	0.53151	0.958;0.896	P;P	0.59115	0.852;0.657	T	0.55673	-0.8104	10	0.35671	T	0.21	.	11.2251	0.48880	0.0:0.8138:0.1862:0.0	.	34;34	Q9ULZ3;Q9ULZ3-2	ASC_HUMAN;.	Q	34	ENSP00000340441:E34Q;ENSP00000247470:E34Q	ENSP00000247470:E34Q	E	-	1	0	PYCARD	31121413	0.004000	0.15560	0.039000	0.18376	0.712000	0.41017	1.509000	0.35780	2.269000	0.75478	0.511000	0.50034	GAG		0.677	PYCARD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255539.13	NM_013258		20	31	0	0	0	0	20	31				
NKD1	85407	broad.mit.edu	37	16	50666202	50666202	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr16:50666202G>A	ENST00000268459.3	+	9	930	c.706G>A	c.(706-708)Gac>Aac	p.D236N		NM_033119.4	NP_149110.1	Q969G9	NKD1_HUMAN	naked cuticle homolog 1 (Drosophila)	236					eye photoreceptor cell differentiation (GO:0001754)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of convergent extension involved in axis elongation (GO:1901233)|positive regulation of non-canonical Wnt signaling pathway via JNK cascade (GO:1901231)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of cell motility involved in somitogenic axis elongation (GO:0090249)|somatic muscle development (GO:0007525)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|prostate(1)|urinary_tract(2)	23		all_cancers(37;0.229)		GBM - Glioblastoma multiforme(240;0.243)		GTTCCAGGGTGACAGCCGCCT	0.557																																						uc002egg.1		NA																	0					0						c.(706-708)GAC>AAC		naked cuticle homolog 1							67.0	57.0	60.0					16																	50666202		2198	4300	6498	SO:0001583	missense	85407				Wnt receptor signaling pathway	cytoplasm|plasma membrane	calcium ion binding|protein binding	g.chr16:50666202G>A	AF358135	CCDS10743.1	16q12.1	2013-01-10			ENSG00000140807	ENSG00000140807		"""EF-hand domain containing"""	17045	protein-coding gene	gene with protein product		607851				11356022	Standard	NM_033119		Approved		uc002egg.2	Q969G9	OTTHUMG00000133169	ENST00000268459.3:c.706G>A	16.37:g.50666202G>A	ENSP00000268459:p.Asp236Asn						p.D236N	NM_033119	NP_149110	Q969G9	NKD1_HUMAN		GBM - Glioblastoma multiforme(240;0.243)	9	930	+		all_cancers(37;0.229)	236					B2RC39|Q8WZ08	Missense_Mutation	SNP	ENST00000268459.3	37	c.706G>A	CCDS10743.1	.	.	.	.	.	.	.	.	.	.	G	17.06	3.291906	0.59976	.	.	ENSG00000140807	ENST00000268459	T	0.63913	-0.07	5.14	5.14	0.70334	.	0.400469	0.29466	N	0.012061	T	0.51126	0.1656	L	0.38531	1.155	0.35150	D	0.769709	P	0.38597	0.639	B	0.35655	0.207	T	0.58869	-0.7560	10	0.16896	T	0.51	-23.7527	16.7889	0.85582	0.0:0.0:1.0:0.0	.	236	Q969G9	NKD1_HUMAN	N	236	ENSP00000268459:D236N	ENSP00000268459:D236N	D	+	1	0	NKD1	49223703	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.727000	0.68523	2.403000	0.81681	0.563000	0.77884	GAC		0.557	NKD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256873.1			16	38	0	0	0	0	16	38				
DRC7	84229	broad.mit.edu	37	16	57761225	57761225	+	Silent	SNP	G	G	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr16:57761225G>A	ENST00000360716.3	+	16	2321	c.2100G>A	c.(2098-2100)ctG>ctA	p.L700L	CCDC135_ENST00000394337.4_Silent_p.L700L|CCDC135_ENST00000336825.8_Silent_p.L635L			Q8IY82	CC135_HUMAN		700					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|motile cilium (GO:0031514)		p.L700L(1)		breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						TGGAGATTCTGAAGCTTCGAG	0.552																																						uc002emi.2		NA																	1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(2098-2100)CTG>CTA		coiled-coil domain containing 135							116.0	113.0	114.0					16																	57761225		2198	4300	6498	SO:0001819	synonymous_variant	84229					cytoplasm		g.chr16:57761225G>A																												ENST00000360716.3:c.2100G>A	16.37:g.57761225G>A						CCDC135_uc002emj.2_Silent_p.L700L|CCDC135_uc002emk.2_Silent_p.L635L	p.L700L	NM_032269	NP_115645	Q8IY82	CC135_HUMAN			15	2189	+			700			Potential.		A8K943|Q8NAA0|Q9H080	Silent	SNP	ENST00000360716.3	37	c.2100G>A	CCDS10787.1																																																																																				0.552	CCDC135-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433323.2			44	111	0	0	0	0	44	111				
CES2	8824	broad.mit.edu	37	16	66975679	66975679	+	Silent	SNP	G	G	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr16:66975679G>A	ENST00000317091.4	+	8	2241	c.1257G>A	c.(1255-1257)agG>agA	p.R419R	RP11-361L15.4_ENST00000566869.1_RNA|CES2_ENST00000417689.1_Silent_p.R419R	NM_003869.5	NP_003860.2	O00748	EST2_HUMAN	carboxylesterase 2	355					catabolic process (GO:0009056)	endoplasmic reticulum (GO:0005783)	carboxylic ester hydrolase activity (GO:0052689)|methylumbelliferyl-acetate deacetylase activity (GO:0047374)			breast(1)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|urinary_tract(1)	12		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0663)|Epithelial(162;0.166)	Dabigatran etexilate(DB06695)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Prasugrel(DB06209)	AGGTCATGAGGATCTATGATA	0.572																																					Ovarian(70;1230 1691 37888 38351)	uc002eqr.2		NA																	0					0						c.(1255-1257)AGG>AGA		carboxylesterase 2 isoform 1							135.0	145.0	142.0					16																	66975679		2200	4300	6500	SO:0001819	synonymous_variant	8824				catabolic process	endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity	g.chr16:66975679G>A	BC032095	CCDS10825.1, CCDS45507.1	16q22.1	2010-10-12	2010-10-12		ENSG00000172831	ENSG00000172831		"""Carboxylesterases"""	1864	protein-coding gene	gene with protein product		605278	"""carboxylesterase 2 (intestine, liver)"""			9169443, 9144407, 20931200	Standard	NM_198061		Approved	CE-2, iCE, CES2A1	uc002eqr.3	O00748	OTTHUMG00000137517	ENST00000317091.4:c.1257G>A	16.37:g.66975679G>A						CES2_uc002eqq.2_Silent_p.R419R|CES2_uc002eqs.2_Silent_p.R262R	p.R419R	NM_003869	NP_003860	O00748	EST2_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0663)|Epithelial(162;0.166)	8	2257	+		Ovarian(137;0.0563)	355					A8K367|Q16859|Q5MAB8|Q7Z366|Q8IUP4|Q8TCP8	Silent	SNP	ENST00000317091.4	37	c.1257G>A	CCDS10825.1																																																																																				0.572	CES2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268838.2	NM_003869		62	177	0	0	0	0	62	177				
HSD11B2	3291	broad.mit.edu	37	16	67469873	67469873	+	Silent	SNP	C	C	T	rs199824469		TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr16:67469873C>T	ENST00000326152.5	+	3	624	c.492C>T	c.(490-492)ctC>ctT	p.L164L	HSD11B2_ENST00000567684.2_3'UTR|ATP6V0D1_ENST00000567694.1_5'Flank	NM_000196.3	NP_000187.3	P80365	DHI2_HUMAN	hydroxysteroid (11-beta) dehydrogenase 2	164					female pregnancy (GO:0007565)|glucocorticoid biosynthetic process (GO:0006704)|regulation of blood volume by renal aldosterone (GO:0002017)|response to drug (GO:0042493)|response to food (GO:0032094)|response to glucocorticoid (GO:0051384)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)	endoplasmic reticulum (GO:0005783)	11-beta-hydroxysteroid dehydrogenase [NAD(P)] activity (GO:0003845)|NAD binding (GO:0051287)|steroid binding (GO:0005496)			breast(1)|endometrium(1)|liver(2)|lung(3)|upper_aerodigestive_tract(1)	8		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0401)|Epithelial(162;0.0891)		TGTGGGGCCTCGTCAACAACG	0.602																																						uc002etd.2		NA																	0					0						c.(490-492)CTC>CTT		hydroxysteroid (11-beta) dehydrogenase 2	NADH(DB00157)						79.0	72.0	74.0					16																	67469873		2198	4300	6498	SO:0001819	synonymous_variant	3291				glucocorticoid biosynthetic process	endoplasmic reticulum|microsome		g.chr16:67469873C>T	U14631	CCDS10837.1	16q22	2011-09-14			ENSG00000176387	ENSG00000176387	1.1.1.-	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	5209	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 9C, member 3"""	614232				7859916, 8611140, 19027726	Standard	NM_000196		Approved	SDR9C3	uc002etd.3	P80365	OTTHUMG00000137507	ENST00000326152.5:c.492C>T	16.37:g.67469873C>T							p.L164L	NM_000196	NP_000187	P80365	DHI2_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0401)|Epithelial(162;0.0891)	3	608	+		Ovarian(137;0.0563)	164					A7LB28|C5HTY7|Q13194|Q6P2G9|Q8N439|Q96QN8|Q9UC50|Q9UC51|Q9UCW5|Q9UCW6|Q9UCW7|Q9UCW8	Silent	SNP	ENST00000326152.5	37	c.492C>T	CCDS10837.1																																																																																				0.602	HSD11B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268826.3	NM_000196		22	78	0	0	0	0	22	78				
NFATC3	4775	broad.mit.edu	37	16	68160439	68160439	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr16:68160439C>T	ENST00000346183.3	+	3	1351	c.1327C>T	c.(1327-1329)Cat>Tat	p.H443Y	NFATC3_ENST00000329524.4_Missense_Mutation_p.H443Y|NFATC3_ENST00000349223.5_Missense_Mutation_p.H443Y|NFATC3_ENST00000535127.2_3'UTR|NFATC3_ENST00000575270.1_Missense_Mutation_p.H443Y	NM_173165.2	NP_775188.1	Q12968	NFAC3_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 3	443	RHD. {ECO:0000255|PROSITE- ProRule:PRU00265}.				cellular respiration (GO:0045333)|cellular response to calcium ion (GO:0071277)|cellular response to lithium ion (GO:0071285)|Fc-epsilon receptor signaling pathway (GO:0038095)|heart development (GO:0007507)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|muscle cell development (GO:0055001)|patterning of blood vessels (GO:0001569)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|smooth muscle cell differentiation (GO:0051145)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	44		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0452)|all cancers(182;0.24)		TAAAACTCATCATCGAGCCCA	0.433																																						uc002evo.1		NA																	0				upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	3						c.(1327-1329)CAT>TAT		nuclear factor of activated T-cells,							130.0	108.0	116.0					16																	68160439		2198	4300	6498	SO:0001583	missense	4775				inflammatory response|transcription from RNA polymerase II promoter	nucleolus|plasma membrane	DNA binding	g.chr16:68160439C>T	L41067	CCDS10860.1, CCDS10861.1, CCDS10862.1	16q22	2009-11-24			ENSG00000072736	ENSG00000072736		"""Nuclear factor of activated T-cells"""	7777	protein-coding gene	gene with protein product		602698				7749981	Standard	NM_004555		Approved	NFAT4, NFATX	uc002evo.2	Q12968	OTTHUMG00000137555	ENST00000346183.3:c.1327C>T	16.37:g.68160439C>T	ENSP00000300659:p.His443Tyr					NFATC3_uc010vkl.1_5'UTR|NFATC3_uc010vkm.1_5'UTR|NFATC3_uc010vkn.1_5'UTR|NFATC3_uc010vko.1_5'UTR|NFATC3_uc010vkp.1_5'UTR|NFATC3_uc010vkq.1_5'UTR|NFATC3_uc002evl.2_Intron|NFATC3_uc002evk.2_Missense_Mutation_p.H443Y|NFATC3_uc002evm.1_Missense_Mutation_p.H443Y|NFATC3_uc002evn.1_Missense_Mutation_p.H443Y|NFATC3_uc010vkr.1_5'UTR|NFATC3_uc010vks.1_5'UTR|NFATC3_uc010vkt.1_5'UTR|NFATC3_uc010vku.1_5'UTR|NFATC3_uc010vkv.1_5'UTR|NFATC3_uc010vkw.1_5'UTR|NFATC3_uc010vkx.1_5'UTR|NFATC3_uc010vky.1_5'UTR|NFATC3_uc010vkz.1_5'UTR|NFATC3_uc010vla.1_5'UTR|NFATC3_uc010vlb.1_5'UTR|NFATC3_uc010vlc.1_5'UTR	p.H443Y	NM_173165	NP_775188	Q12968	NFAC3_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0452)|all cancers(182;0.24)	3	1537	+		Ovarian(137;0.0563)	443			RHD.		O75211|Q14516|Q99840|Q99841|Q99842	Missense_Mutation	SNP	ENST00000346183.3	37	c.1327C>T	CCDS10860.1	.	.	.	.	.	.	.	.	.	.	C	28.4	4.913908	0.92178	.	.	ENSG00000072736	ENST00000349223;ENST00000346183;ENST00000329524	T;T;T	0.43294	0.95;0.95;0.95	5.34	5.34	0.76211	Rel homology (3);p53-like transcription factor, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.71031	0.3292	M	0.86953	2.85	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.997;0.999;0.997;0.997	T	0.76772	-0.2836	10	0.87932	D	0	-10.6148	19.0322	0.92961	0.0:1.0:0.0:0.0	.	443;443;443;443	Q12968;Q12968-3;B5B2S0;B5B2S2	NFAC3_HUMAN;.;.;.	Y	443	ENSP00000264008:H443Y;ENSP00000300659:H443Y;ENSP00000331324:H443Y	ENSP00000331324:H443Y	H	+	1	0	NFATC3	66717940	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.693000	0.84214	2.500000	0.84329	0.555000	0.69702	CAT		0.433	NFATC3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268890.2	NM_004555		33	71	0	0	0	0	33	71				
ZFP1	162239	broad.mit.edu	37	16	75203755	75203755	+	Silent	SNP	C	C	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr16:75203755C>T	ENST00000393430.2	+	4	871	c.747C>T	c.(745-747)ttC>ttT	p.F249F	ZFP1_ENST00000332307.4_Silent_p.F216F|ZFP1_ENST00000464850.1_3'UTR|ZFP1_ENST00000570010.1_Silent_p.F249F|ZFP1_ENST00000568079.1_3'UTR			Q6P2D0	ZFP1_HUMAN	ZFP1 zinc finger protein	249					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|large_intestine(4)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	12						GAAAAGCTTTCACCCACCAGT	0.443																																					NSCLC(187;1429 2122 10143 20357 42217)	uc002fdo.2		NA																	0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(745-747)TTC>TTT		zinc finger protein 1 homolog							61.0	61.0	61.0					16																	75203755		2198	4300	6498	SO:0001819	synonymous_variant	162239				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:75203755C>T	AK094761	CCDS10914.2	16q22.3	2013-01-08	2012-11-27		ENSG00000184517	ENSG00000184517		"""Zinc fingers, C2H2-type"", ""-"""	23328	protein-coding gene	gene with protein product			"""zinc finger protein 1 homolog (mouse)"", ""zinc finger protein 1"""			2574853	Standard	NM_153688		Approved	FLJ34243, ZNF475	uc002fdo.3	Q6P2D0	OTTHUMG00000137602	ENST00000393430.2:c.747C>T	16.37:g.75203755C>T						ZFP1_uc002fdp.2_Silent_p.F194F|ZFP1_uc010cgt.2_Silent_p.F216F|ZFP1_uc010cgs.2_Silent_p.F194F|ZFP1_uc002fdq.2_Silent_p.F249F	p.F249F	NM_153688	NP_710155	Q6P2D0	ZFP1_HUMAN			4	911	+			249			C2H2-type 3.		A8K5Q7|B4DKG9|Q8N188|Q8N9F9	Silent	SNP	ENST00000393430.2	37	c.747C>T	CCDS10914.2																																																																																				0.443	ZFP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269013.2	NM_153688		28	59	0	0	0	0	28	59				
PKD1L2	114780	broad.mit.edu	37	16	81145966	81145966	+	RNA	SNP	G	G	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr16:81145966G>A	ENST00000534142.1	-	0	1173				PKD1L2_ENST00000525539.1_RNA|PKD1L2_ENST00000533478.1_RNA			Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						ion transport (GO:0006811)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						CTGTCTCACTGAAGCTGATGC	0.532																																						uc002fgh.1		NA																	0				ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.(6784-6786)TTC>TTT		polycystin 1-like 2 isoform a							41.0	39.0	40.0					16																	81145966		1999	4162	6161			114780				neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding	g.chr16:81145966G>A	AY164483	CCDS61998.1, CCDS61999.1	16q23.2	2014-09-11			ENSG00000166473	ENSG00000166473			21715	protein-coding gene	gene with protein product		607894				12782129	Standard	NM_052892		Approved	KIAA1879	uc002fgf.1	Q7Z442	OTTHUMG00000166126		16.37:g.81145966G>A						PKD1L2_uc002fgf.1_Silent_p.F62F|PKD1L2_uc002fgg.1_RNA	p.F2262F	NM_052892	NP_443124	Q7Z442	PK1L2_HUMAN			42	6786	-			2262			Cytoplasmic (Potential).		Q6UEE1|Q6ZN46|Q6ZSP2|Q8N1H9|Q96CL2|Q96Q08	Silent	SNP	ENST00000534142.1	37	c.6786C>T																																																																																					0.532	PKD1L2-009	PUTATIVE	basic|exp_conf	processed_transcript	polymorphic_pseudogene	OTTHUMT00000387969.1			19	38	0	0	0	0	19	38				
TRAPPC2L	51693	broad.mit.edu	37	16	88925146	88925146	+	Silent	SNP	C	C	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr16:88925146C>A	ENST00000301021.3	+	2	218	c.153C>A	c.(151-153)gtC>gtA	p.V51V	GALNS_ENST00000542788.1_5'Flank|TRAPPC2L_ENST00000561840.1_Nonsense_Mutation_p.S12*|GALNS_ENST00000569433.1_5'Flank|GALNS_ENST00000565364.1_5'Flank|TRAPPC2L_ENST00000567895.1_Silent_p.V21V|TRAPPC2L_ENST00000565504.1_Silent_p.V51V|GALNS_ENST00000268695.5_5'Flank|GALNS_ENST00000568311.1_5'Flank|TRAPPC2L_ENST00000567312.1_Silent_p.V51V|TRAPPC2L_ENST00000564365.1_5'UTR|TRAPPC2L_ENST00000568583.1_Silent_p.V51V			Q9UL33	TPC2L_HUMAN	trafficking protein particle complex 2-like	51					ER to Golgi vesicle-mediated transport (GO:0006888)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)				lung(4)|pancreas(1)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(80;0.0477)		AGGCCCTGGTCGACCAGAGGG	0.577																																						uc002fmc.2		NA																	0					0						c.(151-153)GTC>GTA		trafficking protein particle complex 2-like							91.0	73.0	79.0					16																	88925146		2198	4300	6498	SO:0001819	synonymous_variant	51693				ER to Golgi vesicle-mediated transport	endoplasmic reticulum|Golgi apparatus|perinuclear region of cytoplasm		g.chr16:88925146C>A	BC011369	CCDS10971.1	16q24.3	2008-02-05			ENSG00000167515	ENSG00000167515			30887	protein-coding gene	gene with protein product		610970				11042152	Standard	NM_016209		Approved	HSPC176	uc002fmc.3	Q9UL33	OTTHUMG00000137861	ENST00000301021.3:c.153C>A	16.37:g.88925146C>A						GALNS_uc002fly.3_5'Flank|GALNS_uc010cid.2_5'Flank|GALNS_uc002flz.3_5'Flank|GALNS_uc002fma.2_5'Flank|TRAPPC2L_uc010cie.2_RNA|TRAPPC2L_uc002fmd.3_Silent_p.V51V|TRAPPC2L_uc002fme.3_Silent_p.V51V|TRAPPC2L_uc002fmf.2_5'Flank|uc002fmg.2_5'Flank	p.V51V	NM_016209	NP_057293	Q9UL33	TPC2L_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0477)	2	206	+			51					B2R4M9|Q6ZTA7|Q9NZZ4	Silent	SNP	ENST00000301021.3	37	c.153C>A	CCDS10971.1																																																																																				0.577	TRAPPC2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269542.1	NM_016209		15	51	1	0	0.00316338	0.00323468	15	51				
ABR	29	broad.mit.edu	37	17	960284	960284	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr17:960284G>C	ENST00000302538.5	-	13	1586	c.1440C>G	c.(1438-1440)ttC>ttG	p.F480L	ABR_ENST00000573895.1_5'UTR|ABR_ENST00000574437.1_Missense_Mutation_p.F434L|ABR_ENST00000536794.2_Missense_Mutation_p.F262L|ABR_ENST00000544583.2_Missense_Mutation_p.F434L|ABR_ENST00000291107.2_Missense_Mutation_p.F443L	NM_001282149.1|NM_021962.3	NP_001269078.1|NP_068781.2	Q12979	ABR_HUMAN	active BCR-related	480	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|brain development (GO:0007420)|inner ear morphogenesis (GO:0042472)|negative regulation of cell migration (GO:0030336)|negative regulation of inflammatory response (GO:0050728)|negative regulation of neutrophil degranulation (GO:0043314)|neuromuscular process controlling balance (GO:0050885)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of phagocytosis (GO:0050766)|regulation of small GTPase mediated signal transduction (GO:0051056)|response to lipopolysaccharide (GO:0032496)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|Rac GTPase activator activity (GO:0030675)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39				UCEC - Uterine corpus endometrioid carcinoma (25;0.0228)		TCCTAAGCTTGAAACAGGATC	0.582																																					Esophageal Squamous(197;2016 2115 4129 29033 46447)	uc002fsd.2		NA																	0				upper_aerodigestive_tract(1)	1						c.(1438-1440)TTC>TTG		active breakpoint cluster region-related							170.0	155.0	160.0					17																	960284		2203	4300	6503	SO:0001583	missense	29				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr17:960284G>C	L19704	CCDS10999.1, CCDS11000.1, CCDS54060.1, CCDS58497.1, CCDS73936.1	17p13	2013-01-10	2012-02-27		ENSG00000159842	ENSG00000159842		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	81	protein-coding gene	gene with protein product		600365	"""active BCR-related gene"""			2587217, 7479768	Standard	NM_001092		Approved	MDB	uc002fsd.4	Q12979	OTTHUMG00000090313	ENST00000302538.5:c.1440C>G	17.37:g.960284G>C	ENSP00000303909:p.Phe480Leu					ABR_uc002fse.2_Missense_Mutation_p.F434L|ABR_uc010vqg.1_Missense_Mutation_p.F262L|ABR_uc002fsg.2_Missense_Mutation_p.F443L|ABR_uc002fsh.1_Intron	p.F480L	NM_021962	NP_068781	Q12979	ABR_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0228)	13	1550	-			480			C2.		B3KW89|B7Z6H7|D3DTH3|D3DTH4|F5H3S2|F5H8B3|Q13693|Q13694	Missense_Mutation	SNP	ENST00000302538.5	37	c.1440C>G	CCDS10999.1	.	.	.	.	.	.	.	.	.	.	G	17.52	3.409671	0.62399	.	.	ENSG00000159842	ENST00000302538;ENST00000544583;ENST00000291107;ENST00000536794	T;T;T;T	0.19669	2.13;2.13;2.13;2.13	5.18	4.21	0.49690	.	0.049780	0.85682	D	0.000000	T	0.12987	0.0315	L	0.29908	0.895	0.43569	D	0.995893	B;B;B	0.24618	0.107;0.012;0.107	B;B;B	0.22386	0.039;0.015;0.039	T	0.08249	-1.0731	10	0.11485	T	0.65	.	8.8025	0.34918	0.1725:0.0:0.8275:0.0	.	262;443;480	B7Z683;Q12979-2;Q12979	.;.;ABR_HUMAN	L	480;434;443;262	ENSP00000303909:F480L;ENSP00000442048:F434L;ENSP00000291107:F443L;ENSP00000437429:F262L	ENSP00000291107:F443L	F	-	3	2	ABR	907034	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.858000	0.39408	1.205000	0.43262	0.561000	0.74099	TTC		0.582	ABR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206675.4			82	118	0	0	0	0	82	118				
TMEM95	339168	broad.mit.edu	37	17	7259355	7259355	+	Silent	SNP	T	T	C	rs546814018	byFrequency	TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr17:7259355T>C	ENST00000576060.1	+	4	342	c.315T>C	c.(313-315)tgT>tgC	p.C105C	TMEM95_ENST00000330767.4_Silent_p.C105C|RP11-542C16.1_ENST00000572417.1_RNA|TMEM95_ENST00000389982.4_Silent_p.C105C			Q3KNT9	TMM95_HUMAN	transmembrane protein 95	105						integral component of membrane (GO:0016021)				large_intestine(1)|lung(2)	3		Prostate(122;0.173)				CAGCTCTCTGTCCCCCCGCCT	0.592											OREG0024137	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	t|||	374	0.0746805	0.0431	0.0893	5008	,	,		16489	0.1389		0.1024	False		,,,				2504	0.0123					uc002ggh.1		NA																	0					0						c.(313-315)TGT>TGC		transmembrane protein 95							83.0	81.0	81.0					17																	7259355		2203	4300	6503	SO:0001819	synonymous_variant	339168					integral to membrane		g.chr17:7259355T>C		CCDS32546.1	17p13.1	2005-12-15			ENSG00000182896	ENSG00000182896			27898	protein-coding gene	gene with protein product						12975309	Standard	NM_198154		Approved	MGC129793, UNQ9390	uc002ggf.1	Q3KNT9	OTTHUMG00000132899	ENST00000576060.1:c.315T>C	17.37:g.7259355T>C			OREG0024137	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	640	TMEM95_uc002ggf.1_Silent_p.C105C|TMEM95_uc002ggg.1_Silent_p.C105C	p.C105C	NM_198154	NP_937797	Q3KNT9	TMM95_HUMAN			4	342	+		Prostate(122;0.173)	105			Extracellular (Potential).		B7WPI7|Q6UXT3|Q8IW68	Silent	SNP	ENST00000576060.1	37	c.315T>C																																																																																					0.592	TMEM95-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000440555.2	NM_198154		5	104	0	0	0	0	5	104				
TP53	7157	broad.mit.edu	37	17	7577548	7577548	+	Missense_Mutation	SNP	C	C	T	rs28934575|rs397516437		TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr17:7577548C>T	ENST00000269305.4	-	7	922	c.733G>A	c.(733-735)Ggc>Agc	p.G245S	TP53_ENST00000359597.4_Missense_Mutation_p.G245S|TP53_ENST00000455263.2_Missense_Mutation_p.G245S|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Missense_Mutation_p.G245S|TP53_ENST00000420246.2_Missense_Mutation_p.G245S|TP53_ENST00000445888.2_Missense_Mutation_p.G245S	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	245	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		G -> A (in sporadic cancers; somatic mutation).|G -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:1978757}.|G -> D (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:2259385}.|G -> E (in a sporadic cancer; somatic mutation).|G -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|G -> L (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> N (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> R (in sporadic cancers; somatic mutation).|G -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934575). {ECO:0000269|PubMed:8829627}.|G -> V (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:2263646}.		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.G245S(304)|p.G245C(59)|p.G245R(10)|p.G152S(8)|p.0?(8)|p.?(5)|p.G152C(4)|p.G244_M246>V(3)|p.G245N(2)|p.G245fs*2(2)|p.G245H(1)|p.G245L(1)|p.G244fs*17(1)|p.G245F(1)|p.C242_M246>L(1)|p.C238_M246delCNSSCMGGM(1)|p.G245fs*22(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.M243fs*18(1)|p.G151_M153>V(1)|p.G245del(1)|p.G245fs*14(1)|p.G245fs*17(1)|p.G245fs*16(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)	CGGTTCATGCCGCCCATGCAG	0.577	G245S(LS1034_LARGE_INTESTINE)|G245S(NUGC2_STOMACH)|G245S(PANC0403_PANCREAS)|G245S(SKLMS1_SOFT_TISSUE)|G245S(SKMEL2_SKIN)	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	G245S(SKLMS1_SOFT_TISSUE)|G245S(LS1034_LARGE_INTESTINE)|G245S(NUGC2_STOMACH)|G245S(PANC0403_PANCREAS)|G245S(SKMEL2_SKIN)	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		420	Substitution - Missense(390)|Deletion - Frameshift(8)|Whole gene deletion(8)|Complex - deletion inframe(5)|Unknown(5)|Deletion - In frame(3)|Insertion - Frameshift(1)	p.G245S(274)|p.G245D(93)|p.G245V(50)|p.G245C(47)|p.G245R(10)|p.G245A(8)|p.0?(7)|p.G245G(3)|p.G245fs*2(3)|p.G245N(2)|p.G245H(1)|p.G245L(1)|p.G244fs*17(1)|p.G245F(1)|p.G245E(1)|p.C242_M246>L(1)|p.C238_M246delCNSSCMGGM(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.G245fs*22(1)|p.M243fs*18(1)|p.G245del(1)|p.G245fs*14(1)|p.G245fs*17(1)|p.G245fs*16(1)	large_intestine(119)|lung(51)|breast(38)|ovary(29)|central_nervous_system(27)|upper_aerodigestive_tract(25)|stomach(25)|haematopoietic_and_lymphoid_tissue(23)|oesophagus(22)|urinary_tract(14)|skin(9)|liver(7)|prostate(7)|biliary_tract(5)|bone(5)|pancreas(4)|soft_tissue(3)|vulva(2)|endometrium(2)|kidney(1)|cervix(1)|salivary_gland(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	GRCh37	CM010463|CM900210|CM920674	TP53	M	rs28934575	c.(733-735)GGC>AGC	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a		C	SER/GLY,SER/GLY,SER/GLY,SER/GLY,SER/GLY,SER/GLY,SER/GLY	0,4406		0,0,2203	149.0	112.0	125.0	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	733,733,733,733,337,337,337	4.6	1.0	17	dbSNP_125	125	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense,missense,missense	TP53	NM_000546.4,NM_001126112.1,NM_001126113.1,NM_001126114.1,NM_001126115.1,NM_001126116.1,NM_001126117.1	56,56,56,56,56,56,56	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	245/394,245/394,245/347,245/342,113/262,113/210,113/215	7577548	1,13005	2203	4300	6503	SO:0001583	missense	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577548C>T	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.733G>A	17.37:g.7577548C>T	ENSP00000269305:p.Gly245Ser	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Missense_Mutation_p.G245S|TP53_uc002gih.2_Missense_Mutation_p.G245S|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.G113S|TP53_uc010cng.1_Missense_Mutation_p.G113S|TP53_uc002gii.1_Missense_Mutation_p.G113S|TP53_uc010cnh.1_Missense_Mutation_p.G245S|TP53_uc010cni.1_Missense_Mutation_p.G245S|TP53_uc002gij.2_Missense_Mutation_p.G245S|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.G152S|TP53_uc002gio.2_Missense_Mutation_p.G113S	p.G245S	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	7	927	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	245		G -> N (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> A (in sporadic cancers; somatic mutation).|G -> V (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> R (in sporadic cancers; somatic mutation).|G -> E (in a sporadic cancer; somatic mutation).|G -> D (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|G -> L (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).	|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.|Interaction with AXIN1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.733G>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	33	5.259904	0.95368	0.0	1.16E-4	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99894	-7.58;-7.58;-7.58;-7.58;-7.58;-7.58;-7.58;-7.58	4.62	4.62	0.57501	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99878	0.9942	M	0.84585	2.705	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;0.999;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	0.999;0.976;0.992;0.999;0.999;1.0	D	0.96039	0.9023	10	0.87932	D	0	-19.4293	15.3618	0.74483	0.0:1.0:0.0:0.0	rs28934575	245;245;152;245;245;245	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	S	245;245;245;245;245;245;234;152;113;152	ENSP00000410739:G245S;ENSP00000352610:G245S;ENSP00000269305:G245S;ENSP00000398846:G245S;ENSP00000391127:G245S;ENSP00000391478:G245S;ENSP00000425104:G113S;ENSP00000423862:G152S	ENSP00000269305:G245S	G	-	1	0	TP53	7518273	1.000000	0.71417	0.965000	0.40720	0.974000	0.67602	7.609000	0.82925	2.564000	0.86499	0.462000	0.41574	GGC		0.577	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		43	59	0	0	0	0	43	59				
MYH13	8735	broad.mit.edu	37	17	10206785	10206785	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr17:10206785C>T	ENST00000418404.3	-	37	5660	c.5497G>A	c.(5497-5499)Gaa>Aaa	p.E1833K	MYH13_ENST00000252172.4_Missense_Mutation_p.E1833K|RP11-401O9.4_ENST00000609088.1_RNA			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	1833					cellular response to starvation (GO:0009267)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)	extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						CTCTTCTGTTCCACATCAAGC	0.517																																						uc002gmk.1		NA																	0				ovary(4)|skin(2)	6						c.(5497-5499)GAA>AAA		myosin, heavy polypeptide 13, skeletal muscle							141.0	138.0	139.0					17																	10206785		1922	4138	6060	SO:0001583	missense	8735				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:10206785C>T	AF075248	CCDS45613.1	17p13	2011-09-27	2006-09-29			ENSG00000006788		"""Myosins / Myosin superfamily : Class II"""	7571	protein-coding gene	gene with protein product	"""extraocular muscle myosin heavy chain"", ""extraocular myosin heavy chain"""	603487	"""myosin, heavy polypeptide 13, skeletal muscle"""			9806854	Standard	NM_003802		Approved	MyHC-eo	uc002gmk.1	Q9UKX3		ENST00000418404.3:c.5497G>A	17.37:g.10206785C>T	ENSP00000404570:p.Glu1833Lys						p.E1833K	NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN			38	5587	-			1833			Potential.		O95252|Q9P0U8	Missense_Mutation	SNP	ENST00000418404.3	37	c.5497G>A	CCDS45613.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.631250	0.87660	.	.	ENSG00000006788	ENST00000252172	D	0.90504	-2.68	3.92	3.92	0.45320	Myosin tail (1);	.	.	.	.	D	0.97266	0.9106	H	0.98542	4.26	0.43942	D	0.996604	D	0.89917	1.0	D	0.97110	1.0	D	0.99139	1.0855	9	0.87932	D	0	.	16.4927	0.84206	0.0:1.0:0.0:0.0	.	1833	Q9UKX3	MYH13_HUMAN	K	1833	ENSP00000252172:E1833K	ENSP00000252172:E1833K	E	-	1	0	MYH13	10147510	1.000000	0.71417	0.949000	0.38748	0.658000	0.38924	7.500000	0.81588	2.168000	0.68352	0.561000	0.74099	GAA		0.517	MYH13-003	KNOWN	alternative_3_UTR|alternative_5_UTR|NMD_exception|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442255.1	NM_003802		74	106	0	0	0	0	74	106				
LRRC48	83450	broad.mit.edu	37	17	17898417	17898417	+	Silent	SNP	C	C	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr17:17898417C>A	ENST00000399187.1	+	8	1034	c.816C>A	c.(814-816)ctC>ctA	p.L272L	LRRC48_ENST00000399182.1_Silent_p.L272L|LRRC48_ENST00000584166.1_Silent_p.L272L|LRRC48_ENST00000411504.2_Silent_p.L272L|LRRC48_ENST00000313838.8_Silent_p.L272L	NM_031294.3	NP_112584.3	Q9H069	LRC48_HUMAN	leucine rich repeat containing 48	272						cytoplasm (GO:0005737)				breast(1)|large_intestine(2)|lung(2)|pancreas(1)|urinary_tract(1)	7	all_neural(463;0.228)					TCGGTGAGCTCCTTGAGACAT	0.547																																						uc010vxd.1		NA																	0				pancreas(1)	1						c.(814-816)CTC>CTA		leucine rich repeat containing 48 isoform a							101.0	104.0	103.0					17																	17898417		2089	4214	6303	SO:0001819	synonymous_variant	83450					cytoplasm		g.chr17:17898417C>A	AK093317	CCDS45622.1, CCDS45623.1	17p11.2	2014-07-18			ENSG00000171962	ENSG00000171962			25384	protein-coding gene	gene with protein product						11997338, 23354437	Standard	NM_001130090		Approved	DKFZP586M1120	uc021trk.1	Q9H069	OTTHUMG00000059355	ENST00000399187.1:c.816C>A	17.37:g.17898417C>A						LRRC48_uc002gsa.2_Silent_p.L272L|LRRC48_uc010vxc.1_Silent_p.L272L|LRRC48_uc002gsb.2_Silent_p.L272L|LRRC48_uc010vxe.1_5'Flank	p.L272L	NM_001130090	NP_001123562	Q9H069	LRC48_HUMAN			9	1195	+	all_neural(463;0.228)		272					A8KAE6|Q86SF9|Q86W73|Q8IWG0	Silent	SNP	ENST00000399187.1	37	c.816C>A	CCDS45622.1																																																																																				0.547	LRRC48-001	KNOWN	non_canonical_conserved|non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131945.3	NM_031294		25	21	1	0	3.8e-18	4.07e-18	25	21				
MAP2K3	5606	broad.mit.edu	37	17	21208407	21208407	+	Silent	SNP	C	C	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr17:21208407C>T	ENST00000342679.4	+	9	990	c.741C>T	c.(739-741)gtC>gtT	p.V247V	MAP2K3_ENST00000361818.5_Silent_p.V218V|MAP2K3_ENST00000316920.6_Silent_p.V218V	NM_145109.2	NP_659731.1	P46734	MP2K3_HUMAN	mitogen-activated protein kinase kinase 3	247	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|cardiac muscle contraction (GO:0060048)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokine biosynthetic process (GO:0042035)|signal transduction (GO:0007165)|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)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)								COAD - Colon adenocarcinoma(3;0.0131)|Colorectal(15;0.0553)		GCTACAATGTCAAGTCCGACG	0.647																																						uc002gys.2		NA																	0					0						c.(739-741)GTC>GTT		mitogen-activated protein kinase kinase 3							176.0	149.0	158.0					17																	21208407		2203	4300	6503	SO:0001819	synonymous_variant	5606				activation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of transcription, DNA-dependent|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|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr17:21208407C>T	L36719	CCDS11217.1, CCDS11218.1	17q11.2	2011-06-09			ENSG00000034152	ENSG00000034152		"""Mitogen-activated protein kinase cascade / Kinase kinases"""	6843	protein-coding gene	gene with protein product	"""MAPK/ERK kinase 3"", ""MAP kinase kinase 3"", ""dual specificity mitogen activated protein kinase kinase 3"""	602315		PRKMK3		9465908	Standard	NM_145109		Approved	MEK3, MKK3, MAPKK3	uc002gys.3	P46734	OTTHUMG00000134322	ENST00000342679.4:c.741C>T	17.37:g.21208407C>T						MAP2K3_uc002gyt.2_Silent_p.V218V|MAP2K3_uc002gyu.2_Silent_p.V218V	p.V247V	NM_145109	NP_659731	P46734	MP2K3_HUMAN		COAD - Colon adenocarcinoma(3;0.0131)|Colorectal(15;0.0553)	9	1006	+			247			Protein kinase.		B3KSK7|Q99441|Q9UE71|Q9UE72	Silent	SNP	ENST00000342679.4	37	c.741C>T	CCDS11217.1																																																																																				0.647	MAP2K3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259374.2	NM_145109		25	125	0	0	0	0	25	125				
ATAD5	79915	broad.mit.edu	37	17	29220740	29220740	+	Silent	SNP	G	G	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr17:29220740G>A	ENST00000321990.4	+	21	5247	c.4869G>A	c.(4867-4869)aaG>aaA	p.K1623K		NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	1623					cellular response to DNA damage stimulus (GO:0006974)	nucleus (GO:0005634)	ATP binding (GO:0005524)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				CAGAGACAAAGAAATCTATTC	0.393																																						uc002hfs.1		NA																	0				ovary(3)	3						c.(4867-4869)AAG>AAA		ATPase family, AAA domain containing 5							89.0	100.0	96.0					17																	29220740		2202	4300	6502	SO:0001819	synonymous_variant	79915				response to DNA damage stimulus	nucleus	ATP binding|nucleoside-triphosphatase activity	g.chr17:29220740G>A		CCDS11260.1	17q11.2	2010-04-21	2007-02-08	2007-02-08	ENSG00000176208	ENSG00000176208		"""ATPases / AAA-type"""	25752	protein-coding gene	gene with protein product	"""enhanced level of genomic instability 1 homolog (S. cerevisiae)"""	609534	"""chromosome 17 open reading frame 41"""	C17orf41		15983387, 11468690, 19755857	Standard	NM_024857		Approved	FLJ12735, FRAG1, ELG1	uc002hfs.1	Q96QE3	OTTHUMG00000132794	ENST00000321990.4:c.4869G>A	17.37:g.29220740G>A							p.K1623K	NM_024857	NP_079133	Q96QE3	ATAD5_HUMAN			21	5215	+		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)	1623					Q05DH0|Q69YR6|Q9H9I1	Silent	SNP	ENST00000321990.4	37	c.4869G>A	CCDS11260.1																																																																																				0.393	ATAD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256206.2	NM_024857		61	101	0	0	0	0	61	101				
C17orf75	64149	broad.mit.edu	37	17	30661853	30661853	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr17:30661853C>G	ENST00000577809.1	-	7	724	c.675G>C	c.(673-675)ttG>ttC	p.L225F	C17orf75_ENST00000225805.4_Missense_Mutation_p.L225F|RP11-227G15.3_ENST00000581915.1_RNA	NM_022344.3	NP_071739.2	Q9HAS0	NJMU_HUMAN	chromosome 17 open reading frame 75	225										ovary(1)	1		Breast(31;0.116)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.239)			GAGTGTAACTCAAAGCCTATG	0.363																																						uc002hhg.2		NA																	0				ovary(1)	1						c.(673-675)TTG>TTC		hypothetical protein LOC64149							98.0	83.0	88.0					17																	30661853		1817	4080	5897	SO:0001583	missense	64149				spermatogenesis			g.chr17:30661853C>G	AB062437	CCDS58537.1	17q11.2	2013-01-21			ENSG00000108666	ENSG00000108666			30173	protein-coding gene	gene with protein product							Standard	NM_022344		Approved	NJMU-R1	uc002hhg.3	Q9HAS0		ENST00000577809.1:c.675G>C	17.37:g.30661853C>G	ENSP00000464275:p.Leu225Phe						p.L225F	NM_022344	NP_071739	Q9HAS0	NJMU_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.239)		7	706	-		Breast(31;0.116)|Ovarian(249;0.182)	225					Q7Z2H4	Missense_Mutation	SNP	ENST00000577809.1	37	c.675G>C	CCDS58537.1	.	.	.	.	.	.	.	.	.	.	C	12.73	2.026100	0.35701	.	.	ENSG00000108666	ENST00000225805	.	.	.	5.56	1.27	0.21489	.	0.000000	0.85682	D	0.000000	T	0.67776	0.2929	M	0.65498	2.005	0.49389	D	0.999781	D	0.71674	0.998	D	0.69142	0.962	T	0.65841	-0.6070	9	0.87932	D	0	-10.1375	7.8067	0.29206	0.0:0.6862:0.1175:0.1963	.	225	Q9HAS0	NJMU_HUMAN	F	225	.	ENSP00000225805:L225F	L	-	3	2	C17orf75	27685966	1.000000	0.71417	0.983000	0.44433	0.987000	0.75469	1.433000	0.34947	0.099000	0.17552	0.591000	0.81541	TTG		0.363	C17orf75-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000447204.1	NM_022344		10	21	0	0	0	0	10	21				
C17orf75	64149	broad.mit.edu	37	17	30662447	30662447	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr17:30662447C>G	ENST00000577809.1	-	6	613	c.564G>C	c.(562-564)gaG>gaC	p.E188D	C17orf75_ENST00000225805.4_Missense_Mutation_p.E188D|RP11-227G15.3_ENST00000581915.1_RNA	NM_022344.3	NP_071739.2	Q9HAS0	NJMU_HUMAN	chromosome 17 open reading frame 75	188										ovary(1)	1		Breast(31;0.116)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.239)			TTATGTGACTCTCCAGGCCCC	0.398																																						uc002hhg.2		NA																	0				ovary(1)	1						c.(562-564)GAG>GAC		hypothetical protein LOC64149							160.0	154.0	156.0					17																	30662447		1890	4117	6007	SO:0001583	missense	64149				spermatogenesis			g.chr17:30662447C>G	AB062437	CCDS58537.1	17q11.2	2013-01-21			ENSG00000108666	ENSG00000108666			30173	protein-coding gene	gene with protein product							Standard	NM_022344		Approved	NJMU-R1	uc002hhg.3	Q9HAS0		ENST00000577809.1:c.564G>C	17.37:g.30662447C>G	ENSP00000464275:p.Glu188Asp						p.E188D	NM_022344	NP_071739	Q9HAS0	NJMU_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.239)		6	595	-		Breast(31;0.116)|Ovarian(249;0.182)	188					Q7Z2H4	Missense_Mutation	SNP	ENST00000577809.1	37	c.564G>C	CCDS58537.1	.	.	.	.	.	.	.	.	.	.	C	10.08	1.252256	0.22880	.	.	ENSG00000108666	ENST00000225805	.	.	.	5.68	3.71	0.42584	.	0.147887	0.64402	D	0.000013	T	0.42449	0.1203	L	0.46157	1.445	0.35031	D	0.758784	P	0.37370	0.592	B	0.34452	0.183	T	0.51896	-0.8647	9	0.31617	T	0.26	-20.6352	11.1167	0.48264	0.0:0.8527:0.0:0.1473	.	188	Q9HAS0	NJMU_HUMAN	D	188	.	ENSP00000225805:E188D	E	-	3	2	C17orf75	27686560	0.890000	0.30428	0.958000	0.39756	0.287000	0.27160	1.055000	0.30467	0.760000	0.33108	0.563000	0.77884	GAG		0.398	C17orf75-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000447204.1	NM_022344		27	150	0	0	0	0	27	150				
LIG3	3980	broad.mit.edu	37	17	33316674	33316674	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr17:33316674C>T	ENST00000378526.4	+	4	1014	c.881C>T	c.(880-882)tCa>tTa	p.S294L	LIG3_ENST00000262327.5_Missense_Mutation_p.S294L	NM_013975.3	NP_039269.2	P49916	DNLI3_HUMAN	ligase III, DNA, ATP-dependent	294					base-excision repair (GO:0006284)|base-excision repair, DNA ligation (GO:0006288)|DNA biosynthetic process (GO:0071897)|DNA repair (GO:0006281)|double-strand break repair via nonhomologous end joining (GO:0006303)|lagging strand elongation (GO:0006273)|mitochondrial DNA repair (GO:0043504)|negative regulation of DNA recombination (GO:0045910)|nucleotide-excision repair (GO:0006289)|reciprocal meiotic recombination (GO:0007131)|spermatogenesis (GO:0007283)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA ligase (ATP) activity (GO:0003910)|DNA ligase activity (GO:0003909)|zinc ion binding (GO:0008270)			endometrium(4)|large_intestine(8)|lung(9)|ovary(3)|pancreas(2)|prostate(1)|skin(3)|stomach(1)	31		Ovarian(249;0.17)			Bleomycin(DB00290)	CGGAAAGGCTCAGCAGGAGGT	0.552								Other BER factors																														uc002hik.1		NA																	0				skin(3)|lung(2)|ovary(2)|large_intestine(1)|pancreas(1)	9						c.(880-882)TCA>TTA	Other_BER_factors	ligase III, DNA, ATP-dependent isoform alpha	Bleomycin(DB00290)						117.0	99.0	105.0					17																	33316674		2203	4300	6503	SO:0001583	missense	3980				base-excision repair|cell division|DNA ligation involved in DNA repair|DNA replication|reciprocal meiotic recombination|spermatogenesis	nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|protein binding|zinc ion binding	g.chr17:33316674C>T		CCDS11284.2, CCDS11285.2	17q11.2-q12	2008-10-29			ENSG00000005156	ENSG00000005156			6600	protein-coding gene	gene with protein product		600940	"""ligase II, DNA, ATP-dependent"""	LIG2		7760816	Standard	NM_002311		Approved		uc002hik.2	P49916	OTTHUMG00000128519	ENST00000378526.4:c.881C>T	17.37:g.33316674C>T	ENSP00000367787:p.Ser294Leu					LIG3_uc002hii.2_Missense_Mutation_p.S294L|LIG3_uc002hij.2_Missense_Mutation_p.S294L|LIG3_uc010cth.1_Missense_Mutation_p.S303L	p.S294L	NM_013975	NP_039269	P49916	DNLI3_HUMAN			4	989	+		Ovarian(249;0.17)	294					Q16714|Q6NVK3	Missense_Mutation	SNP	ENST00000378526.4	37	c.881C>T	CCDS11284.2	.	.	.	.	.	.	.	.	.	.	C	23.6	4.432485	0.83776	.	.	ENSG00000005156	ENST00000378526;ENST00000262327	T;T	0.17370	2.28;2.28	5.63	5.63	0.86233	DNA ligase, ATP-dependent, N-terminal (3);	0.501606	0.20170	N	0.097754	T	0.35248	0.0925	M	0.74881	2.28	0.42385	D	0.992506	P;P;P;D	0.55800	0.891;0.891;0.891;0.973	P;P;P;P	0.55871	0.507;0.507;0.643;0.786	T	0.03473	-1.1033	10	0.21014	T	0.42	-4.9404	15.8533	0.78952	0.0:0.8647:0.1353:0.0	.	294;294;294;294	E5KLB5;P49916;E5KLB6;Q96DF0	.;DNLI3_HUMAN;.;.	L	294	ENSP00000367787:S294L;ENSP00000262327:S294L	ENSP00000262327:S294L	S	+	2	0	LIG3	30340787	1.000000	0.71417	0.976000	0.42696	0.991000	0.79684	4.766000	0.62279	2.652000	0.90054	0.655000	0.94253	TCA		0.552	LIG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250330.3	NM_013975		21	98	0	0	0	0	21	98				
PLXDC1	57125	broad.mit.edu	37	17	37264415	37264415	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr17:37264415C>T	ENST00000315392.4	-	5	764	c.553G>A	c.(553-555)Ggc>Agc	p.G185S	PLXDC1_ENST00000394316.2_Missense_Mutation_p.G185S|PLXDC1_ENST00000539608.1_Missense_Mutation_p.G112S|PLXDC1_ENST00000493200.1_5'UTR|PLXDC1_ENST00000444911.2_Missense_Mutation_p.G145S	NM_020405.4	NP_065138.2	Q8IUK5	PLDX1_HUMAN	plexin domain containing 1	185					angiogenesis (GO:0001525)|spinal cord development (GO:0021510)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|tight junction (GO:0005923)	receptor activity (GO:0004872)			kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						TCGGAGTAGCCAGGGTTGAAG	0.522																																						uc002hrg.2		NA																	0				ovary(1)|kidney(1)|skin(1)	3						c.(553-555)GGC>AGC		plexin domain containing 1 precursor							140.0	138.0	139.0					17																	37264415		2203	4300	6503	SO:0001583	missense	57125				angiogenesis	cytoplasm|extracellular region|integral to membrane|tight junction		g.chr17:37264415C>T	AF279144	CCDS11333.1	17q21.1	2006-04-12			ENSG00000161381	ENSG00000161381			20945	protein-coding gene	gene with protein product	"""tumor endothelial marker 7 precursor"""	606826				10947988, 11559528	Standard	NM_020405		Approved	TEM3, TEM7	uc002hrg.2	Q8IUK5	OTTHUMG00000133183	ENST00000315392.4:c.553G>A	17.37:g.37264415C>T	ENSP00000323927:p.Gly185Ser					uc002hrf.1_3'UTR|PLXDC1_uc002hrh.2_RNA|PLXDC1_uc002hri.2_RNA|PLXDC1_uc002hrj.1_RNA|PLXDC1_uc002hrk.1_RNA	p.G185S	NM_020405	NP_065138	Q8IUK5	PXDC1_HUMAN			5	765	-			185			Extracellular (Potential).		B2R7I8|Q5QCZ7|Q5QCZ8|Q5QCZ9|Q9HCT9	Missense_Mutation	SNP	ENST00000315392.4	37	c.553G>A	CCDS11333.1	.	.	.	.	.	.	.	.	.	.	C	15.40	2.822174	0.50739	.	.	ENSG00000161381	ENST00000315392;ENST00000394318;ENST00000539608;ENST00000444911;ENST00000394316;ENST00000441877;ENST00000415163	T;T;T;T;T;T	0.71698	-0.59;-0.59;-0.59;-0.59;-0.59;-0.59	5.7	3.73	0.42828	.	0.095441	0.64402	N	0.000001	T	0.38558	0.1045	N	0.10760	0.04	0.38093	D	0.937023	B	0.33857	0.429	B	0.28305	0.088	T	0.48433	-0.9036	10	0.02654	T	1	-33.2427	6.2242	0.20698	0.0:0.6821:0.0:0.3179	.	185	Q8IUK5	PXDC1_HUMAN	S	185;112;112;145;185;112;112	ENSP00000323927:G185S;ENSP00000441881:G112S;ENSP00000409687:G145S;ENSP00000377851:G185S;ENSP00000393227:G112S;ENSP00000416819:G112S	ENSP00000323927:G185S	G	-	1	0	PLXDC1	34517941	1.000000	0.71417	0.999000	0.59377	0.937000	0.57800	4.601000	0.61090	1.417000	0.47077	0.655000	0.94253	GGC		0.522	PLXDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256892.2	NM_020405		51	107	0	0	0	0	51	107				
MSL1	339287	broad.mit.edu	37	17	38285648	38285648	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr17:38285648G>C	ENST00000398532.4	+	3	1458	c.1143G>C	c.(1141-1143)ttG>ttC	p.L381F	MSL1_ENST00000578648.1_Missense_Mutation_p.L381F|MSL1_ENST00000577454.1_Missense_Mutation_p.L381F|MSL1_ENST00000579565.1_Missense_Mutation_p.L118F	NM_001012241.1	NP_001012241.1	Q68DK7	MSL1_HUMAN	male-specific lethal 1 homolog (Drosophila)	381					chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)	MSL complex (GO:0072487)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				endometrium(1)|kidney(2)|large_intestine(2)|lung(2)	7						AACGTGAATTGAGGAGCCAAG	0.473																																						uc002hub.2		NA																	0					0						c.(538-540)TTG>TTC		hampin							61.0	64.0	63.0					17																	38285648		1825	4083	5908	SO:0001583	missense	339287				histone H4-K16 acetylation	MSL complex		g.chr17:38285648G>C		CCDS45670.1	17q21.1	2011-03-21			ENSG00000188895	ENSG00000188895			27905	protein-coding gene	gene with protein product		614801				16227571, 16543150	Standard	NM_001012241		Approved	hMSL1, MSL-1, DKFZp686P24239	uc002hua.4	Q68DK7		ENST00000398532.4:c.1143G>C	17.37:g.38285648G>C	ENSP00000381543:p.Leu381Phe					MSL1_uc002hua.3_Missense_Mutation_p.L118F|MSL1_uc002huc.2_Missense_Mutation_p.L118F|MSL1_uc002hud.2_5'Flank	p.L180F	NM_001012241	NP_001012241	Q68DK7	MSL1_HUMAN			3	559	+			381					Q0VF46|Q69Z03	Missense_Mutation	SNP	ENST00000398532.4	37	c.540G>C		.	.	.	.	.	.	.	.	.	.	G	16.23	3.064665	0.55432	.	.	ENSG00000188895	ENST00000339569;ENST00000398532	.	.	.	5.82	5.82	0.92795	.	0.116343	0.51477	D	0.000082	T	0.73473	0.3591	L	0.38175	1.15	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	T	0.72997	-0.4121	9	0.52906	T	0.07	-12.4639	19.719	0.96135	0.0:0.0:1.0:0.0	.	381	Q68DK7	MSL1_HUMAN	F	118;381	.	ENSP00000341409:L118F	L	+	3	2	MSL1	35539174	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.336000	0.79245	2.756000	0.94617	0.563000	0.77884	TTG		0.473	MSL1-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000447409.2	NM_001012241		19	109	0	0	0	0	19	109				
TOP2A	7153	broad.mit.edu	37	17	38567942	38567942	+	Silent	SNP	T	T	C			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr17:38567942T>C	ENST00000423485.1	-	8	1076	c.918A>G	c.(916-918)aaA>aaG	p.K306K		NM_001067.3	NP_001058.2	P11388	TOP2A_HUMAN	topoisomerase (DNA) II alpha 170kDa	306					apoptotic chromosome condensation (GO:0030263)|ATP catabolic process (GO:0006200)|cellular response to DNA damage stimulus (GO:0006974)|chromosome segregation (GO:0007059)|DNA ligation (GO:0006266)|DNA topological change (GO:0006265)|DNA unwinding involved in DNA replication (GO:0006268)|embryonic cleavage (GO:0040016)|hematopoietic progenitor cell differentiation (GO:0002244)|mitotic cell cycle (GO:0000278)|mitotic DNA integrity checkpoint (GO:0044774)|mitotic recombination (GO:0006312)|positive regulation of apoptotic process (GO:0043065)|positive regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045870)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral genome replication (GO:0045070)|resolution of meiotic recombination intermediates (GO:0000712)|sister chromatid segregation (GO:0000819)	condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|DNA topoisomerase complex (ATP-hydrolyzing) (GO:0009330)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|DNA topoisomerase type II (ATP-hydrolyzing) activity (GO:0003918)|DNA-dependent ATPase activity (GO:0008094)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|magnesium ion binding (GO:0000287)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase C binding (GO:0005080)|ubiquitin binding (GO:0043130)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(9)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	39		Breast(137;0.00328)	STAD - Stomach adenocarcinoma(5;0.00183)		Amsacrine(DB00276)|Ciprofloxacin(DB00537)|Dactinomycin(DB00970)|Daunorubicin(DB00694)|Dexrazoxane(DB00380)|Doxorubicin(DB00997)|Enoxacin(DB00467)|Epirubicin(DB00445)|Etoposide(DB00773)|Fleroxacin(DB04576)|Idarubicin(DB01177)|Levofloxacin(DB01137)|Lomefloxacin(DB00978)|Lucanthone(DB04967)|Mitoxantrone(DB01204)|Moxifloxacin(DB00218)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Pefloxacin(DB00487)|Podofilox(DB01179)|Sparfloxacin(DB01208)|Teniposide(DB00444)|Trovafloxacin(DB00685)|Valrubicin(DB00385)	GCTGAAAGCCTTTTTCACTCA	0.318																																						uc002huq.2		NA																	0				ovary(4)|large_intestine(1)|central_nervous_system(1)|skin(1)	7						c.(916-918)AAA>AAG		DNA topoisomerase II, alpha isozyme	Amsacrine(DB00276)|Ciprofloxacin(DB00537)|Dexrazoxane(DB00380)|Doxorubicin(DB00997)|Enoxacin(DB00467)|Epirubicin(DB00445)|Etoposide(DB00773)|Fleroxacin(DB04576)|Gatifloxacin(DB01044)|Idarubicin(DB01177)|Levofloxacin(DB01137)|Lomefloxacin(DB00978)|Lucanthone(DB04967)|Mitoxantrone(DB01204)|Moxifloxacin(DB00218)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Pefloxacin(DB00487)|Podofilox(DB01179)|Sparfloxacin(DB01208)|Teniposide(DB00444)|Trovafloxacin(DB00685)|Valrubicin(DB00385)						117.0	108.0	111.0					17																	38567942		1845	4088	5933	SO:0001819	synonymous_variant	7153				apoptotic chromosome condensation|DNA ligation|DNA repair|DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|phosphatidylinositol-mediated signaling|positive regulation of apoptosis|positive regulation of retroviral genome replication|resolution of meiotic recombination intermediates|sister chromatid segregation	cytoplasm|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex	ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|drug binding|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein homodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity|ubiquitin binding	g.chr17:38567942T>C		CCDS45672.1	17q21-q22	2008-08-06	2002-08-29		ENSG00000131747	ENSG00000131747	5.99.1.2		11989	protein-coding gene	gene with protein product		126430	"""topoisomerase (DNA) II alpha (170kD)"""	TOP2			Standard	NM_001067		Approved		uc002huq.3	P11388	OTTHUMG00000155008	ENST00000423485.1:c.918A>G	17.37:g.38567942T>C						TOP2A_uc002hur.1_5'Flank	p.K306K	NM_001067	NP_001058	P11388	TOP2A_HUMAN	STAD - Stomach adenocarcinoma(5;0.00183)		8	1044	-		Breast(137;0.00328)	306					B2RTS1|Q71UN1|Q71UQ5|Q9HB24|Q9HB25|Q9HB26|Q9UP44|Q9UQP9	Silent	SNP	ENST00000423485.1	37	c.918A>G	CCDS45672.1																																																																																				0.318	TOP2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338035.1			3	93	0	0	0	0	3	93				
DHX8	1659	broad.mit.edu	37	17	41599574	41599574	+	Silent	SNP	C	C	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr17:41599574C>T	ENST00000262415.3	+	22	3495	c.3423C>T	c.(3421-3423)ctC>ctT	p.L1141L	DHX8_ENST00000540306.1_Silent_p.L1141L	NM_004941.1	NP_004932.1	Q14562	DHX8_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 8	1141					ATP catabolic process (GO:0006200)|mRNA splicing, via spliceosome (GO:0000398)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.08)		CCAGTGCCCTCTTCAACAGAC	0.512																																					NSCLC(56;1548 1661 49258 49987)	uc002idu.1		NA																	0				ovary(2)|kidney(1)|pancreas(1)	4						c.(3421-3423)CTC>CTT		DEAH (Asp-Glu-Ala-His) box polypeptide 8							83.0	72.0	76.0					17																	41599574		2203	4300	6503	SO:0001819	synonymous_variant	1659					catalytic step 2 spliceosome	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding	g.chr17:41599574C>T	D50487	CCDS11464.1	17q21.31	2005-08-19	2003-06-13	2003-06-20		ENSG00000067596		"""DEAH-boxes"""	2749	protein-coding gene	gene with protein product		600396	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 8 (RNA helicase)"""	DDX8		7935475	Standard	NM_004941		Approved	HRH1, PRP22, PRPF22	uc002idu.1	Q14562		ENST00000262415.3:c.3423C>T	17.37:g.41599574C>T						DHX8_uc010wig.1_Silent_p.L1141L	p.L1141L	NM_004941	NP_004932	Q14562	DHX8_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.08)	22	3496	+		Breast(137;0.00908)	1141						Silent	SNP	ENST00000262415.3	37	c.3423C>T	CCDS11464.1																																																																																				0.512	DHX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453485.1			14	57	0	0	0	0	14	57				
PLEKHM1	9842	broad.mit.edu	37	17	43517535	43517535	+	Silent	SNP	G	G	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr17:43517535G>A	ENST00000430334.3	-	10	3028	c.2895C>T	c.(2893-2895)ctC>ctT	p.L965L	PLEKHM1_ENST00000421073.2_Silent_p.L876L|PLEKHM1_ENST00000580404.1_5'UTR	NM_014798.2	NP_055613.1	Q9Y4G2	PKHM1_HUMAN	pleckstrin homology domain containing, family M (with RUN domain) member 1	965					intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(6)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26	Renal(3;0.0405)					TTACCTGTTGGAGGTCAGCAA	0.473																																						uc002ija.2		NA																	0					0						c.(2893-2895)CTC>CTT		pleckstrin homology domain containing, family M							79.0	75.0	76.0					17																	43517535		2203	4300	6503	SO:0001819	synonymous_variant	9842				intracellular signal transduction	cytoplasm	metal ion binding	g.chr17:43517535G>A	X85792	CCDS32671.1	17q21.31	2013-01-11				ENSG00000225190		"""Pleckstrin homology (PH) domain containing"""	29017	protein-coding gene	gene with protein product		611466				9205841, 12820725	Standard	NM_014798		Approved	KIAA0356	uc002ija.3	Q9Y4G2		ENST00000430334.3:c.2895C>T	17.37:g.43517535G>A						PLEKHM1_uc010wjm.1_Silent_p.L937L|PLEKHM1_uc002ijb.2_Silent_p.L440L|PLEKHM1_uc010wjn.1_Silent_p.L914L	p.L965L	NM_014798	NP_055613	Q9Y4G2	PKHM1_HUMAN			10	3065	-	Renal(3;0.0405)		965					Q6P2R5|Q8TEL9|Q9NPP5|Q9NYA0	Silent	SNP	ENST00000430334.3	37	c.2895C>T	CCDS32671.1																																																																																				0.473	PLEKHM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444659.1	NM_014798		16	105	0	0	0	0	16	105				
LPO	4025	broad.mit.edu	37	17	56342211	56342211	+	Silent	SNP	C	C	G			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr17:56342211C>G	ENST00000262290.4	+	10	1711	c.1395C>G	c.(1393-1395)cgC>cgG	p.R465R	LPO_ENST00000421678.2_Silent_p.R382R|LPO_ENST00000582328.1_Silent_p.R382R|LPO_ENST00000543544.1_Silent_p.R406R	NM_006151.2	NP_006142.1	P22079	PERL_HUMAN	lactoperoxidase	465					defense response to bacterium (GO:0042742)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|hydrogen peroxide catabolic process (GO:0042744)|response to oxidative stress (GO:0006979)|thiocyanate metabolic process (GO:0018969)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heme binding (GO:0020037)|metal ion binding (GO:0046872)|thiocyanate peroxidase activity (GO:0036393)			breast(5)|cervix(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30						TCGCCTTCCGCTTTGGCCACT	0.517																																						uc002ivt.2		NA																	0				ovary(1)|breast(1)	2						c.(1393-1395)CGC>CGG		lactoperoxidase isoform 1 preproprotein							101.0	89.0	93.0					17																	56342211		2203	4300	6503	SO:0001819	synonymous_variant	4025				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity	g.chr17:56342211C>G	M58151	CCDS32689.1, CCDS54149.1	17q23.1	2008-02-05				ENSG00000167419	1.11.1.7		6678	protein-coding gene	gene with protein product		150205				2222811, 8964511	Standard	NM_006151		Approved	SPO	uc002ivt.3	P22079		ENST00000262290.4:c.1395C>G	17.37:g.56342211C>G						LPO_uc010wns.1_Silent_p.R406R|LPO_uc010dcp.2_Silent_p.R382R|LPO_uc010dcq.2_Silent_p.R136R|LPO_uc010dcr.2_Silent_p.R28R	p.R465R	NM_006151	NP_006142	P22079	PERL_HUMAN			10	1711	+			465					A5JUY4|E7EMJ3|Q13408|Q3KNQ2	Silent	SNP	ENST00000262290.4	37	c.1395C>G	CCDS32689.1																																																																																				0.517	LPO-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000443961.1			15	103	0	0	0	0	15	103				
RNF43	54894	broad.mit.edu	37	17	56440747	56440747	+	Silent	SNP	C	C	T	rs532357871		TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr17:56440747C>T	ENST00000584437.1	-	4	2426	c.471G>A	c.(469-471)ctG>ctA	p.L157L	RNF43_ENST00000407977.2_Silent_p.L157L|RNF43_ENST00000577625.1_Silent_p.L30L|RNF43_ENST00000583753.1_Silent_p.L116L|RNF43_ENST00000581868.1_Silent_p.L30L|RNF43_ENST00000500597.2_Silent_p.L116L|RNF43_ENST00000577716.1_Silent_p.L157L|BZRAP1-AS1_ENST00000583841.1_RNA			Q68DV7	RNF43_HUMAN	ring finger protein 43	157					negative regulation of Wnt signaling pathway (GO:0030178)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|stem cell proliferation (GO:0072089)|Wnt receptor catabolic process (GO:0038018)|Wnt signaling pathway (GO:0016055)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)	frizzled binding (GO:0005109)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CTGGCCAGGTCAGCCCCAGCG	0.567																																						uc002iwf.2		NA																	0				ovary(1)	1						c.(469-471)CTG>CTA		ring finger protein 43 precursor							105.0	108.0	107.0					17																	56440747		2203	4300	6503	SO:0001819	synonymous_variant	54894					endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding	g.chr17:56440747C>T		CCDS11607.1	17q23.2	2013-01-09						"""RING-type (C3HC4) zinc fingers"""	18505	protein-coding gene	gene with protein product		612482					Standard	NM_017763		Approved	FLJ20315, DKFZp781H0392, URCC	uc002iwh.4	Q68DV7		ENST00000584437.1:c.471G>A	17.37:g.56440747C>T						RNF43_uc010wnv.1_Silent_p.L116L|RNF43_uc002iwh.3_Silent_p.L157L|RNF43_uc002iwg.3_Silent_p.L157L|RNF43_uc010dcw.2_Silent_p.L30L	p.L157L	NM_017763	NP_060233	Q68DV7	RNF43_HUMAN			4	2427	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		157			Extracellular (Potential).		A8K4R2|B7Z443|B7Z5D5|B7Z5J5|Q65ZA4|Q6AI04|Q9NXD0	Silent	SNP	ENST00000584437.1	37	c.471G>A	CCDS11607.1																																																																																				0.567	RNF43-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444713.1	NM_017763		17	165	0	0	0	0	17	165				
KPNA2	3838	broad.mit.edu	37	17	66033573	66033573	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr17:66033573G>A	ENST00000537025.2	+	3	795	c.175G>A	c.(175-177)Gat>Aat	p.D59N	KPNA2_ENST00000330459.3_Missense_Mutation_p.D59N			P52292	IMA1_HUMAN	karyopherin alpha 2 (RAG cohort 1, importin alpha 1)	59	IBB. {ECO:0000255|PROSITE- ProRule:PRU00561}.				cytokine-mediated signaling pathway (GO:0019221)|DNA metabolic process (GO:0006259)|NLS-bearing protein import into nucleus (GO:0006607)|regulation of DNA recombination (GO:0000018)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	histone deacetylase binding (GO:0042826)|nuclear localization sequence binding (GO:0008139)|poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|kidney(2)|lung(9)|prostate(1)|urinary_tract(2)	22	all_cancers(12;1.18e-09)		BRCA - Breast invasive adenocarcinoma(8;1.03e-07)|LUSC - Lung squamous cell carcinoma(166;0.24)			ATTTCCTGATGATGCTACTTC	0.423																																						uc002jgk.2		NA																	0				central_nervous_system(2)	2						c.(175-177)GAT>AAT		karyopherin alpha 2							98.0	88.0	92.0					17																	66033573		2203	4296	6499	SO:0001583	missense	3838				DNA metabolic process|G2 phase of mitotic cell cycle|interspecies interaction between organisms|M phase specific microtubule process|NLS-bearing substrate import into nucleus|regulation of DNA recombination	cytoplasm|nuclear pore|nucleoplasm	histone deacetylase binding|nuclear localization sequence binding|protein transporter activity	g.chr17:66033573G>A	U09559	CCDS32713.1	17q24.2	2013-02-14						"""Importins"", ""Armadillo repeat containing"""	6395	protein-coding gene	gene with protein product		600685		RCH1		8016130, 7754385	Standard	NM_002266		Approved	SRP1alpha, IPOA1, QIP2	uc002jgk.3	P52292		ENST00000537025.2:c.175G>A	17.37:g.66033573G>A	ENSP00000438483:p.Asp59Asn					KPNA2_uc002jgl.2_Missense_Mutation_p.D59N	p.D59N	NM_002266	NP_002257	P52292	IMA2_HUMAN	BRCA - Breast invasive adenocarcinoma(8;1.03e-07)|LUSC - Lung squamous cell carcinoma(166;0.24)		3	307	+	all_cancers(12;1.18e-09)		59			IBB.		B9EJD6|Q53YE3|Q9BRU5	Missense_Mutation	SNP	ENST00000537025.2	37	c.175G>A	CCDS32713.1	.	.	.	.	.	.	.	.	.	.	G	19.07	3.755464	0.69648	.	.	ENSG00000182481	ENST00000330459;ENST00000537025	T;T	0.48522	0.81;0.81	4.28	4.28	0.50868	Importin-alpha, importin-beta-binding domain (2);Armadillo-like helical (1);Armadillo-type fold (1);	0.070231	0.56097	U	0.000026	T	0.43612	0.1255	L	0.48642	1.525	0.58432	D	0.999999	B	0.10296	0.003	B	0.23852	0.049	T	0.32640	-0.9899	9	.	.	.	.	16.7038	0.85366	0.0:0.0:1.0:0.0	.	59	P52292	IMA2_HUMAN	N	59	ENSP00000332455:D59N;ENSP00000438483:D59N	.	D	+	1	0	KPNA2	63464035	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	9.666000	0.98612	1.938000	0.56188	0.305000	0.20034	GAT		0.423	KPNA2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448111.1	NM_002266		65	78	0	0	0	0	65	78				
ABCA10	10349	broad.mit.edu	37	17	67150091	67150091	+	Silent	SNP	G	G	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr17:67150091G>A	ENST00000269081.4	-	33	4755	c.3846C>T	c.(3844-3846)ttC>ttT	p.F1282F	ABCA10_ENST00000519732.1_5'UTR|ABCA10_ENST00000416101.2_3'UTR	NM_080282.3	NP_525021.3	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 10	1282	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					AGTACCCCAAGAACTTGAGGC	0.478																																						uc010dfa.1		NA																	0				ovary(2)|central_nervous_system(1)|skin(1)	4						c.(3844-3846)TTC>TTT		ATP-binding cassette, sub-family A, member 10							124.0	106.0	112.0					17																	67150091		2203	4300	6503	SO:0001819	synonymous_variant	10349				transport	integral to membrane	ATP binding|ATPase activity	g.chr17:67150091G>A	AY247065	CCDS11684.1	17q24	2012-03-14			ENSG00000154263	ENSG00000154263		"""ATP binding cassette transporters / subfamily A"""	30	protein-coding gene	gene with protein product		612508				12821155, 11435397	Standard	NM_080282		Approved	EST698739	uc010dfa.1	Q8WWZ4	OTTHUMG00000164716	ENST00000269081.4:c.3846C>T	17.37:g.67150091G>A						ABCA10_uc010wqs.1_Silent_p.F274F|ABCA10_uc010wqt.1_RNA	p.F1282F	NM_080282	NP_525021	Q8WWZ4	ABCAA_HUMAN			33	4725	-	Breast(10;6.95e-12)		1282			ABC transporter 2.		C9JZH2|C9K035|Q6PIQ6|Q7Z2I9|Q7Z7P7|Q86TD2	Silent	SNP	ENST00000269081.4	37	c.3846C>T	CCDS11684.1																																																																																				0.478	ABCA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379881.4	NM_080282		27	124	0	0	0	0	27	124				
FAM104A	84923	broad.mit.edu	37	17	71228289	71228289	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr17:71228289G>A	ENST00000403627.3	-	1	217	c.157C>T	c.(157-159)Ctt>Ttt	p.L53F	C17orf80_ENST00000577615.1_5'Flank|C17orf80_ENST00000582793.1_5'Flank|C17orf80_ENST00000535032.2_5'Flank|C17orf80_ENST00000268942.8_5'Flank|FAM104A_ENST00000583178.1_Intron|C17orf80_ENST00000255557.4_5'Flank|FAM104A_ENST00000583024.1_Missense_Mutation_p.L53F|FAM104A_ENST00000581110.1_Missense_Mutation_p.L53F|C17orf80_ENST00000359042.2_5'Flank|C17orf80_ENST00000426147.2_5'Flank|FAM104A_ENST00000405159.3_Missense_Mutation_p.L53F	NM_032837.2	NP_116226.2	Q969W3	F104A_HUMAN	family with sequence similarity 104, member A	53										endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6			LUSC - Lung squamous cell carcinoma(166;0.197)			GCTCCGCGAAGAGAGGGAACA	0.701																																						uc002jji.3		NA																	0					0						c.(157-159)CTT>TTT		hypothetical protein LOC84923 isoform 2							18.0	21.0	20.0					17																	71228289		2200	4297	6497	SO:0001583	missense	84923							g.chr17:71228289G>A	AK027681	CCDS11693.2, CCDS45766.1, CCDS74143.1, CCDS74144.1	17q25.1	2005-12-16			ENSG00000133193	ENSG00000133193			25918	protein-coding gene	gene with protein product							Standard	NM_032837		Approved	FLJ14775	uc002jjj.4	Q969W3	OTTHUMG00000150564	ENST00000403627.3:c.157C>T	17.37:g.71228289G>A	ENSP00000384648:p.Leu53Phe					FAM104A_uc002jjj.3_Missense_Mutation_p.L53F|C17orf80_uc010wqu.1_5'Flank|C17orf80_uc010dfj.2_5'Flank|C17orf80_uc002jjk.1_5'Flank|C17orf80_uc002jjm.3_5'Flank|C17orf80_uc002jjl.3_5'Flank	p.L53F	NM_032837	NP_116226	Q969W3	F104A_HUMAN	LUSC - Lung squamous cell carcinoma(166;0.197)		1	245	-			53					B4E339	Missense_Mutation	SNP	ENST00000403627.3	37	c.157C>T	CCDS11693.2	.	.	.	.	.	.	.	.	.	.	G	6.169	0.399361	0.11696	.	.	ENSG00000133193	ENST00000403627;ENST00000405159	T;T	0.45668	0.89;0.89	4.41	-8.11	0.01082	.	.	.	.	.	T	0.18299	0.0439	N	0.08118	0	0.09310	N	1	B;B	0.17268	0.021;0.021	B;B	0.21917	0.037;0.037	T	0.31530	-0.9940	9	0.45353	T	0.12	.	6.7727	0.23602	0.1632:0.1251:0.5882:0.1235	.	53;53	Q969W3-2;Q969W3	.;F104A_HUMAN	F	53	ENSP00000384648:L53F;ENSP00000384832:L53F	ENSP00000384648:L53F	L	-	1	0	FAM104A	68739884	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-1.069000	0.03444	-1.687000	0.01437	-2.095000	0.00367	CTT		0.701	FAM104A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318935.1	NM_032837		4	32	0	0	0	0	4	32				
CD300A	11314	broad.mit.edu	37	17	72469964	72469964	+	Silent	SNP	C	C	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr17:72469964C>T	ENST00000360141.3	+	2	618	c.330C>T	c.(328-330)ctC>ctT	p.L110L	CD300A_ENST00000392625.3_Intron|CD300A_ENST00000577511.1_5'UTR|CD300A_ENST00000310828.5_Intron|CD300A_ENST00000361933.3_Intron	NM_001256841.1|NM_007261.3	NP_001243770.1|NP_009192.2	Q9UGN4	CLM8_HUMAN	CD300a molecule	110	Ig-like V-type.				cell adhesion (GO:0007155)|immune system process (GO:0002376)|negative regulation of activation of JAK2 kinase activity (GO:1902569)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of B cell receptor signaling pathway (GO:0050859)|negative regulation of eosinophil activation (GO:1902567)|negative regulation of eosinophil migration (GO:2000417)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of mast cell activation involved in immune response (GO:0033007)|negative regulation of mast cell degranulation (GO:0043305)|negative regulation of neutrophil activation (GO:1902564)|negative regulation of NK T cell activation (GO:0051134)|negative regulation of phagocytosis, engulfment (GO:0060101)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|regulation of T cell receptor signaling pathway (GO:0050856)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	phosphatidylethanolamine binding (GO:0008429)|phosphatidylserine binding (GO:0001786)|signaling receptor activity (GO:0038023)			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(4)|urinary_tract(1)	16						CACCATGGCTCCGAGACTTTC	0.562																																						uc002jkv.2		NA																	0				ovary(1)|skin(1)	2						c.(328-330)CTC>CTT		leukocyte membrane antigen							127.0	134.0	132.0					17																	72469964		2203	4300	6503	SO:0001819	synonymous_variant	11314				cell adhesion	integral to membrane|plasma membrane	receptor activity	g.chr17:72469964C>T	BC032352	CCDS32720.1, CCDS58590.1	17q25.2	2013-01-11	2006-03-28		ENSG00000167851	ENSG00000167851		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	19319	protein-coding gene	gene with protein product		606790	"""CD300a antigen"""			9701027, 10746781	Standard	NM_007261		Approved	Irp60, CMRF35H, CMRF-35-H9, IRC1, IRC2, IGSF12	uc002jkv.4	Q9UGN4	OTTHUMG00000067612	ENST00000360141.3:c.330C>T	17.37:g.72469964C>T						CD300A_uc002jkw.2_Intron|CD300A_uc010dfr.2_Intron|CD300A_uc010dfs.2_Intron	p.L110L	NM_007261	NP_009192	Q9UGN4	CLM8_HUMAN			2	651	+			110			Extracellular (Potential).|Ig-like V-type.		A8MW96|O95100|Q9HD97|Q9P0F3|Q9UBK4|Q9UMS9|Q9UMT0	Silent	SNP	ENST00000360141.3	37	c.330C>T	CCDS32720.1																																																																																				0.562	CD300A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000145091.1	NM_007261		12	109	0	0	0	0	12	109				
GALR2	8811	broad.mit.edu	37	17	74071153	74071153	+	Silent	SNP	C	C	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr17:74071153C>T	ENST00000329003.3	+	1	279	c.189C>T	c.(187-189)ttC>ttT	p.F63F	SRP68_ENST00000355113.5_5'Flank|SRP68_ENST00000307877.2_5'Flank|SRP68_ENST00000539137.1_5'Flank	NM_003857.2	NP_003848.1	O43603	GALR2_HUMAN	galanin receptor 2	63					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cell surface receptor signaling pathway (GO:0007166)|digestion (GO:0007586)|feeding behavior (GO:0007631)|learning or memory (GO:0007611)|multicellular organismal development (GO:0007275)|muscle contraction (GO:0006936)|negative regulation of adenylate cyclase activity (GO:0007194)|neuron projection development (GO:0031175)|neuropeptide signaling pathway (GO:0007218)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of large conductance calcium-activated potassium channel activity (GO:1902608)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	galanin receptor activity (GO:0004966)|peptide hormone binding (GO:0017046)			cervix(1)|lung(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	8						CCAACCTGTTCATCCTTAACC	0.652																																						uc002jqm.1		NA																	0					0						c.(187-189)TTC>TTT		galanin receptor 2							145.0	88.0	107.0					17																	74071153		2203	4300	6503	SO:0001819	synonymous_variant	8811				digestion|elevation of cytosolic calcium ion concentration|feeding behavior|learning or memory|muscle contraction	integral to membrane|plasma membrane	galanin receptor activity	g.chr17:74071153C>T	AF040630	CCDS11739.1	17q25.3	2012-08-08			ENSG00000182687	ENSG00000182687		"""GPCR / Class A : Galanin receptors"""	4133	protein-coding gene	gene with protein product		603691				9685625, 9832121	Standard	NM_003857		Approved	GALNR2	uc002jqm.1	O43603	OTTHUMG00000167479	ENST00000329003.3:c.189C>T	17.37:g.74071153C>T						SRP68_uc010wsu.1_5'Flank|SRP68_uc002jqk.1_5'Flank|SRP68_uc002jql.1_5'Flank	p.F63F	NM_003857	NP_003848	O43603	GALR2_HUMAN			1	270	+			63			Helical; Name=2; (Potential).		A5JUU4|Q32MN8	Silent	SNP	ENST00000329003.3	37	c.189C>T	CCDS11739.1																																																																																				0.652	GALR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394760.1			11	70	0	0	0	0	11	70				
GALR2	8811	broad.mit.edu	37	17	74071276	74071276	+	Silent	SNP	C	C	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr17:74071276C>T	ENST00000329003.3	+	1	402	c.312C>T	c.(310-312)ctC>ctT	p.L104L	SRP68_ENST00000355113.5_5'Flank|SRP68_ENST00000307877.2_5'Flank|SRP68_ENST00000539137.1_5'Flank	NM_003857.2	NP_003848.1	O43603	GALR2_HUMAN	galanin receptor 2	104					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cell surface receptor signaling pathway (GO:0007166)|digestion (GO:0007586)|feeding behavior (GO:0007631)|learning or memory (GO:0007611)|multicellular organismal development (GO:0007275)|muscle contraction (GO:0006936)|negative regulation of adenylate cyclase activity (GO:0007194)|neuron projection development (GO:0031175)|neuropeptide signaling pathway (GO:0007218)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of large conductance calcium-activated potassium channel activity (GO:1902608)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	galanin receptor activity (GO:0004966)|peptide hormone binding (GO:0017046)			cervix(1)|lung(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	8						TGCACTTCCTCATCTTCCTCA	0.647																																						uc002jqm.1		NA																	0					0						c.(310-312)CTC>CTT		galanin receptor 2							91.0	66.0	74.0					17																	74071276		2203	4300	6503	SO:0001819	synonymous_variant	8811				digestion|elevation of cytosolic calcium ion concentration|feeding behavior|learning or memory|muscle contraction	integral to membrane|plasma membrane	galanin receptor activity	g.chr17:74071276C>T	AF040630	CCDS11739.1	17q25.3	2012-08-08			ENSG00000182687	ENSG00000182687		"""GPCR / Class A : Galanin receptors"""	4133	protein-coding gene	gene with protein product		603691				9685625, 9832121	Standard	NM_003857		Approved	GALNR2	uc002jqm.1	O43603	OTTHUMG00000167479	ENST00000329003.3:c.312C>T	17.37:g.74071276C>T						SRP68_uc010wsu.1_5'Flank|SRP68_uc002jqk.1_5'Flank|SRP68_uc002jql.1_5'Flank	p.L104L	NM_003857	NP_003848	O43603	GALR2_HUMAN			1	393	+			104			Helical; Name=3; (Potential).		A5JUU4|Q32MN8	Silent	SNP	ENST00000329003.3	37	c.312C>T	CCDS11739.1																																																																																				0.647	GALR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394760.1			14	70	0	0	0	0	14	70				
ZACN	353174	broad.mit.edu	37	17	74077658	74077658	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr17:74077658C>G	ENST00000334586.5	+	7	785	c.702C>G	c.(700-702)atC>atG	p.I234M	EXOC7_ENST00000589210.1_3'UTR|EXOC7_ENST00000591724.1_Intron|EXOC7_ENST00000332065.5_3'UTR|EXOC7_ENST00000607838.1_3'UTR	NM_180990.3	NP_851321.2	Q401N2	ZACN_HUMAN	zinc activated ligand-gated ion channel	234	Leu-rich.				ion transmembrane transport (GO:0034220)|response to zinc ion (GO:0010043)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	extracellular ligand-gated ion channel activity (GO:0005230)|ligand-gated ion channel activity (GO:0015276)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	11						TCAAGTCCATCATCGCTCTCT	0.642																																						uc002jqn.2		NA																	0					0						c.(700-702)ATC>ATG		zinc activated ligand-gated ion channel							105.0	99.0	101.0					17																	74077658		2203	4300	6503	SO:0001583	missense	353174				response to zinc ion	integral to membrane|membrane fraction|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity	g.chr17:74077658C>G	AK122638	CCDS11740.2	17q25.3	2012-01-18	2008-04-17	2008-04-17	ENSG00000186919	ENSG00000186919		"""Ligand-gated ion channels / Zinc activated channels"""	29504	protein-coding gene	gene with protein product		610935	"""ligand-gated ion channel, zinc activated 1"""	LGICZ1		12381728, 16083862	Standard	NM_180990		Approved	LGICZ, L2, ZAC, ZAC1	uc002jqn.2	Q401N2	OTTHUMG00000157186	ENST00000334586.5:c.702C>G	17.37:g.74077658C>G	ENSP00000334854:p.Ile234Met					ZACN_uc002jqo.2_RNA|ZACN_uc010dgu.2_Intron|EXOC7_uc002jqp.1_3'UTR|EXOC7_uc010dgv.1_3'UTR|EXOC7_uc002jqs.2_3'UTR|EXOC7_uc002jqq.2_3'UTR|EXOC7_uc010wsw.1_3'UTR|EXOC7_uc010wsx.1_3'UTR|EXOC7_uc002jqr.2_3'UTR|EXOC7_uc010wsv.1_3'UTR	p.I234M	NM_180990	NP_851321	Q401N2	ZACN_HUMAN			7	785	+			234			Leu-rich.|Helical; Name=1; (Potential).		Q2TB29|Q6ZWK3|Q86YW4	Missense_Mutation	SNP	ENST00000334586.5	37	c.702C>G	CCDS11740.2	.	.	.	.	.	.	.	.	.	.	c	15.47	2.844521	0.51164	.	.	ENSG00000186919	ENST00000334586	D	0.83419	-1.72	4.83	3.79	0.43588	Neurotransmitter-gated ion-channel transmembrane domain (1);	0.416909	0.22366	N	0.061012	T	0.79587	0.4471	N	0.19112	0.55	0.21220	N	0.999757	D	0.61697	0.99	P	0.56865	0.808	T	0.70146	-0.4952	10	0.59425	D	0.04	-20.759	9.6505	0.39895	0.277:0.723:0.0:0.0	.	234	Q401N2	ZACN_HUMAN	M	234	ENSP00000334854:I234M	ENSP00000334854:I234M	I	+	3	3	ZACN	71589253	0.001000	0.12720	0.263000	0.24496	0.714000	0.41099	0.656000	0.24948	2.526000	0.85167	0.500000	0.49745	ATC		0.642	ZACN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347827.2	NM_180990		4	175	0	0	0	0	4	175				
RHBDF2	79651	broad.mit.edu	37	17	74475233	74475233	+	Silent	SNP	C	C	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr17:74475233C>T	ENST00000313080.4	-	5	759	c.486G>A	c.(484-486)ctG>ctA	p.L162L	RHBDF2_ENST00000592378.1_5'UTR|RHBDF2_ENST00000591885.1_Silent_p.L133L|RHBDF2_ENST00000389760.4_Silent_p.L133L	NM_024599.5	NP_078875.4	Q6PJF5	RHDF2_HUMAN	rhomboid 5 homolog 2 (Drosophila)	162					negative regulation of protein secretion (GO:0050709)|protein transport (GO:0015031)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(4)|skin(1)	27						TGGGGAGCTCCAGGTCACGCT	0.692																																						uc002jrq.1		NA																	0					0						c.(484-486)CTG>CTA		rhomboid, veinlet-like 6 isoform 1							49.0	58.0	55.0					17																	74475233		2202	4299	6501	SO:0001819	synonymous_variant	79651				negative regulation of protein secretion|protein transport|proteolysis	endoplasmic reticulum membrane|integral to membrane	growth factor binding|serine-type endopeptidase activity	g.chr17:74475233C>T	BC016034	CCDS32743.1, CCDS32744.1	17q25.3	2014-09-17	2006-02-22	2006-02-22		ENSG00000129667			20788	protein-coding gene	gene with protein product		614404	"""rhomboid, veinlet-like 6 (Drosophila)"", ""tylosis with oesophageal cancer"""	RHBDL6, TOC		12838346, 22265016	Standard	NM_024599		Approved	FLJ22341, RHBDL5, TOCG	uc002jrq.2	Q6PJF5		ENST00000313080.4:c.486G>A	17.37:g.74475233C>T						RHBDF2_uc002jrp.1_Silent_p.L133L|RHBDF2_uc002jrr.1_Silent_p.L14L|RHBDF2_uc010wtf.1_Silent_p.L133L|RHBDF2_uc002jrs.1_Silent_p.L133L	p.L162L	NM_024599	NP_078875	Q6PJF5	RHDF2_HUMAN			5	779	-			162			Cytoplasmic (Potential).		A6NEM3|A8K801|Q5U607|Q5YGQ8|Q9H6E9	Silent	SNP	ENST00000313080.4	37	c.486G>A	CCDS32743.1																																																																																				0.692	RHBDF2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000450134.1	NM_024599		11	77	0	0	0	0	11	77				
SEPT9	10801	broad.mit.edu	37	17	75398526	75398526	+	Silent	SNP	C	C	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr17:75398526C>T	ENST00000427177.1	+	3	588	c.462C>T	c.(460-462)atC>atT	p.I154I	SEPT9_ENST00000585930.1_5'Flank|SEPT9_ENST00000329047.8_Silent_p.I136I|SEPT9_ENST00000431235.2_5'UTR|SEPT9_ENST00000449803.2_5'UTR|SEPT9_ENST00000590294.1_Silent_p.I136I|SEPT9_ENST00000423034.2_Silent_p.I147I|SEPT9_ENST00000588690.1_5'UTR|SEPT9_ENST00000591198.1_Silent_p.I135I|SEPT9_ENST00000592420.1_5'UTR|SEPT9_ENST00000427674.2_5'UTR	NM_001113491.1	NP_001106963.1	Q9UHD8	SEPT9_HUMAN	septin 9	154					cell cycle (GO:0007049)|cell division (GO:0051301)|GTP catabolic process (GO:0006184)|protein heterooligomerization (GO:0051291)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|perinuclear region of cytoplasm (GO:0048471)|stress fiber (GO:0001725)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(2)	16			BRCA - Breast invasive adenocarcinoma(99;0.153)			AGATCACCATCGTCAAACCCC	0.706																																						uc002jts.3		NA																	0				breast(2)|ovary(1)	3						c.(460-462)ATC>ATT		septin 9 isoform a							14.0	20.0	18.0					17																	75398526		2191	4282	6473	SO:0001819	synonymous_variant	10801				cell cycle|cell division|protein heterooligomerization	microtubule|perinuclear region of cytoplasm|stress fiber	GTP binding|GTPase activity|protein binding|protein binding	g.chr17:75398526C>T	AB023208	CCDS45790.1, CCDS45791.1, CCDS45792.1, CCDS45793.1, CCDS45794.1, CCDS45795.1, CCDS74166.1	17q25.3	2014-09-17	2005-01-11	2005-01-12	ENSG00000184640	ENSG00000184640		"""Septins"""	7323	protein-coding gene	gene with protein product	"""Ov/Br septin"""	604061	"""MLL septin-like fusion"""	MSF		10339604, 10485469	Standard	NM_006640		Approved	MSF1, KIAA0991, PNUTL4, AF17q25, SeptD1	uc002jts.4	Q9UHD8		ENST00000427177.1:c.462C>T	17.37:g.75398526C>T						SEPT9_uc010wtk.1_Silent_p.I135I|SEPT9_uc002jtt.3_5'UTR|SEPT9_uc002jtu.3_Silent_p.I136I|SEPT9_uc002jtv.2_Silent_p.I147I|SEPT9_uc002jtw.2_5'UTR|SEPT9_uc002jtx.1_5'UTR|SEPT9_uc010wtl.1_5'Flank	p.I154I	NM_001113491	NP_001106963	Q9UHD8	SEPT9_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.153)		3	588	+			154					A8K2V3|B3KPM0|B4DTL9|B4E0N2|B4E274|B7Z654|Q96QF3|Q96QF4|Q96QF5|Q9HA04|Q9UG40|Q9Y5W4	Silent	SNP	ENST00000427177.1	37	c.462C>T	CCDS45790.1																																																																																				0.706	SEPT9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000436304.2	NM_006640		8	13	0	0	0	0	8	13				
NPTX1	4884	broad.mit.edu	37	17	78449452	78449452	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr17:78449452C>G	ENST00000306773.4	-	2	668	c.511G>C	c.(511-513)Gat>Cat	p.D171H	NPTX1_ENST00000575212.1_5'UTR	NM_002522.3	NP_002513.2	Q15818	NPTX1_HUMAN	neuronal pentraxin I	171					axonogenesis involved in innervation (GO:0060385)|cellular response to glucose stimulus (GO:0071333)|cellular response to potassium ion (GO:0035865)|central nervous system development (GO:0007417)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|mitochondrial transport (GO:0006839)|synaptic transmission (GO:0007268)|transport (GO:0006810)	cytoplasmic vesicle (GO:0031410)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			kidney(1)|large_intestine(2)|liver(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(1)	11	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0487)			TCCAGCTCATCGATCTTGCTC	0.637																																						uc002jyp.1		NA																	0					0						c.(511-513)GAT>CAT		neuronal pentraxin I precursor							58.0	50.0	53.0					17																	78449452		2203	4299	6502	SO:0001583	missense	4884				central nervous system development|synaptic transmission|transport	transport vesicle	metal ion binding	g.chr17:78449452C>G	U61849	CCDS32762.1	17q25.3	2008-05-14				ENSG00000171246			7952	protein-coding gene	gene with protein product		602367				8884281	Standard	NM_002522		Approved		uc002jyp.1	Q15818		ENST00000306773.4:c.511G>C	17.37:g.78449452C>G	ENSP00000307549:p.Asp171His						p.D171H	NM_002522	NP_002513	Q15818	NPTX1_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0487)		2	669	-	all_neural(118;0.0538)		171					B3KXH3|Q5FWE6	Missense_Mutation	SNP	ENST00000306773.4	37	c.511G>C	CCDS32762.1	.	.	.	.	.	.	.	.	.	.	C	19.34	3.808181	0.70797	.	.	ENSG00000171246	ENST00000306773	T	0.10192	2.9	3.7	3.7	0.42460	.	0.108201	0.64402	D	0.000010	T	0.27349	0.0671	M	0.63843	1.955	0.54753	D	0.999983	D	0.76494	0.999	D	0.65010	0.931	T	0.02546	-1.1143	10	0.52906	T	0.07	-10.0196	14.7467	0.69494	0.0:1.0:0.0:0.0	.	171	Q15818	NPTX1_HUMAN	H	171	ENSP00000307549:D171H	ENSP00000307549:D171H	D	-	1	0	NPTX1	76064047	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.579000	0.67457	2.068000	0.61886	0.561000	0.74099	GAT		0.637	NPTX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438051.1			17	48	0	0	0	0	17	48				
AATK	9625	broad.mit.edu	37	17	79094803	79094803	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr17:79094803C>T	ENST00000326724.4	-	11	2957	c.2933G>A	c.(2932-2934)cGg>cAg	p.R978Q	AATK_ENST00000417379.1_Missense_Mutation_p.R875Q	NM_001080395.2	NP_001073864.2	Q6ZMQ8	LMTK1_HUMAN	apoptosis-associated tyrosine kinase	978					brain development (GO:0007420)|negative regulation of axon extension (GO:0030517)|neuron apoptotic process (GO:0051402)|peptidyl-tyrosine autophosphorylation (GO:0038083)|Rab protein signal transduction (GO:0032482)	axonal growth cone (GO:0044295)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)			endometrium(2)|kidney(2)|lung(8)|ovary(3)|prostate(1)|stomach(4)|upper_aerodigestive_tract(1)	21	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			GGTGGAGAGCCGTGTCTCGGG	0.652																																						uc010dia.2		NA																	0				stomach(4)|ovary(2)|lung(2)|upper_aerodigestive_tract(1)	9						c.(2932-2934)CGG>CAG		apoptosis-associated tyrosine kinase							20.0	24.0	23.0					17																	79094803		1907	4104	6011	SO:0001583	missense	9625					integral to membrane|mitochondrion|perinuclear region of cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr17:79094803C>T	AB014541	CCDS45807.1, CCDS58607.1	17q25.3	2014-06-12			ENSG00000181409	ENSG00000181409			21	protein-coding gene	gene with protein product	"""lemur tyrosine kinase 1"", ""protein phosphatase 1, regulatory subunit 77"""	605276				9734811, 10083745	Standard	NM_001080395		Approved	AATYK, KIAA0641, LMTK1, LMR1, AATYK1, PPP1R77	uc010dia.3	Q6ZMQ8	OTTHUMG00000132717	ENST00000326724.4:c.2933G>A	17.37:g.79094803C>T	ENSP00000324196:p.Arg978Gln					AATK_uc010dhz.2_Intron	p.R978Q	NM_001080395	NP_001073864	Q6ZMQ8	LMTK1_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)		11	3013	-	all_neural(118;0.101)		978					O75136|Q6ZN31|Q86X28	Missense_Mutation	SNP	ENST00000326724.4	37	c.2933G>A	CCDS45807.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	2.958|2.958	-0.215273|-0.215273	0.06101|0.06101	.|.	.|.	ENSG00000181409|ENSG00000181409	ENST00000417379|ENST00000326724	.|T	.|0.77877	.|-1.13	4.67|4.67	-9.34|-9.34	0.00636|0.00636	.|.	.|2.165000	.|0.02003	.|N	.|0.046413	T|T	0.60287|0.60287	0.2257|0.2257	L|L	0.33485|0.33485	1.01|1.01	0.09310|0.09310	N|N	1|1	.|B	.|0.15930	.|0.015	.|B	.|0.04013	.|0.001	T|T	0.48352|0.48352	-0.9043|-0.9043	5|10	.|0.16420	.|T	.|0.52	.|.	5.9965|5.9965	0.19497|0.19497	0.3069:0.186:0.0:0.5071|0.3069:0.186:0.0:0.5071	.|.	.|978	.|Q6ZMQ8	.|LMTK1_HUMAN	S|Q	931|978	.|ENSP00000324196:R978Q	.|ENSP00000324196:R978Q	G|R	-|-	1|2	0|0	AATK|AATK	76709398|76709398	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.155000|0.155000	0.21991|0.21991	-2.440000|-2.440000	0.01016|0.01016	-2.572000|-2.572000	0.00467|0.00467	-0.379000|-0.379000	0.06801|0.06801	GGC|CGG		0.652	AATK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256055.1	NM_004920		4	24	0	0	0	0	4	24				
FASN	2194	broad.mit.edu	37	17	80054216	80054216	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr17:80054216C>T	ENST00000306749.2	-	2	324	c.106G>A	c.(106-108)Gat>Aat	p.D36N		NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	36	Beta-ketoacyl synthase. {ECO:0000250}.				acetyl-CoA metabolic process (GO:0006084)|cellular lipid metabolic process (GO:0044255)|cellular response to interleukin-4 (GO:0071353)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|fatty acid metabolic process (GO:0006631)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|osteoblast differentiation (GO:0001649)|pantothenate metabolic process (GO:0015939)|positive regulation of cellular metabolic process (GO:0031325)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|glycogen granule (GO:0042587)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	3-hydroxyoctanoyl-[acyl-carrier-protein] dehydratase activity (GO:0047451)|3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity (GO:0004317)|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity (GO:0004316)|3-oxoacyl-[acyl-carrier-protein] synthase activity (GO:0004315)|[acyl-carrier-protein] S-acetyltransferase activity (GO:0004313)|[acyl-carrier-protein] S-malonyltransferase activity (GO:0004314)|drug binding (GO:0008144)|enoyl-[acyl-carrier-protein] reductase (NADPH, A-specific) activity (GO:0047117)|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity (GO:0004319)|fatty acid synthase activity (GO:0004312)|myristoyl-[acyl-carrier-protein] hydrolase activity (GO:0016295)|NADPH binding (GO:0070402)|oleoyl-[acyl-carrier-protein] hydrolase activity (GO:0004320)|palmitoyl-[acyl-carrier-protein] hydrolase activity (GO:0016296)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)	CGACGGTCATCGTCCGTGACC	0.632																																					Colon(59;314 1043 11189 28578 32273)	uc002kdu.2		NA																	0				central_nervous_system(1)	1						c.(106-108)GAT>AAT		fatty acid synthase	Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)						102.0	90.0	94.0					17																	80054216		2202	4300	6502	SO:0001583	missense	2194				energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	cytosol|Golgi apparatus|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding	g.chr17:80054216C>T	U26644	CCDS11801.1	17q25	2012-01-31			ENSG00000169710	ENSG00000169710	2.3.1.85	"""Short chain dehydrogenase/reductase superfamily / Atypical members"""	3594	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 27X, member 1"""	600212				7835891, 7567999, 19027726	Standard	NM_004104		Approved	FAS, SDR27X1	uc002kdu.3	P49327		ENST00000306749.2:c.106G>A	17.37:g.80054216C>T	ENSP00000304592:p.Asp36Asn						p.D36N	NM_004104	NP_004095	P49327	FAS_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		2	223	-	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		36			Beta-ketoacyl synthase (By similarity).		Q13479|Q16702|Q4LE83|Q6P4U5|Q6SS02|Q969R1|Q96C68|Q96IT0	Missense_Mutation	SNP	ENST00000306749.2	37	c.106G>A	CCDS11801.1	.	.	.	.	.	.	.	.	.	.	C	17.13	3.310372	0.60414	.	.	ENSG00000169710	ENST00000306749	T	0.27104	1.69	4.07	2.05	0.26809	Beta-ketoacyl synthase, N-terminal (1);Thiolase-like, subgroup (1);Thiolase-like (1);	0.064944	0.64402	N	0.000016	T	0.42944	0.1225	L	0.57536	1.79	0.58432	D	0.999997	D	0.89917	1.0	D	0.97110	1.0	T	0.20240	-1.0281	10	0.87932	D	0	-13.1288	9.7596	0.40524	0.0:0.8284:0.0:0.1716	.	36	P49327	FAS_HUMAN	N	36	ENSP00000304592:D36N	ENSP00000304592:D36N	D	-	1	0	FASN	77647505	0.994000	0.37717	0.030000	0.17652	0.052000	0.14988	3.818000	0.55678	0.220000	0.20860	0.462000	0.41574	GAT		0.632	FASN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442369.1	NM_004104		12	92	0	0	0	0	12	92				
CCDC57	284001	broad.mit.edu	37	17	80141798	80141798	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr17:80141798C>T	ENST00000389641.4	-	8	1099	c.1063G>A	c.(1063-1065)Gat>Aat	p.D355N	CCDC57_ENST00000392347.1_Missense_Mutation_p.D355N|CCDC57_ENST00000392343.3_Missense_Mutation_p.D355N|CCDC57_ENST00000327026.3_5'UTR			Q2TAC2	CCD57_HUMAN	coiled-coil domain containing 57	355										endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	16	Breast(20;0.00285)|all_neural(118;0.0878)|all_lung(278;0.0949)|Lung NSC(278;0.128)|Ovarian(332;0.227)		BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0253)			GTTGATGCATCTTCACGAAGT	0.453																																						uc002kdz.1		NA																	0				ovary(2)	2						c.(1063-1065)GAT>AAT		coiled-coil domain containing 57							92.0	90.0	91.0					17																	80141798		1989	4160	6149	SO:0001583	missense	284001							g.chr17:80141798C>T	BC040264		17q25.3	2006-03-08			ENSG00000176155	ENSG00000176155			27564	protein-coding gene	gene with protein product						12477932	Standard	XM_006722279		Approved	FLJ00130, FLJ23754	uc002kdx.1	Q2TAC2	OTTHUMG00000140396	ENST00000389641.4:c.1063G>A	17.37:g.80141798C>T	ENSP00000374292:p.Asp355Asn					CCDC57_uc002kdx.1_Missense_Mutation_p.D355N|CCDC57_uc010dik.1_5'UTR	p.D355N	NM_198082	NP_932348	Q2TAC2	CCD57_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0253)		9	1418	-	Breast(20;0.00285)|all_neural(118;0.0878)|all_lung(278;0.0949)|Lung NSC(278;0.128)|Ovarian(332;0.227)		355			Potential.		A6NP51|A8MQC7|Q8IWG2|Q8TER3	Missense_Mutation	SNP	ENST00000389641.4	37	c.1063G>A		.	.	.	.	.	.	.	.	.	.	C	19.99	3.927944	0.73327	.	.	ENSG00000176155	ENST00000389641;ENST00000392347;ENST00000392343	T;T;T	0.23552	3.08;3.08;1.9	4.92	4.92	0.64577	.	0.414526	0.23579	N	0.046678	T	0.42131	0.1189	M	0.63428	1.95	0.80722	D	1	D;D	0.63046	0.979;0.992	P;P	0.60541	0.801;0.876	T	0.09952	-1.0651	10	0.22109	T	0.4	-11.8366	13.9464	0.64086	0.0:1.0:0.0:0.0	.	355;355	Q2TAC2-2;Q2TAC2	.;CCD57_HUMAN	N	355	ENSP00000374292:D355N;ENSP00000376158:D355N;ENSP00000376154:D355N	ENSP00000374292:D355N	D	-	1	0	CCDC57	77735087	0.989000	0.36119	0.278000	0.24718	0.555000	0.35460	4.560000	0.60802	2.411000	0.81874	0.585000	0.79938	GAT		0.453	CCDC57-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000277182.3	NM_198082		24	32	0	0	0	0	24	32				
LRRC30	339291	broad.mit.edu	37	18	7232012	7232012	+	Missense_Mutation	SNP	C	C	G	rs370002253		TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr18:7232012C>G	ENST00000383467.2	+	1	890	c.876C>G	c.(874-876)ttC>ttG	p.F292L		NM_001105581.1	NP_001099051.1	A6NM36	LRC30_HUMAN	leucine rich repeat containing 30	292								p.F292F(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						AGATGCTCTTCGGCTACCTGA	0.587																																						uc010wzk.1		NA																	1	Substitution - coding silent(1)		large_intestine(1)	ovary(1)|liver(1)	2						c.(874-876)TTC>TTG		leucine rich repeat containing 30							111.0	119.0	116.0					18																	7232012		1936	4142	6078	SO:0001583	missense	339291							g.chr18:7232012C>G		CCDS42409.1	18p11.23	2005-01-06				ENSG00000206422			30219	protein-coding gene	gene with protein product							Standard	NM_001105581		Approved		uc010wzk.2	A6NM36		ENST00000383467.2:c.876C>G	18.37:g.7232012C>G	ENSP00000372959:p.Phe292Leu						p.F292L	NM_001105581	NP_001099051	A6NM36	LRC30_HUMAN			1	876	+			292						Missense_Mutation	SNP	ENST00000383467.2	37	c.876C>G	CCDS42409.1	.	.	.	.	.	.	.	.	.	.	C	12.13	1.846881	0.32606	.	.	ENSG00000206422	ENST00000383467	T	0.38722	1.12	5.81	2.07	0.26955	.	0.376195	0.30356	N	0.009816	T	0.31389	0.0795	L	0.54323	1.7	0.25391	N	0.988527	B	0.24483	0.104	B	0.22601	0.04	T	0.23762	-1.0179	10	0.08179	T	0.78	.	9.7049	0.40209	0.0:0.6792:0.0:0.3208	.	292	A6NM36	LRC30_HUMAN	L	292	ENSP00000372959:F292L	ENSP00000372959:F292L	F	+	3	2	LRRC30	7222012	0.998000	0.40836	0.976000	0.42696	0.970000	0.65996	0.660000	0.25009	0.826000	0.34661	-0.126000	0.14955	TTC		0.587	LRRC30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442140.1	XM_292678		66	137	0	0	0	0	66	137				
ROCK1	6093	broad.mit.edu	37	18	18566941	18566941	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr18:18566941C>G	ENST00000399799.2	-	19	3214	c.2274G>C	c.(2272-2274)ttG>ttC	p.L758F		NM_005406.2	NP_005397.1	Q13464	ROCK1_HUMAN	Rho-associated, coiled-coil containing protein kinase 1	758	Glu-rich.				actin cytoskeleton organization (GO:0030036)|apical constriction (GO:0003383)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|bleb assembly (GO:0032060)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|membrane to membrane docking (GO:0022614)|myoblast migration (GO:0051451)|negative regulation of angiogenesis (GO:0016525)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of focal adhesion assembly (GO:0051894)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of establishment of cell polarity (GO:2000114)|regulation of focal adhesion assembly (GO:0051893)|regulation of keratinocyte differentiation (GO:0045616)|regulation of stress fiber assembly (GO:0051492)|Rho protein signal transduction (GO:0007266)|signal transduction (GO:0007165)|smooth muscle contraction (GO:0006939)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2)	16	Melanoma(1;0.165)					TATTTCCAGTCAAATGTTCTA	0.368																																						uc002kte.2		NA																	0				lung(2)|breast(2)|central_nervous_system(1)	5						c.(2272-2274)TTG>TTC		Rho-associated, coiled-coil containing protein							118.0	110.0	113.0					18																	18566941		2202	4300	6502	SO:0001583	missense	6093				actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking|Rho protein signal transduction	centriole|cytosol|Golgi membrane	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity	g.chr18:18566941C>G		CCDS11870.2	18q11.2	2013-01-10			ENSG00000067900	ENSG00000067900	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	10251	protein-coding gene	gene with protein product		601702				8617235	Standard	NM_005406		Approved	p160ROCK	uc002kte.3	Q13464	OTTHUMG00000131723	ENST00000399799.2:c.2274G>C	18.37:g.18566941C>G	ENSP00000382697:p.Leu758Phe						p.L758F	NM_005406	NP_005397	Q13464	ROCK1_HUMAN			19	3215	-	Melanoma(1;0.165)		758			Glu-rich.		B0YJ91|Q2KHM4|Q59GZ4	Missense_Mutation	SNP	ENST00000399799.2	37	c.2274G>C	CCDS11870.2	.	.	.	.	.	.	.	.	.	.	C	14.71	2.615421	0.46631	.	.	ENSG00000067900	ENST00000399799	T	0.71222	-0.55	5.31	3.54	0.40534	.	0.070422	0.56097	D	0.000028	T	0.65668	0.2713	M	0.64567	1.98	0.53005	D	0.999965	B	0.28667	0.219	B	0.33042	0.157	T	0.64145	-0.6476	10	0.66056	D	0.02	.	6.1831	0.20482	0.2346:0.613:0.0:0.1524	.	758	Q13464	ROCK1_HUMAN	F	758	ENSP00000382697:L758F	ENSP00000382697:L758F	L	-	3	2	ROCK1	16820939	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	1.182000	0.32029	0.814000	0.34374	0.585000	0.79938	TTG		0.368	ROCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254641.2	NM_005406		8	111	0	0	0	0	8	111				
ROCK1	6093	broad.mit.edu	37	18	18586476	18586476	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr18:18586476G>A	ENST00000399799.2	-	16	2661	c.1721C>T	c.(1720-1722)tCa>tTa	p.S574L		NM_005406.2	NP_005397.1	Q13464	ROCK1_HUMAN	Rho-associated, coiled-coil containing protein kinase 1	574	Interaction with FHOD1.				actin cytoskeleton organization (GO:0030036)|apical constriction (GO:0003383)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|bleb assembly (GO:0032060)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|membrane to membrane docking (GO:0022614)|myoblast migration (GO:0051451)|negative regulation of angiogenesis (GO:0016525)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of focal adhesion assembly (GO:0051894)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of establishment of cell polarity (GO:2000114)|regulation of focal adhesion assembly (GO:0051893)|regulation of keratinocyte differentiation (GO:0045616)|regulation of stress fiber assembly (GO:0051492)|Rho protein signal transduction (GO:0007266)|signal transduction (GO:0007165)|smooth muscle contraction (GO:0006939)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2)	16	Melanoma(1;0.165)					CTGACTAATTGACTTGCTCAT	0.383																																						uc002kte.2		NA																	0				lung(2)|breast(2)|central_nervous_system(1)	5						c.(1720-1722)TCA>TTA		Rho-associated, coiled-coil containing protein							159.0	141.0	147.0					18																	18586476		2203	4300	6503	SO:0001583	missense	6093				actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking|Rho protein signal transduction	centriole|cytosol|Golgi membrane	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity	g.chr18:18586476G>A		CCDS11870.2	18q11.2	2013-01-10			ENSG00000067900	ENSG00000067900	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	10251	protein-coding gene	gene with protein product		601702				8617235	Standard	NM_005406		Approved	p160ROCK	uc002kte.3	Q13464	OTTHUMG00000131723	ENST00000399799.2:c.1721C>T	18.37:g.18586476G>A	ENSP00000382697:p.Ser574Leu						p.S574L	NM_005406	NP_005397	Q13464	ROCK1_HUMAN			16	2662	-	Melanoma(1;0.165)		574			Interaction with FHOD1.|Potential.		B0YJ91|Q2KHM4|Q59GZ4	Missense_Mutation	SNP	ENST00000399799.2	37	c.1721C>T	CCDS11870.2	.	.	.	.	.	.	.	.	.	.	G	17.28	3.348661	0.61183	.	.	ENSG00000067900	ENST00000399799	T	0.63580	-0.05	5.44	5.44	0.79542	.	0.285296	0.34906	N	0.003586	T	0.52645	0.1747	L	0.29908	0.895	0.58432	D	0.999998	B	0.12630	0.006	B	0.09377	0.004	T	0.41698	-0.9494	10	0.25106	T	0.35	.	19.4568	0.94895	0.0:0.0:1.0:0.0	.	574	Q13464	ROCK1_HUMAN	L	574	ENSP00000382697:S574L	ENSP00000382697:S574L	S	-	2	0	ROCK1	16840474	1.000000	0.71417	0.946000	0.38457	0.990000	0.78478	7.443000	0.80521	2.832000	0.97577	0.655000	0.94253	TCA		0.383	ROCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254641.2	NM_005406		44	121	0	0	0	0	44	121				
ZNF521	25925	broad.mit.edu	37	18	22805754	22805754	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr18:22805754G>A	ENST00000361524.3	-	4	2276	c.2128C>T	c.(2128-2130)Cag>Tag	p.Q710*	ZNF521_ENST00000538137.2_Nonsense_Mutation_p.Q710*|ZNF521_ENST00000584787.1_Nonsense_Mutation_p.Q490*|ZNF521_ENST00000579111.1_5'Flank	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	710					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					AGGTGTTTCTGAAGGTCATCC	0.443			T	PAX5	ALL																																	uc002kvk.2		NA		Dom	yes		18	18q11.2	25925	T	zinc finger protein 521			L	PAX5		ALL		0				ovary(4)|large_intestine(2)|lung(1)	7						c.(2128-2130)CAG>TAG		zinc finger protein 521							124.0	120.0	122.0					18																	22805754		2203	4300	6503	SO:0001587	stop_gained	25925				cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding	g.chr18:22805754G>A	AK027354	CCDS32806.1	18q11.2	2013-01-08				ENSG00000198795		"""Zinc fingers, C2H2-type"""	24605	protein-coding gene	gene with protein product	"""early hematopoietic zinc finger"""	610974				11984006, 14630787	Standard	NM_015461		Approved	EHZF, Evi3	uc002kvk.2	Q96K83		ENST00000361524.3:c.2128C>T	18.37:g.22805754G>A	ENSP00000354794:p.Gln710*					ZNF521_uc010xbe.1_RNA|ZNF521_uc010dly.2_Nonsense_Mutation_p.Q710*|ZNF521_uc002kvl.2_Nonsense_Mutation_p.Q490*	p.Q710*	NM_015461	NP_056276	Q96K83	ZN521_HUMAN			4	2375	-	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)		710			C2H2-type 16.		A3QVP7|B0YJB7|Q8IXI0|Q8TES6|Q9C065|Q9HAL5|Q9UFK4	Nonsense_Mutation	SNP	ENST00000361524.3	37	c.2128C>T	CCDS32806.1	.	.	.	.	.	.	.	.	.	.	G	39	7.437454	0.98282	.	.	ENSG00000198795	ENST00000361524;ENST00000538137;ENST00000399425	.	.	.	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05721	T	0.95	-32.1962	20.8794	0.99867	0.0:0.0:1.0:0.0	.	.	.	.	X	710;744;710	.	ENSP00000354794:Q710X	Q	-	1	0	ZNF521	21059752	1.000000	0.71417	0.994000	0.49952	0.997000	0.91878	9.476000	0.97823	2.941000	0.99782	0.655000	0.94253	CAG		0.443	ZNF521-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446781.2	NM_015461		24	101	0	0	0	0	24	101				
ZSCAN30	100101467	broad.mit.edu	37	18	32843968	32843968	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr18:32843968C>G	ENST00000420878.3	-	3	804	c.349G>C	c.(349-351)Gag>Cag	p.E117Q	ZSCAN30_ENST00000592278.1_Missense_Mutation_p.E117Q|ZSCAN30_ENST00000333206.5_Missense_Mutation_p.E117Q|ZSCAN30_ENST00000601405.1_Intron|ZSCAN30_ENST00000589178.1_Missense_Mutation_p.E117Q|ZNF397_ENST00000589420.1_Intron|ZSCAN30_ENST00000383091.2_Missense_Mutation_p.E117Q	NM_001166012.1	NP_001159484.1	Q86W11	ZSC30_HUMAN	zinc finger and SCAN domain containing 30	117	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(5)|lung(3)|urinary_tract(1)	9						ACAGCTTCCTCTCCATTCTCT	0.498																																						uc002kym.2		NA																	0					0						c.(349-351)GAG>CAG		zinc finger protein 397 opposite strand							61.0	59.0	59.0					18																	32843968		1568	3582	5150	SO:0001583	missense	100101467				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr18:32843968C>G	AY234408	CCDS42427.1, CCDS74207.1	18q12.2	2013-01-08	2010-07-23	2010-07-23	ENSG00000186814	ENSG00000186814		"""-"", ""Zinc fingers, C2H2-type"""	33517	protein-coding gene	gene with protein product			"""zinc finger protein 397 opposite strand"", ""ZNF397 opposite strand"""	ZNF397OS		12801647	Standard	NM_001166012		Approved	ZNF917	uc002kym.3	Q86W11		ENST00000420878.3:c.349G>C	18.37:g.32843968C>G	ENSP00000392371:p.Glu117Gln					ZNF397_uc010dmr.2_Intron|ZNF397OS_uc010xce.1_Missense_Mutation_p.E117Q|ZNF397OS_uc002kyn.1_Missense_Mutation_p.E117Q	p.E117Q	NM_001112734	NP_001106205	Q86W11	ZSC30_HUMAN			2	577	-			117			SCAN box.		B4E0N0|Q6ZNB3|Q96PN3	Missense_Mutation	SNP	ENST00000420878.3	37	c.349G>C	CCDS42427.1	.	.	.	.	.	.	.	.	.	.	C	19.88	3.908742	0.72868	.	.	ENSG00000186814	ENST00000420878;ENST00000333206;ENST00000360932;ENST00000383091	T;T;T	0.05786	3.39;3.39;3.39	4.6	4.6	0.57074	Retrovirus capsid, C-terminal (1);Transcription regulator SCAN (3);	.	.	.	.	T	0.31451	0.0797	M	0.91972	3.26	0.33468	D	0.585877	D;D	0.89917	0.999;1.0	D;D	0.91635	0.998;0.999	T	0.52631	-0.8550	9	0.72032	D	0.01	.	13.1422	0.59440	0.0:1.0:0.0:0.0	.	117;117	C9JCM2;Q86W11	.;ZSC30_HUMAN	Q	117;117;74;117	ENSP00000392371:E117Q;ENSP00000329738:E117Q;ENSP00000372569:E117Q	ENSP00000329738:E117Q	E	-	1	0	ZSCAN30	31097966	0.995000	0.38212	0.996000	0.52242	0.929000	0.56500	4.330000	0.59266	2.565000	0.86533	0.650000	0.86243	GAG		0.498	ZSCAN30-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442510.1	NM_001112734		11	70	0	0	0	0	11	70				
KATNAL2	83473	broad.mit.edu	37	18	44595607	44595607	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr18:44595607C>T	ENST00000245121.5	+	9	820	c.626C>T	c.(625-627)aCa>aTa	p.T209I	KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000356157.7_Missense_Mutation_p.T281I	NM_031303.2	NP_112593.2			katanin p60 subunit A-like 2											central_nervous_system(2)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2)	27						CAGCTATTTACAGGAATTCTT	0.463																																						uc002lco.2		NA																	0				ovary(1)|skin(1)|central_nervous_system(1)|pancreas(1)	4						c.(625-627)ACA>ATA		katanin p60 subunit A-like 2							187.0	164.0	172.0					18																	44595607		2203	4300	6503	SO:0001583	missense	83473					cytoplasm|microtubule	ATP binding|microtubule-severing ATPase activity	g.chr18:44595607C>T	BC034999	CCDS32828.1	18q21.1	2010-04-21			ENSG00000167216	ENSG00000167216		"""ATPases / AAA-type"""	25387	protein-coding gene	gene with protein product		614697				12477932	Standard	NM_031303		Approved	MGC33211, DKFZP667C165	uc002lco.3	Q8IYT4		ENST00000245121.5:c.626C>T	18.37:g.44595607C>T	ENSP00000245121:p.Thr209Ile					KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lcp.3_Missense_Mutation_p.T136I	p.T209I	NM_031303	NP_112593	Q8IYT4	KATL2_HUMAN			9	820	+			281						Missense_Mutation	SNP	ENST00000245121.5	37	c.626C>T	CCDS32828.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.730590	0.89390	.	.	ENSG00000167216	ENST00000356157;ENST00000245121;ENST00000454462	D;D	0.94417	-3.42;-3.42	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	D	0.96278	0.8786	M	0.73372	2.23	0.80722	D	1	D	0.56746	0.977	P	0.55785	0.784	D	0.95998	0.8991	10	0.56958	D	0.05	-0.8911	19.8154	0.96566	0.0:1.0:0.0:0.0	.	281	Q8IYT4	KATL2_HUMAN	I	281;209;49	ENSP00000348478:T281I;ENSP00000245121:T209I	ENSP00000245121:T209I	T	+	2	0	KATNAL2	42849605	1.000000	0.71417	0.998000	0.56505	0.739000	0.42172	7.325000	0.79124	2.699000	0.92147	0.655000	0.94253	ACA		0.463	KATNAL2-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446138.2	NM_031303		25	94	0	0	0	0	25	94				
CTDP1	9150	broad.mit.edu	37	18	77474881	77474881	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr18:77474881C>G	ENST00000299543.7	+	8	1568	c.1421C>G	c.(1420-1422)tCt>tGt	p.S474C	CTDP1_ENST00000075430.7_Missense_Mutation_p.S474C	NM_001202504.1|NM_004715.4	NP_001189433.1|NP_004706.3	Q9Y5B0	CTDP1_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1	474	Ser-rich.				exit from mitosis (GO:0010458)|gene expression (GO:0010467)|positive regulation of viral transcription (GO:0050434)|protein dephosphorylation (GO:0006470)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)|spindle midzone (GO:0051233)|spindle pole (GO:0000922)	CTD phosphatase activity (GO:0008420)|DNA-directed RNA polymerase activity (GO:0003899)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(2)|urinary_tract(1)	35		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;5.2e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0277)		TCCTCCGCCTCTGATGGCGAA	0.677																																						uc002lnh.1		NA																	0					0						c.(1420-1422)TCT>TGT		CTD (carboxy-terminal domain, RNA polymerase II,							11.0	11.0	11.0					18																	77474881		2173	4281	6454	SO:0001583	missense	9150				positive regulation of viral transcription|protein dephosphorylation|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	CTD phosphatase activity|DNA-directed RNA polymerase activity	g.chr18:77474881C>G	AF081287	CCDS12017.1, CCDS12018.1, CCDS74239.1	18q23	2014-09-17			ENSG00000060069	ENSG00000060069		"""Serine/threonine phosphatases / CTD aspartate-based phosphatases"""	2498	protein-coding gene	gene with protein product		604927				9405607, 9765293	Standard	NM_004715		Approved	FCP1	uc002lnh.2	Q9Y5B0	OTTHUMG00000132920	ENST00000299543.7:c.1421C>G	18.37:g.77474881C>G	ENSP00000299543:p.Ser474Cys					CTDP1_uc002lni.1_Missense_Mutation_p.S474C|CTDP1_uc010drd.1_Missense_Mutation_p.S474C	p.S474C	NM_004715	NP_004706	Q9Y5B0	CTDP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;5.2e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0277)	8	1568	+		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)	474			Ser-rich.		A8MY97|Q7Z644|Q96BZ1|Q9Y6F5	Missense_Mutation	SNP	ENST00000299543.7	37	c.1421C>G	CCDS12017.1	.	.	.	.	.	.	.	.	.	.	C	16.04	3.009119	0.54361	.	.	ENSG00000060069	ENST00000299543;ENST00000075430	T;T	0.15256	2.45;2.44	4.29	4.29	0.51040	.	0.706837	0.14670	N	0.305439	T	0.38241	0.1033	L	0.50333	1.59	0.32115	N	0.588816	D;D;D	0.89917	1.0;1.0;0.998	D;D;P	0.76575	0.988;0.964;0.87	T	0.46162	-0.9211	10	0.87932	D	0	-7.3611	17.1007	0.86648	0.0:1.0:0.0:0.0	.	355;474;474	Q9Y5B0-3;Q9Y5B0-4;Q9Y5B0	.;.;CTDP1_HUMAN	C	474	ENSP00000299543:S474C;ENSP00000075430:S474C	ENSP00000075430:S474C	S	+	2	0	CTDP1	75575869	0.278000	0.24230	0.026000	0.17262	0.028000	0.11728	2.332000	0.43903	2.092000	0.63282	0.563000	0.77884	TCT		0.677	CTDP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256432.1	NM_004715		2	4	0	0	0	0	2	4				
SHC2	25759	broad.mit.edu	37	19	422154	422154	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr19:422154C>T	ENST00000264554.6	-	11	1611	c.1612G>A	c.(1612-1614)Gag>Aag	p.E538K		NM_012435.2	NP_036567.2	P98077	SHC2_HUMAN	SHC (Src homology 2 domain containing) transforming protein 2	538	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				activation of MAPK activity (GO:0000187)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Ras protein signal transduction (GO:0007265)	cytosol (GO:0005829)				endometrium(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	21		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		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)		ACCACGCCCTCGGGGTCCACG	0.687																																						uc002loq.3		NA																	0					0						c.(1612-1614)GAG>AAG		SHC (Src homology 2 domain containing)							18.0	22.0	20.0					19																	422154		2178	4281	6459	SO:0001583	missense	25759				insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol		g.chr19:422154C>T	AB001451	CCDS45891.1	19p13.3	2013-02-14				ENSG00000129946		"""SH2 domain containing"""	29869	protein-coding gene	gene with protein product	"""neuronal Shc adaptor homolog"""	605217				7527937, 9507002	Standard	NM_012435		Approved	SLI, SCK, SHCB	uc002loq.4	P98077		ENST00000264554.6:c.1612G>A	19.37:g.422154C>T	ENSP00000264554:p.Glu538Lys					SHC2_uc002lop.3_Missense_Mutation_p.E279K	p.E538K	NM_012435	NP_036567	P98077	SHC2_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)	11	1612	-		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)	538			SH2.		O60230|Q9NPL5|Q9UCX4	Missense_Mutation	SNP	ENST00000264554.6	37	c.1612G>A	CCDS45891.1	.	.	.	.	.	.	.	.	.	.	C	27.8	4.868424	0.91587	.	.	ENSG00000129946	ENST00000264554	T	0.64991	-0.13	4.69	4.69	0.59074	SH2 motif (4);	0.000000	0.85682	D	0.000000	T	0.73877	0.3643	L	0.53249	1.67	0.80722	D	1	D	0.76494	0.999	D	0.63957	0.92	T	0.77040	-0.2735	10	0.87932	D	0	-46.5106	17.0535	0.86526	0.0:1.0:0.0:0.0	.	538	P98077	SHC2_HUMAN	K	538	ENSP00000264554:E538K	ENSP00000264554:E538K	E	-	1	0	SHC2	373154	1.000000	0.71417	0.996000	0.52242	0.572000	0.35998	7.161000	0.77505	2.544000	0.85801	0.609000	0.83330	GAG		0.687	SHC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451840.3			5	10	0	0	0	0	5	10				
POLRMT	5442	broad.mit.edu	37	19	621366	621366	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr19:621366C>A	ENST00000588649.2	-	10	2416	c.2332G>T	c.(2332-2334)Gag>Tag	p.E778*	LLNLR-299G3.1_ENST00000607288.1_RNA	NM_005035.3	NP_005026.3	O00411	RPOM_HUMAN	polymerase (RNA) mitochondrial (DNA directed)	778					gene expression (GO:0010467)|transcription from mitochondrial promoter (GO:0006390)|transcription initiation from mitochondrial promoter (GO:0006391)	mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(3)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)|prostate(1)|stomach(1)	20		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		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)		TACAGCGCCTCCGCCCGCAGG	0.746																																						uc002lpf.1		NA																	0				ovary(1)|pancreas(1)	2						c.(2332-2334)GAG>TAG		mitochondrial DNA-directed RNA polymerase							5.0	6.0	6.0					19																	621366		2086	4106	6192	SO:0001587	stop_gained	5442				transcription initiation from mitochondrial promoter	mitochondrial nucleoid	DNA binding|DNA-directed RNA polymerase activity|protein binding	g.chr19:621366C>A		CCDS12036.1	19p13.3	2010-10-22			ENSG00000099821	ENSG00000099821	2.7.7.6		9200	protein-coding gene	gene with protein product		601778				9097968	Standard	NM_005035		Approved	h-mtRPOL, APOLMT, MTRNAP, MTRPOL	uc002lpf.1	O00411		ENST00000588649.2:c.2332G>T	19.37:g.621366C>A	ENSP00000465759:p.Glu778*						p.E778*	NM_005035	NP_005026	O00411	RPOM_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)	10	2388	-		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)	778					O60370	Nonsense_Mutation	SNP	ENST00000588649.2	37	c.2332G>T	CCDS12036.1	.	.	.	.	.	.	.	.	.	.	.	35	5.507174	0.96386	.	.	ENSG00000099821	ENST00000215591	.	.	.	4.94	3.83	0.44106	.	0.159187	0.53938	D	0.000050	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-18.7265	13.7904	0.63135	0.0:0.8454:0.1546:0.0	.	.	.	.	X	778	.	ENSP00000215591:E778X	E	-	1	0	POLRMT	572366	1.000000	0.71417	0.011000	0.14972	0.032000	0.12392	5.543000	0.67225	2.283000	0.76528	0.455000	0.32223	GAG		0.746	POLRMT-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452172.3	NM_005035		4	10	1	0	0.00909568	0.00923134	4	10				
MEX3D	399664	broad.mit.edu	37	19	1556393	1556393	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr19:1556393C>G	ENST00000402693.4	-	2	1124	c.1125G>C	c.(1123-1125)aaG>aaC	p.K375N	AC027307.1_ENST00000410788.1_RNA|AC027307.2_ENST00000581992.1_RNA|MEX3D_ENST00000388824.6_Missense_Mutation_p.K375N	NM_203304.3	NP_976049.3	Q86XN8	MEX3D_HUMAN	mex-3 RNA binding family member D	375					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)		GGTTGGGGGTCTTGGCCCAGA	0.776																																						uc010dsn.2		NA																	0				lung(1)	1						c.(1123-1125)AAG>AAC		ring finger and KH domain containing 1							8.0	10.0	10.0					19																	1556393		1656	3574	5230	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.chr19:1556393C>G	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.1125G>C	19.37:g.1556393C>G	ENSP00000384398:p.Lys375Asn						p.K375N	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	1125	-		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)	375					A0PJL8|A1L023|E9PAL6|Q71M49	Missense_Mutation	SNP	ENST00000402693.4	37	c.1125G>C	CCDS32865.2	.	.	.	.	.	.	.	.	.	.	C	13.62	2.293048	0.40594	.	.	ENSG00000181588	ENST00000402693;ENST00000388824	T;T	0.51817	0.69;0.69	4.58	4.58	0.56647	.	0.209103	0.38058	U	0.001823	T	0.54303	0.1850	L	0.53249	1.67	0.38888	D	0.957057	D	0.58620	0.983	P	0.58130	0.833	T	0.56438	-0.7979	10	0.40728	T	0.16	-23.3213	8.6785	0.34194	0.0:0.8195:0.0:0.1805	.	375	Q86XN8	MEX3D_HUMAN	N	375	ENSP00000384398:K375N;ENSP00000373476:K375N	ENSP00000373476:K375N	K	-	3	2	MEX3D	1507393	0.001000	0.12720	1.000000	0.80357	0.663000	0.39108	-0.814000	0.04486	2.068000	0.61886	0.313000	0.20887	AAG		0.776	MEX3D-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317870.2	NM_203304		3	9	0	0	0	0	3	9				
