#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_ACHILLES_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
SAMD11	148398	broad.mit.edu	37	1	877627	877627	+	Silent	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr1:877627C>A	ENST00000342066.3	+	9	1064	c.981C>A	c.(979-981)acC>acA	p.T327T		NM_152486.2	NP_689699	Q96NU1	SAM11_HUMAN	sterile alpha motif domain containing 11	327					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	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;8.75e-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)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.74e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.000472)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199)		TGTGCCAGACCCCAGGTGAGG	0.741																																							uc001abw.1		NA																	0					0						c.(979-981)ACC>ACA		sterile alpha motif domain containing 11							4.0	4.0	4.0					1																	877627		1930	3897	5827	SO:0001819	synonymous_variant	148398					nucleus		g.chr1:877627C>A	BC024295	CCDS2.2	1p36.33	2013-01-10			ENSG00000187634	ENSG00000187634		"""Sterile alpha motif (SAM) domain containing"""	28706	protein-coding gene	gene with protein product						12477932	Standard	NM_152486		Approved	MGC45873	uc001abw.1	Q96NU1	OTTHUMG00000040719	ENST00000342066.3:c.981C>A	1.37:g.877627C>A						SAMD11_uc001abx.1_Silent_p.T190T	p.T327T	NM_152486	NP_689699	Q96NU1	SAM11_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.74e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.000472)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199)	9	1061	+	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;8.75e-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)|Lung SC(97;0.128)	327					A2AA76|I7FV78|I7FV81|I7G0Z6|Q5SV96|Q5SV99|Q5SVA0|Q8N195|Q8TB59	Silent	SNP	ENST00000342066.3	37	c.981C>A	CCDS2.2	.	.	.	.	.	.	.	.	.	.	c	9.376	1.071815	0.20147	.	.	ENSG00000187634	ENST00000341065;ENST00000455979	.	.	.	3.1	1.1	0.20463	.	.	.	.	.	T	0.43700	0.1259	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.24905	-1.0147	4	.	.	.	-6.1891	2.6763	0.05082	0.2292:0.4031:0.0:0.3677	.	.	.	.	H	235;154	.	.	P	+	2	0	SAMD11	867490	0.019000	0.18553	1.000000	0.80357	0.864000	0.49448	-0.578000	0.05841	0.430000	0.26230	0.299000	0.19835	CCC		0.741	SAMD11-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276866.2	NM_152486		4	11	1	0	2.56e-06	0.009096	2.88608e-06	4	11				
MXRA8	54587	broad.mit.edu	37	1	1290476	1290476	+	Missense_Mutation	SNP	C	C	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr1:1290476C>T	ENST00000309212.6	-	5	565	c.535G>A	c.(535-537)Ggc>Agc	p.G179S	MXRA8_ENST00000477278.2_Missense_Mutation_p.G170S|MXRA8_ENST00000445648.2_Missense_Mutation_p.G179S|MXRA8_ENST00000342753.4_Missense_Mutation_p.G78S	NM_001282582.1|NM_032348.2	NP_001269511.1|NP_115724.1	Q9BRK3	MXRA8_HUMAN	matrix-remodelling associated 8	179	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)		GCGGGTGCGCCGCGCGCCACC	0.781																																							uc001aew.2		NA																	0					0						c.(535-537)GGC>AGC		matrix-remodelling associated 8 precursor							5.0	7.0	6.0					1																	1290476		1791	3655	5446	SO:0001583	missense	54587					integral to membrane		g.chr1:1290476C>T	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.535G>A	1.37:g.1290476C>T	ENSP00000307887:p.Gly179Ser					MXRA8_uc001aex.3_Missense_Mutation_p.G179S|MXRA8_uc001aey.3_Missense_Mutation_p.G179S|MXRA8_uc010nyl.1_Missense_Mutation_p.G179S|MXRA8_uc001aez.2_Missense_Mutation_p.G78S|MXRA8_uc001afa.2_Missense_Mutation_p.G170S	p.G179S	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	566	-	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)	179			Ig-like V-type 2.|Extracellular (Potential).		B3KTR6|B4DE34|Q5TA39|Q96KC3	Missense_Mutation	SNP	ENST00000309212.6	37	c.535G>A	CCDS24.1	.	.	.	.	.	.	.	.	.	.	.	15.54	2.864772	0.51482	.	.	ENSG00000162576	ENST00000309212;ENST00000378864;ENST00000342753;ENST00000445648	T;T;T	0.81078	-1.45;-1.45;-1.45	3.88	3.88	0.44766	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.116236	0.64402	U	0.000017	D	0.88833	0.6544	M	0.82517	2.595	0.41819	D	0.990016	D;D;D;D;D	0.89917	0.996;1.0;1.0;0.994;0.996	P;D;D;P;P	0.78314	0.835;0.991;0.979;0.745;0.835	D	0.90040	0.4141	10	0.72032	D	0.01	-24.7997	11.0527	0.47901	0.0:0.8112:0.1888:0.0	.	170;78;157;179;179	B3KTR6;B4DE34;B4E385;Q9BRK3-2;Q9BRK3	.;.;.;.;MXRA8_HUMAN	S	179;170;78;179	ENSP00000307887:G179S;ENSP00000344998:G78S;ENSP00000399229:G179S	ENSP00000307887:G179S	G	-	1	0	MXRA8	1280339	0.997000	0.39634	0.198000	0.23420	0.450000	0.32258	3.634000	0.54302	1.714000	0.51371	0.291000	0.19559	GGC		0.781	MXRA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008282.2	NM_032348		8	3	0	0	0	0.004482	0	8	3				
CCNL2	81669	broad.mit.edu	37	1	1325635	1325635	+	Silent	SNP	C	C	T	rs367995434		TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr1:1325635C>T	ENST00000400809.3	-	8	986	c.981G>A	c.(979-981)tcG>tcA	p.S327S	CCNL2_ENST00000505849.1_5'UTR|CCNL2_ENST00000408952.5_Silent_p.S105S	NM_030937.4	NP_112199.2	Q96S94	CCNL2_HUMAN	cyclin L2	327					regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of transcription, DNA-templated (GO:0006355)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|ovary(2)|prostate(2)	13	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;8.75e-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)|Lung SC(97;0.128)		Epithelial(90;2.03e-36)|OV - Ovarian serous cystadenocarcinoma(86;4.17e-22)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.0023)|BRCA - Breast invasive adenocarcinoma(365;0.00465)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.146)		GAGAGAACCCCGAGGTACCAT	0.592																																							uc001afi.2		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(979-981)TCG>TCA		cyclin L2 isoform A		C		2,4404	4.2+/-10.8	0,2,2201	75.0	83.0	80.0		981	-10.3	0.0	1		80	0,8592		0,0,4296	no	coding-synonymous	CCNL2	NM_030937.4		0,2,6497	TT,TC,CC		0.0,0.0454,0.0154		327/521	1325635	2,12996	2203	4296	6499	SO:0001819	synonymous_variant	81669				regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	nuclear speck	protein kinase binding	g.chr1:1325635C>T	AF251294	CCDS30557.1, CCDS30558.1	1p36.33	2014-07-03			ENSG00000221978	ENSG00000221978			20570	protein-coding gene	gene with protein product	"""cyclin S"""	613482	"""cyclin M"""	CCNM		14725631	Standard	NM_030937		Approved	ania-6b, PCEE, SB138, HLA-ISO, CCNS	uc001afi.2	Q96S94	OTTHUMG00000002917	ENST00000400809.3:c.981G>A	1.37:g.1325635C>T						CCNL2_uc010nym.1_RNA|CCNL2_uc001aff.1_Silent_p.S105S|CCNL2_uc001afg.1_Silent_p.S105S|CCNL2_uc001afh.2_3'UTR|CCNL2_uc001afj.2_3'UTR|CCNL2_uc001afk.2_3'UTR	p.S327S	NM_030937	NP_112199	Q96S94	CCNL2_HUMAN		Epithelial(90;2.03e-36)|OV - Ovarian serous cystadenocarcinoma(86;4.17e-22)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.0023)|BRCA - Breast invasive adenocarcinoma(365;0.00465)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.146)	8	1013	-	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;8.75e-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)|Lung SC(97;0.128)	327					A8K8A3|B1B152|Q5T2N5|Q5T2N6|Q6IQ12|Q7Z4Z8|Q8N3C9|Q8N3D5|Q8NHE3|Q8TEL0|Q96B00	Silent	SNP	ENST00000400809.3	37	c.981G>A	CCDS30557.1	.	.	.	.	.	.	.	.	.	.	C	4.053	0.007536	0.07866	4.54E-4	0.0	ENSG00000221978	ENST00000408952	.	.	.	5.13	-10.3	0.00346	.	.	.	.	.	T	0.30103	0.0754	.	.	.	0.53005	D	0.99996	.	.	.	.	.	.	T	0.41448	-0.9508	5	0.16896	T	0.51	.	3.9816	0.09497	0.1968:0.4074:0.1987:0.1972	.	.	.	.	R	104	.	ENSP00000386132:G104R	G	-	1	0	CCNL2	1315498	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-4.434000	0.00234	-3.773000	0.00109	-1.283000	0.01379	GGG		0.592	CCNL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008146.2	NM_030937		31	89	0	0	0	0.002445	0	31	89				
CFAP74	85452	broad.mit.edu	37	1	1857248	1857248	+	IGR	SNP	C	C	T	rs140276373		TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr1:1857248C>T								TMEM52 (6536 upstream) : C1orf222 (62314 downstream)																							ACAGACTCTCCGGCAATCACA	0.622																																							uc001aik.2		NA																	0					NA						c.(76-78)GGA>AGA		RecName: Full=Uncharacterized protein C1orf222;		C	ARG/GLY	0,4400		0,0,2200	81.0	65.0	71.0		76	-3.0	0.9	1	dbSNP_134	71	1,8571	1.2+/-3.3	0,1,4285	no	missense	C1orf222	XM_003403417.1	125	0,1,6485	TT,TC,CC		0.0117,0.0,0.0077	benign	26/306	1857248	1,12971	2200	4286	6486	SO:0001628	intergenic_variant	0							g.chr1:1857248C>T																													1.37:g.1857248C>T						uc001ail.2_Missense_Mutation_p.G26R	p.G26R							5	926	-									Missense_Mutation	SNP		37	c.76G>A		.	.	.	.	.	.	.	.	.	.	C	3.205	-0.162767	0.06502	0.0	1.17E-4	ENSG00000142609	ENST00000493964	T	0.31769	1.48	4.54	-3.03	0.05429	.	0.594556	0.16091	N	0.230049	T	0.07503	0.0189	N	0.00841	-1.15	0.31559	N	0.657718	B	0.21821	0.061	B	0.17098	0.017	T	0.20140	-1.0284	10	0.36615	T	0.2	.	5.8295	0.18572	0.0:0.4822:0.175:0.3428	.	26	Q69YW0	CA222_HUMAN	R	643	ENSP00000417061:G643R	ENSP00000417061:G643R	G	-	1	0	C1orf222	1847108	0.020000	0.18652	0.886000	0.34754	0.067000	0.16453	-0.535000	0.06142	-0.065000	0.13021	-0.474000	0.04947	GGA	0	0.622									3	68	0	0	0	0.009096	0	3	68				
LRRC47	57470	broad.mit.edu	37	1	3701738	3701738	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr1:3701738C>A	ENST00000378251.1	-	3	1134	c.1107G>T	c.(1105-1107)aaG>aaT	p.K369N	RN7SL574P_ENST00000581512.1_RNA|RP1-286D6.5_ENST00000607459.1_RNA	NM_020710.2	NP_065761.1	Q8N1G4	LRC47_HUMAN	leucine rich repeat containing 47	369							phenylalanine-tRNA ligase activity (GO:0004826)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	17	all_cancers(77;0.0375)|Ovarian(185;0.0634)|all_lung(157;0.208)|Lung NSC(156;0.21)	all_epithelial(116;1.34e-16)|all_lung(118;2.53e-06)|Lung NSC(185;0.00028)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.0743)|Ovarian(437;0.127)		Epithelial(90;5.49e-39)|OV - Ovarian serous cystadenocarcinoma(86;1.43e-22)|GBM - Glioblastoma multiforme(42;3.69e-16)|Colorectal(212;1.21e-05)|COAD - Colon adenocarcinoma(227;5.87e-05)|Kidney(185;0.000367)|BRCA - Breast invasive adenocarcinoma(365;0.000704)|KIRC - Kidney renal clear cell carcinoma(229;0.00567)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.124)		CAGCCGTCCTCTTCTCACAGA	0.617																																							uc001akx.1		NA																	0				large_intestine(1)|ovary(1)	2						c.(1105-1107)AAG>AAT		leucine rich repeat containing 47							112.0	97.0	102.0					1																	3701738		2203	4300	6503	SO:0001583	missense	57470				translation		phenylalanine-tRNA ligase activity|RNA binding	g.chr1:3701738C>A	AB033011	CCDS51.1	1p36.32	2008-02-05			ENSG00000130764	ENSG00000130764			29207	protein-coding gene	gene with protein product						10574461	Standard	NM_020710		Approved	KIAA1185, RP1-286D6.3	uc001akx.1	Q8N1G4	OTTHUMG00000003506	ENST00000378251.1:c.1107G>T	1.37:g.3701738C>A	ENSP00000367498:p.Lys369Asn						p.K369N	NM_020710	NP_065761	Q8N1G4	LRC47_HUMAN		Epithelial(90;5.49e-39)|OV - Ovarian serous cystadenocarcinoma(86;1.43e-22)|GBM - Glioblastoma multiforme(42;3.69e-16)|Colorectal(212;1.21e-05)|COAD - Colon adenocarcinoma(227;5.87e-05)|Kidney(185;0.000367)|BRCA - Breast invasive adenocarcinoma(365;0.000704)|KIRC - Kidney renal clear cell carcinoma(229;0.00567)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.124)	3	1135	-	all_cancers(77;0.0375)|Ovarian(185;0.0634)|all_lung(157;0.208)|Lung NSC(156;0.21)	all_epithelial(116;1.34e-16)|all_lung(118;2.53e-06)|Lung NSC(185;0.00028)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.0743)|Ovarian(437;0.127)	369					Q9ULN5	Missense_Mutation	SNP	ENST00000378251.1	37	c.1107G>T	CCDS51.1	.	.	.	.	.	.	.	.	.	.	C	15.64	2.894019	0.52121	.	.	ENSG00000130764	ENST00000378251	T	0.49139	0.79	4.92	3.78	0.43462	B3/B4 tRNA-binding domain (1);	0.046497	0.85682	D	0.000000	T	0.57403	0.2051	L	0.52011	1.625	0.58432	D	0.99999	D	0.76494	0.999	D	0.73708	0.981	T	0.55515	-0.8129	10	0.44086	T	0.13	-37.7099	9.0666	0.36467	0.0:0.7628:0.0:0.2372	.	369	Q8N1G4	LRC47_HUMAN	N	369	ENSP00000367498:K369N	ENSP00000367498:K369N	K	-	3	2	LRRC47	3691598	1.000000	0.71417	0.999000	0.59377	0.970000	0.65996	1.409000	0.34680	2.283000	0.76528	0.467000	0.42956	AAG		0.617	LRRC47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009744.1	NM_020710		38	63	1	0	3.05275e-18	0.003214	4.30199e-18	38	63				
UBE4B	10277	broad.mit.edu	37	1	10197236	10197236	+	Missense_Mutation	SNP	G	G	C			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr1:10197236G>C	ENST00000253251.8	+	16	2788	c.1949G>C	c.(1948-1950)aGa>aCa	p.R650T	UBE4B_ENST00000377157.3_Missense_Mutation_p.R534T|UBE4B_ENST00000343090.6_Missense_Mutation_p.R779T					ubiquitination factor E4B											NS(3)|breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(14)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	48		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)		TATATCCGCAGACTCCGGGCT	0.522																																							uc001aqs.3		NA																	0				ovary(2)|skin(2)	4						c.(2335-2337)AGA>ACA		ubiquitination factor E4B isoform 1							150.0	134.0	139.0					1																	10197236		2203	4300	6503	SO:0001583	missense	10277				apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV	cytoplasm|ubiquitin ligase complex	enzyme binding	g.chr1:10197236G>C	AF091093	CCDS110.1, CCDS41245.1	1p36.1	2013-01-28	2011-05-19		ENSG00000130939	ENSG00000130939		"""U-box domain containing"""	12500	protein-coding gene	gene with protein product		613565	"""ubiquitination factor E4B (homologous to yeast UFD2)"", ""ubiquitination factor E4B (UFD2 homolog, yeast)"""			9734811, 10089879	Standard	NM_006048		Approved	UBOX3, E4, UFD2, KIAA0684	uc001aqs.4	O95155	OTTHUMG00000001797	ENST00000253251.8:c.1949G>C	1.37:g.10197236G>C	ENSP00000253251:p.Arg650Thr					UBE4B_uc001aqr.3_Missense_Mutation_p.R650T|UBE4B_uc010oai.1_RNA|UBE4B_uc010oaj.1_Missense_Mutation_p.R234T|UBE4B_uc001aqt.1_Missense_Mutation_p.R119T	p.R779T	NM_001105562	NP_001099032	O95155	UBE4B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)	17	3049	+		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	779						Missense_Mutation	SNP	ENST00000253251.8	37	c.2336G>C	CCDS110.1	.	.	.	.	.	.	.	.	.	.	G	35	5.582519	0.96578	.	.	ENSG00000130939	ENST00000253251;ENST00000377157;ENST00000343090	T;T;T	0.40756	1.02;1.02;1.02	5.71	5.71	0.89125	Ubiquitin conjugation factor E4, core (1);	0.000000	0.85682	D	0.000000	T	0.60366	0.2263	L	0.55481	1.735	0.80722	D	1	D;D;D	0.76494	0.999;0.997;0.999	D;D;D	0.72338	0.977;0.945;0.961	T	0.49790	-0.8902	10	0.22109	T	0.4	-19.884	19.8673	0.96808	0.0:0.0:1.0:0.0	.	650;779;650	A8K8S9;O95155;O95155-2	.;UBE4B_HUMAN;.	T	650;534;779	ENSP00000253251:R650T;ENSP00000366362:R534T;ENSP00000343001:R779T	ENSP00000253251:R650T	R	+	2	0	UBE4B	10119823	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.806000	0.99153	2.709000	0.92574	0.655000	0.94253	AGA		0.522	UBE4B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005017.1	NM_006048		28	159	0	0	0	0.004289	0	28	159				
CASZ1	54897	broad.mit.edu	37	1	10713921	10713921	+	Silent	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr1:10713921C>A	ENST00000377022.3	-	11	2510	c.2193G>T	c.(2191-2193)ctG>ctT	p.L731L	RP4-734G22.3_ENST00000606802.1_RNA|CASZ1_ENST00000344008.5_Silent_p.L731L	NM_001079843.2	NP_001073312.1	Q86V15	CASZ1_HUMAN	castor zinc finger 1	731					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		TCTTGCTGCTCAGGGCGGAGA	0.701																																							uc001aro.2		NA																	0				skin(1)	1						c.(2191-2193)CTG>CTT		castor homolog 1, zinc finger isoform a							60.0	63.0	62.0					1																	10713921		2203	4300	6503	SO:0001819	synonymous_variant	54897				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	g.chr1:10713921C>A	AK000328	CCDS120.2, CCDS41246.1	1p36.22	2013-01-07	2007-02-02		ENSG00000130940	ENSG00000130940		"""Zinc fingers, C2H2-type"""	26002	protein-coding gene	gene with protein product	"""zinc finger protein 693"", ""survival related gene"""	609895	"""castor homolog 1, zinc finger (Drosophila)"""			16631614, 21252912	Standard	NM_001079843		Approved	FLJ20321, ZNF693, castor, cst, SRG	uc001aro.4	Q86V15	OTTHUMG00000002035	ENST00000377022.3:c.2193G>T	1.37:g.10713921C>A						CASZ1_uc001arp.1_Silent_p.L731L|CASZ1_uc009vmx.2_Silent_p.L755L	p.L731L	NM_001079843	NP_001073312	Q86V15	CASZ1_HUMAN	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)	11	2513	-	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	731					Q078S9|Q2EN02|Q5T9S1|Q6ZNM8|Q8WX49|Q8WX50|Q9BT16|Q9NXC6	Silent	SNP	ENST00000377022.3	37	c.2193G>T	CCDS41246.1																																																																																				0.701	CASZ1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005673.2	NM_017766		33	58	1	0	1.76056e-25	0.002852	2.63561e-25	33	58				
MTOR	2475	broad.mit.edu	37	1	11298459	11298459	+	Splice_Site	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr1:11298459C>A	ENST00000361445.4	-	12	2078	c.2002G>T	c.(2002-2004)Gac>Tac	p.D668Y		NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	668					cell growth (GO:0016049)|cellular response to hypoxia (GO:0071456)|cellular response to nutrient levels (GO:0031669)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell development (GO:0007281)|growth (GO:0040007)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of autophagy (GO:0010507)|negative regulation of cell size (GO:0045792)|negative regulation of macroautophagy (GO:0016242)|negative regulation of NFAT protein import into nucleus (GO:0051534)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|phosphatidylinositol-mediated signaling (GO:0048015)|phosphorylation (GO:0016310)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of gene expression (GO:0010628)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of carbohydrate utilization (GO:0043610)|regulation of fatty acid beta-oxidation (GO:0031998)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of protein kinase activity (GO:0045859)|regulation of Rac GTPase activity (GO:0032314)|regulation of response to food (GO:0032095)|response to amino acid (GO:0043200)|response to nutrient (GO:0007584)|response to stress (GO:0006950)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endomembrane system (GO:0012505)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|phosphatidylinositol 3-kinase complex (GO:0005942)|PML body (GO:0016605)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)	ATP binding (GO:0005524)|drug binding (GO:0008144)|kinase activity (GO:0016301)|phosphoprotein binding (GO:0051219)|protein serine/threonine kinase activity (GO:0004674)|ribosome binding (GO:0043022)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149					Everolimus(DB01590)|Pimecrolimus(DB00337)|Sirolimus(DB00877)|Temsirolimus(DB06287)	CAAGCCTTACCAGGATCTGTT	0.507																																							uc001asd.2		NA																	0				central_nervous_system(7)|lung(6)|ovary(6)|skin(3)|kidney(3)|large_intestine(2)|breast(2)	29						c.(2002-2004)GAC>TAC		FK506 binding protein 12-rapamycin associated							89.0	83.0	85.0					1																	11298459		2203	4300	6503	SO:0001630	splice_region_variant	2475				cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity	g.chr1:11298459C>A	L34075	CCDS127.1	1p36	2014-09-17	2009-05-29	2009-05-29	ENSG00000198793	ENSG00000198793			3942	protein-coding gene	gene with protein product	"""FK506 binding protein 12-rapamycin associated protein 2"", ""rapamycin target protein"", ""FKBP12-rapamycin complex-associated protein 1"", ""FKBP-rapamycin associated protein"", ""rapamycin associated protein FRAP2"", ""dJ576K7.1 (FK506 binding protein 12-rapamycin associated protein 1)"", ""rapamycin and FKBP12 target 1"", ""mammalian target of rapamycin"""	601231	"""FK506 binding protein 12-rapamycin associated protein 1"""	FRAP, FRAP2, FRAP1		8008069, 8660990	Standard	NM_004958		Approved	RAFT1, RAPT1, FLJ44809	uc001asd.3	P42345	OTTHUMG00000002001	ENST00000361445.4:c.2002+1G>T	1.37:g.11298459C>A							p.D668Y	NM_004958	NP_004949	P42345	MTOR_HUMAN			12	2123	-			668			HEAT 2.		Q4LE76|Q5TER1|Q6LE87|Q96QG3|Q9Y4I3	Missense_Mutation	SNP	ENST00000361445.4	37	c.2002G>T	CCDS127.1	.	.	.	.	.	.	.	.	.	.	C	8.606	0.887911	0.17540	.	.	ENSG00000198793	ENST00000361445;ENST00000539766	T	0.71934	-0.61	5.47	5.47	0.80525	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.71787	0.3381	M	0.79805	2.47	0.80722	D	1	P	0.41673	0.759	B	0.35240	0.198	T	0.75468	-0.3307	9	.	.	.	-6.1398	18.3127	0.90206	0.0:1.0:0.0:0.0	.	668	P42345	MTOR_HUMAN	Y	668	ENSP00000354558:D668Y	.	D	-	1	0	MTOR	11221046	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	7.266000	0.78452	2.581000	0.87130	0.563000	0.77884	GAC		0.507	MTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005558.1	NM_004958	Missense_Mutation	42	81	1	0	4.01344e-20	0.00361	5.75221e-20	42	81				
MTOR	2475	broad.mit.edu	37	1	11300539	11300539	+	Missense_Mutation	SNP	T	T	G			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr1:11300539T>G	ENST00000361445.4	-	11	1683	c.1607A>C	c.(1606-1608)cAa>cCa	p.Q536P		NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	536	Interaction with NBN.				cell growth (GO:0016049)|cellular response to hypoxia (GO:0071456)|cellular response to nutrient levels (GO:0031669)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell development (GO:0007281)|growth (GO:0040007)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of autophagy (GO:0010507)|negative regulation of cell size (GO:0045792)|negative regulation of macroautophagy (GO:0016242)|negative regulation of NFAT protein import into nucleus (GO:0051534)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|phosphatidylinositol-mediated signaling (GO:0048015)|phosphorylation (GO:0016310)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of gene expression (GO:0010628)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of carbohydrate utilization (GO:0043610)|regulation of fatty acid beta-oxidation (GO:0031998)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of protein kinase activity (GO:0045859)|regulation of Rac GTPase activity (GO:0032314)|regulation of response to food (GO:0032095)|response to amino acid (GO:0043200)|response to nutrient (GO:0007584)|response to stress (GO:0006950)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endomembrane system (GO:0012505)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|phosphatidylinositol 3-kinase complex (GO:0005942)|PML body (GO:0016605)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)	ATP binding (GO:0005524)|drug binding (GO:0008144)|kinase activity (GO:0016301)|phosphoprotein binding (GO:0051219)|protein serine/threonine kinase activity (GO:0004674)|ribosome binding (GO:0043022)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149					Everolimus(DB01590)|Pimecrolimus(DB00337)|Sirolimus(DB00877)|Temsirolimus(DB06287)	TAGCCCATCTTGAATGTCCTT	0.577																																							uc001asd.2		NA																	0				central_nervous_system(7)|lung(6)|ovary(6)|skin(3)|kidney(3)|large_intestine(2)|breast(2)	29						c.(1606-1608)CAA>CCA		FK506 binding protein 12-rapamycin associated							194.0	165.0	175.0					1																	11300539		2203	4300	6503	SO:0001583	missense	2475				cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity	g.chr1:11300539T>G	L34075	CCDS127.1	1p36	2014-09-17	2009-05-29	2009-05-29	ENSG00000198793	ENSG00000198793			3942	protein-coding gene	gene with protein product	"""FK506 binding protein 12-rapamycin associated protein 2"", ""rapamycin target protein"", ""FKBP12-rapamycin complex-associated protein 1"", ""FKBP-rapamycin associated protein"", ""rapamycin associated protein FRAP2"", ""dJ576K7.1 (FK506 binding protein 12-rapamycin associated protein 1)"", ""rapamycin and FKBP12 target 1"", ""mammalian target of rapamycin"""	601231	"""FK506 binding protein 12-rapamycin associated protein 1"""	FRAP, FRAP2, FRAP1		8008069, 8660990	Standard	NM_004958		Approved	RAFT1, RAPT1, FLJ44809	uc001asd.3	P42345	OTTHUMG00000002001	ENST00000361445.4:c.1607A>C	1.37:g.11300539T>G	ENSP00000354558:p.Gln536Pro						p.Q536P	NM_004958	NP_004949	P42345	MTOR_HUMAN			11	1728	-			536					Q4LE76|Q5TER1|Q6LE87|Q96QG3|Q9Y4I3	Missense_Mutation	SNP	ENST00000361445.4	37	c.1607A>C	CCDS127.1	.	.	.	.	.	.	.	.	.	.	T	15.96	2.986639	0.53934	.	.	ENSG00000198793	ENST00000361445;ENST00000539766	T	0.61742	0.08	5.41	5.41	0.78517	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.66809	0.2827	M	0.88640	2.97	0.80722	D	1	P	0.38978	0.652	B	0.39027	0.288	T	0.74297	-0.3711	10	0.66056	D	0.02	-5.8337	15.48	0.75517	0.0:0.0:0.0:1.0	.	536	P42345	MTOR_HUMAN	P	536	ENSP00000354558:Q536P	ENSP00000354558:Q536P	Q	-	2	0	MTOR	11223126	1.000000	0.71417	0.917000	0.36280	0.888000	0.51559	7.665000	0.83852	2.054000	0.61138	0.528000	0.53228	CAA		0.577	MTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005558.1	NM_004958		39	85	0	0	0	0.00361	0	39	85				
VPS13D	55187	broad.mit.edu	37	1	12336868	12336868	+	Missense_Mutation	SNP	G	G	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr1:12336868G>A	ENST00000358136.3	+	19	3353	c.3223G>A	c.(3223-3225)Gag>Aag	p.E1075K	VPS13D_ENST00000356315.4_Missense_Mutation_p.E1075K	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)											NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		TCTTACCAAAGAGCAAGAGTC	0.438											OREG0013110	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc001atv.2		NA																	0				ovary(4)|pancreas(1)	5						c.(3223-3225)GAG>AAG		vacuolar protein sorting 13D isoform 1							129.0	130.0	130.0					1																	12336868		2203	4300	6503	SO:0001583	missense	55187				protein localization			g.chr1:12336868G>A	AJ608774	CCDS30588.1, CCDS30589.1	1p36.21	2008-02-05	2006-04-04		ENSG00000048707	ENSG00000048707			23595	protein-coding gene	gene with protein product		608877	"""vacuolar protein sorting 13D (yeast)"""				Standard	NM_015378		Approved	FLJ10619, KIAA0453	uc001atv.3	Q5THJ4	OTTHUMG00000013155	ENST00000358136.3:c.3223G>A	1.37:g.12336868G>A	ENSP00000350854:p.Glu1075Lys		OREG0013110	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	679	VPS13D_uc001atw.2_Missense_Mutation_p.E1075K|VPS13D_uc001atx.2_Missense_Mutation_p.E263K	p.E1075K	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)	19	3364	+	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	1075						Missense_Mutation	SNP	ENST00000358136.3	37	c.3223G>A	CCDS30588.1	.	.	.	.	.	.	.	.	.	.	G	16.58	3.164311	0.57476	.	.	ENSG00000048707	ENST00000356315;ENST00000358136	T;T	0.46063	0.88;0.88	6.17	6.17	0.99709	.	0.048793	0.85682	D	0.000000	T	0.33585	0.0868	N	0.24115	0.695	0.80722	D	1	B;B	0.27559	0.066;0.181	B;B	0.21708	0.036;0.036	T	0.04191	-1.0970	10	0.35671	T	0.21	.	19.8676	0.96824	0.0:0.0:1.0:0.0	.	1075;1075	Q5THJ4-2;Q5THJ4	.;VP13D_HUMAN	K	1075	ENSP00000348666:E1075K;ENSP00000350854:E1075K	ENSP00000348666:E1075K	E	+	1	0	VPS13D	12259455	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	5.188000	0.65093	2.941000	0.99782	0.655000	0.94253	GAG		0.438	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036897.2	NM_015378		22	154	0	0	0	0.00632	0	22	154				
DHRS3	9249	broad.mit.edu	37	1	12677211	12677211	+	Missense_Mutation	SNP	C	C	T	rs147390617		TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr1:12677211C>T	ENST00000376223.2	-	1	526	c.143G>A	c.(142-144)aGa>aAa	p.R48K	DHRS3_ENST00000482265.1_5'Flank|RP11-474O21.5_ENST00000606790.1_lincRNA	NM_004753.4	NP_004744.2	O75911	DHRS3_HUMAN	dehydrogenase/reductase (SDR family) member 3	48					bone morphogenesis (GO:0060349)|cardiac septum morphogenesis (GO:0060411)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|outflow tract morphogenesis (GO:0003151)|palate development (GO:0060021)|phototransduction, visible light (GO:0007603)|regulation of ossification (GO:0030278)|retinoid metabolic process (GO:0001523)|retinol metabolic process (GO:0042572)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|photoreceptor outer segment membrane (GO:0042622)	electron carrier activity (GO:0009055)|NADP-retinol dehydrogenase activity (GO:0052650)|nucleotide binding (GO:0000166)|retinol dehydrogenase activity (GO:0004745)			cervix(1)|large_intestine(4)|lung(2)|prostate(1)|skin(1)	9	Ovarian(185;0.249)	Lung NSC(185;4.11e-05)|all_lung(284;4.58e-05)|Renal(390;0.000147)|Colorectal(325;0.000585)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|Colorectal(212;9.25e-07)|COAD - Colon adenocarcinoma(227;0.000326)|BRCA - Breast invasive adenocarcinoma(304;0.000344)|Kidney(185;0.00235)|KIRC - Kidney renal clear cell carcinoma(229;0.00656)|STAD - Stomach adenocarcinoma(313;0.00798)|READ - Rectum adenocarcinoma(331;0.0419)	Vitamin A(DB00162)	CCCGATGCCTCTCCCGCCGCC	0.701																																							uc001auc.2		NA																	0				skin(1)	1						c.(142-144)AGA>AAA		dehydrogenase/reductase (SDR family) member 3	Vitamin A(DB00162)	C	LYS/ARG	0,4404		0,0,2202	35.0	40.0	38.0		143	5.0	1.0	1	dbSNP_134	38	1,8597	1.2+/-3.3	0,1,4298	no	missense	DHRS3	NM_004753.4	26	0,1,6500	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	48/303	12677211	1,13001	2202	4299	6501	SO:0001583	missense	9249				retinol metabolic process|visual perception	integral to membrane	electron carrier activity|NADP-retinol dehydrogenase activity|nucleotide binding	g.chr1:12677211C>T	AF061741	CCDS146.1	1p36.1	2011-09-20			ENSG00000162496	ENSG00000162496	1.1.-.-	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"""	17693	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 16C, member 1"""	612830				9705317, 12226107, 19027726	Standard	XM_005263533		Approved	retSDR1, Rsdr1, SDR1, RDH17, SDR16C1	uc001auc.3	O75911	OTTHUMG00000001885	ENST00000376223.2:c.143G>A	1.37:g.12677211C>T	ENSP00000365397:p.Arg48Lys					DHRS3_uc001aub.2_5'Flank|DHRS3_uc009vnm.2_Missense_Mutation_p.R48K|DHRS3_uc001aud.3_Missense_Mutation_p.R48K	p.R48K	NM_004753	NP_004744	O75911	DHRS3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|Colorectal(212;9.25e-07)|COAD - Colon adenocarcinoma(227;0.000326)|BRCA - Breast invasive adenocarcinoma(304;0.000344)|Kidney(185;0.00235)|KIRC - Kidney renal clear cell carcinoma(229;0.00656)|STAD - Stomach adenocarcinoma(313;0.00798)|READ - Rectum adenocarcinoma(331;0.0419)	1	610	-	Ovarian(185;0.249)	Lung NSC(185;4.11e-05)|all_lung(284;4.58e-05)|Renal(390;0.000147)|Colorectal(325;0.000585)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	48					B2R7F3|Q5VUY3|Q6UY38|Q9BUC8	Missense_Mutation	SNP	ENST00000376223.2	37	c.143G>A	CCDS146.1	.	.	.	.	.	.	.	.	.	.	C	33	5.210922	0.95069	0.0	1.16E-4	ENSG00000162496	ENST00000376223	D	0.90069	-2.61	5.04	5.04	0.67666	NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.92254	0.7543	L	0.52011	1.625	0.53688	D	0.999972	D;B;D	0.76494	0.973;0.126;0.999	P;B;D	0.80764	0.856;0.241;0.994	D	0.90399	0.4401	10	0.25751	T	0.34	.	17.3719	0.87381	0.0:1.0:0.0:0.0	.	48;48;48	B2R7F3;O75911-2;O75911	.;.;DHRS3_HUMAN	K	48	ENSP00000365397:R48K	ENSP00000365397:R48K	R	-	2	0	DHRS3	12599798	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.390000	0.73204	2.317000	0.78254	0.555000	0.69702	AGA		0.701	DHRS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005318.1	NM_004753		15	76	0	0	0	0.007413	0	15	76				