TCF3	6929	broad.mit.edu	37	19	1621849	1621849	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr19:1621849C>T	ENST00000262965.5	-	11	1287	c.943G>A	c.(943-945)Gac>Aac	p.D315N	TCF3_ENST00000588136.1_Missense_Mutation_p.D315N|TCF3_ENST00000395423.3_Missense_Mutation_p.D264N|TCF3_ENST00000344749.5_Missense_Mutation_p.D315N|TCF3_ENST00000453954.2_Missense_Mutation_p.D231N	NM_003200.3	NP_003191.1	Q9HCS4	TF7L1_HUMAN	transcription factor 3	0	Pro-rich.				anterior/posterior axis specification, embryo (GO:0008595)|axial mesoderm morphogenesis (GO:0048319)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|chromatin organization (GO:0006325)|generation of neurons (GO:0048699)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter during mitosis (GO:0046022)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|regulation of Wnt signaling pathway (GO:0030111)|skin development (GO:0043588)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	16		Acute lymphoblastic leukemia(61;5.94e-12)|all_hematologic(61;1.27e-07)		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)		AGGAGGCTGTCGGCCCCGCTG	0.711			T	"""PBX1, HLF, TFPT"""	pre B-ALL																																	uc002ltr.2		NA		Dom	yes		19	19p13.3	6929	T	transcription factor 3 (E2A immunoglobulin enhancer binding factors E12/E47)			L	PBX1|HLF|TFPT		pre B-ALL		0				lung(2)|breast(2)|ovary(1)|large_intestine(1)|skin(1)	7						c.(943-945)GAC>AAC		transcription factor 3 isoform E12							9.0	12.0	11.0					19																	1621849		2173	4287	6460	SO:0001583	missense	6929				B cell lineage commitment|B cell lineage commitment|G1 phase of mitotic cell cycle|immunoglobulin V(D)J recombination|muscle cell differentiation|positive regulation of B cell proliferation|positive regulation of cell cycle|positive regulation of muscle cell differentiation|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus|protein complex|transcription factor complex	bHLH transcription factor binding|DNA binding|E-box binding|identical protein binding|mitogen-activated protein kinase kinase kinase binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|vitamin D response element binding	g.chr19:1621849C>T	M65214	CCDS12074.1, CCDS45899.1	19p13.3	2014-02-13	2013-02-26		ENSG00000071564	ENSG00000071564		"""Basic helix-loop-helix proteins"""	11633	protein-coding gene	gene with protein product	"""transcription factor E2-alpha"", ""immunoglobulin transcription factor 1"", ""kappa-E2-binding factor"", ""E2A immunoglobulin enhancer-binding factor E12/E47"", ""VDR interacting repressor"""	147141				2308859, 1967983	Standard	NM_003200		Approved	E2A, ITF1, MGC129647, MGC129648, bHLHb21, VDIR, E47	uc002ltt.4	P15923	OTTHUMG00000180031	ENST00000262965.5:c.943G>A	19.37:g.1621849C>T	ENSP00000262965:p.Asp315Asn					TCF3_uc002lto.2_Missense_Mutation_p.D77N|TCF3_uc002ltt.3_Missense_Mutation_p.D315N|TCF3_uc002ltq.2_Missense_Mutation_p.D264N|TCF3_uc002lts.1_Missense_Mutation_p.D231N|TCF3_uc010dso.1_5'Flank	p.D315N	NM_003200	NP_003191	P15923	TFE2_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)	11	1010	-		Acute lymphoblastic leukemia(61;5.94e-12)|all_hematologic(61;1.27e-07)	315					Q53R97|Q6PD70|Q9NP00	Missense_Mutation	SNP	ENST00000262965.5	37	c.943G>A	CCDS12074.1	.	.	.	.	.	.	.	.	.	.	C	17.41	3.382110	0.61845	.	.	ENSG00000071564	ENST00000262965;ENST00000344749;ENST00000453954;ENST00000395423;ENST00000536553	T;T;T	0.49139	0.79;0.79;0.79	4.35	3.31	0.37934	.	0.485136	0.22357	N	0.061136	T	0.53738	0.1815	M	0.66939	2.045	0.52501	D	0.999959	D;P;P;P;D	0.65815	0.983;0.921;0.956;0.9;0.995	P;B;B;B;P	0.50659	0.576;0.387;0.34;0.361;0.647	T	0.58532	-0.7620	10	0.66056	D	0.02	-9.7733	11.1248	0.48310	0.0:0.9074:0.0:0.0926	.	315;42;315;264;252	P15923-2;F5GZ25;P15923;Q2TB39;Q6PJU3	.;.;TFE2_HUMAN;.;.	N	315;315;315;264;42	ENSP00000262965:D315N;ENSP00000344375:D315N;ENSP00000378813:D264N	ENSP00000262965:D315N	D	-	1	0	TCF3	1572849	1.000000	0.71417	0.245000	0.24217	0.173000	0.22820	6.874000	0.75546	1.036000	0.39998	0.462000	0.41574	GAC		0.711	TCF3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000449367.1	NM_003200		3	14	0	0	0	0	3	14				
REXO1	57455	broad.mit.edu	37	19	1818554	1818554	+	Silent	SNP	G	G	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr19:1818554G>A	ENST00000170168.4	-	10	3037	c.2943C>T	c.(2941-2943)ctC>ctT	p.L981L	MIR1909_ENST00000411312.1_RNA|CTB-31O20.3_ENST00000586259.1_RNA	NM_020695.3	NP_065746.3	Q8N1G1	REXO1_HUMAN	REX1, RNA exonuclease 1 homolog (S. cerevisiae)	981						nucleus (GO:0005634)	exonuclease activity (GO:0004527)|nucleic acid binding (GO:0003676)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	16		Ovarian(11;1.78e-06)|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)		AAGAGGACACGAGGTACTCGG	0.672																																						uc002lua.3		NA																	0					0						c.(2941-2943)CTC>CTT		transcription elongation factor B polypeptide 3							28.0	26.0	27.0					19																	1818554		2199	4298	6497	SO:0001819	synonymous_variant	57455					nucleus	exonuclease activity|nucleic acid binding	g.chr19:1818554G>A	AB032964	CCDS32866.1	19p13.3	2014-05-28	2005-08-22	2005-08-22	ENSG00000079313	ENSG00000079313			24616	protein-coding gene	gene with protein product	"""elongin A binding protein 1"""	609614	"""transcription elongation factor B polypeptide 3 binding protein 1"""	TCEB3BP1		10574461	Standard	NM_020695		Approved	EloA-BP1, KIAA1138	uc002lua.4	Q8N1G1	OTTHUMG00000179991	ENST00000170168.4:c.2943C>T	19.37:g.1818554G>A						REXO1_uc010dsq.2_Silent_p.L290L|REXO1_uc010xgs.1_5'UTR|MIR1909_hsa-mir-1909|MI0008330_5'Flank|REXO1_uc010dsp.1_RNA	p.L981L	NM_020695	NP_065746	Q8N1G1	REXO1_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)	10	3038	-		Ovarian(11;1.78e-06)|Hepatocellular(1079;0.137)	981					Q9ULT2	Silent	SNP	ENST00000170168.4	37	c.2943C>T	CCDS32866.1																																																																																				0.672	REXO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449200.1	NM_020695		3	18	0	0	0	0	3	18				
DIRAS1	148252	broad.mit.edu	37	19	2717417	2717417	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr19:2717417C>T	ENST00000323469.4	-	2	571	c.388G>A	c.(388-390)Gtg>Atg	p.V130M	DIRAS1_ENST00000585334.1_Missense_Mutation_p.V130M	NM_145173.3	NP_660156.1	O95057	DIRA1_HUMAN	DIRAS family, GTP-binding RAS-like 1	130					GTP catabolic process (GO:0006184)|small GTPase mediated signal transduction (GO:0007264)	plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			kidney(1)|lung(2)|ovary(2)|prostate(1)	6				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)		CGCGTGTCCACCTCCCGCTGC	0.617																																						uc002lwf.3		NA																	0				ovary(1)	1						c.(388-390)GTG>ATG		DIRAS family, GTP-binding RAS-like 1							77.0	65.0	69.0					19																	2717417		2203	4300	6503	SO:0001583	missense	148252				small GTPase mediated signal transduction	intracellular|plasma membrane	GTP binding|GTPase activity	g.chr19:2717417C>T	BC030660	CCDS12092.1	19p13.3	2014-05-09				ENSG00000176490			19127	protein-coding gene	gene with protein product		607862				12107278	Standard	NM_145173		Approved	Di-Ras1, GBTS1, RIG	uc002lwf.3	O95057		ENST00000323469.4:c.388G>A	19.37:g.2717417C>T	ENSP00000325836:p.Val130Met						p.V130M	NM_145173	NP_660156	O95057	DIRA1_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	546	-			130						Missense_Mutation	SNP	ENST00000323469.4	37	c.388G>A	CCDS12092.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.540261	0.85917	.	.	ENSG00000176490	ENST00000323469	D	0.83914	-1.78	4.21	4.21	0.49690	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.88328	0.6407	M	0.89785	3.06	0.80722	D	1	D	0.61080	0.989	P	0.48840	0.592	D	0.91227	0.5011	10	0.87932	D	0	.	14.0762	0.64891	0.0:1.0:0.0:0.0	.	130	O95057	DIRA1_HUMAN	M	130	ENSP00000325836:V130M	ENSP00000325836:V130M	V	-	1	0	DIRAS1	2668417	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.860000	0.55995	1.898000	0.54952	0.549000	0.68633	GTG		0.617	DIRAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451350.1			15	32	0	0	0	0	15	32				
MAP2K2	5605	broad.mit.edu	37	19	4099284	4099284	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr19:4099284G>C	ENST00000262948.5	-	7	1087	c.834C>G	c.(832-834)atC>atG	p.I278M	MAP2K2_ENST00000599345.1_5'Flank|MAP2K2_ENST00000394867.4_Missense_Mutation_p.I181M	NM_030662.3	NP_109587.1	P36507	MP2K2_HUMAN	mitogen-activated protein kinase kinase 2	278	Pro-rich.|Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERK1 and ERK2 cascade (GO:0070371)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|MAPK cascade (GO:0000165)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine autophosphorylation (GO:0036289)|positive regulation of cell motility (GO:2000147)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|Ras protein signal transduction (GO:0007265)|regulation of early endosome to late endosome transport (GO:2000641)|regulation of Golgi inheritance (GO:0090170)|regulation of stress-activated MAPK cascade (GO:0032872)|small GTPase mediated signal transduction (GO:0007264)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cell cortex (GO:0005938)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|late endosome (GO:0005770)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|peroxisomal membrane (GO:0005778)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|PDZ domain binding (GO:0030165)|protein serine/threonine kinase activator activity (GO:0043539)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|scaffold protein binding (GO:0097110)						Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)	Bosutinib(DB06616)|Trametinib(DB08911)	GCCGGCCAAAGATGGCCTCCA	0.697																																						uc002lzk.2		NA																	0					0						c.(832-834)ATC>ATG		mitogen-activated protein kinase kinase 2							15.0	16.0	16.0					19																	4099284		2195	4297	6492	SO:0001583	missense	5605	Cardiofaciocutaneous_syndrome			activation of MAPK activity|activation of MAPKK activity|axon guidance|epidermal growth factor receptor signaling pathway|ERK1 and ERK2 cascade|innate immune response|insulin receptor signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|extracellular region	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr19:4099284G>C	L11285	CCDS12120.1	19p13.3	2014-09-17			ENSG00000126934	ENSG00000126934	2.7.12.2	"""Mitogen-activated protein kinase cascade / Kinase kinases"""	6842	protein-coding gene	gene with protein product		601263		PRKMK2		8388392	Standard	NM_030662		Approved	MEK2	uc002lzk.3	P36507	OTTHUMG00000134286	ENST00000262948.5:c.834C>G	19.37:g.4099284G>C	ENSP00000262948:p.Ile278Met					MAP2K2_uc002lzj.2_Missense_Mutation_p.I88M	p.I278M	NM_030662	NP_109587	P36507	MP2K2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)	7	1088	-		Hepatocellular(1079;0.137)	278			Protein kinase.|Pro-rich.			Missense_Mutation	SNP	ENST00000262948.5	37	c.834C>G	CCDS12120.1	.	.	.	.	.	.	.	.	.	.	g	7.889	0.731980	0.15507	.	.	ENSG00000126934	ENST00000262948;ENST00000394867	T;T	0.66099	-0.19;-0.19	4.44	-5.08	0.02929	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.171878	0.48767	D	0.000169	T	0.38401	0.1039	N	0.20986	0.625	0.39553	D	0.969	B	0.13145	0.007	B	0.23018	0.043	T	0.03597	-1.1021	10	0.22706	T	0.39	-5.7384	9.2083	0.37302	0.0758:0.0:0.3276:0.5966	.	278	P36507	MP2K2_HUMAN	M	278;181	ENSP00000262948:I278M;ENSP00000378336:I181M	ENSP00000262948:I278M	I	-	3	3	MAP2K2	4050284	0.647000	0.27304	0.950000	0.38849	0.603000	0.37013	-0.517000	0.06275	-0.505000	0.06568	-0.532000	0.04303	ATC		0.697	MAP2K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258957.2			3	13	0	0	0	0	3	13				
SAFB	6294	broad.mit.edu	37	19	5664440	5664440	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr19:5664440G>A	ENST00000292123.5	+	17	2431	c.2324G>A	c.(2323-2325)cGa>cAa	p.R775Q	SAFB_ENST00000433404.1_Missense_Mutation_p.R605Q|SAFB_ENST00000454510.1_Missense_Mutation_p.R706Q|SAFB_ENST00000588852.1_Missense_Mutation_p.R775Q|SAFB_ENST00000592224.1_Missense_Mutation_p.R774Q|SAFB_ENST00000538656.1_Missense_Mutation_p.R617Q	NM_001201338.1|NM_001201339.1|NM_002967.3	NP_001188267.1|NP_001188268.1|NP_002958.2	Q15424	SAFB1_HUMAN	scaffold attachment factor B	775	Arg-rich.|Interaction with POLR2A.|Interaction with SAFB2.				chromatin organization (GO:0006325)|growth (GO:0040007)|hormone metabolic process (GO:0042445)|intracellular estrogen receptor signaling pathway (GO:0030520)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|core promoter binding (GO:0001047)|double-stranded DNA binding (GO:0003690)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(1)	23				UCEC - Uterine corpus endometrioid carcinoma (162;0.000222)		ATGGGAGAACGAGAAGGACAG	0.458																																					Colon(88;338 1345 6184 8214 20897)	uc002mcf.2		NA																	0				ovary(1)|liver(1)|skin(1)	3						c.(2323-2325)CGA>CAA		scaffold attachment factor B							90.0	88.0	88.0					19																	5664440		2203	4300	6503	SO:0001583	missense	6294				chromatin organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	double-stranded DNA binding|nucleotide binding|protein binding|RNA binding	g.chr19:5664440G>A	L43631	CCDS12142.1, CCDS56077.1, CCDS59339.1, CCDS59340.1	19p13.3-p13.2	2013-02-12				ENSG00000160633		"""RNA binding motif (RRM) containing"""	10520	protein-coding gene	gene with protein product	"""Hsp27 ERE-TATA binding protein"""	602895				9605873, 8600450	Standard	NM_002967		Approved	HET, SAFB1	uc002mcg.3	Q15424		ENST00000292123.5:c.2324G>A	19.37:g.5664440G>A	ENSP00000292123:p.Arg775Gln					SAFB_uc002mcg.2_Missense_Mutation_p.R775Q|SAFB_uc002mce.3_Missense_Mutation_p.R774Q|SAFB_uc010xir.1_Missense_Mutation_p.R774Q|SAFB_uc010xis.1_Missense_Mutation_p.R706Q|SAFB_uc010xit.1_Missense_Mutation_p.R617Q|SAFB_uc010xiu.1_Missense_Mutation_p.R574Q	p.R775Q	NM_002967	NP_002958	Q15424	SAFB1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;0.000222)	17	2377	+			775			Interaction with SAFB2.|Interaction with POLR2A.|Arg-rich.		A0AV56|B7Z5B6|B7ZLP6|F5H0H3|O60406|Q59HH8	Missense_Mutation	SNP	ENST00000292123.5	37	c.2324G>A	CCDS12142.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.981091	0.74474	.	.	ENSG00000160633	ENST00000454510;ENST00000540206;ENST00000433404;ENST00000292123;ENST00000538656	T;T;T;T	0.13538	2.58;2.76;2.6;2.59	5.04	5.04	0.67666	.	0.000000	0.49916	D	0.000136	T	0.39600	0.1084	M	0.77313	2.365	0.54753	D	0.999982	D;D;D;D;D;D;D	0.89917	0.997;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.81914	0.968;0.988;0.995;0.988;0.988;0.988;0.988	T	0.23368	-1.0190	10	0.59425	D	0.04	-20.2017	16.5634	0.84572	0.0:0.0:1.0:0.0	.	574;617;706;774;775;775;774	B7Z1C7;B7Z2F6;F5H0H3;B7ZLP5;A0AV56;Q15424;B7ZLP6	.;.;.;.;.;SAFB1_HUMAN;.	Q	706;670;605;775;617	ENSP00000415895:R706Q;ENSP00000404545:R605Q;ENSP00000292123:R775Q;ENSP00000438880:R617Q	ENSP00000292123:R775Q	R	+	2	0	SAFB	5615440	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.518000	0.73764	2.492000	0.84095	0.655000	0.94253	CGA		0.458	SAFB-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000451641.2			5	36	0	0	0	0	5	36				
DENND1C	79958	broad.mit.edu	37	19	6471307	6471307	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr19:6471307C>T	ENST00000381480.2	-	17	1371	c.1259G>A	c.(1258-1260)cGa>cAa	p.R420Q	DENND1C_ENST00000543576.1_Missense_Mutation_p.R376Q	NM_024898.2	NP_079174.2	Q8IV53	DEN1C_HUMAN	DENN/MADD domain containing 1C	420					positive regulation of Rab GTPase activity (GO:0032851)	cytoplasmic vesicle (GO:0031410)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			endometrium(3)|kidney(3)|large_intestine(1)|lung(3)	10						CTGATAGGATCGAAGGGCCCC	0.607																																						uc002mfe.2		NA																	0				large_intestine(1)	1						c.(1258-1260)CGA>CAA		DENN/MADD domain containing 1C							56.0	54.0	55.0					19																	6471307		1946	4144	6090	SO:0001583	missense	79958					clathrin-coated vesicle|cytosol	guanyl-nucleotide exchange factor activity	g.chr19:6471307C>T	AL713770	CCDS45938.1	19p13.3	2014-02-06	2005-08-17	2005-08-17	ENSG00000205744	ENSG00000205744		"""DENN/MADD domain containing"""	26225	protein-coding gene	gene with protein product		613634	"""family with sequence similarity 31, member C"""	FAM31C		12477932	Standard	XM_005259646		Approved	FLJ22757	uc002mfe.3	Q8IV53	OTTHUMG00000180853	ENST00000381480.2:c.1259G>A	19.37:g.6471307C>T	ENSP00000370889:p.Arg420Gln					DENND1C_uc002mfb.2_5'UTR|DENND1C_uc002mfc.2_5'UTR|DENND1C_uc002mfd.2_5'UTR|DENND1C_uc010xje.1_Missense_Mutation_p.R376Q	p.R420Q	NM_024898	NP_079174	Q8IV53	DEN1C_HUMAN			17	1351	-			420					B4E051|D3PFD4|Q8NDB1|Q9H5Z2	Missense_Mutation	SNP	ENST00000381480.2	37	c.1259G>A	CCDS45938.1	.	.	.	.	.	.	.	.	.	.	C	10.98	1.505093	0.26949	.	.	ENSG00000205744	ENST00000381480;ENST00000543576	T;T	0.12255	2.87;2.7	5.0	3.96	0.45880	.	0.296034	0.27851	N	0.017597	T	0.09423	0.0232	L	0.41573	1.285	0.24401	N	0.994707	P	0.38335	0.627	B	0.28232	0.087	T	0.22591	-1.0212	10	0.59425	D	0.04	-15.7468	7.8924	0.29686	0.0:0.8091:0.0:0.1909	.	420	Q8IV53	DEN1C_HUMAN	Q	420;376	ENSP00000370889:R420Q;ENSP00000437805:R376Q	ENSP00000370889:R420Q	R	-	2	0	DENND1C	6422307	0.994000	0.37717	0.926000	0.36857	0.190000	0.23558	2.230000	0.42999	1.102000	0.41551	0.462000	0.41574	CGA		0.607	DENND1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453332.2	NM_024898		7	11	0	0	0	0	7	11				
COL5A3	50509	broad.mit.edu	37	19	10085036	10085036	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr19:10085036G>T	ENST00000264828.3	-	46	3476	c.3391C>A	c.(3391-3393)Cag>Aag	p.Q1131K		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	1131	Triple-helical region.				axon guidance (GO:0007411)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			TCTCCTTTCTGCCCAAAGAGG	0.607																																						uc002mmq.1		NA																	0				ovary(7)|lung(1)|central_nervous_system(1)|skin(1)	10						c.(3391-3393)CAG>AAG		collagen, type V, alpha 3 preproprotein							54.0	57.0	56.0					19																	10085036		2203	4300	6503	SO:0001583	missense	50509				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent	g.chr19:10085036G>T	AF177941	CCDS12222.1	19p13.2	2013-01-16			ENSG00000080573	ENSG00000080573		"""Collagens"""	14864	protein-coding gene	gene with protein product		120216				10722718	Standard	NM_015719		Approved		uc002mmq.1	P25940	OTTHUMG00000150019	ENST00000264828.3:c.3391C>A	19.37:g.10085036G>T	ENSP00000264828:p.Gln1131Lys						p.Q1131K	NM_015719	NP_056534	P25940	CO5A3_HUMAN	Epithelial(33;7.11e-05)		46	3477	-			1131			Triple-helical region.		Q9NZQ6	Missense_Mutation	SNP	ENST00000264828.3	37	c.3391C>A	CCDS12222.1	.	.	.	.	.	.	.	.	.	.	G	13.90	2.374736	0.42105	.	.	ENSG00000080573	ENST00000264828	D	0.94138	-3.36	4.89	4.89	0.63831	.	0.269718	0.30011	N	0.010630	D	0.90235	0.6947	N	0.10972	0.075	0.26536	N	0.974173	D	0.54207	0.965	P	0.58172	0.834	T	0.81797	-0.0768	10	0.11485	T	0.65	.	15.5331	0.75980	0.0:0.0:1.0:0.0	.	1131	P25940	CO5A3_HUMAN	K	1131	ENSP00000264828:Q1131K	ENSP00000264828:Q1131K	Q	-	1	0	COL5A3	9946036	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	3.663000	0.54518	2.246000	0.74042	0.313000	0.20887	CAG		0.607	COL5A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315788.1	NM_015719		14	38	1	0	1.5e-05	1.55e-05	14	38				
P2RY11	5032	broad.mit.edu	37	19	10226446	10226446	+	IGR	SNP	C	C	G			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr19:10226446C>G	ENST00000321826.4	+	0	1943				EIF3G_ENST00000253108.4_Missense_Mutation_p.E252Q	NM_002566.4	NP_002557.2	Q96G91	P2Y11_HUMAN	purinergic receptor P2Y, G-protein coupled, 11						activation of adenylate cyclase activity (GO:0007190)|adenosine receptor signaling pathway (GO:0001973)|calcium-mediated signaling (GO:0019722)|cellular response to ATP (GO:0071318)|defense response (GO:0006952)|G-protein coupled receptor signaling pathway (GO:0007186)|neuronal signal transduction (GO:0023041)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP-activated nucleotide receptor activity (GO:0045031)|G-protein coupled purinergic nucleotide receptor activity (GO:0045028)|neurotransmitter receptor activity (GO:0030594)|receptor activity (GO:0004872)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(2)	16			OV - Ovarian serous cystadenocarcinoma(20;3.53e-09)|Epithelial(33;4.91e-06)|all cancers(31;1.1e-05)			AGGTCGGTCTCACGCGTGTCC	0.637																																						uc002mnd.2		NA																	0					0						c.(754-756)GAG>CAG		eukaryotic translation initiation factor 3,							152.0	137.0	142.0					19																	10226446		2203	4300	6503	SO:0001628	intergenic_variant	8666					cytosol|eukaryotic translation initiation factor 3 complex|nucleus|perinuclear region of cytoplasm	nucleotide binding|protein binding|translation initiation factor activity	g.chr19:10226446C>G	AF030335	CCDS12226.1	19p13.2	2012-08-08			ENSG00000244165	ENSG00000244165		"""Purinergic receptors"", ""GPCR / Class A : Purinergic receptors, P2Y"""	8540	protein-coding gene	gene with protein product		602697				9405388	Standard	NM_002566		Approved	P2Y11		Q96G91	OTTHUMG00000150166		19.37:g.10226446C>G							p.E252Q	NM_003755	NP_003746	O75821	EIF3G_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;3.53e-09)|Epithelial(33;4.91e-06)|all cancers(31;1.1e-05)		9	818	-			252			RRM.		B2R8X9|O43190|Q9BYU4|Q9H170	Missense_Mutation	SNP	ENST00000321826.4	37	c.754G>C	CCDS12226.1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.705848	0.89018	.	.	ENSG00000130811	ENST00000253108	T	0.21361	2.01	4.43	4.43	0.53597	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.45895	0.1365	M	0.70842	2.15	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	T	0.48043	-0.9069	10	0.62326	D	0.03	-36.3163	15.9642	0.79952	0.0:1.0:0.0:0.0	.	252	O75821	EIF3G_HUMAN	Q	252	ENSP00000253108:E252Q	ENSP00000253108:E252Q	E	-	1	0	EIF3G	10087446	1.000000	0.71417	0.935000	0.37517	0.942000	0.58702	7.166000	0.77553	2.287000	0.76781	0.561000	0.74099	GAG		0.637	P2RY11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316664.2	NM_002566		44	87	0	0	0	0	44	87				
ICAM1	3383	broad.mit.edu	37	19	10395703	10395703	+	Splice_Site	SNP	C	C	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr19:10395703C>T	ENST00000264832.3	+	6	1750	c.1425C>T	c.(1423-1425)ctC>ctT	p.L475L	ICAM4_ENST00000393717.2_5'Flank|CTD-2369P2.5_ENST00000592893.1_RNA|ICAM4_ENST00000380770.3_5'Flank|ICAM4_ENST00000340992.4_5'Flank|CTD-2369P2.8_ENST00000589379.1_RNA|ICAM1_ENST00000423829.2_Splice_Site_p.L253L	NM_000201.2	NP_000192.2	P05362	ICAM1_HUMAN	intercellular adhesion molecule 1	475					adhesion of symbiont to host (GO:0044406)|cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell aging (GO:0007569)|cellular response to alkaloid (GO:0071312)|cellular response to glucose stimulus (GO:0071333)|cellular response to hypoxia (GO:0071456)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to nutrient levels (GO:0031669)|cellular response to tumor necrosis factor (GO:0071356)|cytokine-mediated signaling pathway (GO:0019221)|establishment of endothelial barrier (GO:0061028)|extracellular matrix organization (GO:0030198)|heterophilic cell-cell adhesion (GO:0007157)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|membrane to membrane docking (GO:0022614)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|ovarian follicle development (GO:0001541)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cellular extravasation (GO:0002693)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of vasoconstriction (GO:0045907)|receptor-mediated virion attachment to host cell (GO:0046813)|regulation of cell adhesion (GO:0030155)|regulation of cell shape (GO:0008360)|regulation of immune response (GO:0050776)|regulation of leukocyte mediated cytotoxicity (GO:0001910)|regulation of ruffle assembly (GO:1900027)|response to amino acid (GO:0043200)|response to amphetamine (GO:0001975)|response to copper ion (GO:0046688)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to gonadotropin (GO:0034698)|response to ionizing radiation (GO:0010212)|response to organic cyclic compound (GO:0014070)|response to sulfur dioxide (GO:0010477)|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:0002291)|T cell antigen processing and presentation (GO:0002457)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|immunological synapse (GO:0001772)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)|virus receptor activity (GO:0001618)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;2.81e-06)|all cancers(31;6.56e-06)		Hyaluronan(DB08818)|Natalizumab(DB00108)	TGAATGTGCTCTGTGAGTGAG	0.622																																						uc002mnq.2		NA																	0				ovary(1)	1						c.(1423-1425)CTC>CTT		intercellular adhesion molecule 1 precursor	Natalizumab(DB00108)|Simvastatin(DB00641)						59.0	60.0	60.0					19																	10395703		2203	4300	6503	SO:0001630	splice_region_variant	3383				adhesion to symbiont|heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|membrane to membrane docking|positive regulation of cellular extravasation|regulation of immune response|regulation of leukocyte mediated cytotoxicity|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell|virion attachment, binding of host cell surface receptor	extracellular space|integral to plasma membrane	integrin binding|transmembrane receptor activity	g.chr19:10395703C>T		CCDS12231.1	19p13.3-p13.2	2014-01-30	2008-07-18			ENSG00000090339		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Endogenous ligands"""	5344	protein-coding gene	gene with protein product	"""human rhinovirus receptor"""	147840				2453850, 3871395	Standard	NM_000201		Approved	BB2, CD54	uc002mnq.2	P05362		ENST00000264832.3:c.1426+1C>T	19.37:g.10395703C>T						ICAM1_uc010xle.1_Silent_p.L253L|ICAM4_uc002mnr.1_5'Flank|ICAM4_uc002mns.1_5'Flank|ICAM4_uc002mnt.1_5'Flank	p.L475L	NM_000201	NP_000192	P05362	ICAM1_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;2.81e-06)|all cancers(31;6.56e-06)		6	1744	+			475			Extracellular (Potential).		B2R6M3|Q5NKV7|Q96B50	Silent	SNP	ENST00000264832.3	37	c.1425C>T	CCDS12231.1																																																																																				0.622	ICAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451207.1		Silent	15	37	0	0	0	0	15	37				
ICAM5	7087	broad.mit.edu	37	19	10402810	10402810	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr19:10402810C>T	ENST00000221980.4	+	4	836	c.773C>T	c.(772-774)tCa>tTa	p.S258L		NM_003259.3	NP_003250.3	Q9UMF0	ICAM5_HUMAN	intercellular adhesion molecule 5, telencephalin	258	Ig-like C2-type 3.				phagocytosis (GO:0006909)|single organismal cell-cell adhesion (GO:0016337)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06)			TTTCCAGCCTCAGAGGCCAGG	0.647																																						uc002mnu.3		NA																	0				breast(3)	3						c.(772-774)TCA>TTA		intercellular adhesion molecule 5 precursor							71.0	68.0	69.0					19																	10402810		2203	4299	6502	SO:0001583	missense	7087				cell-cell adhesion	integral to plasma membrane		g.chr19:10402810C>T	U72671	CCDS12233.1	19p13.2	2013-01-14				ENSG00000105376		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5348	protein-coding gene	gene with protein product	"""telencephalin"""	601852		TLCN		8995416, 9828136	Standard	NM_003259		Approved	TLN	uc002mnu.4	Q9UMF0		ENST00000221980.4:c.773C>T	19.37:g.10402810C>T	ENSP00000221980:p.Ser258Leu					ICAM5_uc002mnv.3_Missense_Mutation_p.S133L	p.S258L	NM_003259	NP_003250	Q9UMF0	ICAM5_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06)		4	838	+			258			Extracellular (Potential).|Ig-like C2-type 3.		Q9Y6F3	Missense_Mutation	SNP	ENST00000221980.4	37	c.773C>T	CCDS12233.1	.	.	.	.	.	.	.	.	.	.	C	13.64	2.298528	0.40694	.	.	ENSG00000105376	ENST00000221980	T	0.03717	3.83	5.52	2.08	0.27032	Immunoglobulin-like fold (1);	0.956363	0.08652	N	0.913892	T	0.06645	0.0170	M	0.73598	2.24	0.09310	N	1	B	0.14438	0.01	B	0.11329	0.006	T	0.27606	-1.0069	10	0.39692	T	0.17	-4.3613	7.6782	0.28499	0.1849:0.4998:0.3153:0.0	.	258	Q9UMF0	ICAM5_HUMAN	L	258	ENSP00000221980:S258L	ENSP00000221980:S258L	S	+	2	0	ICAM5	10263810	0.010000	0.17322	0.839000	0.33178	0.405000	0.30901	0.520000	0.22878	1.346000	0.45694	0.472000	0.43445	TCA		0.647	ICAM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451217.1	NM_003259		6	111	0	0	0	0	6	111				
DOCK6	57572	broad.mit.edu	37	19	11354276	11354276	+	Silent	SNP	C	C	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr19:11354276C>T	ENST00000294618.7	-	11	1226	c.1215G>A	c.(1213-1215)gtG>gtA	p.V405V		NM_020812.3	NP_065863.2	Q96HP0	DOCK6_HUMAN	dedicator of cytokinesis 6	405					blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	39						CAGCGCTGCTCACGATGTTGG	0.692											OREG0025252	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002mqs.3		NA																	0				ovary(2)|skin(1)	3						c.(1213-1215)GTG>GTA		dedicator of cytokinesis 6							21.0	28.0	25.0					19																	11354276		2181	4285	6466	SO:0001819	synonymous_variant	57572				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr19:11354276C>T		CCDS45975.1	19p13.2	2011-08-04			ENSG00000130158	ENSG00000130158			19189	protein-coding gene	gene with protein product		614194				12432077	Standard	NM_020812		Approved	KIAA1395, ZIR1	uc002mqs.5	Q96HP0		ENST00000294618.7:c.1215G>A	19.37:g.11354276C>T			OREG0025252	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	671		p.V405V	NM_020812	NP_065863	Q96HP0	DOCK6_HUMAN			11	1256	-			405					A6H8X5|Q7Z7P4|Q9P2F2	Silent	SNP	ENST00000294618.7	37	c.1215G>A	CCDS45975.1																																																																																				0.692	DOCK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453155.1	NM_020812		5	17	0	0	0	0	5	17				
ZNF625	90589	broad.mit.edu	37	19	12256165	12256165	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr19:12256165C>T	ENST00000355738.1	-	4	1217	c.868G>A	c.(868-870)Gaa>Aaa	p.E290K	CTC-359D24.3_ENST00000472362.1_RNA|ZNF625_ENST00000455799.1_3'UTR|ZNF625-ZNF20_ENST00000430024.1_Intron|ZNF625_ENST00000439556.2_Missense_Mutation_p.E356K|ZNF625_ENST00000542938.1_Missense_Mutation_p.E290K			Q96I27	ZN625_HUMAN	zinc finger protein 625	290					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|kidney(1)|large_intestine(6)|lung(4)|skin(2)	14						CAGGGTTTTTCTCCAGTGTGA	0.428																																						uc002mth.2		NA																	0					0						c.(868-870)GAA>AAA		zinc finger protein 625							105.0	99.0	101.0					19																	12256165		2203	4300	6503	SO:0001583	missense	90589				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12256165C>T	BC007868	CCDS12269.1, CCDS12269.2	19p13.2	2013-01-08			ENSG00000257591	ENSG00000257591		"""Zinc fingers, C2H2-type"", ""-"""	30571	protein-coding gene	gene with protein product						12477932	Standard	NM_145233		Approved		uc010dyo.2	Q96I27	OTTHUMG00000156407	ENST00000355738.1:c.868G>A	19.37:g.12256165C>T	ENSP00000347977:p.Glu290Lys					ZNF20_uc002mtg.1_Intron|ZNF625_uc010dyn.1_RNA|ZNF625_uc010dyo.1_Missense_Mutation_p.E324K	p.E290K	NM_145233	NP_660276	Q96I27	ZN625_HUMAN			4	1218	-			290					A4FU45|I3L0E9	Missense_Mutation	SNP	ENST00000355738.1	37	c.868G>A		.	.	.	.	.	.	.	.	.	.	C	17.07	3.295245	0.60086	.	.	ENSG00000257591	ENST00000542938;ENST00000355738;ENST00000439556	T;T;T	0.09911	2.93;2.93;2.93	1.13	1.13	0.20643	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.18173	0.0436	M	0.89478	3.035	0.31558	N	0.657841	D;B	0.64830	0.994;0.168	P;B	0.44561	0.453;0.027	T	0.33266	-0.9875	9	0.72032	D	0.01	.	5.6135	0.17418	0.0:1.0:0.0:0.0	.	290;290	A8K8U0;Q96I27	.;ZN625_HUMAN	K	290;290;356	ENSP00000438436:E290K;ENSP00000347977:E290K;ENSP00000394380:E356K	ENSP00000347977:E290K	E	-	1	0	AC022415.5	12117165	0.885000	0.30320	0.972000	0.41901	0.664000	0.39144	2.748000	0.47483	0.933000	0.37291	0.313000	0.20887	GAA		0.428	ZNF625-201	KNOWN	basic	protein_coding	protein_coding		NM_145233		39	72	0	0	0	0	39	72				
TRMT1	55621	broad.mit.edu	37	19	13226280	13226280	+	Splice_Site	SNP	C	C	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr19:13226280C>T	ENST00000592062.1	-	6	1024	c.454G>A	c.(454-456)Gaa>Aaa	p.E152K	TRMT1_ENST00000221504.8_Splice_Site_p.E152K|NACC1_ENST00000292431.4_5'Flank|TRMT1_ENST00000357720.4_Splice_Site_p.E152K|TRMT1_ENST00000592892.1_5'Flank|TRMT1_ENST00000437766.1_Splice_Site_p.E152K			Q9NXH9	TRM1_HUMAN	tRNA methyltransferase 1 homolog (S. cerevisiae)	152	Trm1 methyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00958}.						metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|tRNA (guanine-N2-)-methyltransferase activity (GO:0004809)|tRNA binding (GO:0000049)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(19;6.08e-22)	GBM - Glioblastoma multiforme(1328;0.0356)		TGCAGGCCTTCCTGTTGGAGT	0.587																																						uc002mwj.2		NA																	0				ovary(1)|pancreas(1)	2						c.(454-456)GAA>AAA		tRNA methyltransferase 1 isoform 1							58.0	48.0	52.0					19																	13226280		2203	4300	6503	SO:0001630	splice_region_variant	55621						RNA binding|tRNA (guanine-N2-)-methyltransferase activity|zinc ion binding	g.chr19:13226280C>T	AF196479	CCDS12293.1, CCDS45997.1	19p13.13	2012-06-12	2012-06-12						25980	protein-coding gene	gene with protein product		611669				10982862	Standard	NM_001142554		Approved	FLJ20244, TRM1	uc002mwl.3	Q9NXH9		ENST00000592062.1:c.454-1G>A	19.37:g.13226280C>T						NACC1_uc002mwm.2_5'Flank|TRMT1_uc002mwk.2_Missense_Mutation_p.E152K|TRMT1_uc002mwl.3_Missense_Mutation_p.E152K|TRMT1_uc010xmz.1_5'UTR	p.E152K	NM_017722	NP_060192	Q9NXH9	TRM1_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;6.08e-22)	GBM - Glioblastoma multiforme(1328;0.0356)	4	704	-			152					O76103|Q548Y5|Q8WVA6	Missense_Mutation	SNP	ENST00000592062.1	37	c.454G>A	CCDS12293.1	.	.	.	.	.	.	.	.	.	.	C	12.70	2.017100	0.35606	.	.	ENSG00000104907	ENST00000357720;ENST00000437766;ENST00000221504	.	.	.	4.57	4.57	0.56435	.	0.237648	0.35207	N	0.003366	T	0.37128	0.0992	N	0.11651	0.15	0.46028	D	0.998825	B;B	0.16166	0.004;0.016	B;B	0.18263	0.012;0.021	T	0.19160	-1.0314	9	0.15066	T	0.55	-8.2575	14.8852	0.70564	0.0:1.0:0.0:0.0	.	152;152	Q9NXH9-2;Q9NXH9	.;TRM1_HUMAN	K	152	.	ENSP00000221504:E152K	E	-	1	0	TRMT1	13087280	1.000000	0.71417	0.994000	0.49952	0.816000	0.46133	2.685000	0.46959	2.355000	0.79922	0.563000	0.77884	GAA		0.587	TRMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452780.2	NM_017722	Missense_Mutation	8	29	0	0	0	0	8	29				
OR10H4	126541	broad.mit.edu	37	19	16060070	16060070	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr19:16060070G>A	ENST00000322107.1	+	1	253	c.253G>A	c.(253-255)Gat>Aat	p.D85N		NM_001004465.1	NP_001004465.1	Q8NGA5	O10H4_HUMAN	olfactory receptor, family 10, subfamily H, member 4	85						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	17						CATGCTGGCTGATCTGCTTTC	0.507																																						uc010xov.1		NA																	0				ovary(1)|breast(1)	2						c.(253-255)GAT>AAT		olfactory receptor, family 10, subfamily H,							503.0	441.0	462.0					19																	16060070		2203	4300	6503	SO:0001583	missense	126541				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:16060070G>A	AC011517	CCDS32941.1	19p13.12	2013-09-24			ENSG00000176231	ENSG00000176231		"""GPCR / Class A : Olfactory receptors"""	15388	protein-coding gene	gene with protein product							Standard	NM_001004465		Approved		uc010xov.2	Q8NGA5	OTTHUMG00000182268	ENST00000322107.1:c.253G>A	19.37:g.16060070G>A	ENSP00000318834:p.Asp85Asn						p.D85N	NM_001004465	NP_001004465	Q8NGA5	O10H4_HUMAN			1	253	+			85			Extracellular (Potential).		Q6IFJ2|Q96R57	Missense_Mutation	SNP	ENST00000322107.1	37	c.253G>A	CCDS32941.1	.	.	.	.	.	.	.	.	.	.	g	1.026	-0.683217	0.03353	.	.	ENSG00000176231	ENST00000322107	T	0.02974	4.09	1.53	0.441	0.16577	GPCR, rhodopsin-like superfamily (1);	0.402757	0.17790	U	0.161919	T	0.01489	0.0048	N	0.17564	0.495	0.09310	N	1	P	0.36282	0.546	B	0.37239	0.244	T	0.39210	-0.9625	10	0.02654	T	1	.	5.4472	0.16541	0.2191:0.0:0.7809:0.0	.	85	Q8NGA5	O10H4_HUMAN	N	85	ENSP00000318834:D85N	ENSP00000318834:D85N	D	+	1	0	OR10H4	15921070	0.000000	0.05858	0.110000	0.21437	0.093000	0.18481	-0.406000	0.07187	0.828000	0.34709	0.471000	0.43371	GAT		0.507	OR10H4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460311.1			6	349	0	0	0	0	6	349				
ZNF486	90649	broad.mit.edu	37	19	20307969	20307969	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr19:20307969G>C	ENST00000335117.8	+	4	507	c.450G>C	c.(448-450)caG>caC	p.Q150H	CTC-260E6.6_ENST00000586657.1_RNA|CTC-260E6.6_ENST00000585498.1_RNA|CTC-260E6.6_ENST00000593655.1_RNA	NM_052852.3	NP_443084.2	Q96H40	ZN486_HUMAN	zinc finger protein 486	150					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	11						CAACTACCCAGAGCAAAATAT	0.303																																						uc002nou.2		NA																	0				ovary(1)	1						c.(448-450)CAG>CAC		zinc finger protein 486							64.0	69.0	68.0					19																	20307969		2186	4291	6477	SO:0001583	missense	90649				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:20307969G>C	BC008936	CCDS46029.1	19p12	2014-02-13	2003-12-16	2003-12-17	ENSG00000256229	ENSG00000256229		"""Zinc fingers, C2H2-type"", ""-"""	20807	protein-coding gene	gene with protein product			"""KRAB domain only 2"""	KRBO2			Standard	NM_052852		Approved	MGC2396	uc002nou.3	Q96H40	OTTHUMG00000179731	ENST00000335117.8:c.450G>C	19.37:g.20307969G>C	ENSP00000335042:p.Gln150His						p.Q150H	NM_052852	NP_443084	Q96H40	ZN486_HUMAN			4	507	+			150					Q0VG00	Missense_Mutation	SNP	ENST00000335117.8	37	c.450G>C	CCDS46029.1	.	.	.	.	.	.	.	.	.	.	g	3.942	-0.014062	0.07681	.	.	ENSG00000256229	ENST00000545779;ENST00000335117	T	0.35973	1.28	0.149	-0.298	0.12814	.	.	.	.	.	T	0.21801	0.0525	L	0.35249	1.045	0.18873	N	0.999989	B	0.25351	0.124	B	0.24269	0.052	T	0.21042	-1.0257	8	0.38643	T	0.18	.	.	.	.	.	150	Q96H40	ZN486_HUMAN	H	189;150	ENSP00000335042:Q150H	ENSP00000335042:Q150H	Q	+	3	2	ZNF486	20168969	0.710000	0.27896	0.017000	0.16124	0.017000	0.09413	0.947000	0.29082	-1.112000	0.02984	-1.112000	0.02068	CAG		0.303	ZNF486-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447843.2	NM_052852		33	95	0	0	0	0	33	95				
ZNF91	7644	broad.mit.edu	37	19	23544945	23544945	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr19:23544945G>A	ENST00000300619.7	-	4	1041	c.836C>T	c.(835-837)tCa>tTa	p.S279L	ZNF91_ENST00000599743.1_Intron|ZNF91_ENST00000397082.2_Missense_Mutation_p.S247L	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91	279					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)						all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				AGTTAGGGTTGAGGACCATAG	0.388																																						uc002nre.2		NA																	0					0						c.(835-837)TCA>TTA		zinc finger protein 91							104.0	112.0	109.0					19																	23544945		2193	4296	6489	SO:0001583	missense	7644					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:23544945G>A	M61871	CCDS42541.1, CCDS74322.1	19p12	2014-02-04	2006-05-12		ENSG00000167232	ENSG00000167232		"""Zinc fingers, C2H2-type"", ""-"""	13166	protein-coding gene	gene with protein product		603971	"""zinc finger protein 91 (HPF7, HTF10)"""			2023909, 2505992	Standard	XR_430154		Approved	HPF7, HTF10	uc002nre.3	Q05481	OTTHUMG00000183268	ENST00000300619.7:c.836C>T	19.37:g.23544945G>A	ENSP00000300619:p.Ser279Leu					ZNF91_uc010xrj.1_Missense_Mutation_p.S247L	p.S279L	NM_003430	NP_003421	Q05481	ZNF91_HUMAN			4	949	-		all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)	279			C2H2-type 5.		A8K5E1|B7Z6G6	Missense_Mutation	SNP	ENST00000300619.7	37	c.836C>T	CCDS42541.1	.	.	.	.	.	.	.	.	.	.	G	7.848	0.723370	0.15439	.	.	ENSG00000167232	ENST00000300619;ENST00000397082	T;T	0.07444	3.19;3.19	1.06	1.06	0.20224	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.20088	0.0483	L	0.58810	1.83	0.19300	N	0.99998	P;D	0.69078	0.597;0.997	P;D	0.71870	0.504;0.975	T	0.05084	-1.0907	9	0.62326	D	0.03	.	7.6328	0.28249	0.0:0.0:1.0:0.0	.	247;279	Q05481-2;Q05481	.;ZNF91_HUMAN	L	279;247	ENSP00000300619:S279L;ENSP00000380272:S247L	ENSP00000300619:S279L	S	-	2	0	ZNF91	23336785	0.000000	0.05858	0.119000	0.21687	0.033000	0.12548	0.176000	0.16782	0.884000	0.36064	0.162000	0.16502	TCA		0.388	ZNF91-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465891.1	NM_003430		11	83	0	0	0	0	11	83				
CATSPERG	57828	broad.mit.edu	37	19	38853162	38853162	+	Silent	SNP	C	C	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr19:38853162C>T	ENST00000409235.3	+	19	2419	c.2304C>T	c.(2302-2304)ttC>ttT	p.F768F	AC005625.1_ENST00000590304.1_RNA|CATSPERG_ENST00000410018.1_Silent_p.F728F|CATSPERG_ENST00000215069.4_3'UTR	NM_021185.4	NP_067008.3	Q6ZRH7	CTSRG_HUMAN	catsper channel auxiliary subunit gamma	768					cell differentiation (GO:0030154)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|plasma membrane (GO:0005886)|sperm principal piece (GO:0097228)				breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|pancreas(2)|prostate(6)|skin(3)|stomach(1)|urinary_tract(2)	40						AGTACAGCTTCGCCATCTTCC	0.612																																						uc002oih.3		NA																	0		p.S768F(1)		ovary(1)|skin(1)	2						c.(2302-2304)TTC>TTT		cation channel, sperm-associated, gamma							57.0	54.0	55.0					19																	38853162		2203	4300	6503	SO:0001819	synonymous_variant	57828				cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane		g.chr19:38853162C>T	AK128220	CCDS12514.2	19q13.1	2014-05-13	2012-02-22	2009-07-17	ENSG00000099338	ENSG00000099338			25243	protein-coding gene	gene with protein product		613452	"""chromosome 19 open reading frame 15"", ""cation channel, sperm-associated, gamma"""	C19orf15		19516020	Standard	NM_021185		Approved	DKFZp434A1022, FLJ46353	uc002oih.4	Q6ZRH7	OTTHUMG00000153223	ENST00000409235.3:c.2304C>T	19.37:g.38853162C>T						CATSPERG_uc002oig.3_Silent_p.F728F|CATSPERG_uc002oif.3_Silent_p.F408F|CATSPERG_uc010efw.2_RNA	p.F768F	NM_021185	NP_067008	Q6ZRH7	CTSRG_HUMAN			19	2391	+			768			Extracellular (Potential).		A6NEG6|Q659E1	Silent	SNP	ENST00000409235.3	37	c.2304C>T	CCDS12514.2																																																																																				0.612	CATSPERG-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000330204.1	NM_021185		9	54	0	0	0	0	9	54				
FCGBP	8857	broad.mit.edu	37	19	40368869	40368869	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr19:40368869C>T	ENST00000221347.6	-	28	12486	c.12479G>A	c.(12478-12480)gGt>gAt	p.G4160D		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	4160	VWFD 10. {ECO:0000255|PROSITE- ProRule:PRU00580}.					extracellular vesicular exosome (GO:0070062)				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			TGTGAGCACACCGTTCACCTG	0.637																																						uc002omp.3		NA																	0				ovary(4)|skin(4)|central_nervous_system(1)	9						c.(12478-12480)GGT>GAT		Fc fragment of IgG binding protein precursor							117.0	115.0	116.0					19																	40368869		2203	4299	6502	SO:0001583	missense	8857					extracellular region	protein binding	g.chr19:40368869C>T	D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"""IgG Fc binding protein"", ""Human Fc gamma BP"""					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.12479G>A	19.37:g.40368869C>T	ENSP00000221347:p.Gly4160Asp						p.G4160D	NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)		28	12487	-	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		4160			VWFD 10.		O95784	Missense_Mutation	SNP	ENST00000221347.6	37	c.12479G>A	CCDS12546.1	.	.	.	.	.	.	.	.	.	.	C	12.95	2.092266	0.36952	.	.	ENSG00000090920	ENST00000221347	T	0.61980	0.06	3.96	0.563	0.17296	von Willebrand factor, type D domain (3);	.	.	.	.	T	0.50343	0.1610	L	0.48986	1.54	0.09310	N	1	B	0.14438	0.01	B	0.16289	0.015	T	0.35748	-0.9776	9	0.24483	T	0.36	.	6.8707	0.24119	0.0:0.4828:0.0:0.5172	.	4160	Q9Y6R7	FCGBP_HUMAN	D	4160	ENSP00000221347:G4160D	ENSP00000221347:G4160D	G	-	2	0	FCGBP	45060709	0.000000	0.05858	0.003000	0.11579	0.020000	0.10135	-0.828000	0.04419	0.106000	0.17784	0.305000	0.20034	GGT		0.637	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890		25	217	0	0	0	0	25	217				
GSK3A	2931	broad.mit.edu	37	19	42737444	42737444	+	Silent	SNP	G	G	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr19:42737444G>A	ENST00000222330.3	-	7	1123	c.996C>T	c.(994-996)atC>atT	p.I332I	GSK3A_ENST00000398249.4_Silent_p.I250I	NM_019884.2	NP_063937.2	P49840	GSK3A_HUMAN	glycogen synthase kinase 3 alpha	332	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cardiac left ventricle morphogenesis (GO:0003214)|cell migration (GO:0016477)|cellular protein metabolic process (GO:0044267)|cellular response to insulin stimulus (GO:0032869)|cellular response to interleukin-3 (GO:0036016)|cellular response to lithium ion (GO:0071285)|cellular response to organic cyclic compound (GO:0071407)|endoplasmic reticulum unfolded protein response (GO:0030968)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glycogen metabolic process (GO:0005977)|hypermethylation of CpG island (GO:0044027)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell growth involved in cardiac muscle cell development (GO:0061052)|negative regulation of glucose import (GO:0046325)|negative regulation of glycogen (starch) synthase activity (GO:2000466)|negative regulation of glycogen biosynthetic process (GO:0045719)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of TOR signaling (GO:0032007)|negative regulation of transferase activity (GO:0051348)|negative regulation of type B pancreatic cell development (GO:2000077)|negative regulation of UDP-glucose catabolic process (GO:0010905)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of adrenergic receptor signaling pathway (GO:0071879)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of glycogen (starch) synthase activity (GO:2000467)|positive regulation of heart contraction (GO:0045823)|positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901030)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein phosphorylation (GO:0006468)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of systemic arterial blood pressure (GO:0003073)|Wnt signaling pathway (GO:0016055)	beta-catenin destruction complex (GO:0030877)|cytosol (GO:0005829)	ATP binding (GO:0005524)|protein kinase A catalytic subunit binding (GO:0034236)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)			endometrium(3)|large_intestine(3)|lung(6)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	19		Prostate(69;0.00682)				TCACCTTGATGATCTCCACCA	0.642																																						uc002otb.1		NA																	0				ovary(2)|lung(2)	4						c.(994-996)ATC>ATT		glycogen synthase kinase 3 alpha							18.0	16.0	17.0					19																	42737444		2201	4297	6498	SO:0001819	synonymous_variant	2931				insulin receptor signaling pathway|negative regulation of glucose import|negative regulation of insulin receptor signaling pathway|negative regulation of transferase activity|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of protein catabolic process	beta-catenin destruction complex|cytosol	ATP binding|protein kinase A catalytic subunit binding|protein serine/threonine kinase activity|tau-protein kinase activity	g.chr19:42737444G>A		CCDS12599.1	19q13	2008-02-15			ENSG00000105723	ENSG00000105723			4616	protein-coding gene	gene with protein product		606784				9809441	Standard	NM_019884		Approved		uc002otb.1	P49840	OTTHUMG00000150722	ENST00000222330.3:c.996C>T	19.37:g.42737444G>A						GSK3A_uc002ota.1_Silent_p.I250I|GSK3A_uc002otc.2_RNA	p.I332I	NM_019884	NP_063937	P49840	GSK3A_HUMAN			7	1115	-		Prostate(69;0.00682)	332			Protein kinase.		O14959	Silent	SNP	ENST00000222330.3	37	c.996C>T	CCDS12599.1																																																																																				0.642	GSK3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319782.1			4	10	0	0	0	0	4	10				
GEMIN7	79760	broad.mit.edu	37	19	45593559	45593559	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr19:45593559C>T	ENST00000270257.4	+	3	434	c.187C>T	c.(187-189)Cgg>Tgg	p.R63W	CTB-179K24.3_ENST00000586556.1_RNA|PPP1R37_ENST00000221462.4_5'Flank|GEMIN7_ENST00000591607.1_Missense_Mutation_p.R63W|PPP1R37_ENST00000421905.1_5'Flank|GEMIN7_ENST00000391951.2_Missense_Mutation_p.R63W|CTB-179K24.3_ENST00000586744.1_RNA|GEMIN7_ENST00000591747.1_Missense_Mutation_p.R63W	NM_001007269.1|NM_001007270.1|NM_024707.2	NP_001007270.1|NP_001007271.1|NP_078983.1	Q9H840	GEMI7_HUMAN	gem (nuclear organelle) associated protein 7	63					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|ncRNA metabolic process (GO:0034660)|RNA metabolic process (GO:0016070)|spliceosomal snRNP assembly (GO:0000387)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)				endometrium(1)|kidney(1)|lung(4)|ovary(1)	7		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0131)		AGCCGCCCTTCGGGAGCGTTA	0.632																																						uc002pap.1		NA																	0				ovary(1)	1						c.(187-189)CGG>TGG		gemin 7							37.0	37.0	37.0					19																	45593559		2203	4300	6503	SO:0001583	missense	79760				ncRNA metabolic process|spliceosomal snRNP assembly	Cajal body|cytosol|spliceosomal complex	protein binding	g.chr19:45593559C>T	AK024018	CCDS12654.1	19q13.32	2008-02-05				ENSG00000142252			20045	protein-coding gene	gene with protein product		607419				12065586	Standard	NM_024707		Approved	FLJ13956	uc002pap.1	Q9H840		ENST00000270257.4:c.187C>T	19.37:g.45593559C>T	ENSP00000270257:p.Arg63Trp					uc002pas.2_5'Flank|GEMIN7_uc002paq.1_Missense_Mutation_p.R63W|GEMIN7_uc002par.1_Missense_Mutation_p.R63W	p.R63W	NM_001007270	NP_001007271	Q9H840	GEMI7_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0131)	3	338	+		Ovarian(192;0.0728)|all_neural(266;0.112)	63					Q6IA34	Missense_Mutation	SNP	ENST00000270257.4	37	c.187C>T	CCDS12654.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.211238	0.79240	.	.	ENSG00000142252	ENST00000270257;ENST00000391951	.	.	.	5.06	5.06	0.68205	.	0.000000	0.85682	D	0.000000	T	0.80132	0.4567	M	0.79693	2.465	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.83231	-0.0063	9	0.87932	D	0	-17.0225	15.9162	0.79521	0.0:1.0:0.0:0.0	.	63	Q9H840	GEMI7_HUMAN	W	63	.	ENSP00000270257:R63W	R	+	1	2	GEMIN7	50285399	1.000000	0.71417	0.947000	0.38551	0.814000	0.46013	4.944000	0.63561	2.357000	0.79964	0.555000	0.69702	CGG		0.632	GEMIN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457533.1			4	57	0	0	0	0	4	57				
PPM1N	147699	broad.mit.edu	37	19	46002055	46002055	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr19:46002055C>G	ENST00000451287.2	+	1	325	c.325C>G	c.(325-327)Cga>Gga	p.R109G	RTN2_ENST00000590526.1_5'Flank|PPM1N_ENST00000396736.2_5'Flank|PPM1N_ENST00000401593.1_5'Flank|RTN2_ENST00000589384.1_5'Flank|RTN2_ENST00000245923.4_5'Flank|PPM1N_ENST00000401705.1_Intron|PPM1N_ENST00000396737.2_Intron|PPM1N_ENST00000456399.2_Intron|PPM1N_ENST00000396735.2_5'Flank|PPM1N_ENST00000324688.4_Missense_Mutation_p.R31G|RTN2_ENST00000344680.4_5'Flank	NM_001080401.1	NP_001073870.1	Q8N819	PPM1N_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1N (putative)	109	PP2C-like.						magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|phosphoprotein phosphatase activity (GO:0004721)			NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)	9						CGGTGGGGCTCGAGCTGCCCG	0.711																																						uc002pce.2		NA																	0					0						c.(325-327)CGA>GGA		protein phosphatase 1B-like							4.0	4.0	4.0					19																	46002055		1787	3728	5515	SO:0001583	missense	147699						magnesium ion binding|manganese ion binding|phosphoprotein phosphatase activity	g.chr19:46002055C>G	AK097444	CCDS46115.1	19q13.32	2012-04-17			ENSG00000213889	ENSG00000213889		"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	26845	protein-coding gene	gene with protein product							Standard	NM_001080401		Approved	FLJ40125	uc002pce.3	Q8N819	OTTHUMG00000140397	ENST00000451287.2:c.325C>G	19.37:g.46002055C>G	ENSP00000397050:p.Arg109Gly					RTN2_uc002pcb.2_5'Flank|RTN2_uc002pcc.2_5'Flank|RTN2_uc002pcd.2_5'Flank|PPM1N_uc002pcf.2_5'Flank	p.R109G	NM_001080401	NP_001073870	Q8N819	PPM1N_HUMAN			1	325	+			109			PP2C-like.		Q6P662	Missense_Mutation	SNP	ENST00000451287.2	37	c.325C>G	CCDS46115.1	.	.	.	.	.	.	.	.	.	.	C	10.69	1.420611	0.25639	.	.	ENSG00000213889	ENST00000451287;ENST00000396734;ENST00000324688	T;T	0.17528	2.27;2.27	3.7	2.65	0.31530	Protein phosphatase 2C-like (5);	0.385688	0.19953	U	0.102364	T	0.11153	0.0272	N	0.12637	0.245	0.09310	N	1	B	0.21753	0.06	B	0.30495	0.116	T	0.29397	-1.0013	10	0.59425	D	0.04	-3.6335	10.5085	0.44847	0.2067:0.7933:0.0:0.0	.	109	Q8N819	PPM1N_HUMAN	G	109;109;31	ENSP00000397050:R109G;ENSP00000321761:R31G	ENSP00000321761:R31G	R	+	1	2	PPM1N	50693895	0.000000	0.05858	0.038000	0.18304	0.888000	0.51559	-0.040000	0.12104	1.107000	0.41642	0.313000	0.20887	CGA		0.711	PPM1N-007	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326517.2	NM_001080401		2	3	0	0	0	0	2	3				
STRN4	29888	broad.mit.edu	37	19	47226133	47226133	+	Missense_Mutation	SNP	C	C	T	rs199734484	byFrequency	TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr19:47226133C>T	ENST00000263280.6	-	14	1889	c.1840G>A	c.(1840-1842)Gac>Aac	p.D614N	STRN4_ENST00000391910.3_Missense_Mutation_p.D621N|STRN4_ENST00000594357.2_5'Flank|STRN4_ENST00000539396.1_Missense_Mutation_p.D495N	NM_001039877.1|NM_013403.2	NP_001034966.1|NP_037535.2	Q9NRL3	STRN4_HUMAN	striatin, calmodulin binding protein 4	614						cell projection (GO:0042995)|cytoplasm (GO:0005737)|membrane (GO:0016020)	armadillo repeat domain binding (GO:0070016)|calmodulin binding (GO:0005516)|protein complex binding (GO:0032403)|protein phosphatase 2A binding (GO:0051721)			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000563)|all cancers(93;0.00138)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.035)		AAGACGGTGTCGCCAGAGCGG	0.637													C|||	5	0.000998403	0.0	0.0	5008	,	,		18612	0.005		0.0	False		,,,				2504	0.0					uc002pfl.2		NA																	0					0						c.(1840-1842)GAC>AAC		zinedin isoform 1							91.0	85.0	87.0					19																	47226133		2203	4300	6503	SO:0001583	missense	29888					cytoplasm|membrane	armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding	g.chr19:47226133C>T	AF212940	CCDS12690.1, CCDS42581.1	19q13.32	2013-01-10			ENSG00000090372	ENSG00000090372		"""WD repeat domain containing"""	15721	protein-coding gene	gene with protein product		614767				10748158	Standard	XM_006723171		Approved	zinedin, ZIN	uc002pfm.3	Q9NRL3		ENST00000263280.6:c.1840G>A	19.37:g.47226133C>T	ENSP00000263280:p.Asp614Asn					STRN4_uc002pfm.2_Missense_Mutation_p.D621N|STRN4_uc010xyf.1_RNA	p.D614N	NM_013403	NP_037535	Q9NRL3	STRN4_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000563)|all cancers(93;0.00138)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.035)	14	1873	-		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)	614			WD 4.		A0A024R0V2|B4DQH7|F8VYA6|Q8NE53	Missense_Mutation	SNP	ENST00000263280.6	37	c.1840G>A	CCDS12690.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	14.23	2.472569	0.43942	.	.	ENSG00000090372	ENST00000391910;ENST00000263280;ENST00000539396	T;T;T	0.80824	-1.42;-1.42;-1.42	5.56	3.43	0.39272	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.115109	0.64402	N	0.000018	T	0.70561	0.3238	N	0.21373	0.66	0.80722	D	1	P;B	0.50819	0.939;0.038	P;B	0.47603	0.551;0.001	T	0.64360	-0.6426	10	0.22706	T	0.39	-29.5638	9.8998	0.41340	0.0:0.8332:0.0:0.1668	.	621;614	F8VYA6;Q9NRL3	.;STRN4_HUMAN	N	621;614;495	ENSP00000375777:D621N;ENSP00000263280:D614N;ENSP00000440901:D495N	ENSP00000263280:D614N	D	-	1	0	STRN4	51917973	0.979000	0.34478	0.976000	0.42696	0.778000	0.44026	2.374000	0.44274	0.700000	0.31782	0.462000	0.41574	GAC		0.637	STRN4-001	KNOWN	NMD_exception|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000466607.2			29	99	0	0	0	0	29	99				
SLC1A5	6510	broad.mit.edu	37	19	47278850	47278850	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr19:47278850C>T	ENST00000542575.2	-	8	2171	c.1543G>A	c.(1543-1545)Gag>Aag	p.E515K	FKRP_ENST00000600646.1_Intron|SLC1A5_ENST00000594991.1_Missense_Mutation_p.E339K|SLC1A5_ENST00000412532.2_Missense_Mutation_p.E287K|SLC1A5_ENST00000434726.2_Missense_Mutation_p.E313K	NM_005628.2	NP_005619.1	Q15758	AAAT_HUMAN	solute carrier family 1 (neutral amino acid transporter), member 5	515					amino acid transport (GO:0006865)|extracellular amino acid transport (GO:0006860)|glutamine transport (GO:0006868)|ion transport (GO:0006811)|neutral amino acid transport (GO:0015804)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	L-glutamine transmembrane transporter activity (GO:0015186)|L-serine transmembrane transporter activity (GO:0015194)|neutral amino acid transmembrane transporter activity (GO:0015175)|receptor activity (GO:0004872)|sodium:dicarboxylate symporter activity (GO:0017153)|virus receptor activity (GO:0001618)			cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(2)|stomach(1)	13		all_epithelial(76;0.00314)|Ovarian(192;0.0798)|all_neural(266;0.107)		OV - Ovarian serous cystadenocarcinoma(262;0.000338)|all cancers(93;0.000882)|Epithelial(262;0.0211)|GBM - Glioblastoma multiforme(486;0.0341)	L-Asparagine(DB00174)|L-Glutamine(DB00130)	TTTCCTTCCTCAGTGGGGACT	0.582																																						uc002pfs.2		NA																	0					0						c.(1543-1545)GAG>AAG		solute carrier family 1 member 5 isoform 1	L-Asparagine(DB00174)|L-Glutamine(DB00130)						135.0	136.0	136.0					19																	47278850		2203	4300	6503	SO:0001583	missense	6510				cellular nitrogen compound metabolic process	integral to plasma membrane|melanosome|membrane fraction	neutral amino acid transmembrane transporter activity|protein binding|receptor activity|sodium:dicarboxylate symporter activity	g.chr19:47278850C>T	U53347	CCDS12692.1, CCDS46125.1, CCDS46126.1	19q13.32	2013-07-15			ENSG00000105281	ENSG00000105281		"""Solute carriers"""	10943	protein-coding gene	gene with protein product		109190		RDRC, M7V1		8702519, 10051606	Standard	NM_005628		Approved	AAAT, ASCT2	uc002pfs.3	Q15758	OTTHUMG00000183434	ENST00000542575.2:c.1543G>A	19.37:g.47278850C>T	ENSP00000444408:p.Glu515Lys					SLC1A5_uc010xyh.1_Missense_Mutation_p.E313K|SLC1A5_uc002pfq.2_Missense_Mutation_p.E339K|SLC1A5_uc002pfr.2_Missense_Mutation_p.E287K	p.E515K	NM_005628	NP_005619	Q15758	AAAT_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000338)|all cancers(93;0.000882)|Epithelial(262;0.0211)|GBM - Glioblastoma multiforme(486;0.0341)	8	2163	-		all_epithelial(76;0.00314)|Ovarian(192;0.0798)|all_neural(266;0.107)	515					A8K9H5|B4DR77|B4DWS4|B7ZB81|D0EYG6|E9PC01|O95720|Q96RL9|Q9BWQ3|Q9UNP2	Missense_Mutation	SNP	ENST00000542575.2	37	c.1543G>A	CCDS12692.1	.	.	.	.	.	.	.	.	.	.	-	18.62	3.663456	0.67700	.	.	ENSG00000105281	ENST00000542575;ENST00000434726;ENST00000412532;ENST00000306894	T;T;T	0.64803	0.67;-0.12;-0.1	4.56	4.56	0.56223	.	0.394341	0.25261	N	0.031946	T	0.57695	0.2071	L	0.58101	1.795	0.36221	D	0.852029	P;P;P	0.38048	0.616;0.474;0.474	B;B;B	0.35278	0.199;0.15;0.15	T	0.68697	-0.5340	10	0.44086	T	0.13	-21.3655	14.7362	0.69416	0.0:1.0:0.0:0.0	.	313;515;515	E9PC01;Q15758;Q71UA6	.;AAAT_HUMAN;.	K	515;313;287;522	ENSP00000444408:E515K;ENSP00000406532:E313K;ENSP00000397924:E287K	ENSP00000303623:E522K	E	-	1	0	SLC1A5	51970690	1.000000	0.71417	0.925000	0.36789	0.707000	0.40811	5.568000	0.67385	2.547000	0.85894	0.550000	0.68814	GAG		0.582	SLC1A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466630.1			53	201	0	0	0	0	53	201				
EHD2	30846	broad.mit.edu	37	19	48229328	48229328	+	Silent	SNP	C	C	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr19:48229328C>T	ENST00000263277.3	+	4	1013	c.762C>T	c.(760-762)atC>atT	p.I254I	CTD-2571L23.8_ENST00000599924.1_lincRNA|EHD2_ENST00000538399.1_Silent_p.I118I	NM_014601.3	NP_055416.2	Q9NZN4	EHD2_HUMAN	EH-domain containing 2	254	Dynamin-type G.				blood coagulation (GO:0007596)|cortical actin cytoskeleton organization (GO:0030866)|endocytic recycling (GO:0032456)|endocytosis (GO:0006897)|positive regulation of endocytic recycling (GO:2001137)|positive regulation of myoblast fusion (GO:1901741)|protein localization to plasma membrane (GO:0072659)	caveola (GO:0005901)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|nucleic acid binding (GO:0003676)			endometrium(3)|large_intestine(7)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	19		all_cancers(25;6.74e-07)|all_lung(116;2.02e-05)|Lung NSC(112;3.77e-05)|all_epithelial(76;4.89e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)		OV - Ovarian serous cystadenocarcinoma(262;0.000336)|all cancers(93;0.000415)|Epithelial(262;0.0132)|GBM - Glioblastoma multiforme(486;0.0537)		GCGTCTACATCGGCTCCTTCT	0.697																																						uc002phj.3		NA																	0				ovary(1)|skin(1)	2						c.(760-762)ATC>ATT		EH-domain containing 2							24.0	21.0	22.0					19																	48229328		2198	4291	6489	SO:0001819	synonymous_variant	30846				blood coagulation|endocytic recycling	nucleus|plasma membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding	g.chr19:48229328C>T	AF181263	CCDS12704.1	19q13.3	2014-08-12			ENSG00000024422	ENSG00000024422		"""EF-hand domain containing"""	3243	protein-coding gene	gene with protein product		605890		PAST2		10673336	Standard	NM_014601		Approved		uc002phj.4	Q9NZN4	OTTHUMG00000183266	ENST00000263277.3:c.762C>T	19.37:g.48229328C>T						EHD2_uc010xyu.1_Silent_p.I118I|EHD2_uc010xyv.1_5'Flank	p.I254I	NM_014601	NP_055416	Q9NZN4	EHD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000336)|all cancers(93;0.000415)|Epithelial(262;0.0132)|GBM - Glioblastoma multiforme(486;0.0537)	4	1012	+		all_cancers(25;6.74e-07)|all_lung(116;2.02e-05)|Lung NSC(112;3.77e-05)|all_epithelial(76;4.89e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)	254					B2RDH9|B4DNU6|Q96CB6	Silent	SNP	ENST00000263277.3	37	c.762C>T	CCDS12704.1																																																																																				0.697	EHD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465851.1			6	6	0	0	0	0	6	6				
MYH14	79784	broad.mit.edu	37	19	50721024	50721024	+	Silent	SNP	G	G	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr19:50721024G>T	ENST00000596571.1	+	2	558	c.558G>T	c.(556-558)ctG>ctT	p.L186L	MYH14_ENST00000262269.8_Silent_p.L186L|MYH14_ENST00000440075.2_Silent_p.L186L|MYH14_ENST00000598205.1_Silent_p.L186L|MYH14_ENST00000601313.1_Silent_p.L186L|MYH14_ENST00000425460.1_Silent_p.L186L|MYH14_ENST00000376970.2_Silent_p.L186L			Q7Z406	MYH14_HUMAN	myosin, heavy chain 14, non-muscle	186	Myosin motor.				actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|mitochondrion morphogenesis (GO:0070584)|neuronal action potential (GO:0019228)|regulation of cell shape (GO:0008360)|sensory perception of sound (GO:0007605)|skeletal muscle atrophy (GO:0014732)|skeletal muscle contraction (GO:0003009)|skeletal muscle tissue development (GO:0007519)|vocalization behavior (GO:0071625)	actomyosin (GO:0042641)|axon (GO:0030424)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|stress fiber (GO:0001725)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		GGAGCATGCTGCAGGGTGAGT	0.642																																						uc002prr.1		NA																	0				central_nervous_system(1)	1						c.(556-558)CTG>CTT		myosin, heavy chain 14 isoform 2							40.0	45.0	43.0					19																	50721024		2089	4235	6324	SO:0001819	synonymous_variant	79784				axon guidance|regulation of cell shape	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr19:50721024G>T	AY165122	CCDS46151.1, CCDS54295.1, CCDS59411.1	19q13.33	2011-09-27	2009-11-19			ENSG00000105357		"""Myosins / Myosin superfamily : Class II"""	23212	protein-coding gene	gene with protein product		608568	"""myosin, heavy polypeptide 14"", ""myosin, heavy chain 14"""	DFNA4		12909352, 15015131, 17940200	Standard	NM_024729		Approved	FLJ13881, KIAA2034, MHC16, MYH17	uc010enu.1	Q7Z406		ENST00000596571.1:c.558G>T	19.37:g.50721024G>T						MYH14_uc010enu.1_Silent_p.L186L|MYH14_uc002prq.1_Silent_p.L186L	p.L186L	NM_024729	NP_079005	Q7Z406	MYH14_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)	3	605	+		all_neural(266;0.0571)|Ovarian(192;0.0728)	186			Myosin head-like.		B0I1S2|C3TTN4|Q5CZ75|Q6XYE4|Q76B62|Q8WV23|Q96I22|Q9BT27|Q9BW35|Q9H882	Silent	SNP	ENST00000596571.1	37	c.558G>T	CCDS59411.1																																																																																				0.642	MYH14-008	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464710.2	NM_024729		29	57	1	0	7.01e-11	7.41e-11	29	57				
SIGLEC8	27181	broad.mit.edu	37	19	51958028	51958028	+	Nonsense_Mutation	SNP	G	G	C			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr19:51958028G>C	ENST00000321424.3	-	5	1124	c.1058C>G	c.(1057-1059)tCa>tGa	p.S353*	SIGLEC8_ENST00000340550.5_Nonsense_Mutation_p.S260*|SIGLEC8_ENST00000597352.1_5'Flank|SIGLEC8_ENST00000430817.1_Nonsense_Mutation_p.S244*	NM_014442.2	NP_055257.2	Q9NYZ4	SIGL8_HUMAN	sialic acid binding Ig-like lectin 8	353					cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2)	50		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		TACAGGTCTTGAGGTGCCTGC	0.547																																						uc002pwt.2		NA																	0				ovary(2)|kidney(1)|central_nervous_system(1)|skin(1)	5						c.(1057-1059)TCA>TGA		sialic acid binding Ig-like lectin 8 precursor							113.0	99.0	103.0					19																	51958028		2203	4300	6503	SO:0001587	stop_gained	27181				cell adhesion	integral to membrane	sugar binding|transmembrane receptor activity	g.chr19:51958028G>C	AF195092	CCDS33086.1	19q13.33-q13.41	2013-01-29			ENSG00000105366	ENSG00000105366		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10877	protein-coding gene	gene with protein product		605639				10625619	Standard	XR_243922		Approved	SIGLEC-8, SAF2, SIGLEC8L, MGC59785	uc002pwt.3	Q9NYZ4		ENST00000321424.3:c.1058C>G	19.37:g.51958028G>C	ENSP00000321077:p.Ser353*					SIGLEC8_uc010yda.1_Nonsense_Mutation_p.S244*|SIGLEC8_uc002pwu.2_RNA|SIGLEC8_uc010eox.2_Nonsense_Mutation_p.S260*	p.S353*	NM_014442	NP_055257	Q9NYZ4	SIGL8_HUMAN		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)	5	1125	-		all_neural(266;0.0199)	353			Extracellular (Potential).		Q7Z728	Nonsense_Mutation	SNP	ENST00000321424.3	37	c.1058C>G	CCDS33086.1	.	.	.	.	.	.	.	.	.	.	.	14.14	2.447753	0.43429	.	.	ENSG00000105366	ENST00000430817;ENST00000321424;ENST00000340550	.	.	.	1.76	-0.565	0.11771	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.41790	T	0.15	.	4.27	0.10782	0.3919:0.0:0.6081:0.0	.	.	.	.	X	244;353;260	.	ENSP00000321077:S353X	S	-	2	0	SIGLEC8	56649840	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.436000	0.21526	-0.065000	0.13021	-0.552000	0.04208	TCA		0.547	SIGLEC8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463648.2	NM_014442		11	97	0	0	0	0	11	97				
ZNF350	59348	broad.mit.edu	37	19	52468574	52468574	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr19:52468574C>G	ENST00000243644.4	-	5	1359	c.1132G>C	c.(1132-1134)Gaa>Caa	p.E378Q	HCCAT3_ENST00000595010.1_RNA|ZNF350_ENST00000600703.1_5'Flank|HCCAT3_ENST00000600253.1_RNA	NM_021632.3	NP_067645.3	Q9GZX5	ZN350_HUMAN	zinc finger protein 350	378					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|endometrium(3)|kidney(3)|large_intestine(7)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		all_neural(266;0.0505)		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0179)		TTCCCACATTCACTACATTCA	0.433																																						uc002pyd.2		NA																	0				breast(1)	1						c.(1132-1134)GAA>CAA		zinc finger protein 350							65.0	61.0	63.0					19																	52468574		2203	4300	6503	SO:0001583	missense	59348				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix|transcriptional repressor complex	DNA binding|protein binding|zinc ion binding	g.chr19:52468574C>G	AF295096	CCDS12845.1	19q13.41	2013-05-23			ENSG00000256683	ENSG00000256683		"""Zinc fingers, C2H2-type"", ""-"""	16656	protein-coding gene	gene with protein product		605422				11090615, 11161714	Standard	NM_021632		Approved	ZBRK1, ZFQR	uc002pyd.3	Q9GZX5	OTTHUMG00000182538	ENST00000243644.4:c.1132G>C	19.37:g.52468574C>G	ENSP00000243644:p.Glu378Gln					uc002pyb.2_Intron|uc002pyc.2_Intron	p.E378Q	NM_021632	NP_067645	Q9GZX5	ZN350_HUMAN		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0179)	5	1360	-		all_neural(266;0.0505)	378			C2H2-type 7.		Q96G73|Q9HAQ4	Missense_Mutation	SNP	ENST00000243644.4	37	c.1132G>C	CCDS12845.1	.	.	.	.	.	.	.	.	.	.	C	3.714	-0.058944	0.07317	.	.	ENSG00000256683	ENST00000243644	T	0.07444	3.19	3.41	2.37	0.29283	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	1.395110	0.04998	N	0.468589	T	0.07234	0.0183	N	0.16903	0.455	0.09310	N	1	B	0.20164	0.042	B	0.23150	0.044	T	0.40515	-0.9559	10	0.38643	T	0.18	.	9.403	0.38444	0.0:0.89:0.0:0.11	.	378	Q9GZX5	ZN350_HUMAN	Q	378	ENSP00000243644:E378Q	ENSP00000243644:E378Q	E	-	1	0	ZNF350	57160386	0.000000	0.05858	0.458000	0.27068	0.129000	0.20672	-0.560000	0.05964	0.643000	0.30638	0.591000	0.81541	GAA		0.433	ZNF350-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462278.1	NM_021632		11	43	0	0	0	0	11	43				
ZNF615	284370	broad.mit.edu	37	19	52497896	52497896	+	Missense_Mutation	SNP	T	T	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr19:52497896T>A	ENST00000602063.1	-	6	782	c.433A>T	c.(433-435)Aac>Tac	p.N145Y	ZNF615_ENST00000594083.1_Missense_Mutation_p.N156Y|ZNF615_ENST00000391795.3_Missense_Mutation_p.N150Y|ZNF615_ENST00000376716.5_Missense_Mutation_p.N145Y|ZNF615_ENST00000598071.1_Missense_Mutation_p.N156Y			Q8N8J6	ZN615_HUMAN	zinc finger protein 615	145					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(5)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	42		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		CTTTTCTGGTTTTCAAAACTT	0.318																																						uc002pye.1		NA																	0				ovary(4)|skin(1)	5						c.(433-435)AAC>TAC		zinc finger protein 615							51.0	55.0	53.0					19																	52497896		2191	4289	6480	SO:0001583	missense	284370				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52497896T>A	AK096691	CCDS12846.1, CCDS59418.1	19q13.41	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	24740	protein-coding gene	gene with protein product						12477932	Standard	NM_001199324		Approved	FLJ33710	uc002pyf.2	Q8N8J6		ENST00000602063.1:c.433A>T	19.37:g.52497896T>A	ENSP00000473089:p.Asn145Tyr					ZNF615_uc002pyf.1_Missense_Mutation_p.N156Y|ZNF615_uc002pyg.1_Missense_Mutation_p.N37Y|ZNF615_uc002pyh.1_Missense_Mutation_p.N156Y|ZNF615_uc010epi.1_Missense_Mutation_p.N152Y|ZNF615_uc010ydg.1_Missense_Mutation_p.N150Y	p.N145Y	NM_198480	NP_940882	Q8N8J6	ZN615_HUMAN		GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019)	6	725	-		all_neural(266;0.117)	145					B7ZKW9|Q2M2Y6|Q5CZB0|Q6ZMT7|Q6ZRB3	Missense_Mutation	SNP	ENST00000602063.1	37	c.433A>T	CCDS12846.1	.	.	.	.	.	.	.	.	.	.	T	0.016	-1.527015	0.00959	.	.	ENSG00000197619	ENST00000376716;ENST00000354939;ENST00000391795;ENST00000391793	T;T	0.08634	3.1;3.07	3.2	1.09	0.20402	.	.	.	.	.	T	0.09468	0.0233	L	0.39898	1.24	0.09310	N	1	P;P;P;P	0.47191	0.826;0.891;0.891;0.826	B;P;P;B	0.48227	0.367;0.571;0.571;0.367	T	0.23868	-1.0176	9	0.48119	T	0.1	.	4.5269	0.11986	0.0:0.2935:0.0:0.7065	.	150;152;156;145	B4DH87;Q8N8J6-3;Q8N8J6-2;Q8N8J6	.;.;.;ZN615_HUMAN	Y	145;155;150;155	ENSP00000365906:N145Y;ENSP00000375672:N150Y	ENSP00000347019:N155Y	N	-	1	0	ZNF615	57189708	.	.	0.012000	0.15200	0.267000	0.26476	.	.	0.434000	0.26340	0.533000	0.62120	AAC		0.318	ZNF615-009	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462391.1	NM_198480		8	87	0	0	0	0	8	87				
OSCAR	126014	broad.mit.edu	37	19	54600369	54600369	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr19:54600369C>G	ENST00000284648.6	-	4	350	c.153G>C	c.(151-153)ttG>ttC	p.L51F	OSCAR_ENST00000358375.4_Missense_Mutation_p.L51F|OSCAR_ENST00000351806.4_Missense_Mutation_p.L40F|OSCAR_ENST00000391760.1_Intron|OSCAR_ENST00000356532.3_Missense_Mutation_p.L55F|OSCAR_ENST00000359649.4_Missense_Mutation_p.L55F|OSCAR_ENST00000391761.1_Missense_Mutation_p.L40F			Q8IYS5	OSCAR_HUMAN	osteoclast associated, immunoglobulin-like receptor	51	Ig-like 1.					extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				large_intestine(1)|skin(1)	2	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)					CCCGGCATCTCAAGGTCACGT	0.592																																						uc002qdd.2		NA																	0					0						c.(226-228)TTG>TTC		osteoclast-associated receptor isoform 1							70.0	74.0	73.0					19																	54600369		2203	4300	6503	SO:0001583	missense	126014					extracellular region|integral to membrane|plasma membrane	receptor activity	g.chr19:54600369C>G	AK130199	CCDS12873.1, CCDS12874.1, CCDS12875.1, CCDS12876.1, CCDS62789.1, CCDS74444.1	19q13.42	2013-01-29			ENSG00000170909	ENSG00000170909		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	29960	protein-coding gene	gene with protein product		606862				11805147	Standard	NM_206818		Approved		uc002qda.3	Q8IYS5	OTTHUMG00000064966	ENST00000284648.6:c.153G>C	19.37:g.54600369C>G	ENSP00000365808:p.Leu51Phe					OSCAR_uc002qcy.2_Missense_Mutation_p.L55F|OSCAR_uc002qcz.2_Missense_Mutation_p.L51F|OSCAR_uc002qda.2_Missense_Mutation_p.L55F|OSCAR_uc002qdb.2_Missense_Mutation_p.L40F|OSCAR_uc010erc.2_Missense_Mutation_p.E19Q|OSCAR_uc002qdc.2_Missense_Mutation_p.L65F	p.L76F	NM_206818	NP_996554	Q8IYS5	OSCAR_HUMAN			4	345	-	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)		51			Ig-like 1.		B7WNS2|Q5GRG5|Q8N763|Q8NHL4|Q8WXQ0|Q8WXQ1|Q8WXQ2	Missense_Mutation	SNP	ENST00000284648.6	37	c.228G>C		.	.	.	.	.	.	.	.	.	.	C	15.02	2.708143	0.48412	.	.	ENSG00000170909	ENST00000391761;ENST00000356532;ENST00000359649;ENST00000358375;ENST00000351806;ENST00000284648	T;T;T;T;T;T	0.01665	4.7;4.7;4.7;4.7;4.7;4.7	4.05	2.91	0.33838	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.000000	0.30890	U	0.008679	T	0.08802	0.0218	M	0.80422	2.495	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;0.999;1.0	D;D;D;D;D;D	0.97110	0.999;1.0;0.989;0.999;0.976;0.971	T	0.00664	-1.1620	10	0.87932	D	0	.	9.1609	0.37021	0.0:0.7761:0.2239:0.0	.	51;40;40;55;51;55	Q8IYS5;Q8IYS5-4;Q8IYS5-6;Q8IYS5-7;Q8IYS5-2;Q8IYS5-3	OSCAR_HUMAN;.;.;.;.;.	F	40;55;55;51;40;51	ENSP00000375641:L40F;ENSP00000348927:L55F;ENSP00000352671:L55F;ENSP00000351145:L51F;ENSP00000304523:L40F;ENSP00000365808:L51F	ENSP00000365808:L51F	L	-	3	2	OSCAR	59292181	1.000000	0.71417	0.973000	0.42090	0.434000	0.31775	1.833000	0.39161	2.001000	0.58596	0.585000	0.79938	TTG		0.592	OSCAR-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000139493.4	NM_133169		28	122	0	0	0	0	28	122				
NLRP5	126206	broad.mit.edu	37	19	56539850	56539850	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr19:56539850G>A	ENST00000390649.3	+	7	2251	c.2251G>A	c.(2251-2253)Gag>Aag	p.E751K		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	751					cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|embryo implantation (GO:0007566)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|neuron death (GO:0070997)|organ morphogenesis (GO:0009887)|regulation of protein stability (GO:0031647)|regulation of RNA stability (GO:0043487)	apical cortex (GO:0045179)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|protein complex (GO:0043234)	ATP binding (GO:0005524)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		TGAGTCCGCTGAGGCATGTCC	0.522																																						uc002qmj.2		NA																	0				ovary(3)|skin(2)|kidney(1)|central_nervous_system(1)	7						c.(2251-2253)GAG>AAG		NACHT, LRR and PYD containing protein 5							143.0	143.0	143.0					19																	56539850		2024	4195	6219	SO:0001583	missense	126206					mitochondrion|nucleolus	ATP binding	g.chr19:56539850G>A	AY154460	CCDS12938.1	19q13.43	2008-10-30	2006-12-08	2006-12-08	ENSG00000171487	ENSG00000171487		"""Nucleotide-binding domain and leucine rich repeat containing"""	21269	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 5"""	609658	"""NACHT, leucine rich repeat and PYD containing 5"""	NALP5		12563287, 11925379	Standard	NM_153447		Approved	PYPAF8, MATER, PAN11, CLR19.8	uc002qmj.3	P59047	OTTHUMG00000149887	ENST00000390649.3:c.2251G>A	19.37:g.56539850G>A	ENSP00000375063:p.Glu751Lys					NLRP5_uc002qmi.2_Missense_Mutation_p.E732K	p.E751K	NM_153447	NP_703148	P59047	NALP5_HUMAN		GBM - Glioblastoma multiforme(193;0.0326)	7	2251	+		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)	751			LRR 2.		A8MTY4|Q86W29	Missense_Mutation	SNP	ENST00000390649.3	37	c.2251G>A	CCDS12938.1	.	.	.	.	.	.	.	.	.	.	G	11.47	1.648898	0.29336	.	.	ENSG00000171487	ENST00000390649	D	0.86956	-2.19	2.98	-0.608	0.11611	.	0.812996	0.10061	N	0.720939	T	0.77552	0.4147	L	0.48362	1.52	0.09310	N	1	B	0.25955	0.138	B	0.20955	0.032	T	0.58381	-0.7646	10	0.11794	T	0.64	.	5.2541	0.15539	0.4812:0.0:0.5188:0.0	.	751	P59047	NALP5_HUMAN	K	751	ENSP00000375063:E751K	ENSP00000375063:E751K	E	+	1	0	NLRP5	61231662	0.042000	0.20092	0.000000	0.03702	0.001000	0.01503	0.852000	0.27764	-0.045000	0.13468	-0.367000	0.07326	GAG		0.522	NLRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313735.1	NM_153447		58	202	0	0	0	0	58	202				
USP29	57663	broad.mit.edu	37	19	57642360	57642360	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr19:57642360G>A	ENST00000254181.4	+	4	2771	c.2317G>A	c.(2317-2319)Gaa>Aaa	p.E773K	USP29_ENST00000598197.1_Missense_Mutation_p.E773K	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	773	USP.				ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)			breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TCAGTCTACAGAATTAAGACT	0.463																																						uc002qny.2		NA																	0				lung(6)|ovary(2)|breast(2)|pancreas(1)	11						c.(2317-2319)GAA>AAA		ubiquitin specific peptidase 29							49.0	42.0	44.0					19																	57642360		2203	4300	6503	SO:0001583	missense	57663				protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity	g.chr19:57642360G>A		CCDS33124.1	19q13.4	2008-06-23	2005-08-08			ENSG00000131864		"""Ubiquitin-specific peptidases"""	18563	protein-coding gene	gene with protein product		609546	"""ubiquitin specific protease 29"""			12838346	Standard	NM_020903		Approved		uc002qny.3	Q9HBJ7		ENST00000254181.4:c.2317G>A	19.37:g.57642360G>A	ENSP00000254181:p.Glu773Lys						p.E773K	NM_020903	NP_065954	Q9HBJ7	UBP29_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	4	2673	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)	773						Missense_Mutation	SNP	ENST00000254181.4	37	c.2317G>A	CCDS33124.1	.	.	.	.	.	.	.	.	.	.	G	13.18	2.161287	0.38119	.	.	ENSG00000131864	ENST00000254181	T	0.54279	0.58	2.28	2.28	0.28536	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	.	.	.	.	T	0.43411	0.1246	L	0.31578	0.945	0.09310	N	1	D	0.52996	0.957	P	0.47376	0.545	T	0.18429	-1.0337	9	0.38643	T	0.18	-7.7992	8.1353	0.31050	0.0:0.0:1.0:0.0	.	773	Q9HBJ7	UBP29_HUMAN	K	773	ENSP00000254181:E773K	ENSP00000254181:E773K	E	+	1	0	USP29	62334172	0.034000	0.19679	0.071000	0.20095	0.009000	0.06853	0.442000	0.21628	1.556000	0.49512	0.591000	0.81541	GAA		0.463	USP29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465075.1			17	24	0	0	0	0	17	24				
TRIM28	10155	broad.mit.edu	37	19	59060728	59060728	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr19:59060728C>A	ENST00000253024.5	+	13	1982	c.1693C>A	c.(1693-1695)Cct>Act	p.P565T	TRIM28_ENST00000341753.6_Missense_Mutation_p.P483T	NM_005762.2	NP_005753.1	Q13263	TIF1B_HUMAN	tripartite motif containing 28	565					convergent extension involved in axis elongation (GO:0060028)|DNA repair (GO:0006281)|embryonic placenta morphogenesis (GO:0060669)|epithelial to mesenchymal transition (GO:0001837)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral release from host cell (GO:1902187)|positive regulation of DNA repair (GO:0045739)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein oligomerization (GO:0051259)|protein sumoylation (GO:0016925)|protein ubiquitination (GO:0016567)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nuclear euchromatin (GO:0005719)|nuclear heterochromatin (GO:0005720)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|Krueppel-associated box domain binding (GO:0035851)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			biliary_tract(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|urinary_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179)		CATTGGAGCCCCTCCTACTGC	0.607																																						uc002qtg.1		NA																	0				ovary(1)|lung(1)|breast(1)	3						c.(1693-1695)CCT>ACT		tripartite motif-containing 28 protein							114.0	126.0	122.0					19																	59060728		2203	4300	6503	SO:0001583	missense	10155				epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent	nucleoplasm	chromo shadow domain binding|ligase activity|transcription corepressor activity|zinc ion binding	g.chr19:59060728C>A		CCDS12985.1	19q13.4	2014-06-13	2011-01-25			ENSG00000130726		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, PHD-type"""	16384	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 157"""	601742	"""tripartite motif-containing 28"""			11331580, 11226167	Standard	NM_005762		Approved	TIF1B, KAP1, TF1B, RNF96, PPP1R157	uc002qtg.1	Q13263		ENST00000253024.5:c.1693C>A	19.37:g.59060728C>A	ENSP00000253024:p.Pro565Thr					TRIM28_uc010eut.1_Missense_Mutation_p.P483T|TRIM28_uc002qth.1_Missense_Mutation_p.P180T	p.P565T	NM_005762	NP_005753	Q13263	TIF1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179)	13	1982	+		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)	565					O00677|Q7Z632|Q93040|Q96IM1	Missense_Mutation	SNP	ENST00000253024.5	37	c.1693C>A	CCDS12985.1	.	.	.	.	.	.	.	.	.	.	C	14.50	2.552837	0.45487	.	.	ENSG00000130726	ENST00000253024;ENST00000341753	T;T	0.67698	-0.06;-0.28	4.94	3.83	0.44106	.	0.653489	0.13855	N	0.358085	T	0.66268	0.2772	N	0.14661	0.345	0.27848	N	0.940847	D;D;D	0.71674	0.998;0.992;0.997	D;P;P	0.63703	0.917;0.486;0.829	T	0.60890	-0.7173	10	0.87932	D	0	-24.487	12.7716	0.57423	0.0:0.8336:0.1664:0.0	.	483;565;565	Q13263-2;B2R8R5;Q13263	.;.;TIF1B_HUMAN	T	565;483	ENSP00000253024:P565T;ENSP00000342232:P483T	ENSP00000253024:P565T	P	+	1	0	TRIM28	63752540	0.352000	0.24895	0.291000	0.24904	0.598000	0.36846	2.584000	0.46102	2.467000	0.83353	0.543000	0.68304	CCT		0.607	TRIM28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467074.1	NM_005762		53	195	1	0	6.57e-35	7.08e-35	53	195				
RSAD2	91543	broad.mit.edu	37	2	7023543	7023543	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr2:7023543C>G	ENST00000382040.3	+	2	524	c.388C>G	c.(388-390)Caa>Gaa	p.Q130E	RSAD2_ENST00000541728.1_Missense_Mutation_p.Q23E	NM_080657.4	NP_542388.2			radical S-adenosyl methionine domain containing 2											endometrium(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)	20	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			OV - Ovarian serous cystadenocarcinoma(76;0.191)		GCCATTTCTTCAAGACCGGGG	0.453																																						uc002qyp.1		NA																	0					0						c.(388-390)CAA>GAA		radical S-adenosyl methionine domain containing							110.0	110.0	110.0					2																	7023543		2203	4300	6503	SO:0001583	missense	91543				defense response to virus	endoplasmic reticulum membrane|Golgi apparatus	catalytic activity|iron-sulfur cluster binding|metal ion binding	g.chr2:7023543C>G	AF442151	CCDS1656.1	2p25.2	2008-02-05			ENSG00000134321	ENSG00000134321			30908	protein-coding gene	gene with protein product		607810				11752458	Standard	NM_080657		Approved	cig5, viperin, vig1	uc002qyp.1	Q8WXG1	OTTHUMG00000090352	ENST00000382040.3:c.388C>G	2.37:g.7023543C>G	ENSP00000371471:p.Gln130Glu						p.Q130E	NM_080657	NP_542388	Q8WXG1	RSAD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.191)	2	524	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		130						Missense_Mutation	SNP	ENST00000382040.3	37	c.388C>G	CCDS1656.1	.	.	.	.	.	.	.	.	.	.	C	11.87	1.766214	0.31228	.	.	ENSG00000134321	ENST00000442639;ENST00000382040;ENST00000541728	D;D;D	0.91894	-2.93;-2.93;-2.93	6.04	6.04	0.98038	Elongator protein 3/MiaB/NifB (1);Radical SAM (1);	0.607006	0.19143	N	0.121642	D	0.89563	0.6751	L	0.31926	0.97	0.33544	D	0.595247	B	0.18610	0.029	B	0.20577	0.03	D	0.87225	0.2256	10	0.56958	D	0.05	-5.0208	20.5948	0.99439	0.0:1.0:0.0:0.0	.	130	Q8WXG1	RSAD2_HUMAN	E	62;130;23	ENSP00000406427:Q62E;ENSP00000371471:Q130E;ENSP00000440859:Q23E	ENSP00000371471:Q130E	Q	+	1	0	RSAD2	6940994	0.988000	0.35896	0.010000	0.14722	0.087000	0.18053	4.328000	0.59253	2.873000	0.98535	0.563000	0.77884	CAA		0.453	RSAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206724.2	NM_080657		12	88	0	0	0	0	12	88				
ADAM17	6868	broad.mit.edu	37	2	9630344	9630344	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr2:9630344G>A	ENST00000310823.3	-	19	2619	c.2437C>T	c.(2437-2439)Cgt>Tgt	p.R813C	IAH1_ENST00000545602.1_Intron	NM_003183.4	NP_003174.3	P78536	ADA17_HUMAN	ADAM metallopeptidase domain 17	813					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|B cell differentiation (GO:0030183)|cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell motility (GO:0048870)|collagen catabolic process (GO:0030574)|epidermal growth factor receptor signaling pathway (GO:0007173)|epidermal growth factor-activated receptor transactivation by G-protein coupled receptor signaling pathway (GO:0035625)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|germinal center formation (GO:0002467)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|membrane protein ectodomain proteolysis (GO:0006509)|membrane protein intracellular domain proteolysis (GO:0031293)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil mediated immunity (GO:0002446)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|PMA-inducible membrane protein ectodomain proteolysis (GO:0051088)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular component movement (GO:0051272)|positive regulation of chemokine production (GO:0032722)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of leukocyte chemotaxis (GO:0002690)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of T cell chemotaxis (GO:0010820)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|proteolysis (GO:0006508)|regulation of mast cell apoptotic process (GO:0033025)|response to drug (GO:0042493)|response to high density lipoprotein particle (GO:0055099)|response to hypoxia (GO:0001666)|response to lipopolysaccharide (GO:0032496)|spleen development (GO:0048536)|T cell differentiation in thymus (GO:0033077)|wound healing, spreading of epidermal cells (GO:0035313)	actin cytoskeleton (GO:0015629)|apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|interleukin-6 receptor binding (GO:0005138)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|Notch binding (GO:0005112)|PDZ domain binding (GO:0030165)|zinc ion binding (GO:0008270)			breast(1)|cervix(4)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	28	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.225)		CGATTCTGACGCTGCAGTTTA	0.438																																						uc002qzu.2		NA																	0				lung(1)|kidney(1)	2						c.(2437-2439)CGT>TGT		a disintegrin and metalloprotease domain 17							75.0	72.0	73.0					2																	9630344		2203	4300	6503	SO:0001583	missense	6868				B cell differentiation|cell adhesion mediated by integrin|epidermal growth factor receptor signaling pathway|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|germinal center formation|membrane protein intracellular domain proteolysis|negative regulation of interleukin-8 production|nerve growth factor receptor signaling pathway|Notch signaling pathway|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of chemokine production|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of protein phosphorylation|positive regulation of T cell chemotaxis|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of mast cell apoptosis|response to drug|response to high density lipoprotein particle stimulus|response to hypoxia|response to lipopolysaccharide|spleen development|T cell differentiation in thymus|wound healing, spreading of epidermal cells	actin cytoskeleton|apical plasma membrane|cell surface|cytoplasm|integral to plasma membrane|membrane raft	integrin binding|interleukin-6 receptor binding|metalloendopeptidase activity|PDZ domain binding|SH3 domain binding|zinc ion binding	g.chr2:9630344G>A	U69611	CCDS1665.1	2p25	2010-08-05	2008-07-31		ENSG00000151694	ENSG00000151694		"""ADAM metallopeptidase domain containing"", ""CD molecules"""	195	protein-coding gene	gene with protein product		603639	"""tumor necrosis factor, alpha, converting enzyme"""	TACE		9034190, 9574564	Standard	NM_003183		Approved	cSVP, CD156B	uc002qzu.3	P78536	OTTHUMG00000090425	ENST00000310823.3:c.2437C>T	2.37:g.9630344G>A	ENSP00000309968:p.Arg813Cys					IAH1_uc010yiz.1_Intron|ADAM17_uc010ewy.2_Missense_Mutation_p.R796C|ADAM17_uc010ewz.2_Missense_Mutation_p.R156C	p.R813C	NM_003183	NP_003174	P78536	ADA17_HUMAN		Epithelial(75;0.225)	19	2620	-	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		813			Cytoplasmic (Potential).		O60226	Missense_Mutation	SNP	ENST00000310823.3	37	c.2437C>T	CCDS1665.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.526658	0.85706	.	.	ENSG00000151694	ENST00000310823	T	0.33654	1.4	5.67	5.67	0.87782	.	0.053414	0.85682	D	0.000000	T	0.50582	0.1624	L	0.29908	0.895	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.69479	0.959;0.964;0.964	T	0.51965	-0.8638	10	0.87932	D	0	.	19.7704	0.96361	0.0:0.0:1.0:0.0	.	532;813;813	Q53RS1;B2RNB2;P78536	.;.;ADA17_HUMAN	C	813	ENSP00000309968:R813C	ENSP00000309968:R813C	R	-	1	0	ADAM17	9547795	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.789000	0.69029	2.676000	0.91093	0.561000	0.74099	CGT		0.438	ADAM17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206857.1			5	67	0	0	0	0	5	67				
TRIB2	28951	broad.mit.edu	37	2	12858450	12858450	+	Missense_Mutation	SNP	C	C	G	rs371172548		TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr2:12858450C>G	ENST00000405331.3	+	1	87	c.17C>G	c.(16-18)tCt>tGt	p.S6C	RP11-333O1.1_ENST00000569860.1_lincRNA|TRIB2_ENST00000381465.2_Intron|TRIB2_ENST00000155926.4_Missense_Mutation_p.S6C					tribbles pseudokinase 2											breast(1)|cervix(1)|endometrium(1)|large_intestine(8)|lung(5)|prostate(1)|skin(1)|stomach(1)	19	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					ATACACAGGTCTACCCCCATC	0.537											OREG0014450	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002rbv.3		NA																	0				stomach(1)	1						c.(16-18)TCT>TGT		tribbles homolog 2							60.0	64.0	63.0					2																	12858450		2203	4300	6503	SO:0001583	missense	28951				negative regulation of fat cell differentiation|negative regulation of interleukin-10 biosynthetic process|negative regulation of protein kinase activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|regulation of MAP kinase activity	cytoplasm|cytoskeleton|nucleus	ATP binding|protein kinase activity|protein kinase inhibitor activity|transcription factor binding|ubiquitin protein ligase binding|ubiquitin-protein ligase regulator activity	g.chr2:12858450C>G	AY245544	CCDS1683.1	2p25.1	2013-10-03	2013-10-03		ENSG00000071575	ENSG00000071575			30809	protein-coding gene	gene with protein product		609462	"""tribbles homolog 2 (Drosophila)"""			12736262, 17097562, 16715410	Standard	NM_021643		Approved	TRB2, GS3955	uc002rbv.4	Q92519	OTTHUMG00000090575	ENST00000405331.3:c.17C>G	2.37:g.12858450C>G	ENSP00000384260:p.Ser6Cys		OREG0014450	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	683	TRIB2_uc010yjp.1_Intron	p.S6C	NM_021643	NP_067675	Q92519	TRIB2_HUMAN			1	1453	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		6						Missense_Mutation	SNP	ENST00000405331.3	37	c.17C>G		.	.	.	.	.	.	.	.	.	.	C	25.2	4.613684	0.87359	.	.	ENSG00000071575	ENST00000155926;ENST00000405331	T;T	0.50813	0.73;2.89	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	T	0.62792	0.2457	L	0.50333	1.59	0.58432	D	0.999993	D	0.76494	0.999	P	0.62813	0.907	T	0.65166	-0.6234	10	0.87932	D	0	-9.0202	18.2284	0.89926	0.0:1.0:0.0:0.0	.	6	Q92519	TRIB2_HUMAN	C	6	ENSP00000155926:S6C;ENSP00000384260:S6C	ENSP00000155926:S6C	S	+	2	0	TRIB2	12775901	1.000000	0.71417	0.993000	0.49108	0.999000	0.98932	7.459000	0.80802	2.545000	0.85829	0.650000	0.86243	TCT		0.537	TRIB2-004	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000323585.1	NM_021643		7	62	0	0	0	0	7	62				
APOB	338	broad.mit.edu	37	2	21226113	21226113	+	Missense_Mutation	SNP	C	C	T	rs121918385		TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr2:21226113C>T	ENST00000233242.1	-	29	12308	c.12181G>A	c.(12181-12183)Gag>Aag	p.E4061K	RP11-116D2.1_ENST00000567376.2_lincRNA	NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	4061					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GAAGCTGCCTCTTCTTCCCAA	0.453																																						uc002red.2		NA																	0				ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27	GRCh37	CD920828	APOB	D	rs121918385	c.(12181-12183)GAG>AAG		apolipoprotein B precursor	Atorvastatin(DB01076)						202.0	219.0	213.0					2																	21226113		2203	4300	6503	SO:0001583	missense	338				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	g.chr2:21226113C>T	M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.12181G>A	2.37:g.21226113C>T	ENSP00000233242:p.Glu4061Lys						p.E4061K	NM_000384	NP_000375	P04114	APOB_HUMAN			29	12309	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		4061					O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	ENST00000233242.1	37	c.12181G>A	CCDS1703.1	.	.	.	.	.	.	.	.	.	.	C	16.13	3.035878	0.54896	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.34859	1.34	5.89	5.02	0.67125	.	0.488636	0.18634	N	0.135504	T	0.40694	0.1127	M	0.70595	2.14	0.80722	D	1	P	0.39282	0.666	B	0.37508	0.252	T	0.33394	-0.9870	10	0.40728	T	0.16	.	15.2209	0.73310	0.0:0.9326:0.0:0.0674	.	4061	P04114	APOB_HUMAN	K	4061	ENSP00000233242:E4061K	ENSP00000233242:E4061K	E	-	1	0	APOB	21079618	0.996000	0.38824	0.462000	0.27118	0.727000	0.41649	5.747000	0.68689	1.501000	0.48654	-0.150000	0.13652	GAG		0.453	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			107	295	0	0	0	0	107	295				
ATAD2B	54454	broad.mit.edu	37	2	23980730	23980730	+	Silent	SNP	G	G	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr2:23980730G>A	ENST00000238789.5	-	25	3979	c.3636C>T	c.(3634-3636)atC>atT	p.I1212I	ATAD2B_ENST00000474583.1_5'UTR	NM_001242338.1|NM_017552.2	NP_001229267.1|NP_060022.1	Q9ULI0	ATD2B_HUMAN	ATPase family, AAA domain containing 2B	1212						nucleus (GO:0005634)	ATP binding (GO:0005524)|lysine-acetylated histone binding (GO:0070577)			central_nervous_system(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCAAGTCCATGATGTCACAGG	0.443																																						uc002rek.3		NA																	0				central_nervous_system(1)	1						c.(3634-3636)ATC>ATT		ATPase family, AAA domain containing 2B							137.0	133.0	134.0					2																	23980730		1970	4143	6113	SO:0001819	synonymous_variant	54454						ATP binding|nucleoside-triphosphatase activity	g.chr2:23980730G>A	AB033066	CCDS46227.1	2p24.1-p23.3	2010-04-21		2007-02-08	ENSG00000119778	ENSG00000119778		"""ATPases / AAA-type"""	29230	protein-coding gene	gene with protein product		615347					Standard	XM_005264372		Approved	KIAA1240	uc002rek.4	Q9ULI0	OTTHUMG00000151902	ENST00000238789.5:c.3636C>T	2.37:g.23980730G>A						ATAD2B_uc010yki.1_RNA|ATAD2B_uc002rei.3_Silent_p.I452I|ATAD2B_uc002rej.3_Silent_p.I380I	p.I1212I	NM_017552	NP_060022	Q9ULI0	ATD2B_HUMAN			25	3930	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		1212					B9ZVQ5|Q6ZNA6|Q8N9E7	Silent	SNP	ENST00000238789.5	37	c.3636C>T	CCDS46227.1	.	.	.	.	.	.	.	.	.	.	G	8.057	0.767240	0.15983	.	.	ENSG00000119778	ENST00000381024	.	.	.	5.62	5.62	0.85841	.	.	.	.	.	T	0.60183	0.2249	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.57613	-0.7781	4	.	.	.	.	8.7261	0.34469	0.0809:0.0:0.7671:0.1519	.	.	.	.	L	488	.	.	S	-	2	0	ATAD2B	23834234	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.366000	0.44204	2.817000	0.96982	0.563000	0.77884	TCA		0.443	ATAD2B-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324333.1	NM_017552		31	101	0	0	0	0	31	101				
C2orf44	80304	broad.mit.edu	37	2	24255769	24255769	+	Silent	SNP	G	G	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr2:24255769G>A	ENST00000295148.4	-	3	1923	c.1866C>T	c.(1864-1866)ctC>ctT	p.L622L	C2orf44_ENST00000406895.3_Intron	NM_025203.2	NP_079479.1	Q9H6R7	CB044_HUMAN	chromosome 2 open reading frame 44	622									C2orf44/ALK(2)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TACCATCACAGAGAAGCACCG	0.383			T	ALK	NSCLC																																	uc002rep.2		NA		Dom	yes		2	2p23.3	80304		chromosome 2 open reading frame 44			E					0				ovary(1)|breast(1)	2						c.(1864-1866)CTC>CTT		hypothetical protein LOC80304 isoform 1							160.0	152.0	155.0					2																	24255769		2203	4300	6503	SO:0001819	synonymous_variant	80304						protein binding	g.chr2:24255769G>A	AK025598	CCDS1705.1, CCDS46229.1	2p23.3	2012-07-30			ENSG00000163026	ENSG00000163026			26157	protein-coding gene	gene with protein product						22327622	Standard	NM_025203		Approved	FLJ21945	uc002rep.2	Q9H6R7	OTTHUMG00000125498	ENST00000295148.4:c.1866C>T	2.37:g.24255769G>A						C2orf44_uc010eya.2_Intron	p.L622L	NM_025203	NP_079479	Q9H6R7	CB044_HUMAN			3	1997	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		622					D6W532|Q8IYK0|Q9HBP5	Silent	SNP	ENST00000295148.4	37	c.1866C>T	CCDS1705.1																																																																																				0.383	C2orf44-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000246825.1	NM_025203		46	151	0	0	0	0	46	151				
TMEM214	54867	broad.mit.edu	37	2	27263361	27263361	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr2:27263361G>A	ENST00000238788.9	+	16	2002	c.1940G>A	c.(1939-1941)tGc>tAc	p.C647Y	TMEM214_ENST00000404032.3_Missense_Mutation_p.C602Y	NM_017727.4	NP_060197.4	Q6NUQ4	TM214_HUMAN	transmembrane protein 214	647					apoptotic process (GO:0006915)	cytoplasmic microtubule (GO:0005881)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						CATGAGGCATGCAGGTGAGAC	0.637																																						uc002ria.3		NA																	0					0						c.(1939-1941)TGC>TAC		transmembrane protein 214 isoform 1							52.0	51.0	51.0					2																	27263361		1984	4144	6128	SO:0001583	missense	54867					integral to membrane	protein binding	g.chr2:27263361G>A		CCDS42664.1, CCDS46242.1	2p23.3	2013-06-19			ENSG00000119777	ENSG00000119777			25983	protein-coding gene	gene with protein product						23661706	Standard	NM_001083590		Approved	FLJ20254	uc002ria.4	Q6NUQ4	OTTHUMG00000151999	ENST00000238788.9:c.1940G>A	2.37:g.27263361G>A	ENSP00000238788:p.Cys647Tyr					TMEM214_uc010yle.1_RNA|TMEM214_uc002rib.3_Missense_Mutation_p.C602Y	p.C647Y	NM_017727	NP_060197	Q6NUQ4	TM214_HUMAN			16	2050	+			647					A6NNF2|B3KUI9|B5MCD8|D6W547|Q53SW1|Q69YH4|Q8NC45|Q8WZ37|Q9NXH2	Missense_Mutation	SNP	ENST00000238788.9	37	c.1940G>A	CCDS42664.1	.	.	.	.	.	.	.	.	.	.	G	19.32	3.805779	0.70682	.	.	ENSG00000119777	ENST00000238788;ENST00000404032;ENST00000537397	T;T	0.49139	0.79;0.79	5.56	4.66	0.58398	.	0.048902	0.85682	D	0.000000	T	0.66247	0.2770	M	0.71581	2.175	0.49915	D	0.999833	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.68375	-0.5425	10	0.54805	T	0.06	-14.8981	12.7545	0.57325	0.0:0.0:0.8357:0.1642	.	602;647	Q6NUQ4-2;Q6NUQ4	.;TM214_HUMAN	Y	647;602;387	ENSP00000238788:C647Y;ENSP00000384417:C602Y	ENSP00000238788:C647Y	C	+	2	0	TMEM214	27116865	1.000000	0.71417	0.988000	0.46212	0.990000	0.78478	6.002000	0.70693	1.307000	0.44944	0.555000	0.69702	TGC		0.637	TMEM214-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324748.1	NM_017727		5	56	0	0	0	0	5	56				
GTF3C2	2976	broad.mit.edu	37	2	27566224	27566224	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr2:27566224C>G	ENST00000359541.2	-	2	627	c.198G>C	c.(196-198)caG>caC	p.Q66H	AC109828.1_ENST00000589853.1_RNA|GTF3C2_ENST00000264720.3_Missense_Mutation_p.Q66H|AC109828.1_ENST00000588707.1_RNA|AC109828.1_ENST00000590383.1_RNA			Q8WUA4	TF3C2_HUMAN	general transcription factor IIIC, polypeptide 2, beta 110kDa	66					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	nucleoplasm (GO:0005654)|transcription factor TFIIIC complex (GO:0000127)				central_nervous_system(4)|endometrium(6)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	38	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGAGCCTCCTCTGATCAGGAG	0.488																																						uc002rjv.1		NA																	0				ovary(1)|skin(1)	2						c.(196-198)CAG>CAC		general transcription factor IIIC, polypeptide							151.0	156.0	154.0					2																	27566224		2203	4300	6503	SO:0001583	missense	2976					transcription factor TFIIIC complex		g.chr2:27566224C>G	D13636	CCDS1749.1	2p23.3	2013-01-10	2002-08-29		ENSG00000115207	ENSG00000115207		"""General transcription factors"", ""WD repeat domain containing"""	4665	protein-coding gene	gene with protein product		604883	"""general transcription factor IIIC, polypeptide 2 (beta subunit, 110kD)"""			7729686	Standard	NM_001521		Approved	KIAA0011, TFIIIC110	uc002rjw.2	Q8WUA4	OTTHUMG00000097785	ENST00000359541.2:c.198G>C	2.37:g.27566224C>G	ENSP00000352536:p.Gln66His					GTF3C2_uc002rju.1_Missense_Mutation_p.Q77H|GTF3C2_uc002rjw.1_Missense_Mutation_p.Q66H|GTF3C2_uc010eyz.1_Missense_Mutation_p.Q66H	p.Q66H	NM_001521	NP_001512	Q8WUA4	TF3C2_HUMAN			3	561	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		66					D6W557|Q16632|Q9BWI7	Missense_Mutation	SNP	ENST00000359541.2	37	c.198G>C	CCDS1749.1	.	.	.	.	.	.	.	.	.	.	C	9.508	1.104989	0.20632	.	.	ENSG00000115207	ENST00000359541;ENST00000264720;ENST00000457748;ENST00000423998	T;T	0.72505	-0.66;-0.66	4.94	3.98	0.46160	.	0.599517	0.15670	N	0.250402	T	0.46229	0.1382	N	0.08118	0	0.09310	N	1	B;B;B	0.33512	0.415;0.002;0.164	B;B;B	0.28139	0.086;0.001;0.086	T	0.39683	-0.9602	10	0.66056	D	0.02	-0.5206	7.3783	0.26841	0.0:0.8799:0.0:0.1201	.	66;66;66	Q8WUA4-2;Q8WUA4;Q53QN0	.;TF3C2_HUMAN;.	H	66	ENSP00000352536:Q66H;ENSP00000264720:Q66H	ENSP00000264720:Q66H	Q	-	3	2	GTF3C2	27419728	0.193000	0.23313	0.098000	0.21074	0.506000	0.33950	1.854000	0.39368	2.554000	0.86153	0.563000	0.77884	CAG		0.488	GTF3C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215028.2			9	282	0	0	0	0	9	282				
GTF3C2	2976	broad.mit.edu	37	2	27566241	27566241	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr2:27566241C>G	ENST00000359541.2	-	2	610	c.181G>C	c.(181-183)Gag>Cag	p.E61Q	AC109828.1_ENST00000589853.1_RNA|GTF3C2_ENST00000264720.3_Missense_Mutation_p.E61Q|AC109828.1_ENST00000588707.1_RNA|AC109828.1_ENST00000590383.1_RNA			Q8WUA4	TF3C2_HUMAN	general transcription factor IIIC, polypeptide 2, beta 110kDa	61					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	nucleoplasm (GO:0005654)|transcription factor TFIIIC complex (GO:0000127)				central_nervous_system(4)|endometrium(6)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	38	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGAGAATCCTCAAATCCAGGC	0.488																																						uc002rjv.1		NA																	0				ovary(1)|skin(1)	2						c.(181-183)GAG>CAG		general transcription factor IIIC, polypeptide							155.0	157.0	156.0					2																	27566241		2203	4300	6503	SO:0001583	missense	2976					transcription factor TFIIIC complex		g.chr2:27566241C>G	D13636	CCDS1749.1	2p23.3	2013-01-10	2002-08-29		ENSG00000115207	ENSG00000115207		"""General transcription factors"", ""WD repeat domain containing"""	4665	protein-coding gene	gene with protein product		604883	"""general transcription factor IIIC, polypeptide 2 (beta subunit, 110kD)"""			7729686	Standard	NM_001521		Approved	KIAA0011, TFIIIC110	uc002rjw.2	Q8WUA4	OTTHUMG00000097785	ENST00000359541.2:c.181G>C	2.37:g.27566241C>G	ENSP00000352536:p.Glu61Gln					GTF3C2_uc002rju.1_Missense_Mutation_p.E72Q|GTF3C2_uc002rjw.1_Missense_Mutation_p.E61Q|GTF3C2_uc010eyz.1_Missense_Mutation_p.E61Q	p.E61Q	NM_001521	NP_001512	Q8WUA4	TF3C2_HUMAN			3	544	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		61					D6W557|Q16632|Q9BWI7	Missense_Mutation	SNP	ENST00000359541.2	37	c.181G>C	CCDS1749.1	.	.	.	.	.	.	.	.	.	.	C	17.33	3.362644	0.61403	.	.	ENSG00000115207	ENST00000359541;ENST00000264720;ENST00000457748;ENST00000423998	T;T	0.80123	-1.34;-1.34	5.24	5.24	0.73138	.	0.311235	0.28420	N	0.015411	T	0.75443	0.3850	N	0.24115	0.695	0.31799	N	0.628664	P;P;P	0.46656	0.882;0.631;0.747	P;B;P	0.47891	0.56;0.287;0.56	T	0.79945	-0.1589	10	0.56958	D	0.05	-11.665	14.1867	0.65609	0.0:1.0:0.0:0.0	.	61;61;61	Q8WUA4-2;Q8WUA4;Q53QN0	.;TF3C2_HUMAN;.	Q	61	ENSP00000352536:E61Q;ENSP00000264720:E61Q	ENSP00000264720:E61Q	E	-	1	0	GTF3C2	27419745	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	3.298000	0.51818	2.715000	0.92844	0.563000	0.77884	GAG		0.488	GTF3C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215028.2			5	260	0	0	0	0	5	260				
GTF3C2	2976	broad.mit.edu	37	2	27566274	27566274	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr2:27566274C>G	ENST00000359541.2	-	2	577	c.148G>C	c.(148-150)Gag>Cag	p.E50Q	AC109828.1_ENST00000589853.1_RNA|GTF3C2_ENST00000264720.3_Missense_Mutation_p.E50Q|AC109828.1_ENST00000588707.1_RNA|AC109828.1_ENST00000590383.1_RNA			Q8WUA4	TF3C2_HUMAN	general transcription factor IIIC, polypeptide 2, beta 110kDa	50					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	nucleoplasm (GO:0005654)|transcription factor TFIIIC complex (GO:0000127)				central_nervous_system(4)|endometrium(6)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	38	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AATGACATCTCTACGGAAGCC	0.522																																						uc002rjv.1		NA																	0				ovary(1)|skin(1)	2						c.(148-150)GAG>CAG		general transcription factor IIIC, polypeptide							159.0	158.0	158.0					2																	27566274		2203	4300	6503	SO:0001583	missense	2976					transcription factor TFIIIC complex		g.chr2:27566274C>G	D13636	CCDS1749.1	2p23.3	2013-01-10	2002-08-29		ENSG00000115207	ENSG00000115207		"""General transcription factors"", ""WD repeat domain containing"""	4665	protein-coding gene	gene with protein product		604883	"""general transcription factor IIIC, polypeptide 2 (beta subunit, 110kD)"""			7729686	Standard	NM_001521		Approved	KIAA0011, TFIIIC110	uc002rjw.2	Q8WUA4	OTTHUMG00000097785	ENST00000359541.2:c.148G>C	2.37:g.27566274C>G	ENSP00000352536:p.Glu50Gln					GTF3C2_uc002rju.1_Missense_Mutation_p.E61Q|GTF3C2_uc002rjw.1_Missense_Mutation_p.E50Q|GTF3C2_uc010eyz.1_Missense_Mutation_p.E50Q	p.E50Q	NM_001521	NP_001512	Q8WUA4	TF3C2_HUMAN			3	511	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		50					D6W557|Q16632|Q9BWI7	Missense_Mutation	SNP	ENST00000359541.2	37	c.148G>C	CCDS1749.1	.	.	.	.	.	.	.	.	.	.	C	12.54	1.968250	0.34754	.	.	ENSG00000115207	ENST00000359541;ENST00000264720;ENST00000457748;ENST00000423998	T;T	0.74421	-0.84;-0.84	5.04	4.08	0.47627	.	0.666605	0.13888	N	0.355846	T	0.55593	0.1930	N	0.19112	0.55	0.25462	N	0.987906	P;B;B	0.39216	0.664;0.31;0.437	B;B;B	0.34652	0.187;0.068;0.187	T	0.49273	-0.8957	10	0.44086	T	0.13	-9.7742	7.5414	0.27740	0.0:0.883:0.0:0.117	.	50;50;50	Q8WUA4-2;Q8WUA4;Q53QN0	.;TF3C2_HUMAN;.	Q	50	ENSP00000352536:E50Q;ENSP00000264720:E50Q	ENSP00000264720:E50Q	E	-	1	0	GTF3C2	27419778	1.000000	0.71417	0.927000	0.36925	0.907000	0.53573	1.949000	0.40313	2.609000	0.88269	0.563000	0.77884	GAG		0.522	GTF3C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215028.2			5	254	0	0	0	0	5	254				
GTF3C2	2976	broad.mit.edu	37	2	27566301	27566301	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr2:27566301C>A	ENST00000359541.2	-	2	550	c.121G>T	c.(121-123)Gaa>Taa	p.E41*	AC109828.1_ENST00000589853.1_RNA|GTF3C2_ENST00000264720.3_Nonsense_Mutation_p.E41*|AC109828.1_ENST00000588707.1_RNA|AC109828.1_ENST00000590383.1_RNA			Q8WUA4	TF3C2_HUMAN	general transcription factor IIIC, polypeptide 2, beta 110kDa	41					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	nucleoplasm (GO:0005654)|transcription factor TFIIIC complex (GO:0000127)				central_nervous_system(4)|endometrium(6)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	38	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTGGTCATTTCTGAAGAGGTC	0.542																																						uc002rjv.1		NA																	0				ovary(1)|skin(1)	2						c.(121-123)GAA>TAA		general transcription factor IIIC, polypeptide							153.0	151.0	151.0					2																	27566301		2203	4300	6503	SO:0001587	stop_gained	2976					transcription factor TFIIIC complex		g.chr2:27566301C>A	D13636	CCDS1749.1	2p23.3	2013-01-10	2002-08-29		ENSG00000115207	ENSG00000115207		"""General transcription factors"", ""WD repeat domain containing"""	4665	protein-coding gene	gene with protein product		604883	"""general transcription factor IIIC, polypeptide 2 (beta subunit, 110kD)"""			7729686	Standard	NM_001521		Approved	KIAA0011, TFIIIC110	uc002rjw.2	Q8WUA4	OTTHUMG00000097785	ENST00000359541.2:c.121G>T	2.37:g.27566301C>A	ENSP00000352536:p.Glu41*					GTF3C2_uc002rju.1_Nonsense_Mutation_p.E52*|GTF3C2_uc002rjw.1_Nonsense_Mutation_p.E41*|GTF3C2_uc010eyz.1_Nonsense_Mutation_p.E41*	p.E41*	NM_001521	NP_001512	Q8WUA4	TF3C2_HUMAN			3	484	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		41					D6W557|Q16632|Q9BWI7	Nonsense_Mutation	SNP	ENST00000359541.2	37	c.121G>T	CCDS1749.1	.	.	.	.	.	.	.	.	.	.	C	20.5	3.996838	0.74818	.	.	ENSG00000115207	ENST00000359541;ENST00000264720;ENST00000457748;ENST00000423998	.	.	.	5.04	4.08	0.47627	.	0.734951	0.12560	N	0.458273	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	-12.0747	7.5414	0.27740	0.0:0.883:0.0:0.117	.	.	.	.	X	41	.	ENSP00000264720:E41X	E	-	1	0	GTF3C2	27419805	0.999000	0.42202	0.992000	0.48379	0.799000	0.45148	1.949000	0.40313	2.609000	0.88269	0.563000	0.77884	GAA		0.542	GTF3C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215028.2			6	239	1	0	2.53e-12	2.69e-12	6	239				
SPDYA	245711	broad.mit.edu	37	2	29063067	29063067	+	Silent	SNP	C	C	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr2:29063067C>T	ENST00000334056.5	+	7	771	c.582C>T	c.(580-582)atC>atT	p.I194I	SPDYA_ENST00000379579.4_Silent_p.I194I|SPDYA_ENST00000462832.1_3'UTR	NM_182756.3	NP_877433.2			speedy/RINGO cell cycle regulator family member A											cervix(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9	Acute lymphoblastic leukemia(172;0.155)					CCCATTATATCTGGCAAAGAG	0.378																																						uc002rmj.2		NA																	0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(580-582)ATC>ATT		speedy homolog A isoform 1							50.0	46.0	47.0					2																	29063067		2203	4300	6503	SO:0001819	synonymous_variant	245711				G1/S transition of mitotic cell cycle|multicellular organismal development|positive regulation of cell proliferation|response to DNA damage stimulus	nucleus	protein kinase binding	g.chr2:29063067C>T	AA424209	CCDS1767.2	2p23	2013-05-08	2013-05-08	2006-03-31	ENSG00000163806	ENSG00000163806		"""Speedy homologs"""	30613	protein-coding gene	gene with protein product		614029	"""speedy homolog 1 (Drosophila)"", ""speedy homolog A (Xenopus laevis)"""	SPDY1		11980914, 12839962, 15611625	Standard	NM_182756		Approved	SPY1, Ringo3	uc002rmk.3	Q5MJ70	OTTHUMG00000074041	ENST00000334056.5:c.582C>T	2.37:g.29063067C>T						SPDYA_uc002rmi.2_Silent_p.I194I|SPDYA_uc002rmk.2_Silent_p.I194I|SPDYA_uc002rml.2_Silent_p.I194I	p.I194I	NM_182756	NP_877433	Q5MJ70	SPDYA_HUMAN			7	788	+	Acute lymphoblastic leukemia(172;0.155)		194			Speedy/Ringo box; Required for CDK- binding (By similarity).			Silent	SNP	ENST00000334056.5	37	c.582C>T	CCDS1767.2																																																																																				0.378	SPDYA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157171.1	NM_182756		7	37	0	0	0	0	7	37				
C2orf71	388939	broad.mit.edu	37	2	29294902	29294902	+	Silent	SNP	C	C	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr2:29294902C>T	ENST00000331664.5	-	1	2225	c.2226G>A	c.(2224-2226)gaG>gaA	p.E742E		NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN	chromosome 2 open reading frame 71	742					response to stimulus (GO:0050896)|visual perception (GO:0007601)	primary cilium (GO:0072372)				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						TCCTCAGACTCTCCGTGGGAC	0.562																																						uc002rmt.1		NA																	0				skin(1)	1						c.(2224-2226)GAG>GAA		hypothetical protein LOC388939							66.0	64.0	65.0					2																	29294902		1963	4155	6118	SO:0001819	synonymous_variant	388939				response to stimulus|visual perception	photoreceptor outer segment		g.chr2:29294902C>T		CCDS42669.1	2p23.2	2014-01-28			ENSG00000179270	ENSG00000179270			34383	protein-coding gene	gene with protein product		613425				20398886	Standard	NM_001029883		Approved	FLJ34931, RP54	uc002rmt.2	A6NGG8	OTTHUMG00000152024	ENST00000331664.5:c.2226G>A	2.37:g.29294902C>T							p.E742E	NM_001029883	NP_001025054	A6NGG8	CB071_HUMAN			1	2226	-			742						Silent	SNP	ENST00000331664.5	37	c.2226G>A	CCDS42669.1																																																																																				0.562	C2orf71-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000324924.3	NM_001029883		27	65	0	0	0	0	27	65				
XDH	7498	broad.mit.edu	37	2	31598258	31598258	+	Silent	SNP	C	C	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr2:31598258C>T	ENST00000379416.3	-	15	1638	c.1590G>A	c.(1588-1590)gaG>gaA	p.E530E		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	530					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|lactation (GO:0007595)|negative regulation of endothelial cell differentiation (GO:0045602)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of gene expression (GO:0010629)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|negative regulation of vasculogenesis (GO:2001213)|nucleobase-containing small molecule metabolic process (GO:0055086)|positive regulation of p38MAPK cascade (GO:1900745)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)|xanthine catabolic process (GO:0009115)	cytosol (GO:0005829)|extracellular space (GO:0005615)|peroxisome (GO:0005777)	2 iron, 2 sulfur cluster binding (GO:0051537)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|iron ion binding (GO:0005506)|molybdopterin cofactor binding (GO:0043546)|protein homodimerization activity (GO:0042803)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)|xanthine dehydrogenase activity (GO:0004854)|xanthine oxidase activity (GO:0004855)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Aldesleukin(DB00041)|Allopurinol(DB00437)|Azathioprine(DB00993)|Carboplatin(DB00958)|Carvedilol(DB01136)|Chlorphenesin(DB00856)|Cisplatin(DB00515)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Doxorubicin(DB00997)|Flavin adenine dinucleotide(DB03147)|L-Carnitine(DB00583)|Menadione(DB00170)|Mercaptopurine(DB01033)|Nitrofural(DB00336)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Spermine(DB00127)|Trifluoperazine(DB00831)	CTTCCAGGTTCTCTTGGCCCA	0.552																																					Colon(66;682 1445 30109 40147)	uc002rnv.1		NA																	0				skin(4)|breast(2)|ovary(1)|central_nervous_system(1)	8						c.(1588-1590)GAG>GAA		xanthine dehydrogenase	Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)						106.0	109.0	108.0					2																	31598258		2203	4300	6503	SO:0001819	synonymous_variant	7498				purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity	g.chr2:31598258C>T	D11456	CCDS1775.1	2p23.1	2009-07-10	2003-03-20		ENSG00000158125	ENSG00000158125	1.17.1.4		12805	protein-coding gene	gene with protein product		607633	"""xanthene dehydrogenase"""			8224915	Standard	NM_000379		Approved	XOR, XO	uc002rnv.1	P47989	OTTHUMG00000099385	ENST00000379416.3:c.1590G>A	2.37:g.31598258C>T							p.E530E	NM_000379	NP_000370	P47989	XDH_HUMAN			15	1669	-	Acute lymphoblastic leukemia(172;0.155)		530					Q16681|Q16712|Q4PJ16	Silent	SNP	ENST00000379416.3	37	c.1590G>A	CCDS1775.1																																																																																				0.552	XDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216840.1	NM_000379		39	120	0	0	0	0	39	120				
GPATCH11	253635	broad.mit.edu	37	2	37319076	37319076	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr2:37319076C>T	ENST00000608836.1	+	5	479	c.334C>T	c.(334-336)Cat>Tat	p.H112Y	GPATCH11_ENST00000281932.5_Missense_Mutation_p.H9Y|GPATCH11_ENST00000409774.1_Missense_Mutation_p.H138Y	NM_174931.2	NP_777591.3	Q8N954	GPT11_HUMAN	G patch domain containing 11	112	G-patch. {ECO:0000255|PROSITE- ProRule:PRU00092}.						nucleic acid binding (GO:0003676)										TGGCATTGGTCATGAGGCATC	0.348																																						uc010ezz.2		NA																	0					0						c.(334-336)CAT>TAT		coiled-coil domain containing 75							46.0	50.0	49.0					2																	37319076		2202	4300	6502	SO:0001583	missense	253635					intracellular	nucleic acid binding	g.chr2:37319076C>T	AK095667	CCDS1785.2, CCDS62891.1, CCDS1785.3	2p22.2	2013-11-05	2013-01-28	2013-01-28	ENSG00000152133	ENSG00000152133		"""G patch domain containing"""	26768	protein-coding gene	gene with protein product	"""centromere protein Y"""		"""coiled-coil domain containing 75"""	CCDC75			Standard	NM_001278505		Approved	FLJ38348, CENPY, CENP-Y	uc010ezz.3	Q8N954	OTTHUMG00000128469	ENST00000608836.1:c.334C>T	2.37:g.37319076C>T	ENSP00000476383:p.His112Tyr					CCDC75_uc002rpr.3_Missense_Mutation_p.H9Y	p.H112Y	NM_174931	NP_777591	Q8N954	CCD75_HUMAN			5	479	+		all_hematologic(82;0.21)	112			G-patch.		A8K0D9|B7Z2G4|B8ZZ44	Missense_Mutation	SNP	ENST00000608836.1	37	c.334C>T	CCDS1785.2	.	.	.	.	.	.	.	.	.	.	C	13.18	2.160981	0.38119	.	.	ENSG00000152133	ENST00000409774;ENST00000281932	T	0.27720	1.65	5.67	5.67	0.87782	D111/G-patch (3);	0.131181	0.53938	D	0.000041	T	0.32734	0.0839	N	0.05510	-0.035	0.50313	D	0.999865	D;D	0.65815	0.993;0.995	P;P	0.60949	0.881;0.77	T	0.19679	-1.0298	10	0.22109	T	0.4	-26.6907	18.7596	0.91845	0.0:1.0:0.0:0.0	.	112;9	Q8N954;Q8N954-2	CCD75_HUMAN;.	Y	112;9	ENSP00000386772:H112Y	ENSP00000281932:H9Y	H	+	1	0	CCDC75	37172580	0.976000	0.34144	0.893000	0.35052	0.066000	0.16364	2.968000	0.49224	2.666000	0.90696	0.655000	0.94253	CAT		0.348	GPATCH11-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_174931		9	36	0	0	0	0	9	36				