PRAMEF10	343071	broad.mit.edu	37	1	12954896	12954896	+	Missense_Mutation	SNP	C	C	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr1:12954896C>T	ENST00000235347.4	-	3	466	c.387G>A	c.(385-387)atG>atA	p.M129I		NM_001039361.3	NP_001034450.2	O60809	PRA10_HUMAN	PRAME family member 10	129					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					NS(2)|breast(1)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	12	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GCCTCTTACTCATGGCCTCTG	0.522																																							uc001auo.2		NA																	0					0						c.(385-387)ATG>ATA		PRAME family member 10							53.0	57.0	56.0					1																	12954896		1913	3864	5777	SO:0001583	missense	343071							g.chr1:12954896C>T	AL049682	CCDS41255.1	1p36.21	2013-01-17			ENSG00000187545	ENSG00000187545		"""-"""	27997	protein-coding gene	gene with protein product							Standard	NM_001039361		Approved		uc001auo.3	O60809	OTTHUMG00000001981	ENST00000235347.4:c.387G>A	1.37:g.12954896C>T	ENSP00000235347:p.Met129Ile						p.M129I	NM_001039361	NP_001034450	O60809	PRA10_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	3	460	-	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)	129					Q2M1V2	Missense_Mutation	SNP	ENST00000235347.4	37	c.387G>A	CCDS41255.1	.	.	.	.	.	.	.	.	.	.	.	5.421	0.262821	0.10294	.	.	ENSG00000187545	ENST00000235347	T	0.16324	2.35	1.08	-0.0638	0.13775	.	1.612070	0.04072	N	0.308230	T	0.16514	0.0397	L	0.52126	1.63	0.09310	N	1	B	0.23128	0.08	B	0.22753	0.041	T	0.29027	-1.0025	10	0.35671	T	0.21	.	4.7994	0.13289	0.0:0.6015:0.3985:0.0	.	129	O60809	PRA10_HUMAN	I	129	ENSP00000235347:M129I	ENSP00000235347:M129I	M	-	3	0	PRAMEF10	12877483	0.000000	0.05858	0.001000	0.08648	0.070000	0.16714	-0.318000	0.08050	-0.011000	0.14247	0.194000	0.17425	ATG		0.522	PRAMEF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005512.2	XM_496342		5	110	0	0	0	0.001168	0	5	110				
PRAMEF6	440561	broad.mit.edu	37	1	13001282	13001283	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	GG	GG	-	-	GG	GG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr1:13001282_13001283GG>TT	ENST00000376189.1	-	3	499_500	c.400_401CC>AA	c.(400-402)CCa>AAa	p.P134K	PRAMEF6_ENST00000415464.2_Missense_Mutation_p.P134K|PRAMEF6_ENST00000376192.5_Intron	NM_001010889.2	NP_001010889.1	Q5VXH4	PRAM6_HUMAN	PRAME family member 6	134					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					NS(1)|kidney(1)|lung(5)|urinary_tract(2)	9	Ovarian(185;0.249)	Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GTCCTGCACTGGTGTTTTGTTC	0.505																																							uc001auq.2		NA																	0					0						c.(400-402)CCA>AAA		PRAME family member 6																																				SO:0001583	missense	440561							g.chr1:13001282_13001283GG>TT		CCDS30594.1	1p36.21	2013-01-17				ENSG00000232423		"""-"""	30583	protein-coding gene	gene with protein product							Standard	NM_001010889		Approved		uc001auq.2	Q5VXH4	OTTHUMG00000001984	ENST00000376189.1:c.400_401delinsTT	1.37:g.13001282_13001283delinsTT	ENSP00000365360:p.Pro134Lys					PRAMEF5_uc001aur.2_Intron	p.P134K	NM_001010889	NP_001010889	Q5VXH4	PRAM6_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	3	486_487	-	Ovarian(185;0.249)	Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	134					A0AUJ9	Missense_Mutation	DNP	ENST00000376189.1	37	c.400_401CC>AA	CCDS30594.1																																																																																				0.505	PRAMEF6-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_001010889		36	701	0	0	0	0.004672	0	36	701				
NBPF1	55672	broad.mit.edu	37	1	16902836	16902836	+	Missense_Mutation	SNP	T	T	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr1:16902836T>A	ENST00000430580.2	-	19	2932	c.2045A>T	c.(2044-2046)cAg>cTg	p.Q682L	NBPF1_ENST00000432949.1_Missense_Mutation_p.Q140L|NBPF1_ENST00000420031.2_5'Flank|NBPF1_ENST00000287968.8_Missense_Mutation_p.Q47L	NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	682						cytoplasm (GO:0005737)									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		GTCCTGCCCCTGGGACTTGTC	0.577																																							uc009vos.1		NA																	0					0						c.(2044-2046)CAG>CTG		hypothetical protein LOC55672							358.0	391.0	379.0					1																	16902836		1511	2706	4217	SO:0001583	missense	55672					cytoplasm		g.chr1:16902836T>A	AB051480		1p36.13	2013-01-30			ENSG00000219481	ENSG00000219481		"""neuroblastoma breakpoint family"""	26088	protein-coding gene	gene with protein product		610501				11214970, 16079250	Standard	NM_017940		Approved	FLJ20719, KIAA1693	uc001ayw.4	Q3BBV0	OTTHUMG00000002487	ENST00000430580.2:c.2045A>T	1.37:g.16902836T>A	ENSP00000474456:p.Gln682Leu					NBPF1_uc009vot.1_Intron|NBPF1_uc001ayz.1_Missense_Mutation_p.Q140L|NBPF1_uc010oce.1_Missense_Mutation_p.Q411L	p.Q682L	NM_017940	NP_060410	Q3BBV0	NBPF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)	19	2933	-			682					Q8N4E8|Q9C0H0	Missense_Mutation	SNP	ENST00000430580.2	37	c.2045A>T																																																																																					0.577	NBPF1-005	NOVEL	upstream_uORF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000106436.3	NM_017940		16	722	0	0	0	0.006122	0	16	722				
C1QA	712	broad.mit.edu	37	1	22965874	22965875	+	Missense_Mutation	DNP	GG	GG	AT			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	GG	GG	-	-	GG	GG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr1:22965874_22965875GG>AT	ENST00000374642.3	+	3	916_917	c.712_713GG>AT	c.(712-714)GGc>ATc	p.G238I	C1QA_ENST00000402322.1_Missense_Mutation_p.G238I	NM_015991.2	NP_057075.1	P02745	C1QA_HUMAN	complement component 1, q subcomponent, A chain	238	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.				cell-cell signaling (GO:0007267)|complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)	collagen trimer (GO:0005581)|complement component C1 complex (GO:0005602)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)				autonomic_ganglia(1)|liver(1)|lung(3)|skin(1)	6		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.41e-27)|Colorectal(126;1.52e-07)|COAD - Colon adenocarcinoma(152;1.12e-05)|GBM - Glioblastoma multiforme(114;1.63e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000541)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.197)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	CGTCTTCAGCGGCTTCCTCATC	0.589																																							uc001bfy.2		NA																	0					0						c.(712-714)GGC>ATC		complement component 1, q subcomponent, A chain	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)																																			SO:0001583	missense	712				cell-cell signaling|complement activation, classical pathway|innate immune response	collagen|complement component C1 complex		g.chr1:22965874_22965875GG>AT	AF135157	CCDS226.1	1p36.3-p34.1	2014-09-17	2006-02-09		ENSG00000173372	ENSG00000173372		"""Complement system"""	1241	protein-coding gene	gene with protein product		120550	"""complement component 1, q subcomponent, alpha polypeptide"""			1537612	Standard	NM_015991		Approved		uc001bfy.3	P02745	OTTHUMG00000002893	Exception_encountered	1.37:g.22965874_22965875delinsAT	ENSP00000363773:p.Gly238Ile					C1QA_uc001bfz.2_Missense_Mutation_p.G238I	p.G238I	NM_015991	NP_057075	P02745	C1QA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.41e-27)|Colorectal(126;1.52e-07)|COAD - Colon adenocarcinoma(152;1.12e-05)|GBM - Glioblastoma multiforme(114;1.63e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000541)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.197)	3	797_798	+		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	238			C1q.		B2R4X2|Q5T963	Missense_Mutation	DNP	ENST00000374642.3	37	c.712_713GG>AT	CCDS226.1																																																																																				0.589	C1QA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008087.2	NM_015991		4	40	0	0	0	0.004672	0	4	40				
E2F2	1870	broad.mit.edu	37	1	23845603	23845603	+	Nonsense_Mutation	SNP	G	G	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr1:23845603G>A	ENST00000361729.2	-	5	1183	c.757C>T	c.(757-759)Cag>Tag	p.Q253*	E2F2_ENST00000487237.1_5'UTR	NM_004091.3	NP_004082.1	Q14209	E2F2_HUMAN	E2F transcription factor 2	253	Dimerization. {ECO:0000255}.				intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|lens fiber cell apoptotic process (GO:1990086)|mitotic cell cycle (GO:0000278)|regulation of cell cycle (GO:0051726)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	core promoter binding (GO:0001047)|DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			endometrium(4)|large_intestine(2)|lung(1)|ovary(3)|skin(2)|urinary_tract(1)	13		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.52e-24)|Colorectal(126;6.25e-08)|COAD - Colon adenocarcinoma(152;3.42e-06)|GBM - Glioblastoma multiforme(114;8.98e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00102)|KIRC - Kidney renal clear cell carcinoma(1967;0.00366)|STAD - Stomach adenocarcinoma(196;0.0132)|READ - Rectum adenocarcinoma(331;0.0652)|Lung(427;0.0888)|LUSC - Lung squamous cell carcinoma(448;0.19)		CGGATATCCTGGTAAGTCACA	0.547																																							uc001bhe.1		NA																	0				ovary(2)|skin(2)	4						c.(757-759)CAG>TAG		E2F transcription factor 2							98.0	85.0	90.0					1																	23845603		2203	4300	6503	SO:0001587	stop_gained	1870				G1 phase of mitotic cell cycle|transcription initiation from RNA polymerase II promoter	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr1:23845603G>A	L22846	CCDS236.1	1p36	2008-02-05			ENSG00000007968	ENSG00000007968			3114	protein-coding gene	gene with protein product		600426				8246995, 8246996	Standard	NM_004091		Approved	E2F-2	uc001bhe.2	Q14209	OTTHUMG00000003223	ENST00000361729.2:c.757C>T	1.37:g.23845603G>A	ENSP00000355249:p.Gln253*						p.Q253*	NM_004091	NP_004082	Q14209	E2F2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.52e-24)|Colorectal(126;6.25e-08)|COAD - Colon adenocarcinoma(152;3.42e-06)|GBM - Glioblastoma multiforme(114;8.98e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00102)|KIRC - Kidney renal clear cell carcinoma(1967;0.00366)|STAD - Stomach adenocarcinoma(196;0.0132)|READ - Rectum adenocarcinoma(331;0.0652)|Lung(427;0.0888)|LUSC - Lung squamous cell carcinoma(448;0.19)	5	1185	-		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)	253			Dimerization (Potential).		B2R9W1|Q7Z6H1	Nonsense_Mutation	SNP	ENST00000361729.2	37	c.757C>T	CCDS236.1	.	.	.	.	.	.	.	.	.	.	G	43	10.142438	0.99345	.	.	ENSG00000007968	ENST00000361729	.	.	.	6.07	6.07	0.98685	.	7739.210000	0.00166	N	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	10.8268	19.2232	0.93806	0.0:0.0:1.0:0.0	.	.	.	.	X	253	.	ENSP00000355249:Q253X	Q	-	1	0	E2F2	23718190	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.803000	0.99136	2.885000	0.99019	0.650000	0.86243	CAG		0.547	E2F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008885.1	NM_004091		18	106	0	0	0	0.001882	0	18	106				
TCEB3	6924	broad.mit.edu	37	1	24077613	24077613	+	Missense_Mutation	SNP	A	A	C			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr1:24077613A>C	ENST00000418390.2	+	4	867	c.596A>C	c.(595-597)gAt>gCt	p.D199A	TCEB3_ENST00000609199.1_Missense_Mutation_p.D173A	NM_003198.2	NP_003189.2	Q14241	ELOA1_HUMAN	transcription elongation factor B (SIII), polypeptide 3 (110kDa, elongin A)	199					gene expression (GO:0010467)|positive regulation of viral transcription (GO:0050434)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.42e-24)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;4.74e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000973)|KIRC - Kidney renal clear cell carcinoma(1967;0.00334)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187)		GAGTCTTCTGATTATGGCCAT	0.493											OREG0013232	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc001bho.2		NA																	0				ovary(1)	1						c.(595-597)GAT>GCT		elongin A							152.0	137.0	142.0					1																	24077613		2203	4300	6503	SO:0001583	missense	6924				positive regulation of viral transcription|regulation of transcription from RNA polymerase II promoter|transcription elongation from RNA polymerase II promoter|viral reproduction	integral to membrane	DNA binding	g.chr1:24077613A>C	L47345	CCDS239.2	1p36.1	2010-06-22	2002-08-29		ENSG00000011007	ENSG00000011007			11620	protein-coding gene	gene with protein product		600786	"""transcription elongation factor B (SIII), polypeptide 3 (110kD, elongin A)"""			8586449, 7660129	Standard	NM_003198		Approved	SIII, TCEB3A	uc001bho.3	Q14241	OTTHUMG00000002957	ENST00000418390.2:c.596A>C	1.37:g.24077613A>C	ENSP00000395574:p.Asp199Ala		OREG0013232	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	768		p.D199A	NM_003198	NP_003189	Q14241	ELOA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.42e-24)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;4.74e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000973)|KIRC - Kidney renal clear cell carcinoma(1967;0.00334)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187)	4	656	+		Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)	199					B2R7Q8|Q8IXH1	Missense_Mutation	SNP	ENST00000418390.2	37	c.596A>C	CCDS239.2	.	.	.	.	.	.	.	.	.	.	A	16.26	3.073359	0.55646	.	.	ENSG00000011007	ENST00000418390	T	0.10860	2.83	5.74	5.74	0.90152	.	0.000000	0.64402	D	0.000003	T	0.30885	0.0779	L	0.60455	1.87	0.58432	D	0.999996	D	0.89917	1.0	D	0.83275	0.996	T	0.01205	-1.1419	10	0.72032	D	0.01	-26.7838	16.0499	0.80749	1.0:0.0:0.0:0.0	.	199	Q14241	ELOA1_HUMAN	A	199	ENSP00000395574:D199A	ENSP00000395574:D199A	D	+	2	0	TCEB3	23950200	1.000000	0.71417	0.894000	0.35097	0.967000	0.64934	6.190000	0.72057	2.193000	0.70182	0.533000	0.62120	GAT		0.493	TCEB3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000008230.2	NM_003198		50	131	0	0	0	0.00361	0	50	131				
SEPN1	57190	broad.mit.edu	37	1	26139212	26139212	+	Missense_Mutation	SNP	G	G	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr1:26139212G>A	ENST00000374315.1	+	9	1252	c.1214G>A	c.(1213-1215)cGa>cAa	p.R405Q	RP1-317E23.6_ENST00000527604.1_5'Flank|SEPN1_ENST00000354177.4_Missense_Mutation_p.R405Q|SEPN1_ENST00000361547.2_Missense_Mutation_p.R439Q	NM_206926.1	NP_996809.1	Q9NZV5	SELN_HUMAN	selenoprotein N, 1	439						endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	calcium ion binding (GO:0005509)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;0.00038)|all_lung(284;0.00051)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0505)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0421)|OV - Ovarian serous cystadenocarcinoma(117;1.26e-25)|Colorectal(126;3.01e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0143)|READ - Rectum adenocarcinoma(331;0.0649)		GCCTTCGACCGAGCCAAGGCT	0.632																																							uc010oer.1		NA																	0				ovary(2)	2						c.(1315-1317)CGA>CAA		selenoprotein N, 1 isoform 1 precursor							42.0	45.0	44.0					1																	26139212		2014	4169	6183	SO:0001583	missense	57190					endoplasmic reticulum membrane|extracellular region	protein binding	g.chr1:26139212G>A	AF166125	CCDS41282.1, CCDS41283.1	1p36.13	2014-09-17	2004-02-13		ENSG00000162430	ENSG00000162430		"""EF-hand domain containing"""	15999	protein-coding gene	gene with protein product		606210	"""rigid spine muscular dystrophy 1"""	RSMD1, MDRS1		10608886	Standard	NM_020451		Approved	selN, RSS	uc021ojl.1	Q9NZV5	OTTHUMG00000007375	ENST00000374315.1:c.1214G>A	1.37:g.26139212G>A	ENSP00000363434:p.Arg405Gln					SEPN1_uc010oes.1_Missense_Mutation_p.R405Q	p.R439Q	NM_020451	NP_065184	Q9NZV5	SELN_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0421)|OV - Ovarian serous cystadenocarcinoma(117;1.26e-25)|Colorectal(126;3.01e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0143)|READ - Rectum adenocarcinoma(331;0.0649)	12	1371	+		Colorectal(325;3.46e-05)|Lung NSC(340;0.00038)|all_lung(284;0.00051)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0505)	439					A6NJG8|A8MQ64|Q6PI70|Q969F6|Q9NUI6	Missense_Mutation	SNP	ENST00000374315.1	37	c.1316G>A	CCDS41283.1	.	.	.	.	.	.	.	.	.	.	G	14.99	2.700685	0.48307	.	.	ENSG00000162430	ENST00000361547;ENST00000354177;ENST00000374315	D;D;D	0.89875	-2.58;-2.58;-2.58	5.46	3.4	0.38934	.	0.196295	0.41823	N	0.000809	D	0.82435	0.5036	L	0.38531	1.155	0.42364	D	0.992428	B;B	0.13594	0.001;0.008	B;B	0.08055	0.003;0.002	T	0.73780	-0.3875	10	0.27785	T	0.31	0.0267	12.1084	0.53825	0.1093:0.0:0.8907:0.0	.	405;439	Q9NZV5-2;Q9NZV5	.;SELN_HUMAN	Q	439;405;405	ENSP00000355141:R439Q;ENSP00000346109:R405Q;ENSP00000363434:R405Q	ENSP00000346109:R405Q	R	+	2	0	SEPN1	26011799	1.000000	0.71417	0.999000	0.59377	0.990000	0.78478	4.112000	0.57845	0.504000	0.28082	0.563000	0.77884	CGA		0.632	SEPN1-002	KNOWN	basic|appris_candidate_longest|CCDS|seleno	protein_coding	protein_coding	OTTHUMT00000019315.2	NM_020451		8	33	0	0	0	0.000978	0	8	33				