CDKL4	344387	broad.mit.edu	37	2	39406448	39406448	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr2:39406448C>T	ENST00000395035.3	-	8	806	c.807G>A	c.(805-807)atG>atA	p.M269I	CDKL4_ENST00000378803.1_Missense_Mutation_p.M269I			Q5MAI5	CDKL4_HUMAN	cyclin-dependent kinase-like 4	269	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					cytoplasm (GO:0005737)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)			breast(1)|large_intestine(2)|liver(1)|lung(7)|ovary(1)	12		all_hematologic(82;0.248)				CATCTGGATTCATCTTCAGAC	0.423																																						uc002rrm.2		NA																	0				ovary(1)	1						c.(805-807)ATG>ATA		cyclin-dependent kinase-like 4							75.0	76.0	75.0					2																	39406448		2203	4300	6503	SO:0001583	missense	344387					cytoplasm	ATP binding|cyclin-dependent protein kinase activity	g.chr2:39406448C>T		CCDS33184.1	2p22.3	2011-11-04			ENSG00000205111	ENSG00000205111		"""Cyclin-dependent kinases"""	19287	protein-coding gene	gene with protein product							Standard	NM_001009565		Approved		uc002rrm.3	Q5MAI5	OTTHUMG00000133574	ENST00000395035.3:c.807G>A	2.37:g.39406448C>T	ENSP00000378476:p.Met269Ile					CDKL4_uc010fal.1_Missense_Mutation_p.M269I	p.M269I	NM_001009565	NP_001009565	Q5MAI5	CDKL4_HUMAN			8	807	-		all_hematologic(82;0.248)	269			Protein kinase.		Q2NME9	Missense_Mutation	SNP	ENST00000395035.3	37	c.807G>A		.	.	.	.	.	.	.	.	.	.	C	13.51	2.258515	0.39896	.	.	ENSG00000205111	ENST00000451199;ENST00000378803;ENST00000395035	T;T;T	0.40225	2.87;1.04;1.04	5.67	5.67	0.87782	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	0.64402	D	0.000003	T	0.28400	0.0702	N	0.05199	-0.095	0.43439	D	0.995616	P;B	0.37548	0.599;0.022	B;B	0.41135	0.348;0.088	T	0.16129	-1.0413	10	0.37606	T	0.19	-35.8497	15.2756	0.73739	0.0:1.0:0.0:0.0	.	269;269	Q2NME9;Q5MAI5	.;CDKL4_HUMAN	I	51;269;269	ENSP00000389833:M51I;ENSP00000368080:M269I;ENSP00000378476:M269I	ENSP00000368080:M269I	M	-	3	0	CDKL4	39259952	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.437000	0.52863	2.676000	0.91093	0.655000	0.94253	ATG		0.423	CDKL4-002	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000331655.1	XM_293029		14	90	0	0	0	0	14	90				
PLEKHH2	130271	broad.mit.edu	37	2	43902889	43902889	+	Intron	SNP	C	C	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr2:43902889C>T	ENST00000282406.4	+	3	233					NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 2						negative regulation of actin filament depolymerization (GO:0030835)	cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	actin binding (GO:0003779)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				GTCTTTTCATCAACTCTCTGC	0.448																																						uc010fav.1		NA																	0					0						c.(571-573)TTG>TTA		C1GALT1-specific chaperone 1-like							142.0	142.0	142.0					2																	43902889		1952	4159	6111	SO:0001627	intron_variant	728819							g.chr2:43902889C>T	AB095948	CCDS1812.1	2p22	2013-01-10			ENSG00000152527	ENSG00000152527		"""Pleckstrin homology (PH) domain containing"""	30506	protein-coding gene	gene with protein product		612723					Standard	NM_172069		Approved	KIAA2028, PLEKHH1L	uc010yny.2	Q8IVE3	OTTHUMG00000128657	ENST00000282406.4:c.124-3113C>T	2.37:g.43902889C>T						PLEKHH2_uc002rte.3_Intron|PLEKHH2_uc002rtf.3_Intron|PLEKHH2_uc010yny.1_Intron	p.L191L	NM_001101330	NP_001094800					1	573	-		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)						Q5JPJ6|Q6P4Q1|Q8N3Q3	Silent	SNP	ENST00000282406.4	37	c.573G>A	CCDS1812.1																																																																																				0.448	PLEKHH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250537.1	NM_172069		53	167	0	0	0	0	53	167				
SIX3	6496	broad.mit.edu	37	2	45169452	45169453	+	Missense_Mutation	DNP	CC	CC	AT			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr2:45169452_45169453CC>AT	ENST00000260653.3	+	1	551_552	c.209_210CC>AT	c.(208-210)tCC>tAT	p.S70Y	SIX3-AS1_ENST00000456467.1_RNA|SIX3-AS1_ENST00000419364.1_RNA	NM_005413.3	NP_005404.1	O95343	SIX3_HUMAN	SIX homeobox 3	70					brain development (GO:0007420)|circadian behavior (GO:0048512)|diencephalon development (GO:0021536)|eye development (GO:0001654)|forebrain anterior/posterior pattern specification (GO:0021797)|forebrain dorsal/ventral pattern formation (GO:0021798)|lens induction in camera-type eye (GO:0060235)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|protein import into nucleus (GO:0006606)|telencephalon development (GO:0021537)|visual perception (GO:0007601)	nucleus (GO:0005634)	RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|transcription corepressor binding (GO:0001222)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|skin(1)	11		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				ggcggcggcTCCAGGGCCCCCC	0.772																																						uc002run.1		NA																	0					0						c.(208-210)TCC>TAT		SIX homeobox 3																																				SO:0001583	missense	6496				visual perception	nucleus		g.chr2:45169452_45169453CC>AT	AF092047	CCDS1821.1	2p21	2011-06-20	2007-07-13		ENSG00000138083	ENSG00000138083		"""Homeoboxes / SINE class"""	10889	protein-coding gene	gene with protein product		603714	"""holoprosencephaly 2, alobar or semilobar"", ""sine oculis homeobox homolog 3 (Drosophila)"""	HPE2		9889003, 10369266	Standard	NM_005413		Approved		uc002run.2	O95343	OTTHUMG00000152424	Exception_encountered	2.37:g.45169452_45169453delinsAT	ENSP00000260653:p.Ser70Tyr						p.S70Y	NM_005413	NP_005404	O95343	SIX3_HUMAN			1	416_417	+		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	70					D6W5A5|Q53T42	Missense_Mutation	DNP	ENST00000260653.3	37	c.209_210CC>AT	CCDS1821.1																																																																																				0.772	SIX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326192.1	NM_005413		4	9	0	0	0	0	4	9				
RHOQ	23433	broad.mit.edu	37	2	46770215	46770215	+	Silent	SNP	C	C	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr2:46770215C>T	ENST00000238738.4	+	1	349	c.30C>T	c.(28-30)ctC>ctT	p.L10L	RHOQ_ENST00000465198.1_Intron|ATP6V1E2_ENST00000522587.1_5'Flank|ATP6V1E2_ENST00000505245.2_5'Flank	NM_012249.3	NP_036381.2	P17081	RHOQ_HUMAN	ras homolog family member Q	10					cellular response to insulin stimulus (GO:0032869)|cortical actin cytoskeleton organization (GO:0030866)|GTP catabolic process (GO:0006184)|insulin receptor signaling pathway (GO:0008286)|negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of glucose import (GO:0046326)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	actin filament (GO:0005884)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	GBD domain binding (GO:0032427)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|profilin binding (GO:0005522)			skin(2)	2		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	LUSC - Lung squamous cell carcinoma(58;0.114)			CGCTGATGCTCAAGTGCGTGG	0.736																																						uc002rva.2		NA																	0				skin(2)	2						c.(28-30)CTC>CTT		ras-like protein TC10 precursor							26.0	27.0	27.0					2																	46770215		2200	4297	6497	SO:0001819	synonymous_variant	23433				cortical actin cytoskeleton organization|insulin receptor signaling pathway|negative regulation of establishment of protein localization in plasma membrane|positive regulation of filopodium assembly|positive regulation of glucose import|positive regulation of transcription from RNA polymerase II promoter|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	actin filament|cytosol|plasma membrane	GBD domain binding|GTP binding|GTPase activity|profilin binding	g.chr2:46770215C>T	M31470	CCDS33191.1	2p21	2012-02-27	2012-02-27	2004-03-24	ENSG00000119729	ENSG00000119729			17736	protein-coding gene	gene with protein product		605857	"""RAS-like, family 7, member A"", ""ras homolog gene family, member Q"""	RASL7A, ARHQ		2108320	Standard	NM_012249		Approved	TC10	uc002rva.3	P17081	OTTHUMG00000150653	ENST00000238738.4:c.30C>T	2.37:g.46770215C>T						ATP6V1E2_uc002ruz.2_5'Flank	p.L10L	NM_012249	NP_036381	P17081	RHOQ_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.114)		1	349	+		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	10					D6W5A6|Q0VGN1|Q52LS8|Q53SJ1|Q6NS39|Q6P146|Q7Z480	Silent	SNP	ENST00000238738.4	37	c.30C>T	CCDS33191.1																																																																																				0.736	RHOQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319409.1	NM_012249		6	49	0	0	0	0	6	49				
SOCS5	9655	broad.mit.edu	37	2	46986870	46986870	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr2:46986870G>T	ENST00000306503.5	+	2	1373	c.1201G>T	c.(1201-1203)Ggc>Tgc	p.G401C	SOCS5_ENST00000394861.2_Missense_Mutation_p.G401C	NM_014011.4	NP_054730.1	O75159	SOCS5_HUMAN	suppressor of cytokine signaling 5	401	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				cell growth (GO:0016049)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|JAK-STAT cascade (GO:0007259)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)|negative regulation of signal transduction (GO:0009968)|negative regulation of T-helper 2 cell differentiation (GO:0045629)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of T-helper 1 cell differentiation (GO:0045627)|protein ubiquitination (GO:0016567)|regulation of growth (GO:0040008)		receptor tyrosine kinase binding (GO:0030971)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(9)|ovary(2)	22		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	LUSC - Lung squamous cell carcinoma(58;0.114)			GAAACCTGAAGGCACGTTTTT	0.527																																						uc002rvf.2		NA																	0				ovary(1)|lung(1)|central_nervous_system(1)	3						c.(1201-1203)GGC>TGC		suppressor of cytokine signaling 5							74.0	72.0	72.0					2																	46986870		2203	4300	6503	SO:0001583	missense	9655				cell growth|cytokine-mediated signaling pathway|intracellular signal transduction|negative regulation of signal transduction|negative regulation of T-helper 2 cell differentiation|positive regulation of T-helper 1 cell differentiation|regulation of growth			g.chr2:46986870G>T	AB014571	CCDS1830.1	2p21	2013-02-14			ENSG00000171150	ENSG00000171150		"""Suppressors of cytokine signaling"", ""SH2 domain containing"""	16852	protein-coding gene	gene with protein product		607094				9734811, 11230166	Standard	NM_014011		Approved	KIAA0671, SOCS-5, CIS6, CISH6, Cish5	uc002rvf.3	O75159	OTTHUMG00000128852	ENST00000306503.5:c.1201G>T	2.37:g.46986870G>T	ENSP00000305133:p.Gly401Cys					SOCS5_uc010yoe.1_Missense_Mutation_p.G370C|SOCS5_uc002rvg.2_Missense_Mutation_p.G401C	p.G401C	NM_014011	NP_054730	O75159	SOCS5_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.114)		2	1365	+		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	401			SH2.		Q53SD4|Q8IYZ4	Missense_Mutation	SNP	ENST00000306503.5	37	c.1201G>T	CCDS1830.1	.	.	.	.	.	.	.	.	.	.	G	17.45	3.391475	0.62066	.	.	ENSG00000171150	ENST00000306503;ENST00000394861	D;D	0.97480	-4.4;-4.4	5.43	4.55	0.56014	SH2 motif (4);	0.048511	0.85682	D	0.000000	D	0.99029	0.9668	H	0.98005	4.125	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99091	1.0840	10	0.87932	D	0	-18.3559	13.9305	0.63991	0.0731:0.0:0.9269:0.0	.	401	O75159	SOCS5_HUMAN	C	401	ENSP00000305133:G401C;ENSP00000378330:G401C	ENSP00000305133:G401C	G	+	1	0	SOCS5	46840374	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.657000	0.98554	1.535000	0.49220	-0.136000	0.14681	GGC		0.527	SOCS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250791.2			26	78	1	0	7.93e-12	8.42e-12	26	78				
FBXO11	80204	broad.mit.edu	37	2	48063095	48063095	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr2:48063095C>T	ENST00000403359.3	-	5	705	c.633G>A	c.(631-633)atG>atA	p.M211I	FBXO11_ENST00000480038.1_5'UTR|FBXO11_ENST00000402508.1_Missense_Mutation_p.M127I|FBXO11_ENST00000316377.4_Missense_Mutation_p.M127I	NM_001190274.1	NP_001177203.1	Q86XK2	FBX11_HUMAN	F-box protein 11	211					cellular protein modification process (GO:0006464)|peptidyl-arginine N-methylation (GO:0035246)|protein ubiquitination (GO:0016567)|sensory perception of sound (GO:0007605)|ubiquitin-dependent protein catabolic process (GO:0006511)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	protein-arginine N-methyltransferase activity (GO:0016274)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.0?(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	26		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			GTTCAGGATGCATCATAGGGC	0.328			"""Mis, F, D"""		DLBCL																																	uc010fbl.2		NA		Rec	yes		2	2p16.3	80204		F-box protein 11			L					2	Whole gene deletion(2)		haematopoietic_and_lymphoid_tissue(2)	ovary(1)|lung(1)	2						c.(379-381)ATG>ATA		F-box only protein 11 isoform 1							48.0	51.0	50.0					2																	48063095		2203	4300	6503	SO:0001583	missense	80204				ubiquitin-dependent protein catabolic process	cytoplasm|nucleolus|ubiquitin ligase complex	protein binding|protein-arginine N-methyltransferase activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr2:48063095C>T	AF174599	CCDS1837.1, CCDS54357.1	2p16.3	2014-01-29	2008-06-23	2008-06-23	ENSG00000138081	ENSG00000138081		"""Ubiquitin protein ligase E3 component n-recognins"", ""F-boxes /  ""other"""""	13590	protein-coding gene	gene with protein product	"""ubiquitin protein ligase E3 component n-recognin 6"""	607871	"""F-box only protein 11"""			10531035, 16487488, 18162545	Standard	NM_025133		Approved	FBX11, UBR6	uc002rwe.3	Q86XK2	OTTHUMG00000129130	ENST00000403359.3:c.633G>A	2.37:g.48063095C>T	ENSP00000384823:p.Met211Ile					FBXO11_uc002rwe.2_Missense_Mutation_p.M127I|FBXO11_uc002rwf.2_Missense_Mutation_p.M127I|FBXO11_uc002rwg.1_Missense_Mutation_p.M127I	p.M127I	NM_025133	NP_079409	Q86XK2	FBX11_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		5	495	-		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	211					A1L491|Q52ZP1|Q53EP7|Q53RT5|Q8IXG3|Q96E90|Q9H6V8|Q9H9L1|Q9NR14|Q9UFK1|Q9UHI1|Q9UKC2	Missense_Mutation	SNP	ENST00000403359.3	37	c.381G>A	CCDS54357.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.78|18.78	3.695881|3.695881	0.68386|0.68386	.|.	.|.	ENSG00000138081|ENSG00000138081	ENST00000493962|ENST00000402508;ENST00000403359;ENST00000316377;ENST00000424163	.|T;T;T;T	.|0.52983	.|2.02;2.02;2.02;0.64	5.17|5.17	5.17|5.17	0.71159|0.71159	.|F-box domain, Skp2-like (1);	.|0.037233	.|0.85682	.|D	.|0.000000	T|T	0.39064|0.39064	0.1064|0.1064	N|N	0.25647|0.25647	0.755|0.755	0.80722|0.80722	D|D	1|1	.|B	.|0.13145	.|0.007	.|B	.|0.01281	.|0.0	T|T	0.13872|0.13872	-1.0493|-1.0493	5|10	.|0.42905	.|T	.|0.14	-15.4002|-15.4002	18.6759|18.6759	0.91529|0.91529	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|211	.|Q86XK2	.|FBX11_HUMAN	T|I	3|127;211;127;127	.|ENSP00000385398:M127I;ENSP00000384823:M211I;ENSP00000323822:M127I;ENSP00000392272:M127I	.|ENSP00000323822:M127I	A|M	-|-	1|3	0|0	FBXO11|FBXO11	47916599|47916599	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	7.818000|7.818000	0.86416|0.86416	2.400000|2.400000	0.81607|0.81607	0.467000|0.467000	0.42956|0.42956	GCA|ATG		0.328	FBXO11-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251181.3	NM_012167, NM_018693, NM_025133		7	54	0	0	0	0	7	54				
SPTBN1	6711	broad.mit.edu	37	2	54852072	54852072	+	Silent	SNP	G	G	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr2:54852072G>A	ENST00000356805.4	+	11	1595	c.1314G>A	c.(1312-1314)ctG>ctA	p.L438L	SPTBN1_ENST00000333896.5_Silent_p.L425L	NM_003128.2	NP_003119.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	438					actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi to plasma membrane protein transport (GO:0043001)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|plasma membrane organization (GO:0007009)|protein targeting to plasma membrane (GO:0072661)	axolemma (GO:0030673)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phospholipid binding (GO:0005543)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			AGACTTGGCTGAGCGAAAACC	0.488																																						uc002rxu.2		NA																	0				ovary(3)|breast(2)|central_nervous_system(2)|skin(1)	8						c.(1312-1314)CTG>CTA		spectrin, beta, non-erythrocytic 1 isoform 1							78.0	79.0	79.0					2																	54852072		2203	4300	6503	SO:0001819	synonymous_variant	6711				actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton	g.chr2:54852072G>A		CCDS33198.1, CCDS33199.1	2p21	2013-01-10			ENSG00000115306	ENSG00000115306		"""Pleckstrin homology (PH) domain containing"""	11275	protein-coding gene	gene with protein product		182790					Standard	NM_003128		Approved		uc002rxu.3	Q01082	OTTHUMG00000133746	ENST00000356805.4:c.1314G>A	2.37:g.54852072G>A						SPTBN1_uc002rxv.1_Silent_p.L438L|SPTBN1_uc002rxx.2_Silent_p.L425L	p.L438L	NM_003128	NP_003119	Q01082	SPTB2_HUMAN	Lung(47;0.24)		11	1563	+			438			Spectrin 2.		B2RP63|O60837|Q16057|Q53R99|Q59ER3|Q8IX99	Silent	SNP	ENST00000356805.4	37	c.1314G>A	CCDS33198.1																																																																																				0.488	SPTBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258115.3			6	102	0	0	0	0	6	102				
MTIF2	4528	broad.mit.edu	37	2	55471167	55471167	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr2:55471167C>G	ENST00000263629.4	-	11	1624	c.1309G>C	c.(1309-1311)Gag>Cag	p.E437Q	MTIF2_ENST00000394600.3_Missense_Mutation_p.E437Q|MTIF2_ENST00000403721.1_Missense_Mutation_p.E437Q	NM_002453.2	NP_002444.2	P46199	IF2M_HUMAN	mitochondrial translational initiation factor 2	437					formation of translation initiation complex (GO:0001732)|regulation of translational initiation (GO:0006446)|ribosome disassembly (GO:0032790)	mitochondrion (GO:0005739)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|ribosomal small subunit binding (GO:0043024)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	24						TGATACACCTCAGATTCTACT	0.338																																						uc002ryn.2		NA																	0				ovary(1)	1						c.(1309-1311)GAG>CAG		mitochondrial translational initiation factor 2							48.0	47.0	47.0					2																	55471167		2203	4300	6503	SO:0001583	missense	4528				regulation of translational initiation	mitochondrion	GTP binding|GTPase activity|ribosomal small subunit binding|translation initiation factor activity	g.chr2:55471167C>G	L34600	CCDS1853.1	2p16.1	2008-02-05			ENSG00000085760	ENSG00000085760			7441	protein-coding gene	gene with protein product		603766				9925935, 7829522	Standard	XM_005264335		Approved	IF-2mt	uc002ryo.3	P46199	OTTHUMG00000129338	ENST00000263629.4:c.1309G>C	2.37:g.55471167C>G	ENSP00000263629:p.Glu437Gln					MTIF2_uc010yox.1_Missense_Mutation_p.E106Q|MTIF2_uc002ryo.2_Missense_Mutation_p.E437Q	p.E437Q	NM_001005369	NP_001005369	P46199	IF2M_HUMAN			12	2046	-			437					D6W5D0	Missense_Mutation	SNP	ENST00000263629.4	37	c.1309G>C	CCDS1853.1	.	.	.	.	.	.	.	.	.	.	C	28.0	4.883212	0.91740	.	.	ENSG00000085760	ENST00000403721;ENST00000263629;ENST00000394600;ENST00000535023	T;T;T	0.62941	-0.01;-0.01;-0.01	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	T	0.81721	0.4882	M	0.83603	2.65	0.80722	D	1	D	0.69078	0.997	D	0.71414	0.973	D	0.83554	0.0103	10	0.87932	D	0	-19.475	19.9535	0.97211	0.0:1.0:0.0:0.0	.	437	P46199	IF2M_HUMAN	Q	437	ENSP00000384481:E437Q;ENSP00000263629:E437Q;ENSP00000378099:E437Q	ENSP00000263629:E437Q	E	-	1	0	MTIF2	55324671	1.000000	0.71417	1.000000	0.80357	0.882000	0.50991	7.484000	0.81180	2.710000	0.92621	0.557000	0.71058	GAG		0.338	MTIF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251486.4	NM_002453		7	31	0	0	0	0	7	31				
CFAP36	112942	broad.mit.edu	37	2	55747049	55747049	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr2:55747049G>A	ENST00000349456.4	+	1	260	c.112G>A	c.(112-114)Gaa>Aaa	p.E38K	CCDC104_ENST00000407816.3_Missense_Mutation_p.E38K|CCDC104_ENST00000403007.3_Missense_Mutation_p.E38K|CCDC104_ENST00000406691.3_Missense_Mutation_p.E38K|CCDC104_ENST00000339012.3_Missense_Mutation_p.E38K			Q96G28	CFA36_HUMAN		38										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(2)|lung(1)|ovary(2)	14			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			ACAGAAATGTGAAGGTAAAAA	0.567																																						uc002ryy.2		NA																	0				ovary(1)	1						c.(112-114)GAA>AAA		coiled-coil domain containing 104							66.0	67.0	67.0					2																	55747049		2203	4300	6503	SO:0001583	missense	112942							g.chr2:55747049G>A																												ENST00000349456.4:c.112G>A	2.37:g.55747049G>A	ENSP00000295117:p.Glu38Lys					CCDC104_uc002ryx.2_Missense_Mutation_p.E38K	p.E38K	NM_080667	NP_542398	Q96G28	CC104_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)		1	310	+			38					Q53SF0|Q53ST9|Q6UY34	Missense_Mutation	SNP	ENST00000349456.4	37	c.112G>A	CCDS1854.2	.	.	.	.	.	.	.	.	.	.	G	28.6	4.934210	0.92458	.	.	ENSG00000163001	ENST00000339012;ENST00000406691;ENST00000349456;ENST00000407816;ENST00000403007	T;T;T;T;T	0.42131	0.98;0.98;0.98;0.98;0.98	5.76	5.76	0.90799	ADP-ribosylation factor-like 2-binding protein, domain (2);	0.253811	0.40640	N	0.001057	T	0.44159	0.1280	L	0.29908	0.895	0.37314	D	0.909249	P;P	0.48089	0.551;0.905	B;P	0.51833	0.302;0.681	T	0.46414	-0.9193	10	0.49607	T	0.09	.	14.7698	0.69668	0.0:0.0:0.8557:0.1443	.	38;38	Q96G28;Q96G28-2	CC104_HUMAN;.	K	38	ENSP00000342699:E38K;ENSP00000385400:E38K;ENSP00000295117:E38K;ENSP00000385376:E38K;ENSP00000385972:E38K	ENSP00000342699:E38K	E	+	1	0	CCDC104	55600553	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	3.239000	0.51360	2.734000	0.93682	0.609000	0.83330	GAA		0.567	CCDC104-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319610.2			26	50	0	0	0	0	26	50				
ETAA1	54465	broad.mit.edu	37	2	67630409	67630409	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr2:67630409G>C	ENST00000272342.5	+	5	725	c.595G>C	c.(595-597)Gat>Cat	p.D199H	ETAA1_ENST00000462772.1_Intron	NM_019002.3	NP_061875.2	Q9NY74	ETAA1_HUMAN	Ewing tumor-associated antigen 1	199						cytoplasm (GO:0005737)		p.D199H(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	33						TAAACAATTTGATAAAAATAT	0.259																																						uc002sdz.1		NA																	1	Substitution - Missense(1)		breast(1)	ovary(3)|large_intestine(1)	4						c.(595-597)GAT>CAT		ETAA16 protein							27.0	33.0	31.0					2																	67630409		2164	4266	6430	SO:0001583	missense	54465					cytoplasm|nucleus		g.chr2:67630409G>C	AJ242682	CCDS1882.1	2p14	2014-02-12	2007-10-04		ENSG00000143971	ENSG00000143971			24648	protein-coding gene	gene with protein product		613196	"""Ewing's tumor-associated antigen 1"""			16003559	Standard	XM_005264374		Approved	ETAA16	uc002sdz.1	Q9NY74	OTTHUMG00000129545	ENST00000272342.5:c.595G>C	2.37:g.67630409G>C	ENSP00000272342:p.Asp199His						p.D199H	NM_019002	NP_061875	Q9NY74	ETAA1_HUMAN			5	734	+			199			Potential.		Q05BT7|Q53SC4	Missense_Mutation	SNP	ENST00000272342.5	37	c.595G>C	CCDS1882.1	.	.	.	.	.	.	.	.	.	.	G	19.80	3.895159	0.72639	.	.	ENSG00000143971	ENST00000272342	T	0.35973	1.28	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	T	0.63954	0.2555	M	0.73962	2.25	0.58432	D	0.999997	D	0.89917	1.0	D	0.97110	1.0	T	0.63637	-0.6592	10	0.87932	D	0	-7.1535	19.848	0.96722	0.0:0.0:1.0:0.0	.	199	Q9NY74	ETAA1_HUMAN	H	199	ENSP00000272342:D199H	ENSP00000272342:D199H	D	+	1	0	ETAA1	67483913	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.096000	0.76960	2.937000	0.99478	0.650000	0.86243	GAT		0.259	ETAA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251735.1	NM_019002		29	65	0	0	0	0	29	65				
CLEC4F	165530	broad.mit.edu	37	2	71043679	71043679	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr2:71043679C>A	ENST00000272367.2	-	4	910	c.834G>T	c.(832-834)ttG>ttT	p.L278F	CLEC4F_ENST00000426626.1_Missense_Mutation_p.L278F	NM_001258027.1|NM_173535.2	NP_001244956.1|NP_775806.2	Q8N1N0	CLC4F_HUMAN	C-type lectin domain family 4, member F	278					endocytosis (GO:0006897)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			endometrium(1)|large_intestine(5)|lung(18)|ovary(5)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	37						TGGCTCCTTCCAAACTATTTC	0.408																																					Colon(107;10 2157 6841 26035)	uc002shf.2		NA																	0				ovary(5)	5						c.(832-834)TTG>TTT		C-type lectin, superfamily member 13							77.0	80.0	79.0					2																	71043679		2203	4298	6501	SO:0001583	missense	165530				endocytosis	integral to membrane	receptor activity|sugar binding	g.chr2:71043679C>A	AK096429	CCDS1910.1	2p13.3	2008-02-05	2005-02-09	2005-02-11	ENSG00000152672	ENSG00000152672		"""C-type lectin domain containing"""	25357	protein-coding gene	gene with protein product			"""C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 13"""	CLECSF13		8889548, 1846367	Standard	NM_001258027		Approved	FLJ39110, KCLR	uc002shf.3	Q8N1N0	OTTHUMG00000129713	ENST00000272367.2:c.834G>T	2.37:g.71043679C>A	ENSP00000272367:p.Leu278Phe					CLEC4F_uc010yqv.1_Missense_Mutation_p.L278F	p.L278F	NM_173535	NP_775806	Q8N1N0	CLC4F_HUMAN			4	911	-			278			Extracellular (Potential).		A4QPA5	Missense_Mutation	SNP	ENST00000272367.2	37	c.834G>T	CCDS1910.1	.	.	.	.	.	.	.	.	.	.	C	18.47	3.630816	0.67015	.	.	ENSG00000152672	ENST00000272367;ENST00000426626	T;T	0.48836	0.8;0.8	4.04	3.16	0.36331	.	0.000000	0.27826	N	0.017699	T	0.62648	0.2445	M	0.73217	2.22	0.09310	N	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	T	0.51880	-0.8649	10	0.72032	D	0.01	.	7.5394	0.27729	0.0:0.8805:0.0:0.1195	.	278;278	B7ZMM1;Q8N1N0	.;CLC4F_HUMAN	F	278	ENSP00000272367:L278F;ENSP00000390581:L278F	ENSP00000272367:L278F	L	-	3	2	CLEC4F	70897187	0.157000	0.22836	0.046000	0.18839	0.859000	0.49053	1.237000	0.32695	1.043000	0.40175	0.313000	0.20887	TTG		0.408	CLEC4F-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251922.1	NM_173535		32	114	1	0	3.99e-17	4.28e-17	32	114				
RAB11FIP5	26056	broad.mit.edu	37	2	73303223	73303223	+	Silent	SNP	C	C	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr2:73303223C>T	ENST00000258098.6	-	4	1896	c.1656G>A	c.(1654-1656)ctG>ctA	p.L552L	RAB11FIP5_ENST00000493523.2_5'UTR	NM_015470.2	NP_056285.1	Q9BXF6	RFIP5_HUMAN	RAB11 family interacting protein 5 (class I)	552					cellular response to acidic pH (GO:0071468)|insulin secretion involved in cellular response to glucose stimulus (GO:0035773)|protein transport (GO:0015031)|regulated secretory pathway (GO:0045055)|regulation of protein localization to cell surface (GO:2000008)	early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|microtubule organizing center (GO:0005815)|mitochondrial outer membrane (GO:0005741)|recycling endosome (GO:0055037)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)			biliary_tract(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	23						GCCCACTGCTCAGGGCTATGC	0.622																																						uc002siu.3		NA																	0					0						c.(1654-1656)CTG>CTA		RAB11 family interacting protein 5 (class I)							140.0	144.0	143.0					2																	73303223		2203	4300	6503	SO:0001819	synonymous_variant	26056				protein transport	mitochondrial outer membrane|recycling endosome membrane	gamma-tubulin binding	g.chr2:73303223C>T	AF334812	CCDS1923.1	2p13	2008-02-05			ENSG00000135631	ENSG00000135631			24845	protein-coding gene	gene with protein product		605536				10048485, 11163216	Standard	NM_015470		Approved	GAF1, KIAA0857, RIP11, pp75	uc002sis.4	Q9BXF6	OTTHUMG00000129779	ENST00000258098.6:c.1656G>A	2.37:g.73303223C>T						RAB11FIP5_uc002sis.3_5'UTR|RAB11FIP5_uc002sit.3_Silent_p.L474L	p.L552L	NM_015470	NP_056285	Q9BXF6	RFIP5_HUMAN			4	1897	-			552					O94939|Q9P0M1	Silent	SNP	ENST00000258098.6	37	c.1656G>A	CCDS1923.1																																																																																				0.622	RAB11FIP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251995.1	NM_015470		27	261	0	0	0	0	27	261				
RAB11FIP5	26056	broad.mit.edu	37	2	73339833	73339833	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr2:73339833C>T	ENST00000258098.6	-	1	313	c.73G>A	c.(73-75)Gtg>Atg	p.V25M	RP11-44N22.3_ENST00000608612.1_RNA	NM_015470.2	NP_056285.1	Q9BXF6	RFIP5_HUMAN	RAB11 family interacting protein 5 (class I)	25	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				cellular response to acidic pH (GO:0071468)|insulin secretion involved in cellular response to glucose stimulus (GO:0035773)|protein transport (GO:0015031)|regulated secretory pathway (GO:0045055)|regulation of protein localization to cell surface (GO:2000008)	early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|microtubule organizing center (GO:0005815)|mitochondrial outer membrane (GO:0005741)|recycling endosome (GO:0055037)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)			biliary_tract(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	23						GCCCGCAGCACCGTCACCTGG	0.751																																						uc002siu.3		NA																	0					0						c.(73-75)GTG>ATG		RAB11 family interacting protein 5 (class I)							8.0	7.0	7.0					2																	73339833		2150	4212	6362	SO:0001583	missense	26056				protein transport	mitochondrial outer membrane|recycling endosome membrane	gamma-tubulin binding	g.chr2:73339833C>T	AF334812	CCDS1923.1	2p13	2008-02-05			ENSG00000135631	ENSG00000135631			24845	protein-coding gene	gene with protein product		605536				10048485, 11163216	Standard	NM_015470		Approved	GAF1, KIAA0857, RIP11, pp75	uc002sis.4	Q9BXF6	OTTHUMG00000129779	ENST00000258098.6:c.73G>A	2.37:g.73339833C>T	ENSP00000258098:p.Val25Met						p.V25M	NM_015470	NP_056285	Q9BXF6	RFIP5_HUMAN			1	314	-			25			C2.		O94939|Q9P0M1	Missense_Mutation	SNP	ENST00000258098.6	37	c.73G>A	CCDS1923.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.576066	0.86645	.	.	ENSG00000135631	ENST00000258098	T	0.79845	-1.31	3.74	3.74	0.42951	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.108387	0.36134	N	0.002775	D	0.89550	0.6747	M	0.90977	3.165	0.49051	D	0.999744	D	0.76494	0.999	D	0.75020	0.985	D	0.89937	0.4070	10	0.87932	D	0	-12.2481	7.2852	0.26335	0.0:0.8798:0.0:0.1202	.	25	Q9BXF6	RFIP5_HUMAN	M	25	ENSP00000258098:V25M	ENSP00000258098:V25M	V	-	1	0	RAB11FIP5	73193341	0.999000	0.42202	0.910000	0.35882	0.954000	0.61252	4.175000	0.58263	2.090000	0.63153	0.561000	0.74099	GTG		0.751	RAB11FIP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251995.1	NM_015470		3	3	0	0	0	0	3	3				
TPRKB	51002	broad.mit.edu	37	2	73959362	73959362	+	Silent	SNP	G	G	C			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr2:73959362G>C	ENST00000272424.5	-	3	298	c.192C>G	c.(190-192)ctC>ctG	p.L64L	TPRKB_ENST00000485758.1_5'Flank|TPRKB_ENST00000409716.2_Silent_p.L103L|TPRKB_ENST00000318190.7_Silent_p.L103L	NM_016058.2	NP_057142.1	Q9Y3C4	TPRKB_HUMAN	TP53RK binding protein	64					tRNA processing (GO:0008033)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)			lung(2)|ovary(1)|skin(1)	4						CCAGTTTGTAGAGGTGAACTG	0.358																																						uc002sjn.2		NA																	0				ovary(1)|skin(1)	2						c.(190-192)CTC>CTG		TP53RK binding protein							142.0	131.0	134.0					2																	73959362		2203	4300	6503	SO:0001819	synonymous_variant	51002				protein catabolic process	cytosol|nucleus	protein kinase binding	g.chr2:73959362G>C	AY157986	CCDS1927.1	2p24.3-p24.1	2008-02-05			ENSG00000144034	ENSG00000144034			24259	protein-coding gene	gene with protein product		608680				10810093, 12659830	Standard	NM_016058		Approved	CGI-121	uc002sjn.2	Q9Y3C4	OTTHUMG00000129815	ENST00000272424.5:c.192C>G	2.37:g.73959362G>C						TPRKB_uc002sjm.2_Silent_p.L103L|TPRKB_uc002sjl.2_Silent_p.L31L|TPRKB_uc002sjo.2_Silent_p.L64L|TPRKB_uc010yrm.1_Silent_p.L31L	p.L64L	NM_016058	NP_057142	Q9Y3C4	TPRKB_HUMAN			3	303	-			64					D6W5H6|Q8IWR6|Q8IWR7|Q9H3K4	Silent	SNP	ENST00000272424.5	37	c.192C>G	CCDS1927.1																																																																																				0.358	TPRKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252046.2	NM_016058		23	52	0	0	0	0	23	52				
RTKN	6242	broad.mit.edu	37	2	74657432	74657432	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr2:74657432C>T	ENST00000233330.6	-	5	659	c.342G>A	c.(340-342)atG>atA	p.M114I	RTKN_ENST00000305557.5_Missense_Mutation_p.M151I|RTKN_ENST00000484453.1_5'Flank|RTKN_ENST00000272430.5_Missense_Mutation_p.M164I	NM_001015056.1	NP_001015056.1			rhotekin											endometrium(3)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	16						CCACTAGGATCATCTCTGTGT	0.547																																						uc002sle.2		NA																	0				skin(1)	1						c.(490-492)ATG>ATA		rhotekin isoform a							101.0	88.0	92.0					2																	74657432		2203	4300	6503	SO:0001583	missense	6242				apoptosis|regulation of anti-apoptosis|Rho protein signal transduction	intracellular	GTP binding|GTP-Rho binding|GTPase inhibitor activity	g.chr2:74657432C>T	AF049227	CCDS1941.1, CCDS33226.1, CCDS42699.1	2p13.1	2013-01-10			ENSG00000114993	ENSG00000114993		"""Pleckstrin homology (PH) domain containing"""	10466	protein-coding gene	gene with protein product		602288				9073523, 10940294	Standard	XM_005264478		Approved	B5	uc002sle.3	Q9BST9	OTTHUMG00000129955	ENST00000233330.6:c.342G>A	2.37:g.74657432C>T	ENSP00000233330:p.Met114Ile					RTKN_uc002slc.2_Missense_Mutation_p.M151I|RTKN_uc002sld.2_Missense_Mutation_p.M114I	p.M164I	NM_001015055	NP_001015055	Q9BST9	RTKN_HUMAN			5	609	-			164						Missense_Mutation	SNP	ENST00000233330.6	37	c.492G>A	CCDS42699.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.120020	0.77323	.	.	ENSG00000114993	ENST00000305557;ENST00000272430;ENST00000233330	T;T;T	0.44482	0.92;0.92;0.92	5.17	5.17	0.71159	.	0.118364	0.85682	D	0.000000	T	0.39489	0.1080	L	0.41573	1.285	0.80722	D	1	B;B	0.27140	0.125;0.169	B;B	0.31442	0.13;0.124	T	0.26883	-1.0090	10	0.52906	T	0.07	.	16.1993	0.82057	0.0:1.0:0.0:0.0	.	164;151	Q9BST9;Q9BST9-2	RTKN_HUMAN;.	I	151;164;114	ENSP00000305298:M151I;ENSP00000272430:M164I;ENSP00000233330:M114I	ENSP00000233330:M114I	M	-	3	0	RTKN	74510940	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.273000	0.78527	2.681000	0.91329	0.655000	0.94253	ATG		0.547	RTKN-004	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000328236.3	NM_001015055		7	36	0	0	0	0	7	36				
GCFC2	6936	broad.mit.edu	37	2	75929407	75929407	+	Missense_Mutation	SNP	C	C	G	rs546484374		TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr2:75929407C>G	ENST00000321027.3	-	3	670	c.537G>C	c.(535-537)gaG>gaC	p.E179D	GCFC2_ENST00000470503.1_Missense_Mutation_p.E179D|GCFC2_ENST00000541687.1_Missense_Mutation_p.E179D|GCFC2_ENST00000409857.3_Intron	NM_001201334.1|NM_003203.4	NP_001188263.1|NP_003194.3	P16383	GCFC2_HUMAN	GC-rich sequence DNA-binding factor 2	179					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)|spliceosomal complex assembly (GO:0000245)	nucleolus (GO:0005730)|nucleus (GO:0005634)|U2-type post-mRNA release spliceosomal complex (GO:0071008)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)										CAGGCTCACTCTCAGGGTCAT	0.423																																						uc002sno.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(535-537)GAG>GAC		hypothetical protein LOC6936							192.0	181.0	185.0					2																	75929407		2203	4300	6503	SO:0001583	missense	6936				negative regulation of transcription, DNA-dependent	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr2:75929407C>G	AB026911	CCDS1961.1, CCDS62943.1	2p12	2014-01-17	2011-11-24	2011-11-24	ENSG00000005436	ENSG00000005436			1317	protein-coding gene	gene with protein product	"""GC binding factor"""	189901	"""transcription factor 9 (binds GC-rich sequences)"", ""chromosome 2 open reading frame 3"""	TCF9, C2orf3		1370479, 2556218, 17309879, 24304693	Standard	NM_003203		Approved	DNABF, GCF	uc002sno.3	P16383	OTTHUMG00000129989	ENST00000321027.3:c.537G>C	2.37:g.75929407C>G	ENSP00000318690:p.Glu179Asp					C2orf3_uc010ffs.2_5'Flank|C2orf3_uc002snn.2_Missense_Mutation_p.E10D|C2orf3_uc010fft.2_5'UTR|C2orf3_uc002snp.3_Missense_Mutation_p.E179D	p.E179D	NM_003203	NP_003194	P16383	GCF_HUMAN			3	667	-			179					A4UHQ8|O95032|Q53TY0|Q6P2F2	Missense_Mutation	SNP	ENST00000321027.3	37	c.537G>C	CCDS1961.1	.	.	.	.	.	.	.	.	.	.	C	9.916	1.210820	0.22289	.	.	ENSG00000005436	ENST00000321027;ENST00000541687	T;T	0.31769	2.61;1.48	4.85	0.984	0.19773	.	0.587114	0.16614	N	0.206772	T	0.21186	0.0510	L	0.27053	0.805	0.25477	N	0.98777	P;P	0.41393	0.748;0.633	P;B	0.45681	0.49;0.294	T	0.12192	-1.0557	10	0.22109	T	0.4	-19.5398	4.903	0.13784	0.0:0.5022:0.1478:0.35	.	179;179	A4UHQ8;P16383	.;GCF_HUMAN	D	179	ENSP00000318690:E179D;ENSP00000437767:E179D	ENSP00000318690:E179D	E	-	3	2	C2orf3	75782915	0.468000	0.25839	0.978000	0.43139	0.869000	0.49853	-0.575000	0.05861	0.051000	0.15978	0.591000	0.81541	GAG		0.423	GCFC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252255.2	NM_003203		40	120	0	0	0	0	40	120				
LRRTM4	80059	broad.mit.edu	37	2	76975904	76975904	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr2:76975904C>G	ENST00000409093.1	-	4	2026	c.1690G>C	c.(1690-1692)Gag>Cag	p.E564Q	LRRTM4_ENST00000409911.1_Missense_Mutation_p.E565Q|LRRTM4_ENST00000409884.1_Missense_Mutation_p.E564Q			Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	564					alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|regulation of presynaptic membrane organization (GO:1901629)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)				autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		CGGCCCAGCTCCAGGCCGGGG	0.602																																						uc002snr.2		NA																	0				pancreas(3)|ovary(1)	4						c.(1690-1692)GAG>CAG		leucine rich repeat transmembrane neuronal 4							125.0	116.0	119.0					2																	76975904		1568	3582	5150	SO:0001583	missense	80059					integral to membrane		g.chr2:76975904C>G	AK122612	CCDS46346.1, CCDS46347.1, CCDS74530.1	2p12	2008-02-05			ENSG00000176204	ENSG00000176204			19411	protein-coding gene	gene with protein product		610870				12676565	Standard	NM_024993		Approved	FLJ12568	uc002snr.3	Q86VH4	OTTHUMG00000152842	ENST00000409093.1:c.1690G>C	2.37:g.76975904C>G	ENSP00000386357:p.Glu564Gln					LRRTM4_uc002snq.2_Missense_Mutation_p.E564Q	p.E564Q	NM_001134745	NP_001128217	Q86VH4	LRRT4_HUMAN		Colorectal(11;0.059)	4	2105	-			564			Cytoplasmic (Potential).		Q4FZ98|Q6UXJ7	Missense_Mutation	SNP	ENST00000409093.1	37	c.1690G>C	CCDS46346.1	.	.	.	.	.	.	.	.	.	.	C	12.07	1.827727	0.32329	.	.	ENSG00000176204	ENST00000409911;ENST00000409884;ENST00000409093	T;T;T	0.59364	0.27;0.3;0.3	5.91	5.03	0.67393	.	.	.	.	.	T	0.42517	0.1206	N	0.19112	0.55	0.80722	D	1	B	0.23650	0.089	B	0.20955	0.032	T	0.35001	-0.9806	9	0.52906	T	0.07	.	12.1016	0.53788	0.0:0.9182:0.0:0.0818	.	564	Q86VH4	LRRT4_HUMAN	Q	565;564;564	ENSP00000387228:E565Q;ENSP00000387297:E564Q;ENSP00000386357:E564Q	ENSP00000386357:E564Q	E	-	1	0	LRRTM4	76829412	1.000000	0.71417	1.000000	0.80357	0.156000	0.22039	3.942000	0.56614	2.799000	0.96334	0.650000	0.86243	GAG		0.602	LRRTM4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000328225.1	NM_024993		32	121	0	0	0	0	32	121				
ZNF514	84874	broad.mit.edu	37	2	95815860	95815860	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr2:95815860C>T	ENST00000295208.2	-	5	832	c.370G>A	c.(370-372)Gag>Aag	p.E124K	MRPS5_ENST00000475040.1_5'Flank|ZNF514_ENST00000411425.1_Missense_Mutation_p.E124K	NM_032788.1	NP_116177.1	Q96K75	ZN514_HUMAN	zinc finger protein 514	124					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(4)|lung(6)|urinary_tract(1)	11						TGCTGCATCTCTAACTGGCCA	0.423																																						uc002sue.1		NA																	0					0						c.(370-372)GAG>AAG		zinc finger protein 514							117.0	115.0	116.0					2																	95815860		2203	4300	6503	SO:0001583	missense	84874				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr2:95815860C>T	AL832263	CCDS2011.1	2q11.2	2013-01-08			ENSG00000144026	ENSG00000144026		"""Zinc fingers, C2H2-type"", ""-"""	25894	protein-coding gene	gene with protein product							Standard	NM_032788		Approved	FLJ14457	uc002sue.1	Q96K75	OTTHUMG00000130391	ENST00000295208.2:c.370G>A	2.37:g.95815860C>T	ENSP00000295208:p.Glu124Lys					ZNF514_uc002sud.1_Missense_Mutation_p.E197K	p.E124K	NM_032788	NP_116177	Q96K75	ZN514_HUMAN			5	744	-			124					Q5JPJ3	Missense_Mutation	SNP	ENST00000295208.2	37	c.370G>A	CCDS2011.1	.	.	.	.	.	.	.	.	.	.	C	13.79	2.342276	0.41498	.	.	ENSG00000144026	ENST00000295208;ENST00000411425	T;T	0.05513	3.43;3.43	3.18	3.18	0.36537	.	.	.	.	.	T	0.10852	0.0265	L	0.50333	1.59	0.19775	N	0.999959	D	0.56968	0.978	P	0.50537	0.643	T	0.20974	-1.0259	9	0.20046	T	0.44	.	12.6059	0.56523	0.0:1.0:0.0:0.0	.	124	Q96K75	ZN514_HUMAN	K	124	ENSP00000295208:E124K;ENSP00000405509:E124K	ENSP00000295208:E124K	E	-	1	0	ZNF514	95179587	0.041000	0.20044	0.893000	0.35052	0.943000	0.58893	1.461000	0.35255	2.065000	0.61736	0.655000	0.94253	GAG		0.423	ZNF514-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252769.1	NM_032788		40	82	0	0	0	0	40	82				
ZNF514	84874	broad.mit.edu	37	2	95818421	95818421	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr2:95818421G>A	ENST00000295208.2	-	4	677	c.215C>T	c.(214-216)tCa>tTa	p.S72L	ZNF514_ENST00000411425.1_Missense_Mutation_p.S72L	NM_032788.1	NP_116177.1	Q96K75	ZN514_HUMAN	zinc finger protein 514	72	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(4)|lung(6)|urinary_tract(1)	11						TCACTCACCTGAGTGGGCTCC	0.522																																						uc002sue.1		NA																	0					0						c.(214-216)TCA>TTA		zinc finger protein 514							133.0	123.0	127.0					2																	95818421		2203	4300	6503	SO:0001583	missense	84874				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr2:95818421G>A	AL832263	CCDS2011.1	2q11.2	2013-01-08			ENSG00000144026	ENSG00000144026		"""Zinc fingers, C2H2-type"", ""-"""	25894	protein-coding gene	gene with protein product							Standard	NM_032788		Approved	FLJ14457	uc002sue.1	Q96K75	OTTHUMG00000130391	ENST00000295208.2:c.215C>T	2.37:g.95818421G>A	ENSP00000295208:p.Ser72Leu					ZNF514_uc002sud.1_Missense_Mutation_p.S145L	p.S72L	NM_032788	NP_116177	Q96K75	ZN514_HUMAN			4	589	-			72			KRAB.		Q5JPJ3	Missense_Mutation	SNP	ENST00000295208.2	37	c.215C>T	CCDS2011.1	.	.	.	.	.	.	.	.	.	.	G	8.121	0.780962	0.16120	.	.	ENSG00000144026	ENST00000295208;ENST00000411425	T;T	0.05717	3.4;3.4	2.39	1.48	0.22813	Krueppel-associated box (1);	.	.	.	.	T	0.03959	0.0111	N	0.17474	0.49	0.20196	N	0.999924	B	0.02656	0.0	B	0.01281	0.0	T	0.41538	-0.9503	9	0.44086	T	0.13	.	5.1132	0.14821	0.1792:0.0:0.8208:0.0	.	72	Q96K75	ZN514_HUMAN	L	72	ENSP00000295208:S72L;ENSP00000405509:S72L	ENSP00000295208:S72L	S	-	2	0	ZNF514	95182148	0.059000	0.20769	0.298000	0.25002	0.072000	0.16883	1.179000	0.31993	0.323000	0.23307	0.655000	0.94253	TCA		0.522	ZNF514-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252769.1	NM_032788		54	150	0	0	0	0	54	150				
FER1L5	90342	broad.mit.edu	37	2	97361634	97361634	+	RNA	SNP	G	G	C			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr2:97361634G>C	ENST00000457909.1	+	0	3553							A0AVI2	FR1L5_HUMAN	fer-1-like family member 5							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(9)|large_intestine(9)|lung(6)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	38						TGCACCCAAAGCTTCCAAGTA	0.632																																						uc010fia.2		NA																	0				ovary(1)	1						c.(4129-4131)AAG>AAC		fer-1-like 5 isoform 2							36.0	43.0	41.0					2																	97361634		2059	4178	6237			90342					integral to membrane		g.chr2:97361634G>C	BC126368		2q11.2	2014-06-27	2014-06-27		ENSG00000249715	ENSG00000249715			19044	protein-coding gene	gene with protein product			"""fer-1-like 5 (C. elegans)"""				Standard	XM_006712826		Approved	DKFZp434I0121	uc010fia.3	A0AVI2	OTTHUMG00000154929		2.37:g.97361634G>C						FER1L5_uc002sws.3_Missense_Mutation_p.K95N|FER1L5_uc010fib.1_RNA|FER1L5_uc002swt.3_Missense_Mutation_p.K95N|FER1L5_uc010yus.1_Missense_Mutation_p.K94N	p.K1377N	NM_001113382	NP_001106853	A0AVI2	FR1L5_HUMAN			35	4131	+			1377					Q17RH2|Q6ZU24	Missense_Mutation	SNP	ENST00000457909.1	37	c.4131G>C		.	.	.	.	.	.	.	.	.	.	G	9.047	0.991108	0.18966	.	.	ENSG00000214272	ENST00000414152;ENST00000436930;ENST00000397978	.	.	.	4.28	2.37	0.29283	C2 calcium/lipid-binding domain, CaLB (1);	347.763000	0.00447	U	0.000087	T	0.38241	0.1033	L	0.54323	1.7	.	.	.	B;P;B	0.34462	0.148;0.454;0.231	B;B;B	0.21917	0.016;0.037;0.035	T	0.35226	-0.9797	8	0.52906	T	0.07	-4.409	7.605	0.28097	0.1042:0.182:0.7138:0.0	.	94;1377;95	B7ZLI3;A0AVI2;A0AVI2-2	.;FR1L5_HUMAN;.	N	1377;1391;95	.	ENSP00000442027:K95N	K	+	3	2	FER1L5	96725361	0.003000	0.15002	0.066000	0.19879	0.716000	0.41182	0.609000	0.24238	1.030000	0.39839	0.467000	0.42956	AAG		0.632	FER1L5-001	KNOWN	basic|exp_conf	retained_intron	pseudogene	OTTHUMT00000339030.1	NM_001077400		6	29	0	0	0	0	6	29				
ANKRD36	375248	broad.mit.edu	37	2	97869931	97869931	+	Missense_Mutation	SNP	A	A	T	rs76309140		TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr2:97869931A>T	ENST00000461153.2	+	50	3236	c.2992A>T	c.(2992-2994)Aca>Tca	p.T998S	ANKRD36_ENST00000420699.2_Missense_Mutation_p.T998S			A6QL64	AN36A_HUMAN	ankyrin repeat domain 36	998								p.T998S(13)		endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						CATTCAGGCTACAAGTGATGA	0.289																																						uc010yva.1		NA																	13	Substitution - Missense(13)		kidney(6)|endometrium(4)|prostate(3)		0						c.(2992-2994)ACA>TCA		ankyrin repeat domain 36							37.0	44.0	42.0					2																	97869931		692	1587	2279	SO:0001583	missense	375248							g.chr2:97869931A>T	BC046186	CCDS54379.1	2q11.2	2013-09-24			ENSG00000135976	ENSG00000135976		"""Ankyrin repeat domain containing"""	24079	protein-coding gene	gene with protein product						12975309	Standard	NM_001164315		Approved	UNQ2430	uc010yva.2	A6QL64	OTTHUMG00000155256	ENST00000461153.2:c.2992A>T	2.37:g.97869931A>T	ENSP00000419530:p.Thr998Ser					ANKRD36_uc002sxp.3_RNA	p.T998S	NM_001164315	NP_001157787	A6QL64	AN36A_HUMAN			50	3236	+			998					B4E3I8|Q6UX02|Q86X62|Q9HCD1	Missense_Mutation	SNP	ENST00000461153.2	37	c.2992A>T	CCDS54379.1	.	.	.	.	.	.	.	.	.	.	.	3.819	-0.038219	0.07497	.	.	ENSG00000135976	ENST00000461153;ENST00000420699;ENST00000461694	T;T	0.32753	1.44;1.44	0.63	-0.824	0.10812	.	.	.	.	.	T	0.14056	0.0340	L	0.27053	0.805	0.09310	N	1	P	0.40476	0.718	B	0.28849	0.095	T	0.12837	-1.0532	8	0.38643	T	0.18	.	.	.	.	.	998	A6QL64	AN36A_HUMAN	S	998;998;360	ENSP00000419530:T998S;ENSP00000391950:T998S	ENSP00000391950:T998S	T	+	1	0	ANKRD36	97233658	0.019000	0.18553	0.011000	0.14972	0.022000	0.10575	-0.850000	0.04317	-0.324000	0.08589	0.147000	0.16070	ACA		0.289	ANKRD36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339154.5			4	37	0	0	0	0	4	37				
ZC3H8	84524	broad.mit.edu	37	2	112989456	112989456	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr2:112989456G>A	ENST00000409573.2	-	7	931	c.802C>T	c.(802-804)Cat>Tat	p.H268Y	ZC3H8_ENST00000476902.1_5'UTR|ZC3H8_ENST00000272570.5_Missense_Mutation_p.H268Y			Q8N5P1	ZC3H8_HUMAN	zinc finger CCCH-type containing 8	268					apoptotic process (GO:0006915)|negative regulation of T cell differentiation in thymus (GO:0033085)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|response to antibiotic (GO:0046677)|snRNA transcription from RNA polymerase II promoter (GO:0042795)|snRNA transcription from RNA polymerase III promoter (GO:0042796)|T cell homeostasis (GO:0043029)	Cajal body (GO:0015030)|histone locus body (GO:0035363)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)|transcriptionally active chromatin (GO:0035327)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)	7						AGTGGAGCATGAGAAAACTTG	0.303																																						uc002thp.2		NA																	0					0						c.(802-804)CAT>TAT		zinc finger CCCH-type containing 8							117.0	112.0	114.0					2																	112989456		1923	4176	6099	SO:0001583	missense	84524				apoptosis|negative regulation of T cell differentiation in thymus|negative regulation of transcription, DNA-dependent|positive regulation of thymocyte apoptosis|response to antibiotic|T cell homeostasis	nucleus	RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:112989456G>A	AF334161	CCDS46392.1	2q13	2012-07-05	2005-06-02	2005-06-02	ENSG00000144161	ENSG00000144161		"""Zinc fingers, CCCH-type domain containing"""	30941	protein-coding gene	gene with protein product			"""zinc finger CCCH-type domain containing 8"""	ZC3HDC8		12477932	Standard	NM_032494		Approved	Fliz1	uc021vmw.1	Q8N5P1	OTTHUMG00000153270	ENST00000409573.2:c.802C>T	2.37:g.112989456G>A	ENSP00000386488:p.His268Tyr						p.H268Y	NM_032494	NP_115883	Q8N5P1	ZC3H8_HUMAN			7	908	-			268			C3H1-type 3.		Q9BZ75	Missense_Mutation	SNP	ENST00000409573.2	37	c.802C>T	CCDS46392.1	.	.	.	.	.	.	.	.	.	.	G	18.61	3.661098	0.67700	.	.	ENSG00000144161	ENST00000409573;ENST00000272570	T;T	0.69040	-0.37;-0.37	4.73	4.73	0.59995	Zinc finger, CCCH-type (2);	0.167136	0.51477	N	0.000092	D	0.82706	0.5095	M	0.81614	2.55	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	D	0.85377	0.1117	10	0.87932	D	0	-23.0512	17.8563	0.88764	0.0:0.0:1.0:0.0	.	268	Q8N5P1	ZC3H8_HUMAN	Y	268	ENSP00000386488:H268Y;ENSP00000272570:H268Y	ENSP00000272570:H268Y	H	-	1	0	ZC3H8	112705927	1.000000	0.71417	0.944000	0.38274	0.588000	0.36517	8.897000	0.92532	2.602000	0.87976	0.462000	0.41574	CAT		0.303	ZC3H8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330521.3	NM_032494		20	81	0	0	0	0	20	81				
POLR1B	84172	broad.mit.edu	37	2	113322029	113322029	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr2:113322029G>C	ENST00000263331.5	+	10	2279	c.1699G>C	c.(1699-1701)Gat>Cat	p.D567H	POLR1B_ENST00000417433.2_Missense_Mutation_p.D511H|POLR1B_ENST00000537335.1_Missense_Mutation_p.D356H|POLR1B_ENST00000541869.1_Missense_Mutation_p.D605H|POLR1B_ENST00000409894.3_Intron	NM_019014.4	NP_061887.2	Q9H9Y6	RPA2_HUMAN	polymerase (RNA) I polypeptide B, 128kDa	567					gene expression (GO:0010467)|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)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|ribonucleoside binding (GO:0032549)			breast(3)|endometrium(9)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42						TGGCTGGGTGGATAAGGATCT	0.507																																					Ovarian(16;256 576 9537 23969 41147)	uc002thw.2		NA																	0				ovary(1)	1						c.(1699-1701)GAT>CAT		RNA polymerase I polypeptide B isoform 1							268.0	236.0	247.0					2																	113322029		2203	4300	6503	SO:0001583	missense	84172				termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding	g.chr2:113322029G>C	AK001678	CCDS2097.1, CCDS46395.1, CCDS62988.1, CCDS62989.1, CCDS62990.1	2q13	2013-01-21			ENSG00000125630	ENSG00000125630		"""RNA polymerase subunits"""	20454	protein-coding gene	gene with protein product		602000					Standard	NM_001137604		Approved	Rpo1-2, FLJ21921, FLJ10816, RPA2	uc002thw.2	Q9H9Y6	OTTHUMG00000131314	ENST00000263331.5:c.1699G>C	2.37:g.113322029G>C	ENSP00000263331:p.Asp567His					POLR1B_uc010fkn.2_Missense_Mutation_p.D511H|POLR1B_uc002thx.2_Missense_Mutation_p.D428H|POLR1B_uc010fko.2_Intron|POLR1B_uc010fkp.2_Missense_Mutation_p.D6H|POLR1B_uc010yxn.1_Missense_Mutation_p.D605H|POLR1B_uc002thy.2_Missense_Mutation_p.D428H|POLR1B_uc010yxo.1_Missense_Mutation_p.D344H	p.D567H	NM_019014	NP_061887	Q9H9Y6	RPA2_HUMAN			10	2279	+			567					B7Z6Y7|B7Z823|F5GZX4|F8W898|Q2TAM4|Q585T5|Q6ZRR2|Q9H9D3	Missense_Mutation	SNP	ENST00000263331.5	37	c.1699G>C	CCDS2097.1	.	.	.	.	.	.	.	.	.	.	G	14.15	2.450225	0.43531	.	.	ENSG00000125630	ENST00000263331;ENST00000541869;ENST00000537335;ENST00000417433;ENST00000458012	T;T;T;T;T	0.77098	-1.07;-1.07;-1.07;-1.07;-1.07	5.83	5.83	0.93111	RNA polymerase I, Rpa2 specific (1);	0.099725	0.64402	D	0.000002	T	0.70919	0.3279	N	0.08118	0	0.58432	D	0.999998	P;B;B	0.39003	0.654;0.001;0.395	P;B;P	0.46940	0.532;0.012;0.459	T	0.73180	-0.4064	10	0.42905	T	0.14	-21.5143	18.9071	0.92467	0.0:0.0:1.0:0.0	.	605;511;567	F5GZX4;Q9H9Y6-2;Q9H9Y6	.;.;RPA2_HUMAN	H	567;605;356;511;31	ENSP00000263331:D567H;ENSP00000444136:D605H;ENSP00000437914:D356H;ENSP00000405358:D511H;ENSP00000394408:D31H	ENSP00000263331:D567H	D	+	1	0	POLR1B	113038500	1.000000	0.71417	0.999000	0.59377	0.870000	0.49936	9.411000	0.97342	2.755000	0.94549	0.650000	0.86243	GAT		0.507	POLR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254083.1	NM_019014		42	212	0	0	0	0	42	212				
KYNU	8942	broad.mit.edu	37	2	143790866	143790866	+	Silent	SNP	C	C	G			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr2:143790866C>G	ENST00000264170.4	+	12	1275	c.1017C>G	c.(1015-1017)gtC>gtG	p.V339V	KYNU_ENST00000409512.1_Silent_p.V339V	NM_003937.2	NP_003928.1			kynureninase											large_intestine(10)|liver(1)|lung(18)|prostate(3)|skin(4)	36				BRCA - Breast invasive adenocarcinoma(221;0.072)		TTTTGTTGGTCTGTTCCTTGC	0.378																																						uc002tvl.2		NA																	0				skin(2)	2						c.(1015-1017)GTC>GTG		kynureninase (L-kynurenine hydrolase) isoform a	L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)						335.0	323.0	327.0					2																	143790866		2203	4300	6503	SO:0001819	synonymous_variant	8942				anthranilate metabolic process|NAD biosynthetic process|quinolinate biosynthetic process|response to interferon-gamma|response to vitamin B6	cytosol|mitochondrion|soluble fraction	kynureninase activity|protein homodimerization activity	g.chr2:143790866C>G	U57721	CCDS2183.1, CCDS33299.1	2q22.2	2010-11-23	2010-11-23		ENSG00000115919	ENSG00000115919	3.7.1.3		6469	protein-coding gene	gene with protein product	"""L-kynurenine hydrolase"""	605197	"""kynureninase (L-kynurenine hydrolase)"""			8706755, 9180257	Standard	NM_001199241		Approved		uc002tvl.3	Q16719	OTTHUMG00000131829	ENST00000264170.4:c.1017C>G	2.37:g.143790866C>G						KYNU_uc010fnm.2_Silent_p.V339V	p.V339V	NM_003937	NP_003928	Q16719	KYNU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.072)	12	1147	+			339						Silent	SNP	ENST00000264170.4	37	c.1017C>G	CCDS2183.1																																																																																				0.378	KYNU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254772.1	NM_001032998		10	179	0	0	0	0	10	179				
LRP2	4036	broad.mit.edu	37	2	170115654	170115654	+	Silent	SNP	G	G	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr2:170115654G>T	ENST00000263816.3	-	17	2679	c.2394C>A	c.(2392-2394)ctC>ctA	p.L798L	LRP2_ENST00000443831.1_Silent_p.L661L	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	798					cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	CTGTCCAATAGAGATTCTTTG	0.378																																						uc002ues.2		NA																	0				ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29						c.(2392-2394)CTC>CTA		low density lipoprotein-related protein 2	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)						123.0	126.0	125.0					2																	170115654		2203	4300	6503	SO:0001819	synonymous_variant	4036				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	g.chr2:170115654G>T		CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.2394C>A	2.37:g.170115654G>T						LRP2_uc010zdf.1_Silent_p.L661L	p.L798L	NM_004525	NP_004516	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	17	2607	-			798			LDL-receptor class B 7.|Extracellular (Potential).		O00711|Q16215	Silent	SNP	ENST00000263816.3	37	c.2394C>A	CCDS2232.1																																																																																				0.378	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		38	66	1	0	2.05e-20	2.2e-20	38	66				
HAT1	8520	broad.mit.edu	37	2	172822934	172822934	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr2:172822934G>C	ENST00000264108.4	+	7	652	c.616G>C	c.(616-618)Gag>Cag	p.E206Q	HAT1_ENST00000392584.1_Missense_Mutation_p.E121Q|SLC25A12_ENST00000472748.1_Intron	NM_003642.3	NP_003633.1	O14929	HAT1_HUMAN	histone acetyltransferase 1	206					chromatin organization (GO:0006325)|chromatin silencing at telomere (GO:0006348)|DNA packaging (GO:0006323)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone H4 acetylation (GO:0043967)|internal protein amino acid acetylation (GO:0006475)|response to nutrient (GO:0007584)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	H4 histone acetyltransferase activity (GO:0010485)|histone acetyltransferase activity (GO:0004402)			breast(1)|kidney(1)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|prostate(1)	19			OV - Ovarian serous cystadenocarcinoma(117;0.216)			CTGCAGATTTGAGAAGTATAA	0.438																																						uc002uhi.2		NA																	0				large_intestine(1)|ovary(1)	2						c.(616-618)GAG>CAG		histone acetyltransferase 1							105.0	98.0	101.0					2																	172822934		2203	4300	6503	SO:0001583	missense	8520				chromatin silencing at telomere|DNA packaging	cytoplasm|nuclear matrix|nucleoplasm	histone acetyltransferase activity|protein binding	g.chr2:172822934G>C	AF030424	CCDS2245.1	2q31.2-q33.1	2011-07-01			ENSG00000128708	ENSG00000128708	2.3.1.48	"""Chromatin-modifying enzymes / K-acetyltransferases"""	4821	protein-coding gene	gene with protein product		603053				9427644	Standard	NM_003642		Approved	KAT1	uc002uhi.3	O14929	OTTHUMG00000132282	ENST00000264108.4:c.616G>C	2.37:g.172822934G>C	ENSP00000264108:p.Glu206Gln					HAT1_uc010fqi.2_Missense_Mutation_p.E41Q|HAT1_uc002uhj.2_Missense_Mutation_p.E121Q	p.E206Q	NM_003642	NP_003633	O14929	HAT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.216)		7	692	+			206					Q49A44|Q53QF0|Q53SU4|Q6P594|Q8WWB9	Missense_Mutation	SNP	ENST00000264108.4	37	c.616G>C	CCDS2245.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.327846	0.81690	.	.	ENSG00000128708	ENST00000392584;ENST00000264108	.	.	.	5.47	5.47	0.80525	Acyl-CoA N-acyltransferase (2);	0.000000	0.85682	D	0.000000	D	0.83571	0.5283	M	0.79926	2.475	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.995	D	0.85480	0.1178	9	0.87932	D	0	-17.7856	19.3188	0.94229	0.0:0.0:1.0:0.0	.	121;206	O14929-2;O14929	.;HAT1_HUMAN	Q	121;206	.	ENSP00000264108:E206Q	E	+	1	0	HAT1	172531180	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.585000	0.87301	0.591000	0.81541	GAG		0.438	HAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255377.1	NM_003642		3	40	0	0	0	0	3	40				
EVX2	344191	broad.mit.edu	37	2	176948129	176948129	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr2:176948129G>A	ENST00000308618.4	-	1	512	c.376C>T	c.(376-378)Cgc>Tgc	p.R126C		NM_001080458.1	NP_001073927.1	Q03828	EVX2_HUMAN	even-skipped homeobox 2	126					limb morphogenesis (GO:0035108)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			kidney(1)|large_intestine(3)|liver(1)|lung(8)|ovary(3)	16			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	READ - Rectum adenocarcinoma(9;0.0678)|Colorectal(32;0.115)		CCGGGGGAGCGAAGCGCGGAG	0.682																																						uc010zeu.1		NA																	0				ovary(2)	2						c.(376-378)CGC>TGC		even-skipped homeobox 2							18.0	22.0	21.0					2																	176948129		2201	4297	6498	SO:0001583	missense	344191					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:176948129G>A		CCDS33333.1	2q31.1	2012-03-09	2007-02-15		ENSG00000174279	ENSG00000174279		"""Homeoboxes / ANTP class : HOXL subclass"""	3507	protein-coding gene	gene with protein product		142991	"""eve, even-skipped homeobox homolog 2 (Drosophila)"""			1675198	Standard	NM_001080458		Approved		uc010zeu.2	Q03828	OTTHUMG00000154173	ENST00000308618.4:c.376C>T	2.37:g.176948129G>A	ENSP00000312385:p.Arg126Cys						p.R126C	NM_001080458	NP_001073927	Q03828	EVX2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	READ - Rectum adenocarcinoma(9;0.0678)|Colorectal(32;0.115)	1	562	-			126						Missense_Mutation	SNP	ENST00000308618.4	37	c.376C>T	CCDS33333.1	.	.	.	.	.	.	.	.	.	.	G	19.89	3.910180	0.72983	.	.	ENSG00000174279	ENST00000308618	D	0.91407	-2.84	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	D	0.88142	0.6357	L	0.49126	1.545	0.80722	D	1	B	0.29716	0.255	B	0.19148	0.024	D	0.86149	0.1586	10	0.52906	T	0.07	-23.5792	19.2581	0.93955	0.0:0.0:1.0:0.0	.	126	Q03828	EVX2_HUMAN	C	126	ENSP00000312385:R126C	ENSP00000312385:R126C	R	-	1	0	EVX2	176656375	1.000000	0.71417	1.000000	0.80357	0.889000	0.51656	7.548000	0.82154	2.547000	0.85894	0.655000	0.94253	CGC		0.682	EVX2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359252.1			6	13	0	0	0	0	6	13				
TTC30B	150737	broad.mit.edu	37	2	178415907	178415907	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr2:178415907C>G	ENST00000408939.3	-	1	1835	c.1585G>C	c.(1585-1587)Gag>Cag	p.E529Q		NM_152517.2	NP_689730.2	Q8N4P2	TT30B_HUMAN	tetratricopeptide repeat domain 30B	529					cilium assembly (GO:0042384)|intraciliary transport (GO:0042073)	cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)				cervix(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	23			OV - Ovarian serous cystadenocarcinoma(117;0.00151)|Epithelial(96;0.00931)|all cancers(119;0.0362)			GAGAGCTGCTCTTCCTCCTTT	0.378																																						uc002uln.2		NA																	0					0						c.(1585-1587)GAG>CAG		tetratricopeptide repeat domain 30B							225.0	233.0	230.0					2																	178415907		2203	4300	6503	SO:0001583	missense	150737				cell projection organization	cilium	binding	g.chr2:178415907C>G	AK055552	CCDS42784.1	2q31.2	2014-02-21			ENSG00000196659	ENSG00000196659		"""Tetratricopeptide (TTC) repeat domain containing"", ""Intraflagellar transport homologs"""	26425	protein-coding gene	gene with protein product						12477932	Standard	NM_152517		Approved	FLJ30990, fleer, IFT70	uc002uln.3	Q8N4P2	OTTHUMG00000154166	ENST00000408939.3:c.1585G>C	2.37:g.178415907C>G	ENSP00000386181:p.Glu529Gln					TTC30B_uc010zfc.1_Missense_Mutation_p.E301Q	p.E529Q	NM_152517	NP_689730	Q8N4P2	TT30B_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00151)|Epithelial(96;0.00931)|all cancers(119;0.0362)		1	1618	-			529			Potential.		Q63HQ1|Q96NE6	Missense_Mutation	SNP	ENST00000408939.3	37	c.1585G>C	CCDS42784.1	.	.	.	.	.	.	.	.	.	.	C	12.06	1.824639	0.32237	.	.	ENSG00000196659	ENST00000500357;ENST00000408939	T	0.20881	2.04	4.87	3.99	0.46301	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	T	0.31199	0.0789	M	0.82716	2.605	0.80722	D	1	B	0.28378	0.209	B	0.31812	0.136	T	0.26258	-1.0108	10	0.54805	T	0.06	.	14.0739	0.64877	0.0:0.9231:0.0:0.0769	.	529	Q8N4P2	TT30B_HUMAN	Q	482;529	ENSP00000386181:E529Q	ENSP00000386181:E529Q	E	-	1	0	TTC30B	178124153	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.544000	0.53640	2.675000	0.91044	0.655000	0.94253	GAG		0.378	TTC30B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334193.2	NM_152517		64	143	0	0	0	0	64	143				
TTN	7273	broad.mit.edu	37	2	179428814	179428814	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr2:179428814G>C	ENST00000591111.1	-	276	77346	c.77122C>G	c.(77122-77124)Ctg>Gtg	p.L25708V	TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.L27349V|TTN_ENST00000359218.5_Missense_Mutation_p.L18409V|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.L24781V|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.L18284V|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.L18476V			Q8WZ42	TITIN_HUMAN	titin	25708	Ig-like 125.				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)			CTGAGTTTCAGAATATATTGT	0.413																																						uc010zfg.1		NA																	0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(74341-74343)CTG>GTG		titin isoform N2-A							163.0	161.0	162.0					2																	179428814		1860	4113	5973	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179428814G>C	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.77122C>G	2.37:g.179428814G>C	ENSP00000465570:p.Leu25708Val					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.L18476V|TTN_uc010zfi.1_Missense_Mutation_p.L18409V|TTN_uc010zfj.1_Missense_Mutation_p.L18284V	p.L24781V	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		275	74565	-			25708					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.74341C>G		.	.	.	.	.	.	.	.	.	.	G	9.665	1.145092	0.21288	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.39997	1.05;1.05;1.05;1.05	6.07	3.3	0.37823	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.54951	0.1890	L	0.51422	1.61	0.47511	D	0.999444	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.87578	0.998;0.998;0.998;0.998	T	0.55490	-0.8133	9	0.87932	D	0	.	9.7256	0.40330	0.2646:0.0:0.7354:0.0	.	18284;18409;18476;25708	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	V	24781;18284;18476;18409;18282	ENSP00000343764:L24781V;ENSP00000434586:L18284V;ENSP00000340554:L18476V;ENSP00000352154:L18409V	ENSP00000340554:L18476V	L	-	1	2	TTN	179137060	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	3.492000	0.53259	0.901000	0.36495	0.650000	0.86243	CTG		0.413	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		29	173	0	0	0	0	29	173				
TTN	7273	broad.mit.edu	37	2	179572396	179572396	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr2:179572396G>A	ENST00000591111.1	-	98	28171	c.27947C>T	c.(27946-27948)tCa>tTa	p.S9316L	TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.S9633L|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.S8389L|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Intron			Q8WZ42	TITIN_HUMAN	titin	13432	Ig-like 76.				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)			GCATCTGTCTGAAGGCTTTAT	0.483																																						uc010zfg.1		NA																	0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(25165-25167)TCA>TTA		titin isoform N2-A							91.0	85.0	87.0					2																	179572396		1970	4149	6119	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179572396G>A	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.27947C>T	2.37:g.179572396G>A	ENSP00000465570:p.Ser9316Leu					TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.S5050L	p.S8389L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		97	25390	-			9316					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.25166C>T		.	.	.	.	.	.	.	.	.	.	G	13.68	2.310704	0.40895	.	.	ENSG00000155657	ENST00000342992	T	0.47528	0.84	5.55	5.55	0.83447	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.63640	0.2528	M	0.72576	2.205	0.80722	D	1	P	0.49253	0.921	P	0.52957	0.714	T	0.66484	-0.5912	9	0.87932	D	0	.	19.8667	0.96806	0.0:0.0:1.0:0.0	.	9316	Q8WZ42	TITIN_HUMAN	L	8389	ENSP00000343764:S8389L	ENSP00000343764:S8389L	S	-	2	0	TTN	179280641	1.000000	0.71417	0.998000	0.56505	0.684000	0.39900	4.613000	0.61176	2.773000	0.95371	0.655000	0.94253	TCA		0.483	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		18	36	0	0	0	0	18	36				
TTN	7273	broad.mit.edu	37	2	179611231	179611231	+	Intron	SNP	G	G	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr2:179611231G>A	ENST00000591111.1	-	46	10585				TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000360870.5_Missense_Mutation_p.T5299I|TTN_ENST00000342175.6_Intron			Q8WZ42	TITIN_HUMAN	titin						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)			TGATGATGTGGTGTGTTCCAA	0.408																																						uc002unb.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.(15895-15897)ACC>ATC		titin isoform novex-3							113.0	107.0	109.0					2																	179611231		2203	4299	6502	SO:0001627	intron_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179611231G>A	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.10361-4583C>T	2.37:g.179611231G>A						TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron	p.T5299I	NM_133379	NP_596870	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		46	16120	-			8817					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.15896C>T		.	.	.	.	.	.	.	.	.	.	G	10.13	1.265151	0.23136	.	.	ENSG00000155657	ENST00000360870;ENST00000306136	T	0.58797	0.31	5.88	1.47	0.22746	.	.	.	.	.	T	0.51736	0.1692	N	0.22421	0.69	0.09310	N	1	D	0.58268	0.982	P	0.54499	0.754	T	0.41215	-0.9521	9	0.34782	T	0.22	.	9.344	0.38098	0.0:0.2772:0.4215:0.3013	.	5299	Q8WZ42-6	.	I	5299;580	ENSP00000354117:T5299I	ENSP00000304714:T580I	T	-	2	0	TTN	179319476	0.004000	0.15560	0.015000	0.15790	0.844000	0.47949	1.066000	0.30604	0.332000	0.23536	0.655000	0.94253	ACC		0.408	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		13	34	0	0	0	0	13	34				
CFLAR	8837	broad.mit.edu	37	2	202025553	202025553	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr2:202025553G>A	ENST00000309955.3	+	9	1707	c.1192G>A	c.(1192-1194)Gaa>Aaa	p.E398K	CFLAR_ENST00000479953.2_Missense_Mutation_p.E302K|CFLAR_ENST00000340870.5_Missense_Mutation_p.E398K|CFLAR_ENST00000423241.2_Missense_Mutation_p.E398K|CFLAR_ENST00000341582.6_Missense_Mutation_p.E363K|CFLAR_ENST00000355558.4_Intron|CFLAR_ENST00000443227.1_Missense_Mutation_p.E302K|CFLAR_ENST00000457277.1_Missense_Mutation_p.E398K	NM_001202515.1|NM_003879.5	NP_001189444.1|NP_003870.4	O15519	CFLAR_HUMAN	CASP8 and FADD-like apoptosis regulator	398	Interaction with TRAF1 and TRAF2.|Interaction with caspase-3.|Interaction with caspase-8 subunits p18 and p10.|Interaction with caspase-8.|Not proteolytically processed and involved in apoptosis inhibition.				apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of myoblast fusion (GO:1901740)|positive regulation of catalytic activity (GO:0043085)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|regulation of necroptotic process (GO:0060544)|regulation of satellite cell proliferation (GO:0014842)|skeletal muscle atrophy (GO:0014732)|skeletal muscle tissue development (GO:0007519)|skeletal muscle tissue regeneration (GO:0043403)|skeletal myofibril assembly (GO:0014866)|viral process (GO:0016032)	CD95 death-inducing signaling complex (GO:0031265)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|death-inducing signaling complex (GO:0031264)|ripoptosome (GO:0097342)	cysteine-type peptidase activity (GO:0008234)|death effector domain binding (GO:0035877)|enzyme activator activity (GO:0008047)|protease binding (GO:0002020)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|stomach(1)	13						AGTTCACCGAGAAGCTGACTT	0.577																																					Pancreas(16;548 657 22190 32864 42338)	uc002uxb.3		NA																	0					0						c.(1192-1194)GAA>AAA		CASP8 and FADD-like apoptosis regulator isoform							49.0	49.0	49.0					2																	202025553		2203	4300	6503	SO:0001583	missense	8837				anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|interspecies interaction between organisms|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis		cysteine-type endopeptidase activity|protein binding	g.chr2:202025553G>A	AF005774	CCDS2337.1, CCDS46487.1, CCDS56157.1, CCDS56158.1, CCDS59436.1	2q33-q34	2014-01-30			ENSG00000003402	ENSG00000003402		"""Endogenous ligands"""	1876	protein-coding gene	gene with protein product		603599		CASP8AP1		9208847, 9217161	Standard	NM_003879		Approved	CASH, Casper, CLARP, FLAME, FLIP, I-FLICE, MRIT, c-FLIP	uc002uxb.4	O15519	OTTHUMG00000132819	ENST00000309955.3:c.1192G>A	2.37:g.202025553G>A	ENSP00000312455:p.Glu398Lys					CFLAR_uc010zhk.1_Missense_Mutation_p.E302K|CFLAR_uc002uxc.3_Missense_Mutation_p.E363K|CFLAR_uc010zhl.1_Missense_Mutation_p.E302K|CFLAR_uc010fsw.1_RNA|CFLAR_uc002uxd.3_Missense_Mutation_p.E398K|CFLAR_uc002uxf.2_Missense_Mutation_p.E398K|CFLAR_uc010fsy.2_RNA|CFLAR_uc010fsx.2_Intron|CFLAR_uc010zhm.1_Missense_Mutation_p.E302K|CFLAR_uc010fsz.2_Missense_Mutation_p.E153K|CFLAR_uc002uxg.2_Missense_Mutation_p.E153K	p.E398K	NM_003879	NP_003870	O15519	CFLAR_HUMAN			9	1644	+			398			Interaction with caspase-8.|Interaction with caspase-3.|Interaction with TRAF1 and TRAF2.|Not proteolytically processed and involved in apoptosis inhibition.|Interaction with caspase-8 subunits p18 and p10.		B4DJE0|B7Z9F9|O14673|O14674|O14675|O15137|O15138|O15356|O15510|O43618|O43619|O43620|O60458|O60459|Q53TS6|Q54AF1|Q96TE4|Q9UEW1	Missense_Mutation	SNP	ENST00000309955.3	37	c.1192G>A	CCDS2337.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.354151	0.82243	.	.	ENSG00000003402	ENST00000309955;ENST00000443227;ENST00000340870;ENST00000343375;ENST00000341582;ENST00000423241;ENST00000457277	T;T;T;T;T;T	0.21932	1.98;1.98;1.98;1.98;1.98;1.98	5.61	5.61	0.85477	Peptidase C14, caspase catalytic (1);Peptidase C14, caspase precursor p45, core (1);	0.425221	0.27851	N	0.017591	T	0.51890	0.1701	M	0.86651	2.83	0.41420	D	0.987795	P;D;P;D	0.61697	0.887;0.99;0.94;0.977	P;P;P;P	0.61800	0.765;0.894;0.757;0.893	T	0.58233	-0.7672	10	0.59425	D	0.04	-16.3382	19.6236	0.95670	0.0:0.0:1.0:0.0	.	302;398;363;398	O15519-3;O15519-11;O15519-8;O15519	.;.;.;CFLAR_HUMAN	K	398;302;398;284;363;398;398	ENSP00000312455:E398K;ENSP00000413270:E302K;ENSP00000339326:E398K;ENSP00000345807:E363K;ENSP00000399420:E398K;ENSP00000411535:E398K	ENSP00000312455:E398K	E	+	1	0	CFLAR	201733798	1.000000	0.71417	0.953000	0.39169	0.148000	0.21650	4.725000	0.61979	2.643000	0.89663	0.555000	0.69702	GAA		0.577	CFLAR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256276.3	NM_003879		15	33	0	0	0	0	15	33				
ALS2	57679	broad.mit.edu	37	2	202625889	202625889	+	Silent	SNP	G	G	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr2:202625889G>A	ENST00000264276.6	-	4	1200	c.828C>T	c.(826-828)ctC>ctT	p.L276L	ALS2_ENST00000467448.1_Silent_p.L276L|ALS2_ENST00000496244.1_5'Flank	NM_020919.3	NP_065970.2	Q96Q42	ALS2_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)	276					behavioral fear response (GO:0001662)|cell death (GO:0008219)|endosomal transport (GO:0016197)|endosome organization (GO:0007032)|locomotory behavior (GO:0007626)|neuromuscular junction development (GO:0007528)|neuron projection morphogenesis (GO:0048812)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Rab GTPase activity (GO:0032851)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rac protein signal transduction (GO:0035022)|positive regulation of Ran GTPase activity (GO:0032853)|protein localization (GO:0008104)|receptor recycling (GO:0001881)|regulation of endosome size (GO:0051036)|response to oxidative stress (GO:0006979)|synaptic transmission, glutamatergic (GO:0035249)|vesicle organization (GO:0016050)	centrosome (GO:0005813)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|early endosome (GO:0005769)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)|ruffle (GO:0001726)|vesicle (GO:0031982)	protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activator activity (GO:0043539)|Rab GTPase binding (GO:0017137)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Ran guanyl-nucleotide exchange factor activity (GO:0005087)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	72						TGGAGGGGCTGAGAGCAGTGC	0.453																																						uc002uyo.2		NA																	0				skin(5)|lung(1)|breast(1)	7						c.(826-828)CTC>CTT		alsin isoform 1							130.0	130.0	130.0					2																	202625889		2068	4208	6276	SO:0001819	synonymous_variant	57679				cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size	centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle	protein homodimerization activity|protein serine/threonine kinase activator activity|Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity	g.chr2:202625889G>A	AB053305	CCDS42800.1, CCDS46492.1	2q33-q35	2014-09-17	2004-06-23		ENSG00000003393	ENSG00000003393		"""Rho guanine nucleotide exchange factors"""	443	protein-coding gene	gene with protein product	"""alsin"""	606352	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 6"""	ALS2CR6		11586298	Standard	NM_020919		Approved		uc002uyo.3	Q96Q42	OTTHUMG00000154507	ENST00000264276.6:c.828C>T	2.37:g.202625889G>A						ALS2_uc002uyp.3_Silent_p.L276L|ALS2_uc002uyq.2_Silent_p.L276L|ALS2_uc002uyr.2_Silent_p.L276L	p.L276L	NM_020919	NP_065970	Q96Q42	ALS2_HUMAN			4	1184	-			276					Q53TT1|Q53TV2|Q8N1E0|Q96PC4|Q96Q41|Q9H973|Q9HCK9	Silent	SNP	ENST00000264276.6	37	c.828C>T	CCDS42800.1																																																																																				0.453	ALS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335562.3	NM_020919		22	46	0	0	0	0	22	46				
CATIP	375307	broad.mit.edu	37	2	219222441	219222441	+	Silent	SNP	C	C	T	rs150544491		TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr2:219222441C>T	ENST00000289388.3	+	3	332	c.303C>T	c.(301-303)tgC>tgT	p.C101C	AC021016.8_ENST00000411433.1_RNA|C2orf62_ENST00000481940.1_3'UTR	NM_198559.1	NP_940961.1	Q7Z7H3	CATIP_HUMAN		101					actin filament polymerization (GO:0030041)|cilium organization (GO:0044782)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(4)|kidney(2)|large_intestine(4)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	16		Renal(207;0.0915)		Epithelial(149;8.08e-07)|all cancers(144;0.000146)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AAATGCTCTGCGGAAATTCCC	0.527																																						uc002vhr.2		NA																	0					0						c.(301-303)TGC>TGT		hypothetical protein LOC375307		C		1,4405	2.1+/-5.4	0,1,2202	69.0	69.0	69.0		303	-9.6	0.0	2	dbSNP_134	69	0,8600		0,0,4300	no	coding-synonymous	C2orf62	NM_198559.1		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		101/388	219222441	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	375307							g.chr2:219222441C>T																												ENST00000289388.3:c.303C>T	2.37:g.219222441C>T						C2orf62_uc002vhs.2_RNA	p.C101C	NM_198559	NP_940961	Q7Z7H3	CB062_HUMAN		Epithelial(149;8.08e-07)|all cancers(144;0.000146)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	3	332	+		Renal(207;0.0915)	101						Silent	SNP	ENST00000289388.3	37	c.303C>T	CCDS2414.1																																																																																				0.527	C2orf62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256771.1			22	69	0	0	0	0	22	69				
CHPF	79586	broad.mit.edu	37	2	220405145	220405145	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr2:220405145G>C	ENST00000243776.6	-	4	1536	c.1288C>G	c.(1288-1290)Cta>Gta	p.L430V	CHPF_ENST00000535926.1_Missense_Mutation_p.L268V	NM_024536.5	NP_078812	Q8IZ52	CHSS2_HUMAN	chondroitin polymerizing factor	430					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047238)|metal ion binding (GO:0046872)|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity (GO:0050510)			central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)	21		Renal(207;0.0183)		Epithelial(149;3.02e-08)|all cancers(144;3.41e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		AGCTCCTCTAGAGCTGTCCCC	0.647																																						uc002vmc.3		NA																	0					0						c.(1288-1290)CTA>GTA		chondroitin polymerizing factor							27.0	30.0	29.0					2																	220405145		2199	4289	6488	SO:0001583	missense	79586					Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity|protein binding	g.chr2:220405145G>C	BC008878	CCDS2443.1, CCDS56169.1	2q35	2014-02-12			ENSG00000123989	ENSG00000123989	2.4.1.175, 2.4.1.226	"""Beta 3-glycosyltransferases"", ""Beta 4-glycosyltransferases"""	24291	protein-coding gene	gene with protein product	"""chondroitin sulfate synthase 2"""	610405				11230166, 12716890	Standard	NM_024536		Approved	CSS2, CHSY2	uc002vmc.4	Q8IZ52	OTTHUMG00000058929	ENST00000243776.6:c.1288C>G	2.37:g.220405145G>C	ENSP00000243776:p.Leu430Val					CHPF_uc010zlh.1_Missense_Mutation_p.L268V	p.L430V	NM_024536	NP_078812	Q8IZ52	CHSS2_HUMAN		Epithelial(149;3.02e-08)|all cancers(144;3.41e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)	4	1515	-		Renal(207;0.0183)	430			Lumenal (Potential).		B4DXU0|Q6UXD6|Q7L4G1|Q9H0F8|Q9H618	Missense_Mutation	SNP	ENST00000243776.6	37	c.1288C>G	CCDS2443.1	.	.	.	.	.	.	.	.	.	.	G	0.021	-1.418826	0.01136	.	.	ENSG00000123989	ENST00000243776;ENST00000535926	T;T	0.17691	2.26;2.26	4.56	1.44	0.22558	.	0.190031	0.35291	N	0.003308	T	0.04048	0.0113	N	0.01705	-0.755	0.36776	D	0.884087	B	0.16603	0.018	B	0.22601	0.04	T	0.27400	-1.0075	10	0.09590	T	0.72	-9.3686	0.5719	0.00697	0.1954:0.2373:0.2831:0.2842	.	430	Q8IZ52	CHSS2_HUMAN	V	430;268	ENSP00000243776:L430V;ENSP00000445571:L268V	ENSP00000243776:L430V	L	-	1	2	CHPF	220113389	0.172000	0.23043	0.960000	0.40013	0.178000	0.23041	0.461000	0.21940	0.170000	0.19704	0.561000	0.74099	CTA		0.647	CHPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130268.1	NM_024536		20	18	0	0	0	0	20	18				
PTMA	5757	broad.mit.edu	37	2	232576621	232576621	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr2:232576621G>T	ENST00000341369.7	+	3	333	c.142G>T	c.(142-144)Gag>Tag	p.E48*	PTMA_ENST00000409683.1_Nonsense_Mutation_p.E47*|PTMA_ENST00000409321.1_Nonsense_Mutation_p.E68*|PTMA_ENST00000409115.3_Nonsense_Mutation_p.E47*|PTMA_ENST00000410064.1_Nonsense_Mutation_p.E73*|PTMA_ENST00000466801.1_3'UTR	NM_001099285.1	NP_001092755.1	P06454	PTMA_HUMAN	prothymosin, alpha	48	Asp/Glu-rich (acidic).				transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)				lung(3)|ovary(1)|prostate(1)|skin(1)	6		Renal(207;0.0112)|all_hematologic(139;0.0315)|Acute lymphoblastic leukemia(138;0.0921)|all_lung(227;0.142)		Epithelial(121;1.75e-12)|BRCA - Breast invasive adenocarcinoma(100;0.00221)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0139)		TGGGGAGCAGGAGGCTGACAA	0.547																																						uc002vsc.3		NA																	0					0						c.(142-144)GAG>TAG		prothymosin, alpha isoform 1							66.0	68.0	68.0					2																	232576621		2012	4181	6193	SO:0001587	stop_gained	5757				transcription, DNA-dependent	nucleus		g.chr2:232576621G>T		CCDS42833.1, CCDS46541.1	2q37.1	2008-07-04	2008-04-03		ENSG00000187514	ENSG00000187514			9623	protein-coding gene	gene with protein product	"""gene sequence 28"""	188390	"""prothymosin, alpha (gene sequence 28)"""	TMSA		1612591	Standard	NM_002823		Approved		uc002vsc.4	P06454	OTTHUMG00000153810	ENST00000341369.7:c.142G>T	2.37:g.232576621G>T	ENSP00000344547:p.Glu48*					PTMA_uc002vsb.3_Nonsense_Mutation_p.E47*|PTMA_uc010zmf.1_RNA|MIR1244_hsa-mir-1244-1|MI0006379_5'Flank	p.E48*	NM_001099285	NP_001092755	P06454	PTMA_HUMAN		Epithelial(121;1.75e-12)|BRCA - Breast invasive adenocarcinoma(100;0.00221)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0139)	3	324	+		Renal(207;0.0112)|all_hematologic(139;0.0315)|Acute lymphoblastic leukemia(138;0.0921)|all_lung(227;0.142)	48			Asp/Glu-rich (acidic).		Q15249|Q15592	Nonsense_Mutation	SNP	ENST00000341369.7	37	c.142G>T	CCDS42833.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	38|38	6.878667|6.878667	0.97904|0.97904	.|.	.|.	ENSG00000187514|ENSG00000187514	ENST00000409321;ENST00000409115;ENST00000341369;ENST00000409683;ENST00000410064;ENST00000358839|ENST00000412128	.|.	.|.	.|.	3.58|3.58	3.58|3.58	0.41010|0.41010	.|.	0.104774|.	0.36519|.	U|.	0.002552|.	.|T	.|0.64929	.|0.2643	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.71567	.|-0.4554	.|3	0.72032|.	D|.	0.01|.	.|.	15.0043|15.0043	0.71498|0.71498	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|S	68;47;48;47;73;72|84	.|.	ENSP00000344547:E48X|.	E|R	+|+	1|3	0|2	PTMA|PTMA	232284865|232284865	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.949000|0.949000	0.60115|0.60115	5.756000|5.756000	0.68757|0.68757	2.299000|2.299000	0.77371|0.77371	0.549000|0.549000	0.68633|0.68633	GAG|AGG		0.547	PTMA-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000332553.1			6	9	1	0	3.6e-05	3.71e-05	6	9				
NSFL1C	55968	broad.mit.edu	37	20	1426360	1426360	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr20:1426360G>A	ENST00000216879.4	-	8	1768	c.901C>T	c.(901-903)Cgg>Tgg	p.R301W	NSFL1C_ENST00000353088.2_Missense_Mutation_p.R270W|NSFL1C_ENST00000350991.4_Missense_Mutation_p.R303W|NSFL1C_ENST00000381658.4_Missense_Mutation_p.R190W|NSFL1C_ENST00000476071.1_Missense_Mutation_p.R303W|NSFL1C_ENST00000461211.1_5'UTR	NM_016143.4	NP_057227.2	Q9UNZ2	NSF1C_HUMAN	NSFL1 (p97) cofactor (p47)	301	UBX. {ECO:0000255|PROSITE- ProRule:PRU00215}.					chromosome (GO:0005694)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)	p.R301W(1)		breast(1)|large_intestine(5)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	16						TCTGCAAGCCGAATTTGGATG	0.517																																						uc002wfc.2		NA																	1	Substitution - Missense(1)		large_intestine(1)		0						c.(901-903)CGG>TGG		p47 protein isoform a							184.0	180.0	181.0					20																	1426360		2203	4300	6503	SO:0001583	missense	55968					chromosome|Golgi stack|nucleus	lipid binding|protein binding	g.chr20:1426360G>A	AF112211	CCDS13015.1, CCDS13016.1, CCDS56175.1	20p13	2011-06-28			ENSG00000088833	ENSG00000088833		"""UBX domain containing"""	15912	protein-coding gene	gene with protein product	"""SHP1 homolog (S. cerevisiae)"", ""UBX domain protein 2C"""	606610				11042152	Standard	NM_016143		Approved	dJ776F14.1, p47, UBXD10, UBX1, UBXN2C	uc002wfc.3	Q9UNZ2	OTTHUMG00000031665	ENST00000216879.4:c.901C>T	20.37:g.1426360G>A	ENSP00000216879:p.Arg301Trp					NSFL1C_uc002wfd.2_Missense_Mutation_p.R190W|NSFL1C_uc002wfe.2_Missense_Mutation_p.R270W|NSFL1C_uc002wff.2_RNA|NSFL1C_uc010gag.2_Missense_Mutation_p.R67W	p.R301W	NM_016143	NP_057227	Q9UNZ2	NSF1C_HUMAN			8	1849	-			301			UBX.		A2A2L1|B2RD74|Q5JXA4|Q5JXA5|Q7Z533|Q9H102|Q9NVL9|Q9UI06	Missense_Mutation	SNP	ENST00000216879.4	37	c.901C>T	CCDS13015.1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.002492	0.74932	.	.	ENSG00000088833	ENST00000353088;ENST00000476071;ENST00000216879;ENST00000381658;ENST00000350991	T;T;T;T;T	0.64085	-0.08;-0.08;-0.08;-0.08;-0.08	4.53	2.38	0.29361	UBX (3);	0.000000	0.85682	D	0.000000	T	0.76104	0.3941	M	0.69823	2.125	0.80722	D	1	D;D;D	0.89917	1.0;0.987;0.995	D;P;P	0.97110	1.0;0.456;0.73	T	0.80054	-0.1543	10	0.87932	D	0	-6.9407	13.6082	0.62061	0.0:0.0:0.7211:0.2789	.	270;190;301	Q9UNZ2-4;Q9UNZ2-6;Q9UNZ2	.;.;NSF1C_HUMAN	W	270;303;301;190;303	ENSP00000338643:R270W;ENSP00000418529:R303W;ENSP00000216879:R301W;ENSP00000371074:R190W;ENSP00000202584:R303W	ENSP00000216879:R301W	R	-	1	2	NSFL1C	1374360	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	2.803000	0.47924	1.241000	0.43820	0.561000	0.74099	CGG		0.517	NSFL1C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077525.2	NM_016143		26	258	0	0	0	0	26	258				
ZNF343	79175	broad.mit.edu	37	20	2474452	2474452	+	Silent	SNP	C	C	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr20:2474452C>T	ENST00000278772.4	-	3	577	c.90G>A	c.(88-90)aaG>aaA	p.K30K	ZNF343_ENST00000358413.2_Silent_p.K30K|RP4-734P14.4_ENST00000461548.1_Silent_p.K30K|ZNF343_ENST00000381253.1_Silent_p.K30K	NM_001282495.1|NM_001282496.1|NM_024325.4	NP_001269424.1|NP_001269425.1|NP_077301.4	Q6P1L6	ZN343_HUMAN	zinc finger protein 343	30					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|skin(4)|upper_aerodigestive_tract(1)	25						GGGTCAATTTCTTCATAGTCT	0.458																																						uc002wge.1		NA																	0				upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	3						c.(88-90)AAG>AAA		zinc finger protein 343							156.0	149.0	151.0					20																	2474452		2203	4300	6503	SO:0001819	synonymous_variant	79175				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:2474452C>T	AK096911	CCDS13028.1, CCDS74692.1, CCDS74693.1, CCDS74694.1	20p13	2013-01-08			ENSG00000088876	ENSG00000088876		"""Zinc fingers, C2H2-type"", ""-"""	16017	protein-coding gene	gene with protein product							Standard	NM_001282498		Approved	MGC10715	uc002wge.1	Q6P1L6	OTTHUMG00000031701	ENST00000278772.4:c.90G>A	20.37:g.2474452C>T						ZNF343_uc010gao.1_Silent_p.K30K|ZNF343_uc002wgd.1_5'Flank	p.K30K	NM_024325	NP_077301	Q6P1L6	ZN343_HUMAN			3	578	-			30					Q5JXU8|Q5JXU9|Q8N8F2|Q96EX8|Q96NA5|Q9BQB0	Silent	SNP	ENST00000278772.4	37	c.90G>A	CCDS13028.1																																																																																				0.458	ZNF343-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077617.1	NM_024325		35	154	0	0	0	0	35	154				
ZNF343	79175	broad.mit.edu	37	20	2474463	2474463	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr20:2474463C>G	ENST00000278772.4	-	3	566	c.79G>C	c.(79-81)Gag>Cag	p.E27Q	ZNF343_ENST00000358413.2_Missense_Mutation_p.E27Q|RP4-734P14.4_ENST00000461548.1_Missense_Mutation_p.E27Q|ZNF343_ENST00000381253.1_Missense_Mutation_p.E27Q	NM_001282495.1|NM_001282496.1|NM_024325.4	NP_001269424.1|NP_001269425.1|NP_077301.4	Q6P1L6	ZN343_HUMAN	zinc finger protein 343	27					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.E27K(1)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|skin(4)|upper_aerodigestive_tract(1)	25						TTCATAGTCTCTACATTTTCC	0.473																																						uc002wge.1		NA																	1	Substitution - Missense(1)	p.E27K(1)	upper_aerodigestive_tract(1)	upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	3						c.(79-81)GAG>CAG		zinc finger protein 343							158.0	153.0	155.0					20																	2474463		2203	4300	6503	SO:0001583	missense	79175				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:2474463C>G	AK096911	CCDS13028.1, CCDS74692.1, CCDS74693.1, CCDS74694.1	20p13	2013-01-08			ENSG00000088876	ENSG00000088876		"""Zinc fingers, C2H2-type"", ""-"""	16017	protein-coding gene	gene with protein product							Standard	NM_001282498		Approved	MGC10715	uc002wge.1	Q6P1L6	OTTHUMG00000031701	ENST00000278772.4:c.79G>C	20.37:g.2474463C>G	ENSP00000278772:p.Glu27Gln					ZNF343_uc010gao.1_Missense_Mutation_p.E27Q|ZNF343_uc002wgd.1_5'Flank	p.E27Q	NM_024325	NP_077301	Q6P1L6	ZN343_HUMAN			3	567	-			27					Q5JXU8|Q5JXU9|Q8N8F2|Q96EX8|Q96NA5|Q9BQB0	Missense_Mutation	SNP	ENST00000278772.4	37	c.79G>C	CCDS13028.1	.	.	.	.	.	.	.	.	.	.	c	13.67	2.305692	0.40795	.	.	ENSG00000088876	ENST00000278772;ENST00000445484;ENST00000381253;ENST00000358413;ENST00000421216	T;T;T;T;T	0.08458	3.09;4.64;4.67;4.67;4.38	2.67	1.69	0.24217	.	.	.	.	.	T	0.04003	0.0112	N	0.08118	0	0.09310	N	1	B	0.18461	0.028	B	0.21917	0.037	T	0.47649	-0.9101	9	0.14252	T	0.57	.	7.4432	0.27196	0.0:0.7298:0.2702:0.0	.	27	Q6P1L6	ZN343_HUMAN	Q	27	ENSP00000278772:E27Q;ENSP00000399682:E27Q;ENSP00000370652:E27Q;ENSP00000351188:E27Q;ENSP00000416488:E27Q	ENSP00000443337:E27Q	E	-	1	0	ZNF343	2422463	0.000000	0.05858	0.002000	0.10522	0.049000	0.14656	-0.069000	0.11542	0.666000	0.31087	0.645000	0.84053	GAG		0.473	ZNF343-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077617.1	NM_024325		36	161	0	0	0	0	36	161				
ATRN	8455	broad.mit.edu	37	20	3529964	3529964	+	Nonsense_Mutation	SNP	C	C	G			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr20:3529964C>G	ENST00000262919.5	+	6	1159	c.1091C>G	c.(1090-1092)tCa>tGa	p.S364*	ATRN_ENST00000446916.2_Nonsense_Mutation_p.S364*	NM_139321.2	NP_647537.1	O75882	ATRN_HUMAN	attractin	364					cerebellum development (GO:0021549)|inflammatory response (GO:0006954)|myelination (GO:0042552)|pigmentation (GO:0043473)|regulation of multicellular organism growth (GO:0040014)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			breast(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	59						TTCAACCACTCAGATTATAAC	0.333																																						uc002wim.2		NA																	0				ovary(1)|breast(1)	2						c.(1090-1092)TCA>TGA		attractin isoform 1							131.0	121.0	124.0					20																	3529964		2203	4300	6503	SO:0001587	stop_gained	8455				inflammatory response	extracellular space|integral to plasma membrane	receptor activity|sugar binding	g.chr20:3529964C>G	AF034957	CCDS13053.1, CCDS13054.1	20p13	2008-07-02			ENSG00000088812	ENSG00000088812			885	protein-coding gene	gene with protein product	"""mahogany protein"""	603130				9736737, 8596018	Standard	NM_139321		Approved	DPPT-L, MGCA	uc002wim.2	O75882	OTTHUMG00000031746	ENST00000262919.5:c.1091C>G	20.37:g.3529964C>G	ENSP00000262919:p.Ser364*					ATRN_uc002wil.2_Nonsense_Mutation_p.S364*	p.S364*	NM_139321	NP_647537	O75882	ATRN_HUMAN			6	1181	+			364			Extracellular (Potential).|Kelch 1.		A8KAE5|O60295|O95414|Q3MIT3|Q5TDA2|Q5TDA4|Q5VYW3|Q9NTQ3|Q9NTQ4|Q9NU01|Q9NZ57|Q9NZ58|Q9UC75|Q9UDF5	Nonsense_Mutation	SNP	ENST00000262919.5	37	c.1091C>G	CCDS13053.1	.	.	.	.	.	.	.	.	.	.	C	36	5.936728	0.97122	.	.	ENSG00000088812	ENST00000262919;ENST00000446916;ENST00000340500	.	.	.	5.39	5.39	0.77823	.	0.199069	0.44902	D	0.000408	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	-7.1092	18.929	0.92556	0.0:1.0:0.0:0.0	.	.	.	.	X	364;364;290	.	ENSP00000262919:S364X	S	+	2	0	ATRN	3477964	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.092000	0.50207	2.809000	0.96659	0.655000	0.94253	TCA		0.333	ATRN-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077740.2	NM_139321		21	99	0	0	0	0	21	99				
BPIFB3	359710	broad.mit.edu	37	20	31647253	31647253	+	Silent	SNP	G	G	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr20:31647253G>A	ENST00000375494.3	+	3	351	c.351G>A	c.(349-351)ctG>ctA	p.L117L	AL121756.1_ENST00000579962.1_RNA	NM_182658.1	NP_872599.1	P59826	BPIB3_HUMAN	BPI fold containing family B, member 3	117	Leu-rich.				innate immune response (GO:0045087)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	lipid binding (GO:0008289)										GGGTGCAGCTGAGCCTGCACA	0.582																																						uc002wym.1		NA																	0				ovary(4)	4						c.(349-351)CTG>CTA		antimicrobial peptide RYA3 precursor							71.0	61.0	65.0					20																	31647253		2203	4300	6503	SO:0001819	synonymous_variant	359710				innate immune response	cytoplasm|extracellular region	lipid binding|protein binding	g.chr20:31647253G>A	AF549189	CCDS13212.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000186190	ENSG00000186190		"""BPI fold containing"""	16178	protein-coding gene	gene with protein product		615717	"""chromosome 20 open reading frame 185"""	C20orf185		11971875, 21787333	Standard	NM_182658		Approved	dJ726C3.4, LPLUNC3, RYA3	uc002wym.1	P59826	OTTHUMG00000032234	ENST00000375494.3:c.351G>A	20.37:g.31647253G>A							p.L117L	NM_182658	NP_872599	P59826	LPLC3_HUMAN			3	351	+			117			Leu-rich.		Q5TDX7	Silent	SNP	ENST00000375494.3	37	c.351G>A	CCDS13212.1																																																																																				0.582	BPIFB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078654.2	NM_182658		13	24	0	0	0	0	13	24				
TGM2	7052	broad.mit.edu	37	20	36789876	36789876	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr20:36789876C>T	ENST00000361475.2	-	2	309	c.136G>A	c.(136-138)Gag>Aag	p.E46K	TGM2_ENST00000536701.1_Missense_Mutation_p.E46K|TGM2_ENST00000536724.1_Intron	NM_004613.2|NM_198951.1	NP_004604.2|NP_945189.1	P21980	TGM2_HUMAN	transglutaminase 2	46					apoptotic cell clearance (GO:0043277)|blood vessel remodeling (GO:0001974)|branching involved in salivary gland morphogenesis (GO:0060445)|isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine (GO:0018153)|negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)|positive regulation of smooth muscle cell proliferation (GO:0048661)|protein homooligomerization (GO:0051260)|salivary gland cavitation (GO:0060662)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			endometrium(2)|large_intestine(11)|liver(1)|lung(7)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Myeloproliferative disorder(115;0.00878)			L-Glutamine(DB00130)	TTGCGGCCCTCAAAGTGCAGG	0.642																																						uc002xhr.2		NA																	0				large_intestine(1)|lung(1)|ovary(1)	3						c.(136-138)GAG>AAG		transglutaminase 2 isoform a	L-Glutamine(DB00130)						72.0	57.0	62.0					20																	36789876		2203	4300	6503	SO:0001583	missense	7052				apoptotic cell clearance|peptide cross-linking|positive regulation of cell adhesion		acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity	g.chr20:36789876C>T	M98478	CCDS13302.1	20q12	2013-05-02	2013-05-02		ENSG00000198959	ENSG00000198959	2.3.2.13	"""Transglutaminases"""	11778	protein-coding gene	gene with protein product	"""C polypeptide, protein-glutamine-gamma-glutamyltransferase"""	190196	"""transglutaminase 2 (C polypeptide, protein-glutamine-gamma-glutamyltransferase)"""			7912692, 11390390	Standard	NM_004613		Approved	TGC	uc002xhr.3	P21980	OTTHUMG00000032437	ENST00000361475.2:c.136G>A	20.37:g.36789876C>T	ENSP00000355330:p.Glu46Lys					TGM2_uc010zvx.1_Missense_Mutation_p.E46K|TGM2_uc010zvy.1_Intron|TGM2_uc002xhs.1_Missense_Mutation_p.E46K|TGM2_uc002xht.2_Missense_Mutation_p.E46K|TGM2_uc002xhu.3_Missense_Mutation_p.E46K	p.E46K	NM_004613	NP_004604	P21980	TGM2_HUMAN			2	236	-		Myeloproliferative disorder(115;0.00878)	46					E1P5V9|Q16436|Q6B838|Q9BTN7|Q9UH35	Missense_Mutation	SNP	ENST00000361475.2	37	c.136G>A	CCDS13302.1	.	.	.	.	.	.	.	.	.	.	C	0.618	-0.822422	0.02755	.	.	ENSG00000198959	ENST00000361475;ENST00000536701;ENST00000373403;ENST00000453095	D;D;D;D	0.84370	-1.84;-1.84;-1.84;-1.84	3.52	0.426	0.16479	Immunoglobulin E-set (1);Transglutaminase, N-terminal (1);Immunoglobulin-like fold (1);	1.237150	0.05360	N	0.533382	T	0.74726	0.3754	L	0.37630	1.12	0.20764	N	0.999859	B;B;B;B	0.24317	0.101;0.01;0.0;0.0	B;B;B;B	0.28916	0.096;0.006;0.001;0.002	T	0.55379	-0.8150	10	0.09843	T	0.71	-9.7552	1.705	0.02880	0.2499:0.4407:0.1319:0.1775	.	46;46;46;46	B4DIT7;P21980-3;P21980-2;P21980	.;.;.;TGM2_HUMAN	K	46	ENSP00000355330:E46K;ENSP00000444701:E46K;ENSP00000362502:E46K;ENSP00000387642:E46K	ENSP00000355330:E46K	E	-	1	0	TGM2	36223290	0.031000	0.19500	0.785000	0.31869	0.316000	0.28119	-0.799000	0.04560	0.123000	0.18342	-0.258000	0.10820	GAG		0.642	TGM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079151.2	NM_198951		9	72	0	0	0	0	9	72				
ADA	100	broad.mit.edu	37	20	43251500	43251500	+	Silent	SNP	G	G	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr20:43251500G>A	ENST00000372874.4	-	8	884	c.750C>T	c.(748-750)aaC>aaT	p.N250N	ADA_ENST00000464097.1_5'UTR|PKIG_ENST00000372882.3_Intron|ADA_ENST00000537820.1_Silent_p.N226N|PKIG_ENST00000372887.1_Intron	NM_000022.2	NP_000013.2	P00813	ADA_HUMAN	adenosine deaminase	250					adenosine catabolic process (GO:0006154)|aging (GO:0007568)|cell adhesion (GO:0007155)|dATP catabolic process (GO:0046061)|deoxyadenosine catabolic process (GO:0006157)|embryonic digestive tract development (GO:0048566)|germinal center B cell differentiation (GO:0002314)|histamine secretion (GO:0001821)|hypoxanthine salvage (GO:0043103)|inosine biosynthetic process (GO:0046103)|liver development (GO:0001889)|lung alveolus development (GO:0048286)|negative regulation of adenosine receptor signaling pathway (GO:0060169)|negative regulation of circadian sleep/wake cycle, non-REM sleep (GO:0042323)|negative regulation of inflammatory response (GO:0050728)|negative regulation of leukocyte migration (GO:0002686)|negative regulation of mature B cell apoptotic process (GO:0002906)|negative regulation of mucus secretion (GO:0070256)|negative regulation of penile erection (GO:0060407)|negative regulation of thymocyte apoptotic process (GO:0070244)|nucleobase-containing small molecule metabolic process (GO:0055086)|Peyer's patch development (GO:0048541)|placenta development (GO:0001890)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of germinal center formation (GO:0002636)|positive regulation of heart rate (GO:0010460)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of T cell differentiation in thymus (GO:0033089)|positive regulation of T cell receptor signaling pathway (GO:0050862)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide salvage (GO:0032261)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|purine-containing compound salvage (GO:0043101)|regulation of cell-cell adhesion mediated by integrin (GO:0033632)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to hypoxia (GO:0001666)|response to morphine (GO:0043278)|response to vitamin E (GO:0033197)|small molecule metabolic process (GO:0044281)|T cell activation (GO:0042110)|trophectodermal cell differentiation (GO:0001829)|xanthine biosynthetic process (GO:0046111)	cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite cytoplasm (GO:0032839)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|lysosome (GO:0005764)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	adenosine deaminase activity (GO:0004000)|purine nucleoside binding (GO:0001883)|zinc ion binding (GO:0008270)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|pancreas(2)|prostate(3)|skin(2)|urinary_tract(1)	18		all_lung(126;1.24e-07)|Lung NSC(126;1.94e-07)|Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)		Adenosine(DB00640)|Dipyridamole(DB00975)|Edetic Acid(DB00974)|Nelarabine(DB01280)|Pentostatin(DB00552)|Theophylline(DB00277)|Vidarabine(DB00194)	GCCGCAGCCTGTTATAAAGGG	0.557									Adenosine Deaminase Deficiency																													uc002xmj.2		NA																	0				pancreas(2)|ovary(1)	3						c.(748-750)AAC>AAT		adenosine deaminase	Adenosine(DB00640)|Cladribine(DB00242)|Dipyridamole(DB00975)|Erythromycin(DB00199)|Fludarabine(DB01073)|Idoxuridine(DB00249)|Nelarabine(DB01280)|Pentostatin(DB00552)|Theophylline(DB00277)|Vidarabine(DB00194)						122.0	128.0	126.0					20																	43251500		2203	4300	6503	SO:0001819	synonymous_variant	100	Adenosine_Deaminase_Deficiency	Familial Cancer Database	Severe Combined Immunodeficiency (SCID) due to ADA-deficiency	adenosine catabolic process|cell adhesion|hypoxanthine salvage|inosine biosynthetic process|negative regulation of adenosine receptor signaling pathway|purine nucleotide salvage|purine ribonucleoside monophosphate biosynthetic process|regulation of cell-cell adhesion mediated by integrin|response to hypoxia|T cell activation	cell junction|cytoplasmic membrane-bounded vesicle lumen|cytosol|external side of plasma membrane|lysosome	adenosine deaminase activity|protein binding|zinc ion binding	g.chr20:43251500G>A	X02994	CCDS13335.1	20q13.12	2014-09-17			ENSG00000196839	ENSG00000196839	3.5.4.4		186	protein-coding gene	gene with protein product		608958				6198240, 6090454	Standard	NM_000022		Approved		uc002xmj.3	P00813	OTTHUMG00000033081	ENST00000372874.4:c.750C>T	20.37:g.43251500G>A						ADA_uc010ggt.2_RNA	p.N250N	NM_000022	NP_000013	P00813	ADA_HUMAN	COAD - Colon adenocarcinoma(18;0.00189)		8	878	-		all_lung(126;1.24e-07)|Lung NSC(126;1.94e-07)|Myeloproliferative disorder(115;0.0122)	250					Q53F92|Q6LA59	Silent	SNP	ENST00000372874.4	37	c.750C>T	CCDS13335.1																																																																																				0.557	ADA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080509.2	NM_000022		27	133	0	0	0	0	27	133				
NEURL2	140825	broad.mit.edu	37	20	44517447	44517447	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr20:44517447C>A	ENST00000372518.4	-	2	1103	c.808G>T	c.(808-810)Gat>Tat	p.D270Y	SPATA25_ENST00000372519.3_5'Flank|CTSA_ENST00000354880.5_5'Flank|CTSA_ENST00000191018.5_5'Flank|CTSA_ENST00000372459.2_5'Flank|CTSA_ENST00000372484.3_5'Flank	NM_001278535.1|NM_080749.2	NP_001265464.1|NP_542787.1	Q9BR09	NEUL2_HUMAN	neuralized E3 ubiquitin protein ligase 2	270	SOCS box. {ECO:0000255|PROSITE- ProRule:PRU00194}.				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)				TGGAGCCCATCAATGGCCAGC	0.542																																						uc002xqg.1		NA																	0					0						c.(808-810)GAT>TAT		neuralized-like protein 2							95.0	81.0	86.0					20																	44517447		2203	4300	6503	SO:0001583	missense	140825				intracellular signal transduction			g.chr20:44517447C>A	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.808G>T	20.37:g.44517447C>A	ENSP00000361596:p.Asp270Tyr					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.D270Y	NM_080749	NP_542787	Q9BR09	NEUL2_HUMAN			2	1079	-		Myeloproliferative disorder(115;0.0122)	270			SOCS box.		Q3KR34	Missense_Mutation	SNP	ENST00000372518.4	37	c.808G>T	CCDS13384.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.617475	0.87359	.	.	ENSG00000124257	ENST00000372518	T	0.48201	0.82	4.94	4.94	0.65067	SOCS protein, C-terminal (3);	0.000000	0.85682	D	0.000000	T	0.68412	0.2998	M	0.67625	2.065	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.70608	-0.4825	10	0.66056	D	0.02	-17.2053	18.7331	0.91742	0.0:1.0:0.0:0.0	.	270	Q9BR09	NEUL2_HUMAN	Y	270	ENSP00000361596:D270Y	ENSP00000361596:D270Y	D	-	1	0	NEURL2	43950854	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.967000	0.76079	2.724000	0.93272	0.561000	0.74099	GAT		0.542	NEURL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079539.2			5	73	1	0	0.000602214	0.000617179	5	73				
RBM38	55544	broad.mit.edu	37	20	55982766	55982766	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr20:55982766C>T	ENST00000356208.5	+	4	759	c.584C>T	c.(583-585)tCg>tTg	p.S195L	RBM38_ENST00000371219.2_Missense_Mutation_p.S114L|RBM38_ENST00000440234.2_3'UTR	NM_017495.5	NP_059965.2	Q9H0Z9	RBM38_HUMAN	RNA binding motif protein 38	195					3'-UTR-mediated mRNA stabilization (GO:0070935)|cell cycle (GO:0007049)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|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)|mRNA processing (GO:0006397)|negative regulation of cell proliferation (GO:0008285)|regulation of myotube differentiation (GO:0010830)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	mRNA 3'-UTR binding (GO:0003730)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			large_intestine(3)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9	Lung NSC(12;0.00242)|all_lung(29;0.00767)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;1.55e-12)|Epithelial(14;9.49e-09)|all cancers(14;5.01e-08)			TACGCCGCCTCGCCTGCCACG	0.692																																						uc010zzj.1		NA																	0					0						c.(583-585)TCG>TTG		RNA-binding region containing protein 1 isoform							16.0	21.0	19.0					20																	55982766		2053	4175	6228	SO:0001583	missense	55544				3'-UTR-mediated mRNA stabilization|cell cycle|cell cycle arrest|cell differentiation|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 transcription of p21 class mediator|mRNA processing|negative regulation of cell proliferation|regulation of RNA splicing|RNA splicing	cytosol|cytosol|nucleus|nucleus	mRNA 3'-UTR binding|mRNA binding|nucleotide binding|RNA binding	g.chr20:55982766C>T	X75314	CCDS46617.1, CCDS46618.1	20q13.31	2013-02-12	2006-07-11	2006-07-11	ENSG00000132819	ENSG00000132819		"""RNA binding motif (RRM) containing"""	15818	protein-coding gene	gene with protein product		612428	"""RNA-binding region (RNP1, RRM) containing 1"""	RNPC1			Standard	NM_017495		Approved	HSRNASEB, SEB4D, seb4B, dJ800J21.2	uc010zzj.2	Q9H0Z9	OTTHUMG00000032820	ENST00000356208.5:c.584C>T	20.37:g.55982766C>T	ENSP00000348538:p.Ser195Leu					RBM38_uc010zzk.1_3'UTR	p.S195L	NM_017495	NP_059965	Q9H0Z9	RBM38_HUMAN	BRCA - Breast invasive adenocarcinoma(4;1.55e-12)|Epithelial(14;9.49e-09)|all cancers(14;5.01e-08)		4	759	+	Lung NSC(12;0.00242)|all_lung(29;0.00767)|Melanoma(10;0.242)		195					A6NDK1|A6NMU6|Q15350|Q15351|Q9BYK3|Q9BYK4	Missense_Mutation	SNP	ENST00000356208.5	37	c.584C>T	CCDS46617.1	.	.	.	.	.	.	.	.	.	.	C	16.95	3.262750	0.59431	.	.	ENSG00000132819	ENST00000356208;ENST00000371219	T;T	0.31247	1.5;1.5	4.29	4.29	0.51040	.	0.000000	0.85682	D	0.000000	T	0.52996	0.1769	M	0.64997	1.995	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	T	0.56153	-0.8026	10	0.51188	T	0.08	1.0908	17.0821	0.86601	0.0:1.0:0.0:0.0	.	195	Q9H0Z9	RBM38_HUMAN	L	195;114	ENSP00000348538:S195L;ENSP00000360263:S114L	ENSP00000348538:S195L	S	+	2	0	RBM38	55416172	0.999000	0.42202	0.868000	0.34077	0.050000	0.14768	6.610000	0.74178	2.099000	0.63709	0.462000	0.41574	TCG		0.692	RBM38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079843.4	NM_183425		8	20	0	0	0	0	8	20				
YTHDF1	54915	broad.mit.edu	37	20	61846954	61846954	+	Splice_Site	SNP	C	C	G			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr20:61846954C>G	ENST00000370339.3	-	2	369		c.e2-1		YTHDF1_ENST00000370334.4_Splice_Site	NM_017798.3	NP_060268.2	Q9BYJ9	YTHD1_HUMAN	YTH domain family, member 1								N6-methyladenosine-containing RNA binding (GO:1990247)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)	24						CTTTTGTTCTCTGCACCGCCG	0.622																																						uc002yeh.2		NA																	0				ovary(2)	2						c.e2-1		YTH domain family, member 1							30.0	41.0	37.0					20																	61846954		2203	4300	6503	SO:0001630	splice_region_variant	54915							g.chr20:61846954C>G	AK000398	CCDS13511.1	20q13.33	2010-03-15	2004-11-16	2004-06-04	ENSG00000149658	ENSG00000149658			15867	protein-coding gene	gene with protein product			"""YTH domain family 1"""	C20orf21			Standard	NM_017798		Approved	FLJ20391	uc002yeh.3	Q9BYJ9	OTTHUMG00000032955	ENST00000370339.3:c.28-1G>C	20.37:g.61846954C>G							p.R10_splice	NM_017798	NP_060268	Q9BYJ9	YTHD1_HUMAN			2	322	-								Q8N3G5|Q8TBT1|Q96AN4|Q96S57|Q9BTI7|Q9NX79	Splice_Site	SNP	ENST00000370339.3	37	c.28_splice	CCDS13511.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.257970	0.80246	.	.	ENSG00000149658	ENST00000370339;ENST00000370334	.	.	.	4.07	4.07	0.47477	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.8452	0.78883	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	YTHDF1	61317399	1.000000	0.71417	0.996000	0.52242	0.924000	0.55760	6.153000	0.71819	1.797000	0.52628	0.462000	0.41574	.		0.622	YTHDF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080110.2	NM_017798	Intron	17	29	0	0	0	0	17	29				
KCNQ2	3785	broad.mit.edu	37	20	62038284	62038284	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr20:62038284C>A	ENST00000359125.2	-	17	2506	c.2332G>T	c.(2332-2334)Gag>Tag	p.E778*	KCNQ2_ENST00000360480.3_Nonsense_Mutation_p.E750*|KCNQ2_ENST00000359689.1_Nonsense_Mutation_p.E778*|KCNQ2_ENST00000370224.1_Nonsense_Mutation_p.E786*|KCNQ2_ENST00000354587.3_Nonsense_Mutation_p.E786*|KCNQ2_ENST00000357249.2_Nonsense_Mutation_p.E760*|KCNQ2_ENST00000344462.4_Nonsense_Mutation_p.E747*	NM_172107.2	NP_742105.1	O43526	KCNQ2_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 2	778					axon guidance (GO:0007411)|nervous system development (GO:0007399)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)|transmission of nerve impulse (GO:0019226)	axon initial segment (GO:0043194)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	ankyrin binding (GO:0030506)|delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|liver(1)|lung(30)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65	all_cancers(38;1.24e-11)		BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		Amitriptyline(DB00321)|Diclofenac(DB00586)|Ezogabine(DB04953)|Meclofenamic acid(DB00939)	AGGTTCCCCTCGGGGGGCCTG	0.701																																						uc002yey.1		NA																	0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(2332-2334)GAG>TAG		potassium voltage-gated channel KQT-like protein	Amitriptyline(DB00321)						21.0	16.0	18.0					20																	62038284		2181	4293	6474	SO:0001587	stop_gained	3785				axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr20:62038284C>A	AF033348	CCDS13518.1, CCDS13519.1, CCDS13520.1, CCDS13521.1, CCDS46629.1	20q13.33	2012-07-05			ENSG00000075043	ENSG00000075043		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6296	protein-coding gene	gene with protein product		602235		EBN, EBN1		9425895, 16382104	Standard	NM_172107		Approved	Kv7.2, ENB1, BFNC, KCNA11, HNSPC	uc002yex.3	O43526	OTTHUMG00000033049	ENST00000359125.2:c.2332G>T	20.37:g.62038284C>A	ENSP00000352035:p.Glu778*					KCNQ2_uc002yez.1_Nonsense_Mutation_p.E747*|KCNQ2_uc002yfa.1_Nonsense_Mutation_p.E760*|KCNQ2_uc002yfb.1_Nonsense_Mutation_p.E750*	p.E778*	NM_172107	NP_742105	O43526	KCNQ2_HUMAN	BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		17	2509	-	all_cancers(38;1.24e-11)		778			Cytoplasmic (Potential).		O43796|O75580|O95845|Q4VXP4|Q4VXR6|Q5VYT8|Q96J59|Q99454	Nonsense_Mutation	SNP	ENST00000359125.2	37	c.2332G>T	CCDS13520.1	.	.	.	.	.	.	.	.	.	.	C	35	5.550980	0.96501	.	.	ENSG00000075043	ENST00000357249;ENST00000359125;ENST00000370226;ENST00000354587;ENST00000359689;ENST00000430658;ENST00000360480;ENST00000344462;ENST00000370224	.	.	.	4.48	4.48	0.54585	.	0.000000	0.56097	D	0.000036	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.10902	T	0.67	-23.4494	17.1306	0.86725	0.0:1.0:0.0:0.0	.	.	.	.	X	760;778;748;786;778;747;750;774;786	.	ENSP00000339611:E774X	E	-	1	0	KCNQ2	61508728	0.544000	0.26441	0.774000	0.31636	0.046000	0.14306	3.105000	0.50314	2.040000	0.60383	0.491000	0.48974	GAG		0.701	KCNQ2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080353.1	NM_172109		4	10	1	0	5.94e-07	6.19e-07	4	10				
HELZ2	85441	broad.mit.edu	37	20	62203596	62203596	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr20:62203596G>C	ENST00000467148.1	-	1	212	c.143C>G	c.(142-144)aCc>aGc	p.T48S	HELZ2_ENST00000479540.1_5'UTR	NM_001037335.2	NP_001032412.2	Q9BYK8	HELZ2_HUMAN	helicase with zinc finger 2, transcriptional coactivator	48					cellular lipid metabolic process (GO:0044255)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)										AGAGTGGCAGGTGACCAAGCA	0.706																																						uc002yfm.2		NA																	0				central_nervous_system(2)	2						c.(142-144)ACC>AGC		PPAR-alpha interacting complex protein 285							25.0	20.0	22.0					20																	62203596		2172	4285	6457	SO:0001583	missense	85441				cellular lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|helicase activity|ribonuclease activity|RNA binding|transcription coactivator activity|zinc ion binding	g.chr20:62203596G>C	AB201715	CCDS13527.1, CCDS33508.1	20q13.33	2012-09-26			ENSG00000130589	ENSG00000130589			30021	protein-coding gene	gene with protein product	"""peroxisomal proliferator activated receptor A interacting complex 285"", ""PPARG-DBD-interacting protein 1"""	611265				11214970, 12189208, 16239304	Standard	NM_001037335		Approved	PDIP1, PRIC285, KIAA1769	uc002yfm.2	Q9BYK8	OTTHUMG00000032969	ENST00000467148.1:c.143C>G	20.37:g.62203596G>C	ENSP00000417401:p.Thr48Ser					PRIC285_uc002yfn.2_Missense_Mutation_p.T48S	p.T48S	NM_001037335	NP_001032412	Q9BYK8	PR285_HUMAN	Epithelial(9;1.27e-08)|all cancers(9;7.32e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)		2	1035	-	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		48			C2H2-type; atypical.		Q3C2G2|Q4VXQ1|Q8TEF3|Q96ND3|Q9C094	Missense_Mutation	SNP	ENST00000467148.1	37	c.143C>G	CCDS33508.1	.	.	.	.	.	.	.	.	.	.	G	14.00	2.405027	0.42613	.	.	ENSG00000130589	ENST00000467148	T	0.02258	4.37	4.12	4.12	0.48240	Zinc finger, C2H2-like (1);	0.810801	0.11350	N	0.573055	T	0.05044	0.0135	L	0.49126	1.545	0.22112	N	0.999358	P;B	0.37731	0.607;0.141	B;B	0.43413	0.419;0.103	T	0.31586	-0.9938	10	0.66056	D	0.02	-14.8166	12.3138	0.54944	0.0:0.1708:0.8292:0.0	.	48;48	Q4VXQ0;Q9BYK8	.;PR285_HUMAN	S	48	ENSP00000417401:T48S	ENSP00000417401:T48S	T	-	2	0	RP4-697K14.7	61674040	1.000000	0.71417	0.996000	0.52242	0.802000	0.45316	1.617000	0.36943	1.863000	0.54032	0.655000	0.94253	ACC		0.706	HELZ2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354127.1	NM_001037335		9	7	0	0	0	0	9	7				
CXADR	1525	broad.mit.edu	37	21	18931416	18931416	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr21:18931416G>A	ENST00000284878.7	+	4	1286	c.538G>A	c.(538-540)Gac>Aac	p.D180N	CXADR_ENST00000306618.10_Missense_Mutation_p.D180N|CXADR_ENST00000356275.6_Intron|CXADR_ENST00000400166.1_Missense_Mutation_p.D180N|CXADR_ENST00000400165.1_Intron|CXADR_ENST00000400169.1_Missense_Mutation_p.D180N	NM_001338.4	NP_001329.1	P78310	CXAR_HUMAN	coxsackie virus and adenovirus receptor	180	Ig-like C2-type 2.				actin cytoskeleton reorganization (GO:0031532)|AV node cell to bundle of His cell communication (GO:0086067)|blood coagulation (GO:0007596)|cardiac muscle fiber development (GO:0048739)|cell-cell junction organization (GO:0045216)|defense response to virus (GO:0051607)|epithelial structure maintenance (GO:0010669)|gamma-delta T cell activation (GO:0046629)|germ cell migration (GO:0008354)|heart development (GO:0007507)|heterophilic cell-cell adhesion (GO:0007157)|homotypic cell-cell adhesion (GO:0034109)|leukocyte migration (GO:0050900)|mitochondrion organization (GO:0007005)|neutrophil chemotaxis (GO:0030593)|regulation of immune response (GO:0050776)|transepithelial transport (GO:0070633)|viral process (GO:0016032)	acrosomal vesicle (GO:0001669)|adherens junction (GO:0005912)|apicolateral plasma membrane (GO:0016327)|basolateral plasma membrane (GO:0016323)|cell body (GO:0044297)|cell junction (GO:0030054)|cell-cell junction (GO:0005911)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|filopodium (GO:0030175)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|membrane raft (GO:0045121)|neuromuscular junction (GO:0031594)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|cell adhesion molecule binding (GO:0050839)|connexin binding (GO:0071253)|identical protein binding (GO:0042802)|integrin binding (GO:0005178)|PDZ domain binding (GO:0030165)|receptor binding (GO:0005102)|virus receptor activity (GO:0001618)			endometrium(2)|large_intestine(5)|lung(1)|ovary(1)|prostate(2)	11				Epithelial(23;0.000206)|all cancers(11;0.000302)|OV - Ovarian serous cystadenocarcinoma(11;0.0194)|Lung(58;0.0233)|COAD - Colon adenocarcinoma(22;0.0389)|Colorectal(24;0.0483)|LUSC - Lung squamous cell carcinoma(23;0.0782)		AAAATTGTCTGACTCACAGAA	0.383																																						uc002yki.2		NA																	0				ovary(1)	1						c.(538-540)GAC>AAC		coxsackie virus and adenovirus receptor							79.0	71.0	74.0					21																	18931416		2203	4300	6503	SO:0001583	missense	1525				blood coagulation|cell adhesion|interspecies interaction between organisms|leukocyte migration|regulation of immune response	adherens junction|basolateral plasma membrane|extracellular region|integral to plasma membrane|nucleus|tight junction	receptor activity	g.chr21:18931416G>A	Y07593	CCDS33519.1, CCDS56204.1, CCDS56205.1, CCDS56206.1, CCDS56207.1	21q21.1	2013-01-29			ENSG00000154639	ENSG00000154639		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	2559	protein-coding gene	gene with protein product		602621				9036860, 9096397	Standard	NM_001338		Approved	CAR	uc002yki.3	P78310	OTTHUMG00000074508	ENST00000284878.7:c.538G>A	21.37:g.18931416G>A	ENSP00000284878:p.Asp180Asn					CXADR_uc002ykh.1_Missense_Mutation_p.D180N|CXADR_uc010gld.1_Intron|CXADR_uc010gle.1_Intron|CXADR_uc002ykj.1_Missense_Mutation_p.D153N	p.D180N	NM_001338	NP_001329	P78310	CXAR_HUMAN		Epithelial(23;0.000206)|all cancers(11;0.000302)|OV - Ovarian serous cystadenocarcinoma(11;0.0194)|Lung(58;0.0233)|COAD - Colon adenocarcinoma(22;0.0389)|Colorectal(24;0.0483)|LUSC - Lung squamous cell carcinoma(23;0.0782)	4	656	+			180			Extracellular (Potential).|Ig-like C2-type 2.		B2R8V8|B7WPI3|D3YHP0|O00694|Q8WWT6|Q8WWT7|Q8WWT8|Q9UKV4	Missense_Mutation	SNP	ENST00000284878.7	37	c.538G>A	CCDS33519.1	.	.	.	.	.	.	.	.	.	.	G	7.688	0.690394	0.15039	.	.	ENSG00000154639	ENST00000284878;ENST00000400166;ENST00000400169;ENST00000306618	D;D;D;D	0.94497	-3.44;-2.51;-3.44;-2.14	5.07	-1.14	0.09741	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.670270	0.16604	N	0.207201	D	0.83403	0.5247	N	0.04355	-0.22	0.19775	N	0.999959	B;B;B	0.15141	0.001;0.0;0.012	B;B;B	0.11329	0.004;0.002;0.006	T	0.70353	-0.4895	10	0.17369	T	0.5	.	11.5108	0.50492	0.1309:0.1371:0.7321:0.0	.	180;180;180	B7WPI3;P78310;P78310-5	.;CXAR_HUMAN;.	N	180	ENSP00000284878:D180N;ENSP00000383030:D180N;ENSP00000383033:D180N;ENSP00000303395:D180N	ENSP00000284878:D180N	D	+	1	0	CXADR	17853287	0.024000	0.19004	0.423000	0.26634	0.929000	0.56500	0.237000	0.17985	-0.006000	0.14370	0.650000	0.86243	GAC		0.383	CXADR-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000158209.1			18	68	0	0	0	0	18	68				
KRTAP15-1	254950	broad.mit.edu	37	21	31812732	31812732	+	Missense_Mutation	SNP	C	C	G	rs138157793	byFrequency	TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr21:31812732C>G	ENST00000334067.3	+	1	136	c.87C>G	c.(85-87)ttC>ttG	p.F29L		NM_181623.1	NP_853654.1	Q3LI76	KR151_HUMAN	keratin associated protein 15-1	29						intermediate filament (GO:0005882)				kidney(1)|large_intestine(3)|lung(6)|skin(1)	11						ATAATTTGTTCTACCCCAGCA	0.478																																						uc002yod.2		NA																	0					0						c.(85-87)TTC>TTG		keratin associated protein 15-1							89.0	89.0	89.0					21																	31812732		2203	4300	6503	SO:0001583	missense	254950					intermediate filament		g.chr21:31812732C>G	AP001708	CCDS13593.1	21q22.1	2008-05-21			ENSG00000186970	ENSG00000186970		"""Keratin associated proteins"""	18927	protein-coding gene	gene with protein product						12359730	Standard	NM_181623		Approved	KAP15.1	uc002yod.3	Q3LI76	OTTHUMG00000057784	ENST00000334067.3:c.87C>G	21.37:g.31812732C>G	ENSP00000334866:p.Phe29Leu						p.F29L	NM_181623	NP_853654	Q3LI76	KR151_HUMAN			1	87	+			29					Q2M3F4	Missense_Mutation	SNP	ENST00000334067.3	37	c.87C>G	CCDS13593.1	.	.	.	.	.	.	.	.	.	.	C	0.588	-0.834060	0.02713	.	.	ENSG00000186970	ENST00000334067	T	0.02446	4.29	4.79	2.93	0.34026	.	0.589068	0.15173	N	0.276509	T	0.03564	0.0102	L	0.51422	1.61	0.22317	N	0.999201	B	0.29301	0.241	B	0.30105	0.111	T	0.37572	-0.9700	10	0.41790	T	0.15	-6.7186	6.5223	0.22283	0.0:0.7219:0.1825:0.0956	.	29	Q3LI76	KR151_HUMAN	L	29	ENSP00000334866:F29L	ENSP00000334866:F29L	F	+	3	2	KRTAP15-1	30734603	0.260000	0.24053	0.864000	0.33941	0.004000	0.04260	0.863000	0.27913	0.900000	0.36469	-0.136000	0.14681	TTC		0.478	KRTAP15-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128236.1			3	111	0	0	0	0	3	111				
SON	6651	broad.mit.edu	37	21	34931614	34931614	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr21:34931614G>A	ENST00000356577.4	+	5	6875	c.6400G>A	c.(6400-6402)Gaa>Aaa	p.E2134K	SON_ENST00000381692.2_Missense_Mutation_p.E162K|SON_ENST00000300278.4_Missense_Mutation_p.E2134K|SON_ENST00000290239.6_Missense_Mutation_p.E2134K	NM_138927.1	NP_620305	P18583	SON_HUMAN	SON DNA binding protein	2134					cytokinesis (GO:0000910)|microtubule cytoskeleton organization (GO:0000226)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|regulation of cell cycle (GO:0051726)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)|nucleus (GO:0005634)	DNA binding (GO:0003677)|nucleic acid binding (GO:0003676)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						TGAAGAGGAAGAAGAACCTCC	0.323																																						uc002yse.1		NA																	0				ovary(4)|skin(2)	6						c.(6400-6402)GAA>AAA		SON DNA-binding protein isoform F							159.0	158.0	158.0					21																	34931614		2203	4300	6503	SO:0001583	missense	6651				anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation	nuclear speck	DNA binding|double-stranded RNA binding	g.chr21:34931614G>A	AF380181	CCDS13629.1, CCDS13631.1, CCDS74784.1	21q22.1-q22.2	2013-01-28			ENSG00000159140	ENSG00000159140		"""G patch domain containing"""	11183	protein-coding gene	gene with protein product	"""NRE-binding protein"", ""negative regulatory element-binding protein"", ""Bax antagonist selected in Saccharomyces 1"""	182465		C21orf50		8318737, 21551269	Standard	NM_032195		Approved	DBP-5, NREBP, KIAA1019, BASS1, FLJ21099, FLJ33914	uc002yse.1	P18583	OTTHUMG00000065806	ENST00000356577.4:c.6400G>A	21.37:g.34931614G>A	ENSP00000348984:p.Glu2134Lys					SON_uc002ysc.2_Missense_Mutation_p.E2134K|SON_uc002ysd.2_Missense_Mutation_p.E1125K|SON_uc002ysf.1_Missense_Mutation_p.E162K|SON_uc002ysg.2_Missense_Mutation_p.E1125K	p.E2134K	NM_138927	NP_620305	P18583	SON_HUMAN			5	6449	+			2134					D3DSF5|D3DSF6|E7ETE8|E7EU67|E7EVW3|E9PFQ2|O14487|O95981|Q14120|Q6PKE0|Q9H7B1|Q9P070|Q9P072|Q9UKP9|Q9UPY0	Missense_Mutation	SNP	ENST00000356577.4	37	c.6400G>A	CCDS13629.1	.	.	.	.	.	.	.	.	.	.	G	14.12	2.439913	0.43326	.	.	ENSG00000159140	ENST00000356577;ENST00000290239;ENST00000381692;ENST00000300278;ENST00000421541	T;T;T	0.12672	2.68;2.68;2.66	5.3	5.3	0.74995	.	0.109289	0.41194	N	0.000936	T	0.31734	0.0806	L	0.46157	1.445	0.40396	D	0.97959	D;P;D;D;D	0.76494	0.999;0.651;0.996;0.996;0.998	D;B;P;P;D	0.73708	0.981;0.145;0.874;0.895;0.972	T	0.01078	-1.1459	10	0.52906	T	0.07	.	17.4985	0.87725	0.0:0.0:1.0:0.0	.	2134;162;2134;1815;2134	P18583-10;Q6ZRV7;P18583;P18583-2;P18583-3	.;.;SON_HUMAN;.;.	K	2134;2134;162;2134;195	ENSP00000348984:E2134K;ENSP00000290239:E2134K;ENSP00000300278:E2134K	ENSP00000290239:E2134K	E	+	1	0	SON	33853484	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.582000	0.74049	2.636000	0.89361	0.650000	0.86243	GAA		0.323	SON-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140978.2	NM_138927		11	143	0	0	0	0	11	143				
DSCAM	1826	broad.mit.edu	37	21	41684117	41684117	+	Silent	SNP	C	C	G			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr21:41684117C>G	ENST00000400454.1	-	9	2430	c.1953G>C	c.(1951-1953)acG>acC	p.T651T		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	651	Ig-like C2-type 7.				cell adhesion (GO:0007155)|dendrite morphogenesis (GO:0048813)|dendrite self-avoidance (GO:0070593)|locomotory behavior (GO:0007626)|negative regulation of cell adhesion (GO:0007162)|nervous system development (GO:0007399)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)	axon (GO:0030424)|extracellular region (GO:0005576)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TCAAGGAGCTCGTGAAGTCAA	0.547																																					Melanoma(134;970 1778 1785 21664 32388)	uc002yyq.1		NA																	0				ovary(6)|skin(4)|upper_aerodigestive_tract(1)	11						c.(1951-1953)ACG>ACC		Down syndrome cell adhesion molecule isoform							84.0	84.0	84.0					21																	41684117		1921	4147	6068	SO:0001819	synonymous_variant	1826				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding	g.chr21:41684117C>G	AF023449	CCDS42929.1	21q22.2-q22.3	2013-02-11			ENSG00000171587	ENSG00000171587		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	3039	protein-coding gene	gene with protein product		602523				9426258	Standard	NM_001271534		Approved	CHD2-42, CHD2-52	uc002yyq.1	O60469	OTTHUMG00000086732	ENST00000400454.1:c.1953G>C	21.37:g.41684117C>G						DSCAM_uc002yyr.1_RNA	p.T651T	NM_001389	NP_001380	O60469	DSCAM_HUMAN			9	2405	-		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)	651			Extracellular (Potential).|Ig-like C2-type 7.		O60468	Silent	SNP	ENST00000400454.1	37	c.1953G>C	CCDS42929.1																																																																																				0.547	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195029.1	NM_001389		20	78	0	0	0	0	20	78				
UFD1L	7353	broad.mit.edu	37	22	19463117	19463117	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr22:19463117G>C	ENST00000263202.10	-	2	141	c.12C>G	c.(10-12)ttC>ttG	p.F4L	UFD1L_ENST00000484101.1_5'UTR|UFD1L_ENST00000360834.4_Missense_Mutation_p.F4L|UFD1L_ENST00000399523.1_Missense_Mutation_p.F4L	NM_001035247.2|NM_005659.6	NP_001030324.2|NP_005650.2	Q92890	UFD1_HUMAN	ubiquitin fusion degradation 1 like (yeast)	4					proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|skeletal system development (GO:0001501)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ubiquitin-specific protease activity (GO:0004843)			large_intestine(3)|upper_aerodigestive_tract(1)	4	Colorectal(54;0.0993)					CGAACATGTTGAAAGAGAACT	0.423																																						uc002zpm.2		NA																	0					0						c.(10-12)TTC>TTG		ubiquitin fusion degradation 1-like isoform A							114.0	104.0	107.0					22																	19463117		2203	4300	6503	SO:0001583	missense	7353				skeletal system development|ubiquitin-dependent protein catabolic process	cytosol|nucleus	protein binding|ubiquitin-specific protease activity	g.chr22:19463117G>C	AJ239058	CCDS13761.1, CCDS33600.1, CCDS33600.2	22q11.2	2014-05-02	2005-10-10		ENSG00000070010	ENSG00000070010			12520	protein-coding gene	gene with protein product		601754	"""ubiquitin fusion degradation 1-like"""			9063746	Standard	NM_005659		Approved	UFD1	uc002zpm.2	Q92890	OTTHUMG00000150130	ENST00000263202.10:c.12C>G	22.37:g.19463117G>C	ENSP00000263202:p.Phe4Leu					UFD1L_uc002zpo.2_Missense_Mutation_p.F4L|UFD1L_uc011agy.1_Missense_Mutation_p.F4L|UFD1L_uc002zpp.2_5'UTR|UFD1L_uc010grq.2_5'UTR	p.F4L	NM_005659	NP_005650	Q92890	UFD1_HUMAN			2	142	-	Colorectal(54;0.0993)		4					A8MW31|Q9Y5N0	Missense_Mutation	SNP	ENST00000263202.10	37	c.12C>G	CCDS13761.1	.	.	.	.	.	.	.	.	.	.	G	15.98	2.993117	0.54041	.	.	ENSG00000070010	ENST00000263202;ENST00000360834;ENST00000399523;ENST00000399525;ENST00000421968	T;T;T;T	0.45276	0.91;0.9;0.95;0.98	5.72	3.65	0.41850	.	0.000000	0.85682	D	0.000000	T	0.43077	0.1231	M	0.71036	2.16	0.54753	D	0.999983	P;P	0.46457	0.563;0.878	B;B	0.42343	0.233;0.384	T	0.37361	-0.9709	10	0.40728	T	0.16	.	11.5332	0.50622	0.1958:0.0:0.8042:0.0	.	4;4	B4E3I3;Q92890	.;UFD1_HUMAN	L	4	ENSP00000263202:F4L;ENSP00000354079:F4L;ENSP00000382439:F4L;ENSP00000406680:F4L	ENSP00000263202:F4L	F	-	3	2	UFD1L	17843117	1.000000	0.71417	1.000000	0.80357	0.830000	0.47004	2.891000	0.48617	0.788000	0.33755	-0.793000	0.03317	TTC		0.423	UFD1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316460.6			14	61	0	0	0	0	14	61				
DGCR8	54487	broad.mit.edu	37	22	20079432	20079432	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr22:20079432C>G	ENST00000351989.3	+	7	1974	c.1545C>G	c.(1543-1545)atC>atG	p.I515M	DGCR8_ENST00000407755.1_Missense_Mutation_p.I515M|DGCR8_ENST00000383024.2_Missense_Mutation_p.I515M	NM_022720.6	NP_073557.3	Q8WYQ5	DGCR8_HUMAN	DGCR8 microprocessor complex subunit	515	DRBM 1. {ECO:0000255|PROSITE- ProRule:PRU00266}.|Necessary for heme-binding and pri-miRNA processing.|Necessary for interaction with DROSHA.				gene expression (GO:0010467)|primary miRNA processing (GO:0031053)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)			NS(2)|breast(1)|endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	Colorectal(54;0.0993)					AGGTCTGCATCCTGCACGAGT	0.468																																						uc002zri.2		NA																	0					0						c.(1543-1545)ATC>ATG		DiGeorge syndrome critical region gene 8							132.0	115.0	120.0					22																	20079432		2203	4300	6503	SO:0001583	missense	54487				primary miRNA processing	cytoplasm|cytoplasm|microtubule cytoskeleton|nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding	g.chr22:20079432C>G	AF165527, AB050770	CCDS13773.1, CCDS54501.1	22q11.2	2013-05-02	2013-05-02		ENSG00000128191	ENSG00000128191			2847	protein-coding gene	gene with protein product		609030	"""chromosome 22 open reading frame 12"", ""DiGeorge syndrome critical region gene 8"""	C22orf12		21454614	Standard	NM_001190326		Approved	DGCRK6, Gy1, pasha	uc002zri.3	Q8WYQ5	OTTHUMG00000150503	ENST00000351989.3:c.1545C>G	22.37:g.20079432C>G	ENSP00000263209:p.Ile515Met					DGCR8_uc010grz.2_Missense_Mutation_p.I515M|DGCR8_uc002zrj.2_Missense_Mutation_p.I158M	p.I515M	NM_022720	NP_073557	Q8WYQ5	DGCR8_HUMAN			7	1895	+	Colorectal(54;0.0993)		515			Necessary for interaction with DROSHA.|Necessary for heme-binding and pri-miRNA processing.|DRBM 1.		B2R8G1|Q6DCB2|Q6MZE9|Q6Y2L0|Q96G39|Q96GP8|Q9H6L8|Q9H6T7|Q9NRW2	Missense_Mutation	SNP	ENST00000351989.3	37	c.1545C>G	CCDS13773.1	.	.	.	.	.	.	.	.	.	.	C	18.54	3.646546	0.67358	.	.	ENSG00000128191	ENST00000351989;ENST00000383024;ENST00000407755	T;T;T	0.76839	-1.05;0.43;0.43	5.49	3.27	0.37495	Double-stranded RNA-binding (3);Double-stranded RNA-binding-like (1);	0.095514	0.64402	D	0.000001	D	0.84447	0.5474	M	0.66560	2.04	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.97110	0.996;1.0	D	0.84650	0.0700	10	0.66056	D	0.02	-14.7688	10.0797	0.42381	0.1834:0.7356:0.0:0.081	.	515;515	Q8WYQ5-3;Q8WYQ5	.;DGCR8_HUMAN	M	515	ENSP00000263209:I515M;ENSP00000372488:I515M;ENSP00000384726:I515M	ENSP00000263209:I515M	I	+	3	3	DGCR8	18459432	0.985000	0.35326	1.000000	0.80357	0.986000	0.74619	0.250000	0.18235	2.565000	0.86533	0.491000	0.48974	ATC		0.468	DGCR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318654.1			10	34	0	0	0	0	10	34				
TRMT2A	27037	broad.mit.edu	37	22	20102116	20102116	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr22:20102116G>C	ENST00000252136.7	-	7	1602	c.1214C>G	c.(1213-1215)tCt>tGt	p.S405C	TRMT2A_ENST00000403707.3_Missense_Mutation_p.S405C|TRMT2A_ENST00000492988.1_5'UTR|TRMT2A_ENST00000439169.2_Missense_Mutation_p.S405C|AC006547.8_ENST00000412713.1_RNA|RANBP1_ENST00000402752.1_5'Flank|RANBP1_ENST00000331821.3_5'Flank|RANBP1_ENST00000430524.1_5'Flank|TRMT2A_ENST00000404751.3_Missense_Mutation_p.S405C	NM_001257994.1|NM_022727.5|NM_182984.4	NP_001244923.1|NP_073564.3|NP_892029.2	Q8IZ69	TRM2A_HUMAN	tRNA methyltransferase 2 homolog A (S. cerevisiae)	405					RNA processing (GO:0006396)		nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA methyltransferase activity (GO:0008173)			breast(2)|endometrium(2)|lung(5)	9						GGCGTGTGGAGAGATCCGGAA	0.632																																						uc002zrk.1		NA																	0				breast(1)	1						c.(1213-1215)TCT>TGT		HpaII tiny fragments locus 9C							132.0	129.0	130.0					22																	20102116		2203	4300	6503	SO:0001583	missense	27037				RNA processing		nucleotide binding|RNA binding|RNA methyltransferase activity	g.chr22:20102116G>C	BC017184	CCDS13774.1, CCDS58793.1	22q11.21	2014-02-12	2012-06-12		ENSG00000099899	ENSG00000099899			24974	protein-coding gene	gene with protein product	"""HpaII tiny fragments locus 9C"""	611151				9417108, 18075473	Standard	NM_022727		Approved	HTF9C	uc002zrl.2	Q8IZ69	OTTHUMG00000150454	ENST00000252136.7:c.1214C>G	22.37:g.20102116G>C	ENSP00000252136:p.Ser405Cys					TRMT2A_uc002zrl.1_Missense_Mutation_p.S405C|TRMT2A_uc002zrm.1_Missense_Mutation_p.S227C|TRMT2A_uc002zrn.1_Missense_Mutation_p.S405C|RANBP1_uc011ahl.1_5'Flank|RANBP1_uc002zro.1_5'Flank|RANBP1_uc002zrp.2_5'Flank	p.S405C	NM_182984	NP_892029	Q8IZ69	TRM2A_HUMAN			8	1429	-			405					D3DX25|Q32P57|Q96ME6|Q9H732	Missense_Mutation	SNP	ENST00000252136.7	37	c.1214C>G	CCDS13774.1	.	.	.	.	.	.	.	.	.	.	G	29.2	4.988336	0.93106	.	.	ENSG00000099899	ENST00000252136;ENST00000403707;ENST00000404751;ENST00000439169	T;T;T	0.57273	0.51;0.51;0.41	4.67	4.67	0.58626	.	0.000000	0.85682	D	0.000000	D	0.83482	0.5264	H	0.98682	4.3	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	D	0.90449	0.4437	10	0.87932	D	0	-39.5509	17.3512	0.87324	0.0:0.0:1.0:0.0	.	405;405;405	F2Z2W7;Q8IZ69-2;Q8IZ69	.;.;TRM2A_HUMAN	C	405	ENSP00000252136:S405C;ENSP00000385807:S405C;ENSP00000395738:S405C	ENSP00000252136:S405C	S	-	2	0	TRMT2A	18482116	1.000000	0.71417	0.995000	0.50966	0.978000	0.69477	9.121000	0.94375	2.430000	0.82344	0.561000	0.74099	TCT		0.632	TRMT2A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318168.3	NM_022727		21	98	0	0	0	0	21	98				
ZNF280B	140883	broad.mit.edu	37	22	22843165	22843165	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr22:22843165T>C	ENST00000406426.1	-	4	1301	c.559A>G	c.(559-561)Agg>Ggg	p.R187G	ZNF280B_ENST00000360412.2_Missense_Mutation_p.R187G			Q86YH2	Z280B_HUMAN	zinc finger protein 280B	187					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R187G(1)		autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(2)	22	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)		READ - Rectum adenocarcinoma(21;0.145)		AGTTTAGCCCTTTTGGGATTT	0.388																																						uc002zwc.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(559-561)AGG>GGG		zinc finger protein 280B							102.0	103.0	103.0					22																	22843165		2203	4300	6503	SO:0001583	missense	140883				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr22:22843165T>C	AK097608	CCDS13799.1	22q11.2	2007-09-20	2007-09-20	2007-09-20	ENSG00000198477	ENSG00000275004			23022	protein-coding gene	gene with protein product			"""zinc finger protein 279"", ""suppressor of hairy wing homolog 2 (Drosophila)"""	ZNF279, SUHW2		9074928	Standard	NM_080764		Approved	5'OY11.1, ZNF632	uc002zwc.1	Q86YH2	OTTHUMG00000151066	ENST00000406426.1:c.559A>G	22.37:g.22843165T>C	ENSP00000385998:p.Arg187Gly					LOC96610_uc011aim.1_Intron	p.R187G	NM_080764	NP_542942	Q86YH2	Z280B_HUMAN		READ - Rectum adenocarcinoma(21;0.145)	4	1335	-	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)	187						Missense_Mutation	SNP	ENST00000406426.1	37	c.559A>G	CCDS13799.1	.	.	.	.	.	.	.	.	.	.	T	11.35	1.612860	0.28712	.	.	ENSG00000198477	ENST00000406426;ENST00000360412	T;T	0.23348	1.91;1.91	4.32	4.32	0.51571	.	.	.	.	.	T	0.28234	0.0697	M	0.68952	2.095	0.30209	N	0.797865	P	0.38582	0.638	B	0.37047	0.24	T	0.30707	-0.9969	9	0.59425	D	0.04	-3.9532	10.0613	0.42277	0.0:0.0:0.0:1.0	.	187	Q86YH2	Z280B_HUMAN	G	187	ENSP00000385998:R187G;ENSP00000353586:R187G	ENSP00000353586:R187G	R	-	1	2	ZNF280B	21173165	1.000000	0.71417	0.974000	0.42286	0.330000	0.28571	2.729000	0.47327	1.943000	0.56356	0.533000	0.62120	AGG		0.388	ZNF280B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321170.2	NM_080764		4	189	0	0	0	0	4	189				
BCR	613	broad.mit.edu	37	22	23523385	23523385	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr22:23523385G>A	ENST00000305877.8	+	1	989	c.238G>A	c.(238-240)Gcg>Acg	p.A80T	BCR_ENST00000398512.5_Missense_Mutation_p.A80T|BCR_ENST00000359540.3_Missense_Mutation_p.A80T	NM_004327.3	NP_004318.3	P11274	BCR_HUMAN	breakpoint cluster region	80	Kinase.				actin cytoskeleton organization (GO:0030036)|brain development (GO:0007420)|inner ear morphogenesis (GO:0042472)|negative regulation of cell migration (GO:0030336)|negative regulation of inflammatory response (GO:0050728)|negative regulation of neutrophil degranulation (GO:0043314)|neuromuscular process controlling balance (GO:0050885)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of phagocytosis (GO:0050766)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell cycle (GO:0051726)|regulation of small GTPase mediated signal transduction (GO:0051056)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	ATP binding (GO:0005524)|GTPase activator activity (GO:0005096)|kinase activity (GO:0016301)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)|Rac GTPase activator activity (GO:0030675)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)		BCR/JAK2(6)	central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	35					Bosutinib(DB06616)|Ponatinib(DB08901)	CTTCCGGCGCGCGGCGCAGGC	0.736			T	"""ABL1,  FGFR1, JAK2 """	"""CML, ALL, AML"""																																	uc002zww.2		NA		Dom	yes		22	22q11.21	613	T	breakpoint cluster region			L	ABL1| FGFR1|JAK2 		CML|ALL|AML	BCR/JAK2(6)	0				haematopoietic_and_lymphoid_tissue(6)|central_nervous_system(3)|urinary_tract(1)|lung(1)|skin(1)	12						c.(238-240)GCG>ACG		breakpoint cluster region isoform 1							10.0	10.0	10.0					22																	23523385		1991	3972	5963	SO:0001583	missense	613				regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	ATP binding|GTPase activator activity|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr22:23523385G>A		CCDS13806.1, CCDS13807.1	22q11	2013-01-10			ENSG00000186716	ENSG00000186716		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	1014	protein-coding gene	gene with protein product		151410		D22S11, BCR1		1657398, 18070886	Standard	NM_004327		Approved	D22S662, CML, PHL, ALL	uc002zww.3	P11274	OTTHUMG00000150655	ENST00000305877.8:c.238G>A	22.37:g.23523385G>A	ENSP00000303507:p.Ala80Thr					BCR_uc002zwx.2_Missense_Mutation_p.A80T	p.A80T	NM_004327	NP_004318	P11274	BCR_HUMAN			1	834	+			80			Kinase.		P78501|Q12842|Q4LE80|Q6NZI3	Missense_Mutation	SNP	ENST00000305877.8	37	c.238G>A	CCDS13806.1	.	.	.	.	.	.	.	.	.	.	G	7.673	0.687318	0.14973	.	.	ENSG00000186716	ENST00000305877;ENST00000359540;ENST00000398512;ENST00000290956;ENST00000292697;ENST00000420248	T;T;T	0.41065	1.81;1.82;1.01	3.35	2.3	0.28687	.	0.248417	0.32785	U	0.005658	T	0.17023	0.0409	N	0.02539	-0.55	0.09310	N	1	B;B	0.15141	0.012;0.007	B;B	0.04013	0.001;0.0	T	0.19745	-1.0296	10	0.21540	T	0.41	.	11.2921	0.49256	0.0:0.3556:0.6444:0.0	.	80;80	P11274-2;P11274	.;BCR_HUMAN	T	80	ENSP00000303507:A80T;ENSP00000352535:A80T;ENSP00000381524:A80T	ENSP00000290956:A80T	A	+	1	0	BCR	21853385	0.296000	0.24398	0.578000	0.28575	0.101000	0.19017	0.958000	0.29227	0.691000	0.31592	-0.837000	0.03062	GCG		0.736	BCR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075819.1	NM_004327		3	4	0	0	0	0	3	4				
ASPHD2	57168	broad.mit.edu	37	22	26829810	26829810	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr22:26829810C>G	ENST00000215906.5	+	2	667	c.229C>G	c.(229-231)Cac>Gac	p.H77D		NM_020437.4	NP_065170.2	Q6ICH7	ASPH2_HUMAN	aspartate beta-hydroxylase domain containing 2	77					peptidyl-amino acid modification (GO:0018193)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)			endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(4)|urinary_tract(1)	16						GTACTGTTATCACGTGGGCAG	0.637																																						uc003acg.2		NA																	0				ovary(1)	1						c.(229-231)CAC>GAC		aspartate beta-hydroxylase domain containing 2							93.0	78.0	83.0					22																	26829810		2203	4300	6503	SO:0001583	missense	57168				peptidyl-amino acid modification	integral to endoplasmic reticulum membrane	oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity	g.chr22:26829810C>G	AK097157	CCDS13834.2	22q12.1	2006-02-02			ENSG00000128203	ENSG00000128203			30437	protein-coding gene	gene with protein product							Standard	NM_020437		Approved	FLJ39838	uc003acg.2	Q6ICH7	OTTHUMG00000150884	ENST00000215906.5:c.229C>G	22.37:g.26829810C>G	ENSP00000215906:p.His77Asp						p.H77D	NM_020437	NP_065170	Q6ICH7	ASPH2_HUMAN			2	626	+			77			Helical; (Potential).		B2RCH3|Q7L0W3|Q9NSN3	Missense_Mutation	SNP	ENST00000215906.5	37	c.229C>G	CCDS13834.2	.	.	.	.	.	.	.	.	.	.	C	14.64	2.595695	0.46318	.	.	ENSG00000128203	ENST00000215906	T	0.44083	0.93	4.57	4.57	0.56435	.	0.063133	0.64402	D	0.000011	T	0.29882	0.0747	N	0.14661	0.345	0.43608	D	0.995978	B	0.25105	0.118	B	0.23852	0.049	T	0.19257	-1.0311	10	0.72032	D	0.01	-31.3637	16.5399	0.84382	0.0:1.0:0.0:0.0	.	77	Q6ICH7	ASPH2_HUMAN	D	77	ENSP00000215906:H77D	ENSP00000215906:H77D	H	+	1	0	ASPHD2	25159810	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	4.140000	0.58031	2.368000	0.80403	0.563000	0.77884	CAC		0.637	ASPHD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320422.1	NM_020437		23	74	0	0	0	0	23	74				
TBC1D10A	83874	broad.mit.edu	37	22	30691787	30691787	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr22:30691787C>T	ENST00000215790.7	-	4	627	c.463G>A	c.(463-465)Gag>Aag	p.E155K	TBC1D10A_ENST00000403362.1_Missense_Mutation_p.E67K|RP1-130H16.18_ENST00000447976.1_Missense_Mutation_p.E29K|TBC1D10A_ENST00000403477.3_Missense_Mutation_p.E162K	NM_031937.2	NP_114143.1	Q9BXI6	TB10A_HUMAN	TBC1 domain family, member 10A	155	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				activation of cysteine-type endopeptidase activity (GO:0097202)|positive regulation of proteolysis (GO:0045862)|retrograde transport, endosome to Golgi (GO:0042147)	extracellular vesicular exosome (GO:0070062)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|PDZ domain binding (GO:0030165)|Rab GTPase activator activity (GO:0005097)			cervix(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						AGGTCACGCTCAATCACGTCC	0.617																																						uc011akt.1		NA																	0				ovary(1)	1						c.(463-465)GAG>AAG		TBC1 domain family, member 10A							60.0	52.0	55.0					22																	30691787		2203	4300	6503	SO:0001583	missense	83874					intracellular|microvillus	guanyl-nucleotide exchange factor activity|PDZ domain binding|Rab GTPase activator activity	g.chr22:30691787C>T	AF331038	CCDS13874.1, CCDS56227.1	22q12.2	2013-07-09	2005-03-10	2005-03-10	ENSG00000099992	ENSG00000099992			23609	protein-coding gene	gene with protein product	"""EBP50-PDZ interactor of 64 kD"""	610020	"""TBC1 domain family, member 10"""	TBC1D10		11285285, 20404108	Standard	NM_001204240		Approved	EPI64, AC004997.C22.2	uc010gvu.3	Q9BXI6	OTTHUMG00000150924	ENST00000215790.7:c.463G>A	22.37:g.30691787C>T	ENSP00000215790:p.Glu155Lys					GATSL3_uc003ahf.2_RNA|GATSL3_uc003ahg.2_RNA|GATSL3_uc003ahh.2_RNA|GATSL3_uc010gvq.2_RNA|GATSL3_uc003ahi.2_Missense_Mutation_p.E13K|TBC1D10A_uc003ahj.3_Missense_Mutation_p.E67K|TBC1D10A_uc010gvu.2_Missense_Mutation_p.E162K|TBC1D10A_uc003ahk.3_Missense_Mutation_p.E155K	p.E155K	NM_031937	NP_114143	Q9BXI6	TB10A_HUMAN			4	487	-			155			Rab-GAP TBC.		B3KXT8|O76053|Q20WK7|Q543A2	Missense_Mutation	SNP	ENST00000215790.7	37	c.463G>A	CCDS13874.1	.	.	.	.	.	.	.	.	.	.	C	15.93	2.978752	0.53720	.	.	ENSG00000248751;ENSG00000099992;ENSG00000099992;ENSG00000099992;ENSG00000099992	ENST00000434291;ENST00000215790;ENST00000403477;ENST00000403362;ENST00000393906	T;T;T;T;T	0.16897	2.31;2.31;2.31;2.31;2.31	4.63	4.63	0.57726	Rab-GAP/TBC domain (4);	0.000000	0.85682	D	0.000000	T	0.15349	0.0370	L	0.33137	0.985	0.58432	D	0.999997	B;B;B;B	0.33379	0.379;0.41;0.379;0.226	B;B;B;B	0.40329	0.326;0.241;0.326;0.241	T	0.02004	-1.1231	10	0.06891	T	0.86	.	14.4315	0.67254	0.0:0.8522:0.1478:0.0	.	155;162;155;155	Q20WK7;B3KXT8;Q9BXI6;A7E244	.;.;TB10A_HUMAN;.	K	29;155;162;67;67	ENSP00000401535:E29K;ENSP00000215790:E155K;ENSP00000384996:E162K;ENSP00000385050:E67K;ENSP00000377484:E67K	ENSP00000331267:E16K	E	-	1	0	TBC1D10A;RP1-130H16.18	29021787	0.999000	0.42202	1.000000	0.80357	0.998000	0.95712	3.866000	0.56040	2.572000	0.86782	0.655000	0.94253	GAG		0.617	TBC1D10A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000320550.1	NM_031937		9	48	0	0	0	0	9	48				
TRIOBP	11078	broad.mit.edu	37	22	38119504	38119504	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr22:38119504C>T	ENST00000406386.3	+	7	1196	c.941C>T	c.(940-942)tCc>tTc	p.S314F		NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	314					actin modification (GO:0030047)|barbed-end actin filament capping (GO:0051016)|mitotic nuclear division (GO:0007067)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	actin filament binding (GO:0051015)|GTP-Rho binding (GO:0017049)|myosin II binding (GO:0045159)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					AGGGCCTCATCCACCCAAGAG	0.607																																						uc003atr.2		NA																	0				central_nervous_system(1)	1						c.(940-942)TCC>TTC		TRIO and F-actin binding protein isoform 6							139.0	160.0	153.0					22																	38119504		1945	4132	6077	SO:0001583	missense	11078				actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding	g.chr22:38119504C>T	AB051449	CCDS33644.1, CCDS43015.1, CCDS43016.1	22q13.1	2014-06-03			ENSG00000100106	ENSG00000100106		"""Pleckstrin homology (PH) domain containing"""	17009	protein-coding gene	gene with protein product		609761		DFNB28		11148140, 16385457, 16385458	Standard	NM_001039141		Approved	HRIHFB2122, KIAA1662, Tara, TAP68	uc003atr.3	Q9H2D6	OTTHUMG00000150657	ENST00000406386.3:c.941C>T	22.37:g.38119504C>T	ENSP00000384312:p.Ser314Phe					TRIOBP_uc003atu.2_Missense_Mutation_p.S142F|TRIOBP_uc003atq.1_Missense_Mutation_p.S314F|TRIOBP_uc003ats.1_Missense_Mutation_p.S142F	p.S314F	NM_001039141	NP_001034230	Q9H2D6	TARA_HUMAN			7	1212	+	Melanoma(58;0.0574)		314					B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	Missense_Mutation	SNP	ENST00000406386.3	37	c.941C>T	CCDS43015.1	.	.	.	.	.	.	.	.	.	.	c	13.53	2.263275	0.39995	.	.	ENSG00000100106	ENST00000406386;ENST00000417174	T	0.26957	1.7	3.34	3.34	0.38264	.	.	.	.	.	T	0.21387	0.0515	L	0.43923	1.385	0.22918	N	0.998564	B	0.20459	0.045	B	0.21360	0.034	T	0.15983	-1.0418	9	0.56958	D	0.05	.	6.6424	0.22917	0.0:0.8594:0.0:0.1406	.	314	Q9H2D6	TARA_HUMAN	F	314	ENSP00000384312:S314F	ENSP00000384312:S314F	S	+	2	0	TRIOBP	36449450	0.000000	0.05858	0.003000	0.11579	0.022000	0.10575	0.080000	0.14802	1.430000	0.47334	0.373000	0.22412	TCC		0.607	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319439.2			62	159	0	0	0	0	62	159				
H1F0	3005	broad.mit.edu	37	22	38202088	38202088	+	Silent	SNP	G	G	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr22:38202088G>A	ENST00000340857.2	+	1	975	c.537G>A	c.(535-537)gtG>gtA	p.V179V	GCAT_ENST00000323205.6_5'Flank|GCAT_ENST00000248924.6_5'Flank	NM_005318.3	NP_005309.1	P07305	H10_HUMAN	H1 histone family, member 0	179					apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|nucleosome assembly (GO:0006334)	actin cytoskeleton (GO:0015629)|Golgi apparatus (GO:0005794)|nuclear chromatin (GO:0000790)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(1)|kidney(2)|prostate(2)|urinary_tract(1)	7	Melanoma(58;0.045)					CCAAACCAGTGAAACCCAAAG	0.502																																					NSCLC(191;1872 2984 30230 41544)|Esophageal Squamous(4;11 371 39444 52196)	uc003aty.2		NA																	0					0						c.(535-537)GTG>GTA		H1 histone family, member 0							58.0	60.0	59.0					22																	38202088		2202	4300	6502	SO:0001819	synonymous_variant	3005				DNA fragmentation involved in apoptotic nuclear change|nucleosome assembly	actin cytoskeleton|Golgi apparatus|nucleoplasm|nucleosome	DNA binding	g.chr22:38202088G>A	X03473	CCDS13956.1	22q13.1	2011-01-27			ENSG00000189060	ENSG00000189060		"""Histones / Replication-independent"""	4714	protein-coding gene	gene with protein product	"""H1.0, H1(0), H1-0"""	142708		H1FV		3084796	Standard	NM_005318		Approved	H10	uc003aty.3	P07305	OTTHUMG00000150659	ENST00000340857.2:c.537G>A	22.37:g.38202088G>A						GCAT_uc003atz.2_5'Flank|GCAT_uc003aua.1_5'Flank	p.V179V	NM_005318	NP_005309	P07305	H10_HUMAN			1	975	+	Melanoma(58;0.045)		179					B2R6I0|B4DRD6|Q6FG88|Q8N6R3	Silent	SNP	ENST00000340857.2	37	c.537G>A	CCDS13956.1																																																																																				0.502	H1F0-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319453.1	NM_005318		19	44	0	0	0	0	19	44				
C22orf23	84645	broad.mit.edu	37	22	38349119	38349119	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr22:38349119C>G	ENST00000249079.2	-	2	294	c.38G>C	c.(37-39)gGa>gCa	p.G13A	POLR2F_ENST00000460648.1_5'Flank|POLR2F_ENST00000606538.1_5'Flank|POLR2F_ENST00000470701.1_5'Flank|RP5-1039K5.17_ENST00000609976.1_RNA|POLR2F_ENST00000407936.1_5'Flank|C22orf23_ENST00000403305.1_Missense_Mutation_p.G13A|C22orf23_ENST00000403026.1_Missense_Mutation_p.G13A|POLR2F_ENST00000405557.1_5'Flank|POLR2F_ENST00000488684.1_5'Flank|POLR2F_ENST00000442738.2_5'Flank			Q9BZE7	EVG1_HUMAN	chromosome 22 open reading frame 23	13										endometrium(3)|kidney(2)|large_intestine(7)	12	Melanoma(58;0.045)					GAACCCAGTTCCTTTGGTCAC	0.577																																						uc003auj.1		NA																	0					0						c.(37-39)GGA>GCA		hypothetical protein LOC84645							132.0	126.0	128.0					22																	38349119		2203	4300	6503	SO:0001583	missense	84645							g.chr22:38349119C>G	AF324466	CCDS13962.1, CCDS74860.1	22q13.1	2013-10-11			ENSG00000128346	ENSG00000128346			18589	protein-coding gene	gene with protein product						11237012	Standard	NM_032561		Approved	FLJ32787, EVG1, LOC84645	uc003auj.2	Q9BZE7	OTTHUMG00000150672	ENST00000249079.2:c.38G>C	22.37:g.38349119C>G	ENSP00000249079:p.Gly13Ala					C22orf23_uc003auk.1_Missense_Mutation_p.G13A|POLR2F_uc010gxi.2_5'Flank|POLR2F_uc003aul.2_5'Flank|POLR2F_uc003aum.2_5'Flank	p.G13A	NM_032561	NP_115950	Q9BZE7	EVG1_HUMAN			2	129	-	Melanoma(58;0.045)		13					Q5JYU9|Q96M68	Missense_Mutation	SNP	ENST00000249079.2	37	c.38G>C	CCDS13962.1	.	.	.	.	.	.	.	.	.	.	C	8.308	0.821549	0.16678	.	.	ENSG00000128346	ENST00000403305;ENST00000249079;ENST00000403026;ENST00000418863;ENST00000422191	T;T;T;T;T	0.71817	-0.6;-0.6;-0.6;-0.6;-0.6	5.07	0.621	0.17643	.	0.440597	0.22682	N	0.056936	T	0.67627	0.2913	M	0.82716	2.605	0.09310	N	0.999998	B	0.19331	0.035	B	0.28305	0.088	T	0.58983	-0.7539	10	0.38643	T	0.18	-0.9842	4.8095	0.13337	0.0:0.5862:0.1584:0.2554	.	13	Q9BZE7	EVG1_HUMAN	A	13	ENSP00000384667:G13A;ENSP00000249079:G13A;ENSP00000384618:G13A;ENSP00000395077:G13A;ENSP00000407707:G13A	ENSP00000249079:G13A	G	-	2	0	C22orf23	36679065	0.520000	0.26250	0.006000	0.13384	0.082000	0.17680	0.501000	0.22578	-0.048000	0.13401	-0.273000	0.10243	GGA		0.577	C22orf23-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319564.1	NM_032561		39	143	0	0	0	0	39	143				
DMC1	11144	broad.mit.edu	37	22	38945946	38945946	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr22:38945946C>G	ENST00000216024.2	-	8	754	c.478G>C	c.(478-480)Gat>Cat	p.D160H	DMC1_ENST00000428462.2_Intron	NM_007068.2	NP_008999.2	Q14565	DMC1_HUMAN	DNA meiotic recombinase 1	160					female gamete generation (GO:0007292)|male meiosis I (GO:0007141)|meiotic nuclear division (GO:0007126)|oocyte maturation (GO:0001556)|ovarian follicle development (GO:0001541)|reciprocal meiotic recombination (GO:0007131)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|synapsis (GO:0007129)	chromosome (GO:0005694)|chromosome, telomeric region (GO:0000781)|condensed nuclear chromosome (GO:0000794)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)			large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	11	Melanoma(58;0.0286)					TTTTCTGTATCAATGAAGATA	0.328								Homologous recombination																														uc003avz.1		NA																	0				ovary(1)	1						c.(478-480)GAT>CAT	Homologous_recombination	DMC1 dosage suppressor of mck1 homolog							45.0	45.0	45.0					22																	38945946		2203	4298	6501	SO:0001583	missense	11144				reciprocal meiotic recombination	condensed nuclear chromosome	ATP binding|DNA binding|DNA-dependent ATPase activity|protein binding	g.chr22:38945946C>G	D63882	CCDS13973.1, CCDS63477.1	22q13.1	2013-05-02	2013-05-02		ENSG00000100206	ENSG00000100206			2927	protein-coding gene	gene with protein product		602721	"""DMC1 (dosage suppressor of mck1, yeast homolog) meiosis-specific homologous recombination"", ""DMC1 dosage suppressor of mck1 homolog, meiosis-specific homologous recombination (yeast)"""			8602360, 8590282, 17541404	Standard	NM_007068		Approved	LIM15	uc003avz.2	Q14565	OTTHUMG00000151088	ENST00000216024.2:c.478G>C	22.37:g.38945946C>G	ENSP00000216024:p.Asp160His					DMC1_uc011anv.1_Intron|DMC1_uc003awa.1_Missense_Mutation_p.D160H	p.D160H	NM_007068	NP_008999	Q14565	DMC1_HUMAN			8	653	-	Melanoma(58;0.0286)		160					A8K9A2|B4DMW6|Q08AI1|Q99498|Q9UH11	Missense_Mutation	SNP	ENST00000216024.2	37	c.478G>C	CCDS13973.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.239228	0.79800	.	.	ENSG00000100206	ENST00000216024;ENST00000366173	T	0.60171	0.21	5.53	5.53	0.82687	DNA recombination/repair protein RecA/RadB, ATP-binding domain (1);ATPase, AAA+ type, core (1);DNA recombination and repair protein Rad51, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.86727	0.6002	H	0.98769	4.325	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.92042	0.5641	10	0.87932	D	0	-19.7505	19.046	0.93019	0.0:1.0:0.0:0.0	.	160;160	Q8IYL1;Q14565	.;DMC1_HUMAN	H	160	ENSP00000216024:D160H	ENSP00000216024:D160H	D	-	1	0	DMC1	37275892	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.146000	0.71777	2.588000	0.87417	0.650000	0.86243	GAT		0.328	DMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321246.2	NM_007068		8	40	0	0	0	0	8	40				
SUN2	25777	broad.mit.edu	37	22	39138314	39138314	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr22:39138314G>A	ENST00000405510.1	-	10	1418	c.1060C>T	c.(1060-1062)Cgc>Tgc	p.R354C	RP3-508I15.22_ENST00000607991.1_RNA|SUN2_ENST00000216064.4_Missense_Mutation_p.R354C|SUN2_ENST00000406622.1_Missense_Mutation_p.R354C|RP3-508I15.21_ENST00000609212.1_RNA|SUN2_ENST00000405018.1_Missense_Mutation_p.R375C|SUN2_ENST00000411587.2_Missense_Mutation_p.R343C|RP3-508I15.14_ENST00000416406.1_RNA	NM_001199580.1	NP_001186509.1	Q9UH99	SUN2_HUMAN	Sad1 and UNC84 domain containing 2	354					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|mitotic spindle organization (GO:0007052)|nuclear envelope organization (GO:0006998)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)	condensed nuclear chromosome (GO:0000794)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|nuclear chromosome, telomeric region (GO:0000784)|nuclear envelope (GO:0005635)|nuclear inner membrane (GO:0005637)|nuclear membrane (GO:0031965)|SUN-KASH complex (GO:0034993)	identical protein binding (GO:0042802)|lamin binding (GO:0005521)|microtubule binding (GO:0008017)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(2)|stomach(1)	15						ACCTGGATGCGAGCAGCAGTT	0.607																																						uc003awh.1		NA																	0				large_intestine(1)|skin(1)	2						c.(1060-1062)CGC>TGC		unc-84 homolog B							51.0	49.0	50.0					22																	39138314		2203	4300	6503	SO:0001583	missense	25777				centrosome localization|cytoskeletal anchoring at nuclear membrane|mitotic spindle organization|nuclear envelope organization|nuclear matrix anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	endosome membrane|integral to membrane|nuclear inner membrane|SUN-KASH complex	lamin binding|microtubule binding	g.chr22:39138314G>A	AF202723	CCDS13978.1, CCDS56231.1	22q12-q13	2010-05-18	2010-05-18	2010-01-27	ENSG00000100242	ENSG00000100242			14210	protein-coding gene	gene with protein product		613569	"""unc-84 homolog B (C. elegans)"""	UNC84B		10508607, 10375507	Standard	NM_015374		Approved		uc010gxq.2	Q9UH99	OTTHUMG00000151031	ENST00000405510.1:c.1060C>T	22.37:g.39138314G>A	ENSP00000385740:p.Arg354Cys					SUN2_uc011anz.1_Missense_Mutation_p.R389C|SUN2_uc011aoa.1_Missense_Mutation_p.R343C|SUN2_uc003awi.1_Missense_Mutation_p.R354C|SUN2_uc010gxq.1_Missense_Mutation_p.R375C|SUN2_uc010gxr.1_Missense_Mutation_p.R354C|SUN2_uc010gxs.1_Missense_Mutation_p.R354C	p.R354C	NM_015374	NP_056189	Q9UH99	SUN2_HUMAN			10	1344	-			354			Potential.|Perinuclear space.		B0QY62|O75156|Q2NKN8|Q2T9F7|Q504T5|Q6B4H1|Q7Z3E3	Missense_Mutation	SNP	ENST00000405510.1	37	c.1060C>T	CCDS13978.1	.	.	.	.	.	.	.	.	.	.	G	15.43	2.830233	0.50845	.	.	ENSG00000100242	ENST00000405510;ENST00000216064;ENST00000405018;ENST00000406622;ENST00000411587	T;T;T;T;T	0.32272	1.46;1.46;1.46;1.46;1.46	5.24	5.24	0.73138	.	0.362236	0.23594	N	0.046513	T	0.26048	0.0635	N	0.19112	0.55	0.09310	N	1	D;D;D;D;D	0.65815	0.995;0.995;0.995;0.994;0.991	P;P;P;P;B	0.47528	0.549;0.549;0.549;0.517;0.425	T	0.10660	-1.0620	10	0.39692	T	0.17	-11.3973	13.4392	0.61104	0.0:0.0:0.8431:0.1569	.	343;389;354;375;354	B4DIU6;B4E2A6;Q2T9F7;B0QY62;Q9UH99	.;.;.;.;SUN2_HUMAN	C	354;354;375;354;343	ENSP00000385740:R354C;ENSP00000216064:R354C;ENSP00000385616:R375C;ENSP00000383992:R354C;ENSP00000395601:R343C	ENSP00000216064:R354C	R	-	1	0	SUN2	37468260	0.050000	0.20438	0.076000	0.20297	0.022000	0.10575	2.562000	0.45914	2.451000	0.82905	0.555000	0.69702	CGC		0.607	SUN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321057.1	XM_039332		9	43	0	0	0	0	9	43				
L3MBTL2	83746	broad.mit.edu	37	22	41613186	41613186	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr22:41613186C>T	ENST00000216237.5	+	5	738	c.580C>T	c.(580-582)Ccc>Tcc	p.P194S	RP4-756G23.5_ENST00000441316.1_RNA|RP4-756G23.5_ENST00000451176.1_RNA	NM_031488.4	NP_113676.2	Q969R5	LMBL2_HUMAN	l(3)mbt-like 2 (Drosophila)	194					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						CAAGGCTGCTCCCGTCAGCTG	0.632																																						uc003azo.2		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(580-582)CCC>TCC		l(3)mbt-like 2							76.0	66.0	69.0					22																	41613186		2203	4300	6503	SO:0001583	missense	83746				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	methylated histone residue binding|transcription corepressor activity|zinc ion binding	g.chr22:41613186C>T	AJ305226	CCDS14011.1	22q13.31-q13.33	2008-06-11			ENSG00000100395	ENSG00000100395			18594	protein-coding gene	gene with protein product		611865				11682070	Standard	NM_031488		Approved	H-l(3)mbt-l, DKFZP761I141, dJ756G23.3	uc003azo.3	Q969R5	OTTHUMG00000150942	ENST00000216237.5:c.580C>T	22.37:g.41613186C>T	ENSP00000216237:p.Pro194Ser					L3MBTL2_uc010gyi.1_Missense_Mutation_p.P103S|L3MBTL2_uc003azn.2_RNA|uc003azp.1_RNA	p.P194S	NM_031488	NP_113676	Q969R5	LMBL2_HUMAN			5	634	+			194			MBT 1.		Q8TEN1|Q96SC4|Q9BQI2|Q9UGS4	Missense_Mutation	SNP	ENST00000216237.5	37	c.580C>T	CCDS14011.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.7|23.7	4.448401|4.448401	0.84101|0.84101	.|.	.|.	ENSG00000100395|ENSG00000100395	ENST00000216237|ENST00000449635	T|.	0.37584|.	1.19|.	5.25|5.25	5.25|5.25	0.73442|0.73442	.|.	0.259771|.	0.39475|.	N|.	0.001360|.	T|T	0.70850|0.70850	0.3271|0.3271	L|L	0.49640|0.49640	1.575|1.575	0.58432|0.58432	D|D	0.999997|0.999997	B;D|.	0.63880|.	0.449;0.993|.	B;P|.	0.49477|.	0.083;0.612|.	T|T	0.66069|0.66069	-0.6015|-0.6015	10|5	0.51188|.	T|.	0.08|.	.|.	19.7339|19.7339	0.96193|0.96193	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	194;194|.	Q969R5-3;Q969R5|.	.;LMBL2_HUMAN|.	S|F	194|141	ENSP00000216237:P194S|.	ENSP00000216237:P194S|.	P|S	+|+	1|2	0|0	L3MBTL2|L3MBTL2	39943132|39943132	0.998000|0.998000	0.40836|0.40836	1.000000|1.000000	0.80357|0.80357	0.984000|0.984000	0.73092|0.73092	3.745000|3.745000	0.55119|0.55119	2.836000|2.836000	0.97738|0.97738	0.655000|0.655000	0.94253|0.94253	CCC|TCC		0.632	L3MBTL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320613.1	NM_031488		25	54	0	0	0	0	25	54				
L3MBTL2	83746	broad.mit.edu	37	22	41613200	41613200	+	Silent	SNP	C	C	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr22:41613200C>T	ENST00000216237.5	+	5	752	c.594C>T	c.(592-594)ttC>ttT	p.F198F	RP4-756G23.5_ENST00000441316.1_RNA|RP4-756G23.5_ENST00000451176.1_RNA	NM_031488.4	NP_113676.2	Q969R5	LMBL2_HUMAN	l(3)mbt-like 2 (Drosophila)	198					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TCAGCTGTTTCAAGCACGTGA	0.627																																						uc003azo.2		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(592-594)TTC>TTT		l(3)mbt-like 2							65.0	57.0	60.0					22																	41613200		2203	4300	6503	SO:0001819	synonymous_variant	83746				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	methylated histone residue binding|transcription corepressor activity|zinc ion binding	g.chr22:41613200C>T	AJ305226	CCDS14011.1	22q13.31-q13.33	2008-06-11			ENSG00000100395	ENSG00000100395			18594	protein-coding gene	gene with protein product		611865				11682070	Standard	NM_031488		Approved	H-l(3)mbt-l, DKFZP761I141, dJ756G23.3	uc003azo.3	Q969R5	OTTHUMG00000150942	ENST00000216237.5:c.594C>T	22.37:g.41613200C>T						L3MBTL2_uc010gyi.1_Silent_p.F107F|L3MBTL2_uc003azn.2_RNA|uc003azp.1_RNA	p.F198F	NM_031488	NP_113676	Q969R5	LMBL2_HUMAN			5	648	+			198			MBT 1.		Q8TEN1|Q96SC4|Q9BQI2|Q9UGS4	Silent	SNP	ENST00000216237.5	37	c.594C>T	CCDS14011.1	.	.	.	.	.	.	.	.	.	.	C	14.05	2.420285	0.42918	.	.	ENSG00000100395	ENST00000449635	.	.	.	5.15	-1.8	0.07907	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.7388	0.62836	0.0:0.7424:0.0:0.2576	.	.	.	.	X	146	.	.	Q	+	1	0	L3MBTL2	39943146	0.509000	0.26163	0.992000	0.48379	0.956000	0.61745	-0.175000	0.09825	-0.299000	0.08909	-0.302000	0.09304	CAA		0.627	L3MBTL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320613.1	NM_031488		20	51	0	0	0	0	20	51				
POLR3H	171568	broad.mit.edu	37	22	41925317	41925317	+	Silent	SNP	C	C	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr22:41925317C>T	ENST00000355209.4	-	6	928	c.585G>A	c.(583-585)ctG>ctA	p.L195L	POLR3H_ENST00000407461.1_Silent_p.L195L|POLR3H_ENST00000337566.5_Silent_p.L166L|POLR3H_ENST00000396504.2_Silent_p.L195L	NM_001018050.2	NP_001018060.1	Q9Y535	RPC8_HUMAN	polymerase (RNA) III (DNA directed) polypeptide H (22.9kD)	195					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|nucleobase-containing compound metabolic process (GO:0006139)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase III promoter (GO:0006384)	centrosome (GO:0005813)|cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)			breast(1)|lung(5)|skin(1)|urinary_tract(1)	8						AGAGAAGGCCCAGGCCTGGCT	0.597																																						uc003baf.2		NA																	0				skin(1)	1						c.(583-585)CTG>CTA		polymerase (RNA) III (DNA directed) polypeptide							65.0	60.0	61.0					22																	41925317		2203	4300	6503	SO:0001819	synonymous_variant	171568				innate immune response|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity	g.chr22:41925317C>T	AB051452	CCDS14018.1, CCDS33651.1	22q13	2013-01-21			ENSG00000100413	ENSG00000100413		"""RNA polymerase subunits"""	30349	protein-coding gene	gene with protein product						11258795, 12391170	Standard	XR_244356		Approved	RPC8, KIAA1665	uc003baf.3	Q9Y535	OTTHUMG00000150971	ENST00000355209.4:c.585G>A	22.37:g.41925317C>T						POLR3H_uc003bae.2_RNA|POLR3H_uc003bag.2_Silent_p.L195L|POLR3H_uc003bai.2_Silent_p.L166L	p.L195L	NM_138338	NP_612211	Q9Y535	RPC8_HUMAN			7	645	-			195					B0QYH9|Q5M7Y8|Q96AE3|Q9BY95	Silent	SNP	ENST00000355209.4	37	c.585G>A	CCDS14018.1																																																																																				0.597	POLR3H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320701.1	NM_138338		9	34	0	0	0	0	9	34				
ITPR1	3708	broad.mit.edu	37	3	4699900	4699900	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr3:4699900C>G	ENST00000443694.2	+	10	1044	c.1044C>G	c.(1042-1044)gaC>gaG	p.D348E	ITPR1_ENST00000302640.8_Missense_Mutation_p.D348E|ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000354582.6_Missense_Mutation_p.D363E|ITPR1_ENST00000357086.4_Missense_Mutation_p.D363E|ITPR1_ENST00000456211.2_Missense_Mutation_p.D348E|ITPR1_ENST00000423119.2_Missense_Mutation_p.D363E			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	363	MIR 4. {ECO:0000255|PROSITE- ProRule:PRU00131}.				activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|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)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of calcium-mediated signaling (GO:0050849)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|post-embryonic development (GO:0009791)|regulation of insulin secretion (GO:0050796)|release of sequestered calcium ion into cytosol (GO:0051209)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|voluntary musculoskeletal movement (GO:0050882)	calcineurin complex (GO:0005955)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|nucleolus (GO:0005730)|platelet dense granule membrane (GO:0031088)|platelet dense tubular network (GO:0031094)|platelet dense tubular network membrane (GO:0031095)|postsynaptic density (GO:0014069)|sarcoplasmic reticulum (GO:0016529)	calcium channel inhibitor activity (GO:0019855)|calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	Caffeine(DB00201)	AAGGCAATGACATCTCCTCCA	0.507																																						uc003bqa.2		NA																	0				lung(7)|breast(5)|ovary(4)|large_intestine(1)|liver(1)|skin(1)|kidney(1)|pancreas(1)	21						c.(1087-1089)GAC>GAG		inositol 1,4,5-triphosphate receptor, type 1							135.0	137.0	136.0					3																	4699900		1995	4166	6161	SO:0001583	missense	3708				activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding	g.chr3:4699900C>G	D26070	CCDS46740.1, CCDS46740.2, CCDS54550.1, CCDS54551.1	3p26.1	2014-06-12	2011-04-28			ENSG00000150995		"""Ion channels / Inositol triphosphate receptors"""	6180	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 94"""	147265	"""spinocerebellar ataxia 15"", ""spinocerebellar ataxia 16"", ""spinocerebellar ataxia 29"""	SCA15, SCA16, SCA29		7945203, 7500840, 17590087, 17932120, 22986007	Standard	NM_001099952		Approved	Insp3r1, IP3R1, ACV, PPP1R94	uc003bqc.3	Q14643		ENST00000443694.2:c.1044C>G	3.37:g.4699900C>G	ENSP00000401671:p.Asp348Glu					ITPR1_uc010hca.1_Missense_Mutation_p.D348E|ITPR1_uc011asu.1_Intron|ITPR1_uc010hcb.1_Missense_Mutation_p.D348E	p.D363E	NM_001099952	NP_001093422	Q14643	ITPR1_HUMAN		Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	13	1437	+			363			Cytoplasmic (Potential).|MIR 4.		E7EPX7|E9PDE9|Q14660|Q99897	Missense_Mutation	SNP	ENST00000443694.2	37	c.1089C>G	CCDS54551.1	.	.	.	.	.	.	.	.	.	.	C	15.89	2.965401	0.53507	.	.	ENSG00000150995	ENST00000356617;ENST00000302640;ENST00000354582;ENST00000423119;ENST00000357086;ENST00000456211;ENST00000443694	D;D;D;D;D;D	0.92965	-3.14;-3.14;-3.14;-3.14;-3.14;-3.14	5.19	-0.783	0.10958	MIR motif (2);MIR (2);	0.000000	0.85682	D	0.000000	D	0.93357	0.7882	L	0.60455	1.87	0.80722	D	1	D;P;D	0.76494	0.998;0.763;0.999	D;P;D	0.74348	0.971;0.67;0.983	D	0.90589	0.4535	10	0.39692	T	0.17	.	11.7772	0.51993	0.0:0.4961:0.0:0.5039	.	348;363;363	E7EPX7;Q14643;G5E9P1	.;ITPR1_HUMAN;.	E	363;348;363;363;363;348;348	ENSP00000306253:D348E;ENSP00000346595:D363E;ENSP00000405934:D363E;ENSP00000349597:D363E;ENSP00000397885:D348E;ENSP00000401671:D348E	ENSP00000306253:D348E	D	+	3	2	ITPR1	4674900	1.000000	0.71417	0.997000	0.53966	0.933000	0.57130	0.966000	0.29331	-0.012000	0.14223	-0.794000	0.03295	GAC		0.507	ITPR1-004	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337982.3	NM_002222		18	64	0	0	0	0	18	64				
ITPR1	3708	broad.mit.edu	37	3	4725457	4725457	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr3:4725457G>C	ENST00000443694.2	+	25	3428	c.3428G>C	c.(3427-3429)gGa>gCa	p.G1143A	ITPR1_ENST00000423119.2_Missense_Mutation_p.G1149A|ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000354582.6_Missense_Mutation_p.G1158A|ITPR1_ENST00000302640.8_Missense_Mutation_p.G1143A|ITPR1_ENST00000357086.4_Missense_Mutation_p.G1149A|ITPR1_ENST00000456211.2_Missense_Mutation_p.G1134A			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	1158					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|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)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of calcium-mediated signaling (GO:0050849)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|post-embryonic development (GO:0009791)|regulation of insulin secretion (GO:0050796)|release of sequestered calcium ion into cytosol (GO:0051209)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|voluntary musculoskeletal movement (GO:0050882)	calcineurin complex (GO:0005955)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|nucleolus (GO:0005730)|platelet dense granule membrane (GO:0031088)|platelet dense tubular network (GO:0031094)|platelet dense tubular network membrane (GO:0031095)|postsynaptic density (GO:0014069)|sarcoplasmic reticulum (GO:0016529)	calcium channel inhibitor activity (GO:0019855)|calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	Caffeine(DB00201)	GGTGCATCTGGAGAAAATGAA	0.473																																						uc003bqa.2		NA																	0				lung(7)|breast(5)|ovary(4)|large_intestine(1)|liver(1)|skin(1)|kidney(1)|pancreas(1)	21						c.(3445-3447)GGA>GCA		inositol 1,4,5-triphosphate receptor, type 1							60.0	57.0	58.0					3																	4725457		1926	4140	6066	SO:0001583	missense	3708				activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding	g.chr3:4725457G>C	D26070	CCDS46740.1, CCDS46740.2, CCDS54550.1, CCDS54551.1	3p26.1	2014-06-12	2011-04-28			ENSG00000150995		"""Ion channels / Inositol triphosphate receptors"""	6180	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 94"""	147265	"""spinocerebellar ataxia 15"", ""spinocerebellar ataxia 16"", ""spinocerebellar ataxia 29"""	SCA15, SCA16, SCA29		7945203, 7500840, 17590087, 17932120, 22986007	Standard	NM_001099952		Approved	Insp3r1, IP3R1, ACV, PPP1R94	uc003bqc.3	Q14643		ENST00000443694.2:c.3428G>C	3.37:g.4725457G>C	ENSP00000401671:p.Gly1143Ala					ITPR1_uc010hca.1_Missense_Mutation_p.G1134A|ITPR1_uc011asu.1_Intron|ITPR1_uc003bqc.2_Missense_Mutation_p.G80A	p.G1149A	NM_001099952	NP_001093422	Q14643	ITPR1_HUMAN		Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	28	3794	+			1158			Cytoplasmic (Potential).		E7EPX7|E9PDE9|Q14660|Q99897	Missense_Mutation	SNP	ENST00000443694.2	37	c.3446G>C	CCDS54551.1	.	.	.	.	.	.	.	.	.	.	G	2.936	-0.219900	0.06061	.	.	ENSG00000150995	ENST00000356617;ENST00000302640;ENST00000354582;ENST00000423119;ENST00000357086;ENST00000456211;ENST00000443694	D;D;D;D;D;D	0.90620	-2.69;-2.7;-2.69;-2.69;-2.69;-2.69	4.21	4.21	0.49690	.	0.245990	0.40908	D	0.000999	T	0.81356	0.4805	N	0.14661	0.345	0.80722	D	1	B;B	0.18166	0.026;0.009	B;B	0.12837	0.008;0.008	T	0.76181	-0.3053	10	0.08381	T	0.77	.	17.1403	0.86752	0.0:0.0:1.0:0.0	.	1158;1149	Q14643;G5E9P1	ITPR1_HUMAN;.	A	1158;1143;1158;1149;1149;1134;1143	ENSP00000306253:G1143A;ENSP00000346595:G1158A;ENSP00000405934:G1149A;ENSP00000349597:G1149A;ENSP00000397885:G1134A;ENSP00000401671:G1143A	ENSP00000306253:G1143A	G	+	2	0	ITPR1	4700457	1.000000	0.71417	0.567000	0.28434	0.012000	0.07955	6.811000	0.75221	2.349000	0.79799	0.563000	0.77884	GGA		0.473	ITPR1-004	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337982.3	NM_002222		19	44	0	0	0	0	19	44				
PRRT3	285368	broad.mit.edu	37	3	9990498	9990498	+	Nonsense_Mutation	SNP	G	G	C			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr3:9990498G>C	ENST00000412055.1	-	3	1244	c.1115C>G	c.(1114-1116)tCa>tGa	p.S372*	PRRT3_ENST00000411976.2_Nonsense_Mutation_p.S372*|PRRT3-AS1_ENST00000431558.1_RNA	NM_207351.3	NP_997234.3	Q5FWE3	PRRT3_HUMAN	proline-rich transmembrane protein 3	372	Pro-rich.					integral component of membrane (GO:0016021)				NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(1)|skin(1)|stomach(2)	13						GCCAGGGTCTGAGGGACCAGG	0.642																																						uc003bul.2		NA																	0					0						c.(1114-1116)TCA>TGA		proline-rich transmembrane protein 3 precursor							82.0	89.0	86.0					3																	9990498		1869	4099	5968	SO:0001587	stop_gained	285368					integral to membrane		g.chr3:9990498G>C	AK090993	CCDS43049.1	3p25.3	2011-10-10			ENSG00000163704	ENSG00000163704		"""Proline-rich transmembrane proteins"""	26591	protein-coding gene	gene with protein product							Standard	NM_207351		Approved	FLJ33674	uc003bul.2	Q5FWE3	OTTHUMG00000155285	ENST00000412055.1:c.1115C>G	3.37:g.9990498G>C	ENSP00000392511:p.Ser372*					CIDEC_uc003bto.2_Intron|PRRT3_uc003buk.2_RNA|PRRT3_uc003bum.2_Nonsense_Mutation_p.S372*	p.S372*	NM_207351	NP_997234	Q5FWE3	PRRT3_HUMAN			3	1245	-			372			Extracellular (Potential).|Pro-rich.		Q49AD0|Q6UXY6|Q8NBC9	Nonsense_Mutation	SNP	ENST00000412055.1	37	c.1115C>G	CCDS43049.1	.	.	.	.	.	.	.	.	.	.	G	17.64	3.439649	0.63067	.	.	ENSG00000163704	ENST00000412055;ENST00000411976	.	.	.	5.17	-8.68	0.00859	.	2.020440	0.03048	N	0.154180	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9375	16.9181	0.86156	0.2065:0.0:0.7935:0.0	.	.	.	.	X	372	.	.	S	-	2	0	PRRT3	9965498	0.000000	0.05858	0.000000	0.03702	0.759000	0.43091	-0.627000	0.05521	-2.007000	0.00956	-0.140000	0.14226	TCA		0.642	PRRT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339322.1	NM_207351		63	168	0	0	0	0	63	168				
VHL	7428	broad.mit.edu	37	3	10188211	10188211	+	Silent	SNP	C	C	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr3:10188211C>T	ENST00000256474.2	+	2	1194	c.354C>T	c.(352-354)ctC>ctT	p.L118L	VHL_ENST00000345392.2_Intron|VHL_ENST00000477538.1_3'UTR	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	118	Involved in binding to CCT complex.		L -> P (in VHLD; type I; dbSNP:rs5030830). {ECO:0000269|PubMed:8956040, ECO:0000269|PubMed:9829912}.|L -> R (in VHLD). {ECO:0000269|PubMed:8730290}.		cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|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)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.W117fs*40(1)|p.L118_G123>P(1)|p.W117fs*1(1)|p.?(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		ACCTTTGGCTCTTCAGAGATG	0.507		1	"""D, Mis, N, F, S"""		"""renal, hemangioma, pheochromocytoma"""	"""renal, hemangioma, pheochromocytoma"""			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																													uc003bvc.2		1	yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	D|Mis|N|F|S	von Hippel-Lindau syndrome gene			"""E, M, O"""		renal|hemangioma|pheochromocytoma	renal|hemangioma|pheochromocytoma		4	Deletion - Frameshift(2)|Unknown(1)|Complex - deletion inframe(1)	p.L118P(4)|p.W117fs*40(1)|p.L118fs*14(1)|p.L118H(1)|p.?(1)	kidney(4)	kidney(1273)|soft_tissue(24)|adrenal_gland(15)|large_intestine(13)|pancreas(5)|endometrium(4)|thyroid(3)|upper_aerodigestive_tract(3)|central_nervous_system(2)|lung(2)|pleura(1)|paratesticular_tissues(1)	1346						c.(352-354)CTC>CTT		von Hippel-Lindau tumor suppressor isoform 1							179.0	166.0	171.0					3																	10188211		2203	4300	6503	SO:0001819	synonymous_variant	7428	von_Hippel-Lindau_disease|Chuvash_Polycythemia_|Pheochromocytoma_(Adrenal)_Familial	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	anti-apoptosis|cell morphogenesis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cell differentiation|positive regulation of transcription, DNA-dependent|protein stabilization|protein ubiquitination|proteolysis	cytosol|endoplasmic reticulum|membrane|mitochondrion|nucleus	protein binding|transcription factor binding	g.chr3:10188211C>T	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"""von Hippel-Lindau syndrome"", ""von Hippel-Lindau tumor suppressor"""			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.354C>T	3.37:g.10188211C>T						VHL_uc003bvd.2_Intron	p.L118L	NM_000551	NP_000542	P40337	VHL_HUMAN		Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)	2	567	+			118		L -> R (in VHLD).	Involved in binding to CCT complex.		B2RE45|Q13599|Q6PDA9	Silent	SNP	ENST00000256474.2	37	c.354C>T	CCDS2597.1																																																																																				0.507	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1	NM_000551		58	146	0	0	0	0	58	146				
ATP2B2	491	broad.mit.edu	37	3	10392202	10392202	+	Silent	SNP	G	G	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr3:10392202G>A	ENST00000352432.4	-	14	2265	c.2196C>T	c.(2194-2196)ggC>ggT	p.G732G	ATP2B2_ENST00000360273.2_Silent_p.G732G|ATP2B2_ENST00000343816.4_Silent_p.G718G|ATP2B2_ENST00000383800.4_Silent_p.G687G|ATP2B2_ENST00000397077.1_Silent_p.G687G			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	732					auditory receptor cell stereocilium organization (GO:0060088)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cerebellar granule cell differentiation (GO:0021707)|cerebellar Purkinje cell differentiation (GO:0021702)|cGMP metabolic process (GO:0046068)|cochlea development (GO:0090102)|cytosolic calcium ion homeostasis (GO:0051480)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|locomotion (GO:0040011)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|neuron differentiation (GO:0030182)|organelle organization (GO:0006996)|otolith mineralization (GO:0045299)|positive regulation of calcium ion transport (GO:0051928)|regulation of cell size (GO:0008361)|regulation of synaptic plasticity (GO:0048167)|sensory perception of sound (GO:0007605)|serotonin metabolic process (GO:0042428)|synapse organization (GO:0050808)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cilium (GO:0005929)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-dependent ATPase activity (GO:0030899)|calcium-transporting ATPase activity (GO:0005388)|calmodulin binding (GO:0005516)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein C-terminus binding (GO:0008022)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						TGATATTGTCGCCAGTGACCA	0.632																																					Ovarian(125;1619 1709 15675 19819 38835)	uc003bvt.2		NA																	0				ovary(3)|skin(2)|central_nervous_system(1)	6						c.(2194-2196)GGC>GGT		plasma membrane calcium ATPase 2 isoform 1							107.0	94.0	98.0					3																	10392202		2203	4300	6503	SO:0001819	synonymous_variant	491				ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|ATP binding|calcium ion binding|calcium-transporting ATPase activity|calcium-transporting ATPase activity|calmodulin binding|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding	g.chr3:10392202G>A	X63575	CCDS2601.1, CCDS33701.1	3p25.3	2010-04-20	2001-12-04		ENSG00000157087	ENSG00000157087	3.6.3.8	"""ATPases / P-type"""	815	protein-coding gene	gene with protein product	"""plasma membrane Ca2+ pump 2"", ""plasma membrane calcium-transporting ATPase 2"""	108733				1313367	Standard	NM_001001331		Approved	PMCA2	uc003bvt.3	Q01814	OTTHUMG00000128679	ENST00000352432.4:c.2196C>T	3.37:g.10392202G>A						ATP2B2_uc003bvv.2_Silent_p.G687G|ATP2B2_uc003bvw.2_Silent_p.G687G|ATP2B2_uc010hdo.2_Silent_p.G437G	p.G732G	NM_001001331	NP_001001331	Q01814	AT2B2_HUMAN			15	2635	-			732			Cytoplasmic (Potential).		O00766|Q12994|Q16818	Silent	SNP	ENST00000352432.4	37	c.2196C>T	CCDS33701.1																																																																																				0.632	ATP2B2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250576.2	NM_001683		26	72	0	0	0	0	26	72				
IQSEC1	9922	broad.mit.edu	37	3	12983123	12983123	+	Nonsense_Mutation	SNP	G	G	C			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr3:12983123G>C	ENST00000273221.4	-	2	524	c.308C>G	c.(307-309)tCa>tGa	p.S103*	IQSEC1_ENST00000473088.1_5'UTR	NM_014869.5	NP_055684.3	Q6DN90	IQEC1_HUMAN	IQ motif and Sec7 domain 1	103					actin cytoskeleton organization (GO:0030036)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleolus (GO:0005730)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GAGTGAGCGTGAGCGCTTGAT	0.662																																						uc003bxt.2		NA																	0				ovary(1)	1						c.(307-309)TCA>TGA		IQ motif and Sec7 domain 1 isoform b							33.0	34.0	34.0					3																	12983123		2202	4300	6502	SO:0001587	stop_gained	9922				regulation of ARF protein signal transduction	cytoplasm|nucleus	ARF guanyl-nucleotide exchange factor activity	g.chr3:12983123G>C	BC010267	CCDS33703.1, CCDS74902.1	3p25.2	2011-09-23			ENSG00000144711	ENSG00000144711			29112	protein-coding gene	gene with protein product	"""brefeldin A-resistant ARF-GEF2"""	610166				9872452, 8619474	Standard	NM_001134382		Approved	KIAA0763, GEP100, BRAG2, ARF-GEP100	uc011auw.2	Q6DN90	OTTHUMG00000155398	ENST00000273221.4:c.308C>G	3.37:g.12983123G>C	ENSP00000273221:p.Ser103*					IQSEC1_uc003bxu.3_5'UTR|IQSEC1_uc011auw.1_Nonsense_Mutation_p.S89*	p.S103*	NM_014869	NP_055684	Q6DN90	IQEC1_HUMAN			2	317	-			103					O94863|Q96D85	Nonsense_Mutation	SNP	ENST00000273221.4	37	c.308C>G	CCDS33703.1	.	.	.	.	.	.	.	.	.	.	G	36	5.775886	0.96922	.	.	ENSG00000144711	ENST00000273221;ENST00000435445;ENST00000429247	.	.	.	4.18	4.18	0.49190	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	17.054	0.86527	0.0:0.0:1.0:0.0	.	.	.	.	X	103;89;89	.	ENSP00000273221:S103X	S	-	2	0	IQSEC1	12958123	1.000000	0.71417	0.927000	0.36925	0.846000	0.48090	7.567000	0.82357	2.312000	0.78011	0.655000	0.94253	TCA		0.662	IQSEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339865.2	NM_014869		5	22	0	0	0	0	5	22				
C3orf20	84077	broad.mit.edu	37	3	14769987	14769987	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr3:14769987G>A	ENST00000253697.3	+	12	2184	c.1732G>A	c.(1732-1734)Gaa>Aaa	p.E578K	C3orf20_ENST00000412910.1_Missense_Mutation_p.E456K|C3orf20_ENST00000435614.1_Missense_Mutation_p.E456K	NM_032137.4	NP_115513.4	Q8ND61	CC020_HUMAN	chromosome 3 open reading frame 20	578	Poly-Glu.					cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(13)|lung(11)|ovary(4)|skin(2)	40						GGAGGAGGAAGAATTTGTTCG	0.473																																						uc003byy.2		NA																	0				ovary(3)|skin(1)	4						c.(1732-1734)GAA>AAA		hypothetical protein LOC84077							83.0	83.0	83.0					3																	14769987		2203	4300	6503	SO:0001583	missense	84077					cytoplasm|integral to membrane		g.chr3:14769987G>A	AL136781	CCDS33706.1, CCDS54555.1	3p25.1	2011-01-25			ENSG00000131379	ENSG00000131379			25320	protein-coding gene	gene with protein product						11230166	Standard	NM_032137		Approved	DKFZP434N1817	uc003byy.3	Q8ND61	OTTHUMG00000155545	ENST00000253697.3:c.1732G>A	3.37:g.14769987G>A	ENSP00000253697:p.Glu578Lys					C3orf20_uc003byz.2_Missense_Mutation_p.E456K|C3orf20_uc003bza.2_Missense_Mutation_p.E456K|C3orf20_uc003bzb.1_Missense_Mutation_p.E79K	p.E578K	NM_032137	NP_115513	Q8ND61	CC020_HUMAN			12	2136	+			578			Poly-Glu.		Q7L0U6|Q8NCP2|Q9H0I7	Missense_Mutation	SNP	ENST00000253697.3	37	c.1732G>A	CCDS33706.1	.	.	.	.	.	.	.	.	.	.	G	15.13	2.742995	0.49151	.	.	ENSG00000131379	ENST00000253697;ENST00000435614;ENST00000412910	T;T;T	0.11277	3.08;2.79;2.79	3.3	2.41	0.29592	.	0.443923	0.19002	N	0.125336	T	0.26702	0.0653	M	0.72479	2.2	0.09310	N	1	D;D	0.67145	0.996;0.996	D;D	0.77557	0.99;0.99	T	0.02104	-1.1213	10	0.41790	T	0.15	-4.227	8.6139	0.33820	0.0:0.2354:0.7646:0.0	.	456;578	Q8ND61-2;Q8ND61	.;CC020_HUMAN	K	578;456;456	ENSP00000253697:E578K;ENSP00000402933:E456K;ENSP00000396081:E456K	ENSP00000253697:E578K	E	+	1	0	C3orf20	14744991	0.111000	0.22076	0.006000	0.13384	0.039000	0.13416	1.310000	0.33551	0.955000	0.37878	0.460000	0.39030	GAA		0.473	C3orf20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340586.1	NM_032137		23	94	0	0	0	0	23	94				
COLQ	8292	broad.mit.edu	37	3	15512102	15512102	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr3:15512102C>T	ENST00000383788.5	-	11	783	c.658G>A	c.(658-660)Gaa>Aaa	p.E220K	COLQ_ENST00000383785.2_Missense_Mutation_p.E220K|COLQ_ENST00000383781.4_Missense_Mutation_p.E210K|COLQ_ENST00000603808.1_Missense_Mutation_p.E220K|COLQ_ENST00000435459.2_Missense_Mutation_p.E210K|COLQ_ENST00000383786.5_Missense_Mutation_p.E186K|COLQ_ENST00000383787.2_Missense_Mutation_p.E211K	NM_005677.3	NP_005668.2	Q9Y215	COLQ_HUMAN	collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase	220	Collagen-like 1.				acetylcholine catabolic process in synaptic cleft (GO:0001507)|asymmetric protein localization (GO:0008105)	basal lamina (GO:0005605)|cell junction (GO:0030054)|collagen trimer (GO:0005581)|extracellular space (GO:0005615)|synapse (GO:0045202)				endometrium(2)|large_intestine(4)|lung(10)|skin(3)	19						ATCCCAGGTTCACCTTTTGGA	0.537																																						uc003bzx.2		NA																	0					0						c.(658-660)GAA>AAA		acetylcholinesterase collagen-like tail subunit							287.0	215.0	240.0					3																	15512102		2203	4300	6503	SO:0001583	missense	8292				acetylcholine catabolic process in synaptic cleft|asymmetric protein localization	basal lamina|cell junction|collagen|extracellular space|synaptic cleft		g.chr3:15512102C>T	AF057036	CCDS33709.1, CCDS43057.1, CCDS46768.1	3p	2008-07-18			ENSG00000206561	ENSG00000206561			2226	protein-coding gene	gene with protein product	"""single strand of homotrimeric collagen-like tail subunit of asymmetric acetylcholinesterase"", ""collagenic tail of endplate acetylcholinesterase"", ""AChE Q subunit"", ""acetylcholinesterase-associated collagen"""	603033				9689136	Standard	NM_005677		Approved	EAD	uc003bzx.3	Q9Y215	OTTHUMG00000156233	ENST00000383788.5:c.658G>A	3.37:g.15512102C>T	ENSP00000373298:p.Glu220Lys					COLQ_uc003bzv.2_Missense_Mutation_p.E210K|COLQ_uc003bzz.2_Missense_Mutation_p.E211K|COLQ_uc010heo.2_Missense_Mutation_p.E186K|COLQ_uc003cac.1_RNA|COLQ_uc003cae.1_Missense_Mutation_p.E79K|COLQ_uc003cad.1_RNA	p.E220K	NM_005677	NP_005668	Q9Y215	COLQ_HUMAN			11	784	-			220			Collagen-like 1.		B3KY09|Q6DK18|Q6YH18|Q6YH19|Q6YH20|Q6YH21|Q9NP18|Q9NP19|Q9NP20|Q9NP21|Q9NP22|Q9NP23|Q9NP24|Q9UP88	Missense_Mutation	SNP	ENST00000383788.5	37	c.658G>A	CCDS33709.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.342582	0.82022	.	.	ENSG00000206561	ENST00000383787;ENST00000383781;ENST00000435459;ENST00000383785;ENST00000383788;ENST00000420589;ENST00000454772;ENST00000383786;ENST00000430319	D;D;D;D;D;D	0.94138	-3.19;-3.36;-2.43;-3.19;-3.36;-3.19	6.04	6.04	0.98038	.	0.045934	0.85682	D	0.000000	D	0.95439	0.8519	L	0.60957	1.885	0.58432	D	0.999998	D;D;D;D	0.76494	0.978;0.999;0.991;0.978	P;D;P;P	0.83275	0.712;0.996;0.81;0.805	D	0.93408	0.6766	10	0.26408	T	0.33	-25.6627	15.056	0.71915	0.0:0.8586:0.1414:0.0	.	186;211;220;210	Q9Y215-3;Q9Y215-5;Q9Y215;Q9Y215-2	.;.;COLQ_HUMAN;.	K	211;210;210;220;220;210;220;186;163	ENSP00000373297:E211K;ENSP00000373291:E210K;ENSP00000402511:E210K;ENSP00000373295:E220K;ENSP00000373298:E220K;ENSP00000373296:E186K	ENSP00000373291:E210K	E	-	1	0	COLQ	15487106	1.000000	0.71417	0.985000	0.45067	0.982000	0.71751	4.578000	0.60929	2.873000	0.98535	0.561000	0.74099	GAA		0.537	COLQ-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000343575.1	NM_005677		63	194	0	0	0	0	63	194				
BTD	686	broad.mit.edu	37	3	15686312	15686312	+	Silent	SNP	C	C	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr3:15686312C>T	ENST00000303498.5	+	4	1058	c.949C>T	c.(949-951)Ctg>Ttg	p.L317L	BTD_ENST00000437172.1_Silent_p.L319L|BTD_ENST00000449107.1_Silent_p.L319L|BTD_ENST00000383778.4_Silent_p.L297L	NM_000060.2|NM_001281723.1	NP_000051.1|NP_001268652.1	P43251	BTD_HUMAN	biotinidase	317	CN hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00054}.				biotin metabolic process (GO:0006768)|central nervous system development (GO:0007417)|epidermis development (GO:0008544)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical part of cell (GO:0045177)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|nucleolus (GO:0005730)|perikaryon (GO:0043204)	biotin carboxylase activity (GO:0004075)|biotinidase activity (GO:0047708)			breast(2)|endometrium(3)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	18						ACACACCCCTCTGGAGTCCTT	0.488																																						uc003cah.2		NA																	0					0						c.(949-951)CTG>TTG		biotinidase precursor							70.0	67.0	68.0					3																	15686312		2203	4300	6503	SO:0001819	synonymous_variant	686				central nervous system development|epidermis development|nitrogen compound metabolic process	extracellular space	biotin carboxylase activity|biotinidase activity	g.chr3:15686312C>T	AF018631	CCDS2628.1, CCDS63563.1, CCDS63564.1, CCDS63565.1	3p25	2007-03-26			ENSG00000169814	ENSG00000169814	3.5.1.12		1122	protein-coding gene	gene with protein product		609019				8001986	Standard	NM_001281723		Approved		uc003cah.3	P43251	OTTHUMG00000129861	ENST00000303498.5:c.949C>T	3.37:g.15686312C>T						BTD_uc011avv.1_Silent_p.L319L|BTD_uc011avw.1_Silent_p.L319L|BTD_uc011avx.1_Silent_p.L297L	p.L317L	NM_000060	NP_000051	P43251	BTD_HUMAN			4	1052	+			317			CN hydrolase.		A6NHF2|B2R865|B4DFX1|B4DLJ9|B7Z7C9|F8W1Q3|Q96EM9	Silent	SNP	ENST00000303498.5	37	c.949C>T	CCDS2628.1																																																																																				0.488	BTD-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252103.2	NM_000060		27	89	0	0	0	0	27	89				
CRTAP	10491	broad.mit.edu	37	3	33155701	33155701	+	Silent	SNP	C	C	T	rs387907333|rs114946269		TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr3:33155701C>T	ENST00000320954.6	+	1	231	c.132C>T	c.(130-132)ctC>ctT	p.L44L	CRTAP_ENST00000449224.1_Silent_p.L44L	NM_006371.4	NP_006362.1	O75718	CRTAP_HUMAN	cartilage associated protein	44					chaperone-mediated protein folding (GO:0061077)|extracellular matrix organization (GO:0030198)|negative regulation of post-translational protein modification (GO:1901874)|peptidyl-proline hydroxylation to 3-hydroxy-L-proline (GO:0018400)|protein stabilization (GO:0050821)|spermatogenesis (GO:0007283)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular space (GO:0005615)|macromolecular complex (GO:0032991)|proteinaceous extracellular matrix (GO:0005578)	protein complex binding (GO:0032403)			breast(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	9						TGATGCCGCTCGAGTCGGCCT	0.697																																						uc003cfl.3		NA																	0					0						c.(130-132)CTC>CTT		cartilage associated protein precursor							10.0	9.0	9.0					3																	33155701		2011	3984	5995	SO:0001819	synonymous_variant	10491					proteinaceous extracellular matrix	binding	g.chr3:33155701C>T	AJ006470	CCDS2657.1	3p22	2014-09-17			ENSG00000170275	ENSG00000170275			2379	protein-coding gene	gene with protein product	"""leprecan-like 3"""	605497				9217321, 10429950	Standard	NM_006371		Approved	CASP, LEPREL3	uc003cfl.4	O75718	OTTHUMG00000130746	ENST00000320954.6:c.132C>T	3.37:g.33155701C>T						CRTAP_uc010hfz.2_Silent_p.L44L|CRTAP_uc003cfm.2_5'UTR|CRTAP_uc003cfn.2_5'UTR	p.L44L	NM_006371	NP_006362	O75718	CRTAP_HUMAN			1	252	+			44					B2RBL6	Silent	SNP	ENST00000320954.6	37	c.132C>T	CCDS2657.1																																																																																				0.697	CRTAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253246.3			6	22	0	0	0	0	6	22				
ARPP21	10777	broad.mit.edu	37	3	35778790	35778790	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr3:35778790C>A	ENST00000187397.4	+	16	2036	c.1580C>A	c.(1579-1581)tCc>tAc	p.S527Y	ARPP21_ENST00000444190.1_Missense_Mutation_p.S473Y|ARPP21_ENST00000417925.1_Missense_Mutation_p.S493Y|ARPP21_ENST00000337271.5_Missense_Mutation_p.S473Y|ARPP21_ENST00000458225.1_Missense_Mutation_p.S493Y	NM_016300.4	NP_057384.2	Q9UBL0	ARP21_HUMAN	cAMP-regulated phosphoprotein, 21kDa	527	Gln-rich.				cellular response to heat (GO:0034605)	cytoplasm (GO:0005737)	nucleic acid binding (GO:0003676)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						CAGCAGCCCTCCCCGCAGCCC	0.642																																						uc003cgb.2		NA																	0				ovary(2)|skin(1)	3						c.(1579-1581)TCC>TAC		cyclic AMP-regulated phosphoprotein, 21 kD							32.0	37.0	35.0					3																	35778790		2202	4296	6498	SO:0001583	missense	10777					cytoplasm	nucleic acid binding	g.chr3:35778790C>A	AA733082	CCDS2661.1, CCDS43063.1, CCDS58823.1, CCDS58824.1	3p24.3	2010-08-12			ENSG00000172995	ENSG00000172995			16968	protein-coding gene	gene with protein product	"""R3H domain containing 3"""	605488				8120638	Standard	NM_198399		Approved	ARPP-21, TARPP, R3HDM3	uc011axy.2	Q9UBL0	OTTHUMG00000130795	ENST00000187397.4:c.1580C>A	3.37:g.35778790C>A	ENSP00000187397:p.Ser527Tyr					ARPP21_uc003cga.2_Missense_Mutation_p.S473Y|ARPP21_uc011axy.1_Missense_Mutation_p.S493Y|ARPP21_uc003cgf.2_Missense_Mutation_p.S328Y|ARPP21_uc003cgg.2_Missense_Mutation_p.S15Y	p.S527Y	NM_016300	NP_057384	Q9UBL0	ARP21_HUMAN			16	1844	+			527			Gln-rich.		B4DG96|Q49AK3|Q49AS6|Q4G0V4|Q6NYC3|Q86V31|Q9UF93	Missense_Mutation	SNP	ENST00000187397.4	37	c.1580C>A	CCDS2661.1	.	.	.	.	.	.	.	.	.	.	C	14.26	2.482973	0.44147	.	.	ENSG00000172995	ENST00000458225;ENST00000337271;ENST00000444190;ENST00000187397;ENST00000417925	T;T;T;T;T	0.40756	1.09;1.09;1.09;1.02;1.09	5.65	4.77	0.60923	.	0.188302	0.38436	N	0.001693	T	0.39835	0.1093	L	0.44542	1.39	0.30737	N	0.746552	P;P;P;P	0.47677	0.797;0.899;0.814;0.797	B;P;B;B	0.45138	0.349;0.471;0.406;0.349	T	0.41752	-0.9491	10	0.35671	T	0.21	-3.9121	13.9972	0.64409	0.0:0.9278:0.0:0.0722	.	493;15;527;473	Q9UBL0-3;Q9UBL0-5;Q9UBL0;Q9UBL0-4	.;.;ARP21_HUMAN;.	Y	493;473;473;527;493	ENSP00000414351:S493Y;ENSP00000337792:S473Y;ENSP00000405276:S473Y;ENSP00000187397:S527Y;ENSP00000412326:S493Y	ENSP00000187397:S527Y	S	+	2	0	ARPP21	35753794	0.894000	0.30519	0.753000	0.31225	0.466000	0.32739	3.655000	0.54460	2.659000	0.90383	0.655000	0.94253	TCC		0.642	ARPP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253334.2	NM_198399		21	41	1	0	5.45e-15	5.83e-15	21	41				
OXSR1	9943	broad.mit.edu	37	3	38266073	38266073	+	Silent	SNP	G	G	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr3:38266073G>A	ENST00000446845.1	+	8	1086	c.714G>A	c.(712-714)ctG>ctA	p.L238L	OXSR1_ENST00000311806.3_Silent_p.L238L					oxidative stress responsive 1											skin(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		TTTTAATGCTGACACTGCAGA	0.343																																						uc003chy.2		NA																	0				skin(1)	1						c.(712-714)CTG>CTA		oxidative-stress responsive 1							56.0	60.0	59.0					3																	38266073		2200	4297	6497	SO:0001819	synonymous_variant	9943				intracellular protein kinase cascade|response to oxidative stress		ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr3:38266073G>A	AB017642	CCDS2675.1	3p22.2	2013-05-17	2013-05-17	2004-11-26	ENSG00000172939	ENSG00000172939			8508	protein-coding gene	gene with protein product		604046	"""oxidative-stress responsive 1"""	OSR1		10083736	Standard	XM_005265638		Approved	KIAA1101	uc003chy.3	O95747	OTTHUMG00000131084	ENST00000446845.1:c.714G>A	3.37:g.38266073G>A						OXSR1_uc010hhb.2_Silent_p.L172L|OXSR1_uc010hha.1_Silent_p.L170L	p.L238L	NM_005109	NP_005100	O95747	OXSR1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)	8	1056	+			238			Protein kinase.			Silent	SNP	ENST00000446845.1	37	c.714G>A																																																																																					0.343	OXSR1-004	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000342708.1	NM_005109		6	80	0	0	0	0	6	80				
XIRP1	165904	broad.mit.edu	37	3	39226071	39226071	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr3:39226071C>G	ENST00000340369.3	-	2	5094	c.4866G>C	c.(4864-4866)caG>caC	p.Q1622H	XIRP1_ENST00000396251.1_3'UTR|XIRP1_ENST00000421646.1_Missense_Mutation_p.Q305H	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	1622					cardiac muscle cell development (GO:0055013)|negative regulation of cell proliferation (GO:0008285)|regulation of membrane potential (GO:0042391)|sarcomere organization (GO:0045214)	fascia adherens (GO:0005916)	poly(A) RNA binding (GO:0044822)			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		TGACTTGACTCTGGGCCTCAG	0.562																																						uc003cjk.1		NA																	0				ovary(4)|breast(2)|central_nervous_system(1)|pancreas(1)	8						c.(4864-4866)CAG>CAC		xin actin-binding repeat containing 1							168.0	152.0	157.0					3																	39226071		2203	4300	6503	SO:0001583	missense	165904						actin binding	g.chr3:39226071C>G	AW755250	CCDS2683.1, CCDS56245.1	3p21.33	2008-02-05	2007-06-27	2007-06-27	ENSG00000168334	ENSG00000168334			14301	protein-coding gene	gene with protein product		609777	"""cardiomyopathy associated 1"""	CMYA1		12203715, 15454575	Standard	NM_001198621		Approved	DKFZp451D042, Xin	uc003cjk.2	Q702N8	OTTHUMG00000131297	ENST00000340369.3:c.4866G>C	3.37:g.39226071C>G	ENSP00000343140:p.Gln1622His					XIRP1_uc003cji.2_3'UTR|XIRP1_uc003cjj.2_Missense_Mutation_p.Q305H	p.Q1622H	NM_194293	NP_919269	Q702N8	XIRP1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)	2	5087	-			1622					A0JP25|A4QPE2|Q68DF2|Q6ZTR3|Q702N9|Q8IVN7|Q8N1N3|Q8N904|Q8TCG7	Missense_Mutation	SNP	ENST00000340369.3	37	c.4866G>C	CCDS2683.1	.	.	.	.	.	.	.	.	.	.	C	1.133	-0.651949	0.03506	.	.	ENSG00000168334	ENST00000340369;ENST00000421646	T;T	0.20069	3.84;2.1	4.18	-1.94	0.07571	.	.	.	.	.	T	0.11707	0.0285	N	0.21448	0.665	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.29336	-1.0015	9	0.44086	T	0.13	.	5.5561	0.17117	0.1389:0.2178:0.5485:0.0948	.	1622	Q702N8	XIRP1_HUMAN	H	1622;305	ENSP00000343140:Q1622H;ENSP00000391645:Q305H	ENSP00000343140:Q1622H	Q	-	3	2	XIRP1	39201075	0.002000	0.14202	0.001000	0.08648	0.002000	0.02628	0.033000	0.13754	-0.155000	0.11098	-0.150000	0.13652	CAG		0.562	XIRP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254065.1	XM_093522		54	161	0	0	0	0	54	161				
ZKSCAN7	55888	broad.mit.edu	37	3	44612228	44612228	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr3:44612228G>C	ENST00000273320.3	+	6	2055	c.1626G>C	c.(1624-1626)caG>caC	p.Q542H	ZKSCAN7_ENST00000341840.3_Intron|ZKSCAN7_ENST00000426540.1_Missense_Mutation_p.Q542H|RP11-944L7.4_ENST00000457331.1_RNA|ZKSCAN7_ENST00000431636.1_Intron|RP11-944L7.5_ENST00000419137.1_Intron	NM_018651.2	NP_061121.2	Q9P0L1	ZKSC7_HUMAN	zinc finger with KRAB and SCAN domains 7	542					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)										TTGACCATCAGAGAATCCACA	0.463																																						uc010hin.2		NA																	0				ovary(2)	2						c.(1624-1626)CAG>CAC		zinc finger protein 167 isoform 1							112.0	115.0	114.0					3																	44612228		2203	4300	6503	SO:0001583	missense	55888				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:44612228G>C	L32164, AY280798	CCDS2714.1, CCDS2715.1, CCDS74924.1	3p21.32	2013-01-09	2013-01-09	2013-01-09	ENSG00000196345	ENSG00000196345		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	12955	protein-coding gene	gene with protein product			"""zinc finger protein 64"", ""zinc finger protein 448"", ""zinc finger protein 167"""	ZNF64, ZNF448, ZNF167		7814019, 1505991	Standard	XM_005265323		Approved	FLJ12738, ZSCAN39	uc003cnj.3	Q9P0L1	OTTHUMG00000133094	ENST00000273320.3:c.1626G>C	3.37:g.44612228G>C	ENSP00000273320:p.Gln542His					ZNF167_uc003cni.2_Intron|ZNF167_uc010hio.2_Intron|ZNF167_uc003cnj.2_Missense_Mutation_p.Q542H|ZNF167_uc003cnk.2_Intron	p.Q542H	NM_018651	NP_061121	Q9P0L1	ZN167_HUMAN		KIRC - Kidney renal clear cell carcinoma(197;0.0486)|Kidney(197;0.0609)	6	2014	+			542			C2H2-type 6.		A0PJV3|A8K5H0|Q6WL09|Q96FQ2	Missense_Mutation	SNP	ENST00000273320.3	37	c.1626G>C	CCDS2715.1	.	.	.	.	.	.	.	.	.	.	.	14.87	2.664991	0.47572	.	.	ENSG00000196345	ENST00000426540;ENST00000273320	T;T	0.07567	3.18;3.18	4.36	2.57	0.30868	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.366044	0.16384	N	0.216799	T	0.15869	0.0382	L	0.58302	1.8	0.80722	D	1	D	0.64830	0.994	P	0.57548	0.823	T	0.02450	-1.1157	10	0.48119	T	0.1	-10.4507	5.4471	0.16541	0.1849:0.1659:0.6492:0.0	.	542	Q9P0L1	ZN167_HUMAN	H	542	ENSP00000395524:Q542H;ENSP00000273320:Q542H	ENSP00000273320:Q542H	Q	+	3	2	ZNF167	44587232	0.873000	0.30073	1.000000	0.80357	0.992000	0.81027	1.599000	0.36751	0.493000	0.27837	0.655000	0.94253	CAG		0.463	ZKSCAN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256752.4	NM_018651		48	123	0	0	0	0	48	123				
COL7A1	1294	broad.mit.edu	37	3	48625737	48625737	+	Silent	SNP	G	G	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr3:48625737G>A	ENST00000328333.8	-	20	2795	c.2688C>T	c.(2686-2688)ttC>ttT	p.F896F	COL7A1_ENST00000454817.1_Silent_p.F896F	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	896	Fibronectin type-III 8. {ECO:0000255|PROSITE-ProRule:PRU00316}.|Nonhelical region (NC1).				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|collagen type VII trimer (GO:0005590)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		AGTGCAGAAGGAAGCCCTGCG	0.682																																						uc003ctz.2		NA																	0				ovary(4)|breast(3)|skin(3)|central_nervous_system(1)	11						c.(2686-2688)TTC>TTT		alpha 1 type VII collagen precursor							31.0	34.0	33.0					3																	48625737		2203	4299	6502	SO:0001819	synonymous_variant	1294				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity	g.chr3:48625737G>A	L02870	CCDS2773.1	3p21.1	2014-09-17	2008-08-01		ENSG00000114270	ENSG00000114270		"""Collagens"", ""Fibronectin type III domain containing"""	2214	protein-coding gene	gene with protein product	"""collagen VII, alpha-1 polypeptide"", ""LC collagen"""	120120	"""epidermolysis bullosa, dystrophic, dominant and recessive"""	EBDCT, EBD1, EBR1		1871109	Standard	NM_000094		Approved		uc003ctz.2	Q02388	OTTHUMG00000133541	ENST00000328333.8:c.2688C>T	3.37:g.48625737G>A							p.F896F	NM_000094	NP_000085	Q02388	CO7A1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)	20	2689	-			896			Fibronectin type-III 8.|Nonhelical region (NC1).		Q14054|Q16507	Silent	SNP	ENST00000328333.8	37	c.2688C>T	CCDS2773.1																																																																																				0.682	COL7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257519.1	NM_000094		17	42	0	0	0	0	17	42				
COL7A1	1294	broad.mit.edu	37	3	48626388	48626388	+	Silent	SNP	G	G	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr3:48626388G>A	ENST00000328333.8	-	18	2462	c.2355C>T	c.(2353-2355)ctC>ctT	p.L785L	COL7A1_ENST00000454817.1_Silent_p.L785L	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	785	Fibronectin type-III 7. {ECO:0000255|PROSITE-ProRule:PRU00316}.|Nonhelical region (NC1).				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|collagen type VII trimer (GO:0005590)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		TGGAAGCATTGAGGATCTGCA	0.607																																						uc003ctz.2		NA																	0				ovary(4)|breast(3)|skin(3)|central_nervous_system(1)	11						c.(2353-2355)CTC>CTT		alpha 1 type VII collagen precursor							82.0	77.0	79.0					3																	48626388		2203	4300	6503	SO:0001819	synonymous_variant	1294				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity	g.chr3:48626388G>A	L02870	CCDS2773.1	3p21.1	2014-09-17	2008-08-01		ENSG00000114270	ENSG00000114270		"""Collagens"", ""Fibronectin type III domain containing"""	2214	protein-coding gene	gene with protein product	"""collagen VII, alpha-1 polypeptide"", ""LC collagen"""	120120	"""epidermolysis bullosa, dystrophic, dominant and recessive"""	EBDCT, EBD1, EBR1		1871109	Standard	NM_000094		Approved		uc003ctz.2	Q02388	OTTHUMG00000133541	ENST00000328333.8:c.2355C>T	3.37:g.48626388G>A							p.L785L	NM_000094	NP_000085	Q02388	CO7A1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)	18	2356	-			785			Nonhelical region (NC1).|Fibronectin type-III 7.		Q14054|Q16507	Silent	SNP	ENST00000328333.8	37	c.2355C>T	CCDS2773.1																																																																																				0.607	COL7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257519.1	NM_000094		30	92	0	0	0	0	30	92				
BSN	8927	broad.mit.edu	37	3	49692476	49692476	+	Silent	SNP	C	C	G			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr3:49692476C>G	ENST00000296452.4	+	5	5601	c.5487C>G	c.(5485-5487)ctC>ctG	p.L1829L		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	1829					synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuron projection terminus (GO:0044306)|nucleus (GO:0005634)|presynaptic cytoskeletal matrix assembled at active zones (GO:0048788)	metal ion binding (GO:0046872)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		GCATTGGCCTCAAGCCAGGCC	0.612																																						uc003cxe.3		NA																	0				ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1)	8						c.(5485-5487)CTC>CTG		bassoon protein							50.0	55.0	53.0					3																	49692476		2203	4300	6503	SO:0001819	synonymous_variant	8927				synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding	g.chr3:49692476C>G	AF052224	CCDS2800.1	3p21	2013-01-07	2013-01-07		ENSG00000164061	ENSG00000164061			1117	protein-coding gene	gene with protein product	"""zinc finger protein 231"", ""neuronal double zinc finger protein"""	604020	"""bassoon (presynaptic cytomatrix protein)"""	ZNF231		9806829, 10329005	Standard	NM_003458		Approved		uc003cxe.4	Q9UPA5	OTTHUMG00000133750	ENST00000296452.4:c.5487C>G	3.37:g.49692476C>G							p.L1829L	NM_003458	NP_003449	Q9UPA5	BSN_HUMAN		BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)	5	5601	+			1829					O43161|Q7LGH3	Silent	SNP	ENST00000296452.4	37	c.5487C>G	CCDS2800.1																																																																																				0.612	BSN-001	KNOWN	NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000258164.1	NM_003458		6	96	0	0	0	0	6	96				
MST1R	4486	broad.mit.edu	37	3	49936568	49936568	+	Silent	SNP	C	C	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr3:49936568C>T	ENST00000296474.3	-	2	1386	c.1359G>A	c.(1357-1359)gtG>gtA	p.V453V	MST1R_ENST00000344206.4_Silent_p.V453V|CTD-2330K9.2_ENST00000435478.1_RNA	NM_002447.2	NP_002438	Q04912	RON_HUMAN	macrophage stimulating 1 receptor (c-met-related tyrosine kinase)	453	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				cellular component movement (GO:0006928)|defense response (GO:0006952)|innate immune response (GO:0045087)|macrophage colony-stimulating factor signaling pathway (GO:0038145)|multicellular organismal development (GO:0007275)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|response to virus (GO:0009615)|signal transduction (GO:0007165)|single fertilization (GO:0007338)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|macrophage colony-stimulating factor receptor activity (GO:0005011)			cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37				BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		CAAGGCGTGTCACATACAATG	0.577																																						uc003cxy.3		NA																	0				ovary(5)|lung(1)	6						c.(1357-1359)GTG>GTA		macrophage stimulating 1 receptor precursor							223.0	188.0	200.0					3																	49936568		2203	4300	6503	SO:0001819	synonymous_variant	4486				cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|macrophage colony-stimulating factor receptor activity|protein binding	g.chr3:49936568C>T	X70040	CCDS2807.1, CCDS58833.1	3p21	2008-08-18			ENSG00000164078	ENSG00000164078		"""CD molecules"""	7381	protein-coding gene	gene with protein product		600168	"""PTK8 protein tyrosine kinase 8"""	RON, PTK8		8386824	Standard	NM_002447		Approved	CDw136, CD136	uc003cxy.4	Q04912	OTTHUMG00000156709	ENST00000296474.3:c.1359G>A	3.37:g.49936568C>T						MST1R_uc011bdd.1_Silent_p.V453V|MST1R_uc011bde.1_Silent_p.V453V|MST1R_uc011bdf.1_Intron|MST1R_uc011bdg.1_Silent_p.V453V|MST1R_uc011bdc.1_5'Flank	p.V453V	NM_002447	NP_002438	Q04912	RON_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)	2	1623	-			453			Extracellular (Potential).|Sema.		B5A944|B5A945|B5A946|B5A947	Silent	SNP	ENST00000296474.3	37	c.1359G>A	CCDS2807.1																																																																																				0.577	MST1R-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000345403.1			43	97	0	0	0	0	43	97				
NT5DC2	64943	broad.mit.edu	37	3	52559068	52559068	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr3:52559068C>G	ENST00000307076.4	-	12	1547	c.1147G>C	c.(1147-1149)Gag>Cag	p.E383Q	NT5DC2_ENST00000307092.4_Missense_Mutation_p.E324Q|NT5DC2_ENST00000459839.1_Missense_Mutation_p.E395Q|NT5DC2_ENST00000422318.2_Missense_Mutation_p.E420Q	NM_022908.2	NP_075059.1	Q9H857	NT5D2_HUMAN	5'-nucleotidase domain containing 2	383							hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			endometrium(1)|lung(3)|prostate(1)|stomach(1)	6				BRCA - Breast invasive adenocarcinoma(193;1.7e-05)|Kidney(197;0.00177)|KIRC - Kidney renal clear cell carcinoma(197;0.002)|OV - Ovarian serous cystadenocarcinoma(275;0.0476)		ATCTCACGCTCCAGCTCGGGG	0.682																																						uc003deo.2		NA																	0					0						c.(1147-1149)GAG>CAG		5'-nucleotidase domain containing 2 isoform 2																																				SO:0001583	missense	64943						hydrolase activity|metal ion binding	g.chr3:52559068C>G	AF131781	CCDS2858.1, CCDS46843.1	3p21.1	2006-02-03			ENSG00000168268	ENSG00000168268			25717	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_022908		Approved	FLJ12442	uc003den.3	Q9H857	OTTHUMG00000158626	ENST00000307076.4:c.1147G>C	3.37:g.52559068C>G	ENSP00000302468:p.Glu383Gln					NT5DC2_uc003dem.2_Missense_Mutation_p.E253Q|NT5DC2_uc003den.2_Missense_Mutation_p.E420Q|NT5DC2_uc010hmi.2_Missense_Mutation_p.E395Q|NT5DC2_uc010hmj.2_Missense_Mutation_p.E199Q	p.E383Q	NM_022908	NP_075059	Q9H857	NT5D2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.7e-05)|Kidney(197;0.00177)|KIRC - Kidney renal clear cell carcinoma(197;0.002)|OV - Ovarian serous cystadenocarcinoma(275;0.0476)	12	1571	-			383					C9JTZ6|E9PAL9|O95888|Q96C80|Q9H9Z8	Missense_Mutation	SNP	ENST00000307076.4	37	c.1147G>C	CCDS2858.1	.	.	.	.	.	.	.	.	.	.	C	32	5.146887	0.94603	.	.	ENSG00000168268	ENST00000307092;ENST00000463947;ENST00000307076;ENST00000422318;ENST00000459839	T;T;T;T;T	0.25085	1.82;1.82;1.82;1.82;1.82	5.12	5.12	0.69794	HAD-like domain (1);	0.000000	0.85682	D	0.000000	T	0.50939	0.1645	M	0.73962	2.25	0.80722	D	1	D;P;P	0.59357	0.985;0.629;0.792	D;P;P	0.69142	0.962;0.542;0.542	T	0.43909	-0.9362	10	0.27785	T	0.31	-33.8695	18.5398	0.91023	0.0:1.0:0.0:0.0	.	395;383;420	C9JTZ6;Q9H857;E9PAL9	.;NT5D2_HUMAN;.	Q	324;97;383;420;395	ENSP00000306017:E324Q;ENSP00000418780:E97Q;ENSP00000302468:E383Q;ENSP00000406933:E420Q;ENSP00000419547:E395Q	ENSP00000302468:E383Q	E	-	1	0	NT5DC2	52534108	1.000000	0.71417	1.000000	0.80357	0.725000	0.41563	3.184000	0.50926	2.379000	0.81126	0.491000	0.48974	GAG		0.682	NT5DC2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000351509.1	NM_022908		3	14	0	0	0	0	3	14				
ERC2	26059	broad.mit.edu	37	3	55717821	55717821	+	Splice_Site	SNP	C	C	G			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr3:55717821C>G	ENST00000288221.6	-	17	3169		c.e17+1			NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN	ELKS/RAB6-interacting/CAST family member 2							cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|growth cone (GO:0030426)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)				breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		TGGTTTCTCACCCCTCAAAAC	0.478																																						uc003dhr.1		NA																	0				ovary(2)	2						c.e17+1		cytomatrix protein p110							46.0	48.0	47.0					3																	55717821		1851	4114	5965	SO:0001630	splice_region_variant	26059					cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding	g.chr3:55717821C>G	AB002376	CCDS46851.1	3p14.3	2006-08-14			ENSG00000187672	ENSG00000187672			31922	protein-coding gene	gene with protein product							Standard	NM_015576		Approved	CAST, CAST1, KIAA0378, SPBC110, Spc110, ELKSL	uc003dhr.1	O15083	OTTHUMG00000158390	ENST00000288221.6:c.2871+1G>C	3.37:g.55717821C>G						ERC2_uc003dhq.1_Splice_Site		NM_015576	NP_056391	O15083	ERC2_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)	17	3169	-								Q2T9F6|Q86TK4	Splice_Site	SNP	ENST00000288221.6	37	c.2913_splice	CCDS46851.1																																																																																				0.478	ERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350884.2	NM_015576	Intron	4	63	0	0	0	0	4	63				
ATXN7	6314	broad.mit.edu	37	3	63973786	63973786	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr3:63973786G>C	ENST00000295900.6	+	9	1697	c.1147G>C	c.(1147-1149)Gat>Cat	p.D383H	ATXN7_ENST00000538065.1_Missense_Mutation_p.D383H|ATXN7_ENST00000398590.3_Missense_Mutation_p.D383H|ATXN7_ENST00000484332.1_Missense_Mutation_p.D238H|ATXN7_ENST00000487717.1_Missense_Mutation_p.D383H	NM_000333.3	NP_000324.1	O15265	ATX7_HUMAN	ataxin 7	383	SCA7. {ECO:0000255|PROSITE- ProRule:PRU00838}.				cell death (GO:0008219)|chromatin organization (GO:0006325)|histone deubiquitination (GO:0016578)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of phosphorylation (GO:0042326)|nucleus organization (GO:0006997)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	chromatin binding (GO:0003682)			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|stomach(1)|urinary_tract(3)	35		Prostate(884;0.0181)		BRCA - Breast invasive adenocarcinoma(55;0.000614)|KIRC - Kidney renal clear cell carcinoma(15;0.00294)|Kidney(15;0.00305)		AAAACGATTTGATGTGTTATT	0.458																																						uc003dlw.3		NA																	0					0						c.(1147-1149)GAT>CAT		ataxin 7 isoform a							148.0	155.0	153.0					3																	63973786		1924	4121	6045	SO:0001583	missense	6314				cell death|histone deubiquitination|nucleus organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nuclear matrix|nucleolus	protein binding|zinc ion binding	g.chr3:63973786G>C	AJ000517	CCDS43102.1, CCDS46861.1, CCDS46861.2, CCDS54603.1	3p21.1-p12	2014-09-17	2004-08-12	2004-08-12	ENSG00000163635	ENSG00000163635		"""Ataxins"""	10560	protein-coding gene	gene with protein product		607640	"""spinocerebellar ataxia 7 (olivopontocerebellar atrophy with retinal degeneration)"""	SCA7		7647798, 10598805	Standard	NM_000333		Approved	OPCA3, ADCAII	uc021wzy.1	O15265	OTTHUMG00000158763	ENST00000295900.6:c.1147G>C	3.37:g.63973786G>C	ENSP00000295900:p.Asp383His					ATXN7_uc003dlv.2_Missense_Mutation_p.D383H|ATXN7_uc010hnv.2_Missense_Mutation_p.D383H|ATXN7_uc011bfn.1_Missense_Mutation_p.D238H	p.D383H	NM_000333	NP_000324	O15265	ATX7_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000614)|KIRC - Kidney renal clear cell carcinoma(15;0.00294)|Kidney(15;0.00305)	9	1700	+		Prostate(884;0.0181)	383			SCA7.		B4E207|E9PHP9|O75328|O75329|Q9Y6P8	Missense_Mutation	SNP	ENST00000295900.6	37	c.1147G>C	CCDS43102.1	.	.	.	.	.	.	.	.	.	.	G	31	5.094962	0.94197	.	.	ENSG00000163635	ENST00000398590;ENST00000295900;ENST00000487717;ENST00000538065;ENST00000484332	T;T;T;T;T	0.40225	1.04;1.1;1.1;1.04;1.07	5.95	5.95	0.96441	SCA7 domain (2);	0.049394	0.85682	D	0.000000	T	0.68769	0.3037	M	0.77406	2.37	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.997	D;D;D	0.97110	1.0;0.999;0.99	T	0.70128	-0.4957	10	0.87932	D	0	-11.0447	20.3931	0.98965	0.0:0.0:1.0:0.0	.	238;383;383	E9PHP9;O15265-2;O15265	.;.;ATX7_HUMAN	H	383;383;383;383;238	ENSP00000381590:D383H;ENSP00000295900:D383H;ENSP00000420234:D383H;ENSP00000439585:D383H;ENSP00000428277:D238H	ENSP00000295900:D383H	D	+	1	0	ATXN7	63948826	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.869000	0.99810	2.824000	0.97209	0.655000	0.94253	GAT		0.458	ATXN7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352070.1	NM_000333		74	201	0	0	0	0	74	201				
MITF	4286	broad.mit.edu	37	3	70014321	70014321	+	Silent	SNP	C	C	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr3:70014321C>T	ENST00000448226.2	+	10	1630	c.1503C>T	c.(1501-1503)tcC>tcT	p.S501S	MITF_ENST00000472437.1_Silent_p.S443S|MITF_ENST00000314557.6_Silent_p.S388S|MITF_ENST00000531774.1_Silent_p.S332S|MITF_ENST00000394351.3_Silent_p.S394S|MITF_ENST00000394355.2_Silent_p.S470S|MITF_ENST00000328528.6_Silent_p.S494S|MITF_ENST00000352241.4_Silent_p.S495S|MITF_ENST00000314589.5_Silent_p.S479S			O75030	MITF_HUMAN	microphthalmia-associated transcription factor	501					bone remodeling (GO:0046849)|camera-type eye development (GO:0043010)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|cell fate commitment (GO:0045165)|melanocyte differentiation (GO:0030318)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|osteoclast differentiation (GO:0030316)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|regulation of cell proliferation (GO:0042127)|regulation of osteoclast differentiation (GO:0045670)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)			NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|skin(6)|stomach(1)|urinary_tract(2)	30		Lung NSC(201;0.0384)|Prostate(884;0.0526)		BRCA - Breast invasive adenocarcinoma(55;3.07e-05)|Epithelial(33;0.000138)|LUSC - Lung squamous cell carcinoma(21;0.008)|Lung(16;0.0107)|KIRC - Kidney renal clear cell carcinoma(39;0.204)|Kidney(39;0.239)		CACTCCTTTCCTCAGTGTCCC	0.532			A		melanoma		"""Waardenburg syndrome type 2, Tietz syndrome"""																														Melanoma(29;269 969 31479 41502 42961)	uc003dnz.2		NA		Dom	yes		3	3p14.1	4286	A	microphthalmia-associated transcription factor	yes	Waardenburg syndrome type 2|Tietz syndrome	E			melanoma 		0				ovary(2)	2						c.(1483-1485)TCC>TCT		microphthalmia-associated transcription factor							109.0	106.0	107.0					3																	70014321		2203	4300	6503	SO:0001819	synonymous_variant	4286				melanocyte differentiation|multicellular organismal development|protein complex assembly	nucleus|protein complex	DNA binding|protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription	g.chr3:70014321C>T		CCDS2913.1, CCDS43106.1, CCDS43107.1, CCDS46865.1, CCDS46866.1, CCDS46866.2, CCDS54607.1, CCDS74962.1	3p14.1-p12.3	2014-09-17			ENSG00000187098	ENSG00000187098		"""Basic helix-loop-helix proteins"""	7105	protein-coding gene	gene with protein product	"""homolog of mouse microphthalmia"""	156845	"""Waardenburg syndrome, type 2A"""	WS2A, WS2		8069297, 7874167, 7951321	Standard	NM_198159		Approved	MI, bHLHe32	uc003dnz.3	O75030	OTTHUMG00000149921	ENST00000448226.2:c.1503C>T	3.37:g.70014321C>T						MITF_uc011bgb.1_Silent_p.S443S|MITF_uc003doa.2_Silent_p.S494S|MITF_uc003dob.2_Silent_p.S479S|MITF_uc003dod.2_Silent_p.S470S|MITF_uc003doe.2_Silent_p.S388S|MITF_uc003dof.2_Silent_p.S394S	p.S495S	NM_198159	NP_937802	O75030	MITF_HUMAN		BRCA - Breast invasive adenocarcinoma(55;3.07e-05)|Epithelial(33;0.000138)|LUSC - Lung squamous cell carcinoma(21;0.008)|Lung(16;0.0107)|KIRC - Kidney renal clear cell carcinoma(39;0.204)|Kidney(39;0.239)	10	1601	+		Lung NSC(201;0.0384)|Prostate(884;0.0526)	501					B4DJL2|D3K197|E9PFN0|Q14841|Q9P2V0|Q9P2V1|Q9P2V2|Q9P2Y8	Silent	SNP	ENST00000448226.2	37	c.1485C>T																																																																																					0.532	MITF-007	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000313947.1	NM_198159		20	74	0	0	0	0	20	74				
ROBO2	6092	broad.mit.edu	37	3	77666728	77666728	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr3:77666728G>C	ENST00000461745.1	+	22	4258	c.3358G>C	c.(3358-3360)Gat>Cat	p.D1120H	ROBO2_ENST00000332191.8_Missense_Mutation_p.D1120H|ROBO2_ENST00000469233.1_3'UTR|ROBO2_ENST00000487694.3_Missense_Mutation_p.D1136H	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	1120					apoptotic process involved in luteolysis (GO:0061364)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|brain development (GO:0007420)|cellular response to hormone stimulus (GO:0032870)|central nervous system development (GO:0007417)|homophilic cell adhesion (GO:0007156)|metanephros development (GO:0001656)|negative regulation of negative chemotaxis (GO:0050925)|negative regulation of synapse assembly (GO:0051964)|olfactory bulb interneuron development (GO:0021891)|positive regulation of axonogenesis (GO:0050772)|retinal ganglion cell axon guidance (GO:0031290)|ureteric bud development (GO:0001657)	axolemma (GO:0030673)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		AGGTCTGGAAGATGAACTGGA	0.458																																						uc003dpy.3		NA																	0				lung(5)|skin(3)|ovary(1)|large_intestine(1)|liver(1)	11						c.(3358-3360)GAT>CAT		roundabout, axon guidance receptor, homolog 2							126.0	117.0	120.0					3																	77666728		2003	4170	6173	SO:0001583	missense	6092				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding	g.chr3:77666728G>C	AF040991	CCDS43109.1, CCDS54609.1	3p12.3	2013-02-11	2001-11-28		ENSG00000185008	ENSG00000185008		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	10250	protein-coding gene	gene with protein product		602431	"""roundabout (axon guidance receptor, Drosophila) homolog 2"""			9458045	Standard	NM_002942		Approved	KIAA1568	uc003dpy.4	Q9HCK4	OTTHUMG00000158935	ENST00000461745.1:c.3358G>C	3.37:g.77666728G>C	ENSP00000417164:p.Asp1120His					ROBO2_uc003dpz.2_Missense_Mutation_p.D1124H|ROBO2_uc011bgj.1_RNA|ROBO2_uc011bgk.1_Missense_Mutation_p.D1124H|ROBO2_uc003dqa.2_Missense_Mutation_p.D247H	p.D1120H	NM_002942	NP_002933	Q9HCK4	ROBO2_HUMAN		Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)	22	4001	+			1120			Cytoplasmic (Potential).		O43608|Q19AB4|Q19AB5	Missense_Mutation	SNP	ENST00000461745.1	37	c.3358G>C	CCDS43109.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.8|23.8	4.457775|4.457775	0.84317|0.84317	.|.	.|.	ENSG00000185008|ENSG00000185008	ENST00000487694;ENST00000403211;ENST00000461745;ENST00000332191|ENST00000490991	T;T;T|.	0.64618|.	-0.11;-0.07;-0.06|.	5.58|5.58	5.58|5.58	0.84498|0.84498	.|.	0.000000|.	0.47455|.	D|.	0.000234|.	T|T	0.67363|0.67363	0.2885|0.2885	L|L	0.40543|0.40543	1.245|1.245	0.32073|.	N|.	0.594149|.	P;D;D|.	0.60575|.	0.944;0.988;0.974|.	P;P;P|.	0.60682|.	0.496;0.878;0.694|.	T|T	0.61992|0.61992	-0.6948|-0.6948	9|4	0.59425|.	D|.	0.04|.	.|.	19.5819|19.5819	0.95471|0.95471	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1136;1120;1120|.	Q19AB5;F8W703;Q9HCK4|.	.;.;ROBO2_HUMAN|.	H|N	1136;1136;1120;1120|276	ENSP00000417335:D1136H;ENSP00000417164:D1120H;ENSP00000327536:D1120H|.	ENSP00000327536:D1120H|.	D|K	+|+	1|3	0|2	ROBO2|ROBO2	77749418|77749418	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.866000|0.866000	0.49608|0.49608	6.322000|6.322000	0.72886|0.72886	2.624000|2.624000	0.88883|0.88883	0.655000|0.655000	0.94253|0.94253	GAT|AAG		0.458	ROBO2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352600.2	XM_031246		31	84	0	0	0	0	31	84				
GABRR3	200959	broad.mit.edu	37	3	97711819	97711819	+	RNA	SNP	G	G	C			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr3:97711819G>C	ENST00000472788.1	-	0	982					NM_001105580.2	NP_001099050.1	A8MPY1	GBRR3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, rho 3 (gene/pseudogene)						gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			large_intestine(2)|lung(1)	3					Adinazolam(DB00546)|Bromazepam(DB01558)|Cinolazepam(DB01594)|Clotiazepam(DB01559)|Diazepam(DB00829)|Estazolam(DB01215)|Fludiazepam(DB01567)|Flurazepam(DB00690)|Halazepam(DB00801)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Prazepam(DB01588)|Quazepam(DB01589)|Temazepam(DB00231)|Triazolam(DB00897)	CCACAGCCTTGAGGTAGGACA	0.532																																						uc011bgr.1		NA																	0					0						c.(979-981)CTC>CTG		gamma-aminobutyric acid (GABA) receptor, rho 3							141.0	142.0	141.0					3																	97711819		2155	4283	6438			200959				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr3:97711819G>C	Y18994	CCDS54617.1	3q11.2	2014-03-25	2014-03-25		ENSG00000183185	ENSG00000183185		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	17969	protein-coding gene	gene with protein product	"""GABA(A) receptor, rho 3"""		"""gamma-aminobutyric acid (GABA) receptor, rho 3"", ""gamma-aminobutyric acid (GABA) A receptor, rho 3"""			10542332	Standard	NM_001105580		Approved		uc021xbp.1	A8MPY1	OTTHUMG00000159135		3.37:g.97711819G>C							p.L327L	NM_001105580	NP_001099050	A8MPY1	GBRR3_HUMAN			8	981	-			327			Extracellular (Potential).		Q9UIV9	Silent	SNP	ENST00000472788.1	37	c.981C>G																																																																																					0.532	GABRR3-002	KNOWN	not_organism_supported|basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000353445.2			16	132	0	0	0	0	16	132				
ST3GAL6	10402	broad.mit.edu	37	3	98512551	98512551	+	Silent	SNP	C	C	G			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr3:98512551C>G	ENST00000483910.1	+	10	1231	c.942C>G	c.(940-942)ctC>ctG	p.L314L	ST3GAL6_ENST00000265261.6_Silent_p.L196L|ST3GAL6_ENST00000394162.1_Silent_p.L314L|ST3GAL6_ENST00000462152.1_3'UTR	NM_001271146.1	NP_001258075.1	Q9Y274	SIA10_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 6	314					carbohydrate metabolic process (GO:0005975)|cellular protein modification process (GO:0006464)|cellular response to interleukin-6 (GO:0071354)|glycolipid metabolic process (GO:0006664)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|oligosaccharide metabolic process (GO:0009311)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|integral component of membrane (GO:0016021)	beta-galactoside alpha-2,3-sialyltransferase activity (GO:0052798)			breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(1)	19						CAGAGCAGCTCTTTTTGAAGG	0.353																																						uc003dsz.2		NA																	0				ovary(1)	1						c.(940-942)CTC>CTG		alpha2,3-sialyltransferase VI							111.0	116.0	114.0					3																	98512551		2203	4300	6503	SO:0001819	synonymous_variant	10402				amino sugar metabolic process|glycolipid metabolic process|protein glycosylation|protein lipoylation	integral to Golgi membrane	sialyltransferase activity	g.chr3:98512551C>G	AF119391	CCDS2933.1, CCDS59452.1, CCDS74968.1	3q12.2	2013-03-01	2005-02-07	2005-02-07	ENSG00000064225	ENSG00000064225		"""Sialyltransferases"""	18080	protein-coding gene	gene with protein product		607156	"""sialyltransferase 10 (alpha-2,3-sialyltransferase VI)"""	SIAT10		10206952	Standard	NM_006100		Approved	ST3GALVI	uc010hpd.4	Q9Y274	OTTHUMG00000159047	ENST00000483910.1:c.942C>G	3.37:g.98512551C>G						ST3GAL6_uc003dsy.2_Silent_p.L228L|ST3GAL6_uc003dta.2_Silent_p.L196L|ST3GAL6_uc003dtb.2_Silent_p.L170L|ST3GAL6_uc003dtc.2_Silent_p.L314L|ST3GAL6_uc010hpd.2_Silent_p.L367L	p.L314L	NM_006100	NP_006091	Q9Y274	SIA10_HUMAN			10	1178	+			314			Lumenal (Potential).		B2RCH2|B3KMI1|D3DN39|F8W6U0	Silent	SNP	ENST00000483910.1	37	c.942C>G	CCDS2933.1																																																																																				0.353	ST3GAL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353013.2	NM_006100		36	107	0	0	0	0	36	107				
ZNF80	7634	broad.mit.edu	37	3	113955429	113955429	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr3:113955429C>G	ENST00000482457.2	-	1	996	c.493G>C	c.(493-495)Gaa>Caa	p.E165Q	RP11-553L6.2_ENST00000481773.1_RNA|RP11-553L6.2_ENST00000493033.1_RNA	NM_007136.3	NP_009067.2	P51504	ZNF80_HUMAN	zinc finger protein 80	165					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|urinary_tract(2)	32		Lung NSC(201;0.0233)|all_neural(597;0.0837)				TTTCCACATTCTTTGCACCCA	0.488																																					GBM(23;986 1114 21716)	uc010hqo.2		NA																	0					0						c.(493-495)GAA>CAA		zinc finger protein 80							105.0	109.0	107.0					3																	113955429		2203	4300	6503	SO:0001583	missense	7634					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:113955429C>G	X65233	CCDS2979.1	3q13.31	2013-01-08	2006-05-12		ENSG00000174255	ENSG00000174255		"""Zinc fingers, C2H2-type"""	13155	protein-coding gene	gene with protein product		194553	"""zinc finger protein 80 (pT17)"""			8478004	Standard	NM_007136		Approved	pT17	uc010hqo.3	P51504	OTTHUMG00000159332	ENST00000482457.2:c.493G>C	3.37:g.113955429C>G	ENSP00000417192:p.Glu165Gln					ZNF80_uc003ebf.2_RNA	p.E165Q	NM_007136	NP_009067	P51504	ZNF80_HUMAN			1	997	-		Lung NSC(201;0.0233)|all_neural(597;0.0837)	165			C2H2-type 5.		Q6NSW4|Q6NT14	Missense_Mutation	SNP	ENST00000482457.2	37	c.493G>C	CCDS2979.1	.	.	.	.	.	.	.	.	.	.	C	11.92	1.781713	0.31502	.	.	ENSG00000174255	ENST00000482457	T	0.07444	3.19	3.0	1.14	0.20703	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04092	0.0114	N	0.16903	0.455	0.09310	N	1	P	0.46952	0.887	B	0.37451	0.25	T	0.40997	-0.9533	9	0.27082	T	0.32	.	5.4355	0.16478	0.1987:0.6838:0.0:0.1175	.	165	P51504	ZNF80_HUMAN	Q	165	ENSP00000417192:E165Q	ENSP00000309812:E165Q	E	-	1	0	ZNF80	115438119	0.000000	0.05858	0.005000	0.12908	0.342000	0.28953	-1.005000	0.03674	0.289000	0.22422	0.491000	0.48974	GAA		0.488	ZNF80-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354696.2	NM_007136		17	156	0	0	0	0	17	156				
PODXL2	50512	broad.mit.edu	37	3	127390296	127390296	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr3:127390296C>G	ENST00000342480.6	+	7	1484	c.1445C>G	c.(1444-1446)tCc>tGc	p.S482C	ABTB1_ENST00000453791.2_5'Flank|ABTB1_ENST00000393363.3_5'Flank|ABTB1_ENST00000468137.1_5'Flank|ABTB1_ENST00000232744.8_5'Flank	NM_015720.2	NP_056535.1	Q9NZ53	PDXL2_HUMAN	podocalyxin-like 2	482					leukocyte tethering or rolling (GO:0050901)	integral component of plasma membrane (GO:0005887)	glycosaminoglycan binding (GO:0005539)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	26						CAGAACTATTCCACAACCAGC	0.632																																						uc003ejq.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(1444-1446)TCC>TGC		podocalyxin-like 2 precursor							61.0	60.0	60.0					3																	127390296		2203	4300	6503	SO:0001583	missense	50512				leukocyte tethering or rolling	integral to plasma membrane	glycosaminoglycan binding|protein binding	g.chr3:127390296C>G	AF219137	CCDS3044.1	3q21.3	2005-02-18			ENSG00000114631	ENSG00000114631			17936	protein-coding gene	gene with protein product	"""endoglycan"""					10722749	Standard	NM_015720		Approved	PODLX2, endoglycan	uc003ejq.3	Q9NZ53	OTTHUMG00000159642	ENST00000342480.6:c.1445C>G	3.37:g.127390296C>G	ENSP00000345359:p.Ser482Cys					ABTB1_uc003ejr.2_5'Flank|ABTB1_uc003ejs.2_5'Flank|ABTB1_uc003ejt.2_5'Flank|ABTB1_uc003eju.2_5'Flank	p.S482C	NM_015720	NP_056535	Q9NZ53	PDXL2_HUMAN			7	1469	+			482			Extracellular (Potential).		Q6UVY4|Q8WUV6	Missense_Mutation	SNP	ENST00000342480.6	37	c.1445C>G	CCDS3044.1	.	.	.	.	.	.	.	.	.	.	C	17.07	3.294786	0.60086	.	.	ENSG00000114631	ENST00000342480;ENST00000302192	T	0.25250	1.81	4.08	4.08	0.47627	.	0.144459	0.49305	D	0.000145	T	0.45716	0.1356	L	0.54323	1.7	0.31929	N	0.612463	D	0.71674	0.998	D	0.68943	0.961	T	0.58059	-0.7703	10	0.87932	D	0	-16.9464	16.3425	0.83092	0.0:1.0:0.0:0.0	.	482	Q9NZ53	PDXL2_HUMAN	C	482;407	ENSP00000345359:S482C	ENSP00000304498:S407C	S	+	2	0	PODXL2	128872986	1.000000	0.71417	0.998000	0.56505	0.805000	0.45488	5.217000	0.65252	1.838000	0.53458	0.289000	0.19496	TCC		0.632	PODXL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356638.1	NM_015720		23	88	0	0	0	0	23	88				
COL6A6	131873	broad.mit.edu	37	3	130300643	130300643	+	Silent	SNP	G	G	C			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr3:130300643G>C	ENST00000358511.6	+	8	3817	c.3786G>C	c.(3784-3786)ctG>ctC	p.L1262L	COL6A6_ENST00000453409.2_Silent_p.L1262L	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	1262	Nonhelical region.|VWFA 7. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						AAAACATACTGAATAGCTTGA	0.413																																						uc010htl.2		NA																	0				ovary(6)|central_nervous_system(1)|pancreas(1)	8						c.(3784-3786)CTG>CTC		collagen type VI alpha 6 precursor							148.0	143.0	145.0					3																	130300643		1906	4106	6012	SO:0001819	synonymous_variant	131873				axon guidance|cell adhesion	collagen		g.chr3:130300643G>C	AL713792	CCDS46911.1	3q22.1	2013-01-16			ENSG00000206384	ENSG00000206384		"""Collagens"""	27023	protein-coding gene	gene with protein product							Standard	NM_001102608		Approved		uc010htl.3	A6NMZ7	OTTHUMG00000159653	ENST00000358511.6:c.3786G>C	3.37:g.130300643G>C						COL6A6_uc003eni.3_5'Flank	p.L1262L	NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN			8	3817	+			1262			VWFA 7.|Nonhelical region.		A7DZQ0|A7DZQ1|A7DZQ2|Q69YT0	Silent	SNP	ENST00000358511.6	37	c.3786G>C	CCDS46911.1	.	.	.	.	.	.	.	.	.	.	G	0.440	-0.899025	0.02472	.	.	ENSG00000206384	ENST00000511332	.	.	.	6.06	4.22	0.49857	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.5837	0.17264	0.1462:0.0:0.5733:0.2805	.	.	.	.	S	20	.	.	X	+	2	2	COL6A6	131783333	0.971000	0.33674	0.994000	0.49952	0.128000	0.20619	0.795000	0.26972	0.835000	0.34877	0.655000	0.94253	TGA		0.413	COL6A6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356705.5	NM_001102608		61	164	0	0	0	0	61	164				
TF	7018	broad.mit.edu	37	3	133496034	133496034	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr3:133496034G>A	ENST00000402696.3	+	16	2499	c.2014G>A	c.(2014-2016)Gaa>Aaa	p.E672K	TF_ENST00000264998.3_Missense_Mutation_p.E545K	NM_001063.3	NP_001054	P02787	TRFE_HUMAN	transferrin	672	Transferrin-like 2. {ECO:0000255|PROSITE- ProRule:PRU00741}.			E -> Q (in Ref. 12; AA sequence). {ECO:0000305}.	blood coagulation (GO:0007596)|cellular iron ion homeostasis (GO:0006879)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|retina homeostasis (GO:0001895)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basal part of cell (GO:0045178)|basal plasma membrane (GO:0009925)|blood microparticle (GO:0072562)|cell surface (GO:0009986)|coated pit (GO:0005905)|cytoplasmic membrane-bounded vesicle (GO:0016023)|early endosome (GO:0005769)|endocytic vesicle (GO:0030139)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)|secretory granule lumen (GO:0034774)|vesicle (GO:0031982)	ferric iron binding (GO:0008199)			NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(7)|large_intestine(13)|liver(2)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49					Aluminium(DB01370)|Bismuth Subsalicylate(DB01294)|Gallium nitrate(DB05260)|Iron Dextran(DB00893)	ATACTTAGGAGAAGAATATGT	0.443																																						uc003epu.1		NA																	0				ovary(1)|skin(1)	2						c.(2014-2016)GAA>AAA		transferrin precursor	Aluminium(DB01370)|Bismuth(DB01402)|Iron Dextran(DB00893)						78.0	75.0	76.0					3																	133496034		2203	4300	6503	SO:0001583	missense	7018				cellular iron ion homeostasis|platelet activation|platelet degranulation|transferrin transport|transmembrane transport	apical plasma membrane|basal plasma membrane|coated pit|early endosome|endocytic vesicle|endosome membrane|extracellular region|late endosome|perinuclear region of cytoplasm|recycling endosome|stored secretory granule	ferric iron binding	g.chr3:133496034G>A		CCDS3080.1	3q21	2012-10-02			ENSG00000091513	ENSG00000091513			11740	protein-coding gene	gene with protein product		190000				6585826	Standard	NM_001063		Approved	PRO1557, PRO2086	uc003epv.2	P02787	OTTHUMG00000150356	ENST00000402696.3:c.2014G>A	3.37:g.133496034G>A	ENSP00000385834:p.Glu672Lys					TF_uc011blt.1_Missense_Mutation_p.E545K|TF_uc003epw.1_Missense_Mutation_p.E111K|TF_uc003epv.1_Missense_Mutation_p.E672K	p.E672K	NM_001063	NP_001054	P02787	TRFE_HUMAN			21	3742	+			672	E -> Q (in Ref. 12; AA sequence).		Transferrin-like 2.		O43890|Q1HBA5|Q9NQB8|Q9UHV0	Missense_Mutation	SNP	ENST00000402696.3	37	c.2014G>A	CCDS3080.1	.	.	.	.	.	.	.	.	.	.	G	11.08	1.532305	0.27387	.	.	ENSG00000091513	ENST00000402696;ENST00000264998	T;T	0.06068	3.35;3.35	5.46	-4.02	0.04034	.	1.918370	0.01885	N	0.038132	T	0.04227	0.0117	N	0.21617	0.685	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.09377	0.004;0.004	T	0.40646	-0.9552	10	0.08837	T	0.75	0.4094	7.4285	0.27113	0.14:0.5772:0.1825:0.1003	.	398;672	B4DHZ6;P02787	.;TRFE_HUMAN	K	672;545	ENSP00000385834:E672K;ENSP00000264998:E545K	ENSP00000264998:E545K	E	+	1	0	TF	134978724	0.000000	0.05858	0.002000	0.10522	0.757000	0.42996	-0.854000	0.04299	-0.361000	0.08125	0.591000	0.81541	GAA		0.443	TF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317775.1	NM_001063		13	40	0	0	0	0	13	40				