FCN3	8547	broad.mit.edu	37	1	27695848	27695848	+	Missense_Mutation	SNP	C	C	A	rs143244488	byFrequency	TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr1:27695848C>A	ENST00000270879.4	-	8	784	c.779G>T	c.(778-780)cGa>cTa	p.R260L	MAP3K6_ENST00000493901.1_5'Flank|MAP3K6_ENST00000357582.2_5'Flank|MAP3K6_ENST00000374040.3_5'Flank|FCN3_ENST00000354982.2_Missense_Mutation_p.R249L	NM_003665.2	NP_003656.2	O75636	FCN3_HUMAN	ficolin (collagen/fibrinogen domain containing) 3	260	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				complement activation (GO:0006956)|complement activation, lectin pathway (GO:0001867)|innate immune response (GO:0045087)	blood microparticle (GO:0072562)|collagen trimer (GO:0005581)|extracellular region (GO:0005576)	carbohydrate binding (GO:0030246)	p.R260Q(1)		endometrium(2)|kidney(2)|large_intestine(1)|lung(1)|urinary_tract(1)	7		all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;1.42e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00128)|KIRC - Kidney renal clear cell carcinoma(1967;0.00155)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		GAGATTTGATCGGTAACAGGA	0.567																																							uc001boa.2		NA																	1	Substitution - Missense(1)		endometrium(1)		0						c.(778-780)CGA>CTA		ficolin 3 isoform 1 precursor							183.0	158.0	167.0					1																	27695848		2203	4300	6503	SO:0001583	missense	8547				complement activation, lectin pathway|signal transduction	collagen|extracellular space	receptor binding|sugar binding	g.chr1:27695848C>A	D88587	CCDS300.1, CCDS301.1	1p36.11	2014-09-17	2013-09-12		ENSG00000142748	ENSG00000142748		"""Fibrinogen C domain containing"""	3625	protein-coding gene	gene with protein product	"""Hakata antigen"""	604973	"""ficolin (collagen/fibrinogen domain-containing) 3 (Hakata antigen)"""			9694814, 10330454	Standard	NM_003665		Approved	FCNH, HAKA1	uc001boa.3	O75636	OTTHUMG00000005722	ENST00000270879.4:c.779G>T	1.37:g.27695848C>A	ENSP00000270879:p.Arg260Leu					MAP3K6_uc001bny.1_5'Flank|MAP3K6_uc009vsw.1_5'Flank|FCN3_uc001bob.2_Missense_Mutation_p.R249L	p.R260L	NM_003665	NP_003656	O75636	FCN3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;1.42e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00128)|KIRC - Kidney renal clear cell carcinoma(1967;0.00155)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)	8	785	-		all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	260			Fibrinogen C-terminal.		Q6IBJ5|Q8WW86	Missense_Mutation	SNP	ENST00000270879.4	37	c.779G>T	CCDS300.1	.	.	.	.	.	.	.	.	.	.	C	7.730	0.698953	0.15106	.	.	ENSG00000142748	ENST00000270879;ENST00000354982	T;T	0.76186	-1.0;-1.0	4.98	-6.36	0.01969	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 2 (1);Fibrinogen, conserved site (1);	3.067690	0.01383	N	0.013007	T	0.55878	0.1948	N	0.21324	0.655	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.06405	0.0;0.002	T	0.48340	-0.9044	10	0.10902	T	0.67	.	9.1914	0.37202	0.0:0.3172:0.1046:0.5782	.	249;260	Q6UXM4;O75636	.;FCN3_HUMAN	L	260;249	ENSP00000270879:R260L;ENSP00000347077:R249L	ENSP00000270879:R260L	R	-	2	0	FCN3	27568435	0.000000	0.05858	0.000000	0.03702	0.201000	0.24016	-4.289000	0.00259	-1.160000	0.02804	-0.254000	0.11334	CGA		0.567	FCN3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000015667.1			20	124	1	0	6.21321e-17	0.00278	8.58785e-17	20	124				
TMEM39B	55116	broad.mit.edu	37	1	32560511	32560511	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr1:32560511G>T	ENST00000336294.5	+	7	1200	c.1054G>T	c.(1054-1056)Gcc>Tcc	p.A352S	TMEM39B_ENST00000373634.4_Missense_Mutation_p.A153S|TMEM39B_ENST00000487305.1_3'UTR|TMEM39B_ENST00000456834.2_3'UTR|TMEM39B_ENST00000427288.1_Missense_Mutation_p.A237S	NM_018056.2	NP_060526.2	Q9GZU3	TM39B_HUMAN	transmembrane protein 39B	352						integral component of membrane (GO:0016021)				endometrium(2)|kidney(1)|lung(5)|ovary(1)|prostate(2)	11		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				CAAGGCCGCCGCCCATCTGGG	0.622																																							uc010ogv.1		NA																	0					0						c.(1054-1056)GCC>TCC		transmembrane protein 39B							53.0	46.0	48.0					1																	32560511		2203	4300	6503	SO:0001583	missense	55116					integral to membrane		g.chr1:32560511G>T	AL136695	CCDS351.2	1p35.1	2008-02-05			ENSG00000121775	ENSG00000121775			25510	protein-coding gene	gene with protein product						12477932	Standard	NM_018056		Approved	FLJ10315	uc010ogv.2	Q9GZU3	OTTHUMG00000004020	ENST00000336294.5:c.1054G>T	1.37:g.32560511G>T	ENSP00000338165:p.Ala352Ser					TMEM39B_uc010ogt.1_RNA|TMEM39B_uc010ogu.1_Missense_Mutation_p.A225S|TMEM39B_uc001bue.3_Missense_Mutation_p.A353S|TMEM39B_uc001buf.3_Missense_Mutation_p.A153S|TMEM39B_uc010ogw.1_Missense_Mutation_p.A153S	p.A352S	NM_018056	NP_060526	Q9GZU3	TM39B_HUMAN			7	1200	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)	352					B4DKN8|B4DQE6|B4DTN8|D3DPP4|Q6IA44	Missense_Mutation	SNP	ENST00000336294.5	37	c.1054G>T	CCDS351.2	.	.	.	.	.	.	.	.	.	.	G	22.7	4.318898	0.81469	.	.	ENSG00000121775	ENST00000336294;ENST00000373634;ENST00000427288	.	.	.	5.33	5.33	0.75918	.	0.219986	0.46442	D	0.000297	T	0.58177	0.2104	L	0.47716	1.5	0.58432	D	0.999998	B;P;B	0.47604	0.169;0.898;0.169	B;P;B	0.48524	0.058;0.58;0.058	T	0.55661	-0.8106	9	0.35671	T	0.21	-15.197	14.2659	0.66118	0.0:0.0:0.851:0.149	.	352;237;225	Q9GZU3;B4DTN8;Q9NW51	TM39B_HUMAN;.;.	S	352;153;237	.	ENSP00000338165:A352S	A	+	1	0	TMEM39B	32333098	1.000000	0.71417	0.985000	0.45067	0.966000	0.64601	9.295000	0.96095	2.645000	0.89757	0.655000	0.94253	GCC		0.622	TMEM39B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011489.2	NM_018056		4	50	1	0	0.00909568	0.009096	0.00941286	4	50				
KIAA1522	57648	broad.mit.edu	37	1	33236708	33236708	+	Nonsense_Mutation	SNP	C	C	G	rs377142667		TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr1:33236708C>G	ENST00000373480.1	+	6	1854	c.1751C>G	c.(1750-1752)tCa>tGa	p.S584*	KIAA1522_ENST00000294521.3_Intron|KIAA1522_ENST00000373481.3_Nonsense_Mutation_p.S595*|KIAA1522_ENST00000401073.2_Nonsense_Mutation_p.S643*	NM_001198972.1	NP_001185901.1	Q9P206	K1522_HUMAN	KIAA1522	584	Pro-rich.									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)				CCAGCCCCCTCAGACCGCTCT	0.622																																							uc001bvv.2		NA																	0					0						c.(1750-1752)TCA>TGA		hypothetical protein LOC57648							88.0	97.0	94.0					1																	33236708		1945	4124	6069	SO:0001587	stop_gained	57648							g.chr1:33236708C>G	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.1751C>G	1.37:g.33236708C>G	ENSP00000362579:p.Ser584*					KIAA1522_uc001bvu.1_Nonsense_Mutation_p.S643*|KIAA1522_uc010ohm.1_Nonsense_Mutation_p.S595*|KIAA1522_uc010ohn.1_Intron	p.S584*	NM_020888	NP_065939	Q9P206	K1522_HUMAN			6	1887	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)	584			Pro-rich.		B4DQU8|B5MDY0|C9JH84|Q8TCQ0	Nonsense_Mutation	SNP	ENST00000373480.1	37	c.1751C>G	CCDS55588.1	.	.	.	.	.	.	.	.	.	.	C	29.8	5.033678	0.93575	.	.	ENSG00000162522	ENST00000401073;ENST00000373481;ENST00000373480	.	.	.	3.24	2.0	0.26442	.	0.650011	0.13278	N	0.399967	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.20519	T	0.43	-2.5195	8.4436	0.32828	0.0:0.8355:0.0:0.1645	.	.	.	.	X	643;595;584	.	ENSP00000362579:S584X	S	+	2	0	KIAA1522	33009295	0.773000	0.28580	0.956000	0.39512	0.913000	0.54294	1.533000	0.36040	0.635000	0.30488	0.462000	0.41574	TCA		0.622	KIAA1522-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000022130.1			20	160	0	0	0	0.004656	0	20	160				
TMEM54	113452	broad.mit.edu	37	1	33361010	33361010	+	Silent	SNP	G	G	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr1:33361010G>A	ENST00000373463.3	-	5	609	c.490C>T	c.(490-492)Cta>Tta	p.L164L	TMEM54_ENST00000329151.5_Silent_p.L111L|TMEM54_ENST00000475208.1_5'UTR	NM_033504.2	NP_277039.1	Q969K7	TMM54_HUMAN	transmembrane protein 54	164						integral component of membrane (GO:0016021)				endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|urinary_tract(1)	6		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				CAGAGCACTAGGGCGATGCCC	0.647																																							uc001bwi.1		NA																	0					0						c.(490-492)CTA>TTA		transmembrane protein 54							37.0	32.0	34.0					1																	33361010		2203	4300	6503	SO:0001819	synonymous_variant	113452					integral to membrane		g.chr1:33361010G>A		CCDS371.1	1p35-p34	2008-02-05			ENSG00000121900	ENSG00000121900			24143	protein-coding gene	gene with protein product						9500206	Standard	NM_033504		Approved	CAC-1	uc001bwi.1	Q969K7	OTTHUMG00000004016	ENST00000373463.3:c.490C>T	1.37:g.33361010G>A						TMEM54_uc001bwj.1_Silent_p.L111L|TMEM54_uc001bwk.1_Silent_p.L144L	p.L164L	NM_033504	NP_277039	Q969K7	TMM54_HUMAN			5	604	-		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)	164			Helical; (Potential).		Q6UV18|Q8IVD0|Q9UM12	Silent	SNP	ENST00000373463.3	37	c.490C>T	CCDS371.1																																																																																				0.647	TMEM54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011474.1	NM_033504		5	51	0	0	0	0.000602	0	5	51				
CSMD2	114784	broad.mit.edu	37	1	34037242	34037242	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr1:34037242G>T	ENST00000373381.4	-	51	8023	c.7847C>A	c.(7846-7848)gCc>gAc	p.A2616D		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	2618	Sushi 16. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				CATCAGCTGGGCCTGGAACTG	0.547																																							uc001bxn.1		NA																	0				ovary(6)|skin(5)|pancreas(1)	12						c.(7852-7854)GCC>GAC		CUB and Sushi multiple domains 2							107.0	97.0	100.0					1																	34037242		2203	4300	6503	SO:0001583	missense	114784					integral to membrane|plasma membrane	protein binding	g.chr1:34037242G>T	AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373381.4:c.7847C>A	1.37:g.34037242G>T	ENSP00000362479:p.Ala2616Asp					CSMD2_uc001bxm.1_Missense_Mutation_p.A2616D	p.A2618D	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN			52	7882	-		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)	2618			Sushi 16.|Extracellular (Potential).		B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Missense_Mutation	SNP	ENST00000373381.4	37	c.7853C>A		.	.	.	.	.	.	.	.	.	.	G	22.5	4.292823	0.80914	.	.	ENSG00000121904	ENST00000373381	T	0.65178	-0.14	5.19	5.19	0.71726	Complement control module (2);Sushi/SCR/CCP (3);	0.059699	0.64402	D	0.000003	T	0.58666	0.2138	N	0.16862	0.45	0.80722	D	1	D;P	0.67145	0.996;0.932	D;P	0.70487	0.969;0.752	T	0.53697	-0.8402	10	0.07325	T	0.83	.	11.2126	0.48808	0.084:0.0:0.916:0.0	.	2618;2616	Q7Z408;E7EUA6	CSMD2_HUMAN;.	D	2616	ENSP00000362479:A2616D	ENSP00000241312:A2618D	A	-	2	0	CSMD2	33809829	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.841000	0.99482	2.427000	0.82271	0.563000	0.77884	GCC		0.547	CSMD2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_052896		73	72	1	0	1.32003e-40	0.00361	2.10081e-40	73	72				
ZMYM4	9202	broad.mit.edu	37	1	35854605	35854605	+	Silent	SNP	A	A	G			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr1:35854605A>G	ENST00000314607.6	+	14	2438	c.2358A>G	c.(2356-2358)gtA>gtG	p.V786V	ZMYM4_ENST00000373297.2_Silent_p.V697V	NM_005095.2	NP_005086.2	Q5VZL5	ZMYM4_HUMAN	zinc finger, MYM-type 4	786					cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(16)|ovary(2)|prostate(3)|skin(2)	54		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				CCAAATTGGTACAGAATAATT	0.353																																							uc001byt.2		NA																	0				large_intestine(2)|ovary(1)|kidney(1)|skin(1)	5						c.(2356-2358)GTA>GTG		zinc finger protein 262							124.0	124.0	124.0					1																	35854605		2203	4300	6503	SO:0001819	synonymous_variant	9202				multicellular organismal development		DNA binding|zinc ion binding	g.chr1:35854605A>G	AB007885	CCDS389.1	1p34-p32	2013-01-08	2005-12-19	2005-12-19	ENSG00000146463	ENSG00000146463		"""Zinc fingers, MYM type"""	13055	protein-coding gene	gene with protein product		613568	"""zinc finger protein 262"""	ZNF262		10449923	Standard	NM_005095		Approved	KIAA0425, ZNF198L3, MYM	uc001byt.3	Q5VZL5	OTTHUMG00000004241	ENST00000314607.6:c.2358A>G	1.37:g.35854605A>G						ZMYM4_uc009vuu.2_Silent_p.V754V|ZMYM4_uc001byu.2_Silent_p.V462V|ZMYM4_uc009vuv.2_Silent_p.V525V	p.V786V	NM_005095	NP_005086	Q5VZL5	ZMYM4_HUMAN			14	2438	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)	786			MYM-type 8.		A0JP19|A0JP20|O43308|Q5T5E1|Q5T5E2|Q7L3Q4	Silent	SNP	ENST00000314607.6	37	c.2358A>G	CCDS389.1	.	.	.	.	.	.	.	.	.	.	A	9.479	1.097650	0.20552	.	.	ENSG00000146463	ENST00000457946	.	.	.	4.91	3.79	0.43588	.	.	.	.	.	T	0.43787	0.1263	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.37731	-0.9693	4	.	.	.	-3.4479	1.2286	0.01938	0.5253:0.1656:0.169:0.1401	.	.	.	.	A	446	.	.	T	+	1	0	ZMYM4	35627192	0.993000	0.37304	1.000000	0.80357	0.989000	0.77384	0.377000	0.20552	0.818000	0.34468	0.477000	0.44152	ACA		0.353	ZMYM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012207.3	NM_005095		5	137	0	0	0	0.001984	0	5	137				
INPP5B	3633	broad.mit.edu	37	1	38334220	38334220	+	Missense_Mutation	SNP	C	C	G			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr1:38334220C>G	ENST00000373026.1	-	19	2494	c.2494G>C	c.(2494-2496)Gag>Cag	p.E832Q	INPP5B_ENST00000373023.2_Missense_Mutation_p.E832Q|INPP5B_ENST00000373027.1_Missense_Mutation_p.E588Q|INPP5B_ENST00000373024.3_Missense_Mutation_p.E752Q			P32019	I5P2_HUMAN	inositol polyphosphate-5-phosphatase, 75kDa	832	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				in utero embryonic development (GO:0001701)|inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol dephosphorylation (GO:0046856)|regulation of protein processing (GO:0070613)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|plasma membrane (GO:0005886)	inositol-1,4,5-trisphosphate 5-phosphatase activity (GO:0052658)|metal ion binding (GO:0046872)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)			breast(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(9)|urinary_tract(1)	15	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				ATCCAGAGCTCTTTGGGGATT	0.493																																							uc001ccg.1		NA																	0				urinary_tract(1)	1						c.(2254-2256)GAG>CAG		inositol polyphosphate-5-phosphatase, 75kDa							126.0	118.0	120.0					1																	38334220		1915	4122	6037	SO:0001583	missense	3633				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|integral to membrane|microtubule cytoskeleton	GTPase activator activity|inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding	g.chr1:38334220C>G	M74161	CCDS41306.1, CCDS72760.1	1p34	2008-02-05	2002-08-29		ENSG00000204084	ENSG00000204084	3.1.3.56		6077	protein-coding gene	gene with protein product		147264	"""inositol polyphosphate-5-phosphatase, 75kD"""			1718960	Standard	NM_005540		Approved		uc001ccg.1	P32019	OTTHUMG00000004436	ENST00000373026.1:c.2494G>C	1.37:g.38334220C>G	ENSP00000362117:p.Glu832Gln					INPP5B_uc009vvk.1_Intron|INPP5B_uc001ccf.1_Missense_Mutation_p.E588Q	p.E752Q	NM_005540	NP_005531	P32019	I5P2_HUMAN			20	2348	-	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)	832			Rho-GAP.		C9J6U5|Q5VSG9|Q5VSH0|Q5VSH1|Q658Q5|Q6P6D4|Q6PD53|Q86YE1	Missense_Mutation	SNP	ENST00000373026.1	37	c.2254G>C		.	.	.	.	.	.	.	.	.	.	C	32	5.145505	0.94603	.	.	ENSG00000204084	ENST00000373027;ENST00000373023;ENST00000373026;ENST00000373024	T;T;T;T	0.18502	2.21;2.21;2.21;2.21	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	T	0.48589	0.1508	M	0.83953	2.67	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.50533	-0.8817	10	0.87932	D	0	.	18.972	0.92718	0.0:1.0:0.0:0.0	.	752	P32019-2	.	Q	588;832;832;752	ENSP00000362118:E588Q;ENSP00000362114:E832Q;ENSP00000362117:E832Q;ENSP00000362115:E752Q	ENSP00000362114:E832Q	E	-	1	0	INPP5B	38106807	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.480000	0.81109	2.740000	0.93945	0.549000	0.68633	GAG		0.493	INPP5B-003	KNOWN	non_canonical_conserved|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000012968.1	NM_005540		15	95	0	0	0	0.006122	0	15	95				
NT5C1A	84618	broad.mit.edu	37	1	40124910	40124910	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr1:40124910C>A	ENST00000235628.1	-	6	989	c.990G>T	c.(988-990)caG>caT	p.Q330H		NM_032526.1	NP_115915.1	Q9BXI3	5NT1A_HUMAN	5'-nucleotidase, cytosolic IA	330					adenosine metabolic process (GO:0046085)|dephosphorylation (GO:0016311)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleoside metabolic process (GO:0009116)|purine nucleobase metabolic process (GO:0006144)|purine nucleoside monophosphate catabolic process (GO:0009128)|purine nucleotide catabolic process (GO:0006195)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	5'-nucleotidase activity (GO:0008253)|magnesium ion binding (GO:0000287)|nucleotide binding (GO:0000166)			breast(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)	15	Lung NSC(20;3.81e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;4.3e-17)|all cancers(16;8.48e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			CATGGAACATCTGGTCATCAA	0.607																																							uc001cdq.1		NA																	0				ovary(1)	1						c.(988-990)CAG>CAT		5'-nucleotidase, cytosolic IA							55.0	60.0	58.0					1																	40124910		2203	4300	6503	SO:0001583	missense	84618				purine base metabolic process|purine nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	cytosol	5'-nucleotidase activity|magnesium ion binding|nucleotide binding	g.chr1:40124910C>A	AF331801	CCDS440.1	1p34.3-p33	2008-07-18			ENSG00000116981	ENSG00000116981			17819	protein-coding gene	gene with protein product	"""cytosolic 5' nucleotidase, type 1A"", ""AMP-specific 5'-NT"", ""cytosolic 5'-nucleotidase IA"""	610525				11133996, 11690631	Standard	NM_032526		Approved	CN-I, CN-IA, CN1A, CN1, MGC119199, MGC119201	uc001cdq.1	Q9BXI3	OTTHUMG00000009244	ENST00000235628.1:c.990G>T	1.37:g.40124910C>A	ENSP00000235628:p.Gln330His						p.Q330H	NM_032526	NP_115915	Q9BXI3	5NT1A_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;4.3e-17)|all cancers(16;8.48e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)		6	990	-	Lung NSC(20;3.81e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	330					Q3SYB9|Q5TG98|Q9BWT8	Missense_Mutation	SNP	ENST00000235628.1	37	c.990G>T	CCDS440.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.513937	0.85389	.	.	ENSG00000116981	ENST00000235628	.	.	.	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	T	0.77232	0.4100	M	0.88450	2.955	0.80722	D	1	B	0.28783	0.222	B	0.36244	0.22	T	0.76661	-0.2877	9	0.44086	T	0.13	-1.7446	19.6491	0.95794	0.0:1.0:0.0:0.0	.	330	Q9BXI3	5NT1A_HUMAN	H	330	.	ENSP00000235628:Q330H	Q	-	3	2	NT5C1A	39897497	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.049000	0.71053	2.726000	0.93360	0.655000	0.94253	CAG		0.607	NT5C1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025626.1	NM_032526		10	53	1	0	1.33987e-11	0.008291	1.70268e-11	10	53				
RNF220	55182	broad.mit.edu	37	1	44878028	44878028	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr1:44878028G>T	ENST00000355387.2	+	2	709	c.259G>T	c.(259-261)Gat>Tat	p.D87Y	RNF220_ENST00000372247.2_Missense_Mutation_p.D87Y|RNF220_ENST00000361799.2_Missense_Mutation_p.D87Y			Q5VTB9	RN220_HUMAN	ring finger protein 220	87					protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(6)|kidney(1)|large_intestine(3)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	29						TGCCAATCGTGATTTCCCCCC	0.498																																							uc001clv.1		NA																	0				ovary(2)	2						c.(259-261)GAT>TAT		ring finger protein 220							305.0	294.0	297.0					1																	44878028		2203	4300	6503	SO:0001583	missense	55182				protein autoubiquitination	cytoplasm	ubiquitin-protein ligase activity|zinc ion binding	g.chr1:44878028G>T	AK056424	CCDS510.1	1p34.1	2008-06-13	2008-06-13	2008-06-13	ENSG00000187147	ENSG00000187147		"""RING-type (C3HC4) zinc fingers"""	25552	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 164"""	C1orf164		11042152	Standard	NM_018150		Approved	FLJ10597	uc001clv.1	Q5VTB9	OTTHUMG00000007697	ENST00000355387.2:c.259G>T	1.37:g.44878028G>T	ENSP00000347548:p.Asp87Tyr					RNF220_uc001clw.1_Missense_Mutation_p.D87Y	p.D87Y	NM_018150	NP_060620	Q5VTB9	RN220_HUMAN			2	619	+			87					B3KPJ3|B4DLZ9|E9PCS1|Q4KMX2|Q9NVP6	Missense_Mutation	SNP	ENST00000355387.2	37	c.259G>T	CCDS510.1	.	.	.	.	.	.	.	.	.	.	G	19.77	3.888937	0.72524	.	.	ENSG00000187147	ENST00000355387;ENST00000361799;ENST00000453887;ENST00000372247	.	.	.	6.05	6.05	0.98169	.	0.054880	0.64402	D	0.000001	T	0.72558	0.3475	L	0.29908	0.895	0.80722	D	1	D	0.69078	0.997	D	0.77557	0.99	T	0.73811	-0.3865	9	0.87932	D	0	.	20.6086	0.99469	0.0:0.0:1.0:0.0	.	87	Q5VTB9	RN220_HUMAN	Y	87	.	ENSP00000347548:D87Y	D	+	1	0	RNF220	44650615	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.230000	0.95299	2.880000	0.98712	0.655000	0.94253	GAT		0.498	RNF220-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000020683.4	NM_018150		81	331	1	0	1.30168e-36	0.00361	2.04898e-36	81	331				
PRDX1	5052	broad.mit.edu	37	1	45977049	45977049	+	Missense_Mutation	SNP	G	G	C			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr1:45977049G>C	ENST00000262746.1	-	6	891	c.552C>G	c.(550-552)atC>atG	p.I184M	PRDX1_ENST00000319248.8_Missense_Mutation_p.I184M|PRDX1_ENST00000372079.1_Missense_Mutation_p.I82M	NM_002574.3|NM_181696.2	NP_002565.1|NP_859047.1	Q06830	PRDX1_HUMAN	peroxiredoxin 1	184					cell proliferation (GO:0008283)|erythrocyte homeostasis (GO:0034101)|hydrogen peroxide catabolic process (GO:0042744)|natural killer cell mediated cytotoxicity (GO:0042267)|regulation of NF-kappaB import into nucleus (GO:0042345)|regulation of stress-activated MAPK cascade (GO:0032872)|removal of superoxide radicals (GO:0019430)|retina homeostasis (GO:0001895)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|nuclear euchromatin (GO:0005719)|nucleolus (GO:0005730)|nucleus (GO:0005634)|peroxisomal matrix (GO:0005782)	heme binding (GO:0020037)|peroxidase activity (GO:0004601)|poly(A) RNA binding (GO:0044822)|thioredoxin peroxidase activity (GO:0008379)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|skin(1)	12	Acute lymphoblastic leukemia(166;0.155)					CATCAGGCTTGATGGTATCAC	0.488																																							uc001cnz.2		NA																	0					0						c.(550-552)ATC>ATG		peroxiredoxin 1							194.0	201.0	198.0					1																	45977049		2203	4300	6503	SO:0001583	missense	5052				cell proliferation|cell redox homeostasis|hydrogen peroxide catabolic process|skeletal system development	melanosome|mitochondrion|nucleus	protein binding|thioredoxin peroxidase activity	g.chr1:45977049G>C	BC021683	CCDS522.1	1p34.1	2008-02-05			ENSG00000117450	ENSG00000117450			9352	protein-coding gene	gene with protein product		176763		PAGA		8496166	Standard	NM_181697		Approved	NKEFA	uc021omw.1	Q06830	OTTHUMG00000007738	ENST00000262746.1:c.552C>G	1.37:g.45977049G>C	ENSP00000262746:p.Ile184Met					PRDX1_uc001coa.2_Missense_Mutation_p.I184M|PRDX1_uc001cob.2_Missense_Mutation_p.I184M|PRDX1_uc001coc.2_Missense_Mutation_p.I184M	p.I184M	NM_181697	NP_859048	Q06830	PRDX1_HUMAN			5	584	-	Acute lymphoblastic leukemia(166;0.155)		184					B5BU26|D3DPZ8|P35703|Q2V576|Q5T154|Q5T155	Missense_Mutation	SNP	ENST00000262746.1	37	c.552C>G	CCDS522.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.053157	0.75960	.	.	ENSG00000117450	ENST00000262746;ENST00000319248;ENST00000372079	T;T;T	0.45276	0.9;0.9;0.9	5.04	5.04	0.67666	Peroxiredoxin, C-terminal (1);Thioredoxin-like fold (1);	0.053538	0.64402	D	0.000001	T	0.44222	0.1283	L	0.31065	0.9	0.80722	D	1	B	0.29136	0.234	B	0.43052	0.406	T	0.32188	-0.9916	10	0.26408	T	0.33	-13.7884	18.4088	0.90543	0.0:0.0:1.0:0.0	.	184	Q06830	PRDX1_HUMAN	M	184;184;82	ENSP00000262746:I184M;ENSP00000361152:I184M;ENSP00000361150:I82M	ENSP00000262746:I184M	I	-	3	3	PRDX1	45749636	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.734000	0.84928	2.344000	0.79699	0.462000	0.41574	ATC		0.488	PRDX1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020845.1	NM_181697		56	219	0	0	0	0.00361	0	56	219				
POMGNT1	55624	broad.mit.edu	37	1	46655023	46655023	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr1:46655023C>A	ENST00000371984.3	-	22	2059	c.1902G>T	c.(1900-1902)aaG>aaT	p.K634N	POMGNT1_ENST00000396420.3_3'UTR|POMGNT1_ENST00000371992.1_Nonsense_Mutation_p.E626*|POMGNT1_ENST00000485714.1_5'Flank|POMGNT1_ENST00000535522.1_Missense_Mutation_p.K612N|POMGNT1_ENST00000371986.3_Nonsense_Mutation_p.E626*	NM_017739.3	NP_060209	Q8WZA1	PMGT1_HUMAN	protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)	634					protein O-linked glycosylation (GO:0006493)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity (GO:0047223)			breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20	Acute lymphoblastic leukemia(166;0.155)					AGGGTGGCTTCTTCACTCTGG	0.532																																							uc001cpe.2		NA																	0				ovary(1)	1						c.(1900-1902)AAG>AAT		O-linked mannose							42.0	50.0	47.0					1																	46655023		2203	4300	6503	SO:0001583	missense	55624				protein N-linked glycosylation|protein O-linked glycosylation	Golgi membrane|integral to membrane|microsome	alpha-1,3-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity|beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity	g.chr1:46655023C>A		CCDS531.1, CCDS57995.1	1p34.1	2014-09-17	2013-07-31		ENSG00000085998	ENSG00000085998	2.4.1.-	"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	19139	protein-coding gene	gene with protein product	"""protein O-mannose beta-1,2-N-acetylglucosaminyltransferase"""	606822	"""muscle-eye-brain disease"", ""protein O-linked mannose beta1,2-N-acetylglucosaminyltransferase"""	MEB		11742540, 12788071	Standard	NM_017739		Approved	FLJ20277, MGAT1.2, LGMD2O	uc001cpg.3	Q8WZA1	OTTHUMG00000007604	ENST00000371984.3:c.1902G>T	1.37:g.46655023C>A	ENSP00000361052:p.Lys634Asn					POMGNT1_uc010olx.1_Missense_Mutation_p.K612N|POMGNT1_uc010oly.1_RNA|POMGNT1_uc010olz.1_Missense_Mutation_p.K491N|POMGNT1_uc001cpg.2_Nonsense_Mutation_p.E626*|POMGNT1_uc001cpf.2_Missense_Mutation_p.K301N	p.K634N	NM_017739	NP_060209	Q8WZA1	PMGT1_HUMAN			22	2066	-	Acute lymphoblastic leukemia(166;0.155)		634			Lumenal (Potential).		D3DQ16|Q5VST2|Q5VST3|Q9BV55|Q9H9L8|Q9NXF9|Q9NYF7	Missense_Mutation	SNP	ENST00000371984.3	37	c.1902G>T	CCDS531.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	26.8|26.8	4.771818|4.771818	0.90108|0.90108	.|.	.|.	ENSG00000085998|ENSG00000085998	ENST00000371992;ENST00000371986|ENST00000371984;ENST00000535522	.|T;T	.|0.31769	.|1.49;1.48	5.61|5.61	3.75|3.75	0.43078|0.43078	.|.	0.298613|.	0.30742|.	N|.	0.008963|.	.|T	.|0.18509	.|0.0444	N|N	0.19112|0.19112	0.55|0.55	0.80722|0.80722	D|D	1|1	.|B;B;B	.|0.27068	.|0.063;0.167;0.167	.|B;B;B	.|0.21360	.|0.031;0.023;0.034	.|T	.|0.04635	.|-1.0937	.|9	0.07990|0.31617	T|T	0.79|0.26	9.1651|9.1651	10.5097|10.5097	0.44855|0.44855	0.0:0.8481:0.0:0.1519|0.0:0.8481:0.0:0.1519	.|.	.|612;491;634	.|F5H827;B7Z7F2;Q8WZA1	.|.;.;PMGT1_HUMAN	X|N	626|634;612	.|ENSP00000361052:K634N;ENSP00000443767:K612N	ENSP00000361054:E626X|ENSP00000361052:K634N	E|K	-|-	1|3	0|2	POMGNT1|POMGNT1	46427610|46427610	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.225000|0.225000	0.24961|0.24961	3.677000|3.677000	0.54619|0.54619	0.852000|0.852000	0.35287|0.35287	0.655000|0.655000	0.94253|0.94253	GAA|AAG		0.532	POMGNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020146.1	NM_017739		21	55	1	0	3.6726e-16	0.003954	5.02803e-16	21	55				
RAD54L	8438	broad.mit.edu	37	1	46714216	46714216	+	Missense_Mutation	SNP	G	G	C			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr1:46714216G>C	ENST00000371975.4	+	2	710	c.36G>C	c.(34-36)aaG>aaC	p.K12N	RAD54L_ENST00000442598.1_Missense_Mutation_p.K12N	NM_003579.3	NP_003570.2	Q92698	RAD54_HUMAN	RAD54-like (S. cerevisiae)	12					chromosome organization (GO:0051276)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA strand renaturation (GO:0000733)|double-strand break repair via homologous recombination (GO:0000724)|meiotic nuclear division (GO:0007126)|response to drug (GO:0042493)|response to ionizing radiation (GO:0010212)	nucleus (GO:0005634)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			breast(2)|cervix(1)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	25	Acute lymphoblastic leukemia(166;0.155)	Breast(1374;0.0634)		KIRC - Kidney renal clear cell carcinoma(1967;0.000896)		AGCTGGCCAAGAGAAAACCTG	0.562								Direct reversal of damage;Homologous recombination																															uc009vye.2		NA																	0				ovary(2)|skin(1)	3						c.(34-36)AAG>AAC	Direct_reversal_of_damage|Homologous_recombination	RAD54-like protein							68.0	72.0	70.0					1																	46714216		2203	4300	6503	SO:0001583	missense	8438				meiosis	nucleus	ATP binding|DNA binding|helicase activity	g.chr1:46714216G>C	X97795	CCDS532.1	1p32	2008-02-05	2001-11-28		ENSG00000085999	ENSG00000085999			9826	protein-coding gene	gene with protein product		603615	"""RAD54 (S.cerevisiae)-like"""			8805304	Standard	NM_003579		Approved	hHR54, hRAD54, RAD54A	uc009vye.2	Q92698	OTTHUMG00000007772	ENST00000371975.4:c.36G>C	1.37:g.46714216G>C	ENSP00000361043:p.Lys12Asn					RAD54L_uc001cpl.2_Missense_Mutation_p.K12N	p.K12N	NM_001142548	NP_001136020	Q92698	RAD54_HUMAN		KIRC - Kidney renal clear cell carcinoma(1967;0.000896)	3	150	+	Acute lymphoblastic leukemia(166;0.155)	Breast(1374;0.0634)	12					Q5TE31|Q6IUY3	Missense_Mutation	SNP	ENST00000371975.4	37	c.36G>C	CCDS532.1	.	.	.	.	.	.	.	.	.	.	G	14.43	2.534536	0.45073	.	.	ENSG00000085999	ENST00000442598;ENST00000371975	D;D	0.89485	-2.52;-2.52	5.69	4.78	0.61160	.	0.049257	0.85682	D	0.000000	T	0.76176	0.3951	N	0.08118	0	0.45837	D	0.998705	B	0.14012	0.009	B	0.14023	0.01	T	0.69807	-0.5045	10	0.25751	T	0.34	-15.087	10.1434	0.42749	0.1548:0.0:0.8452:0.0	.	12	Q92698	RAD54_HUMAN	N	12	ENSP00000396113:K12N;ENSP00000361043:K12N	ENSP00000361043:K12N	K	+	3	2	RAD54L	46486803	1.000000	0.71417	1.000000	0.80357	0.861000	0.49209	1.445000	0.35079	1.548000	0.49413	0.655000	0.94253	AAG		0.562	RAD54L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021272.1	NM_003579		7	36	0	0	0	0.00308	0	7	36				