NCK1	4690	broad.mit.edu	37	3	136664663	136664663	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr3:136664663C>A	ENST00000481752.1	+	3	629	c.465C>A	c.(463-465)ttC>ttA	p.F155L	NCK1_ENST00000469404.1_Missense_Mutation_p.F91L|NCK1_ENST00000288986.2_Missense_Mutation_p.F155L			P16333	NCK1_HUMAN	NCK adaptor protein 1	155	SH3 2. {ECO:0000255|PROSITE- ProRule:PRU00192}.				actin filament organization (GO:0007015)|axon guidance (GO:0007411)|cell migration (GO:0016477)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|lamellipodium assembly (GO:0030032)|negative regulation of cell death (GO:0060548)|negative regulation of protein kinase activity (GO:0006469)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of translation (GO:0006417)|response to other organism (GO:0051707)|signal complex assembly (GO:0007172)|T cell activation (GO:0042110)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle membrane (GO:0012506)	cytoskeletal adaptor activity (GO:0008093)|protein kinase inhibitor activity (GO:0004860)|receptor binding (GO:0005102)|receptor signaling complex scaffold activity (GO:0030159)|receptor tyrosine kinase binding (GO:0030971)			cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	13						TTGGATGGTTCCCTTCAAACT	0.443																																						uc003erh.2		NA																	0				pancreas(1)	1						c.(463-465)TTC>TTA		NCK adaptor protein 1							270.0	260.0	263.0					3																	136664663		2203	4300	6503	SO:0001583	missense	4690				axon guidance|positive regulation of actin filament polymerization|positive regulation of T cell proliferation|regulation of translation|signal complex assembly|T cell activation|T cell receptor signaling pathway	cytosol|endoplasmic reticulum|nucleus	cytoskeletal adaptor activity|receptor binding|receptor signaling complex scaffold activity	g.chr3:136664663C>A	X17576	CCDS3092.1, CCDS54644.1	3q21	2013-02-14			ENSG00000158092	ENSG00000158092		"""SH2 domain containing"""	7664	protein-coding gene	gene with protein product		600508		NCK		7806213, 9737977	Standard	XM_005247498		Approved	NCKalpha	uc003erh.3	P16333	OTTHUMG00000159781	ENST00000481752.1:c.465C>A	3.37:g.136664663C>A	ENSP00000417273:p.Phe155Leu					NCK1_uc011bme.1_Missense_Mutation_p.F91L	p.F155L	NM_006153	NP_006144	P16333	NCK1_HUMAN			3	572	+			155			SH3 2.		B7Z751|D3DNE3	Missense_Mutation	SNP	ENST00000481752.1	37	c.465C>A	CCDS3092.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.952359	0.73787	.	.	ENSG00000158092	ENST00000288986;ENST00000481752;ENST00000469404	T;T;T	0.44881	0.91;0.91;0.91	6.16	-0.439	0.12264	Src homology-3 domain (5);	0.000000	0.85682	D	0.000000	T	0.62588	0.2440	M	0.86268	2.805	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.991	T	0.64719	-0.6341	10	0.66056	D	0.02	.	10.4948	0.44770	0.0:0.4691:0.0:0.5309	.	91;155	B7Z751;P16333	.;NCK1_HUMAN	L	155;155;91	ENSP00000288986:F155L;ENSP00000417273:F155L;ENSP00000419631:F91L	ENSP00000288986:F155L	F	+	3	2	NCK1	138147353	0.992000	0.36948	0.997000	0.53966	0.993000	0.82548	0.265000	0.18515	-0.024000	0.13941	-0.142000	0.14014	TTC		0.443	NCK1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357307.1	NM_006153		19	169	1	0	1.16e-05	1.2e-05	19	169				
C3orf58	205428	broad.mit.edu	37	3	143691432	143691432	+	Silent	SNP	C	C	G			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr3:143691432C>G	ENST00000315691.3	+	1	793	c.258C>G	c.(256-258)ctC>ctG	p.L86L	C3orf58_ENST00000495414.1_5'Flank|C3orf58_ENST00000441925.2_5'Flank	NM_173552.3	NP_775823.1	Q8NDZ4	DIA1_HUMAN	chromosome 3 open reading frame 58	86					cardiac muscle cell proliferation (GO:0060038)|regulation of phosphatidylinositol 3-kinase signaling (GO:0014066)	COPI vesicle coat (GO:0030126)|extracellular space (GO:0005615)|Golgi membrane (GO:0000139)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						TGGACTTCCTCAACGTGAAGA	0.697																																						uc003evo.2		NA																	0				ovary(1)	1						c.(256-258)CTC>CTG		hypothetical protein LOC205428 isoform a							32.0	34.0	33.0					3																	143691432		2188	4262	6450	SO:0001819	synonymous_variant	205428					COPI vesicle coat|extracellular region		g.chr3:143691432C>G	AK095161	CCDS3130.1, CCDS46929.1	3q24	2013-12-06			ENSG00000181744	ENSG00000181744			28490	protein-coding gene	gene with protein product	"""deleted in autism 1"", ""hypoxia and Akt induced stem cell factor"""	612200				21283809, 23784961, 24269490	Standard	NM_173552		Approved	MGC33365, DIA1, HASF	uc003evo.3	Q8NDZ4	OTTHUMG00000159380	ENST00000315691.3:c.258C>G	3.37:g.143691432C>G						C3orf58_uc011bnl.1_5'Flank	p.L86L	NM_173552	NP_775823	Q8NDZ4	CC058_HUMAN			1	793	+			86					B2RCF2|B7Z1W3	Silent	SNP	ENST00000315691.3	37	c.258C>G	CCDS3130.1																																																																																				0.697	C3orf58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355038.1	NM_173552		7	48	0	0	0	0	7	48				
PLOD2	5352	broad.mit.edu	37	3	145828128	145828128	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr3:145828128C>G	ENST00000360060.3	-	4	623	c.446G>C	c.(445-447)aGa>aCa	p.R149T	PLOD2_ENST00000282903.5_Missense_Mutation_p.R149T|PLOD2_ENST00000494950.1_Missense_Mutation_p.R94T	NM_000935.2	NP_000926.2	O00469	PLOD2_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2	149					cellular protein modification process (GO:0006464)|extracellular matrix organization (GO:0030198)|response to hypoxia (GO:0001666)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|procollagen-lysine 5-dioxygenase activity (GO:0008475)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29					Vitamin C(DB00126)	GTCTGCTAGTCTTTTATCTGG	0.388																																						uc003evs.1		NA																	0				ovary(1)|skin(1)	2						c.(445-447)AGA>ACA		procollagen-lysine, 2-oxoglutarate 5-dioxygenase	Vitamin C(DB00126)						155.0	156.0	155.0					3																	145828128		2203	4300	6503	SO:0001583	missense	5352				protein modification process|response to hypoxia	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding	g.chr3:145828128C>G	U84573	CCDS3131.1, CCDS3132.1	3q24	2011-08-24	2005-01-04		ENSG00000152952	ENSG00000152952			9082	protein-coding gene	gene with protein product	"""lysyl hydroxlase 2"""	601865	"""procollagen-lysine, 2-oxoglutarate 5-dioxygenase (lysine hydroxylase) 2"""			9054364	Standard	XM_005247535		Approved	LH2	uc003evr.1	O00469	OTTHUMG00000159417	ENST00000360060.3:c.446G>C	3.37:g.145828128C>G	ENSP00000353170:p.Arg149Thr					PLOD2_uc011bnm.1_Missense_Mutation_p.R94T|PLOD2_uc003evr.1_Missense_Mutation_p.R149T	p.R149T	NM_000935	NP_000926	O00469	PLOD2_HUMAN			4	952	-			149					B3KWS3|Q59ED2|Q8N170	Missense_Mutation	SNP	ENST00000360060.3	37	c.446G>C	CCDS3131.1	.	.	.	.	.	.	.	.	.	.	C	11.01	1.513625	0.27123	.	.	ENSG00000152952	ENST00000282903;ENST00000360060;ENST00000494950;ENST00000469350	T;T;T;T	0.19250	2.16;2.16;2.16;2.16	5.16	3.35	0.38373	.	0.206543	0.48767	D	0.000178	T	0.17195	0.0413	L	0.39326	1.205	0.41510	D	0.988335	B;B;B	0.27068	0.124;0.167;0.029	B;B;B	0.28991	0.036;0.097;0.055	T	0.05886	-1.0858	10	0.22706	T	0.39	-19.8152	11.3743	0.49719	0.0:0.8513:0.0:0.1487	.	94;149;149	E7ETU9;O00469;O00469-2	.;PLOD2_HUMAN;.	T	149;149;94;121	ENSP00000282903:R149T;ENSP00000353170:R149T;ENSP00000420094:R94T;ENSP00000419963:R121T	ENSP00000282903:R149T	R	-	2	0	PLOD2	147310818	0.998000	0.40836	0.992000	0.48379	0.991000	0.79684	1.321000	0.33678	1.166000	0.42689	0.585000	0.79938	AGA		0.388	PLOD2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000355185.1	NM_000935		25	76	0	0	0	0	25	76				
IGSF10	285313	broad.mit.edu	37	3	151155923	151155923	+	Silent	SNP	C	C	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr3:151155923C>T	ENST00000282466.3	-	6	6425	c.6426G>A	c.(6424-6426)cgG>cgA	p.R2142R	IGSF10_ENST00000495443.1_5'UTR	NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	2142	Ig-like C2-type 8.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)	extracellular region (GO:0005576)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TCTGCCTTATCCGGGGAGCAG	0.458																																						uc011bod.1		NA																	0				skin(7)|ovary(5)|central_nervous_system(1)	13						c.(6424-6426)CGG>CGA		immunoglobulin superfamily, member 10 precursor							87.0	76.0	80.0					3																	151155923		2203	4300	6503	SO:0001819	synonymous_variant	285313				cell differentiation|multicellular organismal development|ossification	extracellular region		g.chr3:151155923C>T	AY273815	CCDS3160.1	3q25.1	2013-01-11			ENSG00000152580	ENSG00000152580		"""Immunoglobulin superfamily / I-set domain containing"""	26384	protein-coding gene	gene with protein product						12477932	Standard	NM_178822		Approved	FLJ25972, CMF608	uc011bod.2	Q6WRI0	OTTHUMG00000159856	ENST00000282466.3:c.6426G>A	3.37:g.151155923C>T						IGSF10_uc011bob.1_Silent_p.R169R|IGSF10_uc011boc.1_Silent_p.R121R	p.R2142R	NM_178822	NP_849144	Q6WRI0	IGS10_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		6	6426	-			2142			Ig-like C2-type 8.		Q86YJ9|Q8N772|Q8NA84	Silent	SNP	ENST00000282466.3	37	c.6426G>A	CCDS3160.1																																																																																				0.458	IGSF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357782.1	NM_178822		25	62	0	0	0	0	25	62				
USP13	8975	broad.mit.edu	37	3	179481862	179481862	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr3:179481862C>G	ENST00000263966.3	+	18	2636	c.2165C>G	c.(2164-2166)tCt>tGt	p.S722C	USP13_ENST00000496897.1_Missense_Mutation_p.S657C	NM_003940.2	NP_003931.2	Q92995	UBP13_HUMAN	ubiquitin specific peptidase 13 (isopeptidase T-3)	722	USP.				autophagy (GO:0006914)|cell proliferation (GO:0008283)|melanocyte differentiation (GO:0030318)|protein K63-linked deubiquitination (GO:0070536)|protein stabilization (GO:0050821)|regulation of autophagy (GO:0010506)|regulation of transcription, DNA-templated (GO:0006355)|ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type endopeptidase activity (GO:0004197)|omega peptidase activity (GO:0008242)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	46	all_cancers(143;7.79e-15)|Ovarian(172;0.0338)|Breast(254;0.148)		OV - Ovarian serous cystadenocarcinoma(80;1e-25)|GBM - Glioblastoma multiforme(14;0.0169)			TTTGGTGCTTCTGGACTGGAT	0.502																																						uc003fkh.2		NA																	0				ovary(1)	1						c.(2164-2166)TCT>TGT		ubiquitin thiolesterase 13							121.0	107.0	112.0					3																	179481862		2203	4300	6503	SO:0001583	missense	8975				ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	g.chr3:179481862C>G	U75362	CCDS3235.1	3q26.2-q26.3	2008-04-11	2005-08-08		ENSG00000058056	ENSG00000058056		"""Ubiquitin-specific peptidases"""	12611	protein-coding gene	gene with protein product		603591	"""ubiquitin specific protease 13 (isopeptidase T-3)"""			12838346	Standard	NM_003940		Approved	IsoT-3	uc003fkh.3	Q92995	OTTHUMG00000157783	ENST00000263966.3:c.2165C>G	3.37:g.179481862C>G	ENSP00000263966:p.Ser722Cys						p.S722C	NM_003940	NP_003931	Q92995	UBP13_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1e-25)|GBM - Glioblastoma multiforme(14;0.0169)		18	2246	+	all_cancers(143;7.79e-15)|Ovarian(172;0.0338)|Breast(254;0.148)		722					A8K2S3|B4DYF3|D3DNS2|Q96B25	Missense_Mutation	SNP	ENST00000263966.3	37	c.2165C>G	CCDS3235.1	.	.	.	.	.	.	.	.	.	.	C	18.06	3.538919	0.65085	.	.	ENSG00000058056	ENST00000263966;ENST00000496897	T;T	0.16324	2.35;2.35	5.87	3.86	0.44501	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);UBA-like (1);	0.417256	0.28488	N	0.015161	T	0.13500	0.0327	N	0.14661	0.345	0.26508	N	0.974651	P	0.42556	0.783	P	0.49637	0.617	T	0.04509	-1.0946	10	0.56958	D	0.05	-3.585	4.3932	0.11350	0.1825:0.5773:0.0:0.2402	.	722	Q92995	UBP13_HUMAN	C	722;657	ENSP00000263966:S722C;ENSP00000417146:S657C	ENSP00000263966:S722C	S	+	2	0	USP13	180964556	1.000000	0.71417	0.996000	0.52242	0.974000	0.67602	0.965000	0.29319	1.495000	0.48549	0.591000	0.81541	TCT		0.502	USP13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349617.1			31	98	0	0	0	0	31	98				
TP63	8626	broad.mit.edu	37	3	189582183	189582183	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr3:189582183G>A	ENST00000264731.3	+	5	831	c.742G>A	c.(742-744)Gag>Aag	p.E248K	TP63_ENST00000449992.1_Missense_Mutation_p.E69K|TP63_ENST00000354600.5_Missense_Mutation_p.E154K|TP63_ENST00000392461.3_Missense_Mutation_p.E154K|TP63_ENST00000392463.2_Missense_Mutation_p.E154K|TP63_ENST00000456148.1_Missense_Mutation_p.E154K|TP63_ENST00000437221.1_Missense_Mutation_p.E154K|TP63_ENST00000382063.4_Missense_Mutation_p.E163K|TP63_ENST00000392460.3_Missense_Mutation_p.E248K|TP63_ENST00000440651.2_Missense_Mutation_p.E248K|TP63_ENST00000418709.2_Missense_Mutation_p.E248K|TP63_ENST00000320472.5_Missense_Mutation_p.E248K	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	tumor protein p63	248					apoptotic process (GO:0006915)|cell aging (GO:0007569)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|chromatin remodeling (GO:0006338)|cloacal septation (GO:0060197)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|ectoderm and mesoderm interaction (GO:0007499)|embryonic limb morphogenesis (GO:0030326)|epidermal cell division (GO:0010481)|epithelial cell development (GO:0002064)|establishment of planar polarity (GO:0001736)|establishment of skin barrier (GO:0061436)|female genitalia morphogenesis (GO:0048807)|hair follicle morphogenesis (GO:0031069)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|keratinocyte differentiation (GO:0030216)|keratinocyte proliferation (GO:0043616)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organismal aging (GO:0010259)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular senescence (GO:2000773)|negative regulation of keratinocyte differentiation (GO:0045617)|negative regulation of mesoderm development (GO:2000381)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|polarized epithelial cell differentiation (GO:0030859)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell cycle G1/S phase transition (GO:1902808)|positive regulation of fibroblast apoptotic process (GO:2000271)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-anal tail morphogenesis (GO:0036342)|prostatic bud formation (GO:0060513)|protein homotetramerization (GO:0051289)|proximal/distal pattern formation (GO:0009954)|regulation of epidermal cell division (GO:0010482)|regulation of neuron apoptotic process (GO:0043523)|response to gamma radiation (GO:0010332)|response to X-ray (GO:0010165)|skeletal system development (GO:0001501)|smooth muscle tissue development (GO:0048745)|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development (GO:0060529)|sympathetic nervous system development (GO:0048485)|urinary bladder development (GO:0060157)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|p53 binding (GO:0002039)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region DNA binding (GO:0044212)|WW domain binding (GO:0050699)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		CCCCAACCATGAGCTGAGCCG	0.517										HNSCC(45;0.13)																												uc003fry.2		NA																	0				skin(5)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	12						c.(742-744)GAG>AAG		tumor protein p63 isoform 1							72.0	71.0	71.0					3																	189582183		2203	4300	6503	SO:0001583	missense	8626	Hay-Wells_syndrome			anti-apoptosis|cellular response to UV|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|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray	chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr3:189582183G>A	AB010153	CCDS3293.1, CCDS46976.1, CCDS46977.1, CCDS46978.1, CCDS46979.1, CCDS46980.1	3q27-q29	2014-09-17			ENSG00000073282	ENSG00000073282			15979	protein-coding gene	gene with protein product		603273	"""tumor protein p73-like"", ""tumor protein p53-like"", ""tumor protein p53-competing protein"""	TP73L, TP53L, TP53CP		9774969, 9662378, 11181441, 11181451	Standard	NM_003722		Approved	p51, SHFM4, EEC3, p63, p73L, OFC8, KET, p73H, NBP, p53CP	uc003fry.2	Q9H3D4	OTTHUMG00000156313	ENST00000264731.3:c.742G>A	3.37:g.189582183G>A	ENSP00000264731:p.Glu248Lys	HNSCC(45;0.13)				TP63_uc003frx.2_Missense_Mutation_p.E248K|TP63_uc003frz.2_Missense_Mutation_p.E248K|TP63_uc010hzc.1_Missense_Mutation_p.E248K|TP63_uc003fsa.2_Missense_Mutation_p.E154K|TP63_uc003fsb.2_Missense_Mutation_p.E154K|TP63_uc003fsc.2_Missense_Mutation_p.E154K|TP63_uc003fsd.2_Missense_Mutation_p.E154K|TP63_uc010hzd.1_Missense_Mutation_p.E69K|TP63_uc003fse.1_Missense_Mutation_p.E129K	p.E248K	NM_003722	NP_003713	Q9H3D4	P63_HUMAN	Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)	5	831	+	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		248					O75080|O75195|O75922|O76078|Q6VEG2|Q6VEG3|Q6VEG4|Q6VFJ1|Q6VFJ2|Q6VFJ3|Q6VH20|Q7LDI3|Q7LDI4|Q7LDI5|Q96KR0|Q9H3D2|Q9H3D3|Q9H3P8|Q9NPH7|Q9P1B4|Q9P1B5|Q9P1B6|Q9P1B7|Q9UBV9|Q9UE10|Q9UP26|Q9UP27|Q9UP28|Q9UP74	Missense_Mutation	SNP	ENST00000264731.3	37	c.742G>A	CCDS3293.1	.	.	.	.	.	.	.	.	.	.	G	33	5.266610	0.95399	.	.	ENSG00000073282	ENST00000264731;ENST00000418709;ENST00000320472;ENST00000392460;ENST00000440651;ENST00000382063;ENST00000354600;ENST00000437221;ENST00000392463;ENST00000392461;ENST00000449992;ENST00000456148	D;D;D;D;D;D;D;D;D;D;D;D	0.99784	-6.74;-6.74;-6.74;-6.74;-6.74;-6.74;-6.74;-6.74;-6.74;-6.74;-6.74;-6.74	5.85	5.85	0.93711	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99444	0.9803	L	0.47716	1.5	0.80722	D	1	B;B;B;B;B;B;B;B;P;P	0.38020	0.261;0.417;0.417;0.261;0.261;0.067;0.082;0.251;0.615;0.561	B;B;B;B;B;B;B;B;P;P	0.50109	0.133;0.346;0.346;0.133;0.133;0.062;0.102;0.346;0.631;0.498	D	0.99913	1.1213	9	.	.	.	-10.287	19.1612	0.93533	0.0:0.0:1.0:0.0	.	69;248;248;154;154;154;154;248;248;248	Q9H3D4-10;Q9H3D4-7;Q9H3D4-11;Q9H3D4-4;Q9H3D4-2;Q9H3D4-6;C9D7C9;Q9H3D4-3;Q9H3D4;Q9H3D4-5	.;.;.;.;.;.;.;.;P63_HUMAN;.	K	248;248;248;248;248;163;154;154;154;154;69;154	ENSP00000264731:E248K;ENSP00000407144:E248K;ENSP00000317510:E248K;ENSP00000376253:E248K;ENSP00000394337:E248K;ENSP00000371495:E163K;ENSP00000346614:E154K;ENSP00000392488:E154K;ENSP00000376256:E154K;ENSP00000376254:E154K;ENSP00000387839:E69K;ENSP00000389485:E154K	.	E	+	1	0	TP63	191064877	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	9.869000	0.99810	2.768000	0.95171	0.655000	0.94253	GAG		0.517	TP63-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000343865.1	NM_003722		25	64	0	0	0	0	25	64				
TP63	8626	broad.mit.edu	37	3	189586432	189586432	+	Silent	SNP	G	G	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr3:189586432G>A	ENST00000264731.3	+	8	1145	c.1056G>A	c.(1054-1056)agG>agA	p.R352R	TP63_ENST00000449992.1_Silent_p.R173R|TP63_ENST00000354600.5_Silent_p.R258R|TP63_ENST00000392461.3_Silent_p.R258R|TP63_ENST00000392463.2_Silent_p.R258R|TP63_ENST00000456148.1_Silent_p.R258R|TP63_ENST00000437221.1_Silent_p.R258R|TP63_ENST00000382063.4_Silent_p.R267R|TP63_ENST00000392460.3_Silent_p.R352R|TP63_ENST00000440651.2_Silent_p.R352R|TP63_ENST00000418709.2_Silent_p.R352R|TP63_ENST00000320472.5_Silent_p.R352R	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	tumor protein p63	352	Interaction with HIPK2.		R -> G (in EDRH and OFC8). {ECO:0000269|PubMed:16740912}.		apoptotic process (GO:0006915)|cell aging (GO:0007569)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|chromatin remodeling (GO:0006338)|cloacal septation (GO:0060197)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|ectoderm and mesoderm interaction (GO:0007499)|embryonic limb morphogenesis (GO:0030326)|epidermal cell division (GO:0010481)|epithelial cell development (GO:0002064)|establishment of planar polarity (GO:0001736)|establishment of skin barrier (GO:0061436)|female genitalia morphogenesis (GO:0048807)|hair follicle morphogenesis (GO:0031069)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|keratinocyte differentiation (GO:0030216)|keratinocyte proliferation (GO:0043616)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organismal aging (GO:0010259)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular senescence (GO:2000773)|negative regulation of keratinocyte differentiation (GO:0045617)|negative regulation of mesoderm development (GO:2000381)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|polarized epithelial cell differentiation (GO:0030859)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell cycle G1/S phase transition (GO:1902808)|positive regulation of fibroblast apoptotic process (GO:2000271)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-anal tail morphogenesis (GO:0036342)|prostatic bud formation (GO:0060513)|protein homotetramerization (GO:0051289)|proximal/distal pattern formation (GO:0009954)|regulation of epidermal cell division (GO:0010482)|regulation of neuron apoptotic process (GO:0043523)|response to gamma radiation (GO:0010332)|response to X-ray (GO:0010165)|skeletal system development (GO:0001501)|smooth muscle tissue development (GO:0048745)|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development (GO:0060529)|sympathetic nervous system development (GO:0048485)|urinary bladder development (GO:0060157)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|p53 binding (GO:0002039)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region DNA binding (GO:0044212)|WW domain binding (GO:0050699)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		GAAGAGACAGGAAGGCGGATG	0.502										HNSCC(45;0.13)																												uc003fry.2		NA																	0				skin(5)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	12						c.(1054-1056)AGG>AGA		tumor protein p63 isoform 1							91.0	89.0	90.0					3																	189586432		2203	4300	6503	SO:0001819	synonymous_variant	8626	Hay-Wells_syndrome			anti-apoptosis|cellular response to UV|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|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray	chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr3:189586432G>A	AB010153	CCDS3293.1, CCDS46976.1, CCDS46977.1, CCDS46978.1, CCDS46979.1, CCDS46980.1	3q27-q29	2014-09-17			ENSG00000073282	ENSG00000073282			15979	protein-coding gene	gene with protein product		603273	"""tumor protein p73-like"", ""tumor protein p53-like"", ""tumor protein p53-competing protein"""	TP73L, TP53L, TP53CP		9774969, 9662378, 11181441, 11181451	Standard	NM_003722		Approved	p51, SHFM4, EEC3, p63, p73L, OFC8, KET, p73H, NBP, p53CP	uc003fry.2	Q9H3D4	OTTHUMG00000156313	ENST00000264731.3:c.1056G>A	3.37:g.189586432G>A		HNSCC(45;0.13)				TP63_uc003frx.2_Silent_p.R352R|TP63_uc003frz.2_Silent_p.R352R|TP63_uc010hzc.1_Silent_p.R352R|TP63_uc003fsa.2_Silent_p.R258R|TP63_uc003fsb.2_Silent_p.R258R|TP63_uc003fsc.2_Silent_p.R258R|TP63_uc003fsd.2_Silent_p.R258R|TP63_uc010hzd.1_Silent_p.R173R|TP63_uc003fse.1_Silent_p.R233R	p.R352R	NM_003722	NP_003713	Q9H3D4	P63_HUMAN	Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)	8	1145	+	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		352		R -> G (in EDRH and OFC8).	|Interaction with HIPK2.		O75080|O75195|O75922|O76078|Q6VEG2|Q6VEG3|Q6VEG4|Q6VFJ1|Q6VFJ2|Q6VFJ3|Q6VH20|Q7LDI3|Q7LDI4|Q7LDI5|Q96KR0|Q9H3D2|Q9H3D3|Q9H3P8|Q9NPH7|Q9P1B4|Q9P1B5|Q9P1B6|Q9P1B7|Q9UBV9|Q9UE10|Q9UP26|Q9UP27|Q9UP28|Q9UP74	Silent	SNP	ENST00000264731.3	37	c.1056G>A	CCDS3293.1																																																																																				0.502	TP63-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000343865.1	NM_003722		17	66	0	0	0	0	17	66				
PIGZ	80235	broad.mit.edu	37	3	196674441	196674441	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr3:196674441C>G	ENST00000412723.1	-	3	1473	c.1327G>C	c.(1327-1329)Gag>Cag	p.E443Q		NM_025163.2	NP_079439.2	Q86VD9	PIGZ_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class Z	443					GPI anchor biosynthetic process (GO:0006506)|mannosylation (GO:0097502)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	alpha-1,2-mannosyltransferase activity (GO:0000026)|mannosyltransferase activity (GO:0000030)			breast(1)|endometrium(1)|lung(7)|ovary(3)|prostate(1)|urinary_tract(1)	14	all_cancers(143;1.05e-08)|Ovarian(172;0.0634)|Breast(254;0.0838)		Epithelial(36;4.29e-24)|all cancers(36;2.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00603)		ACCACCTGCTCCAGGTACTCC	0.647																																						uc003fxh.2		NA																	0				ovary(3)	3						c.(1327-1329)GAG>CAG		phosphatidylinositol glycan anchor biosynthesis,							56.0	51.0	53.0					3																	196674441		2203	4300	6503	SO:0001583	missense	80235				GPI anchor biosynthetic process	integral to membrane|intrinsic to endoplasmic reticulum membrane	alpha-1,2-mannosyltransferase activity	g.chr3:196674441C>G	BC018804	CCDS3324.1	3q29	2013-02-26	2006-06-28		ENSG00000119227	ENSG00000119227		"""Dolichyl D-mannosyl phosphate dependent mannosyltransferases"", ""Phosphatidylinositol glycan anchor biosynthesis"""	30596	protein-coding gene	gene with protein product	"""GPI mannosyltransferase 4"", ""dol-P-Man dependent GPI mannosyltransferase"""	611671	"""phosphatidylinositol glycan, class Z"""			15208306	Standard	NM_025163		Approved	FLJ12768, MGC52163, SMP3	uc003fxh.3	Q86VD9	OTTHUMG00000155522	ENST00000412723.1:c.1327G>C	3.37:g.196674441C>G	ENSP00000413405:p.Glu443Gln						p.E443Q	NM_025163	NP_079439	Q86VD9	PIGZ_HUMAN	Epithelial(36;4.29e-24)|all cancers(36;2.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00603)	3	1474	-	all_cancers(143;1.05e-08)|Ovarian(172;0.0634)|Breast(254;0.0838)		443					Q9H9G6	Missense_Mutation	SNP	ENST00000412723.1	37	c.1327G>C	CCDS3324.1	.	.	.	.	.	.	.	.	.	.	C	11.84	1.759030	0.31137	.	.	ENSG00000119227	ENST00000412723	T	0.64260	-0.09	4.84	3.8	0.43715	.	0.000000	0.53938	D	0.000053	T	0.46927	0.1418	L	0.48174	1.505	0.80722	D	1	P	0.34934	0.476	B	0.32393	0.145	T	0.28364	-1.0046	10	0.15952	T	0.53	-18.147	6.455	0.21924	0.0:0.7073:0.1715:0.1212	.	443	Q86VD9	PIGZ_HUMAN	Q	443	ENSP00000413405:E443Q	ENSP00000413405:E443Q	E	-	1	0	PIGZ	198158838	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	2.509000	0.45459	0.936000	0.37367	0.561000	0.74099	GAG		0.647	PIGZ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340486.2	NM_025163		4	46	0	0	0	0	4	46				
BDH1	622	broad.mit.edu	37	3	197259341	197259341	+	Missense_Mutation	SNP	G	G	A	rs541287538		TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr3:197259341G>A	ENST00000392378.2	-	4	519	c.209C>T	c.(208-210)tCa>tTa	p.S70L	BDH1_ENST00000358186.2_Missense_Mutation_p.S70L|BDH1_ENST00000392379.1_Missense_Mutation_p.S70L|BDH1_ENST00000441275.1_5'UTR	NM_004051.4	NP_004042.1	Q02338	BDH_HUMAN	3-hydroxybutyrate dehydrogenase, type 1	70				S -> A (in Ref. 3; AAH11964). {ECO:0000305}.	adipose tissue development (GO:0060612)|brain development (GO:0007420)|cellular ketone body metabolic process (GO:0046950)|cellular lipid metabolic process (GO:0044255)|ketone body biosynthetic process (GO:0046951)|ketone body catabolic process (GO:0046952)|liver development (GO:0001889)|response to cadmium ion (GO:0046686)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to growth hormone (GO:0060416)|response to insulin (GO:0032868)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	3-hydroxybutyrate dehydrogenase activity (GO:0003858)|phospholipid binding (GO:0005543)			endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)	11	all_cancers(143;3.35e-10)|Ovarian(172;0.0418)|Breast(254;0.0437)	Lung NSC(153;0.118)	Epithelial(36;3.52e-24)|all cancers(36;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;2.32e-19)|LUSC - Lung squamous cell carcinoma(58;1.02e-06)|Lung(62;1.34e-06)	GBM - Glioblastoma multiforme(93;0.0977)		CTTGGCCAATGAGAACCCAAA	0.473													G|||	1	0.000199681	0.0	0.0014	5008	,	,		23952	0.0		0.0	False		,,,				2504	0.0					uc003fxr.2		NA																	0				ovary(1)	1						c.(208-210)TCA>TTA		3-hydroxybutyrate dehydrogenase, type 1	NADH(DB00157)						125.0	116.0	119.0					3																	197259341		2203	4300	6503	SO:0001583	missense	622				cellular lipid metabolic process|ketone body biosynthetic process|ketone body catabolic process	mitochondrial matrix	3-hydroxybutyrate dehydrogenase activity	g.chr3:197259341G>A	M93107	CCDS3328.1	3q29	2011-09-14	2005-11-15	2005-11-15	ENSG00000161267	ENSG00000161267	1.1.1.30	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	1027	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 9C, member 1"""	603063	"""3-hydroxybutyrate dehydrogenase (heart, mitochondrial)"""	BDH		1639787, 19027726	Standard	XM_005269352		Approved	SDR9C1	uc003fxs.3	Q02338	OTTHUMG00000155478	ENST00000392378.2:c.209C>T	3.37:g.197259341G>A	ENSP00000376183:p.Ser70Leu					BDH1_uc003fxs.2_Missense_Mutation_p.S70L|BDH1_uc003fxt.2_5'UTR|BDH1_uc003fxu.2_Missense_Mutation_p.S70L	p.S70L	NM_203314	NP_976059	Q02338	BDH_HUMAN	Epithelial(36;3.52e-24)|all cancers(36;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;2.32e-19)|LUSC - Lung squamous cell carcinoma(58;1.02e-06)|Lung(62;1.34e-06)	GBM - Glioblastoma multiforme(93;0.0977)	5	611	-	all_cancers(143;3.35e-10)|Ovarian(172;0.0418)|Breast(254;0.0437)	Lung NSC(153;0.118)	70	S -> A (in Ref. 3; AAH11964).		NAD (By similarity).		D3DXC0|Q96ET1|Q9BRZ4	Missense_Mutation	SNP	ENST00000392378.2	37	c.209C>T	CCDS3328.1	.	.	.	.	.	.	.	.	.	.	G	12.10	1.836215	0.32421	.	.	ENSG00000161267	ENST00000392378;ENST00000358186;ENST00000392379;ENST00000434143;ENST00000432819;ENST00000431056	D;D;D;T;T;T	0.92911	-3.13;-3.13;-3.13;0.73;0.73;0.73	5.22	4.32	0.51571	NAD(P)-binding domain (1);	0.231983	0.44285	D	0.000468	T	0.81809	0.4901	N	0.04335	-0.225	0.42561	D	0.993147	B	0.06786	0.001	B	0.11329	0.006	T	0.75690	-0.3230	10	0.27785	T	0.31	.	13.6635	0.62380	0.0:0.1565:0.8435:0.0	.	70	Q02338	BDH_HUMAN	L	70;70;70;51;70;70	ENSP00000376183:S70L;ENSP00000350914:S70L;ENSP00000376184:S70L;ENSP00000408685:S51L;ENSP00000409849:S70L;ENSP00000396149:S70L	ENSP00000350914:S70L	S	-	2	0	BDH1	198743738	1.000000	0.71417	0.939000	0.37840	0.734000	0.41952	4.505000	0.60421	1.286000	0.44565	0.650000	0.86243	TCA		0.473	BDH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340267.1	NM_004051		10	42	0	0	0	0	10	42				
MXD4	10608	broad.mit.edu	37	4	2259719	2259719	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr4:2259719C>G	ENST00000337190.2	-	3	497	c.184G>C	c.(184-186)Gaa>Caa	p.E62Q	MXD4_ENST00000515378.1_5'UTR	NM_006454.2	NP_006445.1	Q14582	MAD4_HUMAN	MAX dimerization protein 4	62	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|transcription corepressor activity (GO:0003714)			breast(1)|endometrium(1)|kidney(1)|lung(3)	6						CTGTGCTTTTCTAGCTCGTTG	0.582																																						uc003geu.1		NA																	0					0						c.(184-186)GAA>CAA		MAD4							117.0	105.0	109.0					4																	2259719		2200	4300	6500	SO:0001583	missense	10608				negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|transcription corepressor activity	g.chr4:2259719C>G		CCDS3361.1	4p16.3	2008-08-19			ENSG00000123933	ENSG00000123933		"""MAX dimerization proteins"", ""Basic helix-loop-helix proteins"""	13906	protein-coding gene	gene with protein product						8521822	Standard	NM_006454		Approved	MAD4, MSTP149, MST149, bHLHc12	uc003geu.1	Q14582	OTTHUMG00000090243	ENST00000337190.2:c.184G>C	4.37:g.2259719C>G	ENSP00000337889:p.Glu62Gln					MXD4_uc003gev.1_RNA	p.E62Q	NM_006454	NP_006445	Q14582	MAD4_HUMAN			3	216	-			62			Basic motif.		A2A335|Q5TZX4	Missense_Mutation	SNP	ENST00000337190.2	37	c.184G>C	CCDS3361.1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.825257	0.90955	.	.	ENSG00000123933	ENST00000337190	D	0.99875	-7.4	4.83	4.83	0.62350	Helix-loop-helix DNA-binding (5);	0.057000	0.64402	D	0.000001	D	0.99789	0.9911	M	0.86343	2.81	0.80722	D	1	P	0.51057	0.941	P	0.53313	0.723	D	0.96858	0.9630	10	0.72032	D	0.01	-8.4552	16.6602	0.85238	0.0:1.0:0.0:0.0	.	62	Q14582	MAD4_HUMAN	Q	62	ENSP00000337889:E62Q	ENSP00000337889:E62Q	E	-	1	0	MXD4	2229517	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.871000	0.69628	2.502000	0.84385	0.655000	0.94253	GAA		0.582	MXD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206519.1	NM_006454		13	47	0	0	0	0	13	47				
LDB2	9079	broad.mit.edu	37	4	16590367	16590367	+	Missense_Mutation	SNP	C	C	A	rs142034467		TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr4:16590367C>A	ENST00000304523.5	-	4	820	c.497G>T	c.(496-498)cGa>cTa	p.R166L	LDB2_ENST00000503829.1_5'UTR|LDB2_ENST00000515064.1_Missense_Mutation_p.R166L|LDB2_ENST00000441778.2_Missense_Mutation_p.R166L|LDB2_ENST00000502640.1_Missense_Mutation_p.R166L|LDB2_ENST00000503178.2_Missense_Mutation_p.R42L	NM_001290.3	NP_001281.1	O43679	LDB2_HUMAN	LIM domain binding 2	166					epithelial structure maintenance (GO:0010669)|hair follicle development (GO:0001942)|positive regulation of cellular component biogenesis (GO:0044089)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|somatic stem cell maintenance (GO:0035019)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	LIM domain binding (GO:0030274)|transcription cofactor activity (GO:0003712)			breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(23)|urinary_tract(1)	33						GACTAACTCTCGGTATTGTCT	0.393																																						uc003goz.2		NA																	0					0						c.(496-498)CGA>CTA		LIM domain binding 2 isoform a							204.0	178.0	187.0					4																	16590367		2203	4300	6503	SO:0001583	missense	9079						LIM domain binding|transcription cofactor activity	g.chr4:16590367C>A	AF068651	CCDS3420.1, CCDS47031.1	4p16	2008-08-01			ENSG00000169744	ENSG00000169744			6533	protein-coding gene	gene with protein product		603450				9853615, 9880598, 10861853	Standard	NM_001290		Approved	CLIM1, LDB1	uc003goz.3	O43679	OTTHUMG00000048212	ENST00000304523.5:c.497G>T	4.37:g.16590367C>A	ENSP00000306772:p.Arg166Leu					LDB2_uc003gpa.2_Missense_Mutation_p.R166L|LDB2_uc003gpb.2_Missense_Mutation_p.R166L|LDB2_uc011bxh.1_Missense_Mutation_p.R166L|LDB2_uc010iee.2_Missense_Mutation_p.R166L|LDB2_uc003goy.2_Missense_Mutation_p.R42L|LDB2_uc011bxi.1_Missense_Mutation_p.R42L	p.R166L	NM_001290	NP_001281	O43679	LDB2_HUMAN			4	813	-			166					O60619|O75480	Missense_Mutation	SNP	ENST00000304523.5	37	c.497G>T	CCDS3420.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	31|31	5.084455|5.084455	0.94100|0.94100	.|.	.|.	ENSG00000169744|ENSG00000169744	ENST00000507464|ENST00000515064;ENST00000441778;ENST00000304523;ENST00000502640;ENST00000503178;ENST00000506732	.|.	.|.	.|.	5.36|5.36	5.36|5.36	0.76844|0.76844	.|.	.|0.000000	.|0.64402	.|D	.|0.000003	.|T	.|0.78761	.|0.4334	M|M	0.70275|0.70275	2.135|2.135	0.80722|0.80722	D|D	1|1	.|D;D;B;B;B;P;P	.|0.64830	.|0.99;0.994;0.105;0.032;0.086;0.949;0.875	.|D;D;B;B;B;P;P	.|0.74023	.|0.931;0.982;0.102;0.016;0.062;0.887;0.584	.|T	.|0.78996	.|-0.1983	.|9	.|0.52906	.|T	.|0.07	-12.216|-12.216	18.4277|18.4277	0.90614|0.90614	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|42;132;166;166;166;166;142	.|B7Z2D3;B7Z6D0;E9PFI4;G5E9Y7;O43679-2;O43679;O43679-3	.|.;.;.;.;.;LDB2_HUMAN;.	X|L	88|166;166;166;166;42;142	.|.	.|ENSP00000306772:R166L	E|R	-|-	1|2	0|0	LDB2|LDB2	16199465|16199465	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	7.776000|7.776000	0.85560|0.85560	2.672000|2.672000	0.90937|0.90937	0.655000|0.655000	0.94253|0.94253	GAG|CGA		0.393	LDB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250321.2			26	71	1	0	7.26e-15	7.76e-15	26	71				
APBB2	323	broad.mit.edu	37	4	41016114	41016114	+	Silent	SNP	G	G	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr4:41016114G>A	ENST00000295974.8	-	6	950	c.321C>T	c.(319-321)ctC>ctT	p.L107L	APBB2_ENST00000506352.1_Silent_p.L107L|APBB2_ENST00000513140.1_Silent_p.L107L|APBB2_ENST00000508593.1_Silent_p.L107L	NM_001166050.1|NM_004307.1	NP_001159522.1|NP_004298.1	Q92870	APBB2_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 2	107					axon guidance (GO:0007411)|cell cycle arrest (GO:0007050)|extracellular matrix organization (GO:0030198)|intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|membrane (GO:0016020)|nucleus (GO:0005634)|synapse (GO:0045202)	beta-amyloid binding (GO:0001540)|transcription factor binding (GO:0008134)			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|skin(2)|urinary_tract(1)	34						CAGCCTTACGGAGCTGGTTCT	0.562																																					Ovarian(3;20 75 16686 49997)	uc003gvl.2		NA																	0				ovary(2)|large_intestine(1)	3						c.(319-321)CTC>CTT		amyloid beta A4 precursor protein-binding,							91.0	86.0	87.0					4																	41016114		1946	4156	6102	SO:0001819	synonymous_variant	323				cell cycle arrest|intracellular signal transduction|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|regulation of transcription, DNA-dependent	growth cone|lamellipodium|membrane|nucleus|synapse	beta-amyloid binding|transcription factor binding	g.chr4:41016114G>A	U62325	CCDS43224.1, CCDS54760.1, CCDS54761.1, CCDS54762.1	4p13	2011-10-10	2008-07-31		ENSG00000163697	ENSG00000163697			582	protein-coding gene	gene with protein product	"""Fe65-like"""	602710				8955346, 9585438	Standard	NM_173075		Approved	FE65L, FE65L1, MGC35575	uc003gvn.3	Q92870	OTTHUMG00000160416	ENST00000295974.8:c.321C>T	4.37:g.41016114G>A						APBB2_uc003gvm.2_Silent_p.L107L|APBB2_uc003gvn.2_Silent_p.L107L|APBB2_uc011byt.1_Silent_p.L90L	p.L107L	NM_173075	NP_775098	Q92870	APBB2_HUMAN			6	951	-			107					B4DSL4|E9PG87|Q8IUI6	Silent	SNP	ENST00000295974.8	37	c.321C>T	CCDS54761.1	.	.	.	.	.	.	.	.	.	.	G	7.915	0.737405	0.15574	.	.	ENSG00000163697	ENST00000513611	.	.	.	5.06	4.22	0.49857	.	.	.	.	.	T	0.60586	0.2280	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.57631	-0.7778	4	.	.	.	-17.4727	10.2266	0.43229	0.0782:0.2696:0.6522:0.0	.	.	.	.	S	97	.	.	P	-	1	0	APBB2	40710871	0.987000	0.35691	1.000000	0.80357	0.963000	0.63663	0.183000	0.16919	1.120000	0.41904	-0.254000	0.11334	CCG		0.562	APBB2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000360523.3	NM_173075		23	70	0	0	0	0	23	70				
KCTD8	386617	broad.mit.edu	37	4	44176989	44176989	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr4:44176989G>C	ENST00000360029.3	-	2	1523	c.1240C>G	c.(1240-1242)Cag>Gag	p.Q414E		NM_198353.2	NP_938167.1	Q6ZWB6	KCTD8_HUMAN	potassium channel tetramerization domain containing 8	414					protein homooligomerization (GO:0051260)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)				central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(3)|upper_aerodigestive_tract(4)	41						ATGAGGGTCTGAAAGAGTTCA	0.428										HNSCC(17;0.042)																												uc003gwu.2		NA																	0				central_nervous_system(2)|ovary(1)	3						c.(1240-1242)CAG>GAG		potassium channel tetramerisation domain							219.0	227.0	224.0					4																	44176989		2203	4300	6503	SO:0001583	missense	386617					cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr4:44176989G>C	AK123347	CCDS3467.1	4p13	2013-06-20	2013-06-20		ENSG00000183783	ENSG00000183783			22394	protein-coding gene	gene with protein product			"""potassium channel tetramerisation domain containing 8"""				Standard	NM_198353		Approved		uc003gwu.3	Q6ZWB6	OTTHUMG00000099409	ENST00000360029.3:c.1240C>G	4.37:g.44176989G>C	ENSP00000353129:p.Gln414Glu	HNSCC(17;0.042)					p.Q414E	NM_198353	NP_938167	Q6ZWB6	KCTD8_HUMAN			2	1524	-			414					A2RU39	Missense_Mutation	SNP	ENST00000360029.3	37	c.1240C>G	CCDS3467.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.27|13.27	2.186284|2.186284	0.38609|0.38609	.|.	.|.	ENSG00000183783|ENSG00000183783	ENST00000515268|ENST00000360029	T|T	0.37915|0.37584	1.17|1.19	4.76|4.76	4.76|4.76	0.60689|0.60689	.|.	.|0.000000	.|0.48767	.|D	.|0.000180	T|T	0.24812|0.24812	0.0602|0.0602	N|N	0.19112|0.19112	0.55|0.55	0.39225|0.39225	D|D	0.963578|0.963578	.|P	.|0.41188	.|0.741	.|B	.|0.33799	.|0.17	T|T	0.26018|0.26018	-1.0115|-1.0115	7|10	0.02654|0.72032	T|D	1|0.01	.|.	17.2866|17.2866	0.87143|0.87143	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|414	.|Q6ZWB6	.|KCTD8_HUMAN	L|E	149|414	ENSP00000424862:F149L|ENSP00000353129:Q414E	ENSP00000424862:F149L|ENSP00000353129:Q414E	F|Q	-|-	3|1	2|0	KCTD8|KCTD8	43871746|43871746	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.032000|0.032000	0.12392|0.12392	7.144000|7.144000	0.77357|0.77357	2.622000|2.622000	0.88805|0.88805	0.650000|0.650000	0.86243|0.86243	TTC|CAG		0.428	KCTD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216868.1			77	247	0	0	0	0	77	247				
LNX1	84708	broad.mit.edu	37	4	54364928	54364928	+	Silent	SNP	G	G	C			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr4:54364928G>C	ENST00000263925.7	-	5	1172	c.858C>G	c.(856-858)ctC>ctG	p.L286L	LNX1-AS1_ENST00000502373.1_RNA|LNX1_ENST00000306888.2_Silent_p.L190L|FIP1L1_ENST00000507166.1_Intron|LNX1-AS1_ENST00000510785.1_RNA	NM_001126328.2	NP_001119800.1	Q8TBB1	LNX1_HUMAN	ligand of numb-protein X 1, E3 ubiquitin protein ligase	286	PDZ 1. {ECO:0000255|PROSITE- ProRule:PRU00143}.				protein homooligomerization (GO:0051260)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|endometrium(3)|large_intestine(11)|lung(6)|ovary(3)|urinary_tract(4)	32	all_neural(26;0.153)		GBM - Glioblastoma multiforme(3;8.2e-46)|LUSC - Lung squamous cell carcinoma(32;0.0134)			GCCTAATAGAGAGGCTTTCAC	0.483																																						uc003hag.3		NA																	0				ovary(2)|central_nervous_system(2)	4						c.(856-858)CTC>CTG		ligand of numb-protein X 1 isoform a							104.0	90.0	95.0					4																	54364928		2203	4300	6503	SO:0001819	synonymous_variant	84708					cytoplasm	zinc ion binding	g.chr4:54364928G>C	AF237782	CCDS3492.1, CCDS47057.1	4q12	2013-01-09	2012-02-23	2005-11-04	ENSG00000072201	ENSG00000072201		"""RING-type (C3HC4) zinc fingers"""	6657	protein-coding gene	gene with protein product		609732	"""ligand of numb-protein X"", ""ligand of numb-protein X 1"""	LNX		11521506, 11782429	Standard	NM_032622		Approved	MPDZ, PDZRN2	uc003hag.5	Q8TBB1	OTTHUMG00000102099	ENST00000263925.7:c.858C>G	4.37:g.54364928G>C						PDGFRA_uc003haa.2_Intron|LNX1_uc003haf.3_Silent_p.L190L|LNX1_uc003hah.3_Intron	p.L286L	NM_001126328	NP_001119800	Q8TBB1	LNX1_HUMAN	GBM - Glioblastoma multiforme(3;8.2e-46)|LUSC - Lung squamous cell carcinoma(32;0.0134)		5	1114	-	all_neural(26;0.153)		286			PDZ 1.		Q4W5K7|Q8N4C2|Q96MJ7|Q9BY20	Silent	SNP	ENST00000263925.7	37	c.858C>G	CCDS47057.1																																																																																				0.483	LNX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219934.2			21	60	0	0	0	0	21	60				
EPHA5	2044	broad.mit.edu	37	4	66217204	66217204	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr4:66217204C>T	ENST00000273854.3	-	14	3011	c.2411G>A	c.(2410-2412)aGa>aAa	p.R804K	EPHA5_ENST00000432638.2_Missense_Mutation_p.R641K|EPHA5_ENST00000511294.1_Missense_Mutation_p.R805K|EPHA5_ENST00000354839.4_Missense_Mutation_p.R782K	NM_001281765.1|NM_004439.5	NP_001268694.1|NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	804	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|cAMP-mediated signaling (GO:0019933)|ephrin receptor signaling pathway (GO:0048013)|hippocampus development (GO:0021766)|negative regulation of synapse assembly (GO:0051964)|neuron development (GO:0048666)|positive regulation of CREB transcription factor activity (GO:0032793)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of Rac GTPase activity (GO:0032314)	dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|GPI-linked ephrin receptor activity (GO:0005004)|transmembrane-ephrin receptor activity (GO:0005005)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						TAAGATGTTTCTGGCAGCAAG	0.473										TSP Lung(17;0.13)																												uc003hcy.2		NA																	0				lung(19)|stomach(2)|ovary(2)|central_nervous_system(1)	24						c.(2410-2412)AGA>AAA		ephrin receptor EphA5 isoform a precursor							141.0	119.0	126.0					4																	66217204		2203	4300	6503	SO:0001583	missense	2044				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity	g.chr4:66217204C>T	L36644	CCDS3513.1, CCDS3514.1, CCDS75131.1, CCDS75132.1, CCDS75133.1	4q13.1	2013-02-11	2004-10-28		ENSG00000145242	ENSG00000145242		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3389	protein-coding gene	gene with protein product		600004	"""EphA5"""			9267020, 7528718	Standard	NM_004439		Approved	Hek7, TYRO4, CEK7, EHK1	uc003hcy.3	P54756	OTTHUMG00000129273	ENST00000273854.3:c.2411G>A	4.37:g.66217204C>T	ENSP00000273854:p.Arg804Lys	TSP Lung(17;0.13)				EPHA5_uc003hcx.2_Missense_Mutation_p.R736K|EPHA5_uc003hcz.2_Missense_Mutation_p.R782K|EPHA5_uc011cah.1_Missense_Mutation_p.R805K|EPHA5_uc011cai.1_Missense_Mutation_p.R783K|EPHA5_uc003hda.2_Missense_Mutation_p.R805K	p.R804K	NM_004439	NP_004430	P54756	EPHA5_HUMAN			14	2604	-			804			Cytoplasmic (Potential).|Protein kinase.		Q7Z3F2	Missense_Mutation	SNP	ENST00000273854.3	37	c.2411G>A	CCDS3513.1	.	.	.	.	.	.	.	.	.	.	C	37	5.990557	0.97179	.	.	ENSG00000145242	ENST00000273854;ENST00000432638;ENST00000354839;ENST00000511294	D;D;D;D	0.86297	-2.1;-2.1;-2.1;-2.1	5.98	5.98	0.97165	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000004	D	0.94781	0.8315	M	0.87900	2.915	0.80722	D	1	D;D;D;D	0.59357	0.981;0.985;0.976;0.973	D;D;D;P	0.81914	0.995;0.968;0.991;0.903	D	0.94662	0.7849	10	0.87932	D	0	.	20.4366	0.99092	0.0:1.0:0.0:0.0	.	783;805;782;804	B7ZKW7;B7ZKJ3;P54756-2;P54756	.;.;.;EPHA5_HUMAN	K	804;641;782;805	ENSP00000273854:R804K;ENSP00000389208:R641K;ENSP00000346899:R782K;ENSP00000427638:R805K	ENSP00000273854:R804K	R	-	2	0	EPHA5	65899799	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	7.818000	0.86416	2.843000	0.97960	0.585000	0.79938	AGA		0.473	EPHA5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251388.2	NM_004439		18	65	0	0	0	0	18	65				
UBA6	55236	broad.mit.edu	37	4	68514899	68514899	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr4:68514899G>A	ENST00000322244.5	-	14	1194	c.1135C>T	c.(1135-1137)Ctc>Ttc	p.L379F		NM_018227.5	NP_060697.4	A0AVT1	UBA6_HUMAN	ubiquitin-like modifier activating enzyme 6	379					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						GTCCAAGAGAGCCAATGCACA	0.398																																						uc003hdg.3		NA																	0					0						c.(1135-1137)CTC>TTC		ubiquitin-activating enzyme E1-like 2							96.0	97.0	97.0					4																	68514899		2203	4300	6503	SO:0001583	missense	55236				protein ubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm	ATP binding|FAT10 activating enzyme activity|ligase activity|protein binding	g.chr4:68514899G>A	AK094164	CCDS3516.1	4q13.2	2008-02-05	2007-11-30	2007-11-30	ENSG00000033178	ENSG00000033178		"""Ubiquitin-like modifier activating enzymes"""	25581	protein-coding gene	gene with protein product	"""UBA6, ubiquitin-activating enzyme E1"""	611361	"""ubiquitin-activating enzyme E1-like 2"""	UBE1L2		17580310	Standard	NM_018227		Approved	FLJ10808	uc003hdg.4	A0AVT1	OTTHUMG00000129299	ENST00000322244.5:c.1135C>T	4.37:g.68514899G>A	ENSP00000313454:p.Leu379Phe					UBA6_uc003hdh.1_5'UTR	p.L379F	NM_018227	NP_060697	A0AVT1	UBA6_HUMAN			14	1187	-			379					A6N8M7|B2RAV3|Q4W5K0|Q6UV21|Q86T78|Q86TC7|Q8N5T3|Q8N9E4|Q9H3T7|Q9NVC9	Missense_Mutation	SNP	ENST00000322244.5	37	c.1135C>T	CCDS3516.1	.	.	.	.	.	.	.	.	.	.	G	8.200	0.797881	0.16327	.	.	ENSG00000033178	ENST00000322244	T	0.19669	2.13	5.08	5.08	0.68730	Molybdenum cofactor biosynthesis, MoeB (1);NAD(P)-binding domain (1);	0.062167	0.64402	D	0.000004	T	0.16854	0.0405	L	0.43598	1.365	0.80722	D	1	B	0.22909	0.077	B	0.23574	0.047	T	0.03852	-1.0998	10	0.08837	T	0.75	-11.3496	11.9066	0.52715	0.0815:0.0:0.9185:0.0	.	379	A0AVT1	UBA6_HUMAN	F	379	ENSP00000313454:L379F	ENSP00000313454:L379F	L	-	1	0	UBA6	68197494	1.000000	0.71417	1.000000	0.80357	0.233000	0.25261	2.396000	0.44468	2.525000	0.85131	0.484000	0.47621	CTC		0.398	UBA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251429.2	NM_018227		12	49	0	0	0	0	12	49				
UGT2B15	7366	broad.mit.edu	37	4	69535910	69535910	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr4:69535910C>T	ENST00000338206.5	-	1	436	c.427G>A	c.(427-429)Gag>Aag	p.E143K		NM_001076.3	NP_001067.2	P54855	UDB15_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B15	143					cellular glucuronidation (GO:0052695)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)									Acetaminophen(DB00316)|Dabigatran etexilate(DB06695)|Ezetimibe(DB00973)|Lorazepam(DB00186)|Morphine(DB00295)|Oxazepam(DB00842)|Valproic Acid(DB00313)	AACTTTGACTCTTGTAGTTTC	0.363																																						uc011cal.1		NA																	0					0						c.(427-429)GAG>AAG		UDP glycosyltransferase 2B15 precursor							186.0	193.0	191.0					4																	69535910		2203	4297	6500	SO:0001583	missense	7366				steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:69535910C>T	AF180322	CCDS3524.1	4q13	2008-02-05	2005-07-20		ENSG00000196620	ENSG00000196620		"""UDP glucuronosyltransferases"""	12546	protein-coding gene	gene with protein product		600069	"""UDP glycosyltransferase 2 family, polypeptide B15"""			7835904	Standard	NM_001076		Approved	UGT2B8	uc021xow.1	P54855	OTTHUMG00000161507	ENST00000338206.5:c.427G>A	4.37:g.69535910C>T	ENSP00000341045:p.Glu143Lys						p.E143K	NM_001076	NP_001067	P54855	UDB15_HUMAN			1	465	-			143					A6NDX0|A6NNJ4|A8K054|P23765|Q9UK63	Missense_Mutation	SNP	ENST00000338206.5	37	c.427G>A	CCDS3524.1	.	.	.	.	.	.	.	.	.	.	c	7.138	0.581208	0.13686	.	.	ENSG00000196620	ENST00000338206	T	0.62364	0.03	2.79	-0.908	0.10517	.	0.265776	0.30043	U	0.010559	T	0.49287	0.1548	L	0.57130	1.785	0.09310	N	1	B	0.20368	0.044	B	0.23852	0.049	T	0.37731	-0.9693	10	0.41790	T	0.15	.	3.4039	0.07333	0.0:0.2712:0.2194:0.5094	.	143	P54855	UDB15_HUMAN	K	143	ENSP00000341045:E143K	ENSP00000341045:E143K	E	-	1	0	UGT2B15	69218505	0.000000	0.05858	0.002000	0.10522	0.020000	0.10135	-0.200000	0.09478	-0.087000	0.12528	0.442000	0.29010	GAG		0.363	UGT2B15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365172.1	NM_001076		95	271	0	0	0	0	95	271				
UGT2A3	79799	broad.mit.edu	37	4	69816835	69816835	+	Missense_Mutation	SNP	G	G	A	rs138523993		TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr4:69816835G>A	ENST00000251566.4	-	1	674	c.644C>T	c.(643-645)tCa>tTa	p.S215L	UGT2A3_ENST00000420231.2_5'UTR	NM_024743.3	NP_079019.3	Q6UWM9	UD2A3_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A3	215					cellular glucuronidation (GO:0052695)	integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						GAACAAAACTGAAAGCATTGA	0.358																																						uc003hef.2		NA																	0				ovary(1)|skin(1)	2						c.(643-645)TCA>TTA		UDP glucuronosyltransferase 2 family,							50.0	52.0	51.0					4																	69816835		2203	4298	6501	SO:0001583	missense	79799					integral to membrane	glucuronosyltransferase activity	g.chr4:69816835G>A		CCDS3525.1	4q13.2	2010-12-14			ENSG00000135220	ENSG00000135220		"""UDP glucuronosyltransferases"""	28528	protein-coding gene	gene with protein product							Standard	NM_024743		Approved	FLJ21934	uc003hef.2	Q6UWM9	OTTHUMG00000129408	ENST00000251566.4:c.644C>T	4.37:g.69816835G>A	ENSP00000251566:p.Ser215Leu					UGT2A3_uc010ihp.1_RNA	p.S215L	NM_024743	NP_079019	Q6UWM9	UD2A3_HUMAN			1	675	-			215			Extracellular (Potential).		Q9H6S4	Missense_Mutation	SNP	ENST00000251566.4	37	c.644C>T	CCDS3525.1	.	.	.	.	.	.	.	.	.	.	G	5.637	0.302202	0.10678	.	.	ENSG00000135220	ENST00000251566	T	0.60797	0.16	4.74	-0.138	0.13464	.	0.258408	0.32935	N	0.005461	T	0.38665	0.1049	L	0.39633	1.23	0.09310	N	0.999999	B	0.14012	0.009	B	0.18561	0.022	T	0.15407	-1.0438	10	0.19590	T	0.45	.	4.4341	0.11542	0.4614:0.0:0.3855:0.1531	.	215	Q6UWM9	UD2A3_HUMAN	L	215	ENSP00000251566:S215L	ENSP00000251566:S215L	S	-	2	0	UGT2A3	69851424	0.000000	0.05858	0.000000	0.03702	0.040000	0.13550	0.022000	0.13511	-0.272000	0.09259	0.591000	0.81541	TCA		0.358	UGT2A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251564.1	NM_024743		13	33	0	0	0	0	13	33				
ADAMTS3	9508	broad.mit.edu	37	4	73149386	73149386	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr4:73149386G>A	ENST00000286657.4	-	22	3121	c.3085C>T	c.(3085-3087)Caa>Taa	p.Q1029*		NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	1029	PLAC. {ECO:0000255|PROSITE- ProRule:PRU00233}.				collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix organization (GO:0030198)|positive regulation of vascular endothelial growth factor signaling pathway (GO:1900748)|protein processing (GO:0016485)|vascular endothelial growth factor production (GO:0010573)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	endopeptidase activity (GO:0004175)|heparin binding (GO:0008201)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			ACTTCCATTTGACAGAATATG	0.393																																					NSCLC(168;1941 2048 2918 13048 43078)	uc003hgk.1		NA																	0				ovary(1)|lung(1)	2						c.(3085-3087)CAA>TAA		ADAM metallopeptidase with thrombospondin type 1							84.0	79.0	81.0					4																	73149386		2203	4300	6503	SO:0001587	stop_gained	9508				collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding	g.chr4:73149386G>A	AB002364	CCDS3553.1	4q21	2008-07-29	2005-08-19		ENSG00000156140	ENSG00000156140	3.4.24.-	"""ADAM metallopeptidases with thrombospondin type 1 motif"""	219	protein-coding gene	gene with protein product		605011	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 3"""			10094461	Standard	NM_014243		Approved	KIAA0366, ADAMTS-4	uc003hgk.2	O15072	OTTHUMG00000129912	ENST00000286657.4:c.3085C>T	4.37:g.73149386G>A	ENSP00000286657:p.Gln1029*						p.Q1029*	NM_014243	NP_055058	O15072	ATS3_HUMAN	Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		22	3122	-			1029			PLAC.		A1L3U9|Q9BXZ8	Nonsense_Mutation	SNP	ENST00000286657.4	37	c.3085C>T	CCDS3553.1	.	.	.	.	.	.	.	.	.	.	G	39	7.620288	0.98393	.	.	ENSG00000156140	ENST00000286657	.	.	.	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06365	T	0.9	.	19.0682	0.93122	0.0:0.0:1.0:0.0	.	.	.	.	X	1029	.	ENSP00000286657:Q1029X	Q	-	1	0	ADAMTS3	73368250	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	9.869000	0.99810	2.506000	0.84524	0.591000	0.81541	CAA		0.393	ADAMTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252164.2			25	63	0	0	0	0	25	63				
PARM1	25849	broad.mit.edu	37	4	75938051	75938051	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr4:75938051C>G	ENST00000307428.7	+	2	672	c.460C>G	c.(460-462)Cca>Gca	p.P154A	PARM1_ENST00000513238.1_Intron|RP11-44F21.2_ENST00000513770.1_RNA	NM_015393.3	NP_056208.2	Q6UWI2	PARM1_HUMAN	prostate androgen-regulated mucin-like protein 1	154					positive regulation of telomerase activity (GO:0051973)	early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|plasma membrane (GO:0005886)				cervix(1)|endometrium(2)|lung(4)|ovary(1)	8						CCCTCAAGCTCCAGCCTCATC	0.587																																						uc003hih.1		NA																	0				ovary(1)	1						c.(460-462)CCA>GCA		prostatic androgen-repressed message-1							212.0	227.0	222.0					4																	75938051		2148	4251	6399	SO:0001583	missense	25849				positive regulation of telomerase activity	early endosome|endosome membrane|Golgi membrane|integral to membrane|late endosome|plasma membrane		g.chr4:75938051C>G	AK022311	CCDS47077.1	4q13.3-q21.3	2010-02-17	2009-09-28		ENSG00000169116	ENSG00000169116			24536	protein-coding gene	gene with protein product	"""Prostatic androgen-repressed message 1"", ""Castration-induced prostatic apoptosis-related protein 1"", ""WSC4, cell wall integrity and stress response component 4 homolog (S. cerevisiae)"""					10499539, 12772192, 18027867	Standard	NM_015393		Approved	DKFZP564O0823, Cipar1, WSC4	uc003hih.2	Q6UWI2	OTTHUMG00000160827	ENST00000307428.7:c.460C>G	4.37:g.75938051C>G	ENSP00000370224:p.Pro154Ala						p.P154A	NM_015393	NP_056208	Q6UWI2	PARM1_HUMAN			2	700	+			154			Extracellular (Potential).		B3KMQ9|Q96DV8|Q9Y4S1	Missense_Mutation	SNP	ENST00000307428.7	37	c.460C>G	CCDS47077.1	.	.	.	.	.	.	.	.	.	.	C	19.23	3.788043	0.70337	.	.	ENSG00000169116	ENST00000307428	T	0.77098	-1.07	5.55	3.77	0.43336	.	0.215595	0.33005	N	0.005393	T	0.67192	0.2867	L	0.32530	0.975	0.09310	N	1	P	0.40180	0.705	B	0.41510	0.359	T	0.59804	-0.7385	10	0.45353	T	0.12	-7.9083	7.8916	0.29682	0.0:0.7504:0.1611:0.0884	.	154	Q6UWI2	PARM1_HUMAN	A	154	ENSP00000370224:P154A	ENSP00000370224:P154A	P	+	1	0	PARM1	76157075	0.001000	0.12720	0.065000	0.19835	0.626000	0.37791	0.488000	0.22371	1.302000	0.44855	0.563000	0.77884	CCA		0.587	PARM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362494.1	NM_015393		59	204	0	0	0	0	59	204				
USO1	8615	broad.mit.edu	37	4	76703974	76703974	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr4:76703974C>G	ENST00000538159.1	+	9	824	c.824C>G	c.(823-825)tCt>tGt	p.S275C	USO1_ENST00000514213.2_Missense_Mutation_p.S258C			O60763	USO1_HUMAN	USO1 vesicle transport factor	273	Globular head.				ER to Golgi vesicle-mediated transport (GO:0006888)|Golgi vesicle docking (GO:0048211)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|mitotic cell cycle (GO:0000278)|transcytosis (GO:0045056)|vesicle fusion with Golgi apparatus (GO:0048280)	endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|membrane (GO:0016020)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			TCTGGCTGGTCTGCACAGAAA	0.328																																						uc003hiu.2		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(817-819)TCT>TGT		USO1 homolog, vesicle docking protein							41.0	40.0	40.0					4																	76703974		1824	4086	5910	SO:0001583	missense	8615				intracellular protein transport|vesicle fusion with Golgi apparatus	cytosol|Golgi membrane	protein binding|protein transporter activity	g.chr4:76703974C>G	AL832010	CCDS75144.1	4q21.1	2012-12-10	2012-12-10		ENSG00000138768	ENSG00000138768			30904	protein-coding gene	gene with protein product	"""vesicle docking protein"", ""transcytosis associated protein"""	603344	"""USO1 homolog, vesicle docking protein (yeast)"", ""USO1 vesicle docking protein homolog (yeast)"""			9478999, 9150144, 12077354, 15979508, 14736916	Standard	XM_006714395		Approved	TAP, VDP, p115	uc003hiu.3	O60763	OTTHUMG00000160952	ENST00000538159.1:c.824C>G	4.37:g.76703974C>G	ENSP00000440586:p.Ser275Cys					USO1_uc003hiv.2_Missense_Mutation_p.S108C|USO1_uc003hiw.2_Missense_Mutation_p.S108C	p.S273C	NM_003715	NP_003706	O60763	USO1_HUMAN	Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)		8	993	+			273			ARM 5.|Globular head.		B2RAQ0|Q6PK63|Q86TB8|Q8N592	Missense_Mutation	SNP	ENST00000538159.1	37	c.818C>G		.	.	.	.	.	.	.	.	.	.	C	25.8	4.677329	0.88445	.	.	ENSG00000138768	ENST00000508939;ENST00000538159;ENST00000514213;ENST00000264904	T;T	0.49139	0.79;0.79	5.68	5.68	0.88126	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.56485	0.1988	M	0.64997	1.995	0.80722	D	1	P;P	0.50617	0.937;0.832	P;B	0.47044	0.535;0.208	T	0.60919	-0.7167	10	0.72032	D	0.01	.	19.79	0.96453	0.0:1.0:0.0:0.0	.	275;273	F5GYR8;O60763	.;USO1_HUMAN	C	108;275;258;201	ENSP00000440586:S275C;ENSP00000444850:S258C	ENSP00000264904:S201C	S	+	2	0	USO1	76922998	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.295000	0.78780	2.654000	0.90174	0.655000	0.94253	TCT		0.328	USO1-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_003715		5	30	0	0	0	0	5	30				
SEC31A	22872	broad.mit.edu	37	4	83791497	83791497	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr4:83791497G>C	ENST00000395310.2	-	8	1045	c.863C>G	c.(862-864)tCc>tGc	p.S288C	SEC31A_ENST00000443462.2_Missense_Mutation_p.S283C|SEC31A_ENST00000448323.1_Missense_Mutation_p.S288C|SEC31A_ENST00000348405.4_Missense_Mutation_p.S288C|SEC31A_ENST00000505984.1_Missense_Mutation_p.S288C|SEC31A_ENST00000508479.1_Missense_Mutation_p.S288C|SEC31A_ENST00000326950.5_Missense_Mutation_p.S288C|SEC31A_ENST00000508502.1_Missense_Mutation_p.S288C|SEC31A_ENST00000264405.5_Missense_Mutation_p.S60C|SEC31A_ENST00000355196.2_Missense_Mutation_p.S288C|SEC31A_ENST00000513858.1_Missense_Mutation_p.S288C|SEC31A_ENST00000311785.7_Missense_Mutation_p.S288C|SEC31A_ENST00000500777.2_Missense_Mutation_p.S288C|SEC31A_ENST00000436790.2_5'UTR|SEC31A_ENST00000505472.1_Missense_Mutation_p.S288C|SEC31A_ENST00000432794.1_Missense_Mutation_p.S288C|SEC31A_ENST00000509142.1_Missense_Mutation_p.S288C	NM_001077207.2|NM_001077208.2|NM_014933.3	NP_001070675.1|NP_001070676.1|NP_055748.2	O94979	SC31A_HUMAN	SEC31 homolog A (S. cerevisiae)	288	Interaction with SEC13.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER to Golgi vesicle-mediated transport (GO:0006888)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|protein transport (GO:0015031)|response to calcium ion (GO:0051592)	COPII vesicle coat (GO:0030127)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum exit site (GO:0070971)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle (GO:0030134)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|intracellular membrane-bounded organelle (GO:0043231)|perinuclear region of cytoplasm (GO:0048471)|vesicle coat (GO:0030120)	calcium-dependent protein binding (GO:0048306)		SEC31A/ALK(3)|SEC31A/JAK2(4)	breast(1)	1		Hepatocellular(203;0.114)				GTTTGGATTGGAGCAGAGAAT	0.408																																						uc003hnf.2		NA																SEC31A/JAK2(4)|SEC31A/ALK(3)	0				haematopoietic_and_lymphoid_tissue(4)|soft_tissue(3)|breast(1)	8						c.(862-864)TCC>TGC		SEC31 homolog A isoform 1							184.0	161.0	168.0					4																	83791497		2203	4300	6503	SO:0001583	missense	22872				COPII vesicle coating|post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|response to calcium ion	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm	calcium-dependent protein binding	g.chr4:83791497G>C	AB018358	CCDS3596.1, CCDS3597.1, CCDS43244.1, CCDS47088.1, CCDS54773.1, CCDS75155.1, CCDS75156.1	4q21.3	2013-01-10	2006-10-05	2006-09-07	ENSG00000138674	ENSG00000138674		"""WD repeat domain containing"""	17052	protein-coding gene	gene with protein product		610257	"""SEC31-like 1 (S. cerevisiae)"", ""Sec31 homolog A (S. cerevisiae)"""	SEC31L1		10048485, 10788476	Standard	NM_001077206		Approved	KIAA0905, ABP125, ABP130	uc003hnh.3	O94979	OTTHUMG00000130297	ENST00000395310.2:c.863C>G	4.37:g.83791497G>C	ENSP00000378721:p.Ser288Cys					SEC31A_uc003hne.2_Missense_Mutation_p.S60C|SEC31A_uc011ccl.1_Missense_Mutation_p.S288C|SEC31A_uc003hnl.2_Missense_Mutation_p.S288C|SEC31A_uc003hng.2_Missense_Mutation_p.S288C|SEC31A_uc003hnh.2_Missense_Mutation_p.S288C|SEC31A_uc003hni.2_Missense_Mutation_p.S288C|SEC31A_uc003hnj.2_Missense_Mutation_p.S288C|SEC31A_uc011ccm.1_Missense_Mutation_p.S283C|SEC31A_uc011ccn.1_Missense_Mutation_p.S288C|SEC31A_uc003hnk.2_Missense_Mutation_p.S288C|SEC31A_uc003hnm.2_Missense_Mutation_p.S288C|SEC31A_uc003hnn.1_Missense_Mutation_p.S288C|SEC31A_uc003hno.2_Missense_Mutation_p.S288C	p.S288C	NM_001077207	NP_001070675	O94979	SC31A_HUMAN			8	1027	-		Hepatocellular(203;0.114)	288			Interaction with SEC13.|WD 5.		B4DIW6|B7ZKZ7|B7ZL00|H7C2W3|Q17RR5|Q5H9P6|Q5XG74|Q659G7|Q6ZU90|Q7LCX9|Q86TJ0|Q8IZH4|Q9P048|Q9P0A6|Q9UM05|Q9UM06	Missense_Mutation	SNP	ENST00000395310.2	37	c.863C>G	CCDS3596.1	.	.	.	.	.	.	.	.	.	.	G	12.96	2.094897	0.36952	.	.	ENSG00000138674	ENST00000348405;ENST00000513858;ENST00000395310;ENST00000443462;ENST00000509142;ENST00000432794;ENST00000448323;ENST00000326950;ENST00000311785;ENST00000505472;ENST00000500777;ENST00000508502;ENST00000355196;ENST00000264405;ENST00000505984;ENST00000508479	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.65549	1.46;1.46;1.46;1.6;1.46;1.46;1.46;1.46;1.46;1.46;1.46;1.46;1.46;-0.16;1.46;1.46	5.38	4.52	0.55395	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.183160	0.50627	D	0.000114	T	0.48003	0.1476	N	0.14661	0.345	0.44162	D	0.996966	B;B;B;B;B;B;B;B;B;B	0.19935	0.002;0.005;0.001;0.002;0.003;0.001;0.016;0.04;0.003;0.005	B;B;B;B;B;B;B;B;B;B	0.20767	0.006;0.003;0.002;0.005;0.008;0.005;0.012;0.031;0.004;0.013	T	0.47636	-0.9102	10	0.52906	T	0.07	-6.7535	17.1692	0.86825	0.0:0.1579:0.8421:0.0	.	283;288;288;288;288;288;288;288;288;60	B4DIW6;B7ZL00;O94979-5;D6RHZ5;O94979-6;O94979-4;O94979-3;O94979-2;O94979;O94979-7	.;.;.;.;.;.;.;.;SC31A_HUMAN;.	C	288;288;288;283;288;288;288;288;288;288;288;288;288;60;288;288	ENSP00000337602:S288C;ENSP00000426886:S288C;ENSP00000378721:S288C;ENSP00000408027:S283C;ENSP00000426569:S288C;ENSP00000407944:S288C;ENSP00000400926:S288C;ENSP00000325087:S288C;ENSP00000309070:S288C;ENSP00000421633:S288C;ENSP00000421464:S288C;ENSP00000424635:S288C;ENSP00000347329:S288C;ENSP00000264405:S60C;ENSP00000424451:S288C;ENSP00000425999:S288C	ENSP00000264405:S60C	S	-	2	0	SEC31A	84010521	1.000000	0.71417	1.000000	0.80357	0.889000	0.51656	4.720000	0.61944	2.505000	0.84491	0.555000	0.69702	TCC		0.408	SEC31A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252640.1	NM_016211		38	134	0	0	0	0	38	134				
MANBA	4126	broad.mit.edu	37	4	103585971	103585971	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr4:103585971C>T	ENST00000226578.4	-	11	1455	c.1356G>A	c.(1354-1356)tgG>tgA	p.W452*	MANBA_ENST00000505239.1_Nonsense_Mutation_p.W395*	NM_005908.3	NP_005899.3	O00462	MANBA_HUMAN	mannosidase, beta A, lysosomal	452					cellular protein modification process (GO:0006464)|glycoprotein catabolic process (GO:0006516)|mannan catabolic process (GO:0046355)	intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)	beta-mannosidase activity (GO:0004567)|mannose binding (GO:0005537)			cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;4.44e-08)		TATTGCCACTCCATATGATGA	0.343																																						uc003hwg.2		NA																	0				ovary(1)	1						c.(1354-1356)TGG>TGA		mannosidase, beta A, lysosomal precursor							92.0	87.0	89.0					4																	103585971		2202	4300	6502	SO:0001587	stop_gained	4126				carbohydrate metabolic process|protein modification process	lysosome	beta-mannosidase activity|cation binding	g.chr4:103585971C>T		CCDS3658.1	4q24	2013-09-20			ENSG00000109323	ENSG00000109323	3.2.1.25		6831	protein-coding gene	gene with protein product		609489				7876128	Standard	NM_005908		Approved		uc003hwg.3	O00462	OTTHUMG00000131123	ENST00000226578.4:c.1356G>A	4.37:g.103585971C>T	ENSP00000226578:p.Trp452*					MANBA_uc011ces.1_Nonsense_Mutation_p.W395*	p.W452*	NM_005908	NP_005899	O00462	MANBA_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.44e-08)	11	1456	-		Hepatocellular(203;0.217)	452					Q96BC3|Q9NYX9	Nonsense_Mutation	SNP	ENST00000226578.4	37	c.1356G>A	CCDS3658.1	.	.	.	.	.	.	.	.	.	.	C	39	7.322516	0.98210	.	.	ENSG00000109323	ENST00000226578;ENST00000505239	.	.	.	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.8325	19.1976	0.93696	0.0:1.0:0.0:0.0	.	.	.	.	X	452;395	.	ENSP00000226578:W452X	W	-	3	0	MANBA	103805019	1.000000	0.71417	0.995000	0.50966	0.985000	0.73830	7.074000	0.76791	2.525000	0.85131	0.655000	0.94253	TGG		0.343	MANBA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253803.2			24	73	0	0	0	0	24	73				
ENPEP	2028	broad.mit.edu	37	4	111470954	111470954	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr4:111470954G>C	ENST00000265162.5	+	17	2755	c.2413G>C	c.(2413-2415)Gag>Cag	p.E805Q		NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN	glutamyl aminopeptidase (aminopeptidase A)	805					angiogenesis (GO:0001525)|angiotensin catabolic process in blood (GO:0002005)|angiotensin maturation (GO:0002003)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|cellular protein metabolic process (GO:0044267)|glomerulus development (GO:0032835)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|brush border (GO:0005903)|cytoplasmic vesicle (GO:0031410)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metalloaminopeptidase activity (GO:0070006)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)		CTACACTCTTGAGCAATACCA	0.413																																						uc003iab.3		NA																	0				skin(3)|ovary(1)|breast(1)	5						c.(2413-2415)GAG>CAG		glutamyl aminopeptidase	L-Glutamic Acid(DB00142)						100.0	99.0	99.0					4																	111470954		2203	4300	6503	SO:0001583	missense	2028				cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding	g.chr4:111470954G>C	L12468	CCDS3691.1	4q25	2008-02-05			ENSG00000138792	ENSG00000138792	3.4.11.7	"""CD molecules"""	3355	protein-coding gene	gene with protein product		138297				9268642	Standard	NM_001977		Approved	gp160, CD249	uc003iab.4	Q07075	OTTHUMG00000132546	ENST00000265162.5:c.2413G>C	4.37:g.111470954G>C	ENSP00000265162:p.Glu805Gln						p.E805Q	NM_001977	NP_001968	Q07075	AMPE_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	17	2755	+		Hepatocellular(203;0.217)	805			Extracellular (Potential).		Q504U2	Missense_Mutation	SNP	ENST00000265162.5	37	c.2413G>C	CCDS3691.1	.	.	.	.	.	.	.	.	.	.	G	7.897	0.733625	0.15574	.	.	ENSG00000138792	ENST00000265162	T	0.06608	3.28	5.27	0.0589	0.14330	.	0.573605	0.20767	N	0.086057	T	0.02929	0.0087	N	0.13003	0.285	0.09310	N	1	B	0.11235	0.004	B	0.17722	0.019	T	0.46555	-0.9183	10	0.14252	T	0.57	.	5.2163	0.15344	0.1404:0.3976:0.3605:0.1015	.	805	Q07075	AMPE_HUMAN	Q	805	ENSP00000265162:E805Q	ENSP00000265162:E805Q	E	+	1	0	ENPEP	111690403	0.000000	0.05858	0.646000	0.29493	0.978000	0.69477	-0.523000	0.06230	0.208000	0.20626	0.655000	0.94253	GAG		0.413	ENPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255747.2			22	61	0	0	0	0	22	61				
ZGRF1	55345	broad.mit.edu	37	4	113468485	113468485	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr4:113468485C>T	ENST00000505019.1	-	24	5679	c.5554G>A	c.(5554-5556)Gaa>Aaa	p.E1852K	RP11-402J6.1_ENST00000504009.1_RNA	NM_018392.4	NP_060862.3	Q86YA3	ZGRF1_HUMAN		1852						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		AATCCATTTTCATGAGCTGCA	0.363																																						uc003iau.2		NA																	0					0						c.(5554-5556)GAA>AAA		prematurely terminated mRNA decay factor-like							99.0	89.0	92.0					4																	113468485		2203	4300	6503	SO:0001583	missense	55345					integral to membrane	zinc ion binding	g.chr4:113468485C>T																												ENST00000505019.1:c.5554G>A	4.37:g.113468485C>T	ENSP00000424737:p.Glu1852Lys					C4orf21_uc003iav.2_RNA|C4orf21_uc003iat.2_Missense_Mutation_p.E310K	p.E1852K	NM_018392	NP_060862	Q6ZU11	YD002_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000676)	24	5765	-		Ovarian(17;0.156)	674					B3KQX2|B4DSN6|B4DYU8|E9PDE1|G5EA02|Q6ZU11|Q9NSW3|Q9NUJ4	Missense_Mutation	SNP	ENST00000505019.1	37	c.5554G>A		.	.	.	.	.	.	.	.	.	.	C	13.55	2.270971	0.40194	.	.	ENSG00000138658	ENST00000505019	D	0.81579	-1.51	5.93	5.07	0.68467	.	0.357017	0.29565	N	0.011785	T	0.66538	0.2799	N	0.11892	0.195	0.80722	D	1	B;B	0.18461	0.01;0.028	B;B	0.16289	0.015;0.009	T	0.60383	-0.7274	10	0.18276	T	0.48	-28.8114	17.02	0.86431	0.0:0.8727:0.1273:0.0	.	1852;310	G5EA02;B3KQX2	.;.	K	1852	ENSP00000424737:E1852K	ENSP00000424737:E1852K	E	-	1	0	C4orf21	113687934	0.992000	0.36948	1.000000	0.80357	0.996000	0.88848	1.909000	0.39917	1.461000	0.47929	0.655000	0.94253	GAA		0.363	C4orf21-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000256413.1			10	57	0	0	0	0	10	57				
SEC24D	9871	broad.mit.edu	37	4	119736304	119736304	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr4:119736304G>C	ENST00000280551.6	-	6	918	c.680C>G	c.(679-681)tCt>tGt	p.S227C	SEC24D_ENST00000419654.2_5'UTR|SEC24D_ENST00000379735.5_Missense_Mutation_p.S228C			O94855	SC24D_HUMAN	SEC24 family member D	227	Pro-rich.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|in utero embryonic development (GO:0001701)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)	zinc ion binding (GO:0008270)			breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37						CTGGGGACCAGAGTTGGCTGC	0.498																																						uc003ici.3		NA																	0					0						c.(679-681)TCT>TGT		Sec24-related protein D							44.0	46.0	45.0					4																	119736304		2203	4300	6503	SO:0001583	missense	9871				COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	zinc ion binding	g.chr4:119736304G>C	AB018298	CCDS3710.1	4q26	2013-10-21	2013-10-21		ENSG00000150961	ENSG00000150961			10706	protein-coding gene	gene with protein product		607186	"""SEC24 (S. cerevisiae) related gene family, member D"", ""SEC24 family, member D (S. cerevisiae)"""			9872452, 10075675	Standard	NM_014822		Approved	KIAA0755	uc003ici.4	O94855	OTTHUMG00000132957	ENST00000280551.6:c.680C>G	4.37:g.119736304G>C	ENSP00000280551:p.Ser227Cys					SEC24D_uc003icj.3_Missense_Mutation_p.S228C|SEC24D_uc003icl.2_RNA|SEC24D_uc010imz.1_RNA|SEC24D_uc011cgg.1_RNA	p.S227C	NM_014822	NP_055637	O94855	SC24D_HUMAN			6	952	-			227			Pro-rich.		Q8IYI7	Missense_Mutation	SNP	ENST00000280551.6	37	c.680C>G	CCDS3710.1	.	.	.	.	.	.	.	.	.	.	G	12.93	2.085222	0.36758	.	.	ENSG00000150961	ENST00000280551;ENST00000379735	T;T	0.23552	1.96;1.9	5.68	1.93	0.25924	.	0.392009	0.29328	N	0.012464	T	0.10895	0.0266	N	0.08118	0	0.80722	D	1	B;B	0.27559	0.181;0.05	B;B	0.20184	0.028;0.008	T	0.15752	-1.0426	10	0.39692	T	0.17	-3.6783	7.0017	0.24813	0.129:0.0:0.3374:0.5336	.	228;227	O94855-2;O94855	.;SC24D_HUMAN	C	227;228	ENSP00000280551:S227C;ENSP00000369059:S228C	ENSP00000280551:S227C	S	-	2	0	SEC24D	119955752	0.997000	0.39634	0.914000	0.36105	0.241000	0.25554	0.134000	0.15932	0.091000	0.17302	0.650000	0.86243	TCT		0.498	SEC24D-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000256514.4			20	64	0	0	0	0	20	64				
FAT4	79633	broad.mit.edu	37	4	126241934	126241934	+	Silent	SNP	C	C	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr4:126241934C>A	ENST00000394329.3	+	1	4381	c.4368C>A	c.(4366-4368)tcC>tcA	p.S1456S		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	1456	Cadherin 14. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						GTCAACTATCCTACACAATCA	0.388																																						uc003ifj.3		NA																	0				ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						c.(4366-4368)TCC>TCA		FAT tumor suppressor homolog 4 precursor							131.0	120.0	124.0					4																	126241934		1918	4132	6050	SO:0001819	synonymous_variant	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126241934C>A	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.4368C>A	4.37:g.126241934C>A							p.S1456S	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN			1	4368	+			1456			Cadherin 14.|Extracellular (Potential).		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Silent	SNP	ENST00000394329.3	37	c.4368C>A	CCDS3732.3																																																																																				0.388	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		27	101	1	0	4.23e-11	4.48e-11	27	101				
TUBB7P	56604	broad.mit.edu	37	4	190903695	190903695	+	IGR	SNP	C	C	T	rs370967028		TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr4:190903695C>T								FRG1 (19336 upstream) : RNA5SP174 (32597 downstream)																							CCTCCTCCCTCGGCCGTGGCA	0.532																																						uc011clg.1		NA																	0					0						c.(1285-1287)GAG>AAG		tubulin, beta polypeptide 4, member Q		T		1,4405		0,1,2202	126.0	146.0	139.0			-0.3	0.0	4		139	0,8600		0,0,4300	no	intergenic				0,1,6502	TT,TC,CC		0.0,0.0227,0.0077			190903695	1,13005	2203	4300	6503	SO:0001628	intergenic_variant	56604				'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity	g.chr4:190903695C>T																													4.37:g.190903695C>T							p.E429K	NM_020040	NP_064424	Q99867	TBB4Q_HUMAN		all cancers(3;4.1e-31)|Epithelial(3;1.44e-30)|OV - Ovarian serous cystadenocarcinoma(60;2.03e-15)|BRCA - Breast invasive adenocarcinoma(30;8.54e-06)|Lung(3;3.23e-05)|STAD - Stomach adenocarcinoma(60;8.24e-05)|LUSC - Lung squamous cell carcinoma(40;0.000184)|GBM - Glioblastoma multiforme(59;0.00839)|READ - Rectum adenocarcinoma(43;0.155)	4	1288	-		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)	430						Missense_Mutation	SNP		37	c.1285G>A																																																																																				0	0.532									84	209	0	0	0	0	84	209				
PDZD2	23037	broad.mit.edu	37	5	32091009	32091009	+	Silent	SNP	G	G	C			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr5:32091009G>C	ENST00000438447.1	+	20	7843	c.7455G>C	c.(7453-7455)ctG>ctC	p.L2485L	PDZD2_ENST00000282493.3_Silent_p.L2485L			O15018	PDZD2_HUMAN	PDZ domain containing 2	2485					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						TCCAGGAGCTGAGAGCCTTGA	0.607																																						uc003jhl.2		NA																	0				central_nervous_system(4)|ovary(2)|skin(2)|large_intestine(1)	9						c.(7453-7455)CTG>CTC		PDZ domain containing 2							59.0	59.0	59.0					5																	32091009		2203	4300	6503	SO:0001819	synonymous_variant	23037				cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus		g.chr5:32091009G>C	AB002298	CCDS34137.1	5p14.1	2008-02-05	2006-01-24	2006-01-24		ENSG00000133401			18486	protein-coding gene	gene with protein product		610697	"""PDZ domain containing 3"""	PDZK3		9205841	Standard	XM_005248271		Approved	KIAA0300	uc003jhm.3	O15018		ENST00000438447.1:c.7455G>C	5.37:g.32091009G>C						PDZD2_uc003jhm.2_Silent_p.L2485L	p.L2485L	NM_178140	NP_835260	O15018	PDZD2_HUMAN			20	7843	+			2485					Q9BXD4	Silent	SNP	ENST00000438447.1	37	c.7455G>C	CCDS34137.1																																																																																				0.607	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366608.1			30	59	0	0	0	0	30	59				
SKP2	6502	broad.mit.edu	37	5	36181975	36181975	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr5:36181975G>C	ENST00000274255.6	+	10	1313	c.1117G>C	c.(1117-1119)Gat>Cat	p.D373H	SKP2_ENST00000274254.5_Intron|SKP2_ENST00000508514.1_Missense_Mutation_p.D166H|SKP2_ENST00000546211.1_Missense_Mutation_p.D159H	NM_005983.3	NP_005974.2	Q13309	SKP2_HUMAN	S-phase kinase-associated protein 2, E3 ubiquitin protein ligase	373					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|cellular response to cell-matrix adhesion (GO:0071460)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of smooth muscle cell proliferation (GO:0048661)|protein polyubiquitination (GO:0000209)|regulation of cell cycle (GO:0051726)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SCF ubiquitin ligase complex (GO:0019005)	identical protein binding (GO:0042802)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|central_nervous_system(2)|ovary(1)	4	all_lung(31;5.63e-05)		Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AATCGTGCCAGATGGTACCCT	0.403																																						uc003jkc.1		NA																	0				central_nervous_system(2)|ovary(1)|breast(1)	4						c.(1117-1119)GAT>CAT		S-phase kinase-associated protein 2 isoform 1							131.0	131.0	131.0					5																	36181975		2203	4300	6503	SO:0001583	missense	6502				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|G1/S transition of mitotic cell cycle|S phase of mitotic cell cycle	nucleoplasm|SCF ubiquitin ligase complex	protein binding	g.chr5:36181975G>C	U33761	CCDS3915.1, CCDS3916.1, CCDS58944.1	5p13	2012-02-23	2012-02-23		ENSG00000145604	ENSG00000145604		"""F-boxes / Leucine-rich repeats"""	10901	protein-coding gene	gene with protein product		601436	"""S-phase kinase-associated protein 2 (p45)"""			8646875	Standard	NM_005983		Approved	FBXL1, FBL1, p45	uc003jkc.2	Q13309	OTTHUMG00000131106	ENST00000274255.6:c.1117G>C	5.37:g.36181975G>C	ENSP00000274255:p.Asp373His					SKP2_uc011cou.1_Missense_Mutation_p.D159H|SKP2_uc003jkd.2_Intron	p.D373H	NM_005983	NP_005974	Q13309	SKP2_HUMAN	Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		10	1299	+	all_lung(31;5.63e-05)		373					A8K5E0|B4DJT4|Q8TDZ0|Q8TDZ1|Q9BV69	Missense_Mutation	SNP	ENST00000274255.6	37	c.1117G>C	CCDS3916.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.315446	0.81358	.	.	ENSG00000145604	ENST00000274255;ENST00000308927;ENST00000508514;ENST00000546211	T;T;T	0.19669	2.13;2.13;2.13	5.91	5.91	0.95273	.	.	.	.	.	T	0.28499	0.0705	M	0.64404	1.975	0.47547	D	0.999455	P;P	0.39352	0.669;0.531	B;B	0.36845	0.234;0.157	T	0.04708	-1.0932	9	0.87932	D	0	.	20.3057	0.98631	0.0:0.0:1.0:0.0	.	159;373	B4DJT4;Q13309	.;SKP2_HUMAN	H	373;339;166;159	ENSP00000274255:D373H;ENSP00000421941:D166H;ENSP00000443492:D159H	ENSP00000274255:D373H	D	+	1	0	SKP2	36217732	1.000000	0.71417	0.991000	0.47740	0.994000	0.84299	7.117000	0.77129	2.791000	0.96007	0.655000	0.94253	GAT		0.403	SKP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253769.2	NM_005983		65	159	0	0	0	0	65	159				
WDR70	55100	broad.mit.edu	37	5	37479940	37479940	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr5:37479940C>T	ENST00000265107.4	+	8	847	c.691C>T	c.(691-693)Cag>Tag	p.Q231*	WDR70_ENST00000510699.1_3'UTR|WDR70_ENST00000504564.1_Nonsense_Mutation_p.Q231*	NM_018034.2	NP_060504.1	Q9NW82	WDR70_HUMAN	WD repeat domain 70	231							enzyme binding (GO:0019899)			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_lung(31;0.000285)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GTACAGCCATCAGATCAAGTC	0.338																																						uc003jkv.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(691-693)CAG>TAG		WD repeat domain 70							202.0	189.0	193.0					5																	37479940		2203	4300	6503	SO:0001587	stop_gained	55100							g.chr5:37479940C>T	BC009648	CCDS34147.1	5p13.2	2013-01-09			ENSG00000082068	ENSG00000082068		"""WD repeat domain containing"""	25495	protein-coding gene	gene with protein product						12477932	Standard	NM_018034		Approved	FLJ10233	uc003jkv.3	Q9NW82	OTTHUMG00000162263	ENST00000265107.4:c.691C>T	5.37:g.37479940C>T	ENSP00000265107:p.Gln231*					WDR70_uc010iva.1_Nonsense_Mutation_p.Q231*	p.Q231*	NM_018034	NP_060504	Q9NW82	WDR70_HUMAN	COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		8	749	+	all_lung(31;0.000285)		231			WD 2.		Q9H053	Nonsense_Mutation	SNP	ENST00000265107.4	37	c.691C>T	CCDS34147.1	.	.	.	.	.	.	.	.	.	.	C	38	7.230800	0.98150	.	.	ENSG00000082068	ENST00000265107;ENST00000504564	.	.	.	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.23891	T	0.37	-7.2188	19.7538	0.96281	0.0:1.0:0.0:0.0	.	.	.	.	X	231	.	ENSP00000265107:Q231X	Q	+	1	0	WDR70	37515697	1.000000	0.71417	1.000000	0.80357	0.665000	0.39181	5.611000	0.67674	2.690000	0.91761	0.655000	0.94253	CAG		0.338	WDR70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368294.1	NM_018034		30	107	0	0	0	0	30	107				
C5orf51	285636	broad.mit.edu	37	5	41911231	41911231	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr5:41911231C>G	ENST00000381647.2	+	4	455	c.436C>G	c.(436-438)Ctt>Gtt	p.L146V	C5orf51_ENST00000505931.2_3'UTR	NM_175921.4	NP_787117.3	A6NDU8	CE051_HUMAN	chromosome 5 open reading frame 51	146										endometrium(1)|large_intestine(5)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11						TTGTCATTCTCTTACCAAAAG	0.388																																						uc003jmo.2		NA																	0					0						c.(436-438)CTT>GTT		hypothetical protein LOC285636							99.0	96.0	97.0					5																	41911231		2203	4300	6503	SO:0001583	missense	285636							g.chr5:41911231C>G	AL833916, AK094002	CCDS34151.1	5p13.1	2008-07-18			ENSG00000205765	ENSG00000205765			27750	protein-coding gene	gene with protein product						14702039	Standard	NM_175921		Approved	LOC285636	uc003jmo.3	A6NDU8	OTTHUMG00000162084	ENST00000381647.2:c.436C>G	5.37:g.41911231C>G	ENSP00000371061:p.Leu146Val						p.L146V	NM_175921	NP_787117	A6NDU8	CE051_HUMAN			4	436	+			146					A2RRM9	Missense_Mutation	SNP	ENST00000381647.2	37	c.436C>G	CCDS34151.1	.	.	.	.	.	.	.	.	.	.	C	5.877	0.345980	0.11126	.	.	ENSG00000205765	ENST00000381647	T	0.39056	1.1	5.7	3.89	0.44902	.	0.212212	0.41001	D	0.000973	T	0.15003	0.0362	N	0.04880	-0.145	0.39640	D	0.970304	B	0.31318	0.319	B	0.22753	0.041	T	0.18241	-1.0343	10	0.02654	T	1	-1.4162	7.791	0.29121	0.0:0.6093:0.2935:0.0972	.	146	A6NDU8	CE051_HUMAN	V	146	ENSP00000371061:L146V	ENSP00000371061:L146V	L	+	1	0	C5orf51	41946988	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	3.054000	0.49908	1.422000	0.47177	0.467000	0.42956	CTT		0.388	C5orf51-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367144.1	NM_175921		16	44	0	0	0	0	16	44				
PAIP1	10605	broad.mit.edu	37	5	43535702	43535702	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr5:43535702C>T	ENST00000306846.3	-	7	1245	c.1013G>A	c.(1012-1014)gGa>gAa	p.G338E	PAIP1_ENST00000436644.2_Missense_Mutation_p.G259E|PAIP1_ENST00000514514.1_Missense_Mutation_p.G259E|PAIP1_ENST00000338972.4_Missense_Mutation_p.G226E	NM_006451.4|NM_182789.3	NP_006442.2|NP_877590.1	Q9H074	PAIP1_HUMAN	poly(A) binding protein interacting protein 1	338	MIF4G.				gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|mRNA stabilization (GO:0048255)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of translation (GO:0045727)|RNA metabolic process (GO:0016070)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	RNA binding (GO:0003723)|translation activator activity (GO:0008494)			endometrium(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Lung NSC(6;2.07e-05)					ATCCATCTTTCCTTTTTCCTT	0.328																																						uc003job.2		NA																	0				ovary(1)	1						c.(1012-1014)GGA>GAA		poly(A) binding protein interacting protein 1							114.0	109.0	111.0					5																	43535702		2201	4297	6498	SO:0001583	missense	10605				mRNA stabilization|nuclear-transcribed mRNA poly(A) tail shortening|translational initiation	cytosol	protein binding|RNA binding|translation activator activity	g.chr5:43535702C>T	AF013758	CCDS3947.1, CCDS3948.1, CCDS47204.1	5p12	2008-02-05			ENSG00000172239	ENSG00000172239			16945	protein-coding gene	gene with protein product		605184				9548260, 11230166	Standard	NM_006451		Approved		uc003job.3	Q9H074	OTTHUMG00000096960	ENST00000306846.3:c.1013G>A	5.37:g.43535702C>T	ENSP00000302768:p.Gly338Glu					PAIP1_uc003joa.2_Missense_Mutation_p.G259E|PAIP1_uc010ivp.2_Missense_Mutation_p.G259E|PAIP1_uc010ivo.2_RNA|PAIP1_uc003joc.2_Missense_Mutation_p.G226E	p.G338E	NM_006451	NP_006442	Q9H074	PAIP1_HUMAN			7	1260	-	Lung NSC(6;2.07e-05)		338			MIF4G.		A6NKV8|O60455|Q96B61|Q9BS63	Missense_Mutation	SNP	ENST00000306846.3	37	c.1013G>A	CCDS3947.1	.	.	.	.	.	.	.	.	.	.	C	19.02	3.746764	0.69418	.	.	ENSG00000172239	ENST00000306846;ENST00000436644;ENST00000338972;ENST00000514514	T;T;T;T	0.22134	1.97;1.97;1.97;1.97	5.79	2.95	0.34219	MIF4G-like, type 3 (2);Armadillo-type fold (1);MIF4-like, type 1/2/3 (1);	0.217837	0.47455	D	0.000223	T	0.28267	0.0698	M	0.63843	1.955	0.45995	D	0.998808	P;D;P	0.58970	0.919;0.984;0.946	B;P;B	0.51777	0.387;0.679;0.411	T	0.02179	-1.1200	10	0.72032	D	0.01	-4.8208	5.9273	0.19120	0.1417:0.6487:0.1365:0.0732	.	259;338;259	D6REB4;Q9H074;Q9H074-2	.;PAIP1_HUMAN;.	E	338;259;226;259	ENSP00000302768:G338E;ENSP00000387729:G259E;ENSP00000339622:G226E;ENSP00000425084:G259E	ENSP00000302768:G338E	G	-	2	0	PAIP1	43571459	1.000000	0.71417	0.996000	0.52242	0.985000	0.73830	3.474000	0.53129	0.319000	0.23209	0.650000	0.86243	GGA		0.328	PAIP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000214024.1	NM_006451		15	46	0	0	0	0	15	46				
NNT	23530	broad.mit.edu	37	5	43616149	43616149	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr5:43616149C>T	ENST00000264663.5	+	4	802	c.581C>T	c.(580-582)tCc>tTc	p.S194F	NNT_ENST00000512996.2_Missense_Mutation_p.S63F|NNT_ENST00000344920.4_Missense_Mutation_p.S194F	NM_012343.3	NP_036475.3	Q13423	NNTM_HUMAN	nicotinamide nucleotide transhydrogenase	194					cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|oxidation-reduction process (GO:0055114)|proton transport (GO:0015992)|reactive oxygen species metabolic process (GO:0072593)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain (GO:0005746)|mitochondrion (GO:0005739)	NAD binding (GO:0051287)|NAD(P)+ transhydrogenase (AB-specific) activity (GO:0008750)|NAD(P)+ transhydrogenase (B-specific) activity (GO:0003957)|NAD(P)+ transhydrogenase activity (GO:0008746)|NADP binding (GO:0050661)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(7)|large_intestine(6)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(6;2.58e-06)					GCGCTAAGCTCCATGGCCAAC	0.433																																						uc003joe.2		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(580-582)TCC>TTC		nicotinamide nucleotide transhydrogenase	NADH(DB00157)						99.0	101.0	100.0					5																	43616149		2203	4300	6503	SO:0001583	missense	23530				tricarboxylic acid cycle	integral to membrane|mitochondrial respiratory chain	NAD binding|NAD(P)+ transhydrogenase (AB-specific) activity|NAD(P)+ transhydrogenase (B-specific) activity|NADP binding	g.chr5:43616149C>T	U40490	CCDS3949.1	5p12	2008-02-05			ENSG00000112992	ENSG00000112992	1.6.1.1		7863	protein-coding gene	gene with protein product		607878				9271681, 9524818	Standard	NM_182977		Approved		uc003jof.3	Q13423	OTTHUMG00000096961	ENST00000264663.5:c.581C>T	5.37:g.43616149C>T	ENSP00000264663:p.Ser194Phe					NNT_uc003jof.2_Missense_Mutation_p.S194F	p.S194F	NM_012343	NP_036475	Q13423	NNTM_HUMAN			4	836	+	Lung NSC(6;2.58e-06)		194			Mitochondrial matrix.		Q16796|Q2TB60|Q8N3V4	Missense_Mutation	SNP	ENST00000264663.5	37	c.581C>T	CCDS3949.1	.	.	.	.	.	.	.	.	.	.	C	32	5.136389	0.94517	.	.	ENSG00000112992	ENST00000505678;ENST00000512422;ENST00000264663;ENST00000344920;ENST00000512996	T;T;T;T;T	0.78924	-1.22;-1.22;-1.22;-1.22;-1.22	5.66	5.66	0.87406	Alanine dehydrogenase/PNT, N-terminal (1);	0.051511	0.85682	D	0.000000	D	0.93128	0.7812	H	0.98178	4.165	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	D	0.95224	0.8336	10	0.87932	D	0	-6.7809	19.7973	0.96491	0.0:1.0:0.0:0.0	.	194	Q13423	NNTM_HUMAN	F	194;194;194;194;63	ENSP00000427670:S194F;ENSP00000421886:S194F;ENSP00000264663:S194F;ENSP00000343873:S194F;ENSP00000426343:S63F	ENSP00000264663:S194F	S	+	2	0	NNT	43651906	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.603000	0.82811	2.673000	0.90976	0.650000	0.86243	TCC		0.433	NNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214026.1	NM_182977		64	133	0	0	0	0	64	133				
PARP8	79668	broad.mit.edu	37	5	50091070	50091070	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr5:50091070G>C	ENST00000281631.5	+	12	1405	c.1247G>C	c.(1246-1248)aGa>aCa	p.R416T	PARP8_ENST00000505697.2_Missense_Mutation_p.R416T|PARP8_ENST00000505554.1_Missense_Mutation_p.R395T|PARP8_ENST00000503750.2_Missense_Mutation_p.R416T|PARP8_ENST00000514342.2_Missense_Mutation_p.R169T|PARP8_ENST00000511363.2_3'UTR|PARP8_ENST00000514067.2_Missense_Mutation_p.R416T	NM_001178056.1|NM_024615.3	NP_001171527.1|NP_078891.2	Q8N3A8	PARP8_HUMAN	poly (ADP-ribose) polymerase family, member 8	416						intracellular (GO:0005622)	NAD+ ADP-ribosyltransferase activity (GO:0003950)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Lung NSC(810;0.0305)|Breast(144;0.222)				AGTAATCTCAGAATGGAAGAA	0.418																																						uc003jon.3		NA																	0				lung(3)|large_intestine(1)|ovary(1)	5						c.(1246-1248)AGA>ACA		poly (ADP-ribose) polymerase family, member 8							79.0	79.0	79.0					5																	50091070		2203	4300	6503	SO:0001583	missense	79668					intracellular	NAD+ ADP-ribosyltransferase activity	g.chr5:50091070G>C	AL834477	CCDS3954.1, CCDS54849.1	5q11.2	2010-02-16			ENSG00000151883	ENSG00000151883		"""Poly (ADP-ribose) polymerases"""	26124	protein-coding gene	gene with protein product						15273990	Standard	NM_001178055		Approved	FLJ21308, pART16	uc003joo.3	Q8N3A8	OTTHUMG00000096969	ENST00000281631.5:c.1247G>C	5.37:g.50091070G>C	ENSP00000281631:p.Arg416Thr					PARP8_uc011cpz.1_Missense_Mutation_p.R308T|PARP8_uc003joo.2_Missense_Mutation_p.R416T|PARP8_uc003jop.2_Missense_Mutation_p.R416T	p.R416T	NM_024615	NP_078891	Q8N3A8	PARP8_HUMAN			13	1429	+		Lung NSC(810;0.0305)|Breast(144;0.222)	416					Q3KRB7|Q6DHZ1|Q9H754	Missense_Mutation	SNP	ENST00000281631.5	37	c.1247G>C	CCDS3954.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.275658	0.80580	.	.	ENSG00000151883	ENST00000505697;ENST00000503750;ENST00000514342;ENST00000281631;ENST00000514067;ENST00000505554;ENST00000503561;ENST00000423185	.	.	.	5.3	5.3	0.74995	.	0.000000	0.85682	D	0.000000	T	0.66577	0.2803	L	0.29908	0.895	0.54753	D	0.999984	D;D;D	0.63880	0.987;0.981;0.993	D;D;D	0.72338	0.942;0.943;0.977	T	0.63391	-0.6648	8	.	.	.	-9.561	19.329	0.94278	0.0:0.0:1.0:0.0	.	308;416;416	B4DQ81;Q8N3A8-2;Q8N3A8	.;.;PARP8_HUMAN	T	416;416;169;416;416;395;169;169	.	.	R	+	2	0	PARP8	50126827	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.310000	0.72830	2.605000	0.88082	0.655000	0.94253	AGA		0.418	PARP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214035.3	NM_024615		12	76	0	0	0	0	12	76				
MAST4	375449	broad.mit.edu	37	5	66456300	66456300	+	Nonsense_Mutation	SNP	C	C	G			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr5:66456300C>G	ENST00000403625.2	+	27	3960	c.3665C>G	c.(3664-3666)tCa>tGa	p.S1222*	MAST4_ENST00000261569.7_Nonsense_Mutation_p.S1028*|MAST4_ENST00000404260.3_Nonsense_Mutation_p.S1225*|MAST4_ENST00000405643.1_Nonsense_Mutation_p.S1043*|MAST4_ENST00000403666.1_Nonsense_Mutation_p.S1033*	NM_001164664.1	NP_001158136.1	O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	1225	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.					cytoplasm (GO:0005737)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		AATAAGGTGTCAATCACTACT	0.423																																						uc003jut.1		NA																	0				lung(6)|ovary(2)|kidney(2)|breast(2)|central_nervous_system(1)	13						c.(3097-3099)TCA>TGA		microtubule associated serine/threonine kinase							141.0	141.0	141.0					5																	66456300		1890	4123	6013	SO:0001587	stop_gained	375449					cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr5:66456300C>G	AY830839	CCDS47224.1, CCDS47225.1, CCDS54861.1, CCDS75254.1	5q12.3	2007-06-20			ENSG00000069020	ENSG00000069020			19037	protein-coding gene	gene with protein product						9205841	Standard	NM_198828		Approved	KIAA0303	uc021xzk.1	O15021	OTTHUMG00000152471	ENST00000403625.2:c.3665C>G	5.37:g.66456300C>G	ENSP00000385727:p.Ser1222*					MAST4_uc003juw.2_Nonsense_Mutation_p.S961*	p.S1033*	NM_015183	NP_055998	O15021	MAST4_HUMAN		Lung(70;0.011)	26	3166	+		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)	1225			PDZ.		A6NL49|B5ME48|Q05EE6|Q6ZN07|Q8N4X4|Q96LY3	Nonsense_Mutation	SNP	ENST00000403625.2	37	c.3098C>G	CCDS54861.1	.	.	.	.	.	.	.	.	.	.	C	43	10.045094	0.99324	.	.	ENSG00000069020	ENST00000404260;ENST00000403625;ENST00000403666;ENST00000405643;ENST00000380908;ENST00000261569;ENST00000432399	.	.	.	5.81	5.81	0.92471	.	0.070586	0.56097	D	0.000028	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-16.4265	20.0784	0.97758	0.0:1.0:0.0:0.0	.	.	.	.	X	1225;1222;1033;1043;1043;1028;961	.	ENSP00000261569:S1028X	S	+	2	0	MAST4	66492056	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.736000	0.93811	0.655000	0.94253	TCA		0.423	MAST4-001	NOVEL	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326324.2			64	186	0	0	0	0	64	186				
GCNT4	51301	broad.mit.edu	37	5	74324700	74324700	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr5:74324700C>T	ENST00000322348.4	-	1	2024	c.1163G>A	c.(1162-1164)cGa>cAa	p.R388Q		NM_016591.2	NP_057675.1	Q9P109	GCNT4_HUMAN	glucosaminyl (N-acetyl) transferase 4, core 2	388					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|homeostasis of number of cells (GO:0048872)|inter-male aggressive behavior (GO:0002121)|kidney morphogenesis (GO:0060993)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)|thyroid hormone metabolic process (GO:0042403)|tissue morphogenesis (GO:0048729)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity (GO:0003829)|N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity (GO:0008109)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|skin(1)|stomach(2)	19		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;8.44e-57)		ACACACGCTTCGAAGGTGAGA	0.418																																						uc003kdn.2		NA																	0				ovary(2)|skin(1)	3						c.(1162-1164)CGA>CAA		core 2 beta-1,6-N-acetylglucosaminyltransferase							84.0	81.0	82.0					5																	74324700		2203	4300	6503	SO:0001583	missense	51301				protein O-linked glycosylation	Golgi membrane|integral to membrane	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity|N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity	g.chr5:74324700C>T	AF132035	CCDS4026.1	5q12	2013-02-25	2010-03-16		ENSG00000176928	ENSG00000176928	2.4.1.102	"""Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"""	17973	protein-coding gene	gene with protein product	"""core 2 beta-1,6-N-acetylglucosaminyltransferase 3"", ""beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase 4"""		"""glucosaminyl (N-acetyl) transferase 4, core 2 (beta-1,6-N-acetylglucosaminyltransferase)"""			10753916	Standard	NM_016591		Approved	C2GNT3	uc003kdn.3	Q9P109	OTTHUMG00000131272	ENST00000322348.4:c.1163G>A	5.37:g.74324700C>T	ENSP00000317027:p.Arg388Gln						p.R388Q	NM_016591	NP_057675	Q9P109	GCNT4_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;8.44e-57)	1	2025	-		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)	388			Lumenal (Potential).			Missense_Mutation	SNP	ENST00000322348.4	37	c.1163G>A	CCDS4026.1	.	.	.	.	.	.	.	.	.	.	.	26.8	4.776092	0.90195	.	.	ENSG00000176928	ENST00000322348	T	0.16073	2.37	6.06	5.19	0.71726	.	0.000000	0.85682	D	0.000000	T	0.40619	0.1124	M	0.67397	2.05	0.51767	D	0.999937	D	0.89917	1.0	D	0.87578	0.998	T	0.17107	-1.0380	10	0.41790	T	0.15	-10.184	15.566	0.76294	0.0:0.934:0.0:0.066	.	388	Q9P109	GCNT4_HUMAN	Q	388	ENSP00000317027:R388Q	ENSP00000317027:R388Q	R	-	2	0	GCNT4	74360456	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.807000	0.86032	1.573000	0.49748	0.650000	0.86243	CGA		0.418	GCNT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254040.1	NM_016591		24	64	0	0	0	0	24	64				
HMGCR	3156	broad.mit.edu	37	5	74646146	74646146	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr5:74646146G>A	ENST00000287936.4	+	8	883	c.727G>A	c.(727-729)Gaa>Aaa	p.E243K	HMGCR_ENST00000343975.5_Missense_Mutation_p.E243K|HMGCR_ENST00000511206.1_Missense_Mutation_p.E243K	NM_000859.2	NP_000850.1	P04035	HMDH_HUMAN	3-hydroxy-3-methylglutaryl-CoA reductase	243	Poly-Glu.				aging (GO:0007568)|cellular lipid metabolic process (GO:0044255)|cholesterol biosynthetic process (GO:0006695)|coenzyme A metabolic process (GO:0015936)|isoprenoid biosynthetic process (GO:0008299)|myoblast differentiation (GO:0045445)|negative regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061179)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of striated muscle cell apoptotic process (GO:0010664)|negative regulation of vasodilation (GO:0045908)|negative regulation of wound healing (GO:0061045)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of skeletal muscle tissue development (GO:0048643)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein tetramerization (GO:0051262)|response to ethanol (GO:0045471)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)|ubiquinone metabolic process (GO:0006743)|visual learning (GO:0008542)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|peroxisomal membrane (GO:0005778)	coenzyme binding (GO:0050662)|hydroxymethylglutaryl-CoA reductase (NADPH) activity (GO:0004420)|hydroxymethylglutaryl-CoA reductase activity (GO:0042282)|NADPH binding (GO:0070402)			breast(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	20		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)		OV - Ovarian serous cystadenocarcinoma(47;2.24e-54)	Atorvastatin(DB01076)|Fluvastatin(DB01095)|Lovastatin(DB00227)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Rosuvastatin(DB01098)|Simvastatin(DB00641)	CCGAGTTTTAGAAGAAGAAGA	0.413																																						uc003kdp.2		NA																	0				ovary(1)	1						c.(727-729)GAA>AAA		3-hydroxy-3-methylglutaryl-Coenzyme A reductase	Atorvastatin(DB01076)|Bezafibrate(DB01393)|Cerivastatin(DB00439)|Fluvastatin(DB01095)|Lovastatin(DB00227)|NADH(DB00157)|Pravastatin(DB00175)|Rosuvastatin(DB01098)|Simvastatin(DB00641)						60.0	63.0	62.0					5																	74646146		2203	4300	6503	SO:0001583	missense	3156				cholesterol biosynthetic process|coenzyme A metabolic process|germ cell migration|gonad development|isoprenoid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|peroxisomal membrane	hydroxymethylglutaryl-CoA reductase (NADPH) activity|NADP binding	g.chr5:74646146G>A		CCDS4027.1, CCDS47234.1	5q13.3-q14	2012-10-02	2010-04-30		ENSG00000113161	ENSG00000113161	1.1.1.88, 1.1.1.34		5006	protein-coding gene	gene with protein product	"""hydroxymethylglutaryl-CoA reductase"", ""3-hydroxy-3-methylglutaryl CoA reductase (NADPH)"""	142910	"""3-hydroxy-3-methylglutaryl-Coenzyme A reductase"""				Standard	NM_000859		Approved		uc003kdp.3	P04035	OTTHUMG00000102069	ENST00000287936.4:c.727G>A	5.37:g.74646146G>A	ENSP00000287936:p.Glu243Lys					HMGCR_uc011cst.1_Missense_Mutation_p.E263K|HMGCR_uc003kdq.2_Missense_Mutation_p.E243K|HMGCR_uc010izn.1_Intron	p.E243K	NM_000859	NP_000850	P04035	HMDH_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;2.24e-54)	8	883	+		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)	243					B7Z3Y9|Q8N190	Missense_Mutation	SNP	ENST00000287936.4	37	c.727G>A	CCDS4027.1	.	.	.	.	.	.	.	.	.	.	G	27.8	4.864563	0.91511	.	.	ENSG00000113161	ENST00000511206;ENST00000544469;ENST00000287936;ENST00000343975	T;T;T	0.44083	0.95;0.95;0.93	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.40743	0.1129	M	0.67953	2.075	0.80722	D	1	B;B;P	0.36222	0.085;0.066;0.544	B;B;B	0.30251	0.012;0.03;0.113	T	0.38950	-0.9637	10	0.07990	T	0.79	-21.2561	20.6593	0.99626	0.0:0.0:1.0:0.0	.	243;243;243	B2R649;P04035-2;P04035	.;.;HMDH_HUMAN	K	243;174;243;243	ENSP00000426745:E243K;ENSP00000287936:E243K;ENSP00000340816:E243K	ENSP00000287936:E243K	E	+	1	0	HMGCR	74681902	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.728000	0.98792	2.885000	0.99019	0.655000	0.94253	GAA		0.413	HMGCR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219877.2			5	65	0	0	0	0	5	65				
S100Z	170591	broad.mit.edu	37	5	76171314	76171314	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr5:76171314G>A	ENST00000317593.4	+	3	362	c.130G>A	c.(130-132)Gaa>Aaa	p.E44K	S100Z_ENST00000513010.1_Missense_Mutation_p.E44K	NM_130772.3	NP_570128.2	Q8WXG8	S100Z_HUMAN	S100 calcium binding protein Z	44	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.						calcium ion binding (GO:0005509)			large_intestine(1)|ovary(1)	2		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;8.91e-51)|Epithelial(54;5.43e-45)|all cancers(79;1.82e-40)		AGAGCTCACGGAATTCCTCTC	0.493																																						uc003kep.1		NA																	0				ovary(1)	1						c.(130-132)GAA>AAA		S100 calcium binding protein Z							105.0	110.0	109.0					5																	76171314		1950	4135	6085	SO:0001583	missense	170591						calcium ion binding	g.chr5:76171314G>A	AF437876	CCDS43333.1	5q13.3	2014-08-12	2006-09-11		ENSG00000171643	ENSG00000171643		"""S100 calcium binding proteins"", ""EF-hand domain containing"""	30367	protein-coding gene	gene with protein product		610103	"""S100 calcium binding protein, zeta"""			11747429	Standard	NM_130772		Approved	Gm625, S100-zeta	uc003keq.4	Q8WXG8	OTTHUMG00000162441	ENST00000317593.4:c.130G>A	5.37:g.76171314G>A	ENSP00000320430:p.Glu44Lys					S100Z_uc003keq.3_Missense_Mutation_p.E44K	p.E44K	NM_130772	NP_570128	Q8WXG8	S100Z_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;8.91e-51)|Epithelial(54;5.43e-45)|all cancers(79;1.82e-40)	3	460	+		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)	44			EF-hand 1.			Missense_Mutation	SNP	ENST00000317593.4	37	c.130G>A	CCDS43333.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.125769	0.77436	.	.	ENSG00000171643	ENST00000513010;ENST00000317593	T;T	0.09350	2.99;2.99	5.73	5.73	0.89815	S100/CaBP-9k-type, calcium binding, subdomain (1);EF-hand-like domain (1);	0.091536	0.64402	D	0.000001	T	0.18383	0.0441	.	.	.	0.47819	D	0.999529	P	0.34699	0.464	B	0.43155	0.41	T	0.01639	-1.1306	9	0.30078	T	0.28	.	19.5017	0.95097	0.0:0.0:1.0:0.0	.	44	Q8WXG8	S100Z_HUMAN	K	44	ENSP00000426768:E44K;ENSP00000320430:E44K	ENSP00000320430:E44K	E	+	1	0	S100Z	76207070	1.000000	0.71417	0.889000	0.34880	0.598000	0.36846	7.498000	0.81546	2.702000	0.92279	0.655000	0.94253	GAA		0.493	S100Z-002	KNOWN	alternative_3_UTR|alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368927.1	NM_130772		32	111	0	0	0	0	32	111				
ATP6AP1L	92270	broad.mit.edu	37	5	81613993	81613993	+	Silent	SNP	C	C	T	rs201337750	byFrequency	TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr5:81613993C>T	ENST00000380167.4	+	10	1874	c.549C>T	c.(547-549)atC>atT	p.I183I	ATP6AP1L_ENST00000508366.1_Intron|ATP6AP1L_ENST00000439350.1_Silent_p.I183I			Q52LC2	VAS1L_HUMAN	ATPase, H+ transporting, lysosomal accessory protein 1-like	183					ATP hydrolysis coupled proton transport (GO:0015991)	integral component of membrane (GO:0016021)|proton-transporting V-type ATPase, V1 domain (GO:0033180)	proton-transporting ATP synthase activity, rotational mechanism (GO:0046933)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1)	12						ATGATCTCATCGCCTCTCCTG	0.557													c|||	2	0.000399361	0.0	0.0014	5008	,	,		17528	0.0		0.001	False		,,,				2504	0.0					uc003khv.2		NA																	0					0						c.(547-549)ATC>ATT		ATPase, H+ transporting, lysosomal accessory		T		0,4406		0,0,2203	79.0	78.0	78.0		549	-9.1	0.0	5		78	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ATP6AP1L	NM_001017971.1		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		183/225	81613993	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	92270				ATP hydrolysis coupled proton transport	integral to membrane|proton-transporting V-type ATPase, V1 domain	hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism	g.chr5:81613993C>T	AK022625	CCDS34196.1	5q14.2	2010-03-10				ENSG00000205464			28091	protein-coding gene	gene with protein product							Standard	XR_112744		Approved		uc003khw.3	Q52LC2		ENST00000380167.4:c.549C>T	5.37:g.81613993C>T						ATP6AP1L_uc003khw.2_Silent_p.I183I	p.I183I	NM_001017971	NP_001017971	Q52LC2	VAS1L_HUMAN			10	1874	+			183						Silent	SNP	ENST00000380167.4	37	c.549C>T	CCDS34196.1																																																																																				0.557	ATP6AP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369562.3	NM_001017971		17	70	0	0	0	0	17	70				
CETN3	1070	broad.mit.edu	37	5	89705476	89705476	+	Start_Codon_SNP	SNP	C	C	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr5:89705476C>T	ENST00000283122.3	-	1	127	c.3G>A	c.(1-3)atG>atA	p.M1I	CETN3_ENST00000522864.1_Start_Codon_SNP_p.M1I|CETN3_ENST00000522565.1_Start_Codon_SNP_p.M1I|CETN3_ENST00000522083.1_Start_Codon_SNP_p.M1I|CETN3_ENST00000522842.1_Start_Codon_SNP_p.M1I	NM_004365.2	NP_004356.2	O15182	CETN3_HUMAN	centrin, EF-hand protein, 3	1					centrosome cycle (GO:0007098)|mitotic nuclear division (GO:0007067)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|ciliary transition zone (GO:0035869)|cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|photoreceptor connecting cilium (GO:0032391)	calcium ion binding (GO:0005509)			lung(3)	3		all_cancers(142;7.93e-09)|all_epithelial(76;2.13e-11)|Lung NSC(167;2.46e-05)|all_lung(232;3.25e-05)|Ovarian(174;0.00832)|Colorectal(57;0.122)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(54;1.42e-32)|Epithelial(54;1.45e-26)|all cancers(79;2.87e-23)		GAGCTAAACTCATTATCTCTT	0.582																																						uc003kjo.2		NA																	0					0						c.(1-3)ATG>ATA		centrin 3							99.0	98.0	99.0					5																	89705476		2203	4300	6503	SO:0001582	initiator_codon_variant	1070				cell division|centrosome cycle|mitosis	centriole	calcium ion binding	g.chr5:89705476C>T	Y12473	CCDS4066.1, CCDS75274.1	5q14.3	2013-01-10	2010-06-24		ENSG00000153140	ENSG00000153140		"""EF-hand domain containing"""	1868	protein-coding gene	gene with protein product	"""CDC31 yeast homolog"", ""EF-hand superfamily member"""	602907	"""centrin, EF-hand protein, 3 (CDC31 yeast homolog)"""			9256449	Standard	XM_006714521		Approved	CEN3	uc003kjo.3	O15182	OTTHUMG00000131326	ENST00000283122.3:c.3G>A	5.37:g.89705476C>T	ENSP00000283122:p.Met1Ile						p.M1I	NM_004365	NP_004356	O15182	CETN3_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;1.42e-32)|Epithelial(54;1.45e-26)|all cancers(79;2.87e-23)	1	128	-		all_cancers(142;7.93e-09)|all_epithelial(76;2.13e-11)|Lung NSC(167;2.46e-05)|all_lung(232;3.25e-05)|Ovarian(174;0.00832)|Colorectal(57;0.122)|Breast(839;0.198)	1					Q53YD2|Q9BS23	Missense_Mutation	SNP	ENST00000283122.3	37	c.3G>A	CCDS4066.1	.	.	.	.	.	.	.	.	.	.	C	19.59	3.856651	0.71834	.	.	ENSG00000153140	ENST00000283122;ENST00000522083;ENST00000522864;ENST00000522565;ENST00000522842	T;T;T;T;T	0.74842	-0.04;-0.6;-0.88;-0.41;-0.54	5.35	5.35	0.76521	.	0.222908	0.50627	D	0.000109	T	0.68742	0.3034	.	.	.	0.80722	D	1	B	0.16603	0.018	B	0.19391	0.025	T	0.66775	-0.5838	9	0.87932	D	0	.	14.4323	0.67259	0.0:1.0:0.0:0.0	.	1	O15182	CETN3_HUMAN	I	1	ENSP00000283122:M1I;ENSP00000428259:M1I;ENSP00000430361:M1I;ENSP00000430409:M1I;ENSP00000429875:M1I	ENSP00000283122:M1I	M	-	3	0	CETN3	89741232	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.577000	0.53885	2.780000	0.95670	0.655000	0.94253	ATG		0.582	CETN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254097.1	NM_004365	Missense_Mutation	38	114	0	0	0	0	38	114				
NR2F1	7025	broad.mit.edu	37	5	92929548	92929548	+	Nonstop_Mutation	SNP	G	G	C			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr5:92929548G>C	ENST00000327111.3	+	3	2959	c.1272G>C	c.(1270-1272)taG>taC	p.*424Y	NR2F1_ENST00000506162.1_3'UTR	NM_005654.4	NP_005645.1	P10589	COT1_HUMAN	nuclear receptor subfamily 2, group F, member 1	0					cerebral cortex regionalization (GO:0021796)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of neuron projection development (GO:0010977)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|retinoic acid-responsive element binding (GO:0044323)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(4)|large_intestine(6)|lung(2)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	21		all_cancers(142;1.62e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0416)|all cancers(79;9.57e-18)		AGTGCTCCTAGACCTTGGGCG	0.597																																						uc003kkj.2		NA																	0				urinary_tract(1)|ovary(1)|lung(1)	3						c.(1270-1272)TAG>TAC		nuclear receptor subfamily 2, group F, member 1							88.0	79.0	82.0					5																	92929548		2203	4300	6503	SO:0001578	stop_lost	7025				negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding	g.chr5:92929548G>C	BC004154	CCDS4068.1	5q14	2013-01-16			ENSG00000175745	ENSG00000175745		"""Nuclear hormone receptors"""	7975	protein-coding gene	gene with protein product		132890		ERBAL3, TFCOUP1		8530078	Standard	NM_005654		Approved	EAR-3, COUP-TFI, TCFCOUP1, SVP44	uc003kkj.3	P10589	OTTHUMG00000119079	ENST00000327111.3:c.1272G>C	5.37:g.92929548G>C	ENSP00000325819:p.*424Tyrext*72						p.*424Y	NM_005654	NP_005645	P10589	COT1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (5;0.0416)|all cancers(79;9.57e-18)	3	2959	+		all_cancers(142;1.62e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19)	424						Nonstop_Mutation	SNP	ENST00000327111.3	37	c.1272G>C	CCDS4068.1	.	.	.	.	.	.	.	.	.	.	G	15.23	2.773279	0.49786	.	.	ENSG00000175745	ENST00000327111	.	.	.	6.17	4.41	0.53225	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.9117	0.58182	0.132:0.0:0.868:0.0	.	.	.	.	Y	424	.	.	X	+	3	2	NR2F1	92955304	.	.	1.000000	0.80357	0.963000	0.63663	.	.	0.946000	0.37632	0.655000	0.94253	TAG		0.597	NR2F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239293.2	NM_005654		8	85	0	0	0	0	8	85				
FBN2	2201	broad.mit.edu	37	5	127654636	127654636	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr5:127654636G>C	ENST00000508053.1	-	41	5503	c.4529C>G	c.(4528-4530)cCt>cGt	p.P1510R	FBN2_ENST00000262464.4_Missense_Mutation_p.P1510R			P35556	FBN2_HUMAN	fibrillin 2	1510	EGF-like 25; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		AAACATTCCAGGCAGGTTATT	0.358																																						uc003kuu.2		NA																	0				ovary(8)|large_intestine(4)|pancreas(1)|kidney(1)|skin(1)	15						c.(4528-4530)CCT>CGT		fibrillin 2 precursor							106.0	102.0	103.0					5																	127654636		2203	4300	6503	SO:0001583	missense	2201				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	g.chr5:127654636G>C	U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"""fibrillin 5"""	612570	"""congenital contractural arachnodactyly"""	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.4529C>G	5.37:g.127654636G>C	ENSP00000424571:p.Pro1510Arg						p.P1510R	NM_001999	NP_001990	P35556	FBN2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)	35	4968	-		all_cancers(142;0.0216)|Prostate(80;0.0551)	1510			EGF-like 25; calcium-binding.		B4DU01|Q59ES6	Missense_Mutation	SNP	ENST00000508053.1	37	c.4529C>G	CCDS34222.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.604511	0.87157	.	.	ENSG00000138829	ENST00000262464;ENST00000508053	D;D	0.91740	-2.9;-2.9	4.94	4.94	0.65067	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.64402	D	0.000005	D	0.94870	0.8342	L	0.58669	1.825	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.92703	0.6176	10	0.24483	T	0.36	.	18.7161	0.91677	0.0:0.0:1.0:0.0	.	1510	P35556	FBN2_HUMAN	R	1510	ENSP00000262464:P1510R;ENSP00000424571:P1510R	ENSP00000262464:P1510R	P	-	2	0	FBN2	127682535	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	9.601000	0.98297	2.726000	0.93360	0.655000	0.94253	CCT		0.358	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2	NM_001999		5	113	0	0	0	0	5	113				
SLC27A6	28965	broad.mit.edu	37	5	128364098	128364098	+	Silent	SNP	C	C	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr5:128364098C>T	ENST00000262462.4	+	8	2525	c.1515C>T	c.(1513-1515)ttC>ttT	p.F505F	SLC27A6_ENST00000395266.1_Silent_p.F505F|SLC27A6_ENST00000506176.1_Silent_p.F505F			Q9Y2P4	S27A6_HUMAN	solute carrier family 27 (fatty acid transporter), member 6	505					long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty acid transport (GO:0015909)|transmembrane transport (GO:0055085)|very long-chain fatty acid metabolic process (GO:0000038)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	long-chain fatty acid-CoA ligase activity (GO:0004467)|nucleotide binding (GO:0000166)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1)	44		all_cancers(142;0.0483)|Prostate(80;0.055)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)		TGTTGGATTTCATACAGGAAG	0.343																																						uc003kuy.2		NA																	0					0						c.(1513-1515)TTC>TTT		solute carrier family 27 (fatty acid							98.0	94.0	95.0					5																	128364098		2203	4299	6502	SO:0001819	synonymous_variant	28965				long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process	integral to membrane|sarcolemma	fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding	g.chr5:128364098C>T	AF064254	CCDS4145.1	5q23.3	2013-05-22			ENSG00000113396	ENSG00000113396		"""Acyl-CoA synthetase family"", ""Solute carriers"""	11000	protein-coding gene	gene with protein product	"""fatty-acid-Coenzyme A ligase, very long-chain 2"""	604196				12556534, 10479480	Standard	XM_005271967		Approved	FATP6, VLCS-H1, FACVL2, ACSVL2	uc003kuy.3	Q9Y2P4	OTTHUMG00000128991	ENST00000262462.4:c.1515C>T	5.37:g.128364098C>T						SLC27A6_uc003kuz.2_Silent_p.F505F	p.F505F	NM_014031	NP_054750	Q9Y2P4	S27A6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)	9	1911	+		all_cancers(142;0.0483)|Prostate(80;0.055)	505					Q6IAM5|Q7Z6E6|Q86YF6	Silent	SNP	ENST00000262462.4	37	c.1515C>T	CCDS4145.1																																																																																				0.343	SLC27A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250980.1	NM_014031		18	68	0	0	0	0	18	68				
SPOCK1	6695	broad.mit.edu	37	5	136403477	136403477	+	Silent	SNP	G	G	A	rs374427870		TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr5:136403477G>A	ENST00000394945.1	-	6	685	c.516C>T	c.(514-516)ctC>ctT	p.L172L	SPOCK1_ENST00000282223.7_Silent_p.L172L	NM_004598.3	NP_004589.1	Q08629	TICN1_HUMAN	sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 1	172	Kazal-like. {ECO:0000255|PROSITE- ProRule:PRU00798}.				cell adhesion (GO:0007155)|central nervous system neuron differentiation (GO:0021953)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of neuron projection development (GO:0010977)|nervous system development (GO:0007399)|neurogenesis (GO:0022008)|neuron migration (GO:0001764)|regulation of cell growth (GO:0001558)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|postsynaptic density (GO:0014069)|proteinaceous extracellular matrix (GO:0005578)|sarcoplasm (GO:0016528)	calcium ion binding (GO:0005509)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|metalloendopeptidase inhibitor activity (GO:0008191)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.L172L(2)		breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			AGAGGGTGGCGAGGCTTTTGC	0.527																																						uc003lbo.2		NA																	2	Substitution - coding silent(2)		breast(1)|endometrium(1)	ovary(1)	1						c.(514-516)CTC>CTT		sparc/osteonectin, cwcv and kazal-like domains		G		0,4406		0,0,2203	150.0	135.0	140.0		516	3.5	1.0	5		140	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	SPOCK1	NM_004598.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		172/440	136403477	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	6695				cell adhesion|cell proliferation|cellular component movement|nervous system development|signal transduction	proteinaceous extracellular matrix	calcium ion binding	g.chr5:136403477G>A	AF231124	CCDS4191.1	5q31.2	2008-02-05	2005-11-04	2005-11-04	ENSG00000152377	ENSG00000152377			11251	protein-coding gene	gene with protein product		602264	"""sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican)"""	TIC1, SPOCK		9545645	Standard	NM_004598		Approved	testican-1	uc003lbp.3	Q08629	OTTHUMG00000129157	ENST00000394945.1:c.516C>T	5.37:g.136403477G>A						SPOCK1_uc003lbp.2_Silent_p.L172L	p.L172L	NM_004598	NP_004589	Q08629	TICN1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		5	707	-			172			Kazal-like.		B3KSW3|Q59EW0|Q8N630|Q9UCL8	Silent	SNP	ENST00000394945.1	37	c.516C>T	CCDS4191.1																																																																																				0.527	SPOCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251222.1	NM_004598		48	159	0	0	0	0	48	159				