LRRC42	115353	broad.mit.edu	37	1	54427715	54427715	+	Missense_Mutation	SNP	G	G	A	rs201277575		TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr1:54427715G>A	ENST00000371370.3	+	6	1254	c.733G>A	c.(733-735)Gag>Aag	p.E245K	LRRC42_ENST00000319223.4_Missense_Mutation_p.E245K|LRRC42_ENST00000477905.1_3'UTR	NM_001256409.1	NP_001243338.1	Q9Y546	LRC42_HUMAN	leucine rich repeat containing 42	245										breast(2)|kidney(1)|large_intestine(1)|lung(5)	9						AGGTAACCCTGAGATCACAGA	0.398																																							uc001cwj.1		NA																	0					0						c.(733-735)GAG>AAG		leucine rich repeat containing 42		G	LYS/GLU	1,4405	2.1+/-5.4	0,1,2202	139.0	134.0	136.0		733	2.7	1.0	1		136	0,8600		0,0,4300	no	missense	LRRC42	NM_052940.3	56	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	245/429	54427715	1,13005	2203	4300	6503	SO:0001583	missense	115353							g.chr1:54427715G>A	AK075201	CCDS585.1	1p33-p32.1	2014-02-12			ENSG00000116212	ENSG00000116212			28792	protein-coding gene	gene with protein product						12477932	Standard	NM_001256409		Approved	MGC8974	uc001cwj.2	Q9Y546	OTTHUMG00000008436	ENST00000371370.3:c.733G>A	1.37:g.54427715G>A	ENSP00000360421:p.Glu245Lys					LRRC42_uc001cwl.1_Missense_Mutation_p.E245K|LRRC42_uc001cwk.1_Missense_Mutation_p.E245K|LRRC42_uc009vzm.1_Missense_Mutation_p.E245K	p.E245K	NM_052940	NP_443172	Q9Y546	LRC42_HUMAN			5	933	+			245			LRR 4.		D3DQ46|Q8N2Q8	Missense_Mutation	SNP	ENST00000371370.3	37	c.733G>A	CCDS585.1	.	.	.	.	.	.	.	.	.	.	G	11.64	1.697956	0.30142	2.27E-4	0.0	ENSG00000116212	ENST00000371370;ENST00000319223	T;T	0.00856	5.61;5.61	5.61	2.74	0.32292	.	0.725876	0.13245	N	0.402599	T	0.00440	0.0014	N	0.00926	-1.1	0.27623	N	0.948271	B	0.02656	0.0	B	0.06405	0.002	T	0.39603	-0.9606	10	0.10377	T	0.69	-3.5139	9.971	0.41754	0.2934:0.0:0.7066:0.0	.	245	Q9Y546	LRC42_HUMAN	K	245	ENSP00000360421:E245K;ENSP00000318185:E245K	ENSP00000318185:E245K	E	+	1	0	LRRC42	54200303	1.000000	0.71417	0.998000	0.56505	0.962000	0.63368	1.909000	0.39917	0.430000	0.26230	0.655000	0.94253	GAG		0.398	LRRC42-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023250.1	NM_052940		11	71	0	0	0	0.000978	0	11	71				
SSBP3	23648	broad.mit.edu	37	1	54722799	54722799	+	Splice_Site	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr1:54722799C>A	ENST00000371320.3	-	7	918		c.e7+1		SSBP3_ENST00000326956.7_Splice_Site|SSBP3_ENST00000357475.4_Intron|SSBP3_ENST00000417664.2_Splice_Site|SSBP3_ENST00000371319.3_Splice_Site	NM_145716.2	NP_663768.1	Q9BWW4	SSBP3_HUMAN	single stranded DNA binding protein 3						head morphogenesis (GO:0060323)|hematopoietic progenitor cell differentiation (GO:0002244)|midbrain-hindbrain boundary initiation (GO:0021547)|positive regulation of anterior head development (GO:2000744)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prechordal plate formation (GO:0021501)|protein complex assembly (GO:0006461)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|protein complex (GO:0043234)	single-stranded DNA binding (GO:0003697)			central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1)	11						AGGTACAGTACCTGGTTTCCC	0.512																																							uc001cxe.2		NA																	0					0						c.e7+1		single stranded DNA binding protein 3 isoform a							121.0	83.0	96.0					1																	54722799		2203	4299	6502	SO:0001630	splice_region_variant	23648				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	single-stranded DNA binding	g.chr1:54722799C>A		CCDS590.1, CCDS591.1, CCDS30726.1	1p32.3	2008-02-05	2001-11-28		ENSG00000157216	ENSG00000157216			15674	protein-coding gene	gene with protein product		607390	"""single-stranded DNA-binding protein 3"""			12079286	Standard	NM_145716		Approved	CSDP, SSDP, FLJ10355, SSDP1	uc001cxe.4	Q9BWW4	OTTHUMG00000008264	ENST00000371320.3:c.507+1G>T	1.37:g.54722799C>A						SSBP3_uc001cxf.2_Intron|SSBP3_uc001cxg.2_Splice_Site_p.Q142_splice	p.Q169_splice	NM_145716	NP_663768	Q9BWW4	SSBP3_HUMAN			7	805	-								A8K0A9|Q5T860|Q5T861|Q9BTM0|Q9BWW3	Splice_Site	SNP	ENST00000371320.3	37	c.507_splice	CCDS591.1	.	.	.	.	.	.	.	.	.	.	C	17.68	3.449958	0.63290	.	.	ENSG00000157216	ENST00000417664;ENST00000371320;ENST00000371319;ENST00000525990	.	.	.	4.29	4.29	0.51040	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.3259	0.87246	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SSBP3	54495387	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.602000	0.74141	2.412000	0.81896	0.655000	0.94253	.		0.512	SSBP3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022721.1	NM_018070	Intron	9	14	1	0	9.31168e-06	0.001855	1.03818e-05	9	14				
DAB1	1600	broad.mit.edu	37	1	57602315	57602315	+	Splice_Site	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr1:57602315C>A	ENST00000371231.1	-	3	242		c.e3-1		DAB1_ENST00000371234.4_Splice_Site|DAB1_ENST00000485760.1_Splice_Site|DAB1_ENST00000414851.2_Splice_Site|DAB1_ENST00000420954.2_Splice_Site|DAB1_ENST00000371230.1_Splice_Site|DAB1_ENST00000439789.2_Splice_Site|DAB1_ENST00000371236.2_Splice_Site			O75553	DAB1_HUMAN	Dab, reelin signal transducer, homolog 1 (Drosophila)						adult walking behavior (GO:0007628)|cell-cell adhesion involved in neuronal-glial interactions involved in cerebral cortex radial glia guided migration (GO:0021813)|cerebellum structural organization (GO:0021589)|dendrite development (GO:0016358)|Golgi localization (GO:0051645)|lateral motor column neuron migration (GO:0097477)|midgut development (GO:0007494)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell adhesion (GO:0007162)|negative regulation of JAK-STAT cascade (GO:0046426)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of protein kinase activity (GO:0045860)|radial glia guided migration of Purkinje cell (GO:0021942)|response to drug (GO:0042493)|small GTPase mediated signal transduction (GO:0007264)|ventral spinal cord development (GO:0021517)	apical part of cell (GO:0045177)|brush border (GO:0005903)|cytosol (GO:0005829)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						CAACAACGCCCTGTTGAAAGG	0.413																																							uc001cys.1		NA																	0				skin(2)|ovary(1)	3						c.e6-1		disabled homolog 1							59.0	58.0	58.0					1																	57602315		2203	4300	6503	SO:0001630	splice_region_variant	1600				cell differentiation|nervous system development			g.chr1:57602315C>A	BC067445	CCDS607.1	1p32-p31	2013-10-03	2013-10-03		ENSG00000173406	ENSG00000173406			2661	protein-coding gene	gene with protein product		603448	"""disabled (Drosophila) homolog 1"", ""disabled homolog 1 (Drosophila)"", ""Dab, reelin signal transducer, homolog 1 (Drosophila)"", ""Dab reelin signal transducer 1"""			9790777	Standard	NM_021080		Approved		uc001cys.1	O75553	OTTHUMG00000008391	ENST00000371231.1:c.208-1G>T	1.37:g.57602315C>A						DAB1_uc001cyt.1_Splice_Site_p.G70_splice|DAB1_uc001cyq.1_Splice_Site_p.G70_splice|DAB1_uc001cyr.1_Splice_Site_p.G70_splice|DAB1_uc009vzw.1_Splice_Site_p.G70_splice|DAB1_uc009vzx.1_Splice_Site_p.G70_splice	p.G70_splice	NM_021080	NP_066566	O75553	DAB1_HUMAN			6	882	-								A4FU90|B3KTG3|Q4LE59|Q5T6M6|Q5T6M9|Q5T835|Q5T836|Q5T837|Q6NWS9|Q6NWT0|Q6NWT1|Q9NYA8	Splice_Site	SNP	ENST00000371231.1	37	c.208_splice		.	.	.	.	.	.	.	.	.	.	C	19.39	3.817696	0.71028	.	.	ENSG00000173406	ENST00000371236;ENST00000371233;ENST00000371234;ENST00000420954;ENST00000414851;ENST00000439789;ENST00000371231;ENST00000371232;ENST00000332102;ENST00000371230	.	.	.	5.82	5.82	0.92795	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.2796	0.90094	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	DAB1	57374903	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.487000	0.81328	2.752000	0.94435	0.655000	0.94253	.		0.413	DAB1-010	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000027962.1	NM_021080	Intron	4	21	1	0	3.59834e-05	0.001168	3.95073e-05	4	21				
PTGER3	5733	broad.mit.edu	37	1	71478037	71478037	+	Missense_Mutation	SNP	G	G	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr1:71478037G>A	ENST00000306666.5	-	2	1238	c.1028C>T	c.(1027-1029)cCt>cTt	p.P343L	PTGER3_ENST00000370924.4_Missense_Mutation_p.P343L|PTGER3_ENST00000354608.5_Missense_Mutation_p.P343L|PTGER3_ENST00000370932.2_Missense_Mutation_p.P343L|PTGER3_ENST00000414819.1_Missense_Mutation_p.P343L|PTGER3_ENST00000351052.5_Missense_Mutation_p.P343L|PTGER3_ENST00000460330.1_Missense_Mutation_p.P343L|PTGER3_ENST00000356595.4_Missense_Mutation_p.P343L|PTGER3_ENST00000370931.3_Missense_Mutation_p.P343L	NM_198719.1	NP_942012.1	P43115	PE2R3_HUMAN	prostaglandin E receptor 3 (subtype EP3)	343					cell death (GO:0008219)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular receptor signaling pathway (GO:0030522)|positive regulation of fever generation (GO:0031622)|transcription, DNA-templated (GO:0006351)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|prostaglandin E receptor activity (GO:0004957)			endometrium(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25					Bimatoprost(DB00905)|Dinoprostone(DB00917)|Misoprostol(DB00929)	GTAAACCCAAGGATCCAAGAT	0.463																																							uc001dfg.1		NA																	0				pancreas(1)|lung(1)|skin(1)	3						c.(1027-1029)CCT>CTT		prostaglandin E receptor 3, subtype EP3 isoform	Bimatoprost(DB00905)						106.0	102.0	103.0					1																	71478037		2203	4300	6503	SO:0001583	missense	5733				cell death|positive regulation of fever generation|transcription, DNA-dependent	integral to plasma membrane|nuclear envelope	ligand-dependent nuclear receptor activity|prostaglandin E receptor activity	g.chr1:71478037G>A	X83863	CCDS652.1, CCDS655.1, CCDS656.1, CCDS657.1, CCDS658.1	1p31.2	2012-08-08			ENSG00000050628	ENSG00000050628		"""GPCR / Class A : Prostanoid receptors"""	9595	protein-coding gene	gene with protein product		176806				7759114, 9073510	Standard	NM_001126044		Approved	EP3	uc001dfo.3	P43115	OTTHUMG00000009399	ENST00000306666.5:c.1028C>T	1.37:g.71478037G>A	ENSP00000302313:p.Pro343Leu					PTGER3_uc001dfh.1_RNA|PTGER3_uc001dfi.1_RNA|PTGER3_uc001dfj.1_RNA|PTGER3_uc001dfk.1_Missense_Mutation_p.P343L|PTGER3_uc001dfl.1_Missense_Mutation_p.P343L|PTGER3_uc009wbm.1_Missense_Mutation_p.P343L|PTGER3_uc001dfm.1_RNA|PTGER3_uc001dfn.2_Missense_Mutation_p.P343L|PTGER3_uc009wbn.1_Missense_Mutation_p.P343L|PTGER3_uc009wbo.2_Missense_Mutation_p.P343L|PTGER3_uc001dfo.2_Missense_Mutation_p.P343L|PTGER3_uc001dfp.1_Missense_Mutation_p.P343L|PTGER3_uc001dfq.2_Missense_Mutation_p.P343L	p.P343L	NM_198714	NP_942007	P43115	PE2R3_HUMAN			2	1259	-			343			Helical; Name=7; (Potential).		B0AZN4|B1AK19|B5BUP5|O00326|Q12943|Q12944|Q12945|Q16546|Q5CZ59|Q5CZ61|Q5CZ62|Q5CZ63|Q5CZ64	Missense_Mutation	SNP	ENST00000306666.5	37	c.1028C>T	CCDS657.1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.842132	0.91197	.	.	ENSG00000050628	ENST00000370931;ENST00000370932;ENST00000351052;ENST00000460330;ENST00000370934;ENST00000354608;ENST00000356595;ENST00000414819;ENST00000306666;ENST00000370924	D;D;D;D;D;D;D;D;D	0.98807	-5.15;-5.15;-5.15;-5.15;-5.15;-5.15;-5.15;-5.15;-5.15	5.65	5.65	0.86999	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.99345	0.9770	M	0.89715	3.055	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;0.976;0.999;0.999;1.0	D	0.99301	1.0901	10	0.87932	D	0	-32.0011	19.3057	0.94161	0.0:0.0:1.0:0.0	.	343;343;343;343;343;343;343;343	Q147U0;Q6TTN3;F5H821;B1AK19;Q147X8;P43115-3;P43115-4;P43115	.;.;.;.;.;.;.;PE2R3_HUMAN	L	343	ENSP00000359969:P343L;ENSP00000359970:P343L;ENSP00000280208:P343L;ENSP00000418073:P343L;ENSP00000346624:P343L;ENSP00000349003:P343L;ENSP00000401423:P343L;ENSP00000302313:P343L;ENSP00000359962:P343L	ENSP00000302313:P343L	P	-	2	0	PTGER3	71250625	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.101000	0.94219	2.669000	0.90835	0.491000	0.48974	CCT		0.463	PTGER3-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000026076.1	NM_000957		16	11	0	0	0	0.006122	0	16	11				
SLC44A5	204962	broad.mit.edu	37	1	75699726	75699726	+	Silent	SNP	T	T	G			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr1:75699726T>G	ENST00000370855.5	-	12	911	c.798A>C	c.(796-798)atA>atC	p.I266I	SLC44A5_ENST00000535611.1_Silent_p.I136I|SLC44A5_ENST00000370859.3_Silent_p.I266I	NM_152697.4	NP_689910.2	Q8NCS7	CTL5_HUMAN	solute carrier family 44, member 5	266					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						GGCATCCAGCTATGAACCTCA	0.393																																							uc001dgu.2		NA																	0				ovary(2)|skin(2)	4						c.(796-798)ATA>ATC		solute carrier family 44, member 5 isoform A							146.0	147.0	146.0					1																	75699726		2203	4300	6503	SO:0001819	synonymous_variant	204962					integral to membrane|plasma membrane	choline transmembrane transporter activity	g.chr1:75699726T>G	BC034580	CCDS667.1, CCDS44164.1	1p31.1	2013-05-22			ENSG00000137968	ENSG00000137968		"""Solute carriers"""	28524	protein-coding gene	gene with protein product						15715662	Standard	NM_152697		Approved	MGC34032, CTL5	uc001dgu.3	Q8NCS7	OTTHUMG00000009721	ENST00000370855.5:c.798A>C	1.37:g.75699726T>G						SLC44A5_uc001dgt.2_Silent_p.I266I|SLC44A5_uc001dgs.2_Silent_p.I224I|SLC44A5_uc001dgr.2_Silent_p.I224I|SLC44A5_uc010oqz.1_Silent_p.I305I|SLC44A5_uc010ora.1_Silent_p.I260I|SLC44A5_uc010orb.1_Silent_p.I136I	p.I266I	NM_152697	NP_689910	Q8NCS7	CTL5_HUMAN			12	942	-			266			Helical; (Potential).		B5MCU3|Q4G0K0|Q8NA44|Q8NB86	Silent	SNP	ENST00000370855.5	37	c.798A>C	CCDS667.1																																																																																				0.393	SLC44A5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026921.1	NM_152697		17	48	0	0	0	0.010504	0	17	48				
BCAR3	8412	broad.mit.edu	37	1	94041662	94041662	+	Missense_Mutation	SNP	C	C	G			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr1:94041662C>G	ENST00000370244.1	-	10	1999	c.1711G>C	c.(1711-1713)Gaa>Caa	p.E571Q	BCAR3_ENST00000370243.1_Missense_Mutation_p.E571Q|BCAR3_ENST00000370247.3_Missense_Mutation_p.E480Q|BCAR3_ENST00000260502.6_Missense_Mutation_p.E571Q|BCAR3_ENST00000539242.1_Missense_Mutation_p.E247Q	NM_001261408.1	NP_001248337.1	O75815	BCAR3_HUMAN	breast cancer anti-estrogen resistance 3	571	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				lens morphogenesis in camera-type eye (GO:0002089)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|response to drug (GO:0042493)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)		guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)	25		all_lung(203;0.00145)|Lung NSC(277;0.00662)		all cancers(265;0.0126)|GBM - Glioblastoma multiforme(16;0.0467)|Epithelial(280;0.166)		CTCATCTCTTCAGAGACTCCA	0.493																																							uc001dpz.2		NA																	0				ovary(1)|lung(1)|central_nervous_system(1)	3						c.(1711-1713)GAA>CAA		breast cancer antiestrogen resistance 3							152.0	136.0	141.0					1																	94041662		2203	4300	6503	SO:0001583	missense	8412				response to drug|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity|protein binding	g.chr1:94041662C>G	U92715	CCDS745.1, CCDS58010.1	1p22.1	2013-02-14			ENSG00000137936	ENSG00000137936		"""SH2 domain containing"""	973	protein-coding gene	gene with protein product		604704				9582273	Standard	NM_001261408		Approved	NSP2, SH2D3B	uc001dpz.4	O75815	OTTHUMG00000010301	ENST00000370244.1:c.1711G>C	1.37:g.94041662C>G	ENSP00000359264:p.Glu571Gln					BCAR3_uc001dqa.2_Missense_Mutation_p.E571Q|BCAR3_uc001dqb.2_Missense_Mutation_p.E571Q|BCAR3_uc001dpx.3_Missense_Mutation_p.E247Q|BCAR3_uc001dpy.2_Missense_Mutation_p.E480Q|BCAR3_uc009wdm.1_Missense_Mutation_p.E247Q	p.E571Q	NM_003567	NP_003558	O75815	BCAR3_HUMAN		all cancers(265;0.0126)|GBM - Glioblastoma multiforme(16;0.0467)|Epithelial(280;0.166)	8	1986	-		all_lung(203;0.00145)|Lung NSC(277;0.00662)	571			Ras-GEF.		D3DT43|Q5TEW3|Q6UW40|Q9BR50	Missense_Mutation	SNP	ENST00000370244.1	37	c.1711G>C	CCDS745.1	.	.	.	.	.	.	.	.	.	.	C	18.75	3.690777	0.68271	.	.	ENSG00000137936	ENST00000370247;ENST00000260502;ENST00000370244;ENST00000370243;ENST00000539242	T;T;T;T;T	0.55588	0.51;0.51;0.51;0.51;0.51	5.71	5.71	0.89125	Guanine-nucleotide dissociation stimulator CDC25 (3);Ras guanine nucleotide exchange factor, domain (1);	0.212059	0.49305	D	0.000160	T	0.52273	0.1724	M	0.68952	2.095	0.43830	D	0.996408	D;P;D	0.65815	0.995;0.855;0.995	P;B;P	0.50270	0.636;0.39;0.636	T	0.55755	-0.8091	10	0.51188	T	0.08	-19.7833	15.3565	0.74431	0.0:0.8611:0.1389:0.0	.	351;571;480	B3KNL6;O75815;Q5TEW3	.;BCAR3_HUMAN;.	Q	480;571;571;571;247	ENSP00000359267:E480Q;ENSP00000260502:E571Q;ENSP00000359264:E571Q;ENSP00000359263:E571Q;ENSP00000441343:E247Q	ENSP00000260502:E571Q	E	-	1	0	BCAR3	93814250	0.950000	0.32346	0.734000	0.30879	0.849000	0.48306	2.002000	0.40835	2.694000	0.91930	0.655000	0.94253	GAA		0.493	BCAR3-003	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028420.1			4	72	0	0	0	0.000602	0	4	72				
ABCA4	24	broad.mit.edu	37	1	94512642	94512642	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr1:94512642G>T	ENST00000370225.3	-	19	2837	c.2751C>A	c.(2749-2751)ttC>ttA	p.F917L	ABCA4_ENST00000535735.1_Missense_Mutation_p.F843L	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	917					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)		CACGTTCAAAGAAGGAGTCTT	0.488																																							uc001dqh.2		NA																	0				ovary(4)|skin(4)|central_nervous_system(2)|upper_aerodigestive_tract(1)|breast(1)	12						c.(2749-2751)TTC>TTA		ATP-binding cassette, sub-family A member 4							96.0	105.0	102.0					1																	94512642		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.chr1:94512642G>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.2751C>A	1.37:g.94512642G>T	ENSP00000359245:p.Phe917Leu					ABCA4_uc010otn.1_Missense_Mutation_p.F843L	p.F917L	NM_000350	NP_000341	P78363	ABCA4_HUMAN		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)	19	2855	-		all_lung(203;0.000757)|Lung NSC(277;0.00335)	917			Cytoplasmic.		O15112|O60438|O60915|Q0QD48|Q4LE31	Missense_Mutation	SNP	ENST00000370225.3	37	c.2751C>A	CCDS747.1	.	.	.	.	.	.	.	.	.	.	G	6.409	0.443620	0.12164	.	.	ENSG00000198691	ENST00000370225;ENST00000535735	D;D	0.90676	-2.59;-2.71	5.62	4.7	0.59300	.	0.199508	0.53938	D	0.000055	T	0.74550	0.3731	N	0.12887	0.27	0.33857	D	0.633302	D;B	0.61697	0.99;0.003	P;B	0.52514	0.701;0.004	T	0.73139	-0.4077	10	0.07030	T	0.85	.	9.8588	0.41101	0.1561:0.0:0.8439:0.0	.	843;917	F5H6E5;P78363	.;ABCA4_HUMAN	L	917;843	ENSP00000359245:F917L;ENSP00000437682:F843L	ENSP00000359245:F917L	F	-	3	2	ABCA4	94285230	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	2.448000	0.44926	1.361000	0.45981	0.655000	0.94253	TTC		0.488	ABCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029320.1	NM_000350		29	66	1	0	3.90053e-15	0.002445	5.26154e-15	29	66				
OLFM3	118427	broad.mit.edu	37	1	102290757	102290757	+	Silent	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr1:102290757C>A	ENST00000338858.5	-	4	476	c.477G>T	c.(475-477)gtG>gtT	p.V159V	OLFM3_ENST00000462354.1_5'UTR|OLFM3_ENST00000370103.4_Silent_p.V139V|OLFM3_ENST00000536598.1_Silent_p.V64V|OLFM3_ENST00000359814.3_Silent_p.V159V			Q96PB7	NOE3_HUMAN	olfactomedin 3	159					eye photoreceptor cell development (GO:0042462)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|synapse (GO:0045202)				breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(24)|ovary(3)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	43		all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189)		all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145)		ACTGTTCCAGCACGGGGATCA	0.443																																							uc001duf.2		NA																	0				ovary(2)|skin(1)	3						c.(475-477)GTG>GTT		olfactomedin 3							99.0	94.0	96.0					1																	102290757		2203	4300	6503	SO:0001819	synonymous_variant	118427					extracellular region		g.chr1:102290757C>A	AF397392	CCDS30781.1, CCDS72832.1	1p22	2008-05-23			ENSG00000118733	ENSG00000118733			17990	protein-coding gene	gene with protein product	"""optimedin"""	607567				12019210, 16115881	Standard	NM_001288821		Approved	NOE3	uc001dug.2	Q96PB7	OTTHUMG00000010941	ENST00000338858.5:c.477G>T	1.37:g.102290757C>A						OLFM3_uc001dug.2_Silent_p.V139V|OLFM3_uc001duh.2_RNA|OLFM3_uc001dui.2_RNA|OLFM3_uc001duj.2_Silent_p.V64V|OLFM3_uc001due.2_RNA	p.V159V	NM_058170	NP_477518	Q96PB7	NOE3_HUMAN		all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145)	4	548	-		all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189)	159			Potential.		Q5T3V6|Q6IMI7|Q6IMI8|Q6IMI9|Q6IMJ1|Q8TBG1|Q96PB2|Q96PB3|Q96PB4|Q96PB5|Q96PB6	Silent	SNP	ENST00000338858.5	37	c.477G>T																																																																																					0.443	OLFM3-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000030142.1			9	23	1	0	7.03913e-09	0.001368	8.45533e-09	9	23				
PRMT6	55170	broad.mit.edu	37	1	107599563	107599563	+	Missense_Mutation	SNP	C	C	T	rs371757183		TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr1:107599563C>T	ENST00000370078.1	+	1	263	c.226C>T	c.(226-228)Cgg>Tgg	p.R76W	PRMT6_ENST00000361318.5_Missense_Mutation_p.R17W			Q96LA8	ANM6_HUMAN	protein arginine methyltransferase 6	76	SAM-dependent MTase PRMT-type. {ECO:0000255|PROSITE-ProRule:PRU01015}.				base-excision repair (GO:0006284)|histone H3-R2 methylation (GO:0034970)|histone H4-R3 methylation (GO:0043985)|histone methylation (GO:0016571)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-arginine methylation, to asymmetrical-dimethyl arginine (GO:0019919)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)	histone binding (GO:0042393)|histone methyltransferase activity (GO:0042054)|histone methyltransferase activity (H2A-R3 specific) (GO:0070612)|histone methyltransferase activity (H3-R2 specific) (GO:0070611)|histone methyltransferase activity (H4-R3 specific) (GO:0044020)|protein-arginine omega-N asymmetric methyltransferase activity (GO:0035242)|protein-arginine omega-N monomethyltransferase activity (GO:0035241)			biliary_tract(1)|breast(2)|kidney(1)|large_intestine(4)|lung(5)|urinary_tract(1)	14		all_epithelial(167;0.000429)|all_lung(203;0.00122)|Lung NSC(277;0.00185)		Lung(183;0.0305)|Epithelial(280;0.0765)|Colorectal(144;0.0998)|all cancers(265;0.14)|LUSC - Lung squamous cell carcinoma(189;0.173)|BRCA - Breast invasive adenocarcinoma(282;0.242)		GGGTATCCTTCGGAACTGGGC	0.657																																							uc010ous.1		NA																	0					0						c.(226-228)CGG>TGG		protein arginine methyltransferase 6							36.0	43.0	41.0					1																	107599563		2055	4173	6228	SO:0001583	missense	55170				base-excision repair|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	histone binding|histone methyltransferase activity (H2A-R3 specific)|histone methyltransferase activity (H3-R2 specific)|histone methyltransferase activity (H4-R3 specific)|protein-arginine omega-N asymmetric methyltransferase activity|protein-arginine omega-N monomethyltransferase activity	g.chr1:107599563C>T	AK001421	CCDS41360.1, CCDS41360.2	1p13.2	2008-02-05	2006-02-16	2006-02-16	ENSG00000198890	ENSG00000198890		"""Protein arginine methyltransferases"""	18241	protein-coding gene	gene with protein product		608274	"""HMT1 hnRNP methyltransferase-like 6 (S. cerevisiae)"""	HRMT1L6		11724789	Standard	NM_018137		Approved	FLJ10559	uc010ous.2	Q96LA8	OTTHUMG00000010964	ENST00000370078.1:c.226C>T	1.37:g.107599563C>T	ENSP00000359095:p.Arg76Trp						p.R76W	NM_018137	NP_060607	Q96LA8	ANM6_HUMAN		Lung(183;0.0305)|Epithelial(280;0.0765)|Colorectal(144;0.0998)|all cancers(265;0.14)|LUSC - Lung squamous cell carcinoma(189;0.173)|BRCA - Breast invasive adenocarcinoma(282;0.242)	1	297	+		all_epithelial(167;0.000429)|all_lung(203;0.00122)|Lung NSC(277;0.00185)	76					A3KME1|B4DID8|Q5T5Y5|Q6DKI4|Q9NVR8	Missense_Mutation	SNP	ENST00000370078.1	37	c.226C>T	CCDS41360.2	.	.	.	.	.	.	.	.	.	.	C	11.89	1.773222	0.31411	.	.	ENSG00000198890	ENST00000361318;ENST00000370078	T;T	0.24151	1.87;1.87	5.11	3.18	0.36537	.	0.413435	0.21015	N	0.081609	T	0.20820	0.0501	L	0.38838	1.175	0.26272	N	0.978416	D	0.76494	0.999	P	0.60286	0.872	T	0.04650	-1.0936	10	0.87932	D	0	-32.8989	11.8913	0.52630	0.3268:0.6732:0.0:0.0	.	76	Q96LA8	ANM6_HUMAN	W	17;76	ENSP00000355145:R17W;ENSP00000359095:R76W	ENSP00000355145:R17W	R	+	1	2	PRMT6	107401086	0.990000	0.36364	0.986000	0.45419	0.001000	0.01503	0.235000	0.17948	0.672000	0.31204	0.544000	0.68410	CGG		0.657	PRMT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030185.1	NM_018137		14	43	0	0	0	0.006122	0	14	43				
EPS8L3	79574	broad.mit.edu	37	1	110302000	110302000	+	Missense_Mutation	SNP	C	C	G			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr1:110302000C>G	ENST00000361965.4	-	5	371	c.265G>C	c.(265-267)Gac>Cac	p.D89H	EPS8L3_ENST00000369805.3_Missense_Mutation_p.D89H|EPS8L3_ENST00000494151.1_5'UTR|EPS8L3_ENST00000361852.4_Missense_Mutation_p.D89H|RP4-735C1.4_ENST00000431955.1_RNA	NM_133181.3	NP_573444.2	Q8TE67	ES8L3_HUMAN	EPS8-like 3	89						cytoplasm (GO:0005737)				breast(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	32		all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)		Lung(183;0.0245)|Colorectal(144;0.0365)|all cancers(265;0.103)|Epithelial(280;0.109)|LUSC - Lung squamous cell carcinoma(189;0.137)|COAD - Colon adenocarcinoma(174;0.141)		CGGTAAGAGTCCAGCTCCTCC	0.602																																							uc001dyr.1		NA																	0				ovary(2)|skin(1)	3						c.(265-267)GAC>CAC		epidermal growth factor receptor pathway							108.0	107.0	107.0					1																	110302000		2203	4300	6503	SO:0001583	missense	79574					cytoplasm	protein binding	g.chr1:110302000C>G	AK025175	CCDS813.1, CCDS814.1, CCDS815.1	1p13.2	2008-02-05			ENSG00000198758	ENSG00000198758			21297	protein-coding gene	gene with protein product		614989				12620401	Standard	NM_139053		Approved	FLJ21522, MGC16817	uc001dyq.2	Q8TE67	OTTHUMG00000011651	ENST00000361965.4:c.265G>C	1.37:g.110302000C>G	ENSP00000355255:p.Asp89His					EPS8L3_uc001dys.1_Missense_Mutation_p.D89H|EPS8L3_uc001dyq.1_Missense_Mutation_p.D89H|EPS8L3_uc009wfm.1_Missense_Mutation_p.D55H|EPS8L3_uc009wfn.1_Missense_Mutation_p.D55H|EPS8L3_uc009wfo.1_Missense_Mutation_p.D36H	p.D89H	NM_133181	NP_573444	Q8TE67	ES8L3_HUMAN		Lung(183;0.0245)|Colorectal(144;0.0365)|all cancers(265;0.103)|Epithelial(280;0.109)|LUSC - Lung squamous cell carcinoma(189;0.137)|COAD - Colon adenocarcinoma(174;0.141)	5	410	-		all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)	89					A8K833|Q5T8Q6|Q5T8Q7|Q5T8Q8|Q96E47|Q9H719	Missense_Mutation	SNP	ENST00000361965.4	37	c.265G>C	CCDS814.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.380437	0.82682	.	.	ENSG00000198758	ENST00000361852;ENST00000369805;ENST00000361965	T;T;T	0.49139	0.79;0.79;0.79	5.1	5.1	0.69264	Tensin phosphotyrosine-binding domain (1);	0.267225	0.43919	D	0.000508	T	0.59280	0.2182	M	0.63428	1.95	0.48040	D	0.99957	D;D;D;D	0.89917	0.997;0.999;0.999;1.0	D;D;D;D	0.74674	0.963;0.973;0.984;0.975	T	0.63189	-0.6693	10	0.87932	D	0	-20.6214	15.7847	0.78294	0.0:1.0:0.0:0.0	.	89;89;89;89	A8K2J6;Q8TE67-2;Q8TE67;Q8TE67-3	.;.;ES8L3_HUMAN;.	H	89	ENSP00000354551:D89H;ENSP00000358820:D89H;ENSP00000355255:D89H	ENSP00000354551:D89H	D	-	1	0	EPS8L3	110103523	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.984000	0.56923	2.518000	0.84900	0.655000	0.94253	GAC		0.602	EPS8L3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000032234.1	NM_024526		20	87	0	0	0	0.010504	0	20	87				
SPAG17	200162	broad.mit.edu	37	1	118574335	118574335	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr1:118574335G>T	ENST00000336338.5	-	25	3654	c.3589C>A	c.(3589-3591)Cca>Aca	p.P1197T		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	1197						cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		TCTTCTTTTGGGTGTTCTTCT	0.358																																							uc001ehk.2		NA																	0				upper_aerodigestive_tract(2)|ovary(2)|large_intestine(1)|skin(1)	6						c.(3589-3591)CCA>ACA		sperm associated antigen 17							221.0	226.0	224.0					1																	118574335		2203	4300	6503	SO:0001583	missense	200162					cilium|flagellar axoneme|microtubule		g.chr1:118574335G>T		CCDS899.1	1p12	2014-01-21			ENSG00000155761	ENSG00000155761			26620	protein-coding gene	gene with protein product							Standard	NM_206996		Approved	FLJ34497, PF6, RP4-776P7.2, CT143	uc001ehk.2	Q6Q759	OTTHUMG00000012198	ENST00000336338.5:c.3589C>A	1.37:g.118574335G>T	ENSP00000337804:p.Pro1197Thr						p.P1197T	NM_206996	NP_996879	Q6Q759	SPG17_HUMAN		Lung(183;0.0858)	25	3657	-	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)	1197					Q8NAZ1|Q9NT21	Missense_Mutation	SNP	ENST00000336338.5	37	c.3589C>A	CCDS899.1	.	.	.	.	.	.	.	.	.	.	G	0.032	-1.327399	0.01309	.	.	ENSG00000155761	ENST00000336338	T	0.28255	1.62	5.52	3.62	0.41486	.	0.638832	0.15830	N	0.242541	T	0.10078	0.0247	L	0.50333	1.59	0.25055	N	0.991108	P	0.42692	0.787	B	0.39258	0.295	T	0.09443	-1.0674	10	0.20046	T	0.44	.	5.7515	0.18150	0.1456:0.336:0.5184:0.0	.	1197	Q6Q759	SPG17_HUMAN	T	1197	ENSP00000337804:P1197T	ENSP00000337804:P1197T	P	-	1	0	SPAG17	118375858	0.300000	0.24435	0.873000	0.34254	0.554000	0.35429	0.309000	0.19332	1.307000	0.44944	0.655000	0.94253	CCA		0.358	SPAG17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033723.1	NM_206996		10	32	1	0	2.80697e-09	0.000978	3.38784e-09	10	32				