KLHL3	26249	broad.mit.edu	37	5	136964011	136964011	+	Silent	SNP	G	G	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr5:136964011G>A	ENST00000309755.4	-	13	2009	c.1566C>T	c.(1564-1566)gaC>gaT	p.D522D	KLHL3_ENST00000506873.1_5'UTR|KLHL3_ENST00000541417.1_3'UTR|KLHL3_ENST00000506491.1_Silent_p.D440D|KLHL3_ENST00000508657.1_Silent_p.D490D	NM_017415.2	NP_059111.2	Q9UH77	KLHL3_HUMAN	kelch-like family member 3	522					distal tubule morphogenesis (GO:0072156)|ion homeostasis (GO:0050801)|protein K48-linked ubiquitination (GO:0070936)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|renal sodium ion absorption (GO:0070294)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)	structural molecule activity (GO:0005198)			breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|stomach(1)|upper_aerodigestive_tract(1)	21		all_hematologic(541;3.67e-07)|Breast(839;7.61e-05)|Prostate(281;0.000825)|Ovarian(839;0.0481)|all_lung(232;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)	GBM - Glioblastoma multiforme(465;0.0223)		ACATGTTCATGTCTGCCACTT	0.547																																						uc010jek.2		NA																	0					0						c.(1564-1566)GAC>GAT		kelch-like 3							248.0	211.0	223.0					5																	136964011		2203	4300	6503	SO:0001819	synonymous_variant	26249					cytoplasm|cytoskeleton	actin binding|structural molecule activity	g.chr5:136964011G>A	AB032955	CCDS4192.1, CCDS58969.1, CCDS58970.1	5q31	2013-01-30	2013-01-30		ENSG00000146021	ENSG00000146021		"""Kelch-like"", ""BTB/POZ domain containing"""	6354	protein-coding gene	gene with protein product		605775	"""kelch (Drosophila)-like 3"", ""kelch-like 3 (Drosophila)"""			10843806	Standard	NM_017415		Approved	KIAA1129	uc010jek.3	Q9UH77	OTTHUMG00000129155	ENST00000309755.4:c.1566C>T	5.37:g.136964011G>A						KLHL3_uc011cyc.1_Silent_p.D257D|KLHL3_uc003lbr.3_Silent_p.D440D|KLHL3_uc011cyd.1_RNA	p.D522D	NM_017415	NP_059111	Q9UH77	KLHL3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)	GBM - Glioblastoma multiforme(465;0.0223)	13	2010	-		all_hematologic(541;3.67e-07)|Breast(839;7.61e-05)|Prostate(281;0.000825)|Ovarian(839;0.0481)|all_lung(232;0.198)	522			Kelch 5.		B2RBK7|Q9UH75|Q9UH76|Q9ULU0|Q9Y6V6	Silent	SNP	ENST00000309755.4	37	c.1566C>T	CCDS4192.1																																																																																				0.547	KLHL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251220.2			29	195	0	0	0	0	29	195				
KLHL3	26249	broad.mit.edu	37	5	137028128	137028128	+	Silent	SNP	G	G	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr5:137028128G>A	ENST00000309755.4	-	5	815	c.372C>T	c.(370-372)ctC>ctT	p.L124L	KLHL3_ENST00000541417.1_Missense_Mutation_p.S6F|KLHL3_ENST00000506491.1_Silent_p.L42L|KLHL3_ENST00000394937.3_Silent_p.L124L|KLHL3_ENST00000508657.1_Silent_p.L92L	NM_017415.2	NP_059111.2	Q9UH77	KLHL3_HUMAN	kelch-like family member 3	124					distal tubule morphogenesis (GO:0072156)|ion homeostasis (GO:0050801)|protein K48-linked ubiquitination (GO:0070936)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|renal sodium ion absorption (GO:0070294)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)	structural molecule activity (GO:0005198)			breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|stomach(1)|upper_aerodigestive_tract(1)	21		all_hematologic(541;3.67e-07)|Breast(839;7.61e-05)|Prostate(281;0.000825)|Ovarian(839;0.0481)|all_lung(232;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)	GBM - Glioblastoma multiforme(465;0.0223)		TGGCTGCCGGGAGCAGCACCT	0.527																																						uc010jek.2		NA																	0					0						c.(370-372)CTC>CTT		kelch-like 3							58.0	52.0	54.0					5																	137028128		2203	4300	6503	SO:0001819	synonymous_variant	26249					cytoplasm|cytoskeleton	actin binding|structural molecule activity	g.chr5:137028128G>A	AB032955	CCDS4192.1, CCDS58969.1, CCDS58970.1	5q31	2013-01-30	2013-01-30		ENSG00000146021	ENSG00000146021		"""Kelch-like"", ""BTB/POZ domain containing"""	6354	protein-coding gene	gene with protein product		605775	"""kelch (Drosophila)-like 3"", ""kelch-like 3 (Drosophila)"""			10843806	Standard	NM_017415		Approved	KIAA1129	uc010jek.3	Q9UH77	OTTHUMG00000129155	ENST00000309755.4:c.372C>T	5.37:g.137028128G>A						KLHL3_uc003lbr.3_Silent_p.L42L|KLHL3_uc011cyd.1_RNA|MYOT_uc011cye.1_Intron|KLHL3_uc010jem.1_Silent_p.L84L|KLHL3_uc010jen.1_RNA|KLHL3_uc003lbs.1_5'UTR	p.L124L	NM_017415	NP_059111	Q9UH77	KLHL3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)	GBM - Glioblastoma multiforme(465;0.0223)	5	816	-		all_hematologic(541;3.67e-07)|Breast(839;7.61e-05)|Prostate(281;0.000825)|Ovarian(839;0.0481)|all_lung(232;0.198)	124					B2RBK7|Q9UH75|Q9UH76|Q9ULU0|Q9Y6V6	Silent	SNP	ENST00000309755.4	37	c.372C>T	CCDS4192.1	.	.	.	.	.	.	.	.	.	.	G	4.428	0.079123	0.08533	.	.	ENSG00000146021	ENST00000541417	T	0.61627	0.09	4.22	-2.79	0.05841	.	.	.	.	.	T	0.52322	0.1727	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.55140	-0.8187	6	0.87932	D	0	.	1.0486	0.01575	0.2587:0.2073:0.3492:0.1848	.	.	.	.	F	6	ENSP00000440319:S6F	ENSP00000440319:S6F	S	-	2	0	KLHL3	137056027	1.000000	0.71417	0.971000	0.41717	0.445000	0.32107	0.797000	0.26999	-0.641000	0.05487	-2.695000	0.00139	TCC		0.527	KLHL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251220.2			8	43	0	0	0	0	8	43				
BRD8	10902	broad.mit.edu	37	5	137497522	137497522	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr5:137497522C>T	ENST00000254900.5	-	17	2583	c.2212G>A	c.(2212-2214)Gat>Aat	p.D738N	BRD8_ENST00000402931.1_Missense_Mutation_p.D738N|BRD8_ENST00000230901.5_Missense_Mutation_p.D811N|BRD8_ENST00000515014.1_5'UTR|BRD8_ENST00000455658.2_Missense_Mutation_p.D697N|BRD8_ENST00000411594.2_Missense_Mutation_p.D741N	NM_139199.1	NP_631938	Q9H0E9	BRD8_HUMAN	bromodomain containing 8	738	Bromo 1. {ECO:0000255|PROSITE- ProRule:PRU00035}.				cell surface receptor signaling pathway (GO:0007166)|chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|intracellular receptor signaling pathway (GO:0030522)|regulation of growth (GO:0040008)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)	mitochondrion (GO:0005739)|NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Swr1 complex (GO:0000812)	sequence-specific DNA binding transcription factor activity (GO:0003700)|thyroid hormone receptor activity (GO:0004887)			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(3)|urinary_tract(1)	35			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			GCTATGTCATCTGTAACAGGC	0.463																																						uc003lcf.1		NA																	0				ovary(1)	1						c.(2212-2214)GAT>AAT		bromodomain containing 8 isoform 2							94.0	85.0	88.0					5																	137497522		2203	4300	6503	SO:0001583	missense	10902				cell surface receptor linked signaling pathway|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription from RNA polymerase II promoter	mitochondrion|NuA4 histone acetyltransferase complex	sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity	g.chr5:137497522C>T	AF016270	CCDS4198.1, CCDS34241.1, CCDS54907.1	5q31	2008-02-05			ENSG00000112983	ENSG00000112983			19874	protein-coding gene	gene with protein product		602848				8611617, 9368056	Standard	NM_001164326		Approved	SMAP, p120	uc003lcf.1	Q9H0E9	OTTHUMG00000129204	ENST00000254900.5:c.2212G>A	5.37:g.137497522C>T	ENSP00000254900:p.Asp738Asn					BRD8_uc003lcc.1_RNA|BRD8_uc011cyl.1_Missense_Mutation_p.D517N|BRD8_uc003lcg.2_Missense_Mutation_p.D811N|BRD8_uc003lci.2_Missense_Mutation_p.D741N|BRD8_uc003lch.2_Missense_Mutation_p.D632N|BRD8_uc011cym.1_Missense_Mutation_p.D722N|BRD8_uc010jer.1_Missense_Mutation_p.D707N|BRD8_uc011cyn.1_Missense_Mutation_p.D697N	p.D738N	NM_139199	NP_631938	Q9H0E9	BRD8_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)		17	2267	-			738			Bromo 1.		O43178|Q15355|Q58AB0|Q59GN0|Q969M9	Missense_Mutation	SNP	ENST00000254900.5	37	c.2212G>A	CCDS4198.1	.	.	.	.	.	.	.	.	.	.	C	35	5.459932	0.96240	.	.	ENSG00000112983	ENST00000254900;ENST00000454473;ENST00000418329;ENST00000230901;ENST00000402931;ENST00000411594;ENST00000239899;ENST00000455658	T;T;T;T;T;T;T	0.29655	1.56;1.56;1.56;1.56;1.56;1.56;1.56	6.17	6.17	0.99709	Bromodomain (6);	0.000000	0.85682	D	0.000000	T	0.62539	0.2436	M	0.83852	2.665	0.80722	D	1	D;D;D;B;P;P;D;D	0.89917	1.0;0.999;1.0;0.305;0.739;0.698;0.999;0.957	D;D;D;P;B;P;D;P	0.87578	0.996;0.986;0.998;0.466;0.364;0.56;0.981;0.751	T	0.63690	-0.6580	10	0.72032	D	0.01	-16.6815	19.8676	0.96824	0.0:1.0:0.0:0.0	.	697;722;517;811;741;632;811;738	F8W820;B4DN43;B4DMS9;A8K1N6;Q9H0E9-4;Q9H0E9-3;Q9H0E9-2;Q9H0E9	.;.;.;.;.;.;.;BRD8_HUMAN	N	738;767;736;811;738;741;632;697	ENSP00000254900:D738N;ENSP00000398067:D767N;ENSP00000398873:D736N;ENSP00000230901:D811N;ENSP00000384845:D738N;ENSP00000394330:D741N;ENSP00000408396:D697N	ENSP00000230901:D811N	D	-	1	0	BRD8	137525421	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.089000	0.71384	2.941000	0.99782	0.655000	0.94253	GAT		0.463	BRD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251282.3	NM_006696		16	65	0	0	0	0	16	65				
KDM3B	51780	broad.mit.edu	37	5	137754821	137754821	+	Silent	SNP	G	G	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr5:137754821G>A	ENST00000314358.5	+	14	3815	c.3615G>A	c.(3613-3615)ctG>ctA	p.L1205L	KDM3B_ENST00000394866.1_Silent_p.L861L|KDM3B_ENST00000542866.1_Silent_p.L237L|KDM3B_ENST00000508386.1_3'UTR	NM_016604.3	NP_057688	Q7LBC6	KDM3B_HUMAN	lysine (K)-specific demethylase 3B	1205					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						ATAGTGAACTGAAAGCCATCA	0.522																																						uc003lcy.1		NA																	0				ovary(3)|upper_aerodigestive_tract(2)|lung(2)|kidney(2)|central_nervous_system(1)|skin(1)	11						c.(3613-3615)CTG>CTA		jumonji domain containing 1B							83.0	78.0	80.0					5																	137754821		2203	4300	6503	SO:0001819	synonymous_variant	51780				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr5:137754821G>A	AF251039	CCDS34242.1	5q31	2011-07-01	2009-04-06	2009-04-06	ENSG00000120733	ENSG00000120733		"""Chromatin-modifying enzymes / K-demethylases"""	1337	protein-coding gene	gene with protein product		609373	"""chromosome 5 open reading frame 7"", ""jumonji domain containing 1B"""	C5orf7, JMJD1B		15138608	Standard	NM_016604		Approved	KIAA1082, NET22	uc003lcy.1	Q7LBC6	OTTHUMG00000163469	ENST00000314358.5:c.3615G>A	5.37:g.137754821G>A						KDM3B_uc010jew.1_Silent_p.L861L|KDM3B_uc011cys.1_Silent_p.L237L	p.L1205L	NM_016604	NP_057688	Q7LBC6	KDM3B_HUMAN			14	3815	+			1205					A6H8X7|Q9BVH6|Q9BW93|Q9BZ52|Q9NYF4|Q9UPS0	Silent	SNP	ENST00000314358.5	37	c.3615G>A	CCDS34242.1																																																																																				0.522	KDM3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373597.1	NM_016604		20	50	0	0	0	0	20	50				
PCDHA10	56139	broad.mit.edu	37	5	140236754	140236754	+	Missense_Mutation	SNP	C	C	G	rs199584063		TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr5:140236754C>G	ENST00000307360.5	+	1	1121	c.1121C>G	c.(1120-1122)tCt>tGt	p.S374C	PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000506939.2_Missense_Mutation_p.S374C|PCDHA6_ENST00000529310.1_Intron	NM_018901.2	NP_061724.1	Q9Y5I2	PCDAA_HUMAN	protocadherin alpha 10	374	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATCAGCGTTTCTGACCATGAT	0.488																																						uc003lhx.2		NA																	0				ovary(2)|skin(2)|breast(1)	5						c.(1120-1122)TCT>TGT		protocadherin alpha 10 isoform 1 precursor							155.0	137.0	143.0					5																	140236754		2196	4277	6473	SO:0001583	missense	56139				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140236754C>G	AF152475	CCDS34255.1, CCDS54921.1, CCDS75325.1	5q31	2010-11-26			ENSG00000250120	ENSG00000250120		"""Cadherins / Protocadherins : Clustered"""	8664	other	complex locus constituent	"""KIAA0345-like 4"", ""ortholog to mouse CNR8"""	606316		CNRS8		10380929	Standard	NM_018901		Approved	CNR8, CRNR8, CNRN8, PCDH-ALPHA10		Q9Y5I2	OTTHUMG00000163372	ENST00000307360.5:c.1121C>G	5.37:g.140236754C>G	ENSP00000304234:p.Ser374Cys					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_Missense_Mutation_p.S374C|PCDHA10_uc011dad.1_Missense_Mutation_p.S374C	p.S374C	NM_018901	NP_061724	Q9Y5I2	PCDAA_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1121	+			374			Cadherin 4.|Extracellular (Potential).		A1L493|O75280|Q9NRU2	Missense_Mutation	SNP	ENST00000307360.5	37	c.1121C>G	CCDS54921.1	.	.	.	.	.	.	.	.	.	.	C	4.389	0.071789	0.08436	.	.	ENSG00000250120	ENST00000506939;ENST00000307360	T;T	0.54071	4.64;0.59	4.0	3.13	0.36017	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.75221	0.3820	H	0.94658	3.565	0.09310	N	1	D;D;D	0.76494	0.998;0.999;0.995	D;D;P	0.68483	0.958;0.951;0.879	T	0.63668	-0.6585	9	0.46703	T	0.11	.	6.8151	0.23826	0.2958:0.6192:0.0:0.0851	.	374;374;374	Q9Y5I2-3;Q9Y5I2;Q9Y5I2-2	.;PCDAA_HUMAN;.	C	374	ENSP00000421030:S374C;ENSP00000304234:S374C	ENSP00000304234:S374C	S	+	2	0	PCDHA10	140216938	0.000000	0.05858	0.072000	0.20136	0.070000	0.16714	-2.560000	0.00921	1.014000	0.39417	0.561000	0.74099	TCT		0.488	PCDHA10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372895.2	NM_018901		33	133	0	0	0	0	33	133				
PCDHA10	56139	broad.mit.edu	37	5	140236766	140236766	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr5:140236766C>T	ENST00000307360.5	+	1	1133	c.1133C>T	c.(1132-1134)tCa>tTa	p.S378L	PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000506939.2_Missense_Mutation_p.S378L|PCDHA6_ENST00000529310.1_Intron	NM_018901.2	NP_061724.1	Q9Y5I2	PCDAA_HUMAN	protocadherin alpha 10	378	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GACCATGATTCAGGAGCCAAC	0.512																																						uc003lhx.2		NA																	0				ovary(2)|skin(2)|breast(1)	5						c.(1132-1134)TCA>TTA		protocadherin alpha 10 isoform 1 precursor							156.0	136.0	143.0					5																	140236766		2196	4276	6472	SO:0001583	missense	56139				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140236766C>T	AF152475	CCDS34255.1, CCDS54921.1, CCDS75325.1	5q31	2010-11-26			ENSG00000250120	ENSG00000250120		"""Cadherins / Protocadherins : Clustered"""	8664	other	complex locus constituent	"""KIAA0345-like 4"", ""ortholog to mouse CNR8"""	606316		CNRS8		10380929	Standard	NM_018901		Approved	CNR8, CRNR8, CNRN8, PCDH-ALPHA10		Q9Y5I2	OTTHUMG00000163372	ENST00000307360.5:c.1133C>T	5.37:g.140236766C>T	ENSP00000304234:p.Ser378Leu					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_Missense_Mutation_p.S378L|PCDHA10_uc011dad.1_Missense_Mutation_p.S378L	p.S378L	NM_018901	NP_061724	Q9Y5I2	PCDAA_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1133	+			378			Cadherin 4.|Extracellular (Potential).		A1L493|O75280|Q9NRU2	Missense_Mutation	SNP	ENST00000307360.5	37	c.1133C>T	CCDS54921.1	.	.	.	.	.	.	.	.	.	.	C	11.22	1.575412	0.28092	.	.	ENSG00000250120	ENST00000506939;ENST00000307360	T;T	0.49432	4.63;0.78	4.0	3.1	0.35709	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.61702	0.2368	M	0.78344	2.41	0.18873	N	0.999984	D;P;P	0.53745	0.962;0.589;0.566	P;B;B	0.53809	0.735;0.236;0.274	T	0.56025	-0.8047	9	0.87932	D	0	.	13.0826	0.59121	0.1618:0.8382:0.0:0.0	.	378;378;378	Q9Y5I2-3;Q9Y5I2;Q9Y5I2-2	.;PCDAA_HUMAN;.	L	378	ENSP00000421030:S378L;ENSP00000304234:S378L	ENSP00000304234:S378L	S	+	2	0	PCDHA10	140216950	0.257000	0.24022	0.159000	0.22649	0.176000	0.22953	3.029000	0.49712	0.968000	0.38212	0.561000	0.74099	TCA		0.512	PCDHA10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372895.2	NM_018901		32	136	0	0	0	0	32	136				
PCDHGA7	56108	broad.mit.edu	37	5	140764372	140764372	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr5:140764372G>C	ENST00000518325.1	+	1	1906	c.1906G>C	c.(1906-1908)Gat>Cat	p.D636H	PCDHGA6_ENST00000517434.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018920.2	NP_061743.1	Q9Y5G6	PCDG7_HUMAN	protocadherin gamma subfamily A, 7	636	Cadherin 6. {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(1)|endometrium(8)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|skin(1)|stomach(3)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTGGACAGAGATGCCCTCAA	0.652																																						uc003lka.1		NA																	0					0						c.(1906-1908)GAT>CAT		protocadherin gamma subfamily A, 7 isoform 1							35.0	42.0	40.0					5																	140764372		2200	4299	6499	SO:0001583	missense	56108				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140764372G>C	AF152514	CCDS54927.1, CCDS75336.1	5q31	2010-01-26				ENSG00000253537		"""Cadherins / Protocadherins : Clustered"""	8705	other	protocadherin		606294				10380929	Standard	NM_018920		Approved	PCDH-GAMMA-A7		Q9Y5G6		ENST00000518325.1:c.1906G>C	5.37:g.140764372G>C	ENSP00000430024:p.Asp636His					PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003ljz.1_Missense_Mutation_p.D636H	p.D636H	NM_018920	NP_061743	Q9Y5G6	PCDG7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1906	+			636			Extracellular (Potential).|Cadherin 6.		B2RN87|Q9Y5D0	Missense_Mutation	SNP	ENST00000518325.1	37	c.1906G>C	CCDS54927.1	.	.	.	.	.	.	.	.	.	.	.	13.01	2.109807	0.37242	.	.	ENSG00000253537	ENST00000518325	T	0.52754	0.65	4.9	4.9	0.64082	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.67420	0.2891	M	0.73598	2.24	0.34767	D	0.733359	D;D	0.89917	1.0;0.999	D;D	0.87578	0.998;0.979	T	0.77895	-0.2417	9	0.87932	D	0	.	12.8923	0.58078	0.0812:0.0:0.9188:0.0	.	636;636	Q9Y5G6;Q9Y5G6-2	PCDG7_HUMAN;.	H	636	ENSP00000430024:D636H	ENSP00000430024:D636H	D	+	1	0	PCDHGA7	140744556	1.000000	0.71417	0.994000	0.49952	0.117000	0.20001	6.344000	0.72991	2.413000	0.81919	0.655000	0.94253	GAT		0.652	PCDHGA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374744.1	NM_018920		16	46	0	0	0	0	16	46				
PCDHGA8	9708	broad.mit.edu	37	5	140774356	140774356	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr5:140774356C>T	ENST00000398604.2	+	1	1976	c.1976C>T	c.(1975-1977)aCg>aTg	p.T659M	PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_032088.1	NP_114477.1	Q9Y5G5	PCDG8_HUMAN	protocadherin gamma subfamily A, 8	659	Cadherin 6. {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)			endometrium(6)|kidney(6)|large_intestine(6)|lung(30)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCACTGTCACGCTCACCGTA	0.642																																						uc003lkd.1		NA																	0					0						c.(1975-1977)ACG>ATG		protocadherin gamma subfamily A, 8 isoform 1							36.0	42.0	40.0					5																	140774356		2202	4298	6500	SO:0001583	missense	9708				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140774356C>T	AF152515	CCDS47291.1, CCDS75338.1	5q31	2010-01-26			ENSG00000253767	ENSG00000253767		"""Cadherins / Protocadherins : Clustered"""	8706	other	protocadherin		606295				10380929	Standard	NM_014004		Approved	KIAA0327, PCDH-GAMMA-A8		Q9Y5G5	OTTHUMG00000164053	ENST00000398604.2:c.1976C>T	5.37:g.140774356C>T	ENSP00000381605:p.Thr659Met					PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkb.3_Missense_Mutation_p.T659M	p.T659M	NM_032088	NP_114477	Q9Y5G5	PCDG8_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2874	+			659			Extracellular (Potential).|Cadherin 6.		A7MCZ4|O15039	Missense_Mutation	SNP	ENST00000398604.2	37	c.1976C>T	CCDS47291.1	.	.	.	.	.	.	.	.	.	.	.	10.15	1.270078	0.23221	.	.	ENSG00000253767	ENST00000398604	T	0.55588	0.51	4.99	0.815	0.18763	Cadherin (4);Cadherin-like (1);	0.284430	0.17574	U	0.169343	T	0.64260	0.2582	M	0.77103	2.36	0.09310	N	0.999997	D;D	0.71674	0.974;0.998	P;P	0.58820	0.656;0.846	T	0.56123	-0.8031	10	0.72032	D	0.01	.	8.7668	0.34708	0.0:0.6668:0.1188:0.2144	.	659;659	Q9Y5G5;Q9Y5G5-2	PCDG8_HUMAN;.	M	659	ENSP00000381605:T659M	ENSP00000381605:T659M	T	+	2	0	PCDHGA8	140754540	0.000000	0.05858	0.009000	0.14445	0.315000	0.28087	0.251000	0.18257	0.182000	0.20032	-0.156000	0.13503	ACG		0.642	PCDHGA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376972.1	NM_032088		10	36	0	0	0	0	10	36				
PCDHGA10	56106	broad.mit.edu	37	5	140793078	140793078	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr5:140793078C>G	ENST00000398610.2	+	1	336	c.336C>G	c.(334-336)atC>atG	p.I112M	PCDHGA8_ENST00000398604.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018913.2|NM_032090.1	NP_061736.1|NP_114479.1	Q9Y5H3	PCDGA_HUMAN	protocadherin gamma subfamily A, 10	112	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTTTTAATATCCTTGTGGAAG	0.488																																						uc003lkl.1		NA																	0					0						c.(334-336)ATC>ATG		protocadherin gamma subfamily A, 10 isoform 1							68.0	80.0	76.0					5																	140793078		2110	4265	6375	SO:0001583	missense	56106				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140793078C>G		CCDS47292.1, CCDS75343.1	5q31	2010-01-26			ENSG00000253846	ENSG00000253846		"""Cadherins / Protocadherins : Clustered"""	8697	other	protocadherin		606297				10380929	Standard	NM_018913		Approved	PCDH-GAMMA-A10		Q9Y5H3	OTTHUMG00000163688	ENST00000398610.2:c.336C>G	5.37:g.140793078C>G	ENSP00000381611:p.Ile112Met					PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc011day.1_Missense_Mutation_p.I112M	p.I112M	NM_018913	NP_061736	Q9Y5H3	PCDGA_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	336	+			112			Cadherin 1.|Extracellular (Potential).		Q9Y5E0	Missense_Mutation	SNP	ENST00000398610.2	37	c.336C>G	CCDS47292.1	.	.	.	.	.	.	.	.	.	.	c	13.26	2.183396	0.38511	.	.	ENSG00000253846	ENST00000398610	T	0.48522	0.81	5.54	2.09	0.27110	Cadherin, N-terminal (1);Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.65575	0.2704	M	0.87456	2.885	0.21355	N	0.999717	D;D	0.67145	0.996;0.979	D;D	0.66847	0.94;0.947	T	0.52946	-0.8507	9	0.59425	D	0.04	.	4.4895	0.11806	0.0:0.3432:0.2312:0.4256	.	112;112	Q9Y5H3-2;Q9Y5H3	.;PCDGA_HUMAN	M	112	ENSP00000381611:I112M	ENSP00000381611:I112M	I	+	3	3	PCDHGA10	140773262	0.000000	0.05858	1.000000	0.80357	0.991000	0.79684	-1.417000	0.02464	0.588000	0.29660	0.557000	0.71058	ATC		0.488	PCDHGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374747.1	NM_018913		42	99	0	0	0	0	42	99				
ARHGAP26	23092	broad.mit.edu	37	5	142283207	142283207	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr5:142283207G>T	ENST00000274498.4	+	8	1183	c.805G>T	c.(805-807)Gag>Tag	p.E269*	ARHGAP26_ENST00000378004.3_Nonsense_Mutation_p.E269*	NM_015071.4	NP_055886.1	Q9UNA1	RHG26_HUMAN	Rho GTPase activating protein 26	269	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				actin cytoskeleton organization (GO:0030036)|filopodium assembly (GO:0046847)|nervous system development (GO:0007399)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)	phospholipid binding (GO:0005543)|Rho GTPase activator activity (GO:0005100)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(7)|ovary(1)	25		all_hematologic(541;0.0416)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTACACCATGGAGGGATACCT	0.473																																						uc011dbj.1		NA																	0				ovary(1)	1						c.(805-807)GAG>TAG		GTPase regulator associated with the focal							97.0	83.0	88.0					5																	142283207		2203	4300	6503	SO:0001587	stop_gained	23092				actin cytoskeleton organization|filopodium assembly|nervous system development|small GTPase mediated signal transduction	cytoskeleton|cytosol|focal adhesion	cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding	g.chr5:142283207G>T	AB014521	CCDS4277.1, CCDS47297.1	5q31	2011-06-29			ENSG00000145819	ENSG00000145819		"""Rho GTPase activating proteins"""	17073	protein-coding gene	gene with protein product	"""GTPase regulator associated with the focal adhesion kinase pp125"""	605370				9858476, 8649427	Standard	NM_001135608		Approved	GRAF, KIAA0621, OPHN1L, OPHN1L1	uc011dbj.2	Q9UNA1	OTTHUMG00000059705	ENST00000274498.4:c.805G>T	5.37:g.142283207G>T	ENSP00000274498:p.Glu269*					ARHGAP26_uc003lmt.2_Nonsense_Mutation_p.E269*|ARHGAP26_uc003lmw.2_Nonsense_Mutation_p.E269*	p.E269*	NM_015071	NP_055886	Q9UNA1	RHG26_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		8	840	+		all_hematologic(541;0.0416)	269			PH.		O75117|Q5D035|Q9BYS6|Q9BYS7|Q9UJ00	Nonsense_Mutation	SNP	ENST00000274498.4	37	c.805G>T	CCDS4277.1	.	.	.	.	.	.	.	.	.	.	G	43	10.023443	0.99319	.	.	ENSG00000145819	ENST00000274498;ENST00000378004	.	.	.	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.3843	0.94550	0.0:0.0:1.0:0.0	.	.	.	.	X	269	.	ENSP00000274498:E269X	E	+	1	0	ARHGAP26	142263391	1.000000	0.71417	1.000000	0.80357	0.819000	0.46315	9.476000	0.97823	2.574000	0.86865	0.563000	0.77884	GAG		0.473	ARHGAP26-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000132744.3	NM_015071		22	73	1	0	2.89e-11	3.06e-11	22	73				
SLC36A2	153201	broad.mit.edu	37	5	150723127	150723127	+	Silent	SNP	G	G	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr5:150723127G>A	ENST00000335244.4	-	3	417	c.288C>T	c.(286-288)ttC>ttT	p.F96F	SLC36A2_ENST00000521967.1_Silent_p.F96F	NM_181776.2	NP_861441.2	Q495M3	S36A2_HUMAN	solute carrier family 36 (proton/amino acid symporter), member 2	96					amino acid transport (GO:0006865)|ion transport (GO:0006811)|proline transmembrane transport (GO:0035524)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glycine transmembrane transporter activity (GO:0015187)|hydrogen:amino acid symporter activity (GO:0005280)|L-alanine transmembrane transporter activity (GO:0015180)|L-proline transmembrane transporter activity (GO:0015193)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(14)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Cycloserine(DB00260)	GGCAGGCAATGAAGCCCATCA	0.527																																						uc003lty.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(286-288)TTC>TTT		solute carrier family 36, member 2							102.0	100.0	100.0					5																	150723127		2203	4300	6503	SO:0001819	synonymous_variant	153201				cellular nitrogen compound metabolic process	cytoplasm|integral to membrane|plasma membrane	glycine transmembrane transporter activity	g.chr5:150723127G>A	AY162214	CCDS4315.1	5q33.1	2013-05-22			ENSG00000186335	ENSG00000186335		"""Solute carriers"""	18762	protein-coding gene	gene with protein product		608331				11959859	Standard	NM_181776		Approved	PAT2, tramdorin, TRAMD1	uc003lty.3	Q495M3	OTTHUMG00000130129	ENST00000335244.4:c.288C>T	5.37:g.150723127G>A						GM2A_uc011dcs.1_Intron|SLC36A2_uc003ltz.2_RNA|SLC36A2_uc003lua.2_5'UTR|SLC36A2_uc010jhv.2_Silent_p.F96F|SLC36A2_uc011dct.1_Silent_p.F96F	p.F96F	NM_181776	NP_861441	Q495M3	S36A2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		3	418	-		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	96			Helical; (Potential).		Q495M4|Q495M6|Q6ZWK5|Q7Z6B5	Silent	SNP	ENST00000335244.4	37	c.288C>T	CCDS4315.1																																																																																				0.527	SLC36A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252437.1			31	109	0	0	0	0	31	109				
G3BP1	10146	broad.mit.edu	37	5	151169928	151169928	+	Nonsense_Mutation	SNP	C	C	G			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr5:151169928C>G	ENST00000394123.3	+	3	285	c.140C>G	c.(139-141)tCa>tGa	p.S47*	G3BP1_ENST00000543466.1_5'UTR|G3BP1_ENST00000356245.3_Nonsense_Mutation_p.S47*			Q13283	G3BP1_HUMAN	GTPase activating protein (SH3 domain) binding protein 1	47	NTF2. {ECO:0000255|PROSITE- ProRule:PRU00137}.				ATP catabolic process (GO:0006200)|DNA duplex unwinding (GO:0032508)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|Ras protein signal transduction (GO:0007265)|transport (GO:0006810)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent RNA helicase activity (GO:0004004)|DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|skin(3)|urinary_tract(2)	29		all_hematologic(541;0.0338)|Medulloblastoma(196;0.091)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)			GGATTGGATTCAAATGGAAAG	0.343																																						uc003lun.2		NA																	0				skin(3)|ovary(1)	4						c.(139-141)TCA>TGA		Ras-GTPase-activating protein SH3-domain-binding							68.0	68.0	68.0					5																	151169928		2203	4300	6503	SO:0001587	stop_gained	10146				Ras protein signal transduction|transport	cytosol|nucleus|plasma membrane	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|endonuclease activity|protein binding|RNA binding	g.chr5:151169928C>G	BC006997	CCDS4319.1	5q33.1	2013-02-12	2006-11-01		ENSG00000145907	ENSG00000145907		"""RNA binding motif (RRM) containing"""	30292	protein-coding gene	gene with protein product	"""Ras-GTPase-activating protein SH3-domain-binding protein"""	608431				8649363, 9889278	Standard	NM_005754		Approved	HDH-VIII, G3BP	uc003lum.3	Q13283	OTTHUMG00000130123	ENST00000394123.3:c.140C>G	5.37:g.151169928C>G	ENSP00000377681:p.Ser47*					G3BP1_uc010jhy.1_Nonsense_Mutation_p.S47*|G3BP1_uc003lum.2_Nonsense_Mutation_p.S47*|G3BP1_uc011dcu.1_5'UTR|G3BP1_uc010jhz.2_5'UTR	p.S47*	NM_005754	NP_005745	Q13283	G3BP1_HUMAN	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		3	311	+		all_hematologic(541;0.0338)|Medulloblastoma(196;0.091)	47			NTF2.		Q5HYE9	Nonsense_Mutation	SNP	ENST00000394123.3	37	c.140C>G	CCDS4319.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.601018	0.87055	.	.	ENSG00000145907	ENST00000523519;ENST00000520578;ENST00000394123;ENST00000356245;ENST00000507878;ENST00000274596;ENST00000520006	.	.	.	4.55	4.55	0.56014	.	0.361815	0.30667	N	0.009127	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.19590	T	0.45	-4.549	17.6709	0.88217	0.0:1.0:0.0:0.0	.	.	.	.	X	47;47;47;47;57;47;47	.	ENSP00000274596:S47X	S	+	2	0	G3BP1	151150121	0.997000	0.39634	1.000000	0.80357	0.991000	0.79684	1.869000	0.39519	2.225000	0.72522	0.455000	0.32223	TCA		0.343	G3BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252431.1	NM_005754		6	30	0	0	0	0	6	30				
SLIT3	6586	broad.mit.edu	37	5	168127613	168127613	+	Silent	SNP	C	C	G			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr5:168127613C>G	ENST00000519560.1	-	27	3335	c.2916G>C	c.(2914-2916)ctG>ctC	p.L972L	SLIT3_ENST00000332966.8_Silent_p.L979L|SLIT3_ENST00000404867.3_Silent_p.L972L	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	972	EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00076}.				apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|cellular response to hormone stimulus (GO:0032870)|negative chemotaxis (GO:0050919)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of gene expression (GO:0010629)|organ morphogenesis (GO:0009887)|response to cortisol (GO:0051414)|Roundabout signaling pathway (GO:0035385)	extracellular space (GO:0005615)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GGCTGTCACTCAGGTGGCAGG	0.537																																					Ovarian(29;311 847 10864 17279 24903)	uc003mab.2		NA																	0				ovary(3)|skin(1)	4						c.(2914-2916)CTG>CTC		slit homolog 3 precursor							101.0	84.0	90.0					5																	168127613		2203	4300	6503	SO:0001819	synonymous_variant	6586				apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding	g.chr5:168127613C>G	AB011538	CCDS4369.1, CCDS64311.1	5q35	2008-07-18	2001-11-28		ENSG00000184347	ENSG00000184347			11087	protein-coding gene	gene with protein product		603745	"""slit (Drosophila) homolog 3"""	SLIL2		9693030, 9813312	Standard	NM_001271946		Approved	slit2, MEGF5, SLIT1, Slit-3	uc010jjg.4	O75094	OTTHUMG00000130409	ENST00000519560.1:c.2916G>C	5.37:g.168127613C>G						SLIT3_uc010jjg.2_Silent_p.L979L	p.L972L	NM_003062	NP_003053	O75094	SLIT3_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		27	3336	-	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	972			EGF-like 2.		A6H8U9|J3KNP3|O95804|Q9UFH5	Silent	SNP	ENST00000519560.1	37	c.2916G>C	CCDS4369.1																																																																																				0.537	SLIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252792.4	NM_003062		27	71	0	0	0	0	27	71				
GPRIN1	114787	broad.mit.edu	37	5	176026363	176026363	+	Nonsense_Mutation	SNP	G	G	C			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr5:176026363G>C	ENST00000303991.4	-	2	650	c.473C>G	c.(472-474)tCa>tGa	p.S158*		NM_052899.2	NP_443131.2	Q7Z2K8	GRIN1_HUMAN	G protein regulated inducer of neurite outgrowth 1	158					neuron projection development (GO:0031175)	cell projection (GO:0042995)|plasma membrane (GO:0005886)				NS(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(89;0.00263)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGCCTGCTTTGAGGACTTGAA	0.502																																						uc003meo.1		NA																	0				ovary(2)	2						c.(472-474)TCA>TGA		G protein-regulated inducer of neurite outgrowth							88.0	91.0	90.0					5																	176026363		2203	4300	6503	SO:0001587	stop_gained	114787					growth cone|plasma membrane		g.chr5:176026363G>C	AB067480	CCDS4405.1	5q35.2	2008-02-05			ENSG00000169258	ENSG00000169258			24835	protein-coding gene	gene with protein product		611239				11572484	Standard	NM_052899		Approved	GRIN1, KIAA1893	uc003meo.1	Q7Z2K8	OTTHUMG00000130659	ENST00000303991.4:c.473C>G	5.37:g.176026363G>C	ENSP00000305839:p.Ser158*						p.S158*	NM_052899	NP_443131	Q7Z2K8	GRIN1_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		2	648	-	all_cancers(89;0.00263)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	158					C9JM70|Q8ND74|Q96PZ4	Nonsense_Mutation	SNP	ENST00000303991.4	37	c.473C>G	CCDS4405.1	.	.	.	.	.	.	.	.	.	.	G	17.16	3.318914	0.60524	.	.	ENSG00000169258	ENST00000303991;ENST00000335532	.	.	.	5.32	3.52	0.40303	.	0.273550	0.19663	N	0.108921	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.23302	T	0.38	-2.6579	9.2148	0.37339	0.1805:0.0:0.8195:0.0	.	.	.	.	X	158	.	ENSP00000305839:S158X	S	-	2	0	GPRIN1	175958969	0.000000	0.05858	0.003000	0.11579	0.082000	0.17680	0.079000	0.14782	0.609000	0.30018	0.563000	0.77884	TCA		0.502	GPRIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253149.1	NM_052899		42	108	0	0	0	0	42	108				
ZFP2	80108	broad.mit.edu	37	5	178358745	178358745	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr5:178358745C>T	ENST00000361362.2	+	5	961	c.431C>T	c.(430-432)tCc>tTc	p.S144F	ZFP2_ENST00000503510.2_Missense_Mutation_p.S144F|ZFP2_ENST00000520301.1_Missense_Mutation_p.S144F|ZFP2_ENST00000523286.1_Missense_Mutation_p.S144F	NM_030613.2	NP_085116.2	Q6ZN57	ZFP2_HUMAN	ZFP2 zinc finger protein	144					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	20	all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.00655)|GBM - Glioblastoma multiforme(465;0.0302)|OV - Ovarian serous cystadenocarcinoma(192;0.0615)|Epithelial(171;0.111)		GAACGATCCTCCCTTACTGTA	0.403																																						uc003mjn.1		NA																	0				ovary(1)|pancreas(1)|skin(1)	3						c.(430-432)TCC>TTC		zinc finger protein 2 homolog							57.0	60.0	59.0					5																	178358745		2203	4300	6503	SO:0001583	missense	80108				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr5:178358745C>T	AK025281	CCDS4440.1	5q35.3	2013-01-08	2012-11-27		ENSG00000198939	ENSG00000198939		"""Zinc fingers, C2H2-type"""	26138	protein-coding gene	gene with protein product			"""zinc finger protein 2 homolog (mouse)"""				Standard	NM_030613		Approved	FLJ21628, ZNF751	uc003mjn.1	Q6ZN57	OTTHUMG00000130885	ENST00000361362.2:c.431C>T	5.37:g.178358745C>T	ENSP00000354453:p.Ser144Phe					ZFP2_uc010jky.2_Missense_Mutation_p.S144F|ZFP2_uc010jkx.1_Missense_Mutation_p.S144F	p.S144F	NM_030613	NP_085116	Q6ZN57	ZFP2_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.00655)|GBM - Glioblastoma multiforme(465;0.0302)|OV - Ovarian serous cystadenocarcinoma(192;0.0615)|Epithelial(171;0.111)	5	940	+	all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	144			C2H2-type 2.		A5PLN5|B7ZM23|Q9H6Z6	Missense_Mutation	SNP	ENST00000361362.2	37	c.431C>T	CCDS4440.1	.	.	.	.	.	.	.	.	.	.	c	11.60	1.687244	0.29962	.	.	ENSG00000198939	ENST00000361362;ENST00000520301;ENST00000523286;ENST00000503510	T;T;T;T	0.16073	2.37;2.37;2.37;2.37	4.71	1.8	0.24995	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.31772	N	0.007091	T	0.28466	0.0704	M	0.73962	2.25	0.09310	N	1	D	0.61697	0.99	D	0.64595	0.927	T	0.10683	-1.0619	10	0.29301	T	0.29	-7.8966	1.483	0.02441	0.1712:0.4711:0.1658:0.1919	.	144	Q6ZN57	ZFP2_HUMAN	F	144	ENSP00000354453:S144F;ENSP00000430980:S144F;ENSP00000430531:S144F;ENSP00000438114:S144F	ENSP00000354453:S144F	S	+	2	0	ZFP2	178291351	0.000000	0.05858	0.996000	0.52242	0.609000	0.37215	-1.117000	0.03283	1.179000	0.42884	0.591000	0.81541	TCC		0.403	ZFP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253470.2	NM_030613		19	58	0	0	0	0	19	58				
ZFP2	80108	broad.mit.edu	37	5	178359095	178359095	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr5:178359095C>T	ENST00000361362.2	+	5	1311	c.781C>T	c.(781-783)Cag>Tag	p.Q261*	ZFP2_ENST00000503510.2_Nonsense_Mutation_p.Q261*|ZFP2_ENST00000520301.1_Nonsense_Mutation_p.Q261*|ZFP2_ENST00000523286.1_Nonsense_Mutation_p.Q261*	NM_030613.2	NP_085116.2	Q6ZN57	ZFP2_HUMAN	ZFP2 zinc finger protein	261					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	20	all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.00655)|GBM - Glioblastoma multiforme(465;0.0302)|OV - Ovarian serous cystadenocarcinoma(192;0.0615)|Epithelial(171;0.111)		TATTGTACATCAGAGAAGCCA	0.398																																						uc003mjn.1		NA																	0				ovary(1)|pancreas(1)|skin(1)	3						c.(781-783)CAG>TAG		zinc finger protein 2 homolog							67.0	69.0	69.0					5																	178359095		2203	4300	6503	SO:0001587	stop_gained	80108				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr5:178359095C>T	AK025281	CCDS4440.1	5q35.3	2013-01-08	2012-11-27		ENSG00000198939	ENSG00000198939		"""Zinc fingers, C2H2-type"""	26138	protein-coding gene	gene with protein product			"""zinc finger protein 2 homolog (mouse)"""				Standard	NM_030613		Approved	FLJ21628, ZNF751	uc003mjn.1	Q6ZN57	OTTHUMG00000130885	ENST00000361362.2:c.781C>T	5.37:g.178359095C>T	ENSP00000354453:p.Gln261*					ZFP2_uc010jky.2_Nonsense_Mutation_p.Q261*|ZFP2_uc010jkx.1_Nonsense_Mutation_p.Q261*	p.Q261*	NM_030613	NP_085116	Q6ZN57	ZFP2_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.00655)|GBM - Glioblastoma multiforme(465;0.0302)|OV - Ovarian serous cystadenocarcinoma(192;0.0615)|Epithelial(171;0.111)	5	1290	+	all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	261			C2H2-type 6.		A5PLN5|B7ZM23|Q9H6Z6	Nonsense_Mutation	SNP	ENST00000361362.2	37	c.781C>T	CCDS4440.1	.	.	.	.	.	.	.	.	.	.	c	36	5.779155	0.96929	.	.	ENSG00000198939	ENST00000361362;ENST00000520301;ENST00000523286;ENST00000503510	.	.	.	4.78	3.9	0.45041	.	0.000000	0.30901	N	0.008650	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-6.2691	12.1552	0.54072	0.1722:0.8278:0.0:0.0	.	.	.	.	X	261	.	ENSP00000354453:Q261X	Q	+	1	0	ZFP2	178291701	0.130000	0.22417	0.994000	0.49952	0.912000	0.54170	0.371000	0.20450	1.210000	0.43336	0.650000	0.86243	CAG		0.398	ZFP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253470.2	NM_030613		23	76	0	0	0	0	23	76				
HLA-A	3105	broad.mit.edu	37	6	29910683	29910683	+	Missense_Mutation	SNP	T	T	C	rs199474407		TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr6:29910683T>C	ENST00000396634.1	+	4	564	c.223T>C	c.(223-225)Tgg>Cgg	p.W75R	HLA-A_ENST00000376802.2_Missense_Mutation_p.W75R|HLA-A_ENST00000376809.5_Missense_Mutation_p.W75R|HLA-A_ENST00000376806.5_Missense_Mutation_p.W75R			P16189	1A31_HUMAN	major histocompatibility complex, class I, A	75	Alpha-1.				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cell surface (GO:0009986)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	beta-2-microglobulin binding (GO:0030881)|peptide antigen binding (GO:0042605)|TAP binding (GO:0046977)			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						GCGGGCGCCGTGGATAGAGCA	0.677									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)																												uc003nol.2		NA																	0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(223-225)TGG>CGG		major histocompatibility complex, class I, A							45.0	48.0	47.0					6																	29910683		2203	4297	6500	SO:0001583	missense	3105	Melanoma_Familial_Clustering_of|Lichen_Sclerosis_et_Atrophicus_Familial_Clustering_of|Osteosarcoma_Familial_Clustering_of|Naso-/Oropharyngeal/Laryngeal_Cancer_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;incl.: Familial Head and Neck Cancer; ;Lichen Sclerosis, Familial	antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to plasma membrane|MHC class I protein complex	MHC class I receptor activity	g.chr6:29910683T>C	D32129	CCDS34373.1	6p21.3	2013-01-11			ENSG00000206503	ENSG00000206503		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4931	protein-coding gene	gene with protein product		142800				8838351	Standard	NM_001242758		Approved		uc003nol.3	P01891	OTTHUMG00000130501	ENST00000396634.1:c.223T>C	6.37:g.29910683T>C	ENSP00000379873:p.Trp75Arg	Multiple Myeloma(9;0.094)				HLA-G_uc011dmb.1_Intron|HCG4P6_uc003nog.1_Intron|HLA-A_uc010jrq.2_5'UTR|HLA-A_uc003nok.2_5'UTR|HLA-A_uc003non.2_Missense_Mutation_p.W75R|HLA-A_uc003noo.2_Missense_Mutation_p.W75R|HLA-A_uc010jrr.2_Missense_Mutation_p.W75R|HLA-A_uc003nom.2_5'UTR|HLA-A_uc010klp.2_Missense_Mutation_p.W47R|HLA-A_uc011dmc.1_5'UTR|HLA-A_uc011dmd.1_5'Flank	p.W75R	NM_002116	NP_002107	P30443	1A01_HUMAN			2	223	+			75			Extracellular (Potential).|Alpha-1.		O62924|O98009|O98137|Q8MHM1|Q9TPQ3|Q9TQ24|Q9UQU6|Q9UQU7	Missense_Mutation	SNP	ENST00000396634.1	37	c.223T>C	CCDS34373.1	.	.	.	.	.	.	.	.	.	.	.	15.52	2.857595	0.51376	.	.	ENSG00000206503	ENST00000396634;ENST00000376806;ENST00000376809;ENST00000355767;ENST00000376802	T;T;T;T	0.02446	4.29;4.29;4.29;4.29	3.72	3.72	0.42706	MHC class I, alpha chain, alpha1/alpha2 (3);MHC classes I/II-like antigen recognition protein (3);MHC class I-like antigen recognition (3);	0.000000	0.29972	U	0.010735	T	0.24431	0.0592	H	0.99998	5.555	0.09310	N	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0	T	0.57705	-0.7765	10	0.87932	D	0	.	9.0947	0.36632	0.0:0.0:0.0:1.0	.	75;75;75;75;75	P13746;Q5SRN7;P16188;Q5SRN5;P04439	1A11_HUMAN;.;1A30_HUMAN;.;1A03_HUMAN	R	75	ENSP00000379873:W75R;ENSP00000366002:W75R;ENSP00000366005:W75R;ENSP00000365998:W75R	ENSP00000348012:W75R	W	+	1	0	HLA-A	30018662	0.856000	0.29760	0.031000	0.17742	0.433000	0.31745	2.120000	0.41968	1.715000	0.51383	0.391000	0.25812	TGG		0.677	HLA-A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252909.1	NM_002116		11	16	0	0	0	0	11	16				
EGFL8	80864	broad.mit.edu	37	6	32135415	32135415	+	Missense_Mutation	SNP	G	G	C	rs17853434		TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr6:32135415G>C	ENST00000395512.1	+	8	922	c.817G>C	c.(817-819)Gag>Cag	p.E273Q	EGFL8_ENST00000333845.6_Missense_Mutation_p.E273Q|EGFL8_ENST00000489721.1_Intron|PPT2-EGFL8_ENST00000422437.1_3'UTR|AGPAT1_ENST00000490711.1_5'Flank			Q99944	EGFL8_HUMAN	EGF-like-domain, multiple 8	273				E -> Q (in Ref. 6; AAH35574). {ECO:0000305}.		extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|urinary_tract(1)	10						GCTGCTGCTGGAGGAGAGGCT	0.612																																						uc003oab.1		NA																	0					0						c.(817-819)GAG>CAG		NG3 protein precursor							61.0	60.0	61.0					6																	32135415		1511	2708	4219	SO:0001583	missense	80864					extracellular region|integral to membrane	calcium ion binding	g.chr6:32135415G>C	U89336	CCDS4743.1	6p21	2010-06-25	2003-05-21	2003-05-23	ENSG00000241404	ENSG00000241404			13944	protein-coding gene	gene with protein product		609897	"""chromosome 6 open reading frame 8"""	C6orf8			Standard	NM_030652		Approved	NG3		Q99944	OTTHUMG00000031222	ENST00000395512.1:c.817G>C	6.37:g.32135415G>C	ENSP00000378888:p.Glu273Gln					PPT2_uc003nzy.1_RNA|EGFL8_uc003oac.1_Missense_Mutation_p.E273Q	p.E273Q	NM_030652	NP_085155	Q99944	EGFL8_HUMAN			8	875	+			273	E -> Q (in Ref. 6; AAH35574).				B0S884|G5E9Q0|Q5JP23|Q5SSX3|Q8IV30	Missense_Mutation	SNP	ENST00000395512.1	37	c.817G>C	CCDS4743.1	.	.	.	.	.	.	.	.	.	.	G	27.5	4.839117	0.91117	.	.	ENSG00000241404	ENST00000333845;ENST00000395512;ENST00000432129	D;D;T	0.94417	-3.42;-3.42;0.81	5.84	5.84	0.93424	.	.	.	.	.	D	0.97043	0.9034	M	0.82323	2.585	0.53688	D	0.999971	D	0.76494	0.999	D	0.80764	0.994	D	0.97326	0.9947	9	0.87932	D	0	-16.3495	15.6279	0.76878	0.0:0.0:1.0:0.0	rs17853434	273	Q99944	EGFL8_HUMAN	Q	273;273;253	ENSP00000333380:E273Q;ENSP00000378888:E273Q;ENSP00000401694:E253Q	ENSP00000333380:E273Q	E	+	1	0	EGFL8	32243393	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.048000	0.76606	2.768000	0.95171	0.561000	0.74099	GAG		0.612	EGFL8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076463.3	NM_030652		23	28	0	0	0	0	23	28				
BRD2	6046	broad.mit.edu	37	6	32942323	32942323	+	Silent	SNP	C	C	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr6:32942323C>T	ENST00000374825.4	+	3	1815	c.114C>T	c.(112-114)ctC>ctT	p.L38L	BRD2_ENST00000449085.2_5'UTR|BRD2_ENST00000443797.2_5'UTR|BRD2_ENST00000395287.1_Silent_p.L38L|XXbac-BPG181M17.6_ENST00000580587.1_RNA|BRD2_ENST00000374831.4_Silent_p.L38L|BRD2_ENST00000395289.2_Silent_p.L38L	NM_005104.3	NP_005095.1	P25440	BRD2_HUMAN	bromodomain containing 2	38					chromatin modification (GO:0016568)|nucleosome assembly (GO:0006334)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|lysine-acetylated histone binding (GO:0070577)			central_nervous_system(3)|stomach(2)	5						AACCCTCTCTCTTGTATGAGG	0.582																																						uc003ocn.3		NA																	0				central_nervous_system(3)|stomach(2)	5						c.(112-114)CTC>CTT		bromodomain containing 2							85.0	85.0	85.0					6																	32942323		2203	4300	6503	SO:0001819	synonymous_variant	6046				spermatogenesis	nucleus	protein serine/threonine kinase activity	g.chr6:32942323C>T	X96670	CCDS4762.1, CCDS56420.1, CCDS56421.1	6p21.3	2010-12-23	2002-01-14		ENSG00000204256	ENSG00000204256			1103	protein-coding gene	gene with protein product		601540	"""bromodomain-containing 2"""			1352711, 8781126	Standard	NM_005104		Approved	KIAA9001, RING3, D6S113E, NAT, FSRG1	uc021ywf.1	P25440	OTTHUMG00000031241	ENST00000374825.4:c.114C>T	6.37:g.32942323C>T						BRD2_uc003oco.2_RNA|BRD2_uc003ocq.3_Silent_p.L38L|BRD2_uc003ocp.3_5'UTR|BRD2_uc010juh.2_Silent_p.L38L	p.L38L	NM_005104	NP_005095	P25440	BRD2_HUMAN			3	1815	+			38					A2AAU0|B0S7P0|B1AZT1|O00699|O00700|Q15310|Q5STC9|Q63HQ9|Q658Y7|Q6P3U2|Q969U4	Silent	SNP	ENST00000374825.4	37	c.114C>T	CCDS4762.1	.	.	.	.	.	.	.	.	.	.	C	8.295	0.818619	0.16607	.	.	ENSG00000204256	ENST00000456339;ENST00000449025	.	.	.	5.26	1.56	0.23342	.	.	.	.	.	T	0.25457	0.0619	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.17776	-1.0358	4	.	.	.	-9.8329	1.312	0.02100	0.2525:0.1555:0.4439:0.1481	.	.	.	.	F	40;44	.	.	S	+	2	0	BRD2	33050301	0.998000	0.40836	0.964000	0.40570	0.809000	0.45718	0.610000	0.24253	0.101000	0.17610	-0.991000	0.02546	TCT		0.582	BRD2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076503.2			10	80	0	0	0	0	10	80				
ANKS1A	23294	broad.mit.edu	37	6	35027938	35027938	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr6:35027938G>A	ENST00000360359.3	+	13	2230	c.2092G>A	c.(2092-2094)Gag>Aag	p.E698K	ANKS1A_ENST00000535627.1_Intron|ANKS1A_ENST00000470698.1_3'UTR	NM_015245.2	NP_056060.2	Q92625	ANS1A_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1A	698	SAM 1. {ECO:0000255|PROSITE- ProRule:PRU00184}.				ephrin receptor signaling pathway (GO:0048013)|neuron remodeling (GO:0016322)|substrate-dependent cell migration (GO:0006929)	cytoplasm (GO:0005737)|neuron projection (GO:0043005)|nucleus (GO:0005634)				cervix(2)|endometrium(3)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						ACGGACGCTGGAGCAGAGTGT	0.527																																						uc003ojx.3		NA																	0				ovary(3)|upper_aerodigestive_tract(1)	4						c.(2092-2094)GAG>AAG		ankyrin repeat and sterile alpha motif domain							94.0	76.0	82.0					6																	35027938		2203	4300	6503	SO:0001583	missense	23294					cytoplasm	protein binding	g.chr6:35027938G>A	D86982	CCDS4798.1	6p21.31	2013-01-10	2006-02-17	2006-02-17	ENSG00000064999	ENSG00000064999		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	20961	protein-coding gene	gene with protein product		608994	"""ankyrin repeat and SAM domain containing 1"", ""ankyrin repeat and sterile alpha motif domain containing 1"""	ANKS1		9039502	Standard	NM_015245		Approved	KIAA0229	uc003ojx.4	Q92625	OTTHUMG00000014559	ENST00000360359.3:c.2092G>A	6.37:g.35027938G>A	ENSP00000353518:p.Glu698Lys					ANKS1A_uc011dss.1_Intron|ANKS1A_uc011dst.1_Missense_Mutation_p.E238K|ANKS1A_uc010jvp.1_Missense_Mutation_p.E72K	p.E698K	NM_015245	NP_056060	Q92625	ANS1A_HUMAN			13	2234	+			698			SAM 1.		A2RUC1|B4DQW8|Q5JYI9|Q5SYR2|Q86WQ7	Missense_Mutation	SNP	ENST00000360359.3	37	c.2092G>A	CCDS4798.1	.	.	.	.	.	.	.	.	.	.	G	16.71	3.198897	0.58126	.	.	ENSG00000064999	ENST00000360359;ENST00000373990	D	0.82526	-1.62	5.68	5.68	0.88126	Sterile alpha motif domain (1);Sterile alpha motif/pointed domain (2);	0.000000	0.47093	D	0.000255	T	0.80363	0.4609	M	0.65498	2.005	0.80722	D	1	B;B;P	0.35600	0.03;0.221;0.511	B;B;B	0.40477	0.038;0.209;0.33	T	0.78602	-0.2140	10	0.30854	T	0.27	-27.3454	19.7788	0.96409	0.0:0.0:1.0:0.0	.	24;24;698	Q49AR9;E7EM84;Q92625	.;.;ANS1A_HUMAN	K	698;24	ENSP00000353518:E698K	ENSP00000353518:E698K	E	+	1	0	ANKS1A	35135916	1.000000	0.71417	1.000000	0.80357	0.872000	0.50106	8.016000	0.88706	2.683000	0.91414	0.313000	0.20887	GAG		0.527	ANKS1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040262.1	XM_166478		6	17	0	0	0	0	6	17				
DEF6	50619	broad.mit.edu	37	6	35280429	35280429	+	Silent	SNP	G	G	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr6:35280429G>A	ENST00000316637.5	+	5	692	c.687G>A	c.(685-687)ctG>ctA	p.L229L	DEF6_ENST00000542066.1_Intron	NM_022047.3	NP_071330.3	Q9H4E7	DEFI6_HUMAN	differentially expressed in FDCP 6 homolog (mouse)	229	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.					cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				cervix(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	15						GAGGGCACCTGAGAAGGAACT	0.612																																						uc003okk.2		NA																	0					0						c.(685-687)CTG>CTA		differentially expressed in FDCP 6 homolog							38.0	40.0	39.0					6																	35280429		2203	4300	6503	SO:0001819	synonymous_variant	50619					cytoplasm|nucleus|plasma membrane		g.chr6:35280429G>A	AJ276095	CCDS4802.1	6p21.33-p21.1	2013-01-10	2001-11-28		ENSG00000023892	ENSG00000023892		"""Pleckstrin homology (PH) domain containing"""	2760	protein-coding gene	gene with protein product	"""SWAP-70-like adaptor protein of T cells"""	610094	"""differentially expressed in FDCP (mouse homolog) 6"""			19251698	Standard	NM_022047		Approved	IBP, SLAT, SWAP70L	uc003okk.3	Q9H4E7	OTTHUMG00000014563	ENST00000316637.5:c.687G>A	6.37:g.35280429G>A						DEF6_uc010jvs.2_Silent_p.L229L|DEF6_uc010jvt.2_Intron	p.L229L	NM_022047	NP_071330	Q9H4E7	DEFI6_HUMAN			5	726	+			229			PH.		Q86VF4	Silent	SNP	ENST00000316637.5	37	c.687G>A	CCDS4802.1																																																																																				0.612	DEF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040276.1	NM_022047		3	29	0	0	0	0	3	29				
SRPK1	6732	broad.mit.edu	37	6	35888247	35888247	+	Silent	SNP	C	C	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr6:35888247C>T	ENST00000373825.2	-	2	357	c.72G>A	c.(70-72)agG>agA	p.R24R	SRPK1_ENST00000373822.1_5'UTR|SRPK1_ENST00000423325.2_5'UTR					SRSF protein kinase 1											endometrium(2)|large_intestine(10)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21						AGACTCACTTCCTTTGGGCTT	0.542																																					NSCLC(31;67 978 16289 24856 26454)	uc003olj.2		NA																	0				ovary(1)	1						c.(70-72)AGG>AGA		SFRS protein kinase 1							220.0	264.0	250.0					6																	35888247		2048	4184	6232	SO:0001819	synonymous_variant	6732				cell differentiation|chromosome segregation|interspecies interaction between organisms|intracellular protein kinase cascade|mRNA processing|negative regulation of viral genome replication|positive regulation of viral genome replication|regulation of mRNA processing|RNA splicing	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr6:35888247C>T	U09564	CCDS47415.1	6p21.31	2010-06-23	2010-06-23		ENSG00000096063	ENSG00000096063			11305	protein-coding gene	gene with protein product	"""SR protein kinase 1"", ""serine/arginine-rich splicing factor kinase 1"""	601939	"""SFRS protein kinase 1"""			8208298, 10198174	Standard	NM_003137		Approved	SFRSK1	uc003olj.3	Q96SB4	OTTHUMG00000014583	ENST00000373825.2:c.72G>A	6.37:g.35888247C>T						SRPK1_uc003olh.2_5'UTR|SRPK1_uc003oli.2_5'UTR	p.R24R	NM_003137	NP_003128	Q96SB4	SRPK1_HUMAN			2	195	-			24						Silent	SNP	ENST00000373825.2	37	c.72G>A	CCDS47415.1																																																																																				0.542	SRPK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040319.3	NM_003137		59	102	0	0	0	0	59	102				
STK38	11329	broad.mit.edu	37	6	36475338	36475338	+	Silent	SNP	C	C	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr6:36475338C>T	ENST00000229812.7	-	8	996	c.711G>A	c.(709-711)ctG>ctA	p.L237L	Z85986.1_ENST00000583113.1_RNA	NM_007271.2	NP_009202.1			serine/threonine kinase 38											NS(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GTGCTTTTTTCAGTCCTGTGC	0.408																																					Colon(180;997 3561 16158)	uc003omg.2		NA																	0				ovary(3)|upper_aerodigestive_tract(1)|lung(1)|skin(1)	6						c.(709-711)CTG>CTA		serine/threonine kinase 38							234.0	245.0	241.0					6																	36475338		2203	4300	6503	SO:0001819	synonymous_variant	11329				intracellular protein kinase cascade|negative regulation of MAP kinase activity	cytoplasm|MLL5-L complex	ATP binding|magnesium ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine kinase activity	g.chr6:36475338C>T		CCDS4822.1	6p21	2006-10-06			ENSG00000112079	ENSG00000112079			17847	protein-coding gene	gene with protein product		606964				7761441	Standard	NM_007271		Approved	NDR	uc003omh.3	Q15208	OTTHUMG00000014598	ENST00000229812.7:c.711G>A	6.37:g.36475338C>T						STK38_uc003omh.2_Silent_p.L237L|STK38_uc003omi.2_Silent_p.L237L	p.L237L	NM_007271	NP_009202	Q15208	STK38_HUMAN			7	1299	-			237			Protein kinase.			Silent	SNP	ENST00000229812.7	37	c.711G>A	CCDS4822.1																																																																																				0.408	STK38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040346.1	NM_007271		92	176	0	0	0	0	92	176				
DNAH8	1769	broad.mit.edu	37	6	38791364	38791364	+	Silent	SNP	G	G	C			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr6:38791364G>C	ENST00000359357.3	+	26	3350	c.3096G>C	c.(3094-3096)ctG>ctC	p.L1032L	DNAH8_ENST00000449981.2_Silent_p.L1249L|SNORA8_ENST00000391284.1_RNA|DNAH8_ENST00000441566.1_Silent_p.L1032L			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	1032					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						ACCCCTCTCTGACTGAAATCA	0.318																																						uc003ooe.1		NA																	0				skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	21						c.(3094-3096)CTG>CTC		dynein, axonemal, heavy polypeptide 8							91.0	92.0	91.0					6																	38791364		2202	4299	6501	SO:0001819	synonymous_variant	1769							g.chr6:38791364G>C	Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"""Axonemal dyneins"""	2952	protein-coding gene	gene with protein product		603337	"""dynein, axonemal, heavy polypeptide 8"""			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.3096G>C	6.37:g.38791364G>C							p.L1032L	NM_001371	NP_001362					26	3696	+								O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Silent	SNP	ENST00000359357.3	37	c.3096G>C																																																																																					0.318	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927		11	61	0	0	0	0	11	61				
FOXP4	116113	broad.mit.edu	37	6	41552527	41552527	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr6:41552527G>A	ENST00000307972.4	+	3	333	c.321G>A	c.(319-321)atG>atA	p.M107I	FOXP4_ENST00000409208.1_Missense_Mutation_p.M107I|FOXP4_ENST00000373057.3_Missense_Mutation_p.M107I|FOXP4_ENST00000373063.3_Missense_Mutation_p.M107I|FOXP4_ENST00000373060.1_Missense_Mutation_p.M107I			Q8IVH2	FOXP4_HUMAN	forkhead box P4	107	Gln-rich.				embryonic foregut morphogenesis (GO:0048617)|heart development (GO:0007507)|lung secretory cell differentiation (GO:0061140)|negative regulation of lung goblet cell differentiation (GO:1901250)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	16	Ovarian(28;0.0327)|Colorectal(47;0.196)					CGGTGGCCATGATGTCGCCGC	0.662																																						uc003oql.2		NA																	0				breast(1)	1						c.(319-321)ATG>ATA		forkhead box P4 isoform 1							55.0	48.0	50.0					6																	41552527		2202	4299	6501	SO:0001583	missense	116113				embryonic foregut morphogenesis|heart development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding	g.chr6:41552527G>A	AB080747	CCDS4856.1, CCDS34447.1, CCDS34448.1	6p21.1	2008-02-05			ENSG00000137166	ENSG00000137166		"""Forkhead boxes"""	20842	protein-coding gene	gene with protein product		608924					Standard	XM_006714991		Approved	FLJ40908	uc003oql.3	Q8IVH2	OTTHUMG00000014679	ENST00000307972.4:c.321G>A	6.37:g.41552527G>A	ENSP00000309823:p.Met107Ile					FOXP4_uc003oqm.2_Missense_Mutation_p.M107I|FOXP4_uc003oqn.2_Missense_Mutation_p.M107I	p.M107I	NM_001012426	NP_001012426	Q8IVH2	FOXP4_HUMAN			4	779	+	Ovarian(28;0.0327)|Colorectal(47;0.196)		107			Gln-rich.		Q5W098|Q7Z7F8|Q8IW55|Q96E19	Missense_Mutation	SNP	ENST00000307972.4	37	c.321G>A	CCDS34447.1	.	.	.	.	.	.	.	.	.	.	G	32	5.151624	0.94645	.	.	ENSG00000137166	ENST00000373060;ENST00000373063;ENST00000409208;ENST00000373057;ENST00000307972;ENST00000451305	T;D;T;D;T;T	0.93076	1.41;-3.16;1.41;-3.15;1.41;0.53	4.64	4.64	0.57946	.	0.046257	0.85682	D	0.000000	D	0.94955	0.8368	M	0.69185	2.1	0.58432	D	0.999997	P;P;P	0.45126	0.851;0.851;0.851	P;P;P	0.58391	0.838;0.838;0.838	D	0.95778	0.8814	10	0.87932	D	0	.	17.1349	0.86736	0.0:0.0:1.0:0.0	.	107;107;107	Q8IW55;Q7Z7F8;Q8IVH2	.;.;FOXP4_HUMAN	I	107;107;107;107;107;78	ENSP00000362151:M107I;ENSP00000362154:M107I;ENSP00000386958:M107I;ENSP00000362148:M107I;ENSP00000309823:M107I;ENSP00000393704:M78I	ENSP00000309823:M107I	M	+	3	0	FOXP4	41660505	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	9.781000	0.99029	2.131000	0.65755	0.555000	0.69702	ATG		0.662	FOXP4-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000106767.1	NM_138457		3	6	0	0	0	0	3	6				
TRERF1	55809	broad.mit.edu	37	6	42227372	42227372	+	Silent	SNP	C	C	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr6:42227372C>T	ENST00000372922.4	-	9	2536	c.1974G>A	c.(1972-1974)ccG>ccA	p.P658P	TRERF1_ENST00000354325.2_Silent_p.P575P|TRERF1_ENST00000372917.4_Silent_p.P575P|TRERF1_ENST00000541110.1_Silent_p.P678P|TRERF1_ENST00000340840.2_Silent_p.P575P	NM_033502.2	NP_277037.1	Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	658	Interacts with CREBBP.|Pro-rich.			P -> S (in Ref. 2; CAB88206/CAB88207). {ECO:0000305}.	cholesterol catabolic process (GO:0006707)|homeostatic process (GO:0042592)|multicellular organismal development (GO:0007275)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of hormone biosynthetic process (GO:0046885)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|steroid biosynthetic process (GO:0006694)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding, bending (GO:0008301)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|RNA polymerase II transcription cofactor activity (GO:0001104)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			AGAGAGGTTCCGGCCGGTGCC	0.652																																						uc003osd.2		NA																	0				ovary(3)|pancreas(1)|skin(1)	5						c.(1972-1974)CCG>CCA		transcriptional regulating factor 1							38.0	49.0	45.0					6																	42227372		2202	4300	6502	SO:0001819	synonymous_variant	55809				cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding	g.chr6:42227372C>T	AF297872	CCDS4867.1, CCDS75455.1	6p21.1-p12.1	2012-09-25			ENSG00000124496	ENSG00000124496			18273	protein-coding gene	gene with protein product		610322	"""breast cancer anti-estrogen resistance 2"""	BCAR2		11349124	Standard	XM_005249223		Approved	TReP-132, HSA277276, RAPA, dJ139D8.5	uc003osd.2	Q96PN7	OTTHUMG00000014698	ENST00000372922.4:c.1974G>A	6.37:g.42227372C>T						TRERF1_uc011duq.1_Silent_p.P575P|TRERF1_uc003osb.2_Silent_p.P414P|TRERF1_uc003osc.2_Silent_p.P414P|TRERF1_uc003ose.2_Silent_p.P678P	p.P658P	NM_033502	NP_277037	Q96PN7	TREF1_HUMAN	Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)		9	2537	-	Colorectal(47;0.196)		658	P -> S (in Ref. 2; CAB88206/CAB88207).		Pro-rich.|Interacts with CREBBP.		Q05GC6|Q7Z6T2|Q7Z6T3|Q9NQ72|Q9NQ73|Q9NUN9	Silent	SNP	ENST00000372922.4	37	c.1974G>A	CCDS4867.1																																																																																				0.652	TRERF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040551.2	NM_033502		21	66	0	0	0	0	21	66				
YIPF3	25844	broad.mit.edu	37	6	43480834	43480834	+	Silent	SNP	G	G	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr6:43480834G>A	ENST00000372422.2	-	6	821	c.639C>T	c.(637-639)atC>atT	p.I213I	LRRC73_ENST00000372441.1_5'Flank|YIPF3_ENST00000506469.1_Silent_p.I219I	NM_015388.3	NP_056203.2	Q9GZM5	YIPF3_HUMAN	Yip1 domain family, member 3	213					cell differentiation (GO:0030154)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)|transport vesicle (GO:0030133)				large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|skin(1)	9	all_cancers(18;3.79e-05)|Lung NSC(15;0.00217)|all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00736)|OV - Ovarian serous cystadenocarcinoma(102;0.0711)			GCAGCATGGTGATCTGGGCGT	0.562																																						uc003ovl.1		NA																	0					0						c.(637-639)ATC>ATT		natural killer cell-specific antigen KLIP1							117.0	118.0	118.0					6																	43480834		2203	4300	6503	SO:0001819	synonymous_variant	25844				cell differentiation	integral to membrane|plasma membrane|transport vesicle		g.chr6:43480834G>A	AK000946	CCDS4899.1	6p21.1	2009-10-06	2005-07-04	2005-07-04	ENSG00000137207	ENSG00000137207		"""Yip1 domain family"""	21023	protein-coding gene	gene with protein product		609775	"""chromosome 6 open reading frame 109"""	C6orf109			Standard	NM_015388		Approved	DKFZp566C243, KLIP1, dJ337H4.3, FinGER3	uc003ovl.2	Q9GZM5	OTTHUMG00000014738	ENST00000372422.2:c.639C>T	6.37:g.43480834G>A						C6orf154_uc003ovk.1_5'Flank|YIPF3_uc011dvk.1_Silent_p.I178I|YIPF3_uc010jyr.1_Silent_p.I219I|YIPF3_uc010jys.1_Silent_p.I56I|YIPF3_uc003ovm.1_Silent_p.I87I|YIPF3_uc010jyt.1_Silent_p.I162I	p.I213I	NM_015388	NP_056203	Q9GZM5	YIPF3_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00736)|OV - Ovarian serous cystadenocarcinoma(102;0.0711)		6	796	-	all_cancers(18;3.79e-05)|Lung NSC(15;0.00217)|all_lung(25;0.00536)		213					Q5JTD2|Q6FI85|Q8NI57|Q9NWE3|Q9Y3U9	Silent	SNP	ENST00000372422.2	37	c.639C>T	CCDS4899.1																																																																																				0.562	YIPF3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040639.2	NM_015388		52	154	0	0	0	0	52	154				
RUNX2	860	broad.mit.edu	37	6	45514677	45514677	+	Missense_Mutation	SNP	A	A	C			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr6:45514677A>C	ENST00000371438.1	+	8	1559	c.1201A>C	c.(1201-1203)Acc>Ccc	p.T401P	RUNX2_ENST00000465038.2_Missense_Mutation_p.T401P|RUNX2_ENST00000352853.5_Missense_Mutation_p.T469P|RUNX2_ENST00000359524.5_Missense_Mutation_p.T387P|RUNX2_ENST00000541979.1_Missense_Mutation_p.T447P|RUNX2_ENST00000371436.6_Missense_Mutation_p.T379P|RUNX2_ENST00000371432.3_Missense_Mutation_p.T365P|RUNX2_ENST00000576263.1_Intron	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN	runt-related transcription factor 2	401	Interaction with KAT6A. {ECO:0000250}.|Interaction with KAT6B.|Pro/Ser/Thr-rich.				BMP signaling pathway (GO:0030509)|cell maturation (GO:0048469)|cellular response to BMP stimulus (GO:0071773)|chondrocyte development (GO:0002063)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic forelimb morphogenesis (GO:0035115)|endochondral ossification (GO:0001958)|gene expression (GO:0010467)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis of dentin-containing tooth (GO:0042475)|ossification (GO:0001503)|osteoblast development (GO:0002076)|osteoblast differentiation (GO:0001649)|osteoblast fate commitment (GO:0002051)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus (GO:1901522)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|stem cell differentiation (GO:0048863)|T cell differentiation (GO:0030217)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						CTTTACTTACACCCCGCCAGT	0.587																																						uc011dvx.1		NA																	0				ovary(2)|skin(1)	3						c.(1201-1203)ACC>CCC		runt-related transcription factor 2 isoform a							134.0	110.0	118.0					6																	45514677		2203	4300	6503	SO:0001583	missense	860				negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr6:45514677A>C	AF001450	CCDS43467.1, CCDS43468.1, CCDS43467.2, CCDS43468.2	6p21	2010-08-20			ENSG00000124813	ENSG00000124813			10472	protein-coding gene	gene with protein product		600211		CCD, CBFA1, CCD1		7835892	Standard	NM_001024630		Approved	AML3, PEBP2A1, PEBP2aA1	uc011dvx.2	Q13950	OTTHUMG00000014774	ENST00000371438.1:c.1201A>C	6.37:g.45514677A>C	ENSP00000360493:p.Thr401Pro					RUNX2_uc011dvy.1_Missense_Mutation_p.T379P|RUNX2_uc003oxt.2_Missense_Mutation_p.T387P	p.T401P	NM_001024630	NP_001019801	Q13950	RUNX2_HUMAN			9	1411	+			401			Interaction with MYST3 (By similarity).|Pro/Ser/Thr-rich.|Interaction with MYST4.		O14614|O14615|O95181	Missense_Mutation	SNP	ENST00000371438.1	37	c.1201A>C	CCDS43467.2	.	.	.	.	.	.	.	.	.	.	A	17.59	3.428654	0.62844	.	.	ENSG00000124813	ENST00000465038;ENST00000352853;ENST00000541979;ENST00000371438;ENST00000371436;ENST00000359524;ENST00000371432	T;T;T;T;T;T;T	0.69306	-0.39;-0.39;-0.39;-0.39;-0.39;-0.39;-0.39	5.58	4.4	0.53042	.	0.043985	0.85682	D	0.000000	T	0.67543	0.2904	M	0.73962	2.25	0.50813	D	0.999898	P;P;D	0.53312	0.917;0.932;0.959	P;P;P	0.54100	0.625;0.501;0.742	T	0.72978	-0.4127	10	0.72032	D	0.01	-9.1121	12.2306	0.54486	0.8723:0.0:0.0:0.1277	.	447;401;387	F6RGB9;Q13950;Q13950-2	.;RUNX2_HUMAN;.	P	401;469;447;401;379;387;365	ENSP00000420707:T401P;ENSP00000319087:T469P;ENSP00000446290:T447P;ENSP00000360493:T401P;ENSP00000360491:T379P;ENSP00000352514:T387P;ENSP00000360486:T365P	ENSP00000319087:T469P	T	+	1	0	RUNX2	45622655	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.852000	0.62904	1.028000	0.39785	0.533000	0.62120	ACC		0.587	RUNX2-003	KNOWN	not_organism_supported|upstream_ATG|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040755.2	NM_004348		7	63	0	0	0	0	7	63				
GPR116	221395	broad.mit.edu	37	6	46851916	46851916	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr6:46851916C>G	ENST00000283296.7	-	5	709	c.421G>C	c.(421-423)Gag>Cag	p.E141Q	GPR116_ENST00000265417.7_Missense_Mutation_p.E141Q|GPR116_ENST00000456426.2_Missense_Mutation_p.E141Q|GPR116_ENST00000478711.1_5'Flank|GPR116_ENST00000362015.4_Missense_Mutation_p.E141Q	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	141					energy reserve metabolic process (GO:0006112)|fat cell differentiation (GO:0045444)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|neuropeptide signaling pathway (GO:0007218)|regulation of lipid metabolic process (GO:0019216)|surfactant homeostasis (GO:0043129)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			ACGTCACGCTCTTGACAAATG	0.502																																					NSCLC(59;410 1274 8751 36715 50546)	uc003oyo.3		NA																	0				central_nervous_system(1)|skin(1)	2						c.(421-423)GAG>CAG		G-protein coupled receptor 116 precursor							150.0	129.0	136.0					6																	46851916		2203	4300	6503	SO:0001583	missense	221395				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:46851916C>G	AB018301	CCDS4919.1	6p12.3	2014-08-08			ENSG00000069122	ENSG00000069122		"""-"", ""GPCR / Class B : Orphans"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	19030	protein-coding gene	gene with protein product						12435584	Standard	NM_001098518		Approved	DKFZp564O1923, KIAA0758	uc003oyo.3	Q8IZF2	OTTHUMG00000014793	ENST00000283296.7:c.421G>C	6.37:g.46851916C>G	ENSP00000283296:p.Glu141Gln					GPR116_uc003oyp.3_Missense_Mutation_p.E141Q|GPR116_uc003oyq.3_Missense_Mutation_p.E141Q|GPR116_uc003oyr.2_Missense_Mutation_p.E141Q	p.E141Q	NM_001098518	NP_001091988	Q8IZF2	GP116_HUMAN	Lung(136;0.192)		5	710	-			141			Extracellular (Potential).		O94858|Q5TF06|Q6RGN2|Q86SP0|Q9Y3Z2	Missense_Mutation	SNP	ENST00000283296.7	37	c.421G>C	CCDS4919.1	.	.	.	.	.	.	.	.	.	.	C	0.239	-1.014992	0.02078	.	.	ENSG00000069122	ENST00000452370;ENST00000283296;ENST00000362015;ENST00000456426;ENST00000265417	T;T;T;T	0.26957	1.71;2.1;1.7;1.71	5.17	2.17	0.27698	.	1.251430	0.05505	N	0.559109	T	0.07503	0.0189	L	0.57536	1.79	0.09310	N	1	P;B;P	0.34462	0.454;0.004;0.454	B;B;B	0.27500	0.08;0.01;0.08	T	0.34850	-0.9812	10	0.14252	T	0.57	-1.2061	5.1024	0.14766	0.0:0.6122:0.1742:0.2136	.	141;141;141	A8K0D8;Q8IZF2-3;Q8IZF2	.;.;GP116_HUMAN	Q	141	ENSP00000283296:E141Q;ENSP00000354563:E141Q;ENSP00000412866:E141Q;ENSP00000265417:E141Q	ENSP00000265417:E141Q	E	-	1	0	GPR116	46959875	0.013000	0.17824	0.029000	0.17559	0.058000	0.15608	1.258000	0.32944	0.587000	0.29643	0.655000	0.94253	GAG		0.502	GPR116-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040806.2	NM_015234		17	125	0	0	0	0	17	125				
GPR110	266977	broad.mit.edu	37	6	46977116	46977116	+	Silent	SNP	C	C	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr6:46977116C>T	ENST00000371253.2	-	11	2270	c.2055G>A	c.(2053-2055)cgG>cgA	p.R685R	GPR110_ENST00000449332.2_5'UTR|GPR110_ENST00000283297.5_Silent_p.R488R	NM_153840.2	NP_722582.2	Q5T601	GP110_HUMAN	G protein-coupled receptor 110	685					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	29						CGAGGATGATCCGGTAAGCCA	0.483																																						uc003oyt.2		NA																	0				ovary(2)|pancreas(1)	3						c.(2053-2055)CGG>CGA		G-protein coupled receptor 110 isoform 1							85.0	75.0	78.0					6																	46977116		2203	4300	6503	SO:0001819	synonymous_variant	266977				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:46977116C>T	AB083618	CCDS4920.1, CCDS34471.1	6p21.1	2014-08-08			ENSG00000153292	ENSG00000153292		"""-"", ""GPCR / Class B : Orphans"""	18990	protein-coding gene	gene with protein product						12435584, 14623098	Standard	XM_005249006		Approved	hGPCR36, PGR19	uc003oyt.3	Q5T601	OTTHUMG00000014795	ENST00000371253.2:c.2055G>A	6.37:g.46977116C>T						GPR110_uc011dwl.1_Silent_p.R373R	p.R685R	NM_153840	NP_722582	Q5T601	GP110_HUMAN			11	2254	-			685			Cytoplasmic (Potential).		Q5KU15|Q5T5Z9|Q5T600|Q86SM1|Q8IXE3|Q8IZF8|Q96DQ1|Q9H615	Silent	SNP	ENST00000371253.2	37	c.2055G>A	CCDS34471.1																																																																																				0.483	GPR110-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040810.2	NM_153840		15	47	0	0	0	0	15	47				
GPR110	266977	broad.mit.edu	37	6	46977149	46977149	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr6:46977149C>T	ENST00000371253.2	-	11	2237	c.2022G>A	c.(2020-2022)tgG>tgA	p.W674*	GPR110_ENST00000449332.2_5'UTR|GPR110_ENST00000283297.5_Nonsense_Mutation_p.W477*	NM_153840.2	NP_722582.2	Q5T601	GP110_HUMAN	G protein-coupled receptor 110	674					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	29						GCATGAGCATCCAGAAGAACA	0.498																																						uc003oyt.2		NA																	0				ovary(2)|pancreas(1)	3						c.(2020-2022)TGG>TGA		G-protein coupled receptor 110 isoform 1							86.0	76.0	80.0					6																	46977149		2203	4300	6503	SO:0001587	stop_gained	266977				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:46977149C>T	AB083618	CCDS4920.1, CCDS34471.1	6p21.1	2014-08-08			ENSG00000153292	ENSG00000153292		"""-"", ""GPCR / Class B : Orphans"""	18990	protein-coding gene	gene with protein product						12435584, 14623098	Standard	XM_005249006		Approved	hGPCR36, PGR19	uc003oyt.3	Q5T601	OTTHUMG00000014795	ENST00000371253.2:c.2022G>A	6.37:g.46977149C>T	ENSP00000360299:p.Trp674*					GPR110_uc011dwl.1_Nonsense_Mutation_p.W362*	p.W674*	NM_153840	NP_722582	Q5T601	GP110_HUMAN			11	2221	-			674			Helical; Name=3; (Potential).		Q5KU15|Q5T5Z9|Q5T600|Q86SM1|Q8IXE3|Q8IZF8|Q96DQ1|Q9H615	Nonsense_Mutation	SNP	ENST00000371253.2	37	c.2022G>A	CCDS34471.1	.	.	.	.	.	.	.	.	.	.	C	38	6.654048	0.97739	.	.	ENSG00000153292	ENST00000371253;ENST00000283297	.	.	.	5.9	5.9	0.94986	.	0.000000	0.56097	D	0.000029	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.1035	20.2789	0.98501	0.0:1.0:0.0:0.0	.	.	.	.	X	674;477	.	ENSP00000283297:W477X	W	-	3	0	GPR110	47085108	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.812000	0.86109	2.788000	0.95919	0.650000	0.86243	TGG		0.498	GPR110-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040810.2	NM_153840		11	48	0	0	0	0	11	48				
GPR110	266977	broad.mit.edu	37	6	46977208	46977208	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr6:46977208C>T	ENST00000371253.2	-	11	2178	c.1963G>A	c.(1963-1965)Gga>Aga	p.G655R	GPR110_ENST00000449332.2_5'UTR|GPR110_ENST00000283297.5_Missense_Mutation_p.G458R	NM_153840.2	NP_722582.2	Q5T601	GP110_HUMAN	G protein-coupled receptor 110	655					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	29						GTGCAGACTCCAGAAGGGTTC	0.498																																						uc003oyt.2		NA																	0				ovary(2)|pancreas(1)	3						c.(1963-1965)GGA>AGA		G-protein coupled receptor 110 isoform 1							107.0	86.0	93.0					6																	46977208		2203	4300	6503	SO:0001583	missense	266977				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:46977208C>T	AB083618	CCDS4920.1, CCDS34471.1	6p21.1	2014-08-08			ENSG00000153292	ENSG00000153292		"""-"", ""GPCR / Class B : Orphans"""	18990	protein-coding gene	gene with protein product						12435584, 14623098	Standard	XM_005249006		Approved	hGPCR36, PGR19	uc003oyt.3	Q5T601	OTTHUMG00000014795	ENST00000371253.2:c.1963G>A	6.37:g.46977208C>T	ENSP00000360299:p.Gly655Arg					GPR110_uc011dwl.1_Missense_Mutation_p.G343R	p.G655R	NM_153840	NP_722582	Q5T601	GP110_HUMAN			11	2162	-			655			Extracellular (Potential).		Q5KU15|Q5T5Z9|Q5T600|Q86SM1|Q8IXE3|Q8IZF8|Q96DQ1|Q9H615	Missense_Mutation	SNP	ENST00000371253.2	37	c.1963G>A	CCDS34471.1	.	.	.	.	.	.	.	.	.	.	C	10.43	1.349161	0.24426	.	.	ENSG00000153292	ENST00000371253;ENST00000283297	T;T	0.41758	0.99;0.99	5.69	3.92	0.45320	GPCR, family 2-like (1);	0.221905	0.32459	N	0.006078	T	0.19087	0.0458	M	0.72118	2.19	0.09310	N	1	B	0.28208	0.203	B	0.32583	0.148	T	0.25710	-1.0124	10	0.16420	T	0.52	-3.4646	6.2773	0.20987	0.0:0.6342:0.1444:0.2214	.	655	Q5T601	GP110_HUMAN	R	655;458	ENSP00000360299:G655R;ENSP00000283297:G458R	ENSP00000283297:G458R	G	-	1	0	GPR110	47085167	0.000000	0.05858	0.622000	0.29159	0.278000	0.26855	0.173000	0.16724	0.767000	0.33267	0.650000	0.86243	GGA		0.498	GPR110-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040810.2	NM_153840		7	33	0	0	0	0	7	33				
GPR110	266977	broad.mit.edu	37	6	46977266	46977266	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr6:46977266C>G	ENST00000371253.2	-	11	2120	c.1905G>C	c.(1903-1905)ttG>ttC	p.L635F	GPR110_ENST00000449332.2_5'UTR|GPR110_ENST00000283297.5_Missense_Mutation_p.L438F	NM_153840.2	NP_722582.2	Q5T601	GP110_HUMAN	G protein-coupled receptor 110	635					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	29						CATCAGCAATCAAGAGGGACA	0.468																																						uc003oyt.2		NA																	0				ovary(2)|pancreas(1)	3						c.(1903-1905)TTG>TTC		G-protein coupled receptor 110 isoform 1							132.0	97.0	109.0					6																	46977266		2203	4300	6503	SO:0001583	missense	266977				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:46977266C>G	AB083618	CCDS4920.1, CCDS34471.1	6p21.1	2014-08-08			ENSG00000153292	ENSG00000153292		"""-"", ""GPCR / Class B : Orphans"""	18990	protein-coding gene	gene with protein product						12435584, 14623098	Standard	XM_005249006		Approved	hGPCR36, PGR19	uc003oyt.3	Q5T601	OTTHUMG00000014795	ENST00000371253.2:c.1905G>C	6.37:g.46977266C>G	ENSP00000360299:p.Leu635Phe					GPR110_uc011dwl.1_Missense_Mutation_p.L323F	p.L635F	NM_153840	NP_722582	Q5T601	GP110_HUMAN			11	2104	-			635			Helical; Name=2; (Potential).		Q5KU15|Q5T5Z9|Q5T600|Q86SM1|Q8IXE3|Q8IZF8|Q96DQ1|Q9H615	Missense_Mutation	SNP	ENST00000371253.2	37	c.1905G>C	CCDS34471.1	.	.	.	.	.	.	.	.	.	.	C	16.01	3.002737	0.54254	.	.	ENSG00000153292	ENST00000371253;ENST00000283297	T;T	0.50001	0.76;0.76	5.9	3.0	0.34707	GPCR, family 2-like (1);	0.000000	0.46145	D	0.000310	T	0.43366	0.1244	M	0.66378	2.025	0.39886	D	0.973706	D	0.89917	1.0	D	0.91635	0.999	T	0.49331	-0.8951	10	0.27082	T	0.32	-13.9533	1.5189	0.02512	0.1271:0.4128:0.2148:0.2452	.	635	Q5T601	GP110_HUMAN	F	635;438	ENSP00000360299:L635F;ENSP00000283297:L438F	ENSP00000283297:L438F	L	-	3	2	GPR110	47085225	0.996000	0.38824	0.999000	0.59377	0.775000	0.43874	0.506000	0.22658	0.817000	0.34445	0.650000	0.86243	TTG		0.468	GPR110-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040810.2	NM_153840		8	40	0	0	0	0	8	40				
GPR110	266977	broad.mit.edu	37	6	46977332	46977332	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr6:46977332C>A	ENST00000371253.2	-	11	2054	c.1839G>T	c.(1837-1839)caG>caT	p.Q613H	GPR110_ENST00000449332.2_5'UTR|GPR110_ENST00000283297.5_Missense_Mutation_p.Q416H	NM_153840.2	NP_722582.2	Q5T601	GP110_HUMAN	G protein-coupled receptor 110	613					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	29						TTTTTTTAATCTGCTTCCAAA	0.443																																						uc003oyt.2		NA																	0				ovary(2)|pancreas(1)	3						c.(1837-1839)CAG>CAT		G-protein coupled receptor 110 isoform 1							100.0	81.0	87.0					6																	46977332		2203	4300	6503	SO:0001583	missense	266977				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:46977332C>A	AB083618	CCDS4920.1, CCDS34471.1	6p21.1	2014-08-08			ENSG00000153292	ENSG00000153292		"""-"", ""GPCR / Class B : Orphans"""	18990	protein-coding gene	gene with protein product						12435584, 14623098	Standard	XM_005249006		Approved	hGPCR36, PGR19	uc003oyt.3	Q5T601	OTTHUMG00000014795	ENST00000371253.2:c.1839G>T	6.37:g.46977332C>A	ENSP00000360299:p.Gln613His					GPR110_uc011dwl.1_Missense_Mutation_p.Q301H	p.Q613H	NM_153840	NP_722582	Q5T601	GP110_HUMAN			11	2038	-			613			Cytoplasmic (Potential).		Q5KU15|Q5T5Z9|Q5T600|Q86SM1|Q8IXE3|Q8IZF8|Q96DQ1|Q9H615	Missense_Mutation	SNP	ENST00000371253.2	37	c.1839G>T	CCDS34471.1	.	.	.	.	.	.	.	.	.	.	C	10.26	1.301344	0.23650	.	.	ENSG00000153292	ENST00000371252;ENST00000371253;ENST00000283297	T;T	0.44482	0.92;0.92	5.9	0.671	0.17929	GPCR, family 2-like (1);	0.336035	0.25944	N	0.027299	T	0.09158	0.0226	L	0.41415	1.275	0.22639	N	0.998908	B	0.12630	0.006	B	0.14578	0.011	T	0.35525	-0.9785	10	0.15952	T	0.53	-2.3913	2.966	0.05908	0.1088:0.3374:0.3478:0.206	.	613	Q5T601	GP110_HUMAN	H	613;613;416	ENSP00000360299:Q613H;ENSP00000283297:Q416H	ENSP00000283297:Q416H	Q	-	3	2	GPR110	47085291	0.000000	0.05858	0.064000	0.19789	0.379000	0.30106	-1.258000	0.02863	-0.165000	0.10908	-0.142000	0.14014	CAG		0.443	GPR110-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040810.2	NM_153840		10	50	1	0	3.86e-05	3.98e-05	10	50				
GPR110	266977	broad.mit.edu	37	6	46977338	46977338	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr6:46977338C>T	ENST00000371253.2	-	11	2048	c.1833G>A	c.(1831-1833)tgG>tgA	p.W611*	GPR110_ENST00000449332.2_5'UTR|GPR110_ENST00000283297.5_Nonsense_Mutation_p.W414*	NM_153840.2	NP_722582.2	Q5T601	GP110_HUMAN	G protein-coupled receptor 110	611					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	29						TAATCTGCTTCCAAAACAAAG	0.438																																						uc003oyt.2		NA																	0				ovary(2)|pancreas(1)	3						c.(1831-1833)TGG>TGA		G-protein coupled receptor 110 isoform 1							95.0	78.0	84.0					6																	46977338		2203	4300	6503	SO:0001587	stop_gained	266977				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:46977338C>T	AB083618	CCDS4920.1, CCDS34471.1	6p21.1	2014-08-08			ENSG00000153292	ENSG00000153292		"""-"", ""GPCR / Class B : Orphans"""	18990	protein-coding gene	gene with protein product						12435584, 14623098	Standard	XM_005249006		Approved	hGPCR36, PGR19	uc003oyt.3	Q5T601	OTTHUMG00000014795	ENST00000371253.2:c.1833G>A	6.37:g.46977338C>T	ENSP00000360299:p.Trp611*					GPR110_uc011dwl.1_Nonsense_Mutation_p.W299*	p.W611*	NM_153840	NP_722582	Q5T601	GP110_HUMAN			11	2032	-			611			Helical; Name=1; (Potential).		Q5KU15|Q5T5Z9|Q5T600|Q86SM1|Q8IXE3|Q8IZF8|Q96DQ1|Q9H615	Nonsense_Mutation	SNP	ENST00000371253.2	37	c.1833G>A	CCDS34471.1	.	.	.	.	.	.	.	.	.	.	C	35	5.493315	0.96339	.	.	ENSG00000153292	ENST00000371252;ENST00000371253;ENST00000283297	.	.	.	5.9	5.9	0.94986	.	0.000000	0.56097	D	0.000029	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.6622	20.2789	0.98501	0.0:1.0:0.0:0.0	.	.	.	.	X	611;611;414	.	ENSP00000283297:W414X	W	-	3	0	GPR110	47085297	1.000000	0.71417	1.000000	0.80357	0.603000	0.37013	7.812000	0.86109	2.788000	0.95919	0.650000	0.86243	TGG		0.438	GPR110-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040810.2	NM_153840		12	53	0	0	0	0	12	53				
GPR110	266977	broad.mit.edu	37	6	46977410	46977410	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr6:46977410C>A	ENST00000371253.2	-	11	1976	c.1761G>T	c.(1759-1761)tgG>tgT	p.W587C	GPR110_ENST00000449332.2_5'UTR|GPR110_ENST00000283297.5_Missense_Mutation_p.W390C	NM_153840.2	NP_722582.2	Q5T601	GP110_HUMAN	G protein-coupled receptor 110	587					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	29						CATAGGTGATCCATTTTACAA	0.433																																						uc003oyt.2		NA																	0				ovary(2)|pancreas(1)	3						c.(1759-1761)TGG>TGT		G-protein coupled receptor 110 isoform 1							114.0	106.0	109.0					6																	46977410		2203	4300	6503	SO:0001583	missense	266977				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:46977410C>A	AB083618	CCDS4920.1, CCDS34471.1	6p21.1	2014-08-08			ENSG00000153292	ENSG00000153292		"""-"", ""GPCR / Class B : Orphans"""	18990	protein-coding gene	gene with protein product						12435584, 14623098	Standard	XM_005249006		Approved	hGPCR36, PGR19	uc003oyt.3	Q5T601	OTTHUMG00000014795	ENST00000371253.2:c.1761G>T	6.37:g.46977410C>A	ENSP00000360299:p.Trp587Cys					GPR110_uc011dwl.1_Missense_Mutation_p.W275C	p.W587C	NM_153840	NP_722582	Q5T601	GP110_HUMAN			11	1960	-			587			Extracellular (Potential).		Q5KU15|Q5T5Z9|Q5T600|Q86SM1|Q8IXE3|Q8IZF8|Q96DQ1|Q9H615	Missense_Mutation	SNP	ENST00000371253.2	37	c.1761G>T	CCDS34471.1	.	.	.	.	.	.	.	.	.	.	C	2.475	-0.320892	0.05386	.	.	ENSG00000153292	ENST00000371252;ENST00000371253;ENST00000283297	T;T	0.42513	0.97;0.97	5.76	3.95	0.45737	GPCR, family 2-like (1);	0.110931	0.41823	N	0.000810	T	0.24084	0.0583	M	0.62723	1.935	0.58432	D	0.999997	B	0.13594	0.008	B	0.17433	0.018	T	0.07443	-1.0772	10	0.45353	T	0.12	-1.8068	11.0125	0.47671	0.1293:0.4559:0.4148:0.0	.	587	Q5T601	GP110_HUMAN	C	587;587;390	ENSP00000360299:W587C;ENSP00000283297:W390C	ENSP00000283297:W390C	W	-	3	0	GPR110	47085369	0.091000	0.21658	0.999000	0.59377	0.032000	0.12392	0.225000	0.17757	0.751000	0.32900	-0.273000	0.10243	TGG		0.433	GPR110-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040810.2	NM_153840		18	91	1	0	5.26e-13	5.61e-13	18	91				
GPR110	266977	broad.mit.edu	37	6	46977535	46977535	+	Missense_Mutation	SNP	C	C	T	rs112946460		TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr6:46977535C>T	ENST00000371253.2	-	11	1851	c.1636G>A	c.(1636-1638)Gat>Aat	p.D546N	GPR110_ENST00000449332.2_5'UTR|GPR110_ENST00000283297.5_Missense_Mutation_p.D349N	NM_153840.2	NP_722582.2	Q5T601	GP110_HUMAN	G protein-coupled receptor 110	546	GPS. {ECO:0000255|PROSITE- ProRule:PRU00098}.				G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	29						CAgcctgcatcgttccactgc	0.433													C|||	1	0.000199681	0.0008	0.0	5008	,	,		22163	0.0		0.0	False		,,,				2504	0.0					uc003oyt.2		NA																	0				ovary(2)|pancreas(1)	3						c.(1636-1638)GAT>AAT		G-protein coupled receptor 110 isoform 1							101.0	87.0	92.0					6																	46977535		2203	4300	6503	SO:0001583	missense	266977				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:46977535C>T	AB083618	CCDS4920.1, CCDS34471.1	6p21.1	2014-08-08			ENSG00000153292	ENSG00000153292		"""-"", ""GPCR / Class B : Orphans"""	18990	protein-coding gene	gene with protein product						12435584, 14623098	Standard	XM_005249006		Approved	hGPCR36, PGR19	uc003oyt.3	Q5T601	OTTHUMG00000014795	ENST00000371253.2:c.1636G>A	6.37:g.46977535C>T	ENSP00000360299:p.Asp546Asn					GPR110_uc011dwl.1_Missense_Mutation_p.D234N	p.D546N	NM_153840	NP_722582	Q5T601	GP110_HUMAN			11	1835	-			546			GPS.|Extracellular (Potential).		Q5KU15|Q5T5Z9|Q5T600|Q86SM1|Q8IXE3|Q8IZF8|Q96DQ1|Q9H615	Missense_Mutation	SNP	ENST00000371253.2	37	c.1636G>A	CCDS34471.1	.	.	.	.	.	.	.	.	.	.	C	0.018	-1.482338	0.01027	.	.	ENSG00000153292	ENST00000371252;ENST00000371253;ENST00000283297	T;T	0.68765	-0.35;-0.35	5.84	-5.44	0.02624	GPS domain (3);	1.364520	0.04420	N	0.367367	T	0.20047	0.0482	N	0.05510	-0.035	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.06826	-1.0805	10	0.17369	T	0.5	-0.093	11.6611	0.51347	0.0:0.4805:0.0905:0.429	.	546	Q5T601	GP110_HUMAN	N	546;546;349	ENSP00000360299:D546N;ENSP00000283297:D349N	ENSP00000283297:D349N	D	-	1	0	GPR110	47085494	0.000000	0.05858	0.000000	0.03702	0.344000	0.29017	-0.684000	0.05173	-0.812000	0.04363	-2.110000	0.00354	GAT		0.433	GPR110-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040810.2	NM_153840		13	43	0	0	0	0	13	43				
GPR110	266977	broad.mit.edu	37	6	46977656	46977656	+	Silent	SNP	C	C	G			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr6:46977656C>G	ENST00000371253.2	-	11	1730	c.1515G>C	c.(1513-1515)gtG>gtC	p.V505V	GPR110_ENST00000449332.2_5'UTR|GPR110_ENST00000283297.5_Silent_p.V308V	NM_153840.2	NP_722582.2	Q5T601	GP110_HUMAN	G protein-coupled receptor 110	505					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	29						CCGTGGATATCACAGGTCCAT	0.408																																						uc003oyt.2		NA																	0				ovary(2)|pancreas(1)	3						c.(1513-1515)GTG>GTC		G-protein coupled receptor 110 isoform 1							74.0	76.0	75.0					6																	46977656		2203	4300	6503	SO:0001819	synonymous_variant	266977				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:46977656C>G	AB083618	CCDS4920.1, CCDS34471.1	6p21.1	2014-08-08			ENSG00000153292	ENSG00000153292		"""-"", ""GPCR / Class B : Orphans"""	18990	protein-coding gene	gene with protein product						12435584, 14623098	Standard	XM_005249006		Approved	hGPCR36, PGR19	uc003oyt.3	Q5T601	OTTHUMG00000014795	ENST00000371253.2:c.1515G>C	6.37:g.46977656C>G						GPR110_uc011dwl.1_Silent_p.V193V	p.V505V	NM_153840	NP_722582	Q5T601	GP110_HUMAN			11	1714	-			505			Extracellular (Potential).		Q5KU15|Q5T5Z9|Q5T600|Q86SM1|Q8IXE3|Q8IZF8|Q96DQ1|Q9H615	Silent	SNP	ENST00000371253.2	37	c.1515G>C	CCDS34471.1																																																																																				0.408	GPR110-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040810.2	NM_153840		20	82	0	0	0	0	20	82				
GPR110	266977	broad.mit.edu	37	6	46977742	46977742	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr6:46977742C>T	ENST00000371253.2	-	11	1644	c.1429G>A	c.(1429-1431)Gaa>Aaa	p.E477K	GPR110_ENST00000449332.2_5'UTR|GPR110_ENST00000283297.5_Missense_Mutation_p.E280K	NM_153840.2	NP_722582.2	Q5T601	GP110_HUMAN	G protein-coupled receptor 110	477					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	29						ATAATAGTTTCTGGAAGGGAT	0.443																																						uc003oyt.2		NA																	0				ovary(2)|pancreas(1)	3						c.(1429-1431)GAA>AAA		G-protein coupled receptor 110 isoform 1							92.0	88.0	89.0					6																	46977742		2203	4300	6503	SO:0001583	missense	266977				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:46977742C>T	AB083618	CCDS4920.1, CCDS34471.1	6p21.1	2014-08-08			ENSG00000153292	ENSG00000153292		"""-"", ""GPCR / Class B : Orphans"""	18990	protein-coding gene	gene with protein product						12435584, 14623098	Standard	XM_005249006		Approved	hGPCR36, PGR19	uc003oyt.3	Q5T601	OTTHUMG00000014795	ENST00000371253.2:c.1429G>A	6.37:g.46977742C>T	ENSP00000360299:p.Glu477Lys					GPR110_uc011dwl.1_Missense_Mutation_p.E165K	p.E477K	NM_153840	NP_722582	Q5T601	GP110_HUMAN			11	1628	-			477			Extracellular (Potential).		Q5KU15|Q5T5Z9|Q5T600|Q86SM1|Q8IXE3|Q8IZF8|Q96DQ1|Q9H615	Missense_Mutation	SNP	ENST00000371253.2	37	c.1429G>A	CCDS34471.1	.	.	.	.	.	.	.	.	.	.	C	13.62	2.291567	0.40494	.	.	ENSG00000153292	ENST00000371252;ENST00000371253;ENST00000283297	T;T	0.33216	1.42;1.42	5.2	-2.55	0.06288	.	0.972993	0.08431	N	0.946862	T	0.07324	0.0185	L	0.41027	1.25	0.09310	N	1	B	0.10296	0.003	B	0.06405	0.002	T	0.40251	-0.9573	10	0.20046	T	0.44	-0.3731	7.1856	0.25797	0.0:0.2325:0.4153:0.3522	.	477	Q5T601	GP110_HUMAN	K	477;477;280	ENSP00000360299:E477K;ENSP00000283297:E280K	ENSP00000283297:E280K	E	-	1	0	GPR110	47085701	.	.	0.002000	0.10522	0.647000	0.38526	.	.	-0.363000	0.08101	0.555000	0.69702	GAA		0.443	GPR110-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040810.2	NM_153840		22	77	0	0	0	0	22	77				
CRISP3	10321	broad.mit.edu	37	6	49698947	49698947	+	Missense_Mutation	SNP	C	C	T	rs560259322		TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr6:49698947C>T	ENST00000393666.1	-	6	545	c.539G>A	c.(538-540)aGa>aAa	p.R180K	CRISP3_ENST00000263045.4_Missense_Mutation_p.R193K|CRISP3_ENST00000371159.4_Missense_Mutation_p.R211K|CRISP3_ENST00000423399.2_Missense_Mutation_p.R90K|CRISP3_ENST00000433368.2_Missense_Mutation_p.R203K			P54108	CRIS3_HUMAN	cysteine-rich secretory protein 3	180					defense response (GO:0006952)|innate immune response (GO:0045087)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|specific granule (GO:0042581)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|skin(6)|upper_aerodigestive_tract(1)	27	Lung NSC(77;0.0161)		KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)			GACATATAGTCTATTAGCCCA	0.333																																						uc003ozs.2		NA																	0				skin(2)	2						c.(538-540)AGA>AAA		cysteine-rich secretory protein 3 precursor							95.0	87.0	90.0					6																	49698947		2203	4300	6503	SO:0001583	missense	10321				innate immune response	proteinaceous extracellular matrix|specific granule		g.chr6:49698947C>T	X94323	CCDS4929.1, CCDS4929.2, CCDS55019.1	6p12.3	2008-02-05			ENSG00000096006	ENSG00000096006			16904	protein-coding gene	gene with protein product						8665901, 12223513	Standard	NM_006061		Approved	SGP28, CRISP-3, CRS3, dJ442L6.3, Aeg2	uc003ozs.3	P54108	OTTHUMG00000014823	ENST00000393666.1:c.539G>A	6.37:g.49698947C>T	ENSP00000377274:p.Arg180Lys						p.R180K	NM_006061	NP_006052	P54108	CRIS3_HUMAN	KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)		7	554	-	Lung NSC(77;0.0161)		180					A8K9S1|B2R8I8|Q15512|Q3MJ82|Q53FA9|Q5JW83|Q9H108	Missense_Mutation	SNP	ENST00000393666.1	37	c.539G>A		.	.	.	.	.	.	.	.	.	.	C	2.558	-0.302526	0.05495	.	.	ENSG00000096006	ENST00000263045;ENST00000433368;ENST00000393666;ENST00000423399;ENST00000371159	T;T;T;T;T	0.41400	2.98;2.98;2.98;1.0;2.98	4.86	-1.33	0.09172	CAP domain (2);	0.788316	0.10315	U	0.689509	T	0.05318	0.0141	N	0.12920	0.275	0.09310	N	1	B	0.13594	0.008	B	0.13407	0.009	T	0.39761	-0.9598	10	0.05620	T	0.96	.	4.911	0.13821	0.0:0.4684:0.1472:0.3843	.	180	P54108	CRIS3_HUMAN	K	193;203;180;90;211	ENSP00000263045:R193K;ENSP00000389026:R203K;ENSP00000377274:R180K;ENSP00000410469:R90K;ENSP00000360201:R211K	ENSP00000263045:R193K	R	-	2	0	CRISP3	49806906	0.000000	0.05858	0.000000	0.03702	0.022000	0.10575	-2.365000	0.01079	-0.167000	0.10871	0.491000	0.48974	AGA		0.333	CRISP3-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_006061		17	54	0	0	0	0	17	54				
SENP6	26054	broad.mit.edu	37	6	76407199	76407199	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr6:76407199G>C	ENST00000447266.2	+	18	2732	c.2254G>C	c.(2254-2256)Gag>Cag	p.E752Q	SENP6_ENST00000370010.2_Missense_Mutation_p.E745Q|SENP6_ENST00000541192.1_Missense_Mutation_p.E348Q|SENP6_ENST00000370014.3_Missense_Mutation_p.E752Q	NM_015571.2	NP_056386.2	Q9GZR1	SENP6_HUMAN	SUMO1/sentrin specific peptidase 6	752	Protease.				protein desumoylation (GO:0016926)|protein modification by small protein removal (GO:0070646)|protein sumoylation (GO:0016925)|regulation of kinetochore assembly (GO:0090234)|regulation of spindle assembly (GO:0090169)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	SUMO-specific protease activity (GO:0016929)			breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(105;0.189)				AGATATTTTTGAGAAGGATTT	0.303																																						uc003pid.3		NA																	0				breast(2)|urinary_tract(1)|ovary(1)|lung(1)|skin(1)	6						c.(2254-2256)GAG>CAG		SUMO1/sentrin specific peptidase 6 isoform 1							85.0	85.0	85.0					6																	76407199		1800	4060	5860	SO:0001583	missense	26054				proteolysis	cytoplasm|nucleus	cysteine-type peptidase activity	g.chr6:76407199G>C		CCDS43483.1, CCDS47454.1	6q13-q14.3	2008-02-05	2005-08-17		ENSG00000112701	ENSG00000112701			20944	protein-coding gene	gene with protein product		605003	"""SUMO1/sentrin specific protease 6"""				Standard	NM_015571		Approved	SUSP1, KIAA0797	uc003pid.4	Q9GZR1	OTTHUMG00000015060	ENST00000447266.2:c.2254G>C	6.37:g.76407199G>C	ENSP00000402527:p.Glu752Gln					SENP6_uc003pie.3_Missense_Mutation_p.E745Q|SENP6_uc010kbf.2_RNA	p.E752Q	NM_015571	NP_056386	Q9GZR1	SENP6_HUMAN			18	2873	+		all_hematologic(105;0.189)	752			Protease.		A6NNY9|O94891|Q5VUL3|Q5VUL4|Q8TBY4|Q9UJV5	Missense_Mutation	SNP	ENST00000447266.2	37	c.2254G>C	CCDS47454.1	.	.	.	.	.	.	.	.	.	.	G	15.24	2.775434	0.49786	.	.	ENSG00000112701	ENST00000370010;ENST00000370014;ENST00000447266;ENST00000541192	T;T;T;T	0.31769	1.48;1.48;1.48;1.48	5.67	5.67	0.87782	.	0.050931	0.85682	D	0.000000	T	0.15825	0.0381	L	0.31804	0.96	0.41351	D	0.987361	B;B	0.32968	0.34;0.392	B;B	0.37091	0.155;0.241	T	0.04115	-1.0976	10	0.34782	T	0.22	-14.4692	15.2806	0.73781	0.0:0.1396:0.8604:0.0	.	745;752	Q9GZR1-2;Q9GZR1	.;SENP6_HUMAN	Q	745;752;752;348	ENSP00000359027:E745Q;ENSP00000359031:E752Q;ENSP00000402527:E752Q;ENSP00000441715:E348Q	ENSP00000359027:E745Q	E	+	1	0	SENP6	76463919	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.962000	0.63687	2.680000	0.91292	0.655000	0.94253	GAG		0.303	SENP6-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041272.2	NM_015571		10	25	0	0	0	0	10	25				
TCF21	6943	broad.mit.edu	37	6	134212923	134212923	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr6:134212923G>A	ENST00000367882.4	+	2	783	c.523G>A	c.(523-525)Gga>Aga	p.G175R	TCF21_ENST00000237316.3_Missense_Mutation_p.G175R|RP3-323P13.2_ENST00000607033.1_RNA|RP3-323P13.2_ENST00000606544.1_RNA|RP3-323P13.2_ENST00000607573.1_RNA|RP3-323P13.2_ENST00000607641.1_RNA	NM_003206.3	NP_003197.2	O43680	TCF21_HUMAN	transcription factor 21	175					branching involved in ureteric bud morphogenesis (GO:0001658)|branchiomeric skeletal muscle development (GO:0014707)|bronchiole development (GO:0060435)|diaphragm development (GO:0060539)|embryonic digestive tract morphogenesis (GO:0048557)|epithelial cell differentiation (GO:0030855)|gland development (GO:0048732)|glomerulus development (GO:0032835)|kidney development (GO:0001822)|lung alveolus development (GO:0048286)|lung morphogenesis (GO:0060425)|lung vasculature development (GO:0060426)|metanephric glomerular capillary formation (GO:0072277)|metanephric mesenchymal cell differentiation (GO:0072162)|morphogenesis of a branching structure (GO:0001763)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|reproductive structure development (GO:0048608)|respiratory system development (GO:0060541)|Sertoli cell differentiation (GO:0060008)|sex determination (GO:0007530)|spleen development (GO:0048536)|ureteric bud development (GO:0001657)|vasculature development (GO:0001944)	nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|bHLH transcription factor binding (GO:0043425)|E-box binding (GO:0070888)|protein dimerization activity (GO:0046983)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	13	Colorectal(23;0.221)|Breast(56;0.247)			GBM - Glioblastoma multiforme(68;0.00518)|OV - Ovarian serous cystadenocarcinoma(155;0.00783)		CCGCTTATGTGGAACCACCGC	0.657																																						uc003qei.3		NA																	0					0						c.(523-525)GGA>AGA		transcription factor 21							47.0	50.0	49.0					6																	134212923		2203	4300	6503	SO:0001583	missense	6943				branching involved in ureteric bud morphogenesis|mesoderm development|negative regulation of androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent	nucleus	androgen receptor binding|E-box binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity	g.chr6:134212923G>A	AF047419	CCDS5167.1	6q23.2	2014-09-17			ENSG00000118526	ENSG00000118526		"""Basic helix-loop-helix proteins"""	11632	protein-coding gene	gene with protein product		603306				9507058	Standard	NM_198392		Approved	POD1, bHLHa23	uc003qei.4	O43680	OTTHUMG00000015608	ENST00000367882.4:c.523G>A	6.37:g.134212923G>A	ENSP00000356857:p.Gly175Arg					uc003qeg.1_5'Flank|TCF21_uc003qej.2_Missense_Mutation_p.G175R	p.G175R	NM_003206	NP_003197	O43680	TCF21_HUMAN		GBM - Glioblastoma multiforme(68;0.00518)|OV - Ovarian serous cystadenocarcinoma(155;0.00783)	2	799	+	Colorectal(23;0.221)|Breast(56;0.247)		175					E1P581|O43545|Q6ICV0|Q9BZ14	Missense_Mutation	SNP	ENST00000367882.4	37	c.523G>A	CCDS5167.1	.	.	.	.	.	.	.	.	.	.	G	34	5.381662	0.95967	.	.	ENSG00000118526	ENST00000367882;ENST00000237316	D;D	0.98105	-4.72;-4.72	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	D	0.98065	0.9362	L	0.46157	1.445	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99679	1.0998	10	0.87932	D	0	-7.8427	19.5284	0.95215	0.0:0.0:1.0:0.0	.	175	O43680	TCF21_HUMAN	R	175	ENSP00000356857:G175R;ENSP00000237316:G175R	ENSP00000237316:G175R	G	+	1	0	TCF21	134254616	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	9.626000	0.98410	2.625000	0.88918	0.650000	0.86243	GGA		0.657	TCF21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042292.1	NM_198392		11	34	0	0	0	0	11	34				
HECA	51696	broad.mit.edu	37	6	139487747	139487747	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr6:139487747G>A	ENST00000367658.2	+	2	883	c.598G>A	c.(598-600)Gag>Aag	p.E200K	RP1-225E12.2_ENST00000586229.1_RNA|RP1-225E12.3_ENST00000585874.1_RNA|RP1-225E12.2_ENST00000588638.1_RNA|RP1-225E12.2_ENST00000587577.1_RNA|RP1-225E12.2_ENST00000586266.1_RNA|RP1-225E12.2_ENST00000589192.1_RNA|RP1-225E12.2_ENST00000588529.1_RNA|RP1-225E12.2_ENST00000415194.2_RNA|RP1-225E12.2_ENST00000590679.1_RNA|RP1-225E12.2_ENST00000591102.1_RNA	NM_016217.2	NP_057301.1	Q9UBI9	HDC_HUMAN	headcase homolog (Drosophila)	200					respiratory tube development (GO:0030323)	membrane (GO:0016020)				endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)	15				GBM - Glioblastoma multiforme(68;0.000252)|OV - Ovarian serous cystadenocarcinoma(155;0.000387)		GATGCAGGACGAGAAAAAGAA	0.582																																						uc003qin.2		NA																	0					0						c.(598-600)GAG>AAG		headcase							55.0	61.0	59.0					6																	139487747		2203	4300	6503	SO:0001583	missense	51696				respiratory tube development			g.chr6:139487747G>A	AB033492	CCDS5194.1	6q23-q24	2010-11-25			ENSG00000112406	ENSG00000112406			21041	protein-coding gene	gene with protein product		607977				11696983, 19643820	Standard	NM_016217		Approved	HDCL, hHDC, HDC, dJ225E12.1	uc003qin.3	Q9UBI9	OTTHUMG00000015686	ENST00000367658.2:c.598G>A	6.37:g.139487747G>A	ENSP00000356630:p.Glu200Lys						p.E200K	NM_016217	NP_057301	Q9UBI9	HDC_HUMAN		GBM - Glioblastoma multiforme(68;0.000252)|OV - Ovarian serous cystadenocarcinoma(155;0.000387)	2	883	+			200						Missense_Mutation	SNP	ENST00000367658.2	37	c.598G>A	CCDS5194.1	.	.	.	.	.	.	.	.	.	.	G	19.66	3.869702	0.72065	.	.	ENSG00000112406	ENST00000367658	.	.	.	5.13	5.13	0.70059	.	0.148239	0.64402	D	0.000014	T	0.44329	0.1288	L	0.34521	1.04	0.80722	D	1	D	0.59767	0.986	P	0.47705	0.555	T	0.25847	-1.0120	9	0.30078	T	0.28	.	18.7842	0.91947	0.0:0.0:1.0:0.0	.	200	Q9UBI9	HDC_HUMAN	K	200	.	ENSP00000356630:E200K	E	+	1	0	HECA	139529440	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	9.142000	0.94618	2.676000	0.91093	0.655000	0.94253	GAG		0.582	HECA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042456.1	NM_016217		37	45	0	0	0	0	37	45				
MICALL2	79778	broad.mit.edu	37	7	1479682	1479682	+	Silent	SNP	C	C	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr7:1479682C>T	ENST00000297508.7	-	9	2020	c.1845G>A	c.(1843-1845)ccG>ccA	p.P615P	MICALL2_ENST00000405088.4_Silent_p.P403P|MICALL2_ENST00000471899.1_5'Flank	NM_182924.3	NP_891554.1	Q8IY33	MILK2_HUMAN	MICAL-like 2	615	Mediates targeting to the cell plasma membrane. {ECO:0000250}.				actin cytoskeleton reorganization (GO:0031532)|actin filament polymerization (GO:0030041)|endocytic recycling (GO:0032456)|neuron projection development (GO:0031175)|substrate adhesion-dependent cell spreading (GO:0034446)|tight junction assembly (GO:0070830)	cell-cell junction (GO:0005911)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)|stress fiber (GO:0001725)|tight junction (GO:0005923)	actin filament binding (GO:0051015)|filamin binding (GO:0031005)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(8)|ovary(2)|skin(2)	19		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;6.01e-15)		CCCCCGCCCTCGGCTCTGCCA	0.687																																						uc003skj.3		NA																	0				central_nervous_system(1)	1						c.(1843-1845)CCG>CCA		MICAL-like 2 isoform 1							31.0	37.0	35.0					7																	1479682		2199	4294	6493	SO:0001819	synonymous_variant	79778					cytoplasm|cytoskeleton	zinc ion binding	g.chr7:1479682C>T	BC037988	CCDS5324.1	7p22.3	2006-11-24			ENSG00000164877	ENSG00000164877			29672	protein-coding gene	gene with protein product	"""junctional Rab13-binding protein"""					12110185, 16525024	Standard	NM_182924		Approved	MGC46023, FLJ23471, MICAL-L2, JRAB	uc003skj.4	Q8IY33	OTTHUMG00000119021	ENST00000297508.7:c.1845G>A	7.37:g.1479682C>T						MICALL2_uc003skh.3_5'Flank|MICALL2_uc003ski.3_Silent_p.P102P	p.P615P	NM_182924	NP_891554	Q8IY33	MILK2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;6.01e-15)	9	1992	-		Ovarian(82;0.0253)	615					D3YTD2|Q7RTP4|Q7Z655|Q8TEQ4|Q9H5F9	Silent	SNP	ENST00000297508.7	37	c.1845G>A	CCDS5324.1																																																																																				0.687	MICALL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239223.2	NM_182924		28	61	0	0	0	0	28	61				
AP5Z1	9907	broad.mit.edu	37	7	4830913	4830913	+	Missense_Mutation	SNP	T	T	A	rs373188621		TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr7:4830913T>A	ENST00000348624.4	+	17	2415	c.2321T>A	c.(2320-2322)gTg>gAg	p.V774E	AP5Z1_ENST00000490487.1_3'UTR|MIR4656_ENST00000579503.1_RNA	NM_014855.2	NP_055670.1	O43299	AP5Z1_HUMAN	adaptor-related protein complex 5, zeta 1 subunit	774					cell death (GO:0008219)|double-strand break repair via homologous recombination (GO:0000724)|endosomal transport (GO:0016197)|protein transport (GO:0015031)	AP-5 adaptor complex (GO:0044599)|AP-type membrane coat adaptor complex (GO:0030119)|cytoplasm (GO:0005737)|nucleus (GO:0005634)											AGCACGGAGGTGTGCAGCCCC	0.697																																						uc003sne.2		NA																	0				central_nervous_system(1)	1						c.(2320-2322)GTG>GAG		hypothetical protein LOC9907							28.0	36.0	33.0					7																	4830913		2153	4241	6394	SO:0001583	missense	9907				cell death|double-strand break repair via homologous recombination	cytoplasm|nucleus	protein binding	g.chr7:4830913T>A	AB007875	CCDS47528.1	7p22.1	2012-03-20	2012-03-20	2012-03-20	ENSG00000242802	ENSG00000242802			22197	protein-coding gene	gene with protein product		613653	"""KIAA0415"""	KIAA0415		20613862, 22022230	Standard	NM_014855		Approved	SPG48, zeta	uc003sne.3	O43299	OTTHUMG00000151754	ENST00000348624.4:c.2321T>A	7.37:g.4830913T>A	ENSP00000297562:p.Val774Glu					KIAA0415_uc010ksp.2_RNA|KIAA0415_uc003snf.2_Missense_Mutation_p.V251E	p.V774E	NM_014855	NP_055670	O43299	K0415_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.091)|OV - Ovarian serous cystadenocarcinoma(56;8.35e-15)	17	2404	+		Ovarian(82;0.0175)	774					Q8N3X2|Q96H80	Missense_Mutation	SNP	ENST00000348624.4	37	c.2321T>A	CCDS47528.1	.	.	.	.	.	.	.	.	.	.	T	14.55	2.569608	0.45798	.	.	ENSG00000242802	ENST00000348624	T	0.48836	0.8	5.31	2.96	0.34315	.	.	.	.	.	T	0.61400	0.2344	M	0.83118	2.625	0.80722	D	1	D;D	0.63880	0.993;0.969	P;P	0.56916	0.809;0.754	T	0.61652	-0.7019	9	0.72032	D	0.01	.	7.7351	0.28810	0.0:0.1851:0.0:0.8149	.	1485;774	A4D1Z4;O43299	.;K0415_HUMAN	E	774	ENSP00000297562:V774E	ENSP00000297562:V774E	V	+	2	0	KIAA0415	4797439	0.999000	0.42202	0.021000	0.16686	0.033000	0.12548	1.470000	0.35354	0.333000	0.23563	0.533000	0.62120	GTG		0.697	AP5Z1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323771.1			8	21	0	0	0	0	8	21				
GLCCI1	113263	broad.mit.edu	37	7	8062158	8062158	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr7:8062158C>A	ENST00000223145.5	+	3	1212	c.655C>A	c.(655-657)Cag>Aag	p.Q219K	GLCCI1_ENST00000474269.1_3'UTR	NM_138426.3	NP_612435.1	Q86VQ1	GLCI1_HUMAN	glucocorticoid induced transcript 1	219						cytoplasm (GO:0005737)				endometrium(4)|large_intestine(4)|lung(13)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	25		Ovarian(82;0.0608)		UCEC - Uterine corpus endometrioid carcinoma (126;0.206)		GAGGTCACATCAGCGTTCTGC	0.368																																						uc003srk.2		NA																	0					0						c.(655-657)CAG>AAG		glucocorticoid induced transcript 1							185.0	168.0	174.0					7																	8062158		2203	4300	6503	SO:0001583	missense	113263							g.chr7:8062158C>A	BC050291	CCDS34601.1	7p22.2	2008-08-18			ENSG00000106415	ENSG00000106415			18713	protein-coding gene	gene with protein product		614283					Standard	NM_138426		Approved	GIG18, FAM117C, TSSN1	uc003srk.4	Q86VQ1	OTTHUMG00000151984	ENST00000223145.5:c.655C>A	7.37:g.8062158C>A	ENSP00000223145:p.Gln219Lys						p.Q219K	NM_138426	NP_612435	Q86VQ1	GLCI1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.206)	3	1214	+		Ovarian(82;0.0608)	219					A4D103|Q96FD0	Missense_Mutation	SNP	ENST00000223145.5	37	c.655C>A	CCDS34601.1	.	.	.	.	.	.	.	.	.	.	C	7.711	0.695208	0.15039	.	.	ENSG00000106415	ENST00000223145;ENST00000430798	.	.	.	4.96	4.96	0.65561	.	0.000000	0.85682	D	0.000000	T	0.50069	0.1594	N	0.13043	0.29	0.52501	D	0.999952	P	0.52577	0.954	D	0.67900	0.954	T	0.35176	-0.9799	9	0.02654	T	1	-26.1719	15.5927	0.76550	0.0:1.0:0.0:0.0	.	219	Q86VQ1	GLCI1_HUMAN	K	219;107	.	ENSP00000223145:Q219K	Q	+	1	0	GLCCI1	8028683	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.781000	0.62389	2.734000	0.93682	0.650000	0.86243	CAG		0.368	GLCCI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324672.1	NM_138426		7	99	1	0	5.18e-06	5.37e-06	7	99				
DNAH11	8701	broad.mit.edu	37	7	21695520	21695520	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr7:21695520C>T	ENST00000409508.3	+	29	5046	c.5015C>T	c.(5014-5016)tCt>tTt	p.S1672F	DNAH11_ENST00000328843.6_Missense_Mutation_p.S1677F	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	1677	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						CAGGATGTTTCTGCACACAGG	0.403									Kartagener syndrome																													uc003svc.2		NA																	0				ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1)	15						c.(5029-5031)TCT>TTT		dynein, axonemal, heavy chain 11							98.0	99.0	99.0					7																	21695520		1936	4141	6077	SO:0001583	missense	8701	Kartagener_syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr7:21695520C>T	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"""Axonemal dyneins"""	2942	protein-coding gene	gene with protein product	"""dynein, ciliary, heavy chain 11"", ""dynein, heavy chain beta-like"""	603339	"""dynein, axonemal, heavy polypeptide 11"""			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.5015C>T	7.37:g.21695520C>T	ENSP00000475939:p.Ser1672Phe						p.S1677F	NM_003777	NP_003768	Q96DT5	DYH11_HUMAN			29	5061	+			1677			Stem (By similarity).		Q9UJ82	Missense_Mutation	SNP	ENST00000409508.3	37	c.5030C>T		.	.	.	.	.	.	.	.	.	.	c	10.06	1.247828	0.22880	.	.	ENSG00000105877	ENST00000328843	T	0.26223	1.75	5.73	0.777	0.18538	Dynein heavy chain, domain-2 (1);	1.184290	0.05822	N	0.615866	T	0.21881	0.0527	.	.	.	0.09310	N	1	B	0.33512	0.415	B	0.37198	0.243	T	0.33752	-0.9856	9	0.59425	D	0.04	.	3.9253	0.09261	0.1226:0.3823:0.3576:0.1375	.	1677	Q96DT5	DYH11_HUMAN	F	1677	ENSP00000330671:S1677F	ENSP00000330671:S1677F	S	+	2	0	DNAH11	21662045	0.000000	0.05858	0.000000	0.03702	0.716000	0.41182	-0.056000	0.11787	0.073000	0.16731	-0.126000	0.14955	TCT		0.403	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	NM_003777		7	49	0	0	0	0	7	49				
VPS41	27072	broad.mit.edu	37	7	38785177	38785177	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr7:38785177C>G	ENST00000310301.4	-	23	2017	c.1963G>C	c.(1963-1965)Gag>Cag	p.E655Q	VPS41_ENST00000395969.2_Missense_Mutation_p.E630Q	NM_014396.3	NP_055211.2	P49754	VPS41_HUMAN	vacuolar protein sorting 41 homolog (S. cerevisiae)	655					Golgi vesicle transport (GO:0048193)|intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	cytosol (GO:0005829)|early endosome (GO:0005769)|Golgi-associated vesicle (GO:0005798)|HOPS complex (GO:0030897)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)	zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	44						TAAACTGTCTCTTCTACAAAG	0.338																																						uc003tgy.2		NA																	0				skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	4						c.(1963-1965)GAG>CAG		vacuolar protein sorting 41 isoform 1							122.0	123.0	123.0					7																	38785177		2203	4298	6501	SO:0001583	missense	27072				Golgi vesicle transport|intracellular protein transport|vesicle-mediated transport	cytosol|Golgi-associated vesicle|HOPS complex|membrane fraction	zinc ion binding	g.chr7:38785177C>G	U87309	CCDS5457.1, CCDS5458.2	7p14.1-p13	2009-05-08	2006-12-19		ENSG00000006715	ENSG00000006715			12713	protein-coding gene	gene with protein product		605485	"""vacuolar protein sorting 41 (yeast homolog)"", ""vacuolar protein sorting 41 (yeast)"""			9159129	Standard	NM_080631		Approved	HVSP41	uc003tgy.3	P49754	OTTHUMG00000023629	ENST00000310301.4:c.1963G>C	7.37:g.38785177C>G	ENSP00000309457:p.Glu655Gln					VPS41_uc003tgz.2_Missense_Mutation_p.E630Q|VPS41_uc010kxn.2_Missense_Mutation_p.E566Q|VPS41_uc003tgx.2_RNA	p.E655Q	NM_014396	NP_055211	P49754	VPS41_HUMAN			23	1989	-			655			Clathrin.		E9PF36|Q86TP8|Q99851|Q99852	Missense_Mutation	SNP	ENST00000310301.4	37	c.1963G>C	CCDS5457.1	.	.	.	.	.	.	.	.	.	.	C	26.3	4.724486	0.89298	.	.	ENSG00000006715	ENST00000310301;ENST00000395969	T;T	0.24908	1.83;1.83	5.57	5.57	0.84162	Tetratricopeptide-like helical (1);	0.157339	0.64402	D	0.000011	T	0.48554	0.1506	M	0.80508	2.5	0.80722	D	1	P;P;P	0.42518	0.782;0.782;0.782	P;P;P	0.50314	0.637;0.583;0.637	T	0.50516	-0.8819	10	0.87932	D	0	-29.9414	19.9302	0.97116	0.0:1.0:0.0:0.0	.	655;630;655	B2RB94;E9PF36;P49754	.;.;VPS41_HUMAN	Q	655;630	ENSP00000309457:E655Q;ENSP00000379297:E630Q	ENSP00000309457:E655Q	E	-	1	0	VPS41	38751702	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	7.625000	0.83145	2.782000	0.95742	0.557000	0.71058	GAG		0.338	VPS41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226986.3			45	154	0	0	0	0	45	154				
POM121L12	285877	broad.mit.edu	37	7	53103800	53103800	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr7:53103800C>T	ENST00000408890.4	+	1	452	c.436C>T	c.(436-438)Cgt>Tgt	p.R146C		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	146										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						GCCCCCTGAGCGTCAGGAGAG	0.711																																						uc003tpz.2		NA																	0					0						c.(436-438)CGT>TGT		POM121 membrane glycoprotein-like 12							19.0	23.0	21.0					7																	53103800		1927	4096	6023	SO:0001583	missense	285877							g.chr7:53103800C>T		CCDS43584.1	7p12.1	2012-03-13	2012-03-13		ENSG00000221900	ENSG00000221900			25369	protein-coding gene	gene with protein product			"""POM121 membrane glycoprotein-like 12"""				Standard	NM_182595		Approved	DKFZp564N2472	uc003tpz.3	Q8N7R1	OTTHUMG00000155995	ENST00000408890.4:c.436C>T	7.37:g.53103800C>T	ENSP00000386133:p.Arg146Cys						p.R146C	NM_182595	NP_872401	Q8N7R1	P1L12_HUMAN			1	452	+			146					Q8NDI9	Missense_Mutation	SNP	ENST00000408890.4	37	c.436C>T	CCDS43584.1	.	.	.	.	.	.	.	.	.	.	C	10.11	1.260434	0.23051	.	.	ENSG00000221900	ENST00000408890	T	0.26067	1.76	1.95	0.986	0.19784	.	.	.	.	.	T	0.15609	0.0376	L	0.43923	1.385	0.09310	N	1	P	0.41159	0.74	B	0.27715	0.082	T	0.14727	-1.0462	9	0.72032	D	0.01	.	5.9928	0.19476	0.0:0.6432:0.3568:0.0	.	146	Q8N7R1	P1L12_HUMAN	C	146	ENSP00000386133:R146C	ENSP00000386133:R146C	R	+	1	0	POM121L12	53071294	0.000000	0.05858	0.002000	0.10522	0.002000	0.02628	-0.918000	0.04021	0.357000	0.24183	0.455000	0.32223	CGT		0.711	POM121L12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342656.1	NM_182595		13	29	0	0	0	0	13	29				
HGF	3082	broad.mit.edu	37	7	81334827	81334827	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr7:81334827C>G	ENST00000222390.5	-	17	2115	c.1889G>C	c.(1888-1890)cGa>cCa	p.R630P	HGF_ENST00000457544.2_Missense_Mutation_p.R625P	NM_000601.4	NP_000592.3	P14210	HGF_HUMAN	hepatocyte growth factor (hepapoietin A; scatter factor)	630	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				activation of MAPK activity (GO:0000187)|blood coagulation (GO:0007596)|cell chemotaxis (GO:0060326)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|epithelial to mesenchymal transition (GO:0001837)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|hyaluronan metabolic process (GO:0030212)|liver development (GO:0001889)|mitotic nuclear division (GO:0007067)|myoblast proliferation (GO:0051450)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of hydrogen peroxide-mediated programmed cell death (GO:1901299)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|organ regeneration (GO:0031100)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive chemotaxis (GO:0050918)|positive regulation of cell migration (GO:0030335)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling (GO:0060665)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|platelet alpha granule lumen (GO:0031093)	catalytic activity (GO:0003824)|chemoattractant activity (GO:0042056)|growth factor activity (GO:0008083)|identical protein binding (GO:0042802)			NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						ATGTGCCACTCGTAATAGGCC	0.368																																						uc003uhl.2		NA																	0				ovary(2)|central_nervous_system(2)	4						c.(1888-1890)CGA>CCA		hepatocyte growth factor isoform 1							76.0	71.0	73.0					7																	81334827		2203	4300	6503	SO:0001583	missense	3082				epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity	g.chr7:81334827C>G		CCDS5597.1, CCDS47626.1, CCDS47627.1, CCDS47628.1, CCDS47629.1	7q21.1	2009-09-11			ENSG00000019991	ENSG00000019991			4893	protein-coding gene	gene with protein product	"""hepatopoietin A"", ""fibroblast-derived tumor cytotoxic factor"", ""scatter factor"", ""lung fibroblast-derived mitogen"""	142409	"""deafness, autosomal recessive 39"""	DFNB39		1837206, 19576567	Standard	XM_006715956		Approved	SF, F-TCF, HGFB, HPTA	uc003uhl.3	P14210	OTTHUMG00000023804	ENST00000222390.5:c.1889G>C	7.37:g.81334827C>G	ENSP00000222390:p.Arg630Pro					HGF_uc003uhm.2_Missense_Mutation_p.R625P	p.R630P	NM_000601	NP_000592	P14210	HGF_HUMAN			17	2054	-			630			Peptidase S1.		A1L3U6|Q02935|Q13494|Q14519|Q3KRB2|Q8TCE2|Q9BYL9|Q9BYM0|Q9UDU6	Missense_Mutation	SNP	ENST00000222390.5	37	c.1889G>C	CCDS5597.1	.	.	.	.	.	.	.	.	.	.	C	14.43	2.532583	0.45073	.	.	ENSG00000019991	ENST00000222390;ENST00000457544	D;D	0.89485	-2.52;-2.52	4.95	4.95	0.65309	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.114902	0.64402	D	0.000017	D	0.93210	0.7837	M	0.80028	2.48	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.71870	0.958;0.975	D	0.93176	0.6570	10	0.66056	D	0.02	.	8.9002	0.35490	0.0:0.7873:0.0:0.2127	.	625;630	P14210-3;P14210	.;HGF_HUMAN	P	630;625	ENSP00000222390:R630P;ENSP00000391238:R625P	ENSP00000222390:R630P	R	-	2	0	HGF	81172763	1.000000	0.71417	0.998000	0.56505	0.628000	0.37860	1.795000	0.38784	2.444000	0.82710	0.460000	0.39030	CGA		0.368	HGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253315.2	NM_000601		8	53	0	0	0	0	8	53				
PCLO	27445	broad.mit.edu	37	7	82583504	82583504	+	Silent	SNP	A	A	C			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr7:82583504A>C	ENST00000333891.9	-	5	7102	c.6765T>G	c.(6763-6765)ggT>ggG	p.G2255G	PCLO_ENST00000423517.2_Silent_p.G2255G	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CACTAGCTCTACCATCTGGTG	0.393																																						uc003uhx.2		NA																	0				ovary(7)	7						c.(6763-6765)GGT>GGG		piccolo isoform 1							74.0	72.0	73.0					7																	82583504		1870	4097	5967	SO:0001819	synonymous_variant	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82583504A>C	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.6765T>G	7.37:g.82583504A>C						PCLO_uc003uhv.2_Silent_p.G2255G|PCLO_uc010lec.2_5'Flank	p.G2255G	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN			5	7054	-			2186						Silent	SNP	ENST00000333891.9	37	c.6765T>G	CCDS47630.1																																																																																				0.393	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		9	76	0	0	0	0	9	76				
ABCB4	5244	broad.mit.edu	37	7	87072722	87072722	+	Silent	SNP	C	C	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr7:87072722C>T	ENST00000265723.4	-	12	1380	c.1269G>A	c.(1267-1269)caG>caA	p.Q423Q	ABCB4_ENST00000359206.3_Silent_p.Q423Q|ABCB4_ENST00000545634.1_Silent_p.Q423Q|ABCB4_ENST00000358400.3_Silent_p.Q423Q|ABCB4_ENST00000453593.1_Silent_p.Q423Q	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 4	423	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				cellular lipid metabolic process (GO:0044255)|lipid metabolic process (GO:0006629)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|xenobiotic-transporting ATPase activity (GO:0008559)			breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				Colchicine(DB01394)|Etravirine(DB06414)|Silodosin(DB06207)	GGGCCACCGTCTGCCCACTCT	0.493																																						uc003uiv.1		NA																	0				ovary(4)|skin(1)|pancreas(1)	6						c.(1267-1269)CAG>CAA		ATP-binding cassette, subfamily B, member 4							119.0	108.0	111.0					7																	87072722		2203	4300	6503	SO:0001819	synonymous_variant	5244				cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity	g.chr7:87072722C>T	M23234	CCDS5605.1, CCDS5606.1, CCDS5607.1	7q21	2012-03-14			ENSG00000005471	ENSG00000005471		"""ATP binding cassette transporters / subfamily B"""	45	protein-coding gene	gene with protein product		171060		PGY3, MDR3		2892668, 11313316	Standard	NM_018850		Approved	MDR2, PFIC-3, GBD1	uc003uiv.1	P21439	OTTHUMG00000023396	ENST00000265723.4:c.1269G>A	7.37:g.87072722C>T						ABCB4_uc003uiw.1_Silent_p.Q423Q|ABCB4_uc003uix.1_Silent_p.Q423Q	p.Q423Q	NM_018849	NP_061337	P21439	MDR3_HUMAN			12	1345	-	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)		423			ABC transporter 1.|Cytoplasmic (By similarity).		A0A2V7|A4D1D3|A4D1D4|A4D1D5|D6W5P3|D6W5P4|Q14813	Silent	SNP	ENST00000265723.4	37	c.1269G>A	CCDS5606.1																																																																																				0.493	ABCB4-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000336083.1	NM_000443		10	84	0	0	0	0	10	84				
DYNC1I1	1780	broad.mit.edu	37	7	95434085	95434085	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr7:95434085A>G	ENST00000324972.6	+	2	237	c.44A>G	c.(43-45)aAg>aGg	p.K15R	DYNC1I1_ENST00000447467.2_Missense_Mutation_p.K15R|DYNC1I1_ENST00000457059.1_Missense_Mutation_p.K15R|DYNC1I1_ENST00000359388.4_Missense_Mutation_p.K15R|DYNC1I1_ENST00000537881.1_Missense_Mutation_p.K15R|DYNC1I1_ENST00000413338.1_Missense_Mutation_p.K15R|DYNC1I1_ENST00000437599.1_Missense_Mutation_p.K15R	NM_004411.4	NP_004402.1	O14576	DC1I1_HUMAN	dynein, cytoplasmic 1, intermediate chain 1	15	Interaction with DCTN1. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|metabolic process (GO:0008152)|vesicle transport along microtubule (GO:0047496)	cytoplasmic dynein complex (GO:0005868)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|kinetochore (GO:0000776)|microtubule (GO:0005874)|perinuclear region of cytoplasm (GO:0048471)|spindle pole (GO:0000922)|vesicle (GO:0031982)	microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)|spectrin binding (GO:0030507)			NS(2)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(27)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	54	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)		STAD - Stomach adenocarcinoma(171;0.0957)			GAGCGCAAAAAGCAGCGCTTA	0.393																																						uc003uoc.3		NA																	0				ovary(3)|kidney(1)	4						c.(43-45)AAG>AGG		dynein, cytoplasmic 1, intermediate chain 1							84.0	91.0	89.0					7																	95434085		2202	4299	6501	SO:0001583	missense	1780				vesicle transport along microtubule	condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|perinuclear region of cytoplasm|spindle pole|vesicle	microtubule binding|microtubule motor activity	g.chr7:95434085A>G	AF063228	CCDS5644.1, CCDS47645.1, CCDS47646.1, CCDS64718.1	7q21.3-q22.1	2013-01-18	2005-11-24	2005-11-24	ENSG00000158560	ENSG00000158560		"""Cytoplasmic dyneins"", ""WD repeat domain containing"""	2963	protein-coding gene	gene with protein product		603772	"""dynein, cytoplasmic, intermediate polypeptide 1"""	DNCI1		10049579, 16260502	Standard	NM_004411		Approved	DNCIC1	uc003uoc.4	O14576	OTTHUMG00000153983	ENST00000324972.6:c.44A>G	7.37:g.95434085A>G	ENSP00000320130:p.Lys15Arg					DYNC1I1_uc003uod.3_Missense_Mutation_p.K15R|DYNC1I1_uc003uob.2_Missense_Mutation_p.K15R|DYNC1I1_uc003uoe.3_Missense_Mutation_p.K15R|DYNC1I1_uc010lfl.2_Missense_Mutation_p.K21R	p.K15R	NM_004411	NP_004402	O14576	DC1I1_HUMAN	STAD - Stomach adenocarcinoma(171;0.0957)		2	321	+	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)		15			Interaction with DCTN1 (By similarity).		B4DME3|F5H050|G5E9K1|Q8TBF7|Q9Y2X1	Missense_Mutation	SNP	ENST00000324972.6	37	c.44A>G	CCDS5644.1	.	.	.	.	.	.	.	.	.	.	A	22.4	4.287296	0.80803	.	.	ENSG00000158560	ENST00000447467;ENST00000524053;ENST00000324972;ENST00000537881;ENST00000437599;ENST00000359388;ENST00000413338;ENST00000518089;ENST00000457059	T;T;T;T;T;T	0.81415	-1.23;2.63;-1.49;-1.31;-1.29;-1.23	4.63	3.46	0.39613	.	0.000000	0.85682	D	0.000000	D	0.85080	0.5615	M	0.75615	2.305	0.43885	D	0.996505	D;D;D;D;D	0.62365	0.985;0.991;0.991;0.985;0.991	P;P;P;P;P	0.59595	0.728;0.86;0.86;0.728;0.86	T	0.82188	-0.0581	10	0.24483	T	0.36	-11.1869	10.5108	0.44860	0.9228:0.0:0.0772:0.0	.	15;15;15;15;15	Q7Z6M0;G5E9K1;O14576-2;O14576;O14576-3	.;.;.;DC1I1_HUMAN;.	R	15	ENSP00000392337:K15R;ENSP00000320130:K15R;ENSP00000438377:K15R;ENSP00000398118:K15R;ENSP00000352348:K15R;ENSP00000412444:K15R	ENSP00000320130:K15R	K	+	2	0	DYNC1I1	95272021	1.000000	0.71417	0.987000	0.45799	0.998000	0.95712	8.921000	0.92784	0.903000	0.36546	0.460000	0.39030	AAG		0.393	DYNC1I1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333432.1	NM_004411		3	5	0	0	0	0	3	5				
ZAN	7455	broad.mit.edu	37	7	100350144	100350144	+	RNA	SNP	G	G	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr7:100350144G>A	ENST00000348028.3	+	0	2581				ZAN_ENST00000349350.6_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000542585.1_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			CACCCCCACTGAGGAGACCAC	0.527																																						uc003uwj.2		NA																	0				ovary(4)|large_intestine(3)|central_nervous_system(2)|pancreas(2)	11						c.(2416-2418)GAG>AAG		zonadhesin isoform 3							208.0	243.0	232.0					7																	100350144		1878	4103	5981			7455				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		g.chr7:100350144G>A	U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"""zonadhesin"""			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100350144G>A						ZAN_uc003uwk.2_Missense_Mutation_p.E806K|ZAN_uc003uwl.2_RNA|ZAN_uc010lhh.2_RNA|ZAN_uc010lhi.2_RNA	p.E806K	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	STAD - Stomach adenocarcinoma(171;0.19)		14	2581	+	Lung NSC(181;0.041)|all_lung(186;0.0581)		806			66 X heptapeptide repeats (approximate) (mucin-like domain).|Extracellular (Potential).		A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	Missense_Mutation	SNP	ENST00000348028.3	37	c.2416G>A		.	.	.	.	.	.	.	.	.	.	g	14.05	2.420296	0.42918	.	.	ENSG00000146839	ENST00000546292;ENST00000538115;ENST00000542585	T;T;T	0.69175	-0.38;-0.38;-0.38	3.58	1.65	0.23941	.	.	.	.	.	T	0.56834	0.2012	M	0.62723	1.935	0.19775	N	0.999953	B;B	0.27882	0.192;0.121	B;B	0.23018	0.043;0.019	T	0.53443	-0.8438	9	0.62326	D	0.03	.	2.8923	0.05680	0.1083:0.1762:0.5352:0.1803	.	806;806	F5H0T8;Q9Y493	.;ZAN_HUMAN	K	806	ENSP00000445943:E806K;ENSP00000445091:E806K;ENSP00000444427:E806K	ENSP00000423579:E806K	E	+	1	0	ZAN	100188080	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-0.677000	0.05215	0.251000	0.21505	0.585000	0.79938	GAG		0.527	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	NM_003386		9	74	0	0	0	0	9	74				
CUX1	1523	broad.mit.edu	37	7	101813790	101813790	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr7:101813790C>G	ENST00000292535.7	+	10	826	c.788C>G	c.(787-789)tCc>tGc	p.S263C	CUX1_ENST00000547394.2_Missense_Mutation_p.S258C|CUX1_ENST00000360264.3_Missense_Mutation_p.S274C|CUX1_ENST00000437600.4_Missense_Mutation_p.S274C|CUX1_ENST00000425244.2_Missense_Mutation_p.S228C|CUX1_ENST00000549414.2_Missense_Mutation_p.S263C|CUX1_ENST00000393824.3_Missense_Mutation_p.S237C|CUX1_ENST00000292538.4_Missense_Mutation_p.S274C|CUX1_ENST00000546411.2_Missense_Mutation_p.S263C|CUX1_ENST00000560541.1_3'UTR|CUX1_ENST00000556210.1_Missense_Mutation_p.S263C|CUX1_ENST00000550008.2_Missense_Mutation_p.S263C	NM_181552.3	NP_853530.2	P39880	CUX1_HUMAN	cut-like homeobox 1	263					auditory receptor cell differentiation (GO:0042491)|kidney development (GO:0001822)|lung development (GO:0030324)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|retrograde transport, vesicle recycling within Golgi (GO:0000301)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						GCCAATCACTCCCTCCAGCTG	0.602																																						uc003uyx.3		NA																	0				ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1)	8						c.(787-789)TCC>TGC		cut-like homeobox 1 isoform a							40.0	30.0	34.0					7																	101813790		2203	4298	6501	SO:0001583	missense	1523				negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:101813790C>G	M74099	CCDS5720.1, CCDS5721.1, CCDS47672.1, CCDS56498.1, CCDS56499.1, CCDS56500.1, CCDS59071.1	7q22.1	2012-10-03	2007-11-07	2007-11-07	ENSG00000257923	ENSG00000257923		"""Homeoboxes / CUT class"""	2557	protein-coding gene	gene with protein product	"""golgi integral membrane protein 6"""	116896	"""cut (Drosophila)-like 1 (CCAAT displacement protein)"", ""cut-like 1, CCAAT displacement protein (Drosophila)"""	CUTL1		8468066, 9799793, 15004235	Standard	NM_001202543		Approved	CDP, CDP1, CUX, CUT, Clox, CDP/Cut, CDP/Cux, Cux/CDP, CASP, GOLIM6	uc003uyx.4	P39880	OTTHUMG00000157129	ENST00000292535.7:c.788C>G	7.37:g.101813790C>G	ENSP00000292535:p.Ser263Cys					CUX1_uc003uys.3_Missense_Mutation_p.S274C|CUX1_uc003uyt.2_Missense_Mutation_p.S274C|CUX1_uc011kkn.1_Missense_Mutation_p.S237C|CUX1_uc003uyw.2_Missense_Mutation_p.S228C|CUX1_uc003uyv.2_Missense_Mutation_p.S258C|CUX1_uc003uyu.2_Missense_Mutation_p.S274C	p.S263C	NM_181552	NP_853530	P39880	CUX1_HUMAN			10	826	+			263			Potential.		B3KV79|J3KQV9|Q6NYH4|Q75LE5|Q75MT2|Q75MT3|Q86UJ7|Q9UEV5	Missense_Mutation	SNP	ENST00000292535.7	37	c.788C>G	CCDS5721.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.494634	0.85069	.	.	ENSG00000257923	ENST00000292538;ENST00000547394;ENST00000360264;ENST00000425244;ENST00000437600;ENST00000292535;ENST00000549414;ENST00000550008;ENST00000546411;ENST00000556210	T;T;T;T;T;T;T;T;T;T	0.45668	0.89;0.89;0.89;2.19;0.93;0.89;0.89;0.89;0.89;0.89	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	T	0.63768	0.2539	L	0.58510	1.815	0.58432	D	0.999996	D;D;D;D;D;D;D	0.89917	0.998;0.999;0.998;1.0;0.999;0.998;0.999	P;P;P;D;D;P;D	0.72075	0.862;0.887;0.862;0.976;0.935;0.862;0.947	T	0.63959	-0.6519	10	0.87932	D	0	-17.0772	20.0826	0.97783	0.0:1.0:0.0:0.0	.	237;263;228;258;274;274;274	B4DZZ2;P39880;B3KV79;G3V1Z6;Q13948-2;Q13948;P39880-3	.;CUX1_HUMAN;.;.;.;CASP_HUMAN;.	C	274;258;274;228;274;263;263;263;263;263	ENSP00000292538:S274C;ENSP00000449371:S258C;ENSP00000353401:S274C;ENSP00000409745:S228C;ENSP00000414091:S274C;ENSP00000292535:S263C;ENSP00000446630:S263C;ENSP00000447373:S263C;ENSP00000450125:S263C;ENSP00000451558:S263C	ENSP00000292535:S263C	S	+	2	0	CUX1	101600510	1.000000	0.71417	0.999000	0.59377	0.978000	0.69477	6.999000	0.76283	2.746000	0.94184	0.655000	0.94253	TCC		0.602	CUX1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347535.1	NM_001913		2	7	0	0	0	0	2	7				
ALKBH4	54784	broad.mit.edu	37	7	102100194	102100194	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr7:102100194C>A	ENST00000292566.3	-	2	217	c.178G>T	c.(178-180)Gag>Tag	p.E60*		NM_017621.3	NP_060091.1	Q9NXW9	ALKB4_HUMAN	alkB, alkylation repair homolog 4 (E. coli)	60					actomyosin structure organization (GO:0031032)|cleavage furrow ingression (GO:0036090)|protein demethylation (GO:0006482)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	contractile ring (GO:0070938)|cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)	actin binding (GO:0003779)|demethylase activity (GO:0032451)|metal ion binding (GO:0046872)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)			kidney(1)|lung(5)|skin(2)	8						AAGTCAGACTCCTCTGTGCCC	0.572																																						uc003uzl.2		NA																	0					0						c.(178-180)GAG>TAG		alkB, alkylation repair homolog 4							82.0	77.0	79.0					7																	102100194		2203	4300	6503	SO:0001587	stop_gained	54784					cytoplasm|nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr7:102100194C>A	BC017096	CCDS5723.1	7q22.1	2006-02-09			ENSG00000160993	ENSG00000160993		"""Alkylation repair homologs"""	21900	protein-coding gene	gene with protein product		613302					Standard	NM_017621		Approved	FLJ20013	uc003uzl.3	Q9NXW9	OTTHUMG00000157720	ENST00000292566.3:c.178G>T	7.37:g.102100194C>A	ENSP00000292566:p.Glu60*					ALKBH4_uc003uzm.2_Intron	p.E60*	NM_017621	NP_060091	Q9NXW9	ALKB4_HUMAN			2	183	-			60					Q53H92|Q9H6A4	Nonsense_Mutation	SNP	ENST00000292566.3	37	c.178G>T	CCDS5723.1	.	.	.	.	.	.	.	.	.	.	C	12.93	2.085797	0.36758	.	.	ENSG00000160993	ENST00000292566	.	.	.	4.51	3.39	0.38822	.	0.861580	0.10135	N	0.711622	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06891	T	0.86	-17.5693	7.2256	0.26014	0.0:0.5922:0.2974:0.1104	.	.	.	.	X	60	.	ENSP00000292566:E60X	E	-	1	0	ALKBH4	101887199	0.000000	0.05858	0.812000	0.32479	0.352000	0.29268	0.546000	0.23284	2.055000	0.61198	0.561000	0.74099	GAG		0.572	ALKBH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349503.1	NM_017621		13	77	1	0	1.5e-05	1.55e-05	13	77				
PUS7	54517	broad.mit.edu	37	7	105146708	105146708	+	Silent	SNP	G	G	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr7:105146708G>A	ENST00000356362.2	-	3	625	c.411C>T	c.(409-411)ttC>ttT	p.F137F	PUS7_ENST00000469408.1_Silent_p.F137F	NM_019042.3	NP_061915.2	Q96PZ0	PUS7_HUMAN	pseudouridylate synthase 7 (putative)	137					pseudouridine synthesis (GO:0001522)|tRNA processing (GO:0008033)		enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|pseudouridine synthase activity (GO:0009982)			breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(8)|pancreas(1)|skin(1)	23						CATGAACAACGAAGTCGGAGT	0.363																																					Colon(138;2387 3051 17860)	uc003vcx.2		NA																	0				breast(1)	1						c.(409-411)TTC>TTT		pseudouridylate synthase 7 homolog							64.0	63.0	63.0					7																	105146708		2203	4300	6503	SO:0001819	synonymous_variant	54517				pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding	g.chr7:105146708G>A	AK128629	CCDS34725.1	7q22.3	2014-02-14	2014-02-14		ENSG00000091127	ENSG00000091127			26033	protein-coding gene	gene with protein product			"""pseudouridylate synthase 7 homolog (S. cerevisiae)"""			11572484	Standard	NM_019042		Approved	FLJ20485	uc003vcx.3	Q96PZ0	OTTHUMG00000157399	ENST00000356362.2:c.411C>T	7.37:g.105146708G>A						PUS7_uc010lji.2_Silent_p.F137F|PUS7_uc003vcy.2_Silent_p.F137F|PUS7_uc003vcz.1_Silent_p.F137F	p.F137F	NM_019042	NP_061915	Q96PZ0	PUS7_HUMAN			3	630	-			137					Q75MG4|Q9NX19	Silent	SNP	ENST00000356362.2	37	c.411C>T	CCDS34725.1	.	.	.	.	.	.	.	.	.	.	G	9.739	1.164404	0.21538	.	.	ENSG00000091127	ENST00000482157	.	.	.	5.45	-3.65	0.04502	.	.	.	.	.	T	0.63593	0.2524	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.62553	-0.6830	4	.	.	.	0.2461	14.4595	0.67440	0.6738:0.0:0.3262:0.0	.	.	.	.	C	12	.	.	R	-	1	0	PUS7	104933944	0.412000	0.25392	0.767000	0.31495	0.989000	0.77384	-0.295000	0.08298	-0.733000	0.04850	-0.251000	0.11542	CGT		0.363	PUS7-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348681.1	NM_019042		7	34	0	0	0	0	7	34				
NAMPT	10135	broad.mit.edu	37	7	105893498	105893498	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr7:105893498C>G	ENST00000222553.3	-	10	1637	c.1330G>C	c.(1330-1332)Gag>Cag	p.E444Q		NM_005746.2	NP_005737.1	P43490	NAMPT_HUMAN	nicotinamide phosphoribosyltransferase	444					cell-cell signaling (GO:0007267)|circadian regulation of gene expression (GO:0032922)|NAD biosynthetic process (GO:0009435)|NAD metabolic process (GO:0019674)|nicotinamide metabolic process (GO:0006769)|positive regulation of cell proliferation (GO:0008284)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	cytokine activity (GO:0005125)|nicotinamide phosphoribosyltransferase activity (GO:0047280)|nicotinate-nucleotide diphosphorylase (carboxylating) activity (GO:0004514)			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	14						TTTCCTTCCTCCAGTGTAACA	0.408																																						uc003vdq.2		NA																	0				large_intestine(1)	1						c.(1330-1332)GAG>CAG		nicotinamide phosphoribosyltransferase							97.0	93.0	95.0					7																	105893498		2203	4300	6503	SO:0001583	missense	10135				cell-cell signaling|NAD biosynthetic process|nicotinamide metabolic process|positive regulation of cell proliferation|positive regulation of nitric-oxide synthase biosynthetic process|signal transduction|water-soluble vitamin metabolic process	cytosol	cytokine activity|nicotinamide phosphoribosyltransferase activity|nicotinate phosphoribosyltransferase activity|nicotinate-nucleotide diphosphorylase (carboxylating) activity	g.chr7:105893498C>G	U02020	CCDS5737.1	7q22.3	2012-10-02	2008-03-27	2008-03-27	ENSG00000105835	ENSG00000105835			30092	protein-coding gene	gene with protein product	"""visfatin"""	608764	"""pre-B-cell colony enhancing factor 1"""	PBEF1		8289818	Standard	NM_005746		Approved	PBEF	uc003vdq.3	P43490	OTTHUMG00000140388	ENST00000222553.3:c.1330G>C	7.37:g.105893498C>G	ENSP00000222553:p.Glu444Gln						p.E444Q	NM_005746	NP_005737	P43490	NAMPT_HUMAN			10	1638	-			444					A4D0Q9|A4D0R0|Q3KQV0|Q8WW95	Missense_Mutation	SNP	ENST00000222553.3	37	c.1330G>C	CCDS5737.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.178668	0.78564	.	.	ENSG00000105835	ENST00000222553	.	.	.	5.36	5.36	0.76844	Quinolinate phosphoribosyl transferase, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.59824	0.2222	N	0.11756	0.17	0.80722	D	1	D	0.76494	0.999	D	0.81914	0.995	T	0.56396	-0.7986	9	0.16420	T	0.52	-8.9765	19.4399	0.94815	0.0:1.0:0.0:0.0	.	444	P43490	NAMPT_HUMAN	Q	444	.	ENSP00000222553:E444Q	E	-	1	0	NAMPT	105680734	1.000000	0.71417	0.999000	0.59377	0.898000	0.52572	7.046000	0.76592	2.672000	0.90937	0.655000	0.94253	GAG		0.408	NAMPT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277146.1	NM_182790		10	55	0	0	0	0	10	55				
FOXP2	93986	broad.mit.edu	37	7	114329955	114329955	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr7:114329955G>A	ENST00000393494.2	+	17	2401	c.2122G>A	c.(2122-2124)Gag>Aag	p.E708K	FOXP2_ENST00000403559.4_Missense_Mutation_p.E725K|FOXP2_ENST00000393498.2_Missense_Mutation_p.E687K|FOXP2_ENST00000393489.3_Missense_Mutation_p.E616K|FOXP2_ENST00000393491.3_Missense_Mutation_p.E523K|FOXP2_ENST00000350908.4_Missense_Mutation_p.E708K|FOXP2_ENST00000408937.3_Missense_Mutation_p.E733K			O15409	FOXP2_HUMAN	forkhead box P2	708					camera-type eye development (GO:0043010)|caudate nucleus development (GO:0021757)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|growth (GO:0040007)|lung alveolus development (GO:0048286)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of mesenchymal cell proliferation (GO:0002053)|post-embryonic development (GO:0009791)|putamen development (GO:0021758)|righting reflex (GO:0060013)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|vocal learning (GO:0042297)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						GATTGAAGAAGAGCCTTTATC	0.438																																						uc003vhb.2		NA																	0				ovary(4)|pancreas(1)|lung(1)|breast(1)|skin(1)	8						c.(2122-2124)GAG>AAG		forkhead box P2 isoform I							136.0	127.0	130.0					7																	114329955		2203	4300	6503	SO:0001583	missense	93986				camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding	g.chr7:114329955G>A	U80741	CCDS5760.1, CCDS5761.1, CCDS43635.1, CCDS5761.2, CCDS55154.1	7q31	2008-07-18			ENSG00000128573	ENSG00000128573		"""Forkhead boxes"""	13875	protein-coding gene	gene with protein product	"""trinucleotide repeat containing 10"", ""forkhead/winged-helix transcription factor"", ""speech and language disorder 1"", ""CAG repeat protein 44"""	605317		TNRC10, SPCH1		11586359, 9225980	Standard	NM_014491		Approved	CAGH44	uc003vgz.3	O15409	OTTHUMG00000023131	ENST00000393494.2:c.2122G>A	7.37:g.114329955G>A	ENSP00000377132:p.Glu708Lys					FOXP2_uc003vgu.2_RNA|FOXP2_uc003vgz.2_Missense_Mutation_p.E733K|FOXP2_uc003vha.2_Missense_Mutation_p.E616K|FOXP2_uc011kmu.1_Missense_Mutation_p.E725K|FOXP2_uc011kmv.1_Missense_Mutation_p.E707K|FOXP2_uc010ljz.1_Missense_Mutation_p.E523K	p.E708K	NM_014491	NP_055306	O15409	FOXP2_HUMAN			17	2496	+			708					A0AUV6|A4D0U8|A6NNW4|B4DLD9|Q6ZND1|Q75MJ3|Q8IZE0|Q8N0W2|Q8N6B7|Q8N6B8|Q8NFQ1|Q8NFQ2|Q8NFQ3|Q8NFQ4|Q8TD74	Missense_Mutation	SNP	ENST00000393494.2	37	c.2122G>A	CCDS5760.1	.	.	.	.	.	.	.	.	.	.	G	18.29	3.590859	0.66219	.	.	ENSG00000128573	ENST00000393494;ENST00000408937;ENST00000403559;ENST00000350908;ENST00000393498;ENST00000393489;ENST00000393491	D;D;D;D;D;D	0.92199	-2.72;-2.71;-2.74;-2.72;-2.81;-2.99	5.96	5.96	0.96718	.	0.046228	0.85682	D	0.000000	D	0.90021	0.6884	L	0.34521	1.04	0.80722	D	1	B;B;B;B;B	0.27732	0.067;0.118;0.118;0.067;0.187	B;B;B;B;B	0.32762	0.034;0.05;0.05;0.034;0.152	D	0.86891	0.2048	10	0.72032	D	0.01	.	20.4192	0.99033	0.0:0.0:1.0:0.0	.	707;725;523;708;733	B7ZLK5;B4DLD9;Q0PRL4;O15409;O15409-4	.;.;.;FOXP2_HUMAN;.	K	708;733;725;708;685;616;523	ENSP00000377132:E708K;ENSP00000386200:E733K;ENSP00000385069:E725K;ENSP00000265436:E708K;ENSP00000377129:E616K;ENSP00000377130:E523K	ENSP00000265436:E708K	E	+	1	0	FOXP2	114117191	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.476000	0.97823	2.831000	0.97527	0.650000	0.86243	GAG		0.438	FOXP2-014	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317366.1	NM_014491		9	60	0	0	0	0	9	60				
CADPS2	93664	broad.mit.edu	37	7	122261717	122261717	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr7:122261717C>G	ENST00000449022.2	-	5	941	c.922G>C	c.(922-924)Gag>Cag	p.E308Q	CADPS2_ENST00000412584.2_Missense_Mutation_p.E308Q|CADPS2_ENST00000334010.7_Missense_Mutation_p.E308Q|CADPS2_ENST00000313070.7_Missense_Mutation_p.E308Q	NM_017954.10	NP_060424.9	Q86UW7	CAPS2_HUMAN	Ca++-dependent secretion activator 2	308					cellular response to starvation (GO:0009267)|positive regulation of exocytosis (GO:0045921)|protein transport (GO:0015031)|synaptic vesicle priming (GO:0016082)	cell junction (GO:0030054)|cytoplasmic membrane-bounded vesicle (GO:0016023)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2)	43						GACCGCAACTCTTCTATATAC	0.299																																						uc010lkp.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(922-924)GAG>CAG		Ca2+-dependent activator protein for secretion 2							68.0	68.0	68.0					7																	122261717		1787	4063	5850	SO:0001583	missense	93664				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|synapse	lipid binding|metal ion binding	g.chr7:122261717C>G		CCDS47691.1, CCDS55158.1	7q31.32	2013-01-10	2008-08-28		ENSG00000081803	ENSG00000081803		"""Pleckstrin homology (PH) domain containing"""	16018	protein-coding gene	gene with protein product		609978	"""Ca++-dependent activator protein for secretion 2"""				Standard	NM_017954		Approved		uc010lkq.3	Q86UW7	OTTHUMG00000157093	ENST00000449022.2:c.922G>C	7.37:g.122261717C>G	ENSP00000398481:p.Glu308Gln					CADPS2_uc003vkg.3_Missense_Mutation_p.E8Q|CADPS2_uc010lkq.2_Missense_Mutation_p.E308Q	p.E308Q	NM_017954	NP_060424	Q86UW7	CAPS2_HUMAN			5	1085	-			308					A4D0X3|B7ZM56|Q658Q2|Q7Z5T7|Q8IZW9|Q8N7M4|Q9H6P4|Q9HCI1|Q9NWK8	Missense_Mutation	SNP	ENST00000449022.2	37	c.922G>C	CCDS55158.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.871786	0.91587	.	.	ENSG00000081803	ENST00000313070;ENST00000334010;ENST00000420900;ENST00000545465;ENST00000412584;ENST00000449022	T;T;T;T	0.61274	0.12;0.12;0.12;0.14	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	T	0.79627	0.4478	M	0.82823	2.61	0.80722	D	1	D;D;D	0.89917	1.0;0.997;0.996	D;D;D	0.91635	0.999;0.986;0.991	T	0.81992	-0.0678	10	0.87932	D	0	-18.9129	19.6159	0.95633	0.0:1.0:0.0:0.0	.	308;308;308	Q86UW7-2;Q86UW7;Q86UW7-3	.;CAPS2_HUMAN;.	Q	308;308;308;275;308;308	ENSP00000325581:E308Q;ENSP00000333940:E308Q;ENSP00000400401:E308Q;ENSP00000398481:E308Q	ENSP00000325581:E308Q	E	-	1	0	CADPS2	122048953	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.818000	0.86416	2.644000	0.89710	0.467000	0.42956	GAG		0.299	CADPS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347414.2	NM_017954		9	48	0	0	0	0	9	48				
RBM28	55131	broad.mit.edu	37	7	127975631	127975631	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr7:127975631C>G	ENST00000223073.2	-	8	1026	c.912G>C	c.(910-912)caG>caC	p.Q304H	RBM28_ENST00000415472.2_Missense_Mutation_p.Q163H	NM_018077.2	NP_060547.2	Q9NW13	RBM28_HUMAN	RNA binding motif protein 28	304					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleolus (GO:0005730)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|kidney(7)|large_intestine(3)|lung(8)|ovary(2)	21						TGGTATCACTCTGAGCCAGTT	0.423																																						uc003vmp.2		NA																	0				ovary(2)	2						c.(910-912)CAG>CAC		RNA binding motif protein 28							116.0	106.0	109.0					7																	127975631		2203	4300	6503	SO:0001583	missense	55131				mRNA processing|RNA splicing	Golgi apparatus|nucleolus|spliceosomal complex	nucleotide binding|RNA binding	g.chr7:127975631C>G	AK001239	CCDS5801.1, CCDS55159.1	7q32.2	2013-02-12			ENSG00000106344	ENSG00000106344		"""RNA binding motif (RRM) containing"""	21863	protein-coding gene	gene with protein product		612074					Standard	NM_018077		Approved	FLJ10377	uc003vmp.2	Q9NW13	OTTHUMG00000157711	ENST00000223073.2:c.912G>C	7.37:g.127975631C>G	ENSP00000223073:p.Gln304His					RBM28_uc003vmo.2_5'UTR|RBM28_uc011koj.1_Missense_Mutation_p.Q163H|RBM28_uc011kok.1_Missense_Mutation_p.Q251H	p.Q304H	NM_018077	NP_060547	Q9NW13	RBM28_HUMAN			8	1027	-			304					A4D100|B4DU52|E9PDD9|Q53H65|Q96CV3	Missense_Mutation	SNP	ENST00000223073.2	37	c.912G>C	CCDS5801.1	.	.	.	.	.	.	.	.	.	.	C	12.40	1.926741	0.34002	.	.	ENSG00000106344	ENST00000223073;ENST00000415472;ENST00000478061	T;T;T	0.21031	2.98;2.03;2.16	5.17	1.25	0.21368	.	1.037680	0.07552	N	0.915609	T	0.12774	0.0310	N	0.19112	0.55	0.09310	N	1	B;B	0.09022	0.002;0.001	B;B	0.06405	0.002;0.002	T	0.32851	-0.9891	10	0.46703	T	0.11	0.0541	4.1044	0.10030	0.0:0.5229:0.1832:0.2939	.	163;304	E9PDD9;Q9NW13	.;RBM28_HUMAN	H	304;163;273	ENSP00000223073:Q304H;ENSP00000390517:Q163H;ENSP00000418071:Q273H	ENSP00000223073:Q304H	Q	-	3	2	RBM28	127762867	0.435000	0.25577	0.096000	0.21009	0.441000	0.31987	0.421000	0.21280	0.184000	0.20083	-0.291000	0.09656	CAG		0.423	RBM28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349442.2	NM_018077		5	37	0	0	0	0	5	37				
NUP205	23165	broad.mit.edu	37	7	135289087	135289087	+	Splice_Site	SNP	G	G	C			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr7:135289087G>C	ENST00000285968.6	+	19	2728		c.e19-1			NM_015135.2	NP_055950	Q92621	NU205_HUMAN	nucleoporin 205kDa						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)|nuclear pore complex assembly (GO:0051292)|nucleocytoplasmic transport (GO:0006913)|protein import into nucleus, docking (GO:0000059)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)			breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						TTTCTTTAAAGATACCTATAT	0.348																																						uc003vsw.2		NA																	0				ovary(3)|breast(1)|central_nervous_system(1)|skin(1)	6						c.e19-1		nucleoporin 205kDa							67.0	62.0	64.0					7																	135289087		2202	4300	6502	SO:0001630	splice_region_variant	23165				carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding	g.chr7:135289087G>C	D86978	CCDS34759.1	7q31.32	2007-03-26	2004-01-06	2004-01-07	ENSG00000155561	ENSG00000155561			18658	protein-coding gene	gene with protein product		614352	"""chromosome 7 open reading frame 14"""	C7orf14		9039502, 9348540	Standard	NM_015135		Approved	KIAA0225	uc003vsw.3	Q92621	OTTHUMG00000155497	ENST00000285968.6:c.2703-1G>C	7.37:g.135289087G>C							p.R901_splice	NM_015135	NP_055950	Q92621	NU205_HUMAN			19	2734	+								A6H8X3|Q86YC1	Splice_Site	SNP	ENST00000285968.6	37	c.2703_splice	CCDS34759.1	.	.	.	.	.	.	.	.	.	.	G	15.51	2.856328	0.51376	.	.	ENSG00000155561	ENST00000285968	.	.	.	5.19	5.19	0.71726	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.7182	0.91684	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NUP205	134939627	1.000000	0.71417	0.813000	0.32504	0.383000	0.30230	9.415000	0.97375	2.405000	0.81733	0.460000	0.39030	.		0.348	NUP205-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340358.1		Intron	7	23	0	0	0	0	7	23				
BRAF	673	broad.mit.edu	37	7	140453110	140453110	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr7:140453110G>C	ENST00000288602.6	-	15	1885	c.1825C>G	c.(1825-1827)Cag>Gag	p.Q609E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	609	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)		SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TGTTCAAACTGATGGGACCCA	0.393		61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	uc003vwc.3		61		Dom	yes		7	7q34	673	Mis|T|O	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	AKAP9|KIAA1549		melanoma|colorectal|papillary thyroid|borderline ov|Non small-cell lung cancer (NSCLC)|cholangiocarcinoma|pilocytic astrocytoma	KIAA1549/BRAF(229)|AKAP9_ENST00000356239/BRAF(10)|AGTRAP/BRAF(2)|FCHSD1/BRAF(2)|SLC45A3/BRAF(2)	0		p.Q609R(1)|p.Q609Q(1)|p.Q609*(1)		thyroid(8166)|large_intestine(5052)|skin(3798)|NS(368)|central_nervous_system(284)|ovary(236)|lung(78)|eye(53)|prostate(44)|endometrium(30)|biliary_tract(28)|soft_tissue(27)|haematopoietic_and_lymphoid_tissue(22)|breast(18)|upper_aerodigestive_tract(13)|stomach(13)|pancreas(10)|small_intestine(10)|testis(7)|bone(6)|cervix(5)|genital_tract(4)|oesophagus(3)|urinary_tract(3)|adrenal_gland(3)|gastrointestinal_tract_(site_indeterminate)(2)|liver(2)|meninges(1)|kidney(1)|autonomic_ganglia(1)|pituitary(1)|salivary_gland(1)	18290						c.(1825-1827)CAG>GAG		B-Raf	Sorafenib(DB00398)						103.0	95.0	98.0					7																	140453110		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous_syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453110G>C	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"""v-raf murine sarcoma viral oncogene homolog B"""			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1825C>G	7.37:g.140453110G>C	ENSP00000288602:p.Gln609Glu						p.Q609E	NM_004333	NP_004324	P15056	BRAF_HUMAN			15	1886	-	Melanoma(164;0.00956)		609			Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1825C>G	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.25|16.25	3.070972|3.070972	0.55646|0.55646	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000496384|ENST00000288602	.|D	.|0.82255	.|-1.59	5.65|5.65	5.65|5.65	0.86999|0.86999	.|Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.73976|0.73976	0.3656|0.3656	N|N	0.12502|0.12502	0.225|0.225	0.80722|0.80722	D|D	1|1	.|P	.|0.38300	.|0.626	.|B	.|0.37550	.|0.253	T|T	0.78181|0.78181	-0.2304|-0.2304	5|10	.|0.87932	.|D	.|0	.|.	19.7917|19.7917	0.96461|0.96461	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|609	.|P15056	.|BRAF_HUMAN	M|E	216|609	.|ENSP00000288602:Q609E	.|ENSP00000288602:Q609E	I|Q	-|-	3|1	3|0	BRAF|BRAF	140099579|140099579	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	9.717000|9.717000	0.98755|0.98755	2.686000|2.686000	0.91538|0.91538	0.650000|0.650000	0.86243|0.86243	ATC|CAG		0.393	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		10	52	0	0	0	0	10	52				
CUL1	8454	broad.mit.edu	37	7	148495716	148495716	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr7:148495716G>T	ENST00000325222.4	+	20	2362	c.2083G>T	c.(2083-2085)Gaa>Taa	p.E695*	CUL1_ENST00000602748.1_Nonsense_Mutation_p.E695*|CUL1_ENST00000409469.1_Nonsense_Mutation_p.E695*	NM_003592.2	NP_003583.2	Q13616	CUL1_HUMAN	cullin 1	695					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway (GO:0097193)|mitotic cell cycle (GO:0000278)|negative regulation of cell proliferation (GO:0008285)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein monoubiquitination (GO:0006513)|protein ubiquitination (GO:0016567)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|viral process (GO:0016032)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|SCF ubiquitin ligase complex (GO:0019005)				breast(2)|central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(10)|liver(2)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	40	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)			ACAGAAGCAGGAACAAGAAAC	0.418																																						uc010lpg.2		NA																	0				lung(1)	1						c.(2083-2085)GAA>TAA		cullin 1							226.0	203.0	211.0					7																	148495716		2203	4300	6503	SO:0001587	stop_gained	8454				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein ubiquitination|S phase of mitotic cell cycle|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytosol|nucleoplasm|SCF ubiquitin ligase complex	ubiquitin protein ligase binding	g.chr7:148495716G>T	U58087	CCDS34772.1	7q36.1	2011-05-24			ENSG00000055130	ENSG00000055130			2551	protein-coding gene	gene with protein product		603134				8681378	Standard	NM_003592		Approved		uc003wey.3	Q13616	OTTHUMG00000152776	ENST00000325222.4:c.2083G>T	7.37:g.148495716G>T	ENSP00000326804:p.Glu695*					CUL1_uc003wey.2_Nonsense_Mutation_p.E695*|CUL1_uc003wez.2_Nonsense_Mutation_p.E585*|CUL1_uc003wfa.2_Nonsense_Mutation_p.E356*	p.E695*	NM_003592	NP_003583	Q13616	CUL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00291)		20	2609	+	Melanoma(164;0.15)		695					D3DWG3|O60719|Q08AL6|Q8IYW1	Nonsense_Mutation	SNP	ENST00000325222.4	37	c.2083G>T	CCDS34772.1	.	.	.	.	.	.	.	.	.	.	.	42	9.538452	0.99199	.	.	ENSG00000055130	ENST00000409469;ENST00000325222;ENST00000433865	.	.	.	4.91	4.91	0.64330	.	0.047100	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-27.6402	18.11	0.89532	0.0:0.0:1.0:0.0	.	.	.	.	X	695;695;622	.	ENSP00000326804:E695X	E	+	1	0	CUL1	148126649	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.430000	0.97488	2.272000	0.75746	0.462000	0.41574	GAA		0.418	CUL1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467785.1	NM_003592		14	72	1	0	1.15e-07	1.21e-07	14	72				
ZNF425	155054	broad.mit.edu	37	7	148801943	148801943	+	Silent	SNP	G	G	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr7:148801943G>A	ENST00000378061.2	-	4	1152	c.1020C>T	c.(1018-1020)cgC>cgT	p.R340R		NM_001001661.2	NP_001001661.1	Q6IV72	ZN425_HUMAN	zinc finger protein 425	340					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(6)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	50	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			CCCTCTTCAGGCGGAAGCACC	0.662																																						uc003wfj.2		NA																	0				breast(2)|ovary(1)	3						c.(1018-1020)CGC>CGT		zinc finger protein 425							46.0	43.0	44.0					7																	148801943		2203	4300	6503	SO:0001819	synonymous_variant	155054				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	g.chr7:148801943G>A	AK056498	CCDS34773.1	7q36.1	2013-01-08			ENSG00000204947	ENSG00000204947		"""Zinc fingers, C2H2-type"", ""-"""	20690	protein-coding gene	gene with protein product							Standard	NM_001001661		Approved		uc003wfj.3	Q6IV72	OTTHUMG00000158971	ENST00000378061.2:c.1020C>T	7.37:g.148801943G>A							p.R340R	NM_001001661	NP_001001661	Q6IV72	ZN425_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00463)		4	1093	-	Melanoma(164;0.15)		340			C2H2-type 5.		B3KPM1|Q08AG3	Silent	SNP	ENST00000378061.2	37	c.1020C>T	CCDS34773.1																																																																																				0.662	ZNF425-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352726.1	XM_088140		9	38	0	0	0	0	9	38				
GIMAP6	474344	broad.mit.edu	37	7	150327212	150327212	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr7:150327212C>G	ENST00000328902.5	-	2	235	c.19G>C	c.(19-21)Gaa>Caa	p.E7Q	GIMAP6_ENST00000493969.1_Missense_Mutation_p.E7Q	NM_001244072.1|NM_024711.5	NP_001231001.1|NP_078987.3	Q6P9H5	GIMA6_HUMAN	GTPase, IMAP family member 6	7						cytosol (GO:0005829)	GTP binding (GO:0005525)			endometrium(4)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	29			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GGAATTTGTTCATATTCTTCT	0.428																																						uc003whn.2		NA																	0				upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3						c.(19-21)GAA>CAA		GTPase, IMAP family member 6							103.0	106.0	105.0					7																	150327212		2203	4300	6503	SO:0001583	missense	474344						GTP binding	g.chr7:150327212C>G	AK026343	CCDS34778.1, CCDS59087.1, CCDS75676.1	7q36.1	2014-04-04			ENSG00000133561	ENSG00000133561		"""GTPases, IMAP"""	21918	protein-coding gene	gene with protein product	"""immune-associated nucleotide-binding protein 6"""					15474311	Standard	NM_001244072		Approved	FLJ22690, IAN6	uc022apv.1	Q6P9H5	OTTHUMG00000159137	ENST00000328902.5:c.19G>C	7.37:g.150327212C>G	ENSP00000330374:p.Glu7Gln					GIMAP6_uc003whm.2_Missense_Mutation_p.M1I	p.E7Q	NM_024711	NP_078987	Q6P9H5	GIMA6_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	2	443	-			7					C9J7B6|D3DWZ4|Q5ZPR6|Q9H612	Missense_Mutation	SNP	ENST00000328902.5	37	c.19G>C	CCDS34778.1	.	.	.	.	.	.	.	.	.	.	c	3.758	-0.050172	0.07407	.	.	ENSG00000133561	ENST00000328902;ENST00000477013;ENST00000493969	T	0.07444	3.19	2.92	2.03	0.26663	.	.	.	.	.	T	0.09379	0.0231	L	0.34521	1.04	0.09310	N	1	D	0.58620	0.983	P	0.50314	0.637	T	0.25779	-1.0122	9	0.39692	T	0.17	.	5.7183	0.17972	0.0:0.8503:0.0:0.1497	.	7	Q6P9H5	GIMA6_HUMAN	Q	7	ENSP00000330374:E7Q	ENSP00000330374:E7Q	E	-	1	0	GIMAP6	149958145	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	-0.210000	0.09345	0.833000	0.34828	0.556000	0.70494	GAA		0.428	GIMAP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353457.1	NM_024711		3	89	0	0	0	0	3	89				
RNF32	140545	broad.mit.edu	37	7	156437207	156437207	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr7:156437207G>C	ENST00000405335.1	+	4	439	c.30G>C	c.(28-30)aaG>aaC	p.K10N	RNF32_ENST00000311822.8_Missense_Mutation_p.K10N|RNF32_ENST00000343665.4_Missense_Mutation_p.K10N|RNF32_ENST00000392741.2_Missense_Mutation_p.K10N|RNF32_ENST00000317955.5_Missense_Mutation_p.K10N|RNF32_ENST00000392740.1_Missense_Mutation_p.K10N|RNF32_ENST00000432459.2_Missense_Mutation_p.K10N|RNF32_ENST00000392743.2_Missense_Mutation_p.K10N			Q9H0A6	RNF32_HUMAN	ring finger protein 32	10						aggresome (GO:0016235)|endosome (GO:0005768)	zinc ion binding (GO:0008270)			cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(2)	15	Ovarian(565;0.218)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00291)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)		ACTCATCTAAGAAAGATAACT	0.333																																						uc003wmo.2		NA																	0					0						c.(28-30)AAG>AAC		ring finger protein 32							58.0	62.0	61.0					7																	156437207		2203	4300	6503	SO:0001583	missense	140545					aggresome|endosome	protein binding|zinc ion binding	g.chr7:156437207G>C		CCDS5944.1	7q36	2013-08-05			ENSG00000105982	ENSG00000105982		"""RING-type (C3HC4) zinc fingers"""	17118	protein-coding gene	gene with protein product		610241				11890671	Standard	NM_001184996		Approved	FKSG33, HSD15, LMBR2	uc003wmr.3	Q9H0A6	OTTHUMG00000151440	ENST00000405335.1:c.30G>C	7.37:g.156437207G>C	ENSP00000385285:p.Lys10Asn					RNF32_uc010lql.1_RNA|RNF32_uc010lqm.2_Missense_Mutation_p.K10N|RNF32_uc003wmp.2_Missense_Mutation_p.K10N|RNF32_uc003wmq.2_Missense_Mutation_p.K10N|RNF32_uc003wmr.2_Missense_Mutation_p.K10N|RNF32_uc003wms.2_Missense_Mutation_p.K10N|RNF32_uc003wmu.2_RNA|RNF32_uc003wmt.2_Missense_Mutation_p.K10N	p.K10N	NM_030936	NP_112198	Q9H0A6	RNF32_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00291)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)	3	212	+	Ovarian(565;0.218)	all_hematologic(28;0.0592)	10					Q6FIB3|Q6X7T4|Q8N6V8|Q8TDG0|Q96BM5|Q9Y6U1	Missense_Mutation	SNP	ENST00000405335.1	37	c.30G>C	CCDS5944.1	.	.	.	.	.	.	.	.	.	.	G	11.24	1.581227	0.28180	.	.	ENSG00000105982	ENST00000404282;ENST00000439609;ENST00000432459;ENST00000317955;ENST00000405335;ENST00000311822;ENST00000392743;ENST00000392741;ENST00000343665;ENST00000392740	T;T;T;T;T;T;T;T	0.49432	0.79;2.11;2.11;2.11;1.74;2.11;0.78;1.78	5.08	2.66	0.31614	.	0.707974	0.14463	N	0.318065	T	0.36496	0.0969	L	0.43152	1.355	0.28863	N	0.895409	B;B;B;B	0.17667	0.012;0.01;0.023;0.007	B;B;B;B	0.20955	0.022;0.015;0.032;0.01	T	0.30679	-0.9970	10	0.45353	T	0.12	-9.7017	5.1775	0.15143	0.6886:0.1519:0.1594:0.0	.	10;10;10;10	Q9H0A6-4;G5E940;Q9H0A6-2;Q9H0A6	.;.;.;RNF32_HUMAN	N	10	ENSP00000385815:K10N;ENSP00000405588:K10N;ENSP00000315950:K10N;ENSP00000385285:K10N;ENSP00000308894:K10N;ENSP00000376499:K10N;ENSP00000376497:K10N;ENSP00000341185:K10N	ENSP00000308894:K10N	K	+	3	2	RNF32	156129968	0.993000	0.37304	0.564000	0.28396	0.846000	0.48090	2.018000	0.40991	0.255000	0.21593	-0.469000	0.05056	AAG		0.333	RNF32-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322660.2	NM_030936		5	53	0	0	0	0	5	53				
CSMD1	64478	broad.mit.edu	37	8	2823375	2823375	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr8:2823375C>A	ENST00000520002.1	-	60	9760	c.9205G>T	c.(9205-9207)Gtc>Ttc	p.V3069F	CSMD1_ENST00000602557.1_Missense_Mutation_p.V3069F|CSMD1_ENST00000537824.1_Missense_Mutation_p.V3068F|CSMD1_ENST00000602723.1_Intron|CSMD1_ENST00000400186.3_Intron|CSMD1_ENST00000542608.1_Intron			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	3069	Sushi 24. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GCTTCCATGACATAGCCTGGG	0.493																																						uc011kwk.1		NA																	0				breast(20)|large_intestine(5)	25						c.(9205-9207)GTC>TTC		CUB and Sushi multiple domains 1 precursor							97.0	100.0	99.0					8																	2823375		2065	4211	6276	SO:0001583	missense	64478					integral to membrane		g.chr8:2823375C>A			8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.9205G>T	8.37:g.2823375C>A	ENSP00000430733:p.Val3069Phe					CSMD1_uc011kwj.1_Missense_Mutation_p.V2398F|CSMD1_uc010lrg.2_Intron	p.V3069F	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)	59	9595	-		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)	3069			Extracellular (Potential).|Sushi 24.		Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	ENST00000520002.1	37	c.9205G>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	0.018|0.018	-1.467408|-1.467408	0.01053|0.01053	.|.	.|.	ENSG00000183117|ENSG00000183117	ENST00000335551|ENST00000520002;ENST00000318252;ENST00000537824	.|T;T	.|0.66638	.|-0.22;-0.22	5.42|5.42	0.0468|0.0468	0.14278|0.14278	.|Complement control module (2);Sushi/SCR/CCP (3);	.|0.780779	.|0.11212	.|N	.|0.587593	T|T	0.66963|0.66963	0.2843|0.2843	L|L	0.54863|0.54863	1.705|1.705	0.09310|0.09310	N|N	0.999998|0.999998	.|B;B	.|0.22683	.|0.029;0.073	.|B;B	.|0.38655	.|0.11;0.278	T|T	0.62067|0.62067	-0.6932|-0.6932	5|10	.|0.33141	.|T	.|0.24	.|.	12.9099|12.9099	0.58175|0.58175	0.0:0.4963:0.2849:0.2188|0.0:0.4963:0.2849:0.2188	.|.	.|3069;3069	.|E5RIG2;Q96PZ7	.|.;CSMD1_HUMAN	F|F	2485|3069;2930;3068	.|ENSP00000430733:V3069F;ENSP00000441462:V3068F	.|ENSP00000320445:V2930F	C|V	-|-	2|1	0|0	CSMD1|CSMD1	2810782|2810782	0.003000|0.003000	0.15002|0.15002	0.001000|0.001000	0.08648|0.08648	0.006000|0.006000	0.05464|0.05464	-0.436000|-0.436000	0.06922|0.06922	-0.014000|-0.014000	0.14175|0.14175	-0.123000|-0.123000	0.14984|0.14984	TGT|GTC		0.493	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		9	6	1	0	2.18e-05	2.25e-05	9	6				
SOX7	83595	broad.mit.edu	37	8	10583925	10583925	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr8:10583925C>G	ENST00000304501.1	-	2	568	c.490G>C	c.(490-492)Gag>Cag	p.E164Q	CTD-2135J3.3_ENST00000506149.2_RNA|SOX7_ENST00000554914.1_Missense_Mutation_p.E216Q|SOX7_ENST00000553390.1_Missense_Mutation_p.E216Q	NM_031439.2	NP_113627.1	Q9BT81	SOX7_HUMAN	SRY (sex determining region Y)-box 7	164					endoderm formation (GO:0001706)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|regulation of canonical Wnt signaling pathway (GO:0060828)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20				COAD - Colon adenocarcinoma(149;0.0732)		GGGGAGTACTCACCCCTGTCC	0.726																																						uc003wtf.2		NA																	0				breast(1)	1						c.(490-492)GAG>CAG		SRY-box 7							16.0	17.0	17.0					8																	10583925		2203	4294	6497	SO:0001583	missense	83595				endoderm formation|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of caspase activity|regulation of canonical Wnt receptor signaling pathway	cytoplasm|nucleus	transcription regulatory region DNA binding	g.chr8:10583925C>G	AJ409320	CCDS5977.1	8p22	2013-01-25			ENSG00000171056	ENSG00000171056		"""SRY (sex determining region Y)-boxes"""	18196	protein-coding gene	gene with protein product		612202				11691915	Standard	NM_031439		Approved		uc003wtf.3	Q9BT81	OTTHUMG00000090585	ENST00000304501.1:c.490G>C	8.37:g.10583925C>G	ENSP00000301921:p.Glu164Gln					SOX7_uc011kwz.1_Missense_Mutation_p.E216Q|uc003wtg.1_5'Flank	p.E164Q	NM_031439	NP_113627	Q9BT81	SOX7_HUMAN		COAD - Colon adenocarcinoma(149;0.0732)	2	569	-			164					B4DKV0|Q53YD0	Missense_Mutation	SNP	ENST00000304501.1	37	c.490G>C	CCDS5977.1	.	.	.	.	.	.	.	.	.	.	C	15.67	2.903152	0.52333	.	.	ENSG00000171056;ENSG00000171056;ENSG00000258724	ENST00000304501;ENST00000553390;ENST00000554914	D;D;D	0.99418	-4.92;-5.87;-5.87	4.42	4.42	0.53409	.	0.121609	0.53938	D	0.000050	D	0.98588	0.9528	L	0.44542	1.39	0.33987	D	0.648729	D;B	0.63880	0.993;0.073	P;B	0.52957	0.714;0.046	D	0.99969	1.1957	10	0.12103	T	0.63	.	16.187	0.81960	0.0:1.0:0.0:0.0	.	216;164	B4DKV0;Q9BT81	.;SOX7_HUMAN	Q	164;216;216	ENSP00000301921:E164Q;ENSP00000452017:E216Q;ENSP00000451145:E216Q	ENSP00000346908:E216Q	E	-	1	0	SOX7;CTD-2135J3.4	10621335	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	2.350000	0.44063	2.274000	0.75844	0.561000	0.74099	GAG		0.726	SOX7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207131.1			8	15	0	0	0	0	8	15				
CSGALNACT1	55790	broad.mit.edu	37	8	19297418	19297418	+	Silent	SNP	C	C	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr8:19297418C>T	ENST00000454498.2	-	6	1889	c.876G>A	c.(874-876)ggG>ggA	p.G292G	CSGALNACT1_ENST00000332246.6_Silent_p.G292G|CSGALNACT1_ENST00000544602.1_Silent_p.G292G|CSGALNACT1_ENST00000518542.1_5'UTR|CSGALNACT1_ENST00000311540.4_Silent_p.G292G|CSGALNACT1_ENST00000522854.1_Silent_p.G292G	NM_001130518.1	NP_001123990.1	Q8TDX6	CGAT1_HUMAN	chondroitin sulfate N-acetylgalactosaminyltransferase 1	292					anatomical structure morphogenesis (GO:0009653)|carbohydrate metabolic process (GO:0005975)|cartilage development (GO:0051216)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|chondroitin sulfate proteoglycan biosynthetic process (GO:0050650)|chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0050653)|dermatan sulfate proteoglycan biosynthetic process (GO:0050651)|endochondral ossification (GO:0001958)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0015014)|heparin biosynthetic process (GO:0030210)|nervous system development (GO:0007399)|proteoglycan biosynthetic process (GO:0030166)|small molecule metabolic process (GO:0044281)|UDP-glucuronate metabolic process (GO:0046398)|UDP-N-acetylgalactosamine metabolic process (GO:0019276)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|intracellular (GO:0005622)	acetylgalactosaminyltransferase activity (GO:0008376)|glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047238)|glucuronosyltransferase activity (GO:0015020)|glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047237)|metal ion binding (GO:0046872)|peptidoglycan glycosyltransferase activity (GO:0008955)			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31				Colorectal(111;0.182)		GATGGACTCTCCCATCCTGCT	0.418																																						uc011kyn.1		NA																	0				central_nervous_system(2)|ovary(1)	3						c.(874-876)GGG>GGA		chondroitin sulfate							145.0	120.0	128.0					8																	19297418		2203	4300	6503	SO:0001819	synonymous_variant	55790				anatomical structure morphogenesis|cell proliferation|cell recognition|chondroitin sulfate biosynthetic process|chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process|extracellular matrix organization|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|heparin biosynthetic process|nervous system development|UDP-glucuronate metabolic process|UDP-N-acetylgalactosamine metabolic process	Golgi cisterna membrane|integral to Golgi membrane|soluble fraction	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|glucuronosyltransferase activity|glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|peptidoglycan glycosyltransferase activity	g.chr8:19297418C>T	AK002126	CCDS6010.1	8p21.3	2013-02-19				ENSG00000147408		"""Beta 4-glycosyltransferases"""	24290	protein-coding gene	gene with protein product	"""chondroitin beta1,4 N-acetylgalactosaminyltransferase"""					17145758, 12446672	Standard	NM_018371		Approved	CSGalNAcT-1, FLJ11264, ChGn	uc011kyo.2	Q8TDX6		ENST00000454498.2:c.876G>A	8.37:g.19297418C>T						CSGALNACT1_uc011kyo.1_Silent_p.G292G|CSGALNACT1_uc003wzg.2_RNA|CSGALNACT1_uc011kyp.1_Silent_p.G291G|CSGALNACT1_uc003wzh.2_RNA	p.G292G	NM_001130518	NP_001123990	Q8TDX6	CGAT1_HUMAN		Colorectal(111;0.182)	6	1940	-			292			Lumenal (Potential).		B2RBE4|Q6P9G6|Q8IUF9|Q9NSQ7|Q9NUM9	Silent	SNP	ENST00000454498.2	37	c.876G>A	CCDS6010.1																																																																																				0.418	CSGALNACT1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375204.1	NM_018371		17	36	0	0	0	0	17	36				
FAM160B2	64760	broad.mit.edu	37	8	21960135	21960135	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr8:21960135G>A	ENST00000289921.7	+	16	2135	c.2089G>A	c.(2089-2091)Gag>Aag	p.E697K		NM_022749.5	NP_073586.5	Q86V87	F16B2_HUMAN	family with sequence similarity 160, member B2	697										endometrium(2)|kidney(1)|lung(2)|prostate(3)|urinary_tract(1)	9						GGCTCCTGGGGAGCAGTGAGT	0.622																																						uc011kyx.1		NA																	0					0						c.(2089-2091)GAG>AAG		retinoic acid induced 16							18.0	21.0	20.0					8																	21960135		2002	4138	6140	SO:0001583	missense	64760							g.chr8:21960135G>A	AK025454	CCDS6021.2	8p21.3	2012-11-30	2008-06-05	2008-06-05	ENSG00000158863	ENSG00000158863			16492	protein-coding gene	gene with protein product			"""retinoic acid induced 16"""	RAI16		22971576, 15626329	Standard	XR_247128		Approved	FLJ21801	uc011kyx.2	Q86V87	OTTHUMG00000097088	ENST00000289921.7:c.2089G>A	8.37:g.21960135G>A	ENSP00000289921:p.Glu697Lys					FAM160B2_uc011kyy.1_RNA	p.E697K	NM_022749	NP_073586	Q86V87	F16B2_HUMAN			16	2140	+			697					B2RDQ5|B3KNX1|Q2M211|Q71JB5|Q7L3J6|Q969T0|Q9H6W4	Missense_Mutation	SNP	ENST00000289921.7	37	c.2089G>A	CCDS6021.2	.	.	.	.	.	.	.	.	.	.	G	12.78	2.039706	0.35989	.	.	ENSG00000158863	ENST00000289921;ENST00000356512	T	0.46819	0.86	4.98	4.98	0.66077	.	0.360627	0.30168	N	0.010259	T	0.39384	0.1076	L	0.49350	1.555	0.41573	D	0.98869	B	0.33345	0.409	B	0.27715	0.082	T	0.26538	-1.0100	10	0.13853	T	0.58	-23.9036	15.7616	0.78087	0.0:0.0:1.0:0.0	.	697	Q86V87	F16B2_HUMAN	K	697;115	ENSP00000289921:E697K	ENSP00000289921:E697K	E	+	1	0	FAM160B2	22016080	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	7.110000	0.77069	2.318000	0.78349	0.561000	0.74099	GAG		0.622	FAM160B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375334.2			5	4	0	0	0	0	5	4				
ADAM7	8756	broad.mit.edu	37	8	24356805	24356805	+	Silent	SNP	C	C	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr8:24356805C>T	ENST00000175238.6	+	17	1982	c.1899C>T	c.(1897-1899)tgC>tgT	p.C633C	ADAM7_ENST00000520720.1_Silent_p.C405C|RP11-624C23.1_ENST00000523578.1_RNA|RP11-561E1.1_ENST00000519364.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA|ADAM7_ENST00000380789.1_Silent_p.C633C	NM_003817.3	NP_003808.2	Q9H2U9	ADAM7_HUMAN	ADAM metallopeptidase domain 7	633	Cys-rich.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		CAACCAATTGCCCCTCTCAGT	0.348																																						uc003xeb.2		NA																	0				skin(3)|ovary(1)|kidney(1)	5						c.(1897-1899)TGC>TGT		a disintegrin and metalloproteinase domain 7							142.0	130.0	134.0					8																	24356805		2203	4300	6503	SO:0001819	synonymous_variant	8756				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding	g.chr8:24356805C>T	AF090327	CCDS6045.1	8p21.2	2005-08-18	2005-08-18		ENSG00000069206	ENSG00000069206		"""ADAM metallopeptidase domain containing"""	214	protein-coding gene	gene with protein product		607310	"""a disintegrin and metalloproteinase domain 7"""				Standard	NM_003817		Approved	GP-83, EAPI	uc003xeb.3	Q9H2U9	OTTHUMG00000097859	ENST00000175238.6:c.1899C>T	8.37:g.24356805C>T						ADAM7_uc003xec.2_Silent_p.C405C	p.C633C	NM_003817	NP_003808	Q9H2U9	ADAM7_HUMAN		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)	17	2012	+		Prostate(55;0.0181)	633			Extracellular (Potential).|Cys-rich.		A8K8X7|O75959|Q6PEJ6	Silent	SNP	ENST00000175238.6	37	c.1899C>T	CCDS6045.1																																																																																				0.348	ADAM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215150.1	NM_003817		3	46	0	0	0	0	3	46				
EBF2	64641	broad.mit.edu	37	8	25708194	25708194	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr8:25708194G>C	ENST00000520164.1	-	15	2149	c.1612C>G	c.(1612-1614)Cag>Gag	p.Q538E	EBF2_ENST00000408929.3_Missense_Mutation_p.Q390E|EBF2_ENST00000535548.1_3'UTR	NM_022659.3	NP_073150.2	Q9HAK2	COE2_HUMAN	early B-cell factor 2	538					adipose tissue development (GO:0060612)|brown fat cell differentiation (GO:0050873)|cell fate determination (GO:0001709)|positive regulation of chromatin binding (GO:0035563)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|kidney(2)|large_intestine(3)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738)		GCACTCTTCTGTTTGACAGCA	0.522																																					Esophageal Squamous(166;1018 1046 3854 8328 13429 13634 14071 26624 32918)	uc003xes.1		NA																	0				ovary(3)|skin(1)	4						c.(1612-1614)CAG>GAG		early B-cell factor 2							94.0	97.0	96.0					8																	25708194		1970	4153	6123	SO:0001583	missense	64641				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding	g.chr8:25708194G>C	AK021562, AK001144	CCDS43726.1	8p21.1	2007-07-26			ENSG00000221818	ENSG00000221818			19090	protein-coding gene	gene with protein product		609934				9151732	Standard	NM_022659		Approved	FLJ11500, COE2	uc003xes.2	Q9HAK2	OTTHUMG00000163838	ENST00000520164.1:c.1612C>G	8.37:g.25708194G>C	ENSP00000430241:p.Gln538Glu					PPP2R2A_uc003xek.2_Intron|EBF2_uc010lug.1_RNA	p.Q538E	NM_022659	NP_073150	Q9HAK2	COE2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738)	15	1629	-		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)	538					A0PJM4|A6NMF7|F5H645|Q66VZ3|Q6DK36|Q6IS86|Q6ISA4	Missense_Mutation	SNP	ENST00000520164.1	37	c.1612C>G	CCDS43726.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.967664	0.74131	.	.	ENSG00000221818	ENST00000520164;ENST00000408929	T;T	0.58358	0.34;0.34	5.45	5.45	0.79879	.	0.114408	0.64402	D	0.000008	T	0.58807	0.2148	M	0.67700	2.07	0.80722	D	1	P	0.37176	0.586	B	0.40165	0.321	T	0.62034	-0.6939	10	0.56958	D	0.05	-0.7415	19.661	0.95871	0.0:0.0:1.0:0.0	.	538	Q9HAK2	COE2_HUMAN	E	538;390	ENSP00000430241:Q538E;ENSP00000386178:Q390E	ENSP00000386178:Q390E	Q	-	1	0	EBF2	25764111	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.813000	0.99286	2.714000	0.92807	0.563000	0.77884	CAG		0.522	EBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375886.2	NM_022659		41	70	0	0	0	0	41	70				
UBXN8	7993	broad.mit.edu	37	8	30608921	30608921	+	RNA	SNP	G	G	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr8:30608921G>A	ENST00000519246.1	+	0	296							O00124	UBXN8_HUMAN	UBX domain protein 8						ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|single fertilization (GO:0007338)	integral component of endoplasmic reticulum membrane (GO:0030176)				central_nervous_system(1)|lung(2)	3						AGGAATCAAGGATTTTCTTTT	0.353																																					Colon(169;855 1943 17895 39459 47884)	uc003xii.2		NA																	0					0						c.(97-99)GAT>AAT		reproduction 8							91.0	76.0	80.0					8																	30608921		1803	4067	5870			7993				single fertilization			g.chr8:30608921G>A	D83767	CCDS75723.1, CCDS75724.1, CCDS75725.1	8p12-p11.2	2012-07-06	2008-07-25	2008-07-25		ENSG00000104691		"""UBX domain containing"""	30307	protein-coding gene	gene with protein product		602155	"""UBX domain containing 6"""	UBXD6		9027507, 21949850	Standard	NM_005671		Approved	D8S2298E, REP8	uc003xii.3	O00124			8.37:g.30608921G>A						UBXN8_uc010lvi.2_Intron|UBXN8_uc011lbb.1_RNA|UBXN8_uc003xij.2_RNA	p.D33N	NM_005671	NP_005662	O00124	UBXN8_HUMAN			2	114	+			33					Q7Z6F2	Missense_Mutation	SNP	ENST00000519246.1	37	c.97G>A																																																																																					0.353	UBXN8-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000375957.1	NM_005671		3	18	0	0	0	0	3	18				
TTI2	80185	broad.mit.edu	37	8	33369604	33369604	+	Silent	SNP	G	G	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr8:33369604G>A	ENST00000431156.2	-	2	1146	c.528C>T	c.(526-528)ctC>ctT	p.L176L	SNORD13_ENST00000459299.1_RNA|TTI2_ENST00000519356.1_5'Flank|TTI2_ENST00000360742.5_Silent_p.L176L|TTI2_ENST00000520636.1_Silent_p.L176L	NM_001102401.2	NP_001095871.1	Q6NXR4	TTI2_HUMAN	TELO2 interacting protein 2	176																	GCAGTGAGGTGAGCACCTCCC	0.493																																						uc003xjl.3		NA																	0					0						c.(526-528)CTC>CTT		hypothetical protein LOC80185							180.0	178.0	178.0					8																	33369604		2203	4300	6503	SO:0001819	synonymous_variant	80185						binding	g.chr8:33369604G>A	AK026916	CCDS6090.1	8p12	2011-11-10	2011-11-10	2011-09-22		ENSG00000129696			26262	protein-coding gene	gene with protein product		614426	"""chromosome 8 open reading frame 41"", ""Tel2 interacting protein 2 homolog (S. pombe)"""	C8orf41		20801936, 20810650	Standard	NM_025115		Approved	FLJ23263	uc003xjm.5	Q6NXR4		ENST00000431156.2:c.528C>T	8.37:g.33369604G>A						C8orf41_uc003xjk.3_Silent_p.L176L|C8orf41_uc010lvv.2_Silent_p.L176L|C8orf41_uc003xjm.3_Silent_p.L176L|C8orf41_uc003xjn.1_Silent_p.L176L	p.L176L	NM_025115	NP_079391	Q6NXR4	CH041_HUMAN		KIRC - Kidney renal clear cell carcinoma(67;0.0923)|Kidney(114;0.111)	1	1053	-			176					D3DSV7|Q96IM2|Q9H5N4	Silent	SNP	ENST00000431156.2	37	c.528C>T	CCDS6090.1																																																																																				0.493	TTI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376555.1	NM_025115		6	269	0	0	0	0	6	269				
PRKDC	5591	broad.mit.edu	37	8	48719860	48719860	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr8:48719860C>G	ENST00000314191.2	-	70	9638	c.9582G>C	c.(9580-9582)gaG>gaC	p.E3194D	PRKDC_ENST00000338368.3_Missense_Mutation_p.E3194D|PRKDC_ENST00000523565.1_5'UTR|Y_RNA_ENST00000384719.1_RNA	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	3195	FAT. {ECO:0000255|PROSITE- ProRule:PRU00534}.|KIP-binding.				B cell lineage commitment (GO:0002326)|brain development (GO:0007420)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|ectopic germ cell programmed cell death (GO:0035234)|heart development (GO:0007507)|immunoglobulin V(D)J recombination (GO:0033152)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of protein phosphorylation (GO:0001933)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|pro-B cell differentiation (GO:0002328)|protein destabilization (GO:0031648)|regulation of circadian rhythm (GO:0042752)|response to gamma radiation (GO:0010332)|rhythmic process (GO:0048511)|signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell receptor V(D)J recombination (GO:0033153)|telomere maintenance (GO:0000723)	cytosol (GO:0005829)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)			Caffeine(DB00201)	GGGTAAGCTTCTCCTCTATTT	0.423								Non-homologous end-joining																													Esophageal Squamous(79;1091 1253 12329 31680 40677)	uc003xqi.2		NA																	0				lung(12)|central_nervous_system(9)|ovary(6)|skin(4)|large_intestine(3)	34						c.(9583-9585)GAG>GAC	NHEJ	protein kinase, DNA-activated, catalytic							146.0	139.0	142.0					8																	48719860		1868	4116	5984	SO:0001583	missense	5591				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding	g.chr8:48719860C>G		CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1		7638222	Standard	NM_001081640		Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000314191.2:c.9582G>C	8.37:g.48719860C>G	ENSP00000313420:p.Glu3194Asp					PRKDC_uc003xqj.2_Missense_Mutation_p.E3195D|PRKDC_uc011ldh.1_Intron	p.E3195D	NM_006904	NP_008835	P78527	PRKDC_HUMAN			70	9642	-		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)	3195			KIP-binding.|FAT.		P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Missense_Mutation	SNP	ENST00000314191.2	37	c.9585G>C		.	.	.	.	.	.	.	.	.	.	C	14.16	2.451094	0.43531	.	.	ENSG00000253729	ENST00000314191;ENST00000338368	T;T	0.02682	4.27;4.2	5.88	2.13	0.27403	PIK-related kinase (1);PIK-related kinase, FAT (1);	0.330334	0.30492	N	0.009514	T	0.03739	0.0106	L	0.50333	1.59	0.31762	N	0.633239	B;B	0.14438	0.01;0.01	B;B	0.19666	0.026;0.026	T	0.05903	-1.0857	10	0.44086	T	0.13	.	9.9108	0.41403	0.0:0.7294:0.0:0.2706	.	3194;3195	E7EUY0;P78527	.;PRKDC_HUMAN	D	3194	ENSP00000313420:E3194D;ENSP00000345182:E3194D	ENSP00000313420:E3194D	E	-	3	2	PRKDC	48882413	0.998000	0.40836	0.979000	0.43373	0.877000	0.50540	0.937000	0.28951	0.397000	0.25310	0.655000	0.94253	GAG		0.423	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001081640		46	127	0	0	0	0	46	127				
PRKDC	5591	broad.mit.edu	37	8	48777319	48777319	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr8:48777319G>T	ENST00000314191.2	-	42	5422	c.5366C>A	c.(5365-5367)tCa>tAa	p.S1789*	PRKDC_ENST00000338368.3_Nonsense_Mutation_p.S1789*|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	1790					B cell lineage commitment (GO:0002326)|brain development (GO:0007420)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|ectopic germ cell programmed cell death (GO:0035234)|heart development (GO:0007507)|immunoglobulin V(D)J recombination (GO:0033152)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of protein phosphorylation (GO:0001933)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|pro-B cell differentiation (GO:0002328)|protein destabilization (GO:0031648)|regulation of circadian rhythm (GO:0042752)|response to gamma radiation (GO:0010332)|rhythmic process (GO:0048511)|signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell receptor V(D)J recombination (GO:0033153)|telomere maintenance (GO:0000723)	cytosol (GO:0005829)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)			Caffeine(DB00201)	TGTGACACATGAACCCCTAAG	0.443								Non-homologous end-joining																													Esophageal Squamous(79;1091 1253 12329 31680 40677)	uc003xqi.2		NA																	0				lung(12)|central_nervous_system(9)|ovary(6)|skin(4)|large_intestine(3)	34						c.(5368-5370)TCA>TAA	NHEJ	protein kinase, DNA-activated, catalytic							28.0	30.0	29.0					8																	48777319		1910	4106	6016	SO:0001587	stop_gained	5591				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding	g.chr8:48777319G>T		CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1		7638222	Standard	NM_001081640		Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000314191.2:c.5366C>A	8.37:g.48777319G>T	ENSP00000313420:p.Ser1789*					PRKDC_uc003xqj.2_Nonsense_Mutation_p.S1790*|PRKDC_uc011ldh.1_Intron	p.S1790*	NM_006904	NP_008835	P78527	PRKDC_HUMAN			42	5426	-		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)	1790					P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Nonsense_Mutation	SNP	ENST00000314191.2	37	c.5369C>A		.	.	.	.	.	.	.	.	.	.	G	43	10.112947	0.99339	.	.	ENSG00000253729	ENST00000314191;ENST00000338368	.	.	.	5.78	3.95	0.45737	.	0.792278	0.11416	N	0.566263	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.5195	0.44910	0.0855:0.2727:0.6418:0.0	.	.	.	.	X	1789	.	ENSP00000313420:S1789X	S	-	2	0	PRKDC	48939872	0.906000	0.30813	0.347000	0.25668	0.092000	0.18411	1.886000	0.39688	1.452000	0.47756	0.591000	0.81541	TCA		0.443	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001081640		3	14	1	0	6.4e-05	6.59e-05	3	14				
MCM4	4173	broad.mit.edu	37	8	48883280	48883280	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr8:48883280G>A	ENST00000262105.2	+	11	1853	c.1644G>A	c.(1642-1644)atG>atA	p.M548I	MCM4_ENST00000523944.1_Missense_Mutation_p.M548I|MCM4_ENST00000518680.1_3'UTR	NM_005914.3	NP_005905.2	P33991	MCM4_HUMAN	minichromosome maintenance complex component 4	548	MCM.				DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA unwinding involved in DNA replication (GO:0006268)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	MCM complex (GO:0042555)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA helicase activity (GO:0003678)|single-stranded DNA binding (GO:0003697)			biliary_tract(1)|breast(1)|endometrium(7)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	44		all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00327)|all_lung(136;0.00354)				CGTACGTAATGAAAGACCCTG	0.552																																						uc003xqk.1		NA																	0				ovary(2)|skin(2)	4						c.(1642-1644)ATG>ATA		minichromosome maintenance complex component 4							113.0	85.0	94.0					8																	48883280		2203	4300	6503	SO:0001583	missense	4173				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|DNA binding|helicase activity|protein binding	g.chr8:48883280G>A		CCDS6143.1	8q12-q13	2008-02-05	2007-04-04		ENSG00000104738	ENSG00000104738			6947	protein-coding gene	gene with protein product		602638	"""MCM4 minichromosome maintenance deficient 4 (S. cerevisiae)"""	CDC21		7601140	Standard	NM_005914		Approved	CDC54, hCdc21, P1-Cdc21, MGC33310	uc003xql.2	P33991	OTTHUMG00000164205	ENST00000262105.2:c.1644G>A	8.37:g.48883280G>A	ENSP00000262105:p.Met548Ile					MCM4_uc003xql.1_Missense_Mutation_p.M548I|MCM4_uc011ldi.1_Missense_Mutation_p.M535I	p.M548I	NM_182746	NP_877423	P33991	MCM4_HUMAN			12	1739	+		all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00327)|all_lung(136;0.00354)	548			MCM.		Q8NEH1|Q99658	Missense_Mutation	SNP	ENST00000262105.2	37	c.1644G>A	CCDS6143.1	.	.	.	.	.	.	.	.	.	.	G	16.96	3.267188	0.59540	.	.	ENSG00000104738	ENST00000523944;ENST00000262105;ENST00000396826;ENST00000429229;ENST00000520637	T;T;T	0.10382	2.88;2.88;2.88	6.17	5.29	0.74685	ATPase, AAA+ type, core (1);	0.177345	0.64402	D	0.000001	T	0.07413	0.0187	N	0.05330	-0.07	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.12156	0.007;0.007	T	0.29366	-1.0014	10	0.59425	D	0.04	-29.3611	15.9972	0.80260	0.065:0.0:0.935:0.0	.	548;548	B3KMX0;P33991	.;MCM4_HUMAN	I	548;548;535;508;266	ENSP00000430194:M548I;ENSP00000262105:M548I;ENSP00000427875:M266I	ENSP00000262105:M548I	M	+	3	0	MCM4	49045833	1.000000	0.71417	1.000000	0.80357	0.838000	0.47535	3.972000	0.56838	2.941000	0.99782	0.655000	0.94253	ATG		0.552	MCM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377791.1	NM_005914		14	41	0	0	0	0	14	41				
PXDNL	137902	broad.mit.edu	37	8	52284541	52284541	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr8:52284541G>A	ENST00000356297.4	-	19	3893	c.3793C>T	c.(3793-3795)Cag>Tag	p.Q1265*	PXDNL_ENST00000543296.1_Nonsense_Mutation_p.Q1265*	NM_144651.4	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	1265					hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	endonuclease activity (GO:0004519)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				TGCACTTGCTGAATGCTGTCA	0.532																																						uc003xqu.3		NA																	0				ovary(1)|pancreas(1)	2						c.(3793-3795)CAG>TAG		peroxidasin homolog-like precursor							70.0	69.0	69.0					8																	52284541		2017	4181	6198	SO:0001587	stop_gained	137902				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity	g.chr8:52284541G>A		CCDS47855.1	8q11.21-q11.22	2013-02-18	2007-01-12		ENSG00000147485	ENSG00000147485		"""Immunoglobulin superfamily / I-set domain containing"""	26359	protein-coding gene	gene with protein product	"""polysomal ribonuclease 1 homolog (Xenopus)"""	615904	"""peroxidasin homolog-like (Drosophila)"""			22543864	Standard	NM_144651		Approved	FLJ25471, PMR1	uc003xqu.4	A1KZ92	OTTHUMG00000164244	ENST00000356297.4:c.3793C>T	8.37:g.52284541G>A	ENSP00000348645:p.Gln1265*					PXDNL_uc003xqt.3_RNA	p.Q1265*	NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN			19	3894	-		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)	1265					B5ME43|B6CGZ3|H0YBM9|Q6ZMR2|Q96LH9	Nonsense_Mutation	SNP	ENST00000356297.4	37	c.3793C>T	CCDS47855.1	.	.	.	.	.	.	.	.	.	.	G	40	8.235268	0.98719	.	.	ENSG00000147485	ENST00000356297;ENST00000543296	.	.	.	4.9	-0.332	0.12675	.	0.159595	0.29218	N	0.012793	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	.	3.8896	0.09113	0.2496:0.0:0.4667:0.2837	.	.	.	.	X	1265	.	ENSP00000348645:Q1265X	Q	-	1	0	PXDNL	52447094	1.000000	0.71417	0.000000	0.03702	0.466000	0.32739	2.088000	0.41663	-0.412000	0.07519	0.491000	0.48974	CAG		0.532	PXDNL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377905.1	NM_144651		5	26	0	0	0	0	5	26				
MYBL1	4603	broad.mit.edu	37	8	67504755	67504755	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr8:67504755C>T	ENST00000522677.3	-	8	1197	c.787G>A	c.(787-789)Gat>Aat	p.D263N	MYBL1_ENST00000517885.1_Intron|MYBL1_ENST00000524176.2_Missense_Mutation_p.D263N	NM_001080416.2|NM_001144755.1	NP_001073885.1|NP_001138227.1	P10243	MYBA_HUMAN	v-myb avian myeloblastosis viral oncogene homolog-like 1	263	Transcriptional activation domain. {ECO:0000250}.				positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|skin(1)	25			Epithelial(68;0.00211)|all cancers(69;0.00726)|OV - Ovarian serous cystadenocarcinoma(28;0.00989)|BRCA - Breast invasive adenocarcinoma(89;0.0938)			TTTTCCTTATCAGGATCTTCA	0.284																																						uc003xwj.2		NA																	0				ovary(2)|pancreas(1)	3						c.(787-789)GAT>AAT		v-myb myeloblastosis viral oncogene homolog							68.0	64.0	65.0					8																	67504755		1796	4054	5850	SO:0001583	missense	4603				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr8:67504755C>T	X13294	CCDS47867.1, CCDS55241.1	8q22	2013-07-09	2013-07-09		ENSG00000185697	ENSG00000185697			7547	protein-coding gene	gene with protein product		159405					Standard	XM_005251251		Approved	AMYB, A-myb	uc003xwj.3	P10243	OTTHUMG00000164559	ENST00000522677.3:c.787G>A	8.37:g.67504755C>T	ENSP00000429633:p.Asp263Asn					MYBL1_uc003xwl.2_Missense_Mutation_p.D263N|MYBL1_uc003xwk.2_Missense_Mutation_p.D263N	p.D263N	NM_001080416	NP_001073885	P10243	MYBA_HUMAN	Epithelial(68;0.00211)|all cancers(69;0.00726)|OV - Ovarian serous cystadenocarcinoma(28;0.00989)|BRCA - Breast invasive adenocarcinoma(89;0.0938)		8	1194	-			263			Transcriptional activation domain (By similarity).		E7EW29|Q495F9	Missense_Mutation	SNP	ENST00000522677.3	37	c.787G>A	CCDS47867.1	.	.	.	.	.	.	.	.	.	.	C	29.8	5.039505	0.93630	.	.	ENSG00000185697	ENST00000522677;ENST00000524176	T;T	0.18016	2.72;2.24	5.85	5.85	0.93711	Transcription regulator Wos2-domain (1);	0.146399	0.64402	D	0.000013	T	0.41143	0.1146	M	0.62723	1.935	0.58432	D	0.999999	D;D;D	0.71674	0.993;0.997;0.998	P;D;D	0.77004	0.886;0.989;0.941	T	0.01492	-1.1341	10	0.26408	T	0.33	-13.9609	20.1588	0.98128	0.0:1.0:0.0:0.0	.	263;263;263	Q495F9;Q495G0;P10243	.;.;MYBA_HUMAN	N	263	ENSP00000429633:D263N;ENSP00000428011:D263N	ENSP00000429633:D263N	D	-	1	0	MYBL1	67667309	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.825000	0.69286	2.770000	0.95276	0.563000	0.77884	GAT		0.284	MYBL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379221.3	XM_034274		6	89	0	0	0	0	6	89				
ARFGEF1	10565	broad.mit.edu	37	8	68150972	68150972	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr8:68150972C>T	ENST00000262215.3	-	21	3525	c.3136G>A	c.(3136-3138)Gag>Aag	p.E1046K	ARFGEF1_ENST00000520381.1_Missense_Mutation_p.E500K|ARFGEF1_ENST00000518230.1_5'Flank	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	1046					endomembrane system organization (GO:0010256)|exocytosis (GO:0006887)|Golgi organization (GO:0007030)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of Rho GTPase activity (GO:0034259)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein glycosylation in Golgi (GO:0090284)|positive regulation of wound healing (GO:0090303)|protein transport (GO:0015031)|regulation of ARF protein signal transduction (GO:0032012)|regulation of establishment of cell polarity (GO:2000114)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|small nuclear ribonucleoprotein complex (GO:0030532)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|guanyl-nucleotide exchange factor activity (GO:0005085)|myosin binding (GO:0017022)|protein kinase A regulatory subunit binding (GO:0034237)			breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			GCTTATACCTCATGCCATGAA	0.323																																						uc003xxo.1		NA																	0				ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|lung(1)|kidney(1)	8						c.(3136-3138)GAG>AAG		brefeldin A-inhibited guanine							149.0	136.0	140.0					8																	68150972		2203	4299	6502	SO:0001583	missense	10565				exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding	g.chr8:68150972C>T	AF084520	CCDS6199.1	8q13	2011-08-18	2011-08-18		ENSG00000066777	ENSG00000066777			15772	protein-coding gene	gene with protein product		604141				10212200, 8917509	Standard	NM_006421		Approved	DKFZP434L057, BIG1, ARFGEP1, p200	uc003xxo.2	Q9Y6D6	OTTHUMG00000164626	ENST00000262215.3:c.3136G>A	8.37:g.68150972C>T	ENSP00000262215:p.Glu1046Lys					ARFGEF1_uc003xxl.1_Missense_Mutation_p.E500K|ARFGEF1_uc003xxn.1_Missense_Mutation_p.E29K	p.E1046K	NM_006421	NP_006412	Q9Y6D6	BIG1_HUMAN	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)		21	3526	-	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	1046					Q9NV46|Q9UFV2|Q9UNL0	Missense_Mutation	SNP	ENST00000262215.3	37	c.3136G>A	CCDS6199.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.232132	0.79688	.	.	ENSG00000066777	ENST00000520381;ENST00000262215	T;T	0.53640	0.61;0.61	5.32	5.32	0.75619	Armadillo-type fold (1);	0.049892	0.85682	D	0.000000	T	0.59662	0.2210	M	0.72894	2.215	0.80722	D	1	B;P;P	0.51791	0.001;0.864;0.948	B;P;P	0.48982	0.011;0.597;0.597	T	0.65224	-0.6220	10	0.72032	D	0.01	.	19.3677	0.94471	0.0:1.0:0.0:0.0	.	1046;524;500	Q9Y6D6;Q59FY5;E5RIF2	BIG1_HUMAN;.;.	K	500;1046	ENSP00000428429:E500K;ENSP00000262215:E1046K	ENSP00000262215:E1046K	E	-	1	0	ARFGEF1	68313526	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.766000	0.85320	2.628000	0.89032	0.650000	0.86243	GAG		0.323	ARFGEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379441.4	NM_006421		24	76	0	0	0	0	24	76				
ARFGEF1	10565	broad.mit.edu	37	8	68165736	68165736	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr8:68165736G>A	ENST00000262215.3	-	18	3037	c.2648C>T	c.(2647-2649)tCa>tTa	p.S883L	ARFGEF1_ENST00000520381.1_Missense_Mutation_p.S337L	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	883					endomembrane system organization (GO:0010256)|exocytosis (GO:0006887)|Golgi organization (GO:0007030)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of Rho GTPase activity (GO:0034259)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein glycosylation in Golgi (GO:0090284)|positive regulation of wound healing (GO:0090303)|protein transport (GO:0015031)|regulation of ARF protein signal transduction (GO:0032012)|regulation of establishment of cell polarity (GO:2000114)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|small nuclear ribonucleoprotein complex (GO:0030532)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|guanyl-nucleotide exchange factor activity (GO:0005085)|myosin binding (GO:0017022)|protein kinase A regulatory subunit binding (GO:0034237)			breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			TTCTTTCATTGATATCTTTTT	0.308																																						uc003xxo.1		NA																	0				ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|lung(1)|kidney(1)	8						c.(2647-2649)TCA>TTA		brefeldin A-inhibited guanine							169.0	156.0	160.0					8																	68165736		2199	4299	6498	SO:0001583	missense	10565				exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding	g.chr8:68165736G>A	AF084520	CCDS6199.1	8q13	2011-08-18	2011-08-18		ENSG00000066777	ENSG00000066777			15772	protein-coding gene	gene with protein product		604141				10212200, 8917509	Standard	NM_006421		Approved	DKFZP434L057, BIG1, ARFGEP1, p200	uc003xxo.2	Q9Y6D6	OTTHUMG00000164626	ENST00000262215.3:c.2648C>T	8.37:g.68165736G>A	ENSP00000262215:p.Ser883Leu					ARFGEF1_uc003xxl.1_Missense_Mutation_p.S337L	p.S883L	NM_006421	NP_006412	Q9Y6D6	BIG1_HUMAN	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)		18	3038	-	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	883					Q9NV46|Q9UFV2|Q9UNL0	Missense_Mutation	SNP	ENST00000262215.3	37	c.2648C>T	CCDS6199.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.150105	0.78001	.	.	ENSG00000066777	ENST00000520381;ENST00000262215	T;T	0.51071	0.72;0.72	5.87	5.87	0.94306	SEC7-like, alpha orthogonal bundle (1);SEC7-like (1);Armadillo-type fold (1);	0.063133	0.64402	D	0.000004	T	0.41994	0.1183	L	0.34521	1.04	0.80722	D	1	B;B	0.32717	0.381;0.195	B;B	0.30716	0.119;0.077	T	0.24119	-1.0169	10	0.45353	T	0.12	.	20.2011	0.98259	0.0:0.0:1.0:0.0	.	883;337	Q9Y6D6;E5RIF2	BIG1_HUMAN;.	L	337;883	ENSP00000428429:S337L;ENSP00000262215:S883L	ENSP00000262215:S883L	S	-	2	0	ARFGEF1	68328290	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.850000	0.99511	2.785000	0.95823	0.585000	0.79938	TCA		0.308	ARFGEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379441.4	NM_006421		6	62	0	0	0	0	6	62				
TERF1	7013	broad.mit.edu	37	8	73942628	73942628	+	Silent	SNP	G	G	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr8:73942628G>A	ENST00000276603.5	+	7	968	c.945G>A	c.(943-945)ttG>ttA	p.L315L	TERF1_ENST00000276602.6_Intron	NM_017489.2	NP_059523.2	P54274	TERF1_HUMAN	telomeric repeat binding factor (NIMA-interacting) 1	315	Interaction with RLIM.				age-dependent telomere shortening (GO:0001309)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of DNA replication (GO:0008156)|negative regulation of telomerase activity (GO:0051974)|negative regulation of telomere maintenance via semi-conservative replication (GO:0032214)|negative regulation of telomere maintenance via telomerase (GO:0032211)|positive regulation of apoptotic process (GO:0043065)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of mitosis (GO:0045840)|positive regulation of mitotic cell cycle (GO:0045931)|protein homooligomerization (GO:0051260)|response to drug (GO:0042493)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)|telomere maintenance via telomere shortening (GO:0010834)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nuclear telomere cap complex (GO:0000783)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|double-stranded telomeric DNA binding (GO:0003691)|microtubule binding (GO:0008017)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|telomeric DNA binding (GO:0042162)			central_nervous_system(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	9	Breast(64;0.218)		Epithelial(68;0.0984)			TATCCTTATTGAGGTGAAGTA	0.318																																						uc003xzd.2		NA																	0				ovary(1)|lung(1)|skin(1)	3						c.(943-945)TTG>TTA		telomeric repeat binding factor 1 isoform 1							131.0	118.0	123.0					8																	73942628		2203	4299	6502	SO:0001819	synonymous_variant	7013				age-dependent telomere shortening|cell division|G2/M transition of mitotic cell cycle|induction of apoptosis|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of telomere maintenance via semi-conservative replication|negative regulation of telomere maintenance via telomerase|positive regulation of microtubule polymerization|positive regulation of mitosis|positive regulation of mitotic cell cycle|protein homooligomerization|regulation of transcription, DNA-dependent|telomere maintenance via telomerase|telomere maintenance via telomerase|telomere maintenance via telomere shortening	chromosome, telomeric region|cytoplasm|nuclear telomere cap complex|nucleoplasm|nucleus|spindle	caspase activator activity|DNA bending activity|double-stranded telomeric DNA binding|identical protein binding|microtubule binding|protein heterodimerization activity|protein homodimerization activity|telomerase inhibitor activity|telomeric DNA binding	g.chr8:73942628G>A	U74382	CCDS6210.1, CCDS6211.1	8q21.11	2011-05-24			ENSG00000147601	ENSG00000147601			11728	protein-coding gene	gene with protein product		600951		TRBF1		9391075	Standard	NM_003218		Approved	PIN2, TRF1, TRF	uc003xzd.2	P54274	OTTHUMG00000164522	ENST00000276603.5:c.945G>A	8.37:g.73942628G>A						TERF1_uc003xze.2_Intron	p.L315L	NM_017489	NP_059523	P54274	TERF1_HUMAN	Epithelial(68;0.0984)		7	970	+	Breast(64;0.218)		315			Interaction with RLIM.		A7XP29|Q15553|Q8NHT6|Q93029	Silent	SNP	ENST00000276603.5	37	c.945G>A	CCDS6211.1																																																																																				0.318	TERF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379093.1	NM_017489		6	28	0	0	0	0	6	28				
TCEB1	6921	broad.mit.edu	37	8	74859029	74859029	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr8:74859029C>T	ENST00000522337.1	-	5	494	c.175G>A	c.(175-177)Gag>Aag	p.E59K	TCEB1_ENST00000520242.1_Missense_Mutation_p.E59K|TCEB1_ENST00000518127.1_Missense_Mutation_p.E59K|TCEB1_ENST00000284811.8_Missense_Mutation_p.E59K|TCEB1_ENST00000602840.1_Intron|TCEB1_ENST00000523815.1_Missense_Mutation_p.E59K|TCEB1_ENST00000520210.1_Missense_Mutation_p.E43K|TCEB1_ENST00000519487.1_Missense_Mutation_p.E59K			Q15369	ELOC_HUMAN	transcription elongation factor B (SIII), polypeptide 1 (15kDa, elongin C)	59					cellular response to hypoxia (GO:0071456)|gene expression (GO:0010467)|positive regulation of viral transcription (GO:0050434)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)				endometrium(2)|kidney(3)|lung(1)|prostate(1)	7	Breast(64;0.0311)		Epithelial(68;0.0136)|all cancers(69;0.0431)|BRCA - Breast invasive adenocarcinoma(89;0.0499)			AAATTGACCTCATTGGTTTCG	0.383																																						uc003xzx.1		NA																	0					0						c.(175-177)GAG>AAG		elongin C							80.0	68.0	72.0					8																	74859029		2203	4300	6503	SO:0001583	missense	6921				interspecies interaction between organisms|positive regulation of viral transcription|regulation of transcription from RNA polymerase II promoter|transcription elongation from RNA polymerase II promoter|ubiquitin-dependent protein catabolic process|viral reproduction	cytosol|nucleoplasm	protein binding	g.chr8:74859029C>T	L34587	CCDS34910.1, CCDS56539.1	8q13.3	2010-04-21	2002-08-29		ENSG00000154582	ENSG00000154582			11617	protein-coding gene	gene with protein product		600788	"""transcription elongation factor B (SIII), polypeptide 1 (15kD, elongin C)"""			7821821, 7660122	Standard	NM_005648		Approved	SIII	uc003xzx.2	Q15369	OTTHUMG00000164501	ENST00000522337.1:c.175G>A	8.37:g.74859029C>T	ENSP00000429906:p.Glu59Lys					TCEB1_uc003xzy.1_Missense_Mutation_p.E59K|TCEB1_uc003xzz.1_Missense_Mutation_p.E43K|TCEB1_uc003yaa.1_Missense_Mutation_p.E59K	p.E59K	NM_005648	NP_005639	Q15369	ELOC_HUMAN	Epithelial(68;0.0136)|all cancers(69;0.0431)|BRCA - Breast invasive adenocarcinoma(89;0.0499)		4	260	-	Breast(64;0.0311)		59					E5RGD9|Q567Q6	Missense_Mutation	SNP	ENST00000522337.1	37	c.175G>A	CCDS34910.1	.	.	.	.	.	.	.	.	.	.	C	18.16	3.561975	0.65538	.	.	ENSG00000154582	ENST00000518127;ENST00000520210;ENST00000520242;ENST00000519487;ENST00000284811;ENST00000522337;ENST00000523815;ENST00000519082	T;T;T;T;T;T;T;T	0.42900	0.96;0.96;0.96;0.96;0.96;0.96;0.96;0.96	5.14	5.14	0.70334	BTB/POZ fold (2);SKP1 component, POZ (1);	0.000000	0.50627	D	0.000114	T	0.47488	0.1448	M	0.66378	2.025	0.80722	D	1	B	0.09022	0.002	B	0.25506	0.061	T	0.41662	-0.9496	10	0.41790	T	0.15	-3.3905	18.7873	0.91960	0.0:1.0:0.0:0.0	.	59	Q15369	ELOC_HUMAN	K	59;43;59;59;59;59;59;59	ENSP00000428334:E59K;ENSP00000430224:E43K;ENSP00000428171:E59K;ENSP00000429596:E59K;ENSP00000284811:E59K;ENSP00000429906:E59K;ENSP00000428074:E59K;ENSP00000429789:E59K	ENSP00000284811:E59K	E	-	1	0	TCEB1	75021583	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.973000	0.76116	2.669000	0.90835	0.591000	0.81541	GAG		0.383	TCEB1-010	NOVEL	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000379020.1	NM_005648		18	55	0	0	0	0	18	55				
JPH1	56704	broad.mit.edu	37	8	75227373	75227373	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr8:75227373C>T	ENST00000342232.4	-	2	902	c.862G>A	c.(862-864)Gac>Aac	p.D288N		NM_020647.2	NP_065698.1	Q9HDC5	JPH1_HUMAN	junctophilin 1	288					calcium ion transport into cytosol (GO:0060402)|muscle organ development (GO:0007517)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	24	Breast(64;0.00576)		BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176)			TTGCGCTTGTCGTTCTTCCAC	0.542																																						uc003yae.2		NA																	0				ovary(1)	1						c.(862-864)GAC>AAC		junctophilin 1							146.0	138.0	140.0					8																	75227373		2203	4300	6503	SO:0001583	missense	56704				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional membrane complex|junctional sarcoplasmic reticulum membrane|plasma membrane		g.chr8:75227373C>T	AB042634	CCDS6217.1	8q21	2008-07-03			ENSG00000104369	ENSG00000104369			14201	protein-coding gene	gene with protein product		605266				10891348, 10949023	Standard	XM_005251273		Approved	JP-1	uc003yae.3	Q9HDC5	OTTHUMG00000164524	ENST00000342232.4:c.862G>A	8.37:g.75227373C>T	ENSP00000344488:p.Asp288Asn					JPH1_uc003yaf.2_Missense_Mutation_p.D288N|JPH1_uc003yag.1_Missense_Mutation_p.D152N	p.D288N	NM_020647	NP_065698	Q9HDC5	JPH1_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176)		2	902	-	Breast(64;0.00576)		288			Cytoplasmic (Potential).|MORN 6.		B2RTZ0	Missense_Mutation	SNP	ENST00000342232.4	37	c.862G>A	CCDS6217.1	.	.	.	.	.	.	.	.	.	.	C	34	5.304244	0.95601	.	.	ENSG00000104369	ENST00000342232	T	0.54479	0.57	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	T	0.61413	0.2345	N	0.21097	0.63	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.62234	-0.6897	10	0.44086	T	0.13	.	18.8382	0.92171	0.0:1.0:0.0:0.0	.	288	Q9HDC5	JPH1_HUMAN	N	288	ENSP00000344488:D288N	ENSP00000344488:D288N	D	-	1	0	JPH1	75389928	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.597000	0.82733	2.669000	0.90835	0.655000	0.94253	GAC		0.542	JPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379102.1			50	122	0	0	0	0	50	122				
ZFHX4	79776	broad.mit.edu	37	8	77617904	77617904	+	Silent	SNP	G	G	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr8:77617904G>A	ENST00000521891.2	+	2	2029	c.1581G>A	c.(1579-1581)gcG>gcA	p.A527A	ZFHX4_ENST00000050961.6_Silent_p.A527A|ZFHX4_ENST00000455469.2_Silent_p.A527A|ZFHX4_ENST00000518282.1_Silent_p.A527A|ZFHX4_ENST00000517683.1_Intron	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	527					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CCTCCTCGGCGACTGTTTCTG	0.433										HNSCC(33;0.089)																												uc003yav.2		NA																	0				ovary(8)|large_intestine(4)|breast(2)|lung(1)	15						c.(1579-1581)GCG>GCA		zinc finger homeodomain 4							40.0	40.0	40.0					8																	77617904		1963	4156	6119	SO:0001819	synonymous_variant	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77617904G>A		CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.1581G>A	8.37:g.77617904G>A		HNSCC(33;0.089)				ZFHX4_uc003yat.1_Silent_p.A527A|ZFHX4_uc003yau.1_Silent_p.A527A|ZFHX4_uc003yaw.1_Silent_p.A527A	p.A527A	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		2	1968	+			527					G3V138|Q18PS0|Q6ZN20	Silent	SNP	ENST00000521891.2	37	c.1581G>A	CCDS47878.2																																																																																				0.433	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		14	57	0	0	0	0	14	57				
TPD52	7163	broad.mit.edu	37	8	80976724	80976724	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr8:80976724C>G	ENST00000379097.3	-	2	606	c.244G>C	c.(244-246)Gaa>Caa	p.E82Q	TPD52_ENST00000517427.1_Missense_Mutation_p.E82Q|TPD52_ENST00000537855.1_Missense_Mutation_p.E82Q|TPD52_ENST00000379096.5_Missense_Mutation_p.E42Q|TPD52_ENST00000518937.1_Missense_Mutation_p.E42Q|TPD52_ENST00000519303.2_5'UTR|TPD52_ENST00000448733.2_Missense_Mutation_p.E82Q|TPD52_ENST00000520527.1_Missense_Mutation_p.E82Q	NM_001025252.1	NP_001020423.1	P55327	TPD52_HUMAN	tumor protein D52	82					anatomical structure morphogenesis (GO:0009653)|B cell differentiation (GO:0030183)|positive regulation of cell proliferation (GO:0008284)|secretion (GO:0046903)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	8	all_epithelial(4;1.13e-09)|Lung NSC(7;9.71e-07)|all_lung(9;3.75e-06)	Lung NSC(129;3.55e-06)|all_lung(136;1.53e-05)|Acute lymphoblastic leukemia(644;0.158)	BRCA - Breast invasive adenocarcinoma(6;0.00181)|Epithelial(68;0.0149)|all cancers(69;0.0612)			TTTGCAAGTTCTCTTCTTAGC	0.428																																						uc003ybr.1		NA																	0				ovary(1)	1						c.(244-246)GAA>CAA		tumor protein D52 isoform 1							167.0	151.0	156.0					8																	80976724		2203	4300	6503	SO:0001583	missense	7163				anatomical structure morphogenesis|B cell differentiation|secretion	endoplasmic reticulum|perinuclear region of cytoplasm	calcium ion binding|protein heterodimerization activity|protein homodimerization activity	g.chr8:80976724C>G	U18914	CCDS34912.1, CCDS47879.1, CCDS55249.1, CCDS75757.1, CCDS75758.1, CCDS75759.1	8q21.13	2014-06-24			ENSG00000076554	ENSG00000076554			12005	protein-coding gene	gene with protein product		604068				7796418	Standard	NM_001287144		Approved	D52, hD52, N8L	uc003ybr.1	P55327	OTTHUMG00000164565	ENST00000379097.3:c.244G>C	8.37:g.80976724C>G	ENSP00000368391:p.Glu82Gln					TPD52_uc010lzr.2_RNA|TPD52_uc010lzs.1_RNA|TPD52_uc003ybs.1_Missense_Mutation_p.E42Q|TPD52_uc003ybt.1_Missense_Mutation_p.E42Q|TPD52_uc003ybq.1_RNA|TPD52_uc003ybu.1_RNA	p.E82Q	NM_001025252	NP_001020423	P55327	TPD52_HUMAN	BRCA - Breast invasive adenocarcinoma(6;0.00181)|Epithelial(68;0.0149)|all cancers(69;0.0612)		2	566	-	all_epithelial(4;1.13e-09)|Lung NSC(7;9.71e-07)|all_lung(9;3.75e-06)	Lung NSC(129;3.55e-06)|all_lung(136;1.53e-05)|Acute lymphoblastic leukemia(644;0.158)	82			Potential.		B7Z414|C9J502|D0UFD1|D0UFD2|D0UFD3|D0UFD4|D0UFD5|E5RKB4|Q13056|Q53EK8|Q6FGP3|Q6FGS3|Q86YZ2|Q9UCX8	Missense_Mutation	SNP	ENST00000379097.3	37	c.244G>C	CCDS34912.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.1|21.1	4.103755|4.103755	0.76983|0.76983	.|.	.|.	ENSG00000076554|ENSG00000076554	ENST00000520795|ENST00000537855;ENST00000379096;ENST00000518937;ENST00000520527;ENST00000517427;ENST00000448733;ENST00000543691;ENST00000379097;ENST00000425513	.|T;T;T;T;T;T;T	.|0.80738	.|1.09;1.09;-1.41;-1.41;-1.41;-1.41;1.09	4.96|4.96	4.96|4.96	0.65561|0.65561	.|.	0.155728|0.155728	0.56097|0.56097	D|D	0.000021|0.000021	D|D	0.89371|0.89371	0.6696|0.6696	M|M	0.77712|0.77712	2.385|2.385	0.52501|0.52501	D|D	0.999956|0.999956	.|D;D;D	.|0.76494	.|0.999;0.999;0.999	.|D;D;D	.|0.79108	.|0.983;0.992;0.986	D|D	0.90322|0.90322	0.4345|0.4345	6|10	.|0.66056	.|D	.|0.02	-28.0537|-28.0537	16.1575|16.1575	0.81676|0.81676	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|42;42;82	.|P55327-2;E5RKB4;P55327	.|.;.;TPD52_HUMAN	D|Q	94|82;42;42;82;82;82;82;82;42	.|ENSP00000438113:E82Q;ENSP00000368390:E42Q;ENSP00000429915:E42Q;ENSP00000429309:E82Q;ENSP00000429351:E82Q;ENSP00000410222:E82Q;ENSP00000368391:E82Q	.|ENSP00000368390:E42Q	E|E	-|-	3|1	2|0	TPD52|TPD52	81139279|81139279	0.996000|0.996000	0.38824|0.38824	0.936000|0.936000	0.37596|0.37596	0.831000|0.831000	0.47069|0.47069	4.356000|4.356000	0.59430|0.59430	2.589000|2.589000	0.87451|0.87451	0.591000|0.591000	0.81541|0.81541	GAG|GAA		0.428	TPD52-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000379539.2	NM_005079		43	105	0	0	0	0	43	105				
RBM12B	389677	broad.mit.edu	37	8	94746326	94746326	+	Silent	SNP	G	G	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr8:94746326G>A	ENST00000399300.2	-	3	2526	c.2313C>T	c.(2311-2313)ttC>ttT	p.F771F	RBM12B_ENST00000520961.1_Intron|RBM12B_ENST00000517700.1_Silent_p.F651F|RP11-10N23.4_ENST00000517998.1_RNA	NM_203390.2	NP_976324.2	Q8IXT5	RB12B_HUMAN	RNA binding motif protein 12B	771							nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	30	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			GCGGGCGCCTGAAATGCTCTG	0.662																																						uc003yfz.2		NA																	0					0						c.(2311-2313)TTC>TTT		RNA binding motif protein 12B							26.0	31.0	30.0					8																	94746326		1775	4008	5783	SO:0001819	synonymous_variant	389677						nucleotide binding|RNA binding	g.chr8:94746326G>A		CCDS43755.1	8q22	2014-05-20			ENSG00000183808	ENSG00000183808		"""RNA binding motif (RRM) containing"""	32310	protein-coding gene	gene with protein product							Standard	NM_203390		Approved		uc003yfz.3	Q8IXT5	OTTHUMG00000164317	ENST00000399300.2:c.2313C>T	8.37:g.94746326G>A							p.F771F	NM_203390	NP_976324	Q8IXT5	RB12B_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.0168)		3	2506	-	Breast(36;4.14e-07)		771					A8MYB5	Silent	SNP	ENST00000399300.2	37	c.2313C>T	CCDS43755.1																																																																																				0.662	RBM12B-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383603.1	NM_203390		25	88	0	0	0	0	25	88				
ESRP1	54845	broad.mit.edu	37	8	95690463	95690463	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr8:95690463C>T	ENST00000433389.2	+	13	1874	c.1684C>T	c.(1684-1686)Cct>Tct	p.P562S	ESRP1_ENST00000454170.2_Missense_Mutation_p.P562S|ESRP1_ENST00000423620.2_Missense_Mutation_p.P558S|ESRP1_ENST00000358397.5_Missense_Mutation_p.P558S	NM_001034915.2|NM_017697.3	NP_001030087.2|NP_060167.2	Q6NXG1	ESRP1_HUMAN	epithelial splicing regulatory protein 1	562					mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)		ESRP1/RAF1(4)	NS(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(2)	20						ATTTCCAGCTCCTGCTGCAGT	0.493																																						uc003ygq.3		NA																ESRP1/RAF1(4)	0				prostate(4)	4						c.(1684-1686)CCT>TCT		RNA binding motif protein 35A isoform 1							109.0	107.0	108.0					8																	95690463		1964	4150	6114	SO:0001583	missense	54845				mRNA processing|regulation of RNA splicing|RNA splicing	nucleus|plasma membrane	mRNA binding|nucleotide binding	g.chr8:95690463C>T	AK000178	CCDS47895.1, CCDS47896.1, CCDS47897.1, CCDS47898.1	8q22.1	2013-02-12	2009-03-10	2009-03-10	ENSG00000104413	ENSG00000104413		"""RNA binding motif (RRM) containing"""	25966	protein-coding gene	gene with protein product		612959	"""RNA binding motif protein 35A"""	RBM35A		12477932	Standard	NM_017697		Approved	FLJ20171	uc003ygq.4	Q6NXG1	OTTHUMG00000164587	ENST00000433389.2:c.1684C>T	8.37:g.95690463C>T	ENSP00000405738:p.Pro562Ser					ESRP1_uc003ygr.3_Missense_Mutation_p.P558S|ESRP1_uc003ygs.3_Missense_Mutation_p.P558S|ESRP1_uc003ygt.3_Missense_Mutation_p.P562S|ESRP1_uc003ygu.3_Missense_Mutation_p.P558S|ESRP1_uc003ygv.2_Missense_Mutation_p.P402S|ESRP1_uc003ygw.2_Missense_Mutation_p.P402S	p.P562S	NM_017697	NP_060167	Q6NXG1	ESRP1_HUMAN			13	1867	+			562					A6NHA8|A8MPX1|E9PB47|Q2M2B0|Q499G3|Q6PJ86|Q9NXL8	Missense_Mutation	SNP	ENST00000433389.2	37	c.1684C>T	CCDS47897.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.69|14.69	2.610936|2.610936	0.46631|0.46631	.|.	.|.	ENSG00000104413|ENSG00000104413	ENST00000423620;ENST00000433389;ENST00000358397;ENST00000454170;ENST00000517610|ENST00000519505	T;T;T;T;T|.	0.12569|.	2.87;2.86;2.87;2.91;2.67|.	5.18|5.18	5.18|5.18	0.71444|0.71444	.|.	0.284663|.	0.39985|.	N|.	0.001215|.	T|T	0.68035|0.68035	0.2957|0.2957	L|L	0.43152|0.43152	1.355|1.355	0.43480|0.43480	D|D	0.995701|0.995701	B;B;B;B;B;B|.	0.25955|.	0.138;0.014;0.014;0.004;0.014;0.008|.	B;B;B;B;B;B|.	0.24394|.	0.053;0.025;0.015;0.003;0.025;0.016|.	T|T	0.63989|0.63989	-0.6512|-0.6512	10|5	0.33141|.	T|.	0.24|.	-11.4794|-11.4794	19.0575|19.0575	0.93072|0.93072	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	562;562;562;558;558;562|.	D7PBN3;Q6NXG1-4;Q6NXG1-2;E9PB47;Q6NXG1-3;Q6NXG1|.	.;.;.;.;.;ESRP1_HUMAN|.	S|F	558;562;558;562;421|427	ENSP00000407349:P558S;ENSP00000405738:P562S;ENSP00000351168:P558S;ENSP00000402766:P562S;ENSP00000429125:P421S|.	ENSP00000351168:P558S|.	P|S	+|+	1|2	0|0	ESRP1|ESRP1	95759639|95759639	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.921000|0.921000	0.55340|0.55340	4.187000|4.187000	0.58344|0.58344	2.554000|2.554000	0.86153|0.86153	0.655000|0.655000	0.94253|0.94253	CCT|TCC		0.493	ESRP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379326.1	NM_017697		24	81	0	0	0	0	24	81				
NIPAL2	79815	broad.mit.edu	37	8	99215352	99215352	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr8:99215352G>C	ENST00000341166.3	-	8	1119	c.864C>G	c.(862-864)atC>atG	p.I288M	NIPAL2_ENST00000520545.1_5'UTR|NIPAL2_ENST00000430223.2_Missense_Mutation_p.I288M	NM_024759.1	NP_079035.1	Q9H841	NPAL2_HUMAN	NIPA-like domain containing 2	288						integral component of membrane (GO:0016021)	magnesium ion transmembrane transporter activity (GO:0015095)			cervix(3)|kidney(1)|large_intestine(2)|lung(5)|stomach(1)	12						TGATGGCACTGATTGTAAAGA	0.398																																						uc003yil.1		NA																	0					0						c.(862-864)ATC>ATG		NIPA-like domain containing 2							181.0	159.0	166.0					8																	99215352		2203	4300	6503	SO:0001583	missense	79815					integral to membrane		g.chr8:99215352G>C	AK024017	CCDS6278.1	8q22.2	2009-03-24		2009-03-24	ENSG00000104361	ENSG00000104361			25854	protein-coding gene	gene with protein product				NPAL2		14702039	Standard	NM_024759		Approved	FLJ13955	uc003yil.1	Q9H841	OTTHUMG00000164668	ENST00000341166.3:c.864C>G	8.37:g.99215352G>C	ENSP00000339256:p.Ile288Met					NIPAL2_uc011lgw.1_Missense_Mutation_p.I84M|NIPAL2_uc003yim.1_Missense_Mutation_p.I288M	p.I288M	NM_024759	NP_079035	Q9H841	NPAL2_HUMAN			8	1120	-			288			Helical; (Potential).		A2RTY8	Missense_Mutation	SNP	ENST00000341166.3	37	c.864C>G	CCDS6278.1	.	.	.	.	.	.	.	.	.	.	G	9.357	1.066895	0.20067	.	.	ENSG00000104361	ENST00000430223;ENST00000341166	D;D	0.90133	-2.62;-2.62	5.0	3.18	0.36537	.	0.333782	0.31909	N	0.006879	D	0.87229	0.6125	L	0.48642	1.525	0.27327	N	0.956889	B;B	0.29955	0.263;0.148	B;B	0.38803	0.282;0.058	T	0.79938	-0.1592	10	0.54805	T	0.06	-7.9166	6.0753	0.19911	0.2333:0.1364:0.6304:0.0	.	288;288	A2RTY8;Q9H841	.;NPAL2_HUMAN	M	288	ENSP00000407087:I288M;ENSP00000339256:I288M	ENSP00000339256:I288M	I	-	3	3	NIPAL2	99284528	1.000000	0.71417	1.000000	0.80357	0.879000	0.50718	1.617000	0.36943	0.617000	0.30160	0.558000	0.71614	ATC		0.398	NIPAL2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000379677.1	NM_024759		23	38	0	0	0	0	23	38				
VPS13B	157680	broad.mit.edu	37	8	100654378	100654378	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr8:100654378G>A	ENST00000358544.2	+	34	5746	c.5635G>A	c.(5635-5637)Gaa>Aaa	p.E1879K	VPS13B_ENST00000357162.2_Missense_Mutation_p.E1854K|VPS13B_ENST00000395996.1_3'UTR	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	1879					protein transport (GO:0015031)					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			AAATCTCCCAGAAGTTGATTC	0.388																																					Colon(161;2205 2542 7338 31318)	uc003yiv.2		NA																	0				ovary(7)|skin(4)|lung(3)|central_nervous_system(2)|pancreas(2)|breast(1)|kidney(1)	20						c.(5635-5637)GAA>AAA		vacuolar protein sorting 13B isoform 5							92.0	97.0	95.0					8																	100654378		2203	4300	6503	SO:0001583	missense	157680				protein transport			g.chr8:100654378G>A	AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"""Cohen syndrome 1"""	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.5635G>A	8.37:g.100654378G>A	ENSP00000351346:p.Glu1879Lys					VPS13B_uc003yiw.2_Missense_Mutation_p.E1854K	p.E1879K	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.00636)		34	5746	+	Breast(36;3.73e-07)		1879					C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Missense_Mutation	SNP	ENST00000358544.2	37	c.5635G>A	CCDS6280.1	.	.	.	.	.	.	.	.	.	.	G	11.22	1.574877	0.28092	.	.	ENSG00000132549	ENST00000357162;ENST00000358544	T;T	0.71461	-0.57;-0.57	5.6	4.72	0.59763	.	0.378725	0.27700	N	0.018215	T	0.51787	0.1695	N	0.19112	0.55	0.80722	D	1	B;B	0.22211	0.066;0.044	B;B	0.21708	0.036;0.024	T	0.45041	-0.9288	10	0.12430	T	0.62	.	10.9692	0.47431	0.1429:0.0:0.8571:0.0	.	1854;1879	Q7Z7G8-2;Q7Z7G8	.;VP13B_HUMAN	K	1854;1879	ENSP00000349685:E1854K;ENSP00000351346:E1879K	ENSP00000349685:E1854K	E	+	1	0	VPS13B	100723554	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.143000	0.50608	2.652000	0.90054	0.561000	0.74099	GAA		0.388	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1	NM_184042		20	189	0	0	0	0	20	189				
VPS13B	157680	broad.mit.edu	37	8	100844830	100844830	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr8:100844830G>C	ENST00000358544.2	+	52	9750	c.9639G>C	c.(9637-9639)caG>caC	p.Q3213H	VPS13B_ENST00000357162.2_Missense_Mutation_p.Q3188H|VPS13B_ENST00000395996.1_3'UTR	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	3213					protein transport (GO:0015031)					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			TTCCCAGACAGAGTGTGGCAG	0.473																																					Colon(161;2205 2542 7338 31318)	uc003yiv.2		NA																	0				ovary(7)|skin(4)|lung(3)|central_nervous_system(2)|pancreas(2)|breast(1)|kidney(1)	20						c.(9637-9639)CAG>CAC		vacuolar protein sorting 13B isoform 5							65.0	65.0	65.0					8																	100844830		2203	4300	6503	SO:0001583	missense	157680				protein transport			g.chr8:100844830G>C	AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"""Cohen syndrome 1"""	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.9639G>C	8.37:g.100844830G>C	ENSP00000351346:p.Gln3213His					VPS13B_uc003yiw.2_Missense_Mutation_p.Q3188H	p.Q3213H	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.00636)		52	9750	+	Breast(36;3.73e-07)		3213					C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Missense_Mutation	SNP	ENST00000358544.2	37	c.9639G>C	CCDS6280.1	.	.	.	.	.	.	.	.	.	.	G	19.30	3.801243	0.70567	.	.	ENSG00000132549	ENST00000357162;ENST00000358544	T;T	0.70516	-0.49;-0.49	5.62	3.81	0.43845	.	0.000000	0.85682	D	0.000000	T	0.80308	0.4599	L	0.59436	1.845	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.79784	0.955;0.993	T	0.80654	-0.1286	10	0.66056	D	0.02	.	12.9204	0.58228	0.119:0.0:0.881:0.0	.	3188;3213	Q7Z7G8-2;Q7Z7G8	.;VP13B_HUMAN	H	3188;3213	ENSP00000349685:Q3188H;ENSP00000351346:Q3213H	ENSP00000349685:Q3188H	Q	+	3	2	VPS13B	100914006	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	2.996000	0.49449	0.706000	0.31912	0.557000	0.71058	CAG		0.473	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1	NM_184042		23	104	0	0	0	0	23	104				
YWHAZ	7534	broad.mit.edu	37	8	101936232	101936232	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr8:101936232G>A	ENST00000395957.2	-	6	970	c.629C>T	c.(628-630)tCa>tTa	p.S210L	YWHAZ_ENST00000395951.3_Missense_Mutation_p.S210L|YWHAZ_ENST00000522542.1_Missense_Mutation_p.S135L|YWHAZ_ENST00000419477.2_Missense_Mutation_p.S210L|YWHAZ_ENST00000457309.1_Missense_Mutation_p.S210L|YWHAZ_ENST00000395958.2_Missense_Mutation_p.S210L|YWHAZ_ENST00000395948.2_Missense_Mutation_p.S133L|YWHAZ_ENST00000353245.3_Missense_Mutation_p.S210L|YWHAZ_ENST00000521309.1_Missense_Mutation_p.S90L|YWHAZ_ENST00000522819.1_Missense_Mutation_p.S90L|YWHAZ_ENST00000395953.2_Missense_Mutation_p.S210L|YWHAZ_ENST00000395956.3_Missense_Mutation_p.S210L			P63104	1433Z_HUMAN	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, zeta	210					apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|gene expression (GO:0010467)|histamine secretion by mast cell (GO:0002553)|intrinsic apoptotic signaling pathway (GO:0097193)|membrane organization (GO:0061024)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|platelet activation (GO:0030168)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|protein targeting to mitochondrion (GO:0006626)|response to drug (GO:0042493)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|mast cell granule (GO:0042629)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)	identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|transcription factor binding (GO:0008134)			large_intestine(1)|lung(2)	3	all_cancers(14;7.43e-06)|all_epithelial(15;2.77e-08)|Lung NSC(17;6.08e-05)|all_lung(17;0.000197)		Epithelial(11;2.79e-11)|all cancers(13;5.45e-09)|OV - Ovarian serous cystadenocarcinoma(57;4.75e-05)			GTCTTTGTATGACTCTTCACT	0.343																																						uc011lhe.1		NA																	0					0						c.(628-630)TCA>TTA		tyrosine 3/tryptophan 5 -monooxygenase	Ginkgo biloba(DB01381)						153.0	149.0	150.0					8																	101936232		2203	4297	6500	SO:0001583	missense	7534				anti-apoptosis|mRNA metabolic process|platelet activation|signal transduction	cytosol|melanosome	transcription factor binding	g.chr8:101936232G>A	U28964	CCDS6290.1	8q22.3	2013-12-03	2013-12-03		ENSG00000164924	ENSG00000164924			12855	protein-coding gene	gene with protein product	"""14-3-3 zeta"", ""14-3-3 delta"""	601288	"""tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, delta polypeptide"", ""tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, zeta polypeptide"""	YWHAD		8617504, 7890696	Standard	NM_003406		Approved	KCIP-1, 14-3-3-zeta	uc010mbr.2	P63104	OTTHUMG00000134291	ENST00000395957.2:c.629C>T	8.37:g.101936232G>A	ENSP00000379287:p.Ser210Leu					YWHAZ_uc003yjv.2_Missense_Mutation_p.S210L|YWHAZ_uc011lhf.1_Missense_Mutation_p.S210L|YWHAZ_uc003yjw.2_Missense_Mutation_p.S210L|YWHAZ_uc010mbq.2_Missense_Mutation_p.S133L|YWHAZ_uc011lhg.1_Missense_Mutation_p.S90L|YWHAZ_uc010mbr.2_Missense_Mutation_p.S210L|YWHAZ_uc003yjx.2_Missense_Mutation_p.S210L|YWHAZ_uc003yjy.2_Missense_Mutation_p.S210L	p.S210L	NM_001135702	NP_001129174	P63104	1433Z_HUMAN	Epithelial(11;2.79e-11)|all cancers(13;5.45e-09)|OV - Ovarian serous cystadenocarcinoma(57;4.75e-05)		5	806	-	all_cancers(14;7.43e-06)|all_epithelial(15;2.77e-08)|Lung NSC(17;6.08e-05)|all_lung(17;0.000197)		210					A8K1N0|B7Z465|P29213|P29312|Q32P43|Q5XJ08|Q6GPI2|Q6IN74|Q6NUR9|Q6P3U9|Q86V33	Missense_Mutation	SNP	ENST00000395957.2	37	c.629C>T	CCDS6290.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.162273	0.78226	.	.	ENSG00000164924	ENST00000395957;ENST00000457309;ENST00000395958;ENST00000395956;ENST00000353245;ENST00000522542;ENST00000521309;ENST00000517797;ENST00000522819;ENST00000395953;ENST00000395948;ENST00000395951;ENST00000419477;ENST00000521607	T;T;T;T;T;T;T;T;T;T;T;T;T	0.49720	0.77;0.77;0.77;0.77;0.77;0.77;0.77;0.77;0.77;0.77;0.77;0.77;0.77	5.34	5.34	0.76211	14-3-3 domain (4);	0.000000	0.64402	D	0.000019	T	0.69806	0.3152	H	0.94582	3.555	0.80722	D	1	B;B	0.34329	0.449;0.449	B;B	0.42462	0.388;0.388	T	0.76971	-0.2761	10	0.87932	D	0	.	19.42	0.94716	0.0:0.0:1.0:0.0	.	210;210	D0PNI1;P63104	.;1433Z_HUMAN	L	210;210;210;210;210;135;90;133;90;210;133;210;210;218	ENSP00000379287:S210L;ENSP00000398599:S210L;ENSP00000379288:S210L;ENSP00000379286:S210L;ENSP00000309503:S210L;ENSP00000430072:S135L;ENSP00000429623:S90L;ENSP00000428775:S90L;ENSP00000379283:S210L;ENSP00000379278:S133L;ENSP00000379281:S210L;ENSP00000395114:S210L;ENSP00000430058:S218L	ENSP00000309503:S210L	S	-	2	0	YWHAZ	102005408	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.813000	0.99286	2.673000	0.90976	0.650000	0.86243	TCA		0.343	YWHAZ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259017.2	NM_145690		42	159	0	0	0	0	42	159				
NCALD	83988	broad.mit.edu	37	8	102701558	102701558	+	Silent	SNP	C	C	T	rs377687036		TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr8:102701558C>T	ENST00000311028.3	-	7	939	c.561G>A	c.(559-561)ccG>ccA	p.P187P	KB-1107E3.1_ENST00000518749.1_RNA|NCALD_ENST00000521599.1_Silent_p.P187P|NCALD_ENST00000519508.2_Silent_p.P187P|NCALD_ENST00000395923.1_Silent_p.P187P|NCALD_ENST00000522951.1_Intron|NCALD_ENST00000220931.6_Silent_p.P187P	NM_001040624.1|NM_001040626.1	NP_001035714.1|NP_001035716.1	P61601	NCALD_HUMAN	neurocalcin delta	187					calcium-mediated signaling (GO:0019722)|regulation of systemic arterial blood pressure (GO:0003073)|synaptic transmission (GO:0007268)|vesicle-mediated transport (GO:0016192)	clathrin coat of trans-Golgi network vesicle (GO:0030130)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|clathrin binding (GO:0030276)|tubulin binding (GO:0015631)			endometrium(1)|large_intestine(2)|lung(4)|prostate(1)	8	all_cancers(14;8.94e-08)|all_epithelial(15;7.03e-10)|Lung NSC(17;1.36e-05)|all_lung(17;2.7e-05)		all cancers(13;1.09e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000699)			CGGCACTGCTCGGGTCGCACT	0.502													C|||	1	0.000199681	0.0	0.0	5008	,	,		17934	0.0		0.001	False		,,,				2504	0.0					uc003yke.2		NA																	0					0						c.(559-561)CCG>CCA		neurocalcin delta		C	,,,,,,,	1,4405	2.1+/-5.4	0,1,2202	43.0	41.0	42.0		561,561,561,561,561,561,561,561	-3.7	0.8	8		42	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	NCALD	NM_001040624.1,NM_001040625.1,NM_001040626.1,NM_001040627.1,NM_001040628.1,NM_001040629.1,NM_001040630.1,NM_032041.2	,,,,,,,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,,,,,,,	187/194,187/194,187/194,187/194,187/194,187/194,187/194,187/194	102701558	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	83988				synaptic transmission|vesicle-mediated transport	clathrin coat of trans-Golgi network vesicle|cytosol	actin binding|calcium ion binding|clathrin binding|tubulin binding	g.chr8:102701558C>T	AF052142	CCDS6292.1	8q22.3	2014-08-12			ENSG00000104490	ENSG00000104490		"""EF-hand domain containing"""	7655	protein-coding gene	gene with protein product		606722				11267673	Standard	XM_006716672		Approved		uc003ykk.3	P61601	OTTHUMG00000164876	ENST00000311028.3:c.561G>A	8.37:g.102701558C>T						NCALD_uc003ykf.2_Silent_p.P187P|NCALD_uc003ykg.2_Silent_p.P187P|NCALD_uc003ykh.2_Silent_p.P187P|NCALD_uc003yki.2_Silent_p.P187P|NCALD_uc003ykj.2_Silent_p.P187P|NCALD_uc003ykk.2_Silent_p.P187P|NCALD_uc003ykl.2_Silent_p.P187P	p.P187P	NM_032041	NP_114430	P61601	NCALD_HUMAN	all cancers(13;1.09e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000699)		4	930	-	all_cancers(14;8.94e-08)|all_epithelial(15;7.03e-10)|Lung NSC(17;1.36e-05)|all_lung(17;2.7e-05)		187					P29554|Q8IYC3|Q9H0W2	Silent	SNP	ENST00000311028.3	37	c.561G>A	CCDS6292.1																																																																																				0.502	NCALD-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380732.2			5	27	0	0	0	0	5	27				
TNFRSF11B	4982	broad.mit.edu	37	8	119940992	119940992	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr8:119940992G>C	ENST00000297350.4	-	3	955	c.577C>G	c.(577-579)Caa>Gaa	p.Q193E		NM_002546.3	NP_002537.3	O00300	TR11B_HUMAN	tumor necrosis factor receptor superfamily, member 11b	193					apoptotic process (GO:0006915)|extracellular matrix organization (GO:0030198)|negative regulation of bone resorption (GO:0045779)|negative regulation of odontogenesis of dentin-containing tooth (GO:0042489)|response to arsenic-containing substance (GO:0046685)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to magnesium ion (GO:0032026)|response to nutrient (GO:0007584)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	cytokine activity (GO:0005125)|receptor activity (GO:0004872)			breast(1)|central_nervous_system(3)|endometrium(4)|large_intestine(6)|lung(7)|prostate(3)|skin(1)	25	all_cancers(13;3.71e-26)|Lung NSC(37;1.69e-07)|Ovarian(258;0.018)|all_neural(195;0.0592)|Hepatocellular(40;0.234)		STAD - Stomach adenocarcinoma(47;0.00193)			CCACATTTTTGAGTTGATTCA	0.393																																						uc003yon.3		NA																	0				central_nervous_system(2)	2						c.(577-579)CAA>GAA		osteoprotegerin precursor							238.0	222.0	228.0					8																	119940992		2203	4300	6503	SO:0001583	missense	4982				apoptosis|skeletal system development		cytokine activity|receptor activity	g.chr8:119940992G>C	U94332	CCDS6326.1	8q24	2008-07-31	2008-07-31		ENSG00000164761	ENSG00000164761		"""Tumor necrosis factor receptor superfamily"""	11909	protein-coding gene	gene with protein product		602643	"""osteoprotegerin"""	OPG		9108485	Standard	NM_002546		Approved	OCIF, TR1	uc003yon.4	O00300	OTTHUMG00000164969	ENST00000297350.4:c.577C>G	8.37:g.119940992G>C	ENSP00000297350:p.Gln193Glu					TNFRSF11B_uc010mdc.1_RNA	p.Q193E	NM_002546	NP_002537	O00300	TR11B_HUMAN	STAD - Stomach adenocarcinoma(47;0.00193)		3	900	-	all_cancers(13;3.71e-26)|Lung NSC(37;1.69e-07)|Ovarian(258;0.018)|all_neural(195;0.0592)|Hepatocellular(40;0.234)		193					B2R9A8|O60236|Q53FX6|Q9UHP4	Missense_Mutation	SNP	ENST00000297350.4	37	c.577C>G	CCDS6326.1	.	.	.	.	.	.	.	.	.	.	G	0.008	-1.873185	0.00542	.	.	ENSG00000164761	ENST00000297350	T	0.60548	0.18	5.73	2.85	0.33270	.	0.700146	0.14284	N	0.329352	T	0.44829	0.1312	L	0.40543	1.245	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.28038	-1.0056	9	.	.	.	-1.1444	8.5732	0.33583	0.0668:0.0:0.535:0.3981	.	193	O00300	TR11B_HUMAN	E	193	ENSP00000297350:Q193E	.	Q	-	1	0	TNFRSF11B	120010173	0.213000	0.23551	0.000000	0.03702	0.271000	0.26615	1.906000	0.39887	0.297000	0.22615	0.650000	0.86243	CAA		0.393	TNFRSF11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381220.1			4	200	0	0	0	0	4	200				
SNTB1	6641	broad.mit.edu	37	8	121823639	121823639	+	Missense_Mutation	SNP	C	C	T	rs199623485		TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr8:121823639C>T	ENST00000395601.3	-	2	859	c.445G>A	c.(445-447)Gac>Aac	p.D149N	SNTB1_ENST00000517992.1_Missense_Mutation_p.D149N|RP11-713M15.2_ENST00000605955.1_RNA|SNTB1_ENST00000519177.1_5'UTR	NM_021021.3	NP_066301.1	Q13884	SNTB1_HUMAN	syntrophin, beta 1 (dystrophin-associated protein A1, 59kDa, basic component 1)	149	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.|PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				muscle contraction (GO:0006936)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|focal adhesion (GO:0005925)|protein complex (GO:0043234)|synapse (GO:0045202)				NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(2)|skin(6)	24	Lung NSC(37;4.46e-09)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)		STAD - Stomach adenocarcinoma(47;0.00503)			TGGGTCTGGTCCGCCGCCAGC	0.657																																						uc010mdg.2		NA																	0				skin(5)	5						c.(445-447)GAC>AAC		basic beta 1 syntrophin							62.0	66.0	65.0					8																	121823639		2203	4300	6503	SO:0001583	missense	6641				muscle contraction	cell junction|cytoplasm|cytoskeleton|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|calmodulin binding	g.chr8:121823639C>T	AF028828	CCDS6334.1	8q23-q24	2013-01-10	2002-08-29		ENSG00000172164	ENSG00000172164		"""Pleckstrin homology (PH) domain containing"""	11168	protein-coding gene	gene with protein product	"""tax interaction protein 43"""	600026	"""syntrophin, beta 1 (dystrophin-associated protein A1, 59kD, basic component 1)"""	SNT2B1		8183929, 9482110	Standard	NM_021021		Approved	59-DAP, A1B, BSYN2, TIP-43, SNT2	uc010mdg.3	Q13884	OTTHUMG00000165041	ENST00000395601.3:c.445G>A	8.37:g.121823639C>T	ENSP00000378965:p.Asp149Asn					SNTB1_uc003ype.2_Missense_Mutation_p.D149N	p.D149N	NM_021021	NP_066301	Q13884	SNTB1_HUMAN	STAD - Stomach adenocarcinoma(47;0.00503)		1	671	-	Lung NSC(37;4.46e-09)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)		149			PH 1.|PDZ.		A8K9E0|O14912|Q4KMG8	Missense_Mutation	SNP	ENST00000395601.3	37	c.445G>A	CCDS6334.1	.	.	.	.	.	.	.	.	.	.	C	35	5.563830	0.96527	.	.	ENSG00000172164	ENST00000395601;ENST00000517992	T;T	0.27720	1.65;1.65	4.84	4.84	0.62591	PDZ/DHR/GLGF (4);Pleckstrin homology domain (2);	0.000000	0.85682	D	0.000000	T	0.61324	0.2338	M	0.85462	2.755	0.80722	D	1	D;D	0.76494	0.999;0.997	D;D	0.81914	0.995;0.986	T	0.69179	-0.5213	10	0.87932	D	0	.	17.9009	0.88904	0.0:1.0:0.0:0.0	.	149;149	Q13884;Q13884-2	SNTB1_HUMAN;.	N	149	ENSP00000378965:D149N;ENSP00000431124:D149N	ENSP00000378965:D149N	D	-	1	0	SNTB1	121892820	1.000000	0.71417	0.963000	0.40424	0.974000	0.67602	7.646000	0.83445	2.379000	0.81126	0.561000	0.74099	GAC		0.657	SNTB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381535.1	NM_021021		22	88	0	0	0	0	22	88				