PHGDH	26227	broad.mit.edu	37	1	120284452	120284452	+	Missense_Mutation	SNP	G	G	C			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr1:120284452G>C	ENST00000369409.4	+	10	1277	c.1141G>C	c.(1141-1143)Gag>Cag	p.E381Q	PHGDH_ENST00000369407.3_Missense_Mutation_p.E347Q|PHGDH_ENST00000482968.1_3'UTR	NM_006623.3	NP_006614.2	O43175	SERA_HUMAN	phosphoglycerate dehydrogenase	381					brain development (GO:0007420)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|G1 to G0 transition (GO:0070314)|gamma-aminobutyric acid metabolic process (GO:0009448)|glial cell development (GO:0021782)|glutamine metabolic process (GO:0006541)|glycine metabolic process (GO:0006544)|L-serine biosynthetic process (GO:0006564)|neural tube development (GO:0021915)|neuron projection development (GO:0031175)|regulation of gene expression (GO:0010468)|small molecule metabolic process (GO:0044281)|spinal cord development (GO:0021510)|taurine metabolic process (GO:0019530)|threonine metabolic process (GO:0006566)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	electron carrier activity (GO:0009055)|NAD binding (GO:0051287)|phosphoglycerate dehydrogenase activity (GO:0004617)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	18	all_cancers(5;1.18e-09)|all_epithelial(5;2.16e-10)|Melanoma(3;1.93e-05)|all_neural(166;0.219)	all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0347)		Lung(183;0.0111)|LUSC - Lung squamous cell carcinoma(189;0.0593)		CCTCCTGAAAGAGGCTTCCAA	0.577																																							uc001ehz.2		NA																	0				ovary(1)	1						c.(1141-1143)GAG>CAG		phosphoglycerate dehydrogenase	NADH(DB00157)						86.0	78.0	81.0					1																	120284452		2203	4300	6503	SO:0001583	missense	26227				brain development|L-serine biosynthetic process		electron carrier activity|NAD binding|phosphoglycerate dehydrogenase activity	g.chr1:120284452G>C	BC011262	CCDS904.1	1p12	2008-02-05			ENSG00000092621	ENSG00000092621	1.1.1.95		8923	protein-coding gene	gene with protein product		606879					Standard	NM_006623		Approved	SERA, PGDH, PDG	uc001ehz.3	O43175	OTTHUMG00000012100	ENST00000369409.4:c.1141G>C	1.37:g.120284452G>C	ENSP00000358417:p.Glu381Gln					PHGDH_uc009whm.2_Missense_Mutation_p.E279Q|PHGDH_uc001eia.2_Missense_Mutation_p.E380Q|PHGDH_uc009whn.2_Intron|PHGDH_uc001eib.2_Missense_Mutation_p.E347Q|PHGDH_uc001eic.2_5'Flank	p.E381Q	NM_006623	NP_006614	O43175	SERA_HUMAN		Lung(183;0.0111)|LUSC - Lung squamous cell carcinoma(189;0.0593)	10	1368	+	all_cancers(5;1.18e-09)|all_epithelial(5;2.16e-10)|Melanoma(3;1.93e-05)|all_neural(166;0.219)	all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0347)	381					B2RD08|Q5SZU3|Q9BQ01	Missense_Mutation	SNP	ENST00000369409.4	37	c.1141G>C	CCDS904.1	.	.	.	.	.	.	.	.	.	.	.	6.355	0.433682	0.12045	.	.	ENSG00000092621	ENST00000369409;ENST00000537497;ENST00000369407	D;D	0.85955	-2.05;-2.05	5.54	3.56	0.40772	.	1.072590	0.06976	N	0.819069	T	0.65760	0.2722	L	0.40543	1.245	0.09310	N	0.99999	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.06405	0.002;0.002;0.002;0.001	T	0.58142	-0.7688	10	0.38643	T	0.18	-0.9332	8.1557	0.31167	0.0838:0.0:0.7593:0.1569	.	347;347;254;381	B3KSC3;Q5SZU1;F5H634;O43175	.;.;.;SERA_HUMAN	Q	381;254;347	ENSP00000358417:E381Q;ENSP00000358415:E347Q	ENSP00000358415:E347Q	E	+	1	0	PHGDH	120085975	0.331000	0.24713	0.603000	0.28903	0.413000	0.31143	1.827000	0.39102	1.348000	0.45733	0.655000	0.94253	GAG		0.577	PHGDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033464.1	NM_006623		12	45	0	0	0	0.003163	0	12	45				
NOTCH2	4853	broad.mit.edu	37	1	120458346	120458346	+	Silent	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr1:120458346C>A	ENST00000256646.2	-	34	7218	c.6999G>T	c.(6997-6999)gcG>gcT	p.A2333A		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	2333					apoptotic process (GO:0006915)|atrial septum morphogenesis (GO:0060413)|bone remodeling (GO:0046849)|cell cycle arrest (GO:0007050)|cell fate determination (GO:0001709)|cell growth (GO:0016049)|ciliary body morphogenesis (GO:0061073)|determination of left/right symmetry (GO:0007368)|embryonic limb morphogenesis (GO:0030326)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|intracellular receptor signaling pathway (GO:0030522)|morphogenesis of an epithelial sheet (GO:0002011)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|placenta blood vessel development (GO:0060674)|positive regulation of apoptotic process (GO:0043065)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Ras protein signal transduction (GO:0046579)|pulmonary valve morphogenesis (GO:0003184)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cilium (GO:0005929)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|ligand-activated RNA polymerase II transcription factor binding transcription factor activity (GO:0038049)|receptor activity (GO:0004872)	p.A2333A(1)		breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		GCAGGGGGCCCGCAACAGCTG	0.627			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome																														uc001eik.2		NA		Dom	yes		1	1p13-p11	4853	N|F|Mis	Notch homolog 2			L			marginal zone lymphoma|DLBCL		1	Substitution - coding silent(1)		lung(1)	lung(8)|haematopoietic_and_lymphoid_tissue(7)|ovary(4)|central_nervous_system(2)|skin(2)|kidney(2)|breast(1)|prostate(1)	27						c.(6997-6999)GCG>GCT		notch 2 preproprotein							59.0	71.0	67.0					1																	120458346		2203	4300	6503	SO:0001819	synonymous_variant	4853	Alagille_Syndrome	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity	g.chr1:120458346C>A	AF315356	CCDS908.1	1p13-p11	2013-01-10	2010-06-24		ENSG00000134250	ENSG00000134250		"""Ankyrin repeat domain containing"""	7882	protein-coding gene	gene with protein product		600275	"""Notch (Drosophila) homolog 2"", ""Notch homolog 2 (Drosophila)"""			7698746	Standard	NM_001200001		Approved		uc001eik.3	Q04721	OTTHUMG00000012177	ENST00000256646.2:c.6999G>T	1.37:g.120458346C>A							p.A2333A	NM_024408	NP_077719	Q04721	NOTC2_HUMAN		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)	34	7255	-	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)	2333			Cytoplasmic (Potential).		Q5T3X7|Q99734|Q9H240	Silent	SNP	ENST00000256646.2	37	c.6999G>T	CCDS908.1																																																																																				0.627	NOTCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033679.1	NM_024408		45	71	1	0	2.56175e-15	0.00361	3.46024e-15	45	71				
PIAS3	10401	broad.mit.edu	37	1	145580549	145580549	+	Silent	SNP	A	A	G			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr1:145580549A>G	ENST00000393045.2	+	7	939	c.849A>G	c.(847-849)ggA>ggG	p.G283G	PIAS3_ENST00000369298.1_Silent_p.G248G|PIAS3_ENST00000369299.3_3'UTR	NM_006099.3	NP_006090.2	Q9Y6X2	PIAS3_HUMAN	protein inhibitor of activated STAT, 3	283					positive regulation of gene expression (GO:0010628)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein sumoylation (GO:0033235)|protein sumoylation (GO:0016925)|regulation of transcription, DNA-templated (GO:0006355)|response to hormone (GO:0009725)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|nucleus (GO:0005634)|synapse (GO:0045202)	enzyme binding (GO:0019899)|nucleic acid binding (GO:0003676)|potassium channel regulator activity (GO:0015459)|protein C-terminus binding (GO:0008022)|SUMO ligase activity (GO:0019789)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)	28	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TGACTGCAGGAACCCTTCTAC	0.522																																							uc001eoc.1		NA																	0				ovary(1)	1						c.(847-849)GGA>GGG		protein inhibitor of activated STAT, 3							120.0	107.0	111.0					1																	145580549		2203	4300	6503	SO:0001819	synonymous_variant	10401				positive regulation of protein sumoylation|protein sumoylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck	enzyme binding|nucleic acid binding|protein C-terminus binding|zinc ion binding	g.chr1:145580549A>G	AB021868	CCDS72866.1	1q21	2011-10-11			ENSG00000131788	ENSG00000131788		"""Zinc fingers, MIZ-type"""	16861	protein-coding gene	gene with protein product	"""zinc finger, MIZ-type containing 5"""	605987				10319586	Standard	NM_006099		Approved	FLJ14651, ZMIZ5	uc001eoc.1	Q9Y6X2	OTTHUMG00000013750	ENST00000393045.2:c.849A>G	1.37:g.145580549A>G						NBPF10_uc001emp.3_Intron|PIAS3_uc010oyy.1_3'UTR|PIAS3_uc001eod.1_5'UTR	p.G283G	NM_006099	NP_006090	Q9Y6X2	PIAS3_HUMAN			7	940	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		283					Q9UFI3	Silent	SNP	ENST00000393045.2	37	c.849A>G	CCDS920.2																																																																																				0.522	PIAS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038533.4	NM_006099		15	74	0	0	0	0.010504	0	15	74				
GPR89A	653519	broad.mit.edu	37	1	145826927	145826927	+	Start_Codon_SNP	SNP	C	C	G			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr1:145826927C>G	ENST00000313835.9	-	1	146	c.3G>C	c.(1-3)atG>atC	p.M1I	WI2-925H4.1_ENST00000437377.1_RNA|GPR89A_ENST00000462900.2_5'Flank|GPR89A_ENST00000534502.1_5'UTR|GPR89A_ENST00000454423.3_5'UTR			B7ZAQ6	GPHRA_HUMAN	G protein-coupled receptor 89A	1					intracellular pH reduction (GO:0051452)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein transport (GO:0015031)|regulation of anion transport (GO:0044070)|signal transduction (GO:0007165)	Golgi cisterna membrane (GO:0032580)|Golgi-associated vesicle membrane (GO:0030660)|integral component of membrane (GO:0016021)	signal transducer activity (GO:0004871)|voltage-gated anion channel activity (GO:0008308)			breast(1)|large_intestine(3)|lung(1)|skin(1)	6	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)			TGAGGAAACTCATGGCGAAGT	0.642																																							uc001eot.2		NA																	0					0						c.(1-3)ATG>ATC		G protein-coupled receptor 89A isoform 1							71.0	91.0	85.0					1																	145826927		2203	4300	6503	SO:0001582	initiator_codon_variant	653519				intracellular pH reduction|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein transport	Golgi cisterna membrane|Golgi-associated vesicle membrane|integral to membrane	signal transducer activity|voltage-gated anion channel activity	g.chr1:145826927C>G	AB097024	CCDS72857.1, CCDS72858.1	1q21.1	2008-12-17	2007-06-06	2007-06-06	ENSG00000117262	ENSG00000117262			31984	protein-coding gene	gene with protein product		612821					Standard	NM_001097612		Approved	UNQ192	uc001eot.2	B7ZAQ6	OTTHUMG00000013738	ENST00000313835.9:c.3G>C	1.37:g.145826927C>G	ENSP00000319673:p.Met1Ile					NBPF10_uc001emp.3_Intron|GPR89A_uc010ozb.1_5'Flank|GPR89A_uc001eos.2_5'UTR|GPR89A_uc010ozc.1_5'UTR|GPR89A_uc010ozd.1_5'UTR|GPR89A_uc010oze.1_Missense_Mutation_p.M1I	p.M1I	NM_001097612	NP_001091081	B7ZAQ6	GPHRA_HUMAN	KIRC - Kidney renal clear cell carcinoma(6;0.0764)|Kidney(552;0.118)|Colorectal(543;0.229)		1	177	-	all_hematologic(18;0.00473)|Acute lymphoblastic leukemia(18;0.0786)		1					A6NN37|B2RUV3|B3KMN3|B4DLT3|B4DXE7|Q53FQ9|Q5T2V8|Q5T5P5|Q659E2|Q6NVY5|Q9P0S4|Q9Y302	Missense_Mutation	SNP	ENST00000313835.9	37	c.3G>C	CCDS41377.1	.	.	.	.	.	.	.	.	.	.	.	14.33	2.502434	0.44455	.	.	ENSG00000117262	ENST00000313835	.	.	.	3.7	3.7	0.42460	.	0.000000	0.85682	D	0.000000	T	0.68100	0.2964	.	.	.	0.80722	D	1	D;D	0.54964	0.969;0.969	D;D	0.63381	0.914;0.914	T	0.72286	-0.4338	8	0.62326	D	0.03	-24.4279	10.8654	0.46851	0.0:1.0:0.0:0.0	.	1;1	P0CG08;B7ZAQ6	GPHRB_HUMAN;GPHRA_HUMAN	I	1	.	ENSP00000319673:M1I	M	-	3	0	GPR89A	144538284	1.000000	0.71417	1.000000	0.80357	0.046000	0.14306	3.530000	0.53539	1.897000	0.54924	0.194000	0.17425	ATG		0.642	GPR89A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038507.2	NM_001097612	Missense_Mutation	8	57	0	0	0	0.000978	0	8	57				
HRNR	388697	broad.mit.edu	37	1	152188343	152188343	+	Missense_Mutation	SNP	G	G	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr1:152188343G>A	ENST00000368801.2	-	3	5837	c.5762C>T	c.(5761-5763)tCc>tTc	p.S1921F	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	1921					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ACCATAGCTGGAAGATGAACC	0.577																																							uc001ezt.1		NA																	0				skin(2)|ovary(1)	3						c.(5761-5763)TCC>TTC		hornerin							551.0	806.0	721.0					1																	152188343		2171	4297	6468	SO:0001583	missense	388697				keratinization		calcium ion binding|protein binding	g.chr1:152188343G>A	AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"""EF-hand domain containing"""	20846	protein-coding gene	gene with protein product	"""filaggrin family member 3"""						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.5762C>T	1.37:g.152188343G>A	ENSP00000357791:p.Ser1921Phe						p.S1921F	NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	5838	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1921			21.		Q5DT20|Q5U1F4	Missense_Mutation	SNP	ENST00000368801.2	37	c.5762C>T	CCDS30859.1	.	.	.	.	.	.	.	.	.	.	G	7.819	0.717277	0.15372	.	.	ENSG00000197915	ENST00000368801	T	0.02974	4.09	4.22	3.29	0.37713	.	.	.	.	.	T	0.03827	0.0108	L	0.54323	1.7	0.09310	N	1	D	0.89917	1.0	D	0.65987	0.94	T	0.42816	-0.9429	9	0.34782	T	0.22	.	9.6947	0.40150	0.0:0.0:0.7939:0.2061	.	1921	Q86YZ3	HORN_HUMAN	F	1921	ENSP00000357791:S1921F	ENSP00000357791:S1921F	S	-	2	0	HRNR	150454967	0.020000	0.18652	0.002000	0.10522	0.018000	0.09664	1.472000	0.35376	1.112000	0.41740	0.558000	0.71614	TCC		0.577	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1	XM_373868		78	814	0	0	0	0.00361	0	78	814				
SPRR2G	6706	broad.mit.edu	37	1	153122394	153122394	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr1:153122394G>T	ENST00000368748.4	-	2	231	c.193C>A	c.(193-195)Cag>Aag	p.Q65K		NM_001014291.3	NP_001014313.1	Q9BYE4	SPR2G_HUMAN	small proline-rich protein 2G	65					epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)				endometrium(1)|lung(1)|skin(1)	3	all_lung(78;1.78e-30)|Lung NSC(65;7.29e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			TACTTCTGCTGGCAGGGTGGG	0.527																																							uc009wod.1		NA																	0					0						c.(193-195)CAG>AAG		small proline-rich protein 2G							179.0	140.0	153.0					1																	153122394		2203	4300	6503	SO:0001583	missense	6706				keratinization	cornified envelope|cytoplasm		g.chr1:153122394G>T	AF333957	CCDS30868.1	1q21-q22	2008-02-05			ENSG00000159516	ENSG00000159516			11267	protein-coding gene	gene with protein product						8325635, 11279051	Standard	NM_001014291		Approved		uc009wod.2	Q9BYE4	OTTHUMG00000014399	ENST00000368748.4:c.193C>A	1.37:g.153122394G>T	ENSP00000357737:p.Gln65Lys						p.Q65K	NM_001014291	NP_001014313	Q9BYE4	SPR2G_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		2	314	-	all_lung(78;1.78e-30)|Lung NSC(65;7.29e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		65						Missense_Mutation	SNP	ENST00000368748.4	37	c.193C>A	CCDS30868.1	.	.	.	.	.	.	.	.	.	.	G	9.294	1.051259	0.19827	.	.	ENSG00000159516	ENST00000368748	T	0.33438	1.41	4.18	3.25	0.37280	.	.	.	.	.	T	0.14700	0.0355	.	.	.	0.23260	N	0.998024	P	0.50156	0.932	B	0.42692	0.395	T	0.03524	-1.1028	8	0.87932	D	0	-13.6538	9.7686	0.40576	0.0:0.2103:0.7897:0.0	.	65	Q9BYE4	SPR2G_HUMAN	K	65	ENSP00000357737:Q65K	ENSP00000357737:Q65K	Q	-	1	0	SPRR2G	151389018	0.010000	0.17322	0.162000	0.22713	0.783000	0.44284	1.667000	0.37471	0.932000	0.37266	0.511000	0.50034	CAG		0.527	SPRR2G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040057.1			26	74	1	0	9.90768e-06	0.004656	1.10341e-05	26	74				
CRTC2	200186	broad.mit.edu	37	1	153924717	153924717	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr1:153924717C>A	ENST00000368633.1	-	10	901	c.774G>T	c.(772-774)caG>caT	p.Q258H	CRTC2_ENST00000476883.1_5'Flank|CRTC2_ENST00000368630.3_Intron	NM_181715.2	NP_859066.1	Q53ET0	CRTC2_HUMAN	CREB regulated transcription coactivator 2	258					gluconeogenesis (GO:0006094)|glucose homeostasis (GO:0042593)|histone H3-K9 acetylation (GO:0043970)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein homotetramerization (GO:0051289)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	cAMP response element binding protein binding (GO:0008140)			NS(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	27	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CATTGGCAGGCTGGTCAGGAG	0.577																																							uc010ped.1		NA																	0				ovary(2)	2						c.(772-774)CAG>CAT		CREB regulated transcription coactivator 2							57.0	63.0	61.0					1																	153924717		2203	4300	6503	SO:0001583	missense	200186				interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding	g.chr1:153924717C>A	AY360172	CCDS30875.1	1q21.3	2008-02-05			ENSG00000160741	ENSG00000160741			27301	protein-coding gene	gene with protein product		608972				14506290, 14536081	Standard	NM_181715		Approved	TORC2	uc021pab.1	Q53ET0	OTTHUMG00000037156	