TBC1D31	93594	broad.mit.edu	37	8	124140671	124140671	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr8:124140671C>A	ENST00000287380.1	+	14	2125	c.2035C>A	c.(2035-2037)Caa>Aaa	p.Q679K	TBC1D31_ENST00000309336.3_Missense_Mutation_p.Q679K|TBC1D31_ENST00000518805.1_Intron|TBC1D31_ENST00000521676.1_Missense_Mutation_p.Q556K|TBC1D31_ENST00000522420.1_Missense_Mutation_p.Q574K|TBC1D31_ENST00000378080.2_Missense_Mutation_p.Q574K|TBC1D31_ENST00000327098.5_Missense_Mutation_p.Q679K	NM_145647.3	NP_663622.2	Q96DN5	TBC31_HUMAN	TBC1 domain family, member 31	679						centrosome (GO:0005813)	Rab GTPase activator activity (GO:0005097)										AGTATTTAATCAATATCCAAA	0.358																																						uc003ypp.1		NA																	0				skin(1)	1						c.(2035-2037)CAA>AAA		WD repeat domain 67 isoform 1							108.0	100.0	102.0					8																	124140671		2203	4300	6503	SO:0001583	missense	93594					centrosome	Rab GTPase activator activity	g.chr8:124140671C>A	AK094612	CCDS6338.1, CCDS47916.1	8q24.13	2013-07-10	2013-07-10	2013-07-10	ENSG00000156787	ENSG00000156787		"""WD repeat domain containing"""	30888	protein-coding gene	gene with protein product			"""WD repeat domain 67"""	WDR67		12477932	Standard	NM_001145088		Approved	MGC21654, Gm85	uc003ypp.2	Q96DN5	OTTHUMG00000165081	ENST00000287380.1:c.2035C>A	8.37:g.124140671C>A	ENSP00000287380:p.Gln679Lys					WDR67_uc011lig.1_Missense_Mutation_p.Q679K|WDR67_uc011lih.1_Missense_Mutation_p.Q569K|WDR67_uc003ypq.1_RNA|WDR67_uc003yps.1_Intron|WDR67_uc003ypt.1_Missense_Mutation_p.Q136K|WDR67_uc003ypu.1_Missense_Mutation_p.Q136K	p.Q679K	NM_145647	NP_663622	Q96DN5	WDR67_HUMAN	STAD - Stomach adenocarcinoma(47;0.00527)		14	2125	+	Lung NSC(37;7e-10)|Ovarian(258;0.0205)		679					B7ZL19|Q2M2J9|Q3MIR6|Q8TBP9	Missense_Mutation	SNP	ENST00000287380.1	37	c.2035C>A	CCDS6338.1	.	.	.	.	.	.	.	.	.	.	C	6.225	0.409687	0.11812	.	.	ENSG00000156787	ENST00000287380;ENST00000309336;ENST00000327098;ENST00000522420;ENST00000521676;ENST00000378080	T;T;T;T;T;T	0.76839	0.08;0.04;0.03;-0.39;-0.64;-1.05	5.73	3.76	0.43208	.	0.362275	0.31156	N	0.008146	T	0.44644	0.1303	N	0.00980	-1.08	0.35650	D	0.811684	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.0;0.001;0.0	T	0.53099	-0.8486	10	0.02654	T	1	-16.0584	12.2309	0.54486	0.576:0.424:0.0:0.0	.	679;679;679	B7ZL19;Q96DN5-2;Q96DN5	.;.;WDR67_HUMAN	K	679;679;679;574;556;574	ENSP00000287380:Q679K;ENSP00000308358:Q679K;ENSP00000312701:Q679K;ENSP00000429334:Q574K;ENSP00000430628:Q556K;ENSP00000367320:Q574K	ENSP00000287380:Q679K	Q	+	1	0	WDR67	124209852	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.994000	0.49433	1.412000	0.46977	0.585000	0.79938	CAA		0.358	TBC1D31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381721.1	NM_145647		36	63	1	0	1.84e-18	1.97e-18	36	63				
KLHL38	340359	broad.mit.edu	37	8	124664436	124664436	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr8:124664436G>A	ENST00000325995.7	-	1	754	c.731C>T	c.(730-732)tCc>tTc	p.S244F	CTD-2552K11.2_ENST00000524355.1_RNA	NM_001081675.2	NP_001075144.2	Q2WGJ6	KLH38_HUMAN	kelch-like family member 38	244										breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(16)|pancreas(1)|prostate(3)|stomach(1)	38						TGCAGGCGAGGACTGCAGGAG	0.552																																						uc003yqs.1		NA																	0					0						c.(730-732)TCC>TTC		kelch-like 38							59.0	63.0	62.0					8																	124664436		2116	4244	6360	SO:0001583	missense	340359							g.chr8:124664436G>A		CCDS43766.1	8q24.13	2013-02-22	2013-02-22		ENSG00000175946	ENSG00000175946		"""Kelch-like"", ""BTB/POZ domain containing"""	34435	protein-coding gene	gene with protein product			"""kelch-like 38 (Drosophila)"""				Standard	NM_001081675		Approved	C8ORFK36	uc003yqs.1	Q2WGJ6	OTTHUMG00000164983	ENST00000325995.7:c.731C>T	8.37:g.124664436G>A	ENSP00000321475:p.Ser244Phe						p.S244F	NM_001081675	NP_001075144	Q2WGJ6	KLH38_HUMAN			1	755	-			244					A0PK12	Missense_Mutation	SNP	ENST00000325995.7	37	c.731C>T	CCDS43766.1	.	.	.	.	.	.	.	.	.	.	G	16.93	3.258329	0.59321	.	.	ENSG00000175946	ENST00000325995	T	0.74002	-0.8	5.84	5.84	0.93424	.	0.211969	0.51477	D	0.000092	T	0.79907	0.4527	M	0.78223	2.4	0.58432	D	0.999999	P	0.37158	0.585	B	0.40199	0.322	T	0.81309	-0.0991	10	0.72032	D	0.01	.	20.1278	0.97990	0.0:0.0:1.0:0.0	.	244	Q2WGJ6	KLH38_HUMAN	F	244	ENSP00000321475:S244F	ENSP00000321475:S244F	S	-	2	0	KLHL38	124733617	1.000000	0.71417	0.343000	0.25615	0.097000	0.18754	6.702000	0.74628	2.768000	0.95171	0.561000	0.74099	TCC		0.552	KLHL38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381288.1			19	80	0	0	0	0	19	80				
FER1L6	654463	broad.mit.edu	37	8	125072457	125072457	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr8:125072457G>C	ENST00000522917.1	+	23	3117	c.2911G>C	c.(2911-2913)Gag>Cag	p.E971Q	FER1L6-AS2_ENST00000520031.1_RNA|FER1L6-AS2_ENST00000601180.1_RNA|FER1L6_ENST00000399018.1_Missense_Mutation_p.E971Q	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like family member 6	971						integral component of membrane (GO:0016021)				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			CCCACCCGTTGAGCCACCAGA	0.582																																						uc003yqw.2		NA																	0				ovary(5)|skin(5)|central_nervous_system(1)	11						c.(2911-2913)GAG>CAG		fer-1-like 6							105.0	116.0	112.0					8																	125072457		2196	4295	6491	SO:0001583	missense	654463					integral to membrane		g.chr8:125072457G>C	AB196633	CCDS43767.1	8q24.13	2014-06-27	2014-06-27		ENSG00000214814	ENSG00000214814			28065	protein-coding gene	gene with protein product			"""fer-1-like 6 (C. elegans)"""				Standard	NM_001039112		Approved	C8ORFK23	uc003yqw.3	Q2WGJ9	OTTHUMG00000164998	ENST00000522917.1:c.2911G>C	8.37:g.125072457G>C	ENSP00000428280:p.Glu971Gln					uc003yqy.1_RNA	p.E971Q	NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	STAD - Stomach adenocarcinoma(47;0.00186)		23	3117	+	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		971			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000522917.1	37	c.2911G>C	CCDS43767.1	.	.	.	.	.	.	.	.	.	.	G	13.17	2.156845	0.38119	.	.	ENSG00000214814	ENST00000522917;ENST00000399018	D;D	0.82433	-1.61;-1.61	5.65	5.65	0.86999	.	0.382752	0.26609	U	0.023435	T	0.80232	0.4585	L	0.50333	1.59	0.39603	D	0.969768	B	0.14805	0.011	B	0.13407	0.009	T	0.74538	-0.3632	10	0.21014	T	0.42	-6.9212	19.3172	0.94220	0.0:0.0:1.0:0.0	.	971	Q2WGJ9	FR1L6_HUMAN	Q	971	ENSP00000428280:E971Q;ENSP00000381982:E971Q	ENSP00000381982:E971Q	E	+	1	0	FER1L6	125141638	1.000000	0.71417	0.928000	0.36995	0.052000	0.14988	8.239000	0.89811	2.679000	0.91253	0.655000	0.94253	GAG		0.582	FER1L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381400.1	NM_001039112		41	119	0	0	0	0	41	119				
TMEM71	137835	broad.mit.edu	37	8	133740154	133740154	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr8:133740154G>A	ENST00000356838.3	-	6	651	c.509C>T	c.(508-510)tCt>tTt	p.S170F	TMEM71_ENST00000377901.4_Intron|TMEM71_ENST00000523829.1_Missense_Mutation_p.S189F	NM_144649.2	NP_653250.2	Q6P5X7	TMM71_HUMAN	transmembrane protein 71	189						integral component of membrane (GO:0016021)				endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|skin(2)	16	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			GTGGCTGGAAGAGGAGGTGAT	0.478																																						uc003ytp.2		NA																	0				ovary(2)	2						c.(562-564)TCT>TTT		transmembrane protein 71 isoform 1							127.0	121.0	123.0					8																	133740154		2203	4300	6503	SO:0001583	missense	137835					integral to membrane		g.chr8:133740154G>A	AK057631	CCDS6366.1, CCDS47921.1	8q24.22	2005-09-02				ENSG00000165071			26572	protein-coding gene	gene with protein product						12477932	Standard	NM_144649		Approved	FLJ33069	uc003ytn.3	Q6P5X7		ENST00000356838.3:c.509C>T	8.37:g.133740154G>A	ENSP00000349296:p.Ser170Phe					TMEM71_uc003ytm.1_Missense_Mutation_p.S10F|TMEM71_uc003ytn.2_Missense_Mutation_p.S170F|TMEM71_uc003yto.2_Intron	p.S188F	NM_144649	NP_653250	Q6P5X7	TMM71_HUMAN	BRCA - Breast invasive adenocarcinoma(115;4.46e-05)		6	792	-	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		189					Q3KRC2|Q8WVZ4|Q96LX9	Missense_Mutation	SNP	ENST00000356838.3	37	c.563C>T	CCDS6366.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.49|14.49	2.551585|2.551585	0.45487|0.45487	.|.	.|.	ENSG00000165071|ENSG00000165071	ENST00000522780|ENST00000523829;ENST00000356838	.|.	.|.	.|.	5.95|5.95	4.09|4.09	0.47781|0.47781	.|.	.|0.792616	.|0.11359	.|N	.|0.572102	T|T	0.32675|0.32675	0.0837|0.0837	L|L	0.35723|0.35723	1.085|1.085	0.18873|0.18873	N|N	0.999989|0.999989	.|B;B	.|0.20671	.|0.047;0.047	.|B;B	.|0.20955	.|0.032;0.032	T|T	0.23797|0.23797	-1.0178|-1.0178	5|9	.|0.36615	.|T	.|0.2	-1.0134|-1.0134	7.6758|7.6758	0.28484|0.28484	0.2068:0.0:0.7932:0.0|0.2068:0.0:0.7932:0.0	.|.	.|189;170	.|Q6P5X7;Q6P5X7-2	.|TMM71_HUMAN;.	F|F	27|189;170	.|.	.|ENSP00000349296:S170F	L|S	-|-	1|2	0|0	TMEM71|TMEM71	133809336|133809336	0.001000|0.001000	0.12720|0.12720	0.001000|0.001000	0.08648|0.08648	0.009000|0.009000	0.06853|0.06853	0.474000|0.474000	0.22148|0.22148	0.775000|0.775000	0.33450|0.33450	0.609000|0.609000	0.83330|0.83330	CTT|TCT		0.478	TMEM71-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379591.1	NM_144649		16	144	0	0	0	0	16	144				
CYP11B2	1585	broad.mit.edu	37	8	143993975	143993975	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr8:143993975C>G	ENST00000323110.2	-	8	1371	c.1369G>C	c.(1369-1371)Gag>Cag	p.E457Q		NM_000498.3	NP_000489.3	P19099	C11B2_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 2	457					aldosterone biosynthetic process (GO:0032342)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|mineralocorticoid biosynthetic process (GO:0006705)|potassium ion homeostasis (GO:0055075)|regulation of blood volume by renal aldosterone (GO:0002017)|renal water homeostasis (GO:0003091)|small molecule metabolic process (GO:0044281)|sodium ion homeostasis (GO:0055078)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	corticosterone 18-monooxygenase activity (GO:0047783)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid 11-beta-monooxygenase activity (GO:0004507)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(22)|ovary(3)|upper_aerodigestive_tract(3)	39	all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Eplerenone(DB00700)|Etomidate(DB00292)|Hydrocortisone(DB00741)|Metoclopramide(DB01233)|Metyrapone(DB01011)|Spironolactone(DB00421)	ATCTCTGCCTCTGCCAGGCGC	0.692									Familial Hyperaldosteronism type I																													uc003yxk.1		NA																	0					0						c.(1369-1371)GAG>CAG		cytochrome P450, family 11, subfamily B,	Candesartan(DB00796)|Metyrapone(DB01011)						44.0	51.0	49.0					8																	143993975		2203	4299	6502	SO:0001583	missense	1585	Familial_Hyperaldosteronism_type_I	Familial Cancer Database	Dexamethasone Sensitive Aldosteronism, FH-I	aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|potassium ion homeostasis|regulation of blood volume by renal aldosterone|sodium ion homeostasis|xenobiotic metabolic process		corticosterone 18-monooxygenase activity|electron carrier activity|steroid 11-beta-monooxygenase activity	g.chr8:143993975C>G	X54741	CCDS6393.1	8q21-q22	2013-06-19	2003-01-14		ENSG00000179142	ENSG00000179142	1.14.15.4	"""Cytochrome P450s"""	2592	protein-coding gene	gene with protein product	"""steroid 11-beta-monooxygenase"""	124080	"""cytochrome P450, subfamily XIB (steroid 11-beta-hydroxylase), polypeptide 2"""	CYP11B		1303253	Standard	NM_000498		Approved	CYP11BL, CPN2, P-450C18, P450aldo, ALDOS	uc003yxk.1	P19099	OTTHUMG00000160254	ENST00000323110.2:c.1369G>C	8.37:g.143993975C>G	ENSP00000325822:p.Glu457Gln						p.E457Q	NM_000498	NP_000489	P19099	C11B2_HUMAN			8	1372	-	all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)		457					B0ZBE4|Q16726	Missense_Mutation	SNP	ENST00000323110.2	37	c.1369G>C	CCDS6393.1	.	.	.	.	.	.	.	.	.	.	.	12.29	1.894706	0.33442	.	.	ENSG00000179142	ENST00000323110	T	0.69926	-0.44	3.52	2.63	0.31362	.	0.250311	0.28006	N	0.016976	T	0.69495	0.3117	L	0.45285	1.41	0.25333	N	0.989019	D	0.58620	0.983	P	0.61328	0.887	T	0.59783	-0.7389	10	0.66056	D	0.02	.	8.4852	0.33067	0.0:0.8811:0.0:0.1189	.	457	P19099	C11B2_HUMAN	Q	457	ENSP00000325822:E457Q	ENSP00000325822:E457Q	E	-	1	0	CYP11B2	143990977	0.993000	0.37304	0.015000	0.15790	0.027000	0.11550	3.518000	0.53451	0.793000	0.33875	0.563000	0.77884	GAG		0.692	CYP11B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359904.1			15	69	0	0	0	0	15	69				
ZNF623	9831	broad.mit.edu	37	8	144732148	144732148	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr8:144732148G>A	ENST00000501748.2	+	1	195	c.106G>A	c.(106-108)Gac>Aac	p.D36N	ZNF623_ENST00000458270.2_5'UTR|ZNF623_ENST00000526926.1_5'UTR	NM_014789.3	NP_055604	O75123	ZN623_HUMAN	zinc finger protein 623	36					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(3)|large_intestine(6)|lung(11)|prostate(1)|stomach(1)|urinary_tract(3)	27	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;5.28e-40)|all cancers(56;5.23e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			GACGACGTCAGACAGACTCAC	0.502																																						uc003yzd.2		NA																	0					0						c.(106-108)GAC>AAC		zinc finger protein 623 isoform 1							92.0	85.0	88.0					8																	144732148		2203	4300	6503	SO:0001583	missense	9831				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr8:144732148G>A	AB014528	CCDS34957.1, CCDS47931.1	8q24.3	2013-01-08				ENSG00000183309		"""Zinc fingers, C2H2-type"""	29084	protein-coding gene	gene with protein product						9734811	Standard	NM_014789		Approved	KIAA0628	uc003yzd.2	O75123		ENST00000501748.2:c.106G>A	8.37:g.144732148G>A	ENSP00000445979:p.Asp36Asn					ZNF623_uc011lkp.1_5'UTR|ZNF623_uc003yzc.2_5'UTR	p.D36N	NM_014789	NP_055604	O75123	ZN623_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;5.28e-40)|all cancers(56;5.23e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)		1	195	+	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		36					A4FU80|B4DGP3|E7ENV5	Missense_Mutation	SNP	ENST00000501748.2	37	c.106G>A	CCDS34957.1	.	.	.	.	.	.	.	.	.	.	G	9.902	1.207061	0.22205	.	.	ENSG00000183309	ENST00000532796;ENST00000501748	T	0.06371	3.31	3.76	3.76	0.43208	.	.	.	.	.	T	0.03695	0.0105	N	0.08118	0	0.24922	N	0.991975	B	0.27498	0.18	B	0.24974	0.057	T	0.28618	-1.0038	9	0.72032	D	0.01	-4.0212	7.3805	0.26854	0.1156:0.0:0.8844:0.0	.	36	O75123	ZN623_HUMAN	N	36	ENSP00000445979:D36N	ENSP00000445979:D36N	D	+	1	0	ZNF623	144803291	1.000000	0.71417	0.207000	0.23584	0.008000	0.06430	3.698000	0.54771	2.424000	0.82194	0.655000	0.94253	GAC		0.502	ZNF623-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382522.3	NM_014789		41	74	0	0	0	0	41	74				
EPPK1	83481	broad.mit.edu	37	8	144941431	144941431	+	Silent	SNP	G	G	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr8:144941431G>A	ENST00000525985.1	-	2	6062	c.5991C>T	c.(5989-5991)ctC>ctT	p.L1997L				P58107	EPIPL_HUMAN	epiplakin 1	1997						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CCTTCTCGATGAGCTGCTTCT	0.647																																						uc003zaa.1		NA																	0				pancreas(1)|skin(1)	2						c.(5989-5991)CTC>CTT		epiplakin 1							34.0	38.0	36.0					8																	144941431		2151	4254	6405	SO:0001819	synonymous_variant	83481					cytoplasm|cytoskeleton	protein binding|structural molecule activity	g.chr8:144941431G>A	AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"""epidermal autoantigen 450K"""	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.5991C>T	8.37:g.144941431G>A							p.L1997L	NM_031308	NP_112598	P58107	EPIPL_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		1	6004	-	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		1997			Plectin 33.		Q76E58|Q9NSU9	Silent	SNP	ENST00000525985.1	37	c.5991C>T																																																																																					0.647	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382675.1	NM_031308		11	30	0	0	0	0	11	30				
ZNF16	7564	broad.mit.edu	37	8	146157135	146157135	+	Silent	SNP	C	C	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr8:146157135C>T	ENST00000276816.4	-	4	1224	c.1038G>A	c.(1036-1038)gaG>gaA	p.E346E	ZNF16_ENST00000394909.2_Silent_p.E346E	NM_001029976.2	NP_001025147.2	P17020	ZNF16_HUMAN	zinc finger protein 16	346	Required for nuclear localization.				cell cycle (GO:0007049)|cell division (GO:0051301)|cellular response to sodium dodecyl sulfate (GO:0072707)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell cycle phase transition (GO:1901989)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of kinase activity (GO:0033674)|positive regulation of megakaryocyte differentiation (GO:0045654)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|lung(9)|ovary(5)|prostate(1)|skin(1)|urinary_tract(1)	29	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.136)	Epithelial(56;3.45e-38)|all cancers(56;3.04e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.02)|KIRC - Kidney renal clear cell carcinoma(644;0.0486)		CATACGGTTTCTCCCCAGAAT	0.488																																						uc003zet.2		NA																	0				ovary(5)	5						c.(1036-1038)GAG>GAA		zinc finger protein 16							94.0	95.0	95.0					8																	146157135		2203	4300	6503	SO:0001819	synonymous_variant	7564				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr8:146157135C>T	X52340	CCDS6437.1	8q24	2013-01-08	2006-05-10		ENSG00000170631	ENSG00000170631		"""Zinc fingers, C2H2-type"""	12947	protein-coding gene	gene with protein product		601262	"""zinc finger protein 16 (KOX 9)"""				Standard	NM_006958		Approved	KOX9	uc003zeu.3	P17020	OTTHUMG00000165253	ENST00000276816.4:c.1038G>A	8.37:g.146157135C>T						ZNF16_uc003zeu.2_Silent_p.E346E	p.E346E	NM_001029976	NP_001025147	P17020	ZNF16_HUMAN	Epithelial(56;3.45e-38)|all cancers(56;3.04e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.02)|KIRC - Kidney renal clear cell carcinoma(644;0.0486)	4	1225	-	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.136)	346					B3KXM4|D3DWP2|Q45SH7|Q96FG0|Q9NRA4	Silent	SNP	ENST00000276816.4	37	c.1038G>A	CCDS6437.1																																																																																				0.488	ZNF16-002	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000382978.1	NM_006958		15	81	0	0	0	0	15	81				
SPATA6L	55064	broad.mit.edu	37	9	4605410	4605410	+	Silent	SNP	C	C	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr9:4605410C>T	ENST00000454239.2	-	11	1271	c.1026G>A	c.(1024-1026)aaG>aaA	p.K342K	SPATA6L_ENST00000475086.1_Silent_p.K284K|SPATA6L_ENST00000381895.5_Silent_p.K219K|SPATA6L_ENST00000381890.5_Missense_Mutation_p.R282K			Q8N4H0	SPA6L_HUMAN	spermatogenesis associated 6-like	342																	CATGGATATTCTTCCATGTGG	0.433																																						uc011llz.1		NA																	0					0						c.(850-852)AAG>AAA		hypothetical protein LOC55064							119.0	112.0	114.0					9																	4605410		1913	4140	6053	SO:0001819	synonymous_variant	55064							g.chr9:4605410C>T	AK000920	CCDS43785.1, CCDS43785.2	9p24.2	2012-03-15	2012-03-15	2012-03-15	ENSG00000106686	ENSG00000106686			25472	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 68"""	C9orf68			Standard	NM_001039395		Approved	FLJ10058	uc011llz.2	Q8N4H0	OTTHUMG00000019469	ENST00000454239.2:c.1026G>A	9.37:g.4605410C>T						C9orf68_uc003zik.2_RNA|C9orf68_uc003zil.2_RNA|C9orf68_uc010mhj.2_Silent_p.K342K|C9orf68_uc011lly.1_Silent_p.K219K	p.K284K	NM_001039395	NP_001034484	B4DIY4	B4DIY4_HUMAN		GBM - Glioblastoma multiforme(50;0.0222)	9	1090	-		Breast(48;0.0456)	284					B4DIY4|Q5JVJ5|Q8IY90	Silent	SNP	ENST00000454239.2	37	c.852G>A		.	.	.	.	.	.	.	.	.	.	C	12.72	2.023138	0.35701	.	.	ENSG00000106686	ENST00000381890	T	0.49139	0.79	4.81	4.81	0.61882	.	.	.	.	.	T	0.61160	0.2325	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.63484	-0.6627	6	0.66056	D	0.02	-10.502	13.5649	0.61813	0.0:1.0:0.0:0.0	.	.	.	.	K	282	ENSP00000371314:R282K	ENSP00000371314:R282K	R	-	2	0	C9orf68	4595410	1.000000	0.71417	1.000000	0.80357	0.095000	0.18619	3.303000	0.51858	2.665000	0.90641	0.655000	0.94253	AGA		0.433	SPATA6L-202	KNOWN	basic	protein_coding	protein_coding		NM_017985		20	79	0	0	0	0	20	79				
CNTLN	54875	broad.mit.edu	37	9	17143343	17143343	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr9:17143343C>G	ENST00000380647.3	+	2	502	c.418C>G	c.(418-420)Ctc>Gtc	p.L140V	CNTLN_ENST00000425824.1_Missense_Mutation_p.L140V|CNTLN_ENST00000380641.4_Missense_Mutation_p.L140V|CNTLN_ENST00000484374.1_3'UTR|CNTLN_ENST00000262360.5_Missense_Mutation_p.L140V			Q9NXG0	CNTLN_HUMAN	centlein, centrosomal protein	140					centriole-centriole cohesion (GO:0010457)|protein localization to organelle (GO:0033365)	centriole (GO:0005814)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	phosphorelay sensor kinase activity (GO:0000155)|protein binding, bridging (GO:0030674)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53				GBM - Glioblastoma multiforme(50;6.14e-10)		AAACCCAGATCTCACACAAGT	0.348																																						uc003zmz.2		NA																	0				pancreas(1)	1						c.(418-420)CTC>GTC		centlein isoform 1							159.0	149.0	152.0					9																	17143343		1826	4090	5916	SO:0001583	missense	54875					centriole|membrane	two-component sensor activity	g.chr9:17143343C>G	AK000283	CCDS43789.1, CCDS47953.1	9p22.2-p22.1	2008-11-11	2008-02-08	2008-02-08	ENSG00000044459	ENSG00000044459			23432	protein-coding gene	gene with protein product		611870	"""chromosome 9 open reading frame 101"", ""chromosome 9 open reading frame 39"""	C9orf101, C9orf39		18086554	Standard	XM_005251492		Approved	FLJ20276, bA340N12.1, OTTHUMG00000019597	uc003zmy.3	Q9NXG0	OTTHUMG00000019599	ENST00000380647.3:c.418C>G	9.37:g.17143343C>G	ENSP00000370021:p.Leu140Val					CNTLN_uc003zmx.3_Missense_Mutation_p.L140V|CNTLN_uc003zmy.2_Missense_Mutation_p.L140V|CNTLN_uc003zmw.1_Missense_Mutation_p.L140V	p.L140V	NM_017738	NP_060208	Q9NXG0	CNTLN_HUMAN		GBM - Glioblastoma multiforme(50;6.14e-10)	2	444	+			140					A5Z2X6|Q5VYJ0|Q8N1G9|Q9HAJ5	Missense_Mutation	SNP	ENST00000380647.3	37	c.418C>G	CCDS43789.1	.	.	.	.	.	.	.	.	.	.	C	12.10	1.836521	0.32421	.	.	ENSG00000044459	ENST00000380647;ENST00000425824;ENST00000262360;ENST00000380641	T;T;T;T	0.10763	2.84;2.84;2.84;2.84	6.07	-2.19	0.07015	.	.	.	.	.	T	0.07593	0.0191	L	0.28115	0.83	0.31324	N	0.685665	B;B;B;B	0.31318	0.011;0.011;0.011;0.319	B;B;B;B	0.26416	0.016;0.016;0.01;0.069	T	0.09952	-1.0651	9	0.54805	T	0.06	.	12.5251	0.56081	0.317:0.2122:0.4709:0.0	.	140;140;140;140	C9J1F9;Q9NXG0-2;Q9NXG0-3;B1AMC8	.;.;.;.	V	140	ENSP00000370021:L140V;ENSP00000392798:L140V;ENSP00000262360:L140V;ENSP00000370015:L140V	ENSP00000262360:L140V	L	+	1	0	CNTLN	17133343	1.000000	0.71417	0.936000	0.37596	0.981000	0.71138	0.733000	0.26087	-0.759000	0.04684	-0.165000	0.13383	CTC		0.348	CNTLN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051793.3	NM_017738		5	178	0	0	0	0	5	178				
KIF24	347240	broad.mit.edu	37	9	34290296	34290296	+	Silent	SNP	G	G	A	rs190057600		TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr9:34290296G>A	ENST00000402558.2	-	4	1027	c.1003C>T	c.(1003-1005)Cta>Tta	p.L335L	KIF24_ENST00000379174.3_Intron|KIF24_ENST00000345050.2_Intron|KIF24_ENST00000379166.2_Silent_p.L335L			Q5T7B8	KIF24_HUMAN	kinesin family member 24	335	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|cilium assembly (GO:0042384)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)	centriole (GO:0005814)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(13)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	32			LUSC - Lung squamous cell carcinoma(29;0.0107)			TTGGCAGCTAGAGCATACAAT	0.458																																						uc003zua.3		NA																	0				central_nervous_system(1)	1						c.(1003-1005)CTA>TTA		kinesin family member 24							119.0	110.0	113.0					9																	34290296		1906	4133	6039	SO:0001819	synonymous_variant	347240				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr9:34290296G>A	AK001795	CCDS6551.2	9p13.3	2013-01-10			ENSG00000186638	ENSG00000186638		"""Kinesins"", ""Sterile alpha motif (SAM) domain containing"""	19916	protein-coding gene	gene with protein product		613747	"""chromosome 9 open reading frame 48"""	C9orf48		12477932	Standard	NM_194313		Approved	bA571F15.4, FLJ10933, FLJ43884	uc003zua.4	Q5T7B8	OTTHUMG00000019810	ENST00000402558.2:c.1003C>T	9.37:g.34290296G>A						KIF24_uc010mkb.2_Silent_p.L366L	p.L335L	NM_194313	NP_919289	Q5T7B8	KIF24_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0107)		5	1123	-			335			Kinesin-motor.		Q2TB93|Q5T7B5|Q5T7B7|Q6ZU97|Q6ZUZ2|Q86XZ0|Q9NV43	Silent	SNP	ENST00000402558.2	37	c.1003C>T	CCDS6551.2																																																																																				0.458	KIF24-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052150.5			60	51	0	0	0	0	60	51				
KIF27	55582	broad.mit.edu	37	9	86518637	86518637	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr9:86518637G>C	ENST00000297814.2	-	4	939	c.796C>G	c.(796-798)Caa>Gaa	p.Q266E	KIF27_ENST00000334204.2_Missense_Mutation_p.Q266E|KIF27_ENST00000413982.1_Missense_Mutation_p.Q266E	NM_017576.1	NP_060046.1	Q86VH2	KIF27_HUMAN	kinesin family member 27	266	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|cilium assembly (GO:0042384)|epithelial cilium movement (GO:0003351)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|smoothened signaling pathway (GO:0007224)|ventricular system development (GO:0021591)	cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(7)|lung(17)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	43						CTATTGATTTGAATGGATTCT	0.428																																						uc004ana.2		NA																	0				lung(4)|skin(1)	5						c.(796-798)CAA>GAA		kinesin family member 27							71.0	74.0	73.0					9																	86518637		2203	4300	6503	SO:0001583	missense	55582				cilium assembly|microtubule-based movement	cilium|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr9:86518637G>C	AY237536	CCDS6665.1, CCDS65071.1, CCDS65072.1	9q21.32	2008-03-03			ENSG00000165115	ENSG00000165115		"""Kinesins"""	18632	protein-coding gene	gene with protein product		611253					Standard	NM_017576		Approved	DKFZp434D0917	uc004ana.4	Q86VH2	OTTHUMG00000020109	ENST00000297814.2:c.796C>G	9.37:g.86518637G>C	ENSP00000297814:p.Gln266Glu					KIF27_uc010mpw.2_Missense_Mutation_p.Q266E|KIF27_uc010mpx.2_Missense_Mutation_p.Q266E	p.Q266E	NM_017576	NP_060046	Q86VH2	KIF27_HUMAN			4	940	-			266			Kinesin-motor.		B2RTR8|Q5T6W0|Q86VH0|Q86VH1|Q9UF54	Missense_Mutation	SNP	ENST00000297814.2	37	c.796C>G	CCDS6665.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.044720	0.75732	.	.	ENSG00000165115	ENST00000297814;ENST00000413982;ENST00000334204	T;T;T	0.74106	-0.81;-0.81;-0.81	5.14	5.14	0.70334	Kinesin, motor domain (4);	0.000000	0.56097	D	0.000038	T	0.75057	0.3798	N	0.12961	0.28	0.47183	D	0.999347	P;D;D	0.63046	0.942;0.99;0.992	P;P;D	0.68765	0.573;0.829;0.96	T	0.78303	-0.2256	10	0.56958	D	0.05	.	15.2	0.73130	0.0:0.0:0.859:0.141	.	266;266;266	Q86VH2-3;Q86VH2-2;Q86VH2	.;.;KIF27_HUMAN	E	266	ENSP00000297814:Q266E;ENSP00000401688:Q266E;ENSP00000333928:Q266E	ENSP00000297814:Q266E	Q	-	1	0	KIF27	85708457	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.815000	0.86186	2.657000	0.90304	0.655000	0.94253	CAA		0.428	KIF27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052861.1	NM_017576		30	81	0	0	0	0	30	81				
NTRK2	4915	broad.mit.edu	37	9	87482318	87482318	+	Silent	SNP	C	C	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr9:87482318C>T	ENST00000323115.4	+	12	1910	c.1557C>T	c.(1555-1557)atC>atT	p.I519I	NTRK2_ENST00000376213.1_Silent_p.I519I|NTRK2_ENST00000277120.3_Silent_p.I535I|NTRK2_ENST00000304053.6_Silent_p.I535I|NTRK2_ENST00000376208.1_Silent_p.I519I|NTRK2_ENST00000376214.1_Silent_p.I535I			Q16620	NTRK2_HUMAN	neurotrophic tyrosine kinase, receptor, type 2	519					activation of adenylate cyclase activity (GO:0007190)|aging (GO:0007568)|brain-derived neurotrophic factor receptor signaling pathway (GO:0031547)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|central nervous system neuron development (GO:0021954)|cerebral cortex development (GO:0021987)|circadian rhythm (GO:0007623)|feeding behavior (GO:0007631)|glutamate secretion (GO:0014047)|learning (GO:0007612)|long-term memory (GO:0007616)|long-term synaptic potentiation (GO:0060291)|mechanoreceptor differentiation (GO:0042490)|negative regulation of anoikis (GO:2000811)|negative regulation of neuron apoptotic process (GO:0043524)|neuromuscular junction development (GO:0007528)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oligodendrocyte differentiation (GO:0048709)|peripheral nervous system neuron development (GO:0048935)|positive regulation of axonogenesis (GO:0050772)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|protein autophosphorylation (GO:0046777)|regulation of dendrite development (GO:0050773)|regulation of neurotransmitter secretion (GO:0046928)|regulation of protein kinase B signaling (GO:0051896)|regulation of Rac GTPase activity (GO:0032314)|response to auditory stimulus (GO:0010996)|retinal rod cell development (GO:0046548)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vasculogenesis (GO:0001570)	cell surface (GO:0009986)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|endosome (GO:0005768)|excitatory synapse (GO:0060076)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)|presynaptic active zone (GO:0048786)|receptor complex (GO:0043235)|terminal bouton (GO:0043195)	ATP binding (GO:0005524)|brain-derived neurotrophic factor binding (GO:0048403)|brain-derived neurotrophic factor-activated receptor activity (GO:0060175)|neurotrophin binding (GO:0043121)|protein homodimerization activity (GO:0042803)			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	46					Amitriptyline(DB00321)	ACTTTGGCATCACCAACAGTC	0.453										TSP Lung(25;0.17)																												uc004aoa.1		NA																	0				lung(11)|central_nervous_system(1)|breast(1)|skin(1)|ovary(1)|liver(1)	16						c.(1555-1557)ATC>ATT		neurotrophic tyrosine kinase, receptor, type 2							211.0	179.0	190.0					9																	87482318		2203	4300	6503	SO:0001819	synonymous_variant	4915				activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development	integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein tyrosine kinase activity	g.chr9:87482318C>T	AF410902	CCDS6671.1, CCDS35050.1, CCDS35051.1, CCDS35052.1, CCDS35053.1	9q22.1	2013-01-11			ENSG00000148053	ENSG00000148053	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"""	8032	protein-coding gene	gene with protein product		600456				7789988	Standard	NM_001018065		Approved	TRKB	uc004anz.1	Q16620	OTTHUMG00000020120	ENST00000323115.4:c.1557C>T	9.37:g.87482318C>T		TSP Lung(25;0.17)				NTRK2_uc004any.1_Silent_p.I519I|NTRK2_uc004anz.1_Silent_p.I535I|NTRK2_uc011lsz.1_Silent_p.I535I|NTRK2_uc011lta.1_Silent_p.I519I|NTRK2_uc004aoc.2_Silent_p.I70I	p.I519I	NM_001018064	NP_001018074	Q16620	NTRK2_HUMAN			15	2495	+			519			Cytoplasmic (Potential).		B1ANZ4|B4DFV9|Q16675|Q59GJ1|Q8WXJ5|Q8WXJ6|Q8WXJ7	Silent	SNP	ENST00000323115.4	37	c.1557C>T	CCDS35050.1																																																																																				0.453	NTRK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052882.1			35	93	0	0	0	0	35	93				
NOL8	55035	broad.mit.edu	37	9	95077643	95077643	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr9:95077643C>T	ENST00000535387.1	-	6	1263	c.1264G>A	c.(1264-1266)Gat>Aat	p.D422N	NOL8_ENST00000442668.2_Missense_Mutation_p.D422N|NOL8_ENST00000545558.1_Missense_Mutation_p.D422N|NOL8_ENST00000358855.4_Missense_Mutation_p.D354N|NOL8_ENST00000542053.1_Missense_Mutation_p.D354N					nucleolar protein 8											endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	16						ATACAGTGATCAGAAAGCTCA	0.333																																						uc004arv.2		NA																	0				ovary(1)	1						c.(1264-1266)GAT>AAT		nucleolar protein 8							28.0	25.0	26.0					9																	95077643		1820	4061	5881	SO:0001583	missense	55035				DNA replication|positive regulation of cell growth	nucleolus	nucleotide binding|protein binding|RNA binding	g.chr9:95077643C>T	AB109030	CCDS47993.1, CCDS59135.1	9q22.32	2013-02-12	2004-01-12	2004-01-14	ENSG00000198000	ENSG00000198000		"""RNA binding motif (RRM) containing"""	23387	protein-coding gene	gene with protein product		611534	"""chromosome 9 open reading frame 34"""	C9orf34		12477932	Standard	NM_017948		Approved	FLJ20736, Nop132	uc022bjx.1	Q76FK4	OTTHUMG00000020221	ENST00000535387.1:c.1264G>A	9.37:g.95077643C>T	ENSP00000441300:p.Asp422Asn					NOL8_uc010mqw.2_RNA|NOL8_uc004arw.2_Intron|NOL8_uc011ltw.1_Missense_Mutation_p.D354N	p.D422N	NM_017948	NP_060418	Q76FK4	NOL8_HUMAN			7	1601	-			422						Missense_Mutation	SNP	ENST00000535387.1	37	c.1264G>A	CCDS47993.1	.	.	.	.	.	.	.	.	.	.	C	2.740	-0.262489	0.05791	.	.	ENSG00000198000	ENST00000442668;ENST00000375594;ENST00000358855;ENST00000545558;ENST00000535387;ENST00000542053;ENST00000432670	T;T;T;T;T;T	0.18338	2.5;2.5;2.5;2.71;2.5;2.22	5.69	-1.64	0.08318	.	1.115650	0.06419	N	0.722073	T	0.08980	0.0222	N	0.22421	0.69	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.38650	-0.9651	10	0.14252	T	0.57	-0.0062	3.1232	0.06398	0.0918:0.3722:0.2925:0.2435	.	422	Q76FK4	NOL8_HUMAN	N	422;424;354;422;422;354;422	ENSP00000401177:D422N;ENSP00000351723:D354N;ENSP00000441140:D422N;ENSP00000441300:D422N;ENSP00000440709:D354N;ENSP00000414112:D422N	ENSP00000351723:D354N	D	-	1	0	NOL8	94117464	0.000000	0.05858	0.001000	0.08648	0.047000	0.14425	0.164000	0.16542	-0.320000	0.08640	-0.136000	0.14681	GAT		0.333	NOL8-010	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000053082.2	NM_017948		7	30	0	0	0	0	7	30				
NOL8	55035	broad.mit.edu	37	9	95077919	95077919	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr9:95077919C>T	ENST00000535387.1	-	6	987	c.988G>A	c.(988-990)Gaa>Aaa	p.E330K	NOL8_ENST00000442668.2_Missense_Mutation_p.E330K|NOL8_ENST00000545558.1_Missense_Mutation_p.E330K|NOL8_ENST00000358855.4_Missense_Mutation_p.E262K|NOL8_ENST00000542053.1_Missense_Mutation_p.E262K					nucleolar protein 8											endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	16						GGATCACTTTCAGATTCATTT	0.353																																						uc004arv.2		NA																	0				ovary(1)	1						c.(988-990)GAA>AAA		nucleolar protein 8							64.0	57.0	59.0					9																	95077919		1837	4085	5922	SO:0001583	missense	55035				DNA replication|positive regulation of cell growth	nucleolus	nucleotide binding|protein binding|RNA binding	g.chr9:95077919C>T	AB109030	CCDS47993.1, CCDS59135.1	9q22.32	2013-02-12	2004-01-12	2004-01-14	ENSG00000198000	ENSG00000198000		"""RNA binding motif (RRM) containing"""	23387	protein-coding gene	gene with protein product		611534	"""chromosome 9 open reading frame 34"""	C9orf34		12477932	Standard	NM_017948		Approved	FLJ20736, Nop132	uc022bjx.1	Q76FK4	OTTHUMG00000020221	ENST00000535387.1:c.988G>A	9.37:g.95077919C>T	ENSP00000441300:p.Glu330Lys					NOL8_uc010mqw.2_RNA|NOL8_uc004arw.2_Intron|NOL8_uc011ltw.1_Missense_Mutation_p.E262K	p.E330K	NM_017948	NP_060418	Q76FK4	NOL8_HUMAN			7	1325	-			330						Missense_Mutation	SNP	ENST00000535387.1	37	c.988G>A	CCDS47993.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.274352	0.80580	.	.	ENSG00000198000	ENST00000442668;ENST00000375594;ENST00000358855;ENST00000545558;ENST00000535387;ENST00000542053;ENST00000432670;ENST00000433029	T;T;T;T;T;T;T	0.55930	2.07;2.1;2.07;2.25;2.1;1.78;0.49	5.24	5.24	0.73138	.	0.313297	0.34853	N	0.003625	T	0.54549	0.1865	L	0.34521	1.04	0.37267	D	0.907228	D	0.59767	0.986	P	0.55615	0.78	T	0.62789	-0.6780	10	0.66056	D	0.02	-19.8726	12.2014	0.54328	0.0:0.9219:0.0:0.0781	.	330	Q76FK4	NOL8_HUMAN	K	330;332;262;330;330;262;330;330	ENSP00000401177:E330K;ENSP00000351723:E262K;ENSP00000441140:E330K;ENSP00000441300:E330K;ENSP00000440709:E262K;ENSP00000414112:E330K;ENSP00000412471:E330K	ENSP00000351723:E262K	E	-	1	0	NOL8	94117740	1.000000	0.71417	0.995000	0.50966	0.568000	0.35870	3.365000	0.52335	2.436000	0.82500	0.603000	0.83216	GAA		0.353	NOL8-010	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000053082.2	NM_017948		21	35	0	0	0	0	21	35				
ZNF484	83744	broad.mit.edu	37	9	95610741	95610741	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr9:95610741C>T	ENST00000375495.3	-	5	476	c.328G>A	c.(328-330)Gac>Aac	p.D110N	ANKRD19P_ENST00000473204.1_RNA|ZNF484_ENST00000332591.6_Missense_Mutation_p.D74N|ZNF484_ENST00000395506.3_Missense_Mutation_p.D112N|ZNF484_ENST00000395505.2_Missense_Mutation_p.D74N	NM_031486.2	NP_113674.1	Q5JVG2	ZN484_HUMAN	zinc finger protein 484	110					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|cervix(1)|kidney(8)|large_intestine(10)|lung(10)|prostate(2)	33						GAATATGGGTCATCTCTTGTG	0.353																																						uc004asu.1		NA																	0					0						c.(328-330)GAC>AAC		zinc finger protein 484 isoform a							111.0	112.0	112.0					9																	95610741		2203	4299	6502	SO:0001583	missense	83744				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:95610741C>T	AK091203	CCDS35066.1, CCDS35067.1, CCDS59136.1	9q22.32	2013-01-08			ENSG00000127081	ENSG00000127081		"""Zinc fingers, C2H2-type"", ""-"""	23385	protein-coding gene	gene with protein product							Standard	NM_001007101		Approved	BA526D8.4, FLJ33884	uc004asu.2	Q5JVG2	OTTHUMG00000020236	ENST00000375495.3:c.328G>A	9.37:g.95610741C>T	ENSP00000364645:p.Asp110Asn					ANKRD19_uc004asr.3_Intron|ZNF484_uc011lub.1_Missense_Mutation_p.D112N|ZNF484_uc010mrb.1_Missense_Mutation_p.D74N|ZNF484_uc004asv.1_Missense_Mutation_p.D74N	p.D110N	NM_031486	NP_113674	Q5JVG2	ZN484_HUMAN			5	477	-			110					B1AL89|B4DRI2	Missense_Mutation	SNP	ENST00000375495.3	37	c.328G>A	CCDS35066.1	.	.	.	.	.	.	.	.	.	.	.	4.600	0.111532	0.08831	.	.	ENSG00000127081	ENST00000395505;ENST00000395506;ENST00000375495;ENST00000332591	T;T;T;T	0.07327	3.2;3.39;3.39;3.2	3.47	2.56	0.30785	.	.	.	.	.	T	0.06005	0.0156	L	0.29908	0.895	0.09310	N	1	B;B	0.21071	0.051;0.051	B;B	0.14023	0.01;0.01	T	0.42447	-0.9451	9	0.14656	T	0.56	.	8.7648	0.34696	0.0:0.8844:0.0:0.1156	.	112;110	B4DRI2;Q5JVG2	.;ZN484_HUMAN	N	74;112;110;74	ENSP00000378881:D74N;ENSP00000378882:D112N;ENSP00000364645:D110N;ENSP00000364646:D74N	ENSP00000364646:D74N	D	-	1	0	ZNF484	94650562	0.019000	0.18553	0.042000	0.18584	0.537000	0.34900	0.238000	0.18004	0.805000	0.34159	0.643000	0.83706	GAC		0.353	ZNF484-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000053111.2	XM_046861		39	110	0	0	0	0	39	110				
GABBR2	9568	broad.mit.edu	37	9	101304180	101304180	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr9:101304180G>A	ENST00000259455.2	-	3	1064	c.605C>T	c.(604-606)aCg>aTg	p.T202M	GABBR2_ENST00000477471.1_5'UTR	NM_005458.7	NP_005449.5	O75899	GABR2_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 2	202					G-protein coupled receptor signaling pathway (GO:0007186)|gamma-aminobutyric acid signaling pathway (GO:0007214)|negative regulation of adenylate cyclase activity (GO:0007194)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|G-protein coupled receptor heterodimeric complex (GO:0038039)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	G-protein coupled GABA receptor activity (GO:0004965)		NOTCH1_ENST00000277541/GABBR2(2)	breast(4)|endometrium(4)|large_intestine(12)|lung(21)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	49		Acute lymphoblastic leukemia(62;0.0527)			Baclofen(DB00181)	AACGTCTTGCGTCAGCGTGCC	0.532																																						uc004ays.2		NA																	0				ovary(2)|skin(2)	4						c.(604-606)ACG>ATG		G protein-coupled receptor 51 precursor	Baclofen(DB00181)						156.0	111.0	126.0					9																	101304180		2203	4300	6503	SO:0001583	missense	9568				negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity	g.chr9:101304180G>A	AF069755	CCDS6736.1	9q22.1-q22.3	2012-08-29	2006-02-16	2006-02-16	ENSG00000136928	ENSG00000136928		"""GABA receptors"", ""GPCR / Class C : GABA(B) receptors"""	4507	protein-coding gene	gene with protein product		607340	"""G protein-coupled receptor 51"""	GPR51		10087195	Standard	NM_005458		Approved	HG20, GABABR2, GPRC3B	uc004ays.3	O75899	OTTHUMG00000020345	ENST00000259455.2:c.605C>T	9.37:g.101304180G>A	ENSP00000259455:p.Thr202Met						p.T202M	NM_005458	NP_005449	O75899	GABR2_HUMAN			3	761	-		Acute lymphoblastic leukemia(62;0.0527)	202			Extracellular (Potential).		O75974|O75975|Q5VXZ2|Q8WX04|Q9P1R2|Q9UNR1|Q9UNS9	Missense_Mutation	SNP	ENST00000259455.2	37	c.605C>T	CCDS6736.1	.	.	.	.	.	.	.	.	.	.	G	27.1	4.803976	0.90623	.	.	ENSG00000136928	ENST00000259455	D	0.82711	-1.64	5.09	5.09	0.68999	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.86485	0.5944	L	0.36672	1.1	0.80722	D	1	D	0.76494	0.999	D	0.66847	0.947	D	0.87265	0.2282	10	0.56958	D	0.05	-27.432	16.3412	0.83082	0.0:0.0:1.0:0.0	.	202	O75899	GABR2_HUMAN	M	202	ENSP00000259455:T202M	ENSP00000259455:T202M	T	-	2	0	GABBR2	100344001	1.000000	0.71417	0.982000	0.44146	0.998000	0.95712	9.664000	0.98607	2.538000	0.85594	0.655000	0.94253	ACG		0.532	GABBR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053373.1			9	48	0	0	0	0	9	48				
GALNT12	79695	broad.mit.edu	37	9	101608279	101608279	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr9:101608279G>C	ENST00000375011.3	+	9	1479	c.1479G>C	c.(1477-1479)caG>caC	p.Q493H	RP11-92C4.3_ENST00000589257.1_RNA|RP11-92C4.3_ENST00000433997.1_RNA	NM_024642.4	NP_078918.3	Q8IXK2	GLT12_HUMAN	polypeptide N-acetylgalactosaminyltransferase 12	493	Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			breast(1)|endometrium(2)|large_intestine(3)|lung(8)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	17		Acute lymphoblastic leukemia(62;0.0559)				ACACGTCCCAGAAAGAAATAC	0.483																																						uc004ayz.2		NA																	0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(1477-1479)CAG>CAC		N-acetylgalactosaminyltransferase 12							84.0	73.0	77.0					9																	101608279		2203	4300	6503	SO:0001583	missense	79695					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr9:101608279G>C	AB078146	CCDS6737.1	9q22.33	2014-03-13	2014-03-13		ENSG00000119514	ENSG00000119514	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	19877	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 12"""	610290	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 12 (GalNAc-T12)"""			12135769	Standard	NM_024642		Approved	GalNAc-T12	uc004ayz.3	Q8IXK2	OTTHUMG00000020348	ENST00000375011.3:c.1479G>C	9.37:g.101608279G>C	ENSP00000364150:p.Gln493His						p.Q493H	NM_024642	NP_078918	Q8IXK2	GLT12_HUMAN			9	1479	+		Acute lymphoblastic leukemia(62;0.0559)	493			Ricin B-type lectin.|Lumenal (Potential).		Q5TCF7|Q8NG54|Q96CT9|Q9H771	Missense_Mutation	SNP	ENST00000375011.3	37	c.1479G>C	CCDS6737.1	.	.	.	.	.	.	.	.	.	.	G	7.209	0.595118	0.13875	.	.	ENSG00000119514	ENST00000375011	T	0.29917	1.55	5.84	2.77	0.32553	Ricin B-related lectin (1);Ricin B lectin (3);	0.532351	0.20663	N	0.088000	T	0.11707	0.0285	N	0.05124	-0.11	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.12553	-1.0543	10	0.37606	T	0.19	.	1.6427	0.02756	0.1807:0.1346:0.4855:0.1992	.	493	Q8IXK2	GLT12_HUMAN	H	493	ENSP00000364150:Q493H	ENSP00000364150:Q493H	Q	+	3	2	GALNT12	100648100	0.864000	0.29904	0.713000	0.30519	0.918000	0.54935	0.848000	0.27710	0.821000	0.34540	0.655000	0.94253	CAG		0.483	GALNT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053382.1	NM_024642		11	41	0	0	0	0	11	41				
COL15A1	1306	broad.mit.edu	37	9	101763192	101763192	+	Missense_Mutation	SNP	G	G	C	rs137949756	byFrequency	TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr9:101763192G>C	ENST00000375001.3	+	7	1447	c.1024G>C	c.(1024-1026)Ggc>Cgc	p.G342R		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	342	Nonhelical region 1 (NC1).				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|signal transduction (GO:0007165)	collagen type XV trimer (GO:0005582)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	extracellular matrix structural constituent (GO:0005201)	p.G342S(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				TACTGACAGCGGCTCAGGGGC	0.468											OREG0019364	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc004azb.1		NA																	1	Substitution - Missense(1)	p.G342S(1)	ovary(1)	ovary(6)	6						c.(1024-1026)GGC>CGC		alpha 1 type XV collagen precursor							83.0	76.0	78.0					9																	101763192		2203	4300	6503	SO:0001583	missense	1306				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding	g.chr9:101763192G>C	L25286	CCDS35081.1	9q21-q22	2013-01-16			ENSG00000204291	ENSG00000204291		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"""	2192	protein-coding gene	gene with protein product	"""collagen type XV proteoglycan"""	120325				1427836	Standard	NM_001855		Approved		uc004azb.2	P39059	OTTHUMG00000020351	ENST00000375001.3:c.1024G>C	9.37:g.101763192G>C	ENSP00000364140:p.Gly342Arg		OREG0019364	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1361		p.G342R	NM_001855	NP_001846	P39059	COFA1_HUMAN			7	1230	+		Acute lymphoblastic leukemia(62;0.0562)	342			Nonhelical region 1 (NC1).		Q5T6J4|Q9UDC5|Q9Y4W4	Missense_Mutation	SNP	ENST00000375001.3	37	c.1024G>C	CCDS35081.1	.	.	.	.	.	.	.	.	.	.	G	11.82	1.751925	0.31046	.	.	ENSG00000204291	ENST00000375001;ENST00000536083	D	0.91843	-2.92	4.62	2.79	0.32731	.	1.854780	0.02430	N	0.083495	D	0.93367	0.7885	L	0.34521	1.04	0.26600	N	0.973041	D	0.89917	1.0	D	0.87578	0.998	T	0.82208	-0.0571	10	0.30854	T	0.27	-4.6285	7.2781	0.26296	0.1986:0.0:0.8014:0.0	.	342	P39059	COFA1_HUMAN	R	342;312	ENSP00000364140:G342R	ENSP00000364140:G342R	G	+	1	0	COL15A1	100803013	0.994000	0.37717	0.907000	0.35723	0.039000	0.13416	2.717000	0.47227	0.689000	0.31550	-0.768000	0.03414	GGC		0.468	COL15A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053386.3	NM_001855		20	54	0	0	0	0	20	54				
OR13C3	138803	broad.mit.edu	37	9	107298345	107298345	+	Silent	SNP	G	G	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr9:107298345G>A	ENST00000374781.2	-	1	792	c.750C>T	c.(748-750)ttC>ttT	p.F250F		NM_001001961.1	NP_001001961.1	Q8NGS6	O13C3_HUMAN	olfactory receptor, family 13, subfamily C, member 3	250						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(1)|skin(1)	19						TGTAGAGGATGAACATATAGG	0.428																																					GBM(86;1248 1274 14222 15028 46219)	uc004bcb.1		NA																	0				pancreas(1)	1						c.(748-750)TTC>TTT		olfactory receptor, family 13, subfamily C,							93.0	92.0	92.0					9																	107298345		2203	4300	6503	SO:0001819	synonymous_variant	138803				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:107298345G>A		CCDS35089.1	9q31.1	2013-09-24			ENSG00000204246	ENSG00000204246		"""GPCR / Class A : Olfactory receptors"""	14704	protein-coding gene	gene with protein product							Standard	NM_001001961		Approved		uc004bcb.1	Q8NGS6	OTTHUMG00000020406	ENST00000374781.2:c.750C>T	9.37:g.107298345G>A							p.F250F	NM_001001961	NP_001001961	Q8NGS6	O13C3_HUMAN			1	750	-			250			Cytoplasmic (Potential).		Q5VVG1|Q6IF52	Silent	SNP	ENST00000374781.2	37	c.750C>T	CCDS35089.1																																																																																				0.428	OR13C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053477.2			37	81	0	0	0	0	37	81				
OR13D1	286365	broad.mit.edu	37	9	107456838	107456838	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr9:107456838C>G	ENST00000318763.5	+	1	179	c.136C>G	c.(136-138)Ctg>Gtg	p.L46V		NM_001004484.1	NP_001004484.1	Q8NGV5	O13D1_HUMAN	olfactory receptor, family 13, subfamily D, member 1	46						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(4)|lung(10)|ovary(1)|prostate(2)|skin(2)	19						TGAATTCTTTCTGGTGGGGCT	0.438																																						uc011lvs.1		NA																	0				ovary(1)|skin(1)	2						c.(136-138)CTG>GTG		olfactory receptor, family 13, subfamily D,							67.0	68.0	67.0					9																	107456838		2203	4300	6503	SO:0001583	missense	286365				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:107456838C>G		CCDS35094.1	9q31.1	2013-09-24			ENSG00000179055	ENSG00000179055		"""GPCR / Class A : Olfactory receptors"""	14695	protein-coding gene	gene with protein product							Standard	NM_001004484		Approved		uc011lvs.2	Q8NGV5	OTTHUMG00000020412	ENST00000318763.5:c.136C>G	9.37:g.107456838C>G	ENSP00000317357:p.Leu46Val						p.L46V	NM_001004484	NP_001004484	Q8NGV5	O13D1_HUMAN			1	136	+			46			Extracellular (Potential).		B9EIS1|Q6IFL1	Missense_Mutation	SNP	ENST00000318763.5	37	c.136C>G	CCDS35094.1	.	.	.	.	.	.	.	.	.	.	C	12.96	2.095784	0.36952	.	.	ENSG00000179055	ENST00000318763	T	0.00563	6.58	3.75	1.81	0.25067	.	0.000000	0.40469	N	0.001095	T	0.02047	0.0064	H	0.94925	3.6	0.23320	N	0.997911	D	0.89917	1.0	P	0.62491	0.903	T	0.39014	-0.9634	10	0.87932	D	0	.	3.1063	0.06342	0.2119:0.557:0.0:0.2311	.	46	Q8NGV5	O13D1_HUMAN	V	46	ENSP00000317357:L46V	ENSP00000317357:L46V	L	+	1	2	OR13D1	106496659	0.000000	0.05858	0.996000	0.52242	0.709000	0.40893	-0.157000	0.10085	0.237000	0.21200	0.609000	0.83330	CTG		0.438	OR13D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053483.1			27	69	0	0	0	0	27	69				
AKAP2	11217	broad.mit.edu	37	9	112899402	112899402	+	Silent	SNP	C	C	G			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr9:112899402C>G	ENST00000259318.7	+	2	1092	c.885C>G	c.(883-885)ctC>ctG	p.L295L	PALM2-AKAP2_ENST00000302798.7_Silent_p.L526L|AKAP2_ENST00000374525.1_Silent_p.L384L|AKAP2_ENST00000510514.5_Silent_p.L526L|AKAP2_ENST00000555236.1_Silent_p.L526L|AKAP2_ENST00000434623.2_Silent_p.L384L|PALM2-AKAP2_ENST00000374530.3_Silent_p.L526L	NM_001136562.2	NP_001130034.1	Q9Y2D5	AKAP2_HUMAN	A kinase (PRKA) anchor protein 2	295										breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	33						CATCGCAGCTCTGCACAGCCC	0.527																																						uc004bei.2		NA																	0				ovary(3)|central_nervous_system(2)|skin(1)	6						c.(2272-2274)CTC>CTG		A kinase (PRKA) anchor protein 2 isoform 2							16.0	14.0	15.0					9																	112899402		2156	4242	6398	SO:0001819	synonymous_variant	445815						enzyme binding	g.chr9:112899402C>G	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.885C>G	9.37:g.112899402C>G						PALM2-AKAP2_uc004bek.3_Silent_p.L526L|PALM2-AKAP2_uc004bej.3_Silent_p.L526L|PALM2-AKAP2_uc004bel.1_Silent_p.L336L|AKAP2_uc011lwi.1_Silent_p.L384L|AKAP2_uc004bem.2_Silent_p.L384L|PALM2-AKAP2_uc010mtw.1_Silent_p.L344L|AKAP2_uc011lwj.1_Silent_p.L295L|PALM2-AKAP2_uc004ben.2_Silent_p.L295L	p.L758L	NM_001136562	NP_001130034	Q9Y2D5	AKAP2_HUMAN			9	2466	+			295					B1ALX9|B2RTU4|B3KQ00|B4DTZ2|B7ZW07|B9EJB5|Q9UG26	Silent	SNP	ENST00000259318.7	37	c.2274C>G	CCDS48003.1																																																																																				0.527	AKAP2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000346067.3	NM_001004065		10	22	0	0	0	0	10	22				
SUSD1	64420	broad.mit.edu	37	9	114875121	114875121	+	Nonsense_Mutation	SNP	G	G	C			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr9:114875121G>C	ENST00000374270.3	-	7	1086	c.914C>G	c.(913-915)tCa>tGa	p.S305*	SUSD1_ENST00000374263.3_Nonsense_Mutation_p.S305*|SUSD1_ENST00000374264.2_Nonsense_Mutation_p.S305*	NM_022486.3	NP_071931.2	Q6UWL2	SUSD1_HUMAN	sushi domain containing 1	305						integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)		SUSD1/ROD1(2)	central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						ATTAAACAGTGATACATCATT	0.343																																						uc004bfu.2		NA																	0					0						c.(913-915)TCA>TGA		sushi domain containing 1 precursor							159.0	152.0	154.0					9																	114875121		2203	4299	6502	SO:0001587	stop_gained	64420					integral to membrane	calcium ion binding	g.chr9:114875121G>C	AL137432	CCDS6783.1, CCDS65105.1, CCDS65106.1	9q31.3-q33.1	2008-02-05			ENSG00000106868	ENSG00000106868			25413	protein-coding gene	gene with protein product						12975309	Standard	NM_022486		Approved	DKFZP761E1824	uc004bfu.3	Q6UWL2	OTTHUMG00000020499	ENST00000374270.3:c.914C>G	9.37:g.114875121G>C	ENSP00000363388:p.Ser305*					SUSD1_uc010mui.2_Nonsense_Mutation_p.S305*|SUSD1_uc010muj.2_Nonsense_Mutation_p.S305*	p.S305*	NM_022486	NP_071931	Q6UWL2	SUSD1_HUMAN			7	955	-			305			Extracellular (Potential).		A1A4C5|A8KA03|Q5T8V6|Q5T8V7|Q6P9G7|Q8WU83|Q96DM9|Q9H6V2|Q9NTA7	Nonsense_Mutation	SNP	ENST00000374270.3	37	c.914C>G	CCDS6783.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	11.42|11.42|11.42	1.632284|1.632284|1.632284	0.29068|0.29068|0.29068	.|.|.	.|.|.	ENSG00000106868|ENSG00000106868|ENSG00000106868	ENST00000415074|ENST00000355396|ENST00000374270;ENST00000374263;ENST00000374264	.|.|.	.|.|.	.|.|.	5.46|5.46|5.46	-0.115|-0.115|-0.115	0.13560|0.13560|0.13560	.|.|.	.|.|0.830989	.|.|0.10088	.|.|N	.|.|0.717557	T|T|.	0.22859|0.22859|.	0.0552|0.0552|.	.|.|.	.|.|.	.|.|.	0.80722|0.80722|0.80722	A|A|A	1|1|1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	T|T|.	0.30238|0.30238|.	-0.9985|-0.9985|.	3|3|.	.|.|0.32370	.|.|T	.|.|0.25	-0.0057|-0.0057|-0.0057	1.5993|1.5993|1.5993	0.02671|0.02671|0.02671	0.2601:0.1383:0.4593:0.1423|0.2601:0.1383:0.4593:0.1423|0.2601:0.1383:0.4593:0.1423	.|.|.	.|.|.	.|.|.	.|.|.	D|M|X	119|288|305	.|.|.	.|.|ENSP00000363381:S305X	H|I|S	-|-|-	1|3|2	0|3|0	SUSD1|SUSD1|SUSD1	113914942|113914942|113914942	0.000000|0.000000|0.000000	0.05858|0.05858|0.05858	0.001000|0.001000|0.001000	0.08648|0.08648|0.08648	0.002000|0.002000|0.002000	0.02628|0.02628|0.02628	0.260000|0.260000|0.260000	0.18424|0.18424|0.18424	-0.205000|-0.205000|-0.205000	0.10219|0.10219|0.10219	-0.890000|-0.890000|-0.890000	0.02929|0.02929|0.02929	CAC|ATC|TCA		0.343	SUSD1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053668.3	NM_022486		23	52	0	0	0	0	23	52				
FKBP15	23307	broad.mit.edu	37	9	115952852	115952852	+	Missense_Mutation	SNP	C	C	T	rs375150301		TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr9:115952852C>T	ENST00000238256.3	-	12	1189	c.1072G>A	c.(1072-1074)Gat>Aat	p.D358N		NM_015258.1	NP_056073.1	Q5T1M5	FKB15_HUMAN	FK506 binding protein 15, 133kDa	358					endocytosis (GO:0006897)|negative regulation of phosphatase activity (GO:0010923)|protein folding (GO:0006457)	actin filament (GO:0005884)|axon (GO:0030424)|endosome (GO:0005768)|growth cone (GO:0030426)|membrane (GO:0016020)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(9)|ovary(3)|urinary_tract(1)	26						TTGACTGCATCGGGACTCTAA	0.458													C|||	1	0.000199681	0.0	0.0	5008	,	,		18471	0.0		0.0	False		,,,				2504	0.001					uc004bgs.2		NA																	0				ovary(3)	3						c.(1072-1074)GAT>AAT		FK506 binding protein 15, 133kDa		C	ASN/ASP	0,3818		0,0,1909	57.0	53.0	54.0		1072	6.2	1.0	9		54	1,8241		0,1,4120	no	missense	FKBP15	NM_015258.1	23	0,1,6029	TT,TC,CC		0.0121,0.0,0.0083	probably-damaging	358/1220	115952852	1,12059	1909	4121	6030	SO:0001583	missense	23307				endocytosis|protein folding	axon|early endosome	actin binding	g.chr9:115952852C>T	AB014574	CCDS48007.1	9q33.1	2014-05-09	2006-10-31	2006-10-31	ENSG00000119321	ENSG00000119321		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	23397	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 76"", ""WASP and FKBP-like protein"""		"""KIAA0674"""	KIAA0674		16756961, 20376207	Standard	NM_015258		Approved	PPP1R76, FKBP133, WAFL	uc004bgs.2	Q5T1M5	OTTHUMG00000020518	ENST00000238256.3:c.1072G>A	9.37:g.115952852C>T	ENSP00000238256:p.Asp358Asn					FKBP15_uc010muu.1_Missense_Mutation_p.D422N|FKBP15_uc011lxc.1_5'Flank|FKBP15_uc011lxd.1_Missense_Mutation_p.D290N|FKBP15_uc010mut.1_Missense_Mutation_p.D226N|FKBP15_uc004bgt.2_Missense_Mutation_p.D358N	p.D358N	NM_015258	NP_056073	Q5T1M5	FKB15_HUMAN			12	1190	-			358					Q05DK8|Q5T1M2|Q6DD85|Q9Y4D0	Missense_Mutation	SNP	ENST00000238256.3	37	c.1072G>A	CCDS48007.1	.	.	.	.	.	.	.	.	.	.	C	28.4	4.915036	0.92178	0.0	1.21E-4	ENSG00000119321	ENST00000446284;ENST00000238256;ENST00000414250	T;T;T	0.39406	1.36;1.38;1.08	6.16	6.16	0.99307	.	.	.	.	.	T	0.66025	0.2748	M	0.70275	2.135	0.51482	D	0.999921	D;D;D	0.89917	1.0;0.982;1.0	D;P;D	0.91635	0.999;0.496;0.998	T	0.64939	-0.6289	9	0.62326	D	0.03	-20.3927	18.3537	0.90348	0.0:1.0:0.0:0.0	.	358;358;358	Q5T1M5-2;Q5T1M5-3;Q5T1M5	.;.;FKB15_HUMAN	N	383;358;383	ENSP00000416158:D383N;ENSP00000238256:D358N;ENSP00000415733:D383N	ENSP00000238256:D358N	D	-	1	0	FKBP15	114992673	1.000000	0.71417	1.000000	0.80357	0.642000	0.38348	5.481000	0.66826	2.937000	0.99478	0.650000	0.86243	GAT		0.458	FKBP15-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_015258		5	6	0	0	0	0	5	6				
TNC	3371	broad.mit.edu	37	9	117848518	117848518	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr9:117848518C>T	ENST00000350763.4	-	3	1903	c.1492G>A	c.(1492-1494)Gat>Aat	p.D498N	TNC_ENST00000345230.3_Missense_Mutation_p.D498N|TNC_ENST00000423613.2_Missense_Mutation_p.D498N|TNC_ENST00000537320.1_Missense_Mutation_p.D498N|TNC_ENST00000341037.4_Missense_Mutation_p.D498N|TNC_ENST00000542877.1_Missense_Mutation_p.D498N|TNC_ENST00000340094.3_Missense_Mutation_p.D498N|TNC_ENST00000346706.3_Missense_Mutation_p.D498N|TNC_ENST00000535648.1_Missense_Mutation_p.D498N	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	498	EGF-like 12. {ECO:0000255|PROSITE- ProRule:PRU00076}.				bud outgrowth involved in lung branching (GO:0060447)|cell adhesion (GO:0007155)|cellular response to prostaglandin D stimulus (GO:0071799)|cellular response to retinoic acid (GO:0071300)|cellular response to vitamin D (GO:0071305)|extracellular matrix organization (GO:0030198)|mesenchymal-epithelial cell signaling involved in prostate gland development (GO:0060739)|negative regulation of cell adhesion (GO:0007162)|neuromuscular junction development (GO:0007528)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|peripheral nervous system axon regeneration (GO:0014012)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|prostate gland epithelium morphogenesis (GO:0060740)|response to ethanol (GO:0045471)|response to fibroblast growth factor (GO:0071774)|response to mechanical stimulus (GO:0009612)|response to wounding (GO:0009611)|wound healing (GO:0042060)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|interstitial matrix (GO:0005614)|membrane (GO:0016020)	syndecan binding (GO:0045545)			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						CATTGGCGATCCCGGCAGTCT	0.602																																						uc004bjj.3		NA																	0				central_nervous_system(4)|upper_aerodigestive_tract(1)|ovary(1)|skin(1)	7						c.(1492-1494)GAT>AAT		tenascin C precursor							121.0	115.0	117.0					9																	117848518		2203	4300	6503	SO:0001583	missense	3371				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding	g.chr9:117848518C>T		CCDS6811.1	9q33.1	2014-01-28	2008-07-31	2002-06-07	ENSG00000041982	ENSG00000041982		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	5318	protein-coding gene	gene with protein product	"""hexabrachion (tenascin)"""	187380	"""hexabrachion (tenascin C, cytotactin)"", ""deafness, autosomal dominant 56"""	HXB, DFNA56		1704365, 1707164, 23936043	Standard	NM_002160		Approved	TN, MGC167029	uc004bjj.4	P24821	OTTHUMG00000021010	ENST00000350763.4:c.1492G>A	9.37:g.117848518C>T	ENSP00000265131:p.Asp498Asn					TNC_uc010mvf.2_Missense_Mutation_p.D498N	p.D498N	NM_002160	NP_002151	P24821	TENA_HUMAN			3	1854	-			498			EGF-like 12.		C9IYT7|C9J575|C9J6D9|C9J848|Q14583|Q15567|Q5T7S3	Missense_Mutation	SNP	ENST00000350763.4	37	c.1492G>A	CCDS6811.1	.	.	.	.	.	.	.	.	.	.	C	15.32	2.798947	0.50208	.	.	ENSG00000041982	ENST00000340094;ENST00000535648;ENST00000346706;ENST00000345230;ENST00000350763;ENST00000442945;ENST00000341037;ENST00000423613;ENST00000537320;ENST00000542877	T;T;T;T;T;T;T;T;T	0.03496	3.91;3.91;3.91;3.91;3.91;3.91;3.91;3.91;3.91	5.82	5.82	0.92795	.	0.539978	0.22358	N	0.061103	T	0.06872	0.0175	L	0.38175	1.15	0.27866	N	0.94021	P;B	0.36789	0.57;0.286	B;B	0.40602	0.334;0.199	T	0.08659	-1.0711	10	0.56958	D	0.05	.	20.08	0.97768	0.0:1.0:0.0:0.0	.	498;498	E9PC84;P24821	.;TENA_HUMAN	N	498	ENSP00000344400:D498N;ENSP00000438152:D498N;ENSP00000344555:D498N;ENSP00000345861:D498N;ENSP00000265131:D498N;ENSP00000339553:D498N;ENSP00000411406:D498N;ENSP00000443478:D498N;ENSP00000442242:D498N	ENSP00000344400:D498N	D	-	1	0	TNC	116888339	0.967000	0.33354	0.860000	0.33809	0.443000	0.32047	2.886000	0.48578	2.753000	0.94483	0.462000	0.41574	GAT		0.602	TNC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055418.2	NM_002160		43	140	0	0	0	0	43	140				
CNTRL	11064	broad.mit.edu	37	9	123924347	123924347	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr9:123924347G>C	ENST00000373855.1	+	34	5481	c.5221G>C	c.(5221-5223)Gag>Cag	p.E1741Q	CNTRL_ENST00000373850.1_Missense_Mutation_p.E1189Q|CNTRL_ENST00000373845.2_3'UTR|CNTRL_ENST00000238341.5_Missense_Mutation_p.E1741Q			Q7Z7A1	CNTRL_HUMAN	centriolin	1741					cell division (GO:0051301)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)				haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3)	20						ACTGGAGTTAGAGAATTTGCA	0.413																																						uc004bkx.1		NA																	0					0						c.(5221-5223)GAG>CAG		centrosomal protein 110kDa							73.0	76.0	75.0					9																	123924347		2203	4300	6503	SO:0001583	missense	11064				cell division|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein binding	g.chr9:123924347G>C	AF513978	CCDS35118.1	9q33.2	2014-02-20	2011-05-23	2011-05-23	ENSG00000119397	ENSG00000119397			1858	protein-coding gene	gene with protein product		605496	"""centrosomal protein 1"", ""centrosomal protein 110kDa"""	CEP1, CEP110		10688839	Standard	XM_005251679		Approved		uc004bkx.1	Q7Z7A1	OTTHUMG00000020581	ENST00000373855.1:c.5221G>C	9.37:g.123924347G>C	ENSP00000362962:p.Glu1741Gln					CEP110_uc004blb.1_Missense_Mutation_p.E410Q|CEP110_uc010mvp.1_Intron	p.E1741Q	NM_007018	NP_008949	Q7Z7A1	CNTRL_HUMAN			32	5252	+			1741			Potential.		A2A2Y1|B2RP67|Q3MN79|Q5FWF8|Q5JVD0|Q6MZR3|Q6PKC1|Q8TEP3|Q9Y489	Missense_Mutation	SNP	ENST00000373855.1	37	c.5221G>C	CCDS35118.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.516040	0.85495	.	.	ENSG00000119397	ENST00000373855;ENST00000238341;ENST00000454238;ENST00000439778;ENST00000373850;ENST00000373845	T;T;T	0.32023	1.47;1.47;1.47	5.89	5.89	0.94794	.	.	.	.	.	T	0.52773	0.1755	L	0.54323	1.7	0.51482	D	0.999928	D	0.76494	0.999	D	0.80764	0.994	T	0.35599	-0.9782	9	0.39692	T	0.17	.	19.2443	0.93896	0.0:0.0:1.0:0.0	.	1741	Q7Z7A1	CNTRL_HUMAN	Q	1741;1741;1741;497;1189;423	ENSP00000362962:E1741Q;ENSP00000238341:E1741Q;ENSP00000362956:E1189Q	ENSP00000238341:E1741Q	E	+	1	0	CNTRL	122964168	1.000000	0.71417	0.981000	0.43875	0.990000	0.78478	5.128000	0.64733	2.797000	0.96272	0.563000	0.77884	GAG		0.413	CNTRL-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250216.1	NM_007018		20	70	0	0	0	0	20	70				
TTLL11	158135	broad.mit.edu	37	9	124794104	124794104	+	Silent	SNP	C	C	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr9:124794104C>T	ENST00000373776.3	-	3	1048	c.861G>A	c.(859-861)ctG>ctA	p.L287L	TTLL11_ENST00000321582.5_Silent_p.L287L|TTLL11_ENST00000474723.1_Intron	NM_194252.2	NP_919228.2	Q8NHH1	TTL11_HUMAN	tubulin tyrosine ligase-like family, member 11	287	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				cellular protein modification process (GO:0006464)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	ligase activity (GO:0016874)			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(3)|skin(1)	18						CTGCTCTGCTCAGAGTAATTT	0.478																																						uc004blt.1		NA																	0					0						c.(859-861)CTG>CTA		tubulin tyrosine ligase-like family, member 11							140.0	127.0	131.0					9																	124794104		2203	4300	6503	SO:0001819	synonymous_variant	158135				protein modification process	cilium|microtubule basal body	tubulin-tyrosine ligase activity	g.chr9:124794104C>T	AF521886	CCDS6834.2, CCDS48012.1	9q34.11	2013-02-14	2005-07-28	2005-07-28	ENSG00000175764	ENSG00000175764		"""Tubulin tyrosine ligase-like family"""	18113	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 20"""	C9orf20		15890843	Standard	NM_001139442		Approved	bA244O19.1	uc011lyl.2	Q8NHH1	OTTHUMG00000020597	ENST00000373776.3:c.861G>A	9.37:g.124794104C>T						TTLL11_uc011lyl.1_Silent_p.L287L|TTLL11_uc004blr.2_Intron|TTLL11_uc011lym.1_Intron|TTLL11_uc004blu.1_Intron	p.L287L	NM_194252	NP_919228	Q8NHH1	TTL11_HUMAN			3	1049	-			287			TTL.			Silent	SNP	ENST00000373776.3	37	c.861G>A	CCDS6834.2																																																																																				0.478	TTLL11-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053907.1	XM_088486		32	99	0	0	0	0	32	99				
RABEPK	10244	broad.mit.edu	37	9	127990317	127990317	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr9:127990317G>A	ENST00000373538.3	+	6	965	c.655G>A	c.(655-657)Gac>Aac	p.D219N	RABEPK_ENST00000394125.4_Missense_Mutation_p.D219N|RABEPK_ENST00000394124.4_3'UTR|RABEPK_ENST00000259460.8_Missense_Mutation_p.D168N	NM_005833.3	NP_005824.2	Q7Z6M1	RABEK_HUMAN	Rab9 effector protein with kelch motifs	219					receptor-mediated endocytosis (GO:0006898)|vesicle docking involved in exocytosis (GO:0006904)	endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)				NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15						ATTCTATGATGACCTCCACTG	0.443																																						uc004bpi.2		NA																	0				ovary(1)	1						c.(655-657)GAC>AAC		Rab9 effector protein with kelch motifs							53.0	53.0	53.0					9																	127990317		2203	4300	6503	SO:0001583	missense	10244				receptor-mediated endocytosis|vesicle docking involved in exocytosis	endosome membrane|plasma membrane		g.chr9:127990317G>A	BC000503	CCDS6862.1, CCDS55341.1	9q33.1-q33.3	2010-04-19			ENSG00000136933	ENSG00000136933			16896	protein-coding gene	gene with protein product		605962				9230071	Standard	NM_005833		Approved	RAB9P40, bA65N13.1	uc004bpi.3	Q7Z6M1	OTTHUMG00000020674	ENST00000373538.3:c.655G>A	9.37:g.127990317G>A	ENSP00000362639:p.Asp219Asn					RABEPK_uc004bpj.2_Missense_Mutation_p.D168N|RABEPK_uc004bpk.2_Missense_Mutation_p.D219N|RABEPK_uc004bpl.1_Missense_Mutation_p.D168N|RABEPK_uc004bpm.2_Missense_Mutation_p.D219N	p.D219N	NM_005833	NP_005824	Q7Z6M1	RABEK_HUMAN			7	828	+			219			Kelch 4.		A8K403|O00568|Q69YR2|Q6FHA4|Q6IBG7|Q6P092|Q86Y76|Q9BWB1	Missense_Mutation	SNP	ENST00000373538.3	37	c.655G>A	CCDS6862.1	.	.	.	.	.	.	.	.	.	.	G	31	5.094778	0.94197	.	.	ENSG00000136933	ENST00000394125;ENST00000259460;ENST00000373538	T;T;T	0.77620	-1.11;-1.11;-1.11	5.13	5.13	0.70059	Kelch-type beta propeller (1);	0.132116	0.64402	D	0.000002	D	0.84629	0.5514	M	0.92077	3.27	0.80722	D	1	B;P;B	0.34562	0.008;0.457;0.008	B;B;B	0.37239	0.015;0.244;0.015	D	0.87080	0.2165	10	0.62326	D	0.03	-11.9719	17.9158	0.88950	0.0:0.0:1.0:0.0	.	219;168;219	A8K403;Q7Z6M1-2;Q7Z6M1	.;.;RABEK_HUMAN	N	219;168;219	ENSP00000377683:D219N;ENSP00000259460:D168N;ENSP00000362639:D219N	ENSP00000259460:D168N	D	+	1	0	RABEPK	127030138	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	8.870000	0.92336	2.711000	0.92665	0.632000	0.83419	GAC		0.443	RABEPK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054064.1	NM_005833		13	26	0	0	0	0	13	26				
LRSAM1	90678	broad.mit.edu	37	9	130263396	130263396	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr9:130263396G>C	ENST00000323301.4	+	24	2624	c.2020G>C	c.(2020-2022)Gag>Cag	p.E674Q	LRSAM1_ENST00000373324.4_Missense_Mutation_p.E647Q|LRSAM1_ENST00000300417.6_Missense_Mutation_p.E674Q|LRSAM1_ENST00000483302.1_3'UTR|LRSAM1_ENST00000373322.1_Missense_Mutation_p.E674Q	NM_138361.5	NP_612370.3	Q6UWE0	LRSM1_HUMAN	leucine rich repeat and sterile alpha motif containing 1	674					cell death (GO:0008219)|negative regulation of endocytosis (GO:0045806)|protein autoubiquitination (GO:0051865)|protein catabolic process (GO:0030163)|protein polyubiquitination (GO:0000209)|ubiquitin-dependent endocytosis (GO:0070086)|viral budding (GO:0046755)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(2)	16						GCAGGCCTCAGAGTGTGTCGT	0.662																																						uc004brb.1		NA																	0					0						c.(2020-2022)GAG>CAG		leucine rich repeat and sterile alpha motif							57.0	55.0	55.0					9																	130263396		2203	4300	6503	SO:0001583	missense	90678				negative regulation of endocytosis|non-lytic virus budding|protein autoubiquitination|protein catabolic process|protein polyubiquitination|protein transport|ubiquitin-dependent endocytosis	cytoplasm|extracellular region|membrane part	hormone activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr9:130263396G>C	AK056203	CCDS6873.1, CCDS55347.1	9q34.13	2014-09-17			ENSG00000148356	ENSG00000148356		"""Sterile alpha motif (SAM) domain containing"""	25135	protein-coding gene	gene with protein product		610933				12975309	Standard	NM_001005373		Approved	FLJ31641	uc004brd.2	Q6UWE0	OTTHUMG00000020701	ENST00000323301.4:c.2020G>C	9.37:g.130263396G>C	ENSP00000322937:p.Glu674Gln					LRSAM1_uc010mxk.1_Missense_Mutation_p.E647Q|LRSAM1_uc004brc.1_Missense_Mutation_p.E674Q|LRSAM1_uc004brd.1_Missense_Mutation_p.E674Q|LRSAM1_uc004bre.1_Missense_Mutation_p.E254Q|LRSAM1_uc004brg.1_Missense_Mutation_p.E105Q	p.E674Q	NM_001005373	NP_001005373	Q6UWE0	LRSM1_HUMAN			25	2365	+			674					Q5VVV0|Q8NB40|Q96GT5|Q96MX5|Q96MZ7	Missense_Mutation	SNP	ENST00000323301.4	37	c.2020G>C	CCDS6873.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.277910	0.80692	.	.	ENSG00000148356	ENST00000300417;ENST00000373324;ENST00000323301;ENST00000373322	T;T;T;T	0.79033	-1.23;-1.23;-1.23;-1.23	5.11	5.11	0.69529	Zinc finger, RING/FYVE/PHD-type (1);	0.000000	0.85682	D	0.000000	D	0.87621	0.6223	M	0.76727	2.345	0.52501	D	0.999959	D;D	0.89917	1.0;0.999	D;D	0.85130	0.997;0.996	D	0.89104	0.3491	10	0.87932	D	0	-16.4953	16.0453	0.80717	0.0:0.0:1.0:0.0	.	647;674	Q6UWE0-2;Q6UWE0	.;LRSM1_HUMAN	Q	674;647;674;674	ENSP00000300417:E674Q;ENSP00000362421:E647Q;ENSP00000322937:E674Q;ENSP00000362419:E674Q	ENSP00000300417:E674Q	E	+	1	0	LRSAM1	129303217	1.000000	0.71417	0.145000	0.22337	0.910000	0.53928	6.981000	0.76166	2.379000	0.81126	0.462000	0.41574	GAG		0.662	LRSAM1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054164.1	NM_138361		13	35	0	0	0	0	13	35				
LRRC8A	56262	broad.mit.edu	37	9	131671590	131671590	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr9:131671590C>T	ENST00000259324.5	+	3	2670	c.2147C>T	c.(2146-2148)aCg>aTg	p.T716M	LRRC8A_ENST00000372600.4_Missense_Mutation_p.T716M|LRRC8A_ENST00000372599.3_Missense_Mutation_p.T716M	NM_001127244.1	NP_001120716.1	Q8IWT6	LRC8A_HUMAN	leucine rich repeat containing 8 family, member A	716					anion transport (GO:0006820)|cell volume homeostasis (GO:0006884)|pre-B cell differentiation (GO:0002329)|response to osmotic stress (GO:0006970)	cell surface (GO:0009986)|ion channel complex (GO:0034702)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(3)	28						CTAGCCATCACGGCCAACCGG	0.667																																						uc004bwl.3		NA																	0					0						c.(2146-2148)ACG>ATG		leucine rich repeat containing 8 family, member							52.0	55.0	54.0					9																	131671590		2203	4300	6503	SO:0001583	missense	56262				pre-B cell differentiation	integral to membrane		g.chr9:131671590C>T	AB037858	CCDS35155.1	9q34.2	2014-09-17	2005-06-29	2005-06-29	ENSG00000136802	ENSG00000136802			19027	protein-coding gene	gene with protein product		608360	"""leucine rich repeat containing 8"""	LRRC8			Standard	NM_001127244		Approved	KIAA1437, FLJ10337	uc010myp.3	Q8IWT6	OTTHUMG00000020766	ENST00000259324.5:c.2147C>T	9.37:g.131671590C>T	ENSP00000259324:p.Thr716Met					LRRC8A_uc010myp.2_Missense_Mutation_p.T716M|LRRC8A_uc010myq.2_Missense_Mutation_p.T716M	p.T716M	NM_019594	NP_062540	Q8IWT6	LRC8A_HUMAN			3	2401	+			716			LRR 15.		Q6UXM2|Q8NCI0|Q9P2B1	Missense_Mutation	SNP	ENST00000259324.5	37	c.2147C>T	CCDS35155.1	.	.	.	.	.	.	.	.	.	.	C	28.7	4.940466	0.92526	.	.	ENSG00000136802	ENST00000372600;ENST00000372599;ENST00000259324	T;T;T	0.59083	0.29;0.29;0.29	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.69762	0.3147	L	0.37697	1.125	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.71738	-0.4502	10	0.87932	D	0	.	18.7705	0.91890	0.0:1.0:0.0:0.0	.	716	Q8IWT6	LRC8A_HUMAN	M	716	ENSP00000361682:T716M;ENSP00000361680:T716M;ENSP00000259324:T716M	ENSP00000259324:T716M	T	+	2	0	LRRC8A	130711411	1.000000	0.71417	0.931000	0.37212	0.837000	0.47467	7.797000	0.85911	2.677000	0.91161	0.561000	0.74099	ACG		0.667	LRRC8A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054516.2	NM_019594		29	71	0	0	0	0	29	71				
RALGDS	5900	broad.mit.edu	37	9	135975666	135975666	+	Nonsense_Mutation	SNP	G	G	C			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr9:135975666G>C	ENST00000372050.3	-	17	2579	c.2558C>G	c.(2557-2559)tCa>tGa	p.S853*	RALGDS_ENST00000469972.1_5'UTR|RALGDS_ENST00000393157.3_Nonsense_Mutation_p.S852*|RALGDS_ENST00000393160.3_Nonsense_Mutation_p.S798*|RALGDS_ENST00000372047.3_Nonsense_Mutation_p.S841*|RALGDS_ENST00000542690.1_Nonsense_Mutation_p.S924*|RALGDS_ENST00000372062.3_Nonsense_Mutation_p.S824*	NM_006266.2	NP_006257.1	Q12967	GNDS_HUMAN	ral guanine nucleotide dissociation stimulator	853	Ras-associating. {ECO:0000255|PROSITE- ProRule:PRU00166}.				neurotrophin TRK receptor signaling pathway (GO:0048011)|Ras protein signal transduction (GO:0007265)|regulation of catalytic activity (GO:0050790)|regulation of small GTPase mediated signal transduction (GO:0051056)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)|small GTPase regulator activity (GO:0005083)			endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10				OV - Ovarian serous cystadenocarcinoma(145;3.66e-06)|Epithelial(140;2.77e-05)		CCGGTCATCTGAGAGAATCTG	0.582			T	CIITA	"""PMBL, Hodgkin Lymphona, """																																Melanoma(189;762 2088 15384 21931 52515)	uc004cco.2		NA		Dom	yes		9	9q34.3	5900	T	ral guanine nucleotide dissociation stimulator			L	CIITA		PMBL|Hodgkin Lymphona|		0				large_intestine(1)|lung(1)|ovary(1)	3						c.(2557-2559)TCA>TGA		ral guanine nucleotide dissociation stimulator							223.0	219.0	220.0					9																	135975666		2203	4300	6503	SO:0001587	stop_gained	5900				nerve growth factor receptor signaling pathway|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol	Ral guanyl-nucleotide exchange factor activity	g.chr9:135975666G>C	AB037729	CCDS6959.1, CCDS43897.1, CCDS65172.1, CCDS65173.1, CCDS65174.1	9q34.3	2009-04-08			ENSG00000160271	ENSG00000160271			9842	protein-coding gene	gene with protein product		601619				7972015	Standard	NM_006266		Approved	RGF, RalGEF, RGDS	uc004ccr.3	Q12967	OTTHUMG00000020858	ENST00000372050.3:c.2558C>G	9.37:g.135975666G>C	ENSP00000361120:p.Ser853*					RALGDS_uc004cct.1_5'Flank|RALGDS_uc004ccn.2_Nonsense_Mutation_p.S41*|RALGDS_uc004ccp.2_RNA|RALGDS_uc004ccq.2_Nonsense_Mutation_p.S841*|RALGDS_uc004ccr.2_Nonsense_Mutation_p.S852*|RALGDS_uc011mcv.1_Nonsense_Mutation_p.S824*|RALGDS_uc004ccs.2_Nonsense_Mutation_p.S798*|RALGDS_uc011mcw.1_Nonsense_Mutation_p.S924*|RALGDS_uc004ccv.1_3'UTR|RALGDS_uc004ccu.1_3'UTR	p.S853*	NM_006266	NP_006257	Q12967	GNDS_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.66e-06)|Epithelial(140;2.77e-05)	17	2578	-			853			Ras-associating.		B7Z753|E7ER93|E7ERZ0|Q5T7V4|Q6KH11|Q6PCE1|Q6ZSD5|Q9HAX7|Q9HAY1|Q9HCT1|Q9P2N8	Nonsense_Mutation	SNP	ENST00000372050.3	37	c.2558C>G	CCDS6959.1	.	.	.	.	.	.	.	.	.	.	G	40	8.330931	0.98764	.	.	ENSG00000160271	ENST00000372050;ENST00000372047;ENST00000393160;ENST00000393157;ENST00000542690;ENST00000372062	.	.	.	5.15	5.15	0.70609	.	0.214762	0.32935	N	0.005468	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	16.1126	0.81273	0.0:0.0:1.0:0.0	.	.	.	.	X	853;841;798;852;924;824	.	ENSP00000361117:S841X	S	-	2	0	RALGDS	134965487	1.000000	0.71417	0.222000	0.23844	0.087000	0.18053	8.969000	0.93411	2.380000	0.81148	0.313000	0.20887	TCA		0.582	RALGDS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054837.1	NM_006266		79	253	0	0	0	0	79	253				
C9orf116	138162	broad.mit.edu	37	9	138391608	138391608	+	Silent	SNP	C	C	G			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr9:138391608C>G	ENST00000429260.2	-	1	110	c.90G>C	c.(88-90)gtG>gtC	p.V30V	MRPS2_ENST00000241600.5_5'Flank|MRPS2_ENST00000371785.1_5'Flank|C9orf116_ENST00000371791.1_Silent_p.V30V|C9orf116_ENST00000371789.3_Silent_p.V30V	NM_001048265.1|NM_144654.2	NP_001041730.1|NP_653255.1	Q5BN46	CI116_HUMAN	chromosome 9 open reading frame 116	30															OV - Ovarian serous cystadenocarcinoma(145;7.39e-08)|Epithelial(140;5.19e-07)|all cancers(34;1.04e-05)		GGTCCGCGCTCACGCGGTAGT	0.697																																						uc004cft.1		NA																	0					0						c.(88-90)GTG>GTC		hypothetical protein LOC138162 isoform 1							13.0	15.0	14.0					9																	138391608		2190	4288	6478	SO:0001819	synonymous_variant	138162							g.chr9:138391608C>G	BC021261	CCDS6989.1, CCDS43899.1	9q34.3	2012-04-02			ENSG00000160345	ENSG00000160345			28435	protein-coding gene	gene with protein product	"""p53-induced expression 1 in Rb&#8722;/&#8722; cells"""	614502				12477932	Standard	NM_144654		Approved	MGC29761, RbEST47, PIERCE1	uc004cft.1	Q5BN46	OTTHUMG00000020902	ENST00000429260.2:c.90G>C	9.37:g.138391608C>G						C9orf116_uc004cfs.1_Silent_p.V30V|C9orf116_uc004cfu.1_RNA|MRPS2_uc004cfv.3_5'Flank|MRPS2_uc004cfw.3_5'Flank|MRPS2_uc004cfx.3_5'Flank|MRPS2_uc010nat.2_5'Flank	p.V30V	NM_001048265	NP_001041730	Q5BN46	CI116_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;7.39e-08)|Epithelial(140;5.19e-07)|all cancers(34;1.04e-05)	1	154	-			30					Q5T897|Q8WU44	Silent	SNP	ENST00000429260.2	37	c.90G>C	CCDS43899.1																																																																																				0.697	C9orf116-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054985.2	NM_144654		3	19	0	0	0	0	3	19				
C8G	733	broad.mit.edu	37	9	139840549	139840549	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr9:139840549G>A	ENST00000224181.3	+	4	419	c.359G>A	c.(358-360)cGa>cAa	p.R120Q	FBXW5_ENST00000483559.1_5'Flank|FBXW5_ENST00000325285.3_5'Flank	NM_000606.2	NP_000597.2	P07360	CO8G_HUMAN	complement component 8, gamma polypeptide	120					complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)	retinol binding (GO:0019841)			NS(1)|prostate(1)|skin(1)	3	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.19)	OV - Ovarian serous cystadenocarcinoma(145;7.88e-06)|Epithelial(140;0.000107)		CGAGACGCCCGAGGGGCTGTG	0.642																																						uc004cka.2		NA																	0					0						c.(358-360)CGA>CAA		complement component 8, gamma polypeptide							22.0	24.0	23.0					9																	139840549		2201	4298	6499	SO:0001583	missense	733				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex	retinol binding|transporter activity	g.chr9:139840549G>A	X06465	CCDS7017.1	9q	2011-11-15			ENSG00000176919	ENSG00000176919		"""Complement system"", ""Lipocalins"""	1354	protein-coding gene	gene with protein product		120930					Standard	NM_000606		Approved		uc004cka.2	P07360	OTTHUMG00000020955	ENST00000224181.3:c.359G>A	9.37:g.139840549G>A	ENSP00000224181:p.Arg120Gln					FBXW5_uc004cjx.2_5'Flank|FBXW5_uc004cjy.2_5'Flank|FBXW5_uc004cjz.2_5'Flank	p.R120Q	NM_000606	NP_000597	P07360	CO8G_HUMAN	STAD - Stomach adenocarcinoma(284;0.19)	OV - Ovarian serous cystadenocarcinoma(145;7.88e-06)|Epithelial(140;0.000107)	4	434	+	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	120					Q14CT8|Q14CU0|Q5SQ07	Missense_Mutation	SNP	ENST00000224181.3	37	c.359G>A	CCDS7017.1	.	.	.	.	.	.	.	.	.	.	G	14.43	2.531948	0.45073	.	.	ENSG00000176919	ENST00000371634;ENST00000224181	T;T	0.22336	2.84;1.96	4.15	2.21	0.28008	Calycin-like (1);Lipocalin/cytosolic fatty-acid binding protein domain (1);Calycin (1);	0.629773	0.15142	N	0.278225	T	0.24392	0.0591	M	0.72479	2.2	0.09310	N	1	D	0.71674	0.998	P	0.47786	0.557	T	0.14531	-1.0469	10	0.13470	T	0.59	-7.6118	7.2129	0.25943	0.0928:0.0:0.7377:0.1695	.	120	P07360	CO8G_HUMAN	Q	120	ENSP00000360697:R120Q;ENSP00000224181:R120Q	ENSP00000224181:R120Q	R	+	2	0	C8G	138960370	0.001000	0.12720	0.029000	0.17559	0.210000	0.24377	0.750000	0.26334	0.459000	0.27016	0.561000	0.74099	CGA		0.642	C8G-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055178.1			16	23	0	0	0	0	16	23				
ASMTL	8623	broad.mit.edu	37	X	1546743	1546743	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chrX:1546743C>T	ENST00000381317.3	-	7	813	c.781G>A	c.(781-783)Gag>Aag	p.E261K	ASMTL_ENST00000463763.1_5'UTR|ASMTL_ENST00000381333.4_Missense_Mutation_p.E245K|ASMTL_ENST00000416733.2_Missense_Mutation_p.E185K|ASMTL_ENST00000534940.1_Missense_Mutation_p.E203K	NM_004192.3	NP_004183.2	O95671	ASML_HUMAN	acetylserotonin O-methyltransferase-like	261						cytoplasm (GO:0005737)	O-methyltransferase activity (GO:0008171)			NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(9)|pancreas(1)|soft_tissue(1)	23		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				TCTCCCGCCTCGGCCTTCTCA	0.697																																						uc004cpx.1		NA																	0					0						c.(781-783)GAG>AAG		acetylserotonin O-methyltransferase-like							57.0	77.0	71.0					X																	1546743		2073	4168	6241	SO:0001583	missense	8623				melatonin biosynthetic process	cytoplasm	acetylserotonin O-methyltransferase activity	g.chrX:1546743C>T	Y15521	CCDS43917.1, CCDS55362.1, CCDS55363.1	Xp22.3 and Yp11.3	2008-02-05			ENSG00000169093	ENSG00000169093		"""Pseudoautosomal regions / PAR1"""	751	protein-coding gene	gene with protein product		300162, 400011				9736779	Standard	NM_004192		Approved		uc004cpx.2	O95671	OTTHUMG00000021057	ENST00000381317.3:c.781G>A	X.37:g.1546743C>T	ENSP00000370718:p.Glu261Lys					ASMTL_uc011mhe.1_Missense_Mutation_p.E185K|ASMTL_uc004cpy.1_Missense_Mutation_p.E245K|ASMTL_uc011mhf.1_Missense_Mutation_p.E203K	p.E261K	NM_004192	NP_004183	O95671	ASML_HUMAN			7	892	-		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	261					B4DX75|F5GXH4|J3JS33|Q5JQ53|Q8NBH5|Q96G02|Q9BUL6	Missense_Mutation	SNP	ENST00000381317.3	37	c.781G>A	CCDS43917.1	.	.	.	.	.	.	.	.	.	.	c	1.078	-0.667860	0.03428	.	.	ENSG00000169093	ENST00000416733;ENST00000534940;ENST00000381333;ENST00000381317	T;T;T;T	0.56611	0.45;0.45;0.45;0.45	1.17	-2.34	0.06704	.	21.384900	0.00166	U	0.000009	T	0.32346	0.0826	N	0.22421	0.69	0.09310	N	1	B;B;B	0.26318	0.005;0.005;0.146	B;B;B	0.14578	0.002;0.002;0.011	T	0.39761	-0.9598	10	0.07482	T	0.82	.	4.3265	0.11043	0.0:0.4002:0.4223:0.1774	.	185;245;261	E7ER97;O95671-2;O95671	.;.;ASML_HUMAN	K	185;203;245;261	ENSP00000410578:E185K;ENSP00000446410:E203K;ENSP00000370734:E245K;ENSP00000370718:E261K	ENSP00000370718:E261K	E	-	1	0	ASMTL	1506743	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.884000	0.01622	-3.884000	0.00095	-3.234000	0.00051	GAG		0.697	ASMTL-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055595.1	NM_004192		7	57	0	0	0	0	7	57				
TBL1X	6907	broad.mit.edu	37	X	9679750	9679750	+	Silent	SNP	C	C	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chrX:9679750C>T	ENST00000217964.7	+	16	2179	c.1539C>T	c.(1537-1539)ttC>ttT	p.F513F	TBL1X_ENST00000536365.1_Silent_p.F462F|TBL1X_ENST00000424279.1_Silent_p.F462F|TBL1X_ENST00000407597.2_Silent_p.F513F|TBL1X_ENST00000380961.1_Silent_p.F462F	NM_005647.3	NP_005638.1	O60907	TBL1X_HUMAN	transducin (beta)-like 1X-linked	513					canonical Wnt signaling pathway (GO:0060070)|cellular lipid metabolic process (GO:0044255)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|proteolysis (GO:0006508)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcriptional repressor complex (GO:0017053)	beta-catenin binding (GO:0008013)|histone binding (GO:0042393)|protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|cervix(1)|endometrium(5)|large_intestine(7)|lung(2)|ovary(1)|skin(2)	20		Hepatocellular(5;0.000888)				GCGTAGCTTTCAGCCCTGATG	0.527																																						uc010ndq.2		NA																	0				ovary(1)	1						c.(1537-1539)TTC>TTT		transducin beta-like 1X isoform a							158.0	111.0	127.0					X																	9679750		2203	4300	6503	SO:0001819	synonymous_variant	6907				canonical Wnt receptor signaling pathway|cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|proteasomal ubiquitin-dependent protein catabolic process|sensory perception of sound|transcription, DNA-dependent	spindle microtubule|transcriptional repressor complex	beta-catenin binding|histone binding|protein C-terminus binding|protein domain specific binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding	g.chrX:9679750C>T	Y12781	CCDS14133.1, CCDS48078.1	Xp22.3	2013-01-10	2002-05-22	2002-05-24	ENSG00000101849	ENSG00000101849		"""WD repeat domain containing"""	11585	protein-coding gene	gene with protein product		300196	"""transducin (beta)-like 1"""	TBL1		10330347	Standard	NM_005647		Approved	EBI	uc004csr.3	O60907	OTTHUMG00000021117	ENST00000217964.7:c.1539C>T	X.37:g.9679750C>T						TBL1X_uc004csq.3_Silent_p.F462F|TBL1X_uc010ndr.2_Silent_p.F462F|TBL1X_uc004csr.2_Silent_p.F513F|TBL1X_uc004css.2_Silent_p.F464F	p.F513F	NM_001139466	NP_001132938	O60907	TBL1X_HUMAN			16	1907	+		Hepatocellular(5;0.000888)	513			WD 7.		A8K044|A8K4J7|Q86UY2	Silent	SNP	ENST00000217964.7	37	c.1539C>T	CCDS14133.1																																																																																				0.527	TBL1X-003	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055709.1	NM_005647		15	21	0	0	0	0	15	21				
CDKL5	6792	broad.mit.edu	37	X	18646649	18646649	+	Silent	SNP	G	G	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chrX:18646649G>A	ENST00000379989.3	+	19	2940	c.2655G>A	c.(2653-2655)ggG>ggA	p.G885G	CDKL5_ENST00000379996.3_Silent_p.G885G	NM_001037343.1	NP_001032420.1	O76039	CDKL5_HUMAN	cyclin-dependent kinase-like 5	885					neuron migration (GO:0001764)|positive regulation of axon extension (GO:0045773)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of Rac GTPase activity (GO:0032855)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of dendrite development (GO:0050773)	cytoplasm (GO:0005737)|dendrite cytoplasm (GO:0032839)|dendritic growth cone (GO:0044294)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|kinase activity (GO:0016301)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rac GTPase binding (GO:0048365)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|skin(5)|stomach(1)	44	Hepatocellular(33;0.183)					CCTCTGGCGGGAGCAGCAACA	0.592																																						uc004cym.2		NA																	0				ovary(2)|large_intestine(1)|stomach(1)|central_nervous_system(1)|skin(1)	6						c.(2653-2655)GGG>GGA		cyclin-dependent kinase-like 5							72.0	73.0	73.0					X																	18646649		2203	4300	6503	SO:0001819	synonymous_variant	6792				neuron migration|positive regulation of axon extension|positive regulation of dendrite morphogenesis|positive regulation of Rac GTPase activity|protein autophosphorylation	dendrite cytoplasm|dendritic growth cone|nucleus	ATP binding|cyclin-dependent protein kinase activity|Rac GTPase binding	g.chrX:18646649G>A	Y15057	CCDS14186.1	Xp22	2011-11-04	2002-11-26	2002-11-29	ENSG00000008086	ENSG00000008086		"""Cyclin-dependent kinases"""	11411	protein-coding gene	gene with protein product		300203	"""serine/threonine kinase 9"""	STK9		9721213, 16935860	Standard	XM_005274584		Approved	EIEE2	uc004cym.3	O76039	OTTHUMG00000021214	ENST00000379989.3:c.2655G>A	X.37:g.18646649G>A						CDKL5_uc004cyn.2_Silent_p.G885G	p.G885G	NM_003159	NP_003150	O76039	CDKL5_HUMAN			18	2908	+	Hepatocellular(33;0.183)		885					G9B9X4|Q14198|Q5H985|Q8IYC7|Q9UJL6	Silent	SNP	ENST00000379989.3	37	c.2655G>A	CCDS14186.1																																																																																				0.592	CDKL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055945.2	NM_003159		43	47	0	0	0	0	43	47				
SH3KBP1	30011	broad.mit.edu	37	X	19764535	19764535	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chrX:19764535C>T	ENST00000397821.3	-	3	477	c.187G>A	c.(187-189)Gac>Aac	p.D63N	SH3KBP1_ENST00000379697.3_Missense_Mutation_p.D63N|SH3KBP1_ENST00000379698.4_Missense_Mutation_p.D26N	NM_031892.2	NP_114098.1	Q96B97	SH3K1_HUMAN	SH3-domain kinase binding protein 1	63					apoptotic process (GO:0006915)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|cytoskeleton organization (GO:0007010)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|regulation of cell shape (GO:0008360)	cell-cell junction (GO:0005911)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)				breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(4)	29						GTGAGAGGGTCTTTCTTCATC	0.403																																						uc004czm.2		NA																	0					0						c.(187-189)GAC>AAC		SH3-domain kinase binding protein 1 isoform a							151.0	144.0	146.0					X																	19764535		2203	4300	6503	SO:0001583	missense	30011				apoptosis|cell-cell signaling|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	cytoplasmic vesicle membrane|cytoskeleton|cytosol|focal adhesion|nucleus|synapse|synaptosome	SH3 domain binding	g.chrX:19764535C>T	AF230904	CCDS14193.1, CCDS35213.1, CCDS55383.1	Xp22.1-p21.3	2008-02-05			ENSG00000147010	ENSG00000147010			13867	protein-coding gene	gene with protein product		300374				8889549, 7566098	Standard	NM_031892		Approved	CIN85	uc004czm.3	Q96B97	OTTHUMG00000021227	ENST00000397821.3:c.187G>A	X.37:g.19764535C>T	ENSP00000380921:p.Asp63Asn					SH3KBP1_uc004czl.2_Missense_Mutation_p.D26N	p.D63N	NM_031892	NP_114098	Q96B97	SH3K1_HUMAN			3	503	-			63					B7Z1D5|Q5JPT4|Q5JPT5|Q8IWX6|Q8IX98|Q96RN4|Q9NYR0	Missense_Mutation	SNP	ENST00000397821.3	37	c.187G>A	CCDS14193.1	.	.	.	.	.	.	.	.	.	.	C	18.60	3.658895	0.67586	.	.	ENSG00000147010	ENST00000379702;ENST00000397821;ENST00000379698;ENST00000379697;ENST00000432234	T;T;T;T	0.50548	1.36;1.55;1.09;0.74	5.64	5.64	0.86602	.	0.401872	0.25714	N	0.028795	T	0.36744	0.0978	L	0.29908	0.895	0.80722	D	1	B;B	0.32245	0.361;0.319	B;B	0.30105	0.051;0.111	T	0.15150	-1.0447	10	0.28530	T	0.3	-9.6832	15.4578	0.75330	0.0:1.0:0.0:0.0	.	63;26	Q96B97;Q5JPT5	SH3K1_HUMAN;.	N	4;63;26;63;10	ENSP00000380921:D63N;ENSP00000369020:D26N;ENSP00000369019:D63N;ENSP00000388766:D10N	ENSP00000369019:D63N	D	-	1	0	SH3KBP1	19674456	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	4.413000	0.59795	2.358000	0.79984	0.600000	0.82982	GAC		0.403	SH3KBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055992.1	NM_031892		54	51	0	0	0	0	54	51				
OTUD5	55593	broad.mit.edu	37	X	48783269	48783269	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chrX:48783269C>G	ENST00000156084.4	-	6	1192	c.1132G>C	c.(1132-1134)Gaa>Caa	p.E378Q	OTUD5_ENST00000428668.2_Missense_Mutation_p.E156Q|OTUD5_ENST00000396743.3_Missense_Mutation_p.E373Q|OTUD5_ENST00000376488.3_Missense_Mutation_p.E373Q|OTUD5_ENST00000484499.1_5'UTR	NM_017602.3	NP_060072.1	Q96G74	OTUD5_HUMAN	OTU deubiquitinase 5	378					innate immune response (GO:0045087)|negative regulation of type I interferon production (GO:0032480)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|response to lipopolysaccharide (GO:0032496)	cytosol (GO:0005829)	ubiquitin-specific protease activity (GO:0004843)			endometrium(2)|large_intestine(3)|lung(6)|pancreas(2)	13						ATCTGCTGTTCAATCCATGAC	0.507																																						uc004dlu.2		NA																	0				pancreas(1)	1						c.(1132-1134)GAA>CAA		OTU domain containing 5 isoform a							147.0	109.0	122.0					X																	48783269		2203	4300	6503	SO:0001583	missense	55593				negative regulation of type I interferon production		cysteine-type peptidase activity	g.chrX:48783269C>G		CCDS14313.1, CCDS48104.1, CCDS48105.1	Xp11.23	2014-06-09	2014-02-24		ENSG00000068308	ENSG00000068308		"""OTU domain containing"""	25402	protein-coding gene	gene with protein product		300713	"""OTU domain containing 5"""			24143256	Standard	NM_001136157		Approved	DKFZp761A052, DUBA	uc004dlu.3	Q96G74	OTTHUMG00000024130	ENST00000156084.4:c.1132G>C	X.37:g.48783269C>G	ENSP00000156084:p.Glu378Gln					OTUD5_uc004dlt.3_Missense_Mutation_p.E373Q|OTUD5_uc004dlv.2_Missense_Mutation_p.E373Q|OTUD5_uc011mmp.1_Missense_Mutation_p.E156Q	p.E378Q	NM_017602	NP_060072	Q96G74	OTUD5_HUMAN			6	1193	-			378					B4DGG7|G5E9D7|Q4KMN9|Q8N6T5|Q9H650|Q9H9U0|Q9NT65	Missense_Mutation	SNP	ENST00000156084.4	37	c.1132G>C	CCDS14313.1	.	.	.	.	.	.	.	.	.	.	C	17.25	3.342579	0.61073	.	.	ENSG00000068308	ENST00000396743;ENST00000453548;ENST00000455452;ENST00000156084;ENST00000376488;ENST00000428668	D;T;D;D;T	0.84589	-1.87;0.95;-1.87;-1.87;0.95	5.17	5.17	0.71159	.	0.000000	0.85682	D	0.000000	D	0.89350	0.6690	L	0.48986	1.54	0.80722	D	1	P;D;D	0.69078	0.948;0.995;0.997	P;P;D	0.65443	0.666;0.863;0.935	D	0.89920	0.4058	10	0.62326	D	0.03	-1.0931	15.1666	0.72833	0.0:1.0:0.0:0.0	.	156;378;373	B4DGG7;Q96G74;G5E9D7	.;OTUD5_HUMAN;.	Q	373;349;251;378;373;156	ENSP00000379969:E373Q;ENSP00000390767:E251Q;ENSP00000156084:E378Q;ENSP00000365671:E373Q;ENSP00000401629:E156Q	ENSP00000156084:E378Q	E	-	1	0	OTUD5	48668213	1.000000	0.71417	1.000000	0.80357	0.097000	0.18754	6.723000	0.74742	2.495000	0.84180	0.544000	0.68410	GAA		0.507	OTUD5-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000060799.1	NM_017602		8	45	0	0	0	0	8	45				
CCNB3	85417	broad.mit.edu	37	X	50094305	50094305	+	Silent	SNP	G	G	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chrX:50094305G>A	ENST00000376042.1	+	12	4324	c.4026G>A	c.(4024-4026)ctG>ctA	p.L1342L	CCNB3_ENST00000376038.1_Silent_p.L238L|CCNB3_ENST00000348603.2_Silent_p.L238L|CCNB3_ENST00000276014.7_Silent_p.L1342L			Q8WWL7	CCNB3_HUMAN	cyclin B3	1342					meiotic nuclear division (GO:0007126)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)	nucleus (GO:0005634)				breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					TCAGACAGCTGAACAAACTGC	0.458																																						uc004dox.3		NA																	0				ovary(4)|lung(3)|large_intestine(1)|pancreas(1)	9						c.(4024-4026)CTG>CTA		cyclin B3 isoform 3							173.0	152.0	159.0					X																	50094305		2203	4300	6503	SO:0001819	synonymous_variant	85417				cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle	nucleus	protein kinase binding	g.chrX:50094305G>A	AJ314764	CCDS14331.1, CCDS14332.1	Xp11	2008-07-03			ENSG00000147082	ENSG00000147082			18709	protein-coding gene	gene with protein product		300456				11846420, 12185076	Standard	XM_006724610		Approved		uc004doy.3	Q8WWL7	OTTHUMG00000021519	ENST00000376042.1:c.4026G>A	X.37:g.50094305G>A						CCNB3_uc004doy.2_Silent_p.L1342L|CCNB3_uc004doz.2_Silent_p.L238L|CCNB3_uc010njq.2_Silent_p.L234L|CCNB3_uc004dpa.2_Silent_p.L181L	p.L1342L	NM_033031	NP_149020	Q8WWL7	CCNB3_HUMAN			12	4324	+	Ovarian(276;0.236)		1342					B1AQI5|B1AQI6|Q96SB5|Q96SB6|Q96SB7|Q9NT38	Silent	SNP	ENST00000376042.1	37	c.4026G>A	CCDS14331.1																																																																																				0.458	CCNB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056558.1			71	49	0	0	0	0	71	49				
EFNB1	1947	broad.mit.edu	37	X	68058466	68058466	+	Silent	SNP	G	G	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chrX:68058466G>A	ENST00000204961.4	+	2	915	c.135G>A	c.(133-135)ctG>ctA	p.L45L		NM_004429.4	NP_004420.1	P98172	EFNB1_HUMAN	ephrin-B1	45	Ephrin RBD. {ECO:0000255|PROSITE- ProRule:PRU00884}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|embryonic pattern specification (GO:0009880)|ephrin receptor signaling pathway (GO:0048013)|neural crest cell migration (GO:0001755)|positive regulation of T cell proliferation (GO:0042102)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ephrin receptor binding (GO:0046875)			breast(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)	22						GCAGGTTCCTGAGTGGGAAGG	0.592																																						uc004dxd.3		NA																	0					0						c.(133-135)CTG>CTA		ephrin-B1 precursor							31.0	29.0	30.0					X																	68058466		2203	4300	6503	SO:0001819	synonymous_variant	1947				cell adhesion|cell-cell signaling	integral to plasma membrane|soluble fraction|synapse	ephrin receptor binding	g.chrX:68058466G>A	U09303	CCDS14391.1	Xq12	2011-03-09			ENSG00000090776	ENSG00000090776		"""Ephrins"""	3226	protein-coding gene	gene with protein product		300035	"""craniofrontonasal syndrome (craniofrontonasal dysplasia)"""	EPLG2, CFNS		7774950, 16526919	Standard	NM_004429		Approved	LERK2, Elk-L	uc004dxd.4	P98172	OTTHUMG00000021751	ENST00000204961.4:c.135G>A	X.37:g.68058466G>A						EFNB1_uc004dxe.2_Silent_p.L45L	p.L45L	NM_004429	NP_004420	P98172	EFNB1_HUMAN			2	915	+			45			Extracellular (Potential).		D3DVU0	Silent	SNP	ENST00000204961.4	37	c.135G>A	CCDS14391.1																																																																																				0.592	EFNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057029.1	NM_004429		17	11	0	0	0	0	17	11				
DGAT2L6	347516	broad.mit.edu	37	X	69424864	69424864	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chrX:69424864C>G	ENST00000333026.3	+	7	1022	c.922C>G	c.(922-924)Cac>Gac	p.H308D		NM_198512.1	NP_940914.1	Q6ZPD8	DG2L6_HUMAN	diacylglycerol O-acyltransferase 2-like 6	308					lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	transferase activity, transferring acyl groups other than amino-acyl groups (GO:0016747)			breast(1)|endometrium(2)|large_intestine(3)|lung(5)|ovary(1)	12						AGACAAGTATCACGCACTCTA	0.468																																						uc004dxx.1		NA																	0				ovary(1)	1						c.(922-924)CAC>GAC		diacylglycerol O-acyltransferase 2-like 6							94.0	74.0	81.0					X																	69424864		2203	4300	6503	SO:0001583	missense	347516				lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity	g.chrX:69424864C>G	AK129500	CCDS14397.1	Xq13.1	2008-02-05			ENSG00000184210	ENSG00000184210			23250	protein-coding gene	gene with protein product		300926				15671038	Standard	NM_198512		Approved	DC3, FLJ25989	uc004dxx.1	Q6ZPD8	OTTHUMG00000021774	ENST00000333026.3:c.922C>G	X.37:g.69424864C>G	ENSP00000328036:p.His308Asp						p.H308D	NM_198512	NP_940914	Q6ZPD8	DG2L6_HUMAN			7	1019	+			308					Q6IEE2	Missense_Mutation	SNP	ENST00000333026.3	37	c.922C>G	CCDS14397.1	.	.	.	.	.	.	.	.	.	.	C	16.52	3.146329	0.57044	.	.	ENSG00000184210	ENST00000333026	T	0.26518	1.73	4.74	3.87	0.44632	.	0.164442	0.42172	D	0.000759	T	0.59810	0.2221	H	0.95982	3.75	0.47862	D	0.999538	D	0.63880	0.993	D	0.67382	0.951	T	0.69091	-0.5237	10	0.87932	D	0	-11.129	10.1756	0.42937	0.0:0.8992:0.0:0.1008	.	308	Q6ZPD8	DG2L6_HUMAN	D	308	ENSP00000328036:H308D	ENSP00000328036:H308D	H	+	1	0	DGAT2L6	69341589	1.000000	0.71417	0.833000	0.33012	0.585000	0.36419	3.979000	0.56888	0.984000	0.38629	0.600000	0.82982	CAC		0.468	DGAT2L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057067.1	NM_198512		18	18	0	0	0	0	18	18				
NAP1L3	4675	broad.mit.edu	37	X	92927287	92927287	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chrX:92927287G>C	ENST00000373079.3	-	1	1280	c.1017C>G	c.(1015-1017)ttC>ttG	p.F339L	NAP1L3_ENST00000475430.2_Missense_Mutation_p.F332L|FAM133A_ENST00000355813.5_5'Flank|FAM133A_ENST00000322139.4_5'Flank|FAM133A_ENST00000538690.1_5'Flank|FAM133A_ENST00000332647.4_5'Flank	NM_004538.5	NP_004529.2	Q99457	NP1L3_HUMAN	nucleosome assembly protein 1-like 3	339					nucleosome assembly (GO:0006334)	nucleus (GO:0005634)				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	34						CATCCGACAAGAACTTCAGAA	0.423																																						uc004efq.2		NA																	0				ovary(1)|skin(1)	2						c.(1015-1017)TTC>TTG		nucleosome assembly protein 1-like 3							54.0	50.0	51.0					X																	92927287		2203	4300	6503	SO:0001583	missense	4675				nucleosome assembly	chromatin assembly complex		g.chrX:92927287G>C		CCDS14465.1	Xq21.3-q22	2008-08-01			ENSG00000186310	ENSG00000186310			7639	protein-coding gene	gene with protein product		300117				8976385	Standard	NM_004538		Approved	MB20, NPL3, MGC26312	uc004efq.3	Q99457	OTTHUMG00000021974	ENST00000373079.3:c.1017C>G	X.37:g.92927287G>C	ENSP00000362171:p.Phe339Leu					FAM133A_uc004efr.1_5'Flank	p.F339L	NM_004538	NP_004529	Q99457	NP1L3_HUMAN			1	1322	-			339					B2RCM0|O60788	Missense_Mutation	SNP	ENST00000373079.3	37	c.1017C>G	CCDS14465.1	.	.	.	.	.	.	.	.	.	.	G	1.014	-0.686999	0.03328	.	.	ENSG00000186310	ENST00000373079;ENST00000543136	T	0.41400	1.0	3.68	2.81	0.32909	.	0.156408	0.56097	D	0.000029	T	0.30885	0.0779	L	0.46157	1.445	0.27825	N	0.941679	B	0.25850	0.136	B	0.32724	0.151	T	0.18209	-1.0344	10	0.12103	T	0.63	.	5.1556	0.15032	0.2699:0.0:0.7301:0.0	.	339	Q99457	NP1L3_HUMAN	L	339;332	ENSP00000362171:F339L	ENSP00000362171:F339L	F	-	3	2	NAP1L3	92813943	1.000000	0.71417	0.943000	0.38184	0.964000	0.63967	0.727000	0.25999	0.923000	0.37045	0.529000	0.55759	TTC		0.423	NAP1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057449.1	NM_004538		14	27	0	0	0	0	14	27				
GUCY2F	2986	broad.mit.edu	37	X	108625366	108625366	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chrX:108625366C>G	ENST00000218006.2	-	17	3422	c.3131G>C	c.(3130-3132)cGa>cCa	p.R1044P		NM_001522.2	NP_001513.2	P51841	GUC2F_HUMAN	guanylate cyclase 2F, retinal	1044					intracellular signal transduction (GO:0035556)|phototransduction, visible light (GO:0007603)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|nuclear outer membrane (GO:0005640)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|protein kinase activity (GO:0004672)|receptor activity (GO:0004872)			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						TGTTCTTCCTCGAAGCTCCAC	0.423																																						uc004eod.3		NA																	0				lung(4)|breast(3)|central_nervous_system(1)	8						c.(3130-3132)CGA>CCA		guanylate cyclase 2F precursor							176.0	170.0	172.0					X																	108625366		2203	4300	6503	SO:0001583	missense	2986				intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity	g.chrX:108625366C>G	L37378	CCDS14545.1	Xq22	2008-08-01			ENSG00000101890	ENSG00000101890			4691	protein-coding gene	gene with protein product	"""guanylate cyclase 2D-like, membrane (retina-specific)"""	300041				8838319, 7777544	Standard	NM_001522		Approved	GUC2DL, GC-F, RetGC-2, ROS-GC2, CYGF	uc004eod.4	P51841	OTTHUMG00000022184	ENST00000218006.2:c.3131G>C	X.37:g.108625366C>G	ENSP00000218006:p.Arg1044Pro					GUCY2F_uc011msq.1_RNA	p.R1044P	NM_001522	NP_001513	P51841	GUC2F_HUMAN			17	3407	-			1044			Cytoplasmic (Potential).		Q9UJF1	Missense_Mutation	SNP	ENST00000218006.2	37	c.3131G>C	CCDS14545.1	.	.	.	.	.	.	.	.	.	.	C	17.74	3.463456	0.63513	.	.	ENSG00000101890	ENST00000218006	D	0.85861	-2.04	4.31	3.45	0.39498	Adenylyl cyclase class-3/4/guanylyl cyclase (3);	0.000000	0.85682	D	0.000000	D	0.93148	0.7818	M	0.93197	3.39	0.54753	D	0.999989	D	0.89917	1.0	D	0.97110	1.0	D	0.93185	0.6578	10	0.87932	D	0	.	9.3703	0.38250	0.0:0.8912:0.0:0.1088	.	1044	P51841	GUC2F_HUMAN	P	1044	ENSP00000218006:R1044P	ENSP00000218006:R1044P	R	-	2	0	GUCY2F	108512022	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.398000	0.59697	1.163000	0.42636	0.600000	0.82982	CGA		0.423	GUCY2F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057884.1	NM_001522		3	166	0	0	0	0	3	166				
WDR44	54521	broad.mit.edu	37	X	117530989	117530989	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chrX:117530989G>C	ENST00000254029.3	+	7	1505	c.1110G>C	c.(1108-1110)ttG>ttC	p.L370F	WDR44_ENST00000371822.5_Missense_Mutation_p.L345F|WDR44_ENST00000371825.3_Missense_Mutation_p.L370F	NM_019045.4	NP_061918.3	Q5JSH3	WDR44_HUMAN	WD repeat domain 44	370						endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)				breast(4)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	33						AAATACCTTTGAGTCTTGCAG	0.363																																						uc004eqn.2		NA																	0				lung(2)|upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)	5						c.(1108-1110)TTG>TTC		WD repeat domain 44 protein							121.0	106.0	111.0					X																	117530989		2203	4298	6501	SO:0001583	missense	54521					cytosol|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm		g.chrX:117530989G>C	AK001978	CCDS14572.1, CCDS55482.1, CCDS55483.1	Xq24	2013-01-09			ENSG00000131725	ENSG00000131725		"""WD repeat domain containing"""	30512	protein-coding gene	gene with protein product						12477932	Standard	NM_019045		Approved	DKFZp686L20145, RPH11, RAB11BP	uc004eqn.3	Q5JSH3	OTTHUMG00000022254	ENST00000254029.3:c.1110G>C	X.37:g.117530989G>C	ENSP00000254029:p.Leu370Phe					WDR44_uc004eqo.2_Missense_Mutation_p.L370F|WDR44_uc011mtr.1_Missense_Mutation_p.L345F|WDR44_uc010nqi.2_Missense_Mutation_p.L80F	p.L370F	NM_019045	NP_061918	Q5JSH3	WDR44_HUMAN			7	1535	+			370					B4DSE9|F8W913|Q0JS52|Q0JTF3|Q5JSH2|Q6ZSC1|Q7Z365|Q7Z3P6|Q8NAU8|Q8NHU5|Q9NUV4	Missense_Mutation	SNP	ENST00000254029.3	37	c.1110G>C	CCDS14572.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.46|18.46	3.628695|3.628695	0.67015|0.67015	.|.	.|.	ENSG00000131725|ENSG00000131725	ENST00000371848|ENST00000371822;ENST00000254029;ENST00000371825	.|D;D;D	.|0.87809	.|-2.3;-1.69;-1.55	6.06|6.06	3.2|3.2	0.36748|0.36748	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.90851|0.90851	0.7126|0.7126	M|M	0.61703|0.61703	1.905|1.905	0.49130|0.49130	D|D	0.999759|0.999759	.|D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0	.|D;D;D;D	.|0.97110	.|0.999;0.999;0.999;1.0	D|D	0.88972|0.88972	0.3401|0.3401	5|10	.|0.87932	.|D	.|0	-20.4613|-20.4613	8.7887|8.7887	0.34837|0.34837	0.2637:0.0:0.7363:0.0|0.2637:0.0:0.7363:0.0	.|.	.|345;370;370;370	.|F8W913;E9PCI7;Q5JSH3-2;Q5JSH3	.|.;.;.;WDR44_HUMAN	Q|F	270|345;370;370	.|ENSP00000360887:L345F;ENSP00000254029:L370F;ENSP00000360890:L370F	.|ENSP00000254029:L370F	E|L	+|+	1|3	0|2	WDR44|WDR44	117415017|117415017	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	2.198000|2.198000	0.42705|0.42705	0.224000|0.224000	0.20940|0.20940	0.594000|0.594000	0.82650|0.82650	GAG|TTG		0.363	WDR44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058001.1	NM_019045		33	42	0	0	0	0	33	42				
TENM1	10178	broad.mit.edu	37	X	123514646	123514646	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chrX:123514646C>G	ENST00000371130.3	-	31	7981	c.7918G>C	c.(7918-7920)Gaa>Caa	p.E2640Q	STAG2_ENST00000469481.1_Intron|TENM1_ENST00000422452.2_Missense_Mutation_p.E2647Q	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	2640					immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										TTTTCCTCTTCGACAGTTGTC	0.532																																						uc004euj.2		NA																	0				ovary(11)|breast(4)|large_intestine(2)|skin(2)|pancreas(2)|upper_aerodigestive_tract(1)|lung(1)	23						c.(7918-7920)GAA>CAA		odz, odd Oz/ten-m homolog 1 isoform 3							110.0	97.0	101.0					X																	123514646		2203	4300	6503	SO:0001583	missense	10178				immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding	g.chrX:123514646C>G	AF100772	CCDS14609.1, CCDS55488.1	Xq25	2012-10-02	2012-10-02	2012-10-02	ENSG00000009694	ENSG00000009694			8117	protein-coding gene	gene with protein product		300588	"""tenascin M"", ""odz, odd Oz/ten-m homolog 1 (Drosophila)"""	ODZ3, TNM, ODZ1		10331952, 10341219	Standard	NM_001163278		Approved	TEN-M1	uc010nqy.3	Q9UKZ4	OTTHUMG00000022721	ENST00000371130.3:c.7918G>C	X.37:g.123514646C>G	ENSP00000360171:p.Glu2640Gln					ODZ1_uc011muj.1_Missense_Mutation_p.E2646Q|ODZ1_uc010nqy.2_Missense_Mutation_p.E2647Q	p.E2640Q	NM_014253	NP_055068	Q9UKZ4	TEN1_HUMAN			31	7982	-			2640			Extracellular (Potential).		B2RTR5|Q5JZ17	Missense_Mutation	SNP	ENST00000371130.3	37	c.7918G>C	CCDS14609.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.025334	0.75390	.	.	ENSG00000009694	ENST00000371130;ENST00000422452	D;D	0.87179	-2.22;-2.19	5.82	5.82	0.92795	.	0.049437	0.85682	D	0.000000	D	0.92328	0.7566	L	0.56769	1.78	0.80722	D	1	D;D;D	0.76494	0.999;0.997;0.986	D;D;P	0.79108	0.992;0.923;0.87	D	0.91390	0.5134	10	0.41790	T	0.15	.	19.0811	0.93182	0.0:1.0:0.0:0.0	.	2646;2647;2640	B7ZMH4;B2RTR5;Q9UKZ4	.;.;TEN1_HUMAN	Q	2640;2647	ENSP00000360171:E2640Q;ENSP00000403954:E2647Q	ENSP00000360171:E2640Q	E	-	1	0	ODZ1	123342327	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.818000	0.86416	2.455000	0.83008	0.594000	0.82650	GAA		0.532	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058985.1	NM_014253		3	83	0	0	0	0	3	83				
EMD	2010	broad.mit.edu	37	X	153608306	153608306	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chrX:153608306G>C	ENST00000369842.4	+	3	480	c.192G>C	c.(190-192)ttG>ttC	p.L64F	EMD_ENST00000492448.1_3'UTR|EMD_ENST00000369835.3_Missense_Mutation_p.L29F	NM_000117.2	NP_000108.1	P50402	EMD_HUMAN	emerin	64	Interaction with F-actin. {ECO:0000305}.				cellular response to growth factor stimulus (GO:0071363)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic nuclear envelope reassembly (GO:0007084)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of fibroblast proliferation (GO:0048147)|positive regulation of protein export from nucleus (GO:0046827)|regulation of canonical Wnt signaling pathway (GO:0060828)|skeletal muscle cell differentiation (GO:0035914)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|microtubule (GO:0005874)|nuclear envelope (GO:0005635)|nuclear inner membrane (GO:0005637)|nuclear membrane (GO:0031965)|nuclear outer membrane (GO:0005640)	actin binding (GO:0003779)|beta-tubulin binding (GO:0048487)			lung(5)	5	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					ATCCAGACTTGAATTCGACTA	0.567																																						uc004fkl.2		NA																	0					0						c.(190-192)TTG>TTC		emerin							153.0	161.0	159.0					X																	153608306		2203	4300	6503	SO:0001583	missense	2010				cellular response to growth factor stimulus|muscle contraction|muscle organ development|negative regulation of catenin import into nucleus|negative regulation of fibroblast proliferation|positive regulation of protein export from nucleus|regulation of canonical Wnt receptor signaling pathway	endoplasmic reticulum|integral to membrane|microtubule|nuclear inner membrane|nuclear outer membrane	actin binding|beta-tubulin binding	g.chrX:153608306G>C	X82434	CCDS14745.1	Xq27.3-q28	2014-09-17	2008-07-29		ENSG00000102119	ENSG00000102119			3331	protein-coding gene	gene with protein product	"""LEM domain containing 5"""	300384	"""Emery-Dreifuss muscular dystrophy"""				Standard	NM_000117		Approved	STA, LEMD5	uc004fkl.3	P50402	OTTHUMG00000033186	ENST00000369842.4:c.192G>C	X.37:g.153608306G>C	ENSP00000358857:p.Leu64Phe						p.L64F	NM_000117	NP_000108	P50402	EMD_HUMAN			3	440	+	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		64			Interaction with F-actin (Probable).		Q6FI02	Missense_Mutation	SNP	ENST00000369842.4	37	c.192G>C	CCDS14745.1	.	.	.	.	.	.	.	.	.	.	G	9.474	1.096338	0.20552	.	.	ENSG00000102119	ENST00000369842;ENST00000369835	D;D	0.86497	-1.69;-2.13	3.59	0.314	0.15847	.	0.803097	0.10458	N	0.672245	T	0.75250	0.3824	L	0.34521	1.04	0.18873	N	0.999983	P	0.48911	0.917	B	0.38655	0.278	T	0.66941	-0.5796	10	0.62326	D	0.03	-21.1189	2.0044	0.03474	0.4032:0.0:0.3354:0.2614	.	64	P50402	EMD_HUMAN	F	64;29	ENSP00000358857:L64F;ENSP00000358850:L29F	ENSP00000358850:L29F	L	+	3	2	EMD	153261500	0.427000	0.25514	0.233000	0.24025	0.022000	0.10575	-0.321000	0.08018	-0.050000	0.13356	0.436000	0.28706	TTG		0.567	EMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080921.1			69	100	0	0	0	0	69	100				
CEMIP	57214	broad.mit.edu	37	15	81171075	81171075	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr15:81171075delC	ENST00000394685.3	+	4	527	c.108delC	c.(106-108)tgcfs	p.C36fs	KIAA1199_ENST00000220244.3_Frame_Shift_Del_p.C36fs|KIAA1199_ENST00000356249.5_Frame_Shift_Del_p.C36fs			Q8WUJ3	CEMIP_HUMAN		36					hyaluronan catabolic process (GO:0030214)|positive regulation of cell migration (GO:0030335)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of protein kinase C activity (GO:1900020)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|sensory perception of sound (GO:0007605)	clathrin-coated vesicle membrane (GO:0030665)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	clathrin heavy chain binding (GO:0032050)|ER retention sequence binding (GO:0046923)|hyaluronic acid binding (GO:0005540)|hyalurononglucosaminidase activity (GO:0004415)			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						CTGCTGGGTGCCCTGACCAGA	0.582																																						uc002bfw.1		NA																	0				upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3						c.(106-108)TGCfs		KIAA1199 precursor							66.0	63.0	64.0					15																	81171075		2203	4300	6503	SO:0001589	frameshift_variant	57214							g.chr15:81171075delC																												ENST00000394685.3:c.108delC	15.37:g.81171075delC	ENSP00000378177:p.Cys36fs					KIAA1199_uc010unn.1_Frame_Shift_Del_p.C36fs	p.C36fs	NM_018689	NP_061159	Q8WUJ3	K1199_HUMAN			3	368	+			36					Q6L9J5|Q9H1K5|Q9NPN9|Q9ULM1	Frame_Shift_Del	DEL	ENST00000394685.3	37	c.108delC	CCDS10315.1																																																																																				0.582	KIAA1199-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000291389.1			11	77	NA	NA	NA	NA	11	77	---	---	---	---
COL25A1	84570	broad.mit.edu	37	4	109780855	109780856	+	Frame_Shift_Ins	INS	-	-	TGGC			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr4:109780855_109780856insTGGC	ENST00000399132.1	-	24	1806_1807	c.1276_1277insGCCA	c.(1276-1278)actfs	p.T426fs	COL25A1_ENST00000399126.1_Frame_Shift_Ins_p.T426fs|COL25A1_ENST00000399127.1_Frame_Shift_Ins_p.T407fs	NM_198721.2	NP_942014.1			collagen, type XXV, alpha 1											NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	49		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000173)		TATGATCTCAGTGGCTCCTTGA	0.51																																						uc003hze.1		NA																	0				ovary(2)	2						c.(1276-1278)ACTfs		collagen, type XXV, alpha 1 isoform 1																																				SO:0001589	frameshift_variant	84570					collagen|extracellular space	beta-amyloid binding|heparin binding	g.chr4:109780855_109780856insTGGC	AF293340	CCDS43258.1, CCDS43259.1, CCDS58922.1	4q25	2013-01-16			ENSG00000188517	ENSG00000188517		"""Collagens"""	18603	protein-coding gene	gene with protein product		610004				11927537	Standard	NM_001256074		Approved		uc003hze.2	Q9BXS0	OTTHUMG00000150039	ENST00000399132.1:c.1273_1276dupGCCA	4.37:g.109780856_109780859dupTGGC	ENSP00000382083:p.Thr426fs					COL25A1_uc003hzg.2_Frame_Shift_Ins_p.T426fs|COL25A1_uc003hzd.2_RNA|COL25A1_uc003hzf.2_Frame_Shift_Ins_p.T192fs	p.T426fs	NM_198721	NP_942014	Q9BXS0	COPA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000173)	23	1807_1808	-		Hepatocellular(203;0.217)	426			Extracellular (Potential).			Frame_Shift_Ins	INS	ENST00000399132.1	37	c.1276_1277insGCCA	CCDS43258.1																																																																																				0.510	COL25A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315938.2	NM_032518		11	70	NA	NA	NA	NA	11	70	---	---	---	---
BMP1	649	broad.mit.edu	37	8	22021060	22021061	+	5'Flank	DEL	GT	GT	-	rs149538549		TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr8:22021060_22021061delGT	ENST00000306385.5	+	0	0				SFTPC_ENST00000437090.2_Splice_Site|BMP1_ENST00000397816.3_5'Flank|SFTPC_ENST00000522109.1_Frame_Shift_Del_p.V146fs|SFTPC_ENST00000520605.1_Splice_Site|SFTPC_ENST00000524255.1_Splice_Site|BMP1_ENST00000306349.8_5'Flank|SFTPC_ENST00000521315.1_Splice_Site|BMP1_ENST00000354870.5_5'Flank|SFTPC_ENST00000318561.3_Splice_Site|BMP1_ENST00000397814.3_5'Flank	NM_006129.4	NP_006120.1	P13497	BMP1_HUMAN	bone morphogenetic protein 1						cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|lipoprotein metabolic process (GO:0042157)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|positive regulation of cartilage development (GO:0061036)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane-bounded vesicle (GO:0031988)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)|zinc ion binding (GO:0008270)	p.M146fs*41(1)		breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)		CAACTTCCAGGTGTGTGTGTGT	0.545																																						uc003xax.3		NA																	1	Unknown(1)		large_intestine(1)		0	GRCh37	CS014615|CS022505	SFTPC	S	rs149538549	c.e4+1		surfactant protein C precursor																																				SO:0001631	upstream_gene_variant	6440				respiratory gaseous exchange	extracellular space		g.chr8:22021060_22021061delGT		CCDS6026.1, CCDS34856.1	8p21	2013-02-06	2004-08-09		ENSG00000168487	ENSG00000168487	3.4.24.19	"""Bone morphogenetic proteins"""	1067	protein-coding gene	gene with protein product	"""procollagen C-endopeptidase"""	112264	"""procollagen C-endopeptidase"""	PCOLC		2004778	Standard	NM_006129		Approved		uc003xbg.3	P13497	OTTHUMG00000097761		8.37:g.22021070_22021071delGT	Exception_encountered					SFTPC_uc003xaw.3_Splice_Site_p.Q194_splice|SFTPC_uc011kza.1_Intron|SFTPC_uc003xaz.2_Splice_Site_p.Q145_splice|SFTPC_uc003xay.3_Splice_Site_p.Q145_splice|BMP1_uc011kzb.1_5'Flank|BMP1_uc003xba.2_5'Flank|BMP1_uc003xbb.2_5'Flank|BMP1_uc003xbe.2_5'Flank|BMP1_uc003xbc.2_5'Flank|BMP1_uc003xbd.2_5'Flank|BMP1_uc003xbf.2_5'Flank|BMP1_uc003xbg.2_5'Flank|BMP1_uc011kzc.1_5'Flank|BMP1_uc003xbh.2_5'Flank|BMP1_uc003xbi.2_5'Flank	p.Q145_splice	NM_003018	NP_003009	P11686	PSPC_HUMAN		Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)	4	593	+								A8K6F5|B2RN46|D3DSR0|Q13292|Q13872|Q14874|Q99421|Q99422|Q99423|Q9UL38	Splice_Site	DEL	ENST00000306385.5	37	c.435_splice	CCDS6026.1																																																																																				0.545	BMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214995.2	NM_006132		7	55	NA	NA	NA	NA	7	55	---	---	---	---
COL14A1	7373	broad.mit.edu	37	8	121180418	121180418	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr8:121180418delG	ENST00000297848.3	+	5	638	c.368delG	c.(367-369)agafs	p.R123fs	COL14A1_ENST00000432943.2_3'UTR|COL14A1_ENST00000309791.4_Frame_Shift_Del_p.R123fs|COL14A1_ENST00000537875.1_Frame_Shift_Del_p.R123fs|COL14A1_ENST00000247781.3_Frame_Shift_Del_p.R123fs	NM_021110.1	NP_066933.1			collagen, type XIV, alpha 1											NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			TTAGAAAAAAGAAAGGATCCA	0.353																																						uc003yox.2		NA																	0				ovary(4)|kidney(4)|skin(2)|pancreas(1)|central_nervous_system(1)	12						c.(367-369)AGAfs		collagen, type XIV, alpha 1 precursor							75.0	81.0	79.0					8																	121180418		2203	4300	6503	SO:0001589	frameshift_variant	7373				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging	g.chr8:121180418delG		CCDS34938.1	8q23	2013-02-11	2008-02-04		ENSG00000187955	ENSG00000187955		"""Collagens"", ""Fibronectin type III domain containing"""	2191	protein-coding gene	gene with protein product		120324	"""undulin"""	UND		1716629, 9427527	Standard	NM_021110		Approved		uc003yox.4	Q05707	OTTHUMG00000149877	ENST00000297848.3:c.368delG	8.37:g.121180418delG	ENSP00000297848:p.Arg123fs						p.R123fs	NM_021110	NP_066933	Q05707	COEA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)		5	633	+	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		123						Frame_Shift_Del	DEL	ENST00000297848.3	37	c.368delG	CCDS34938.1																																																																																				0.353	COL14A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313657.2	NM_021110		69	124	NA	NA	NA	NA	69	124	---	---	---	---
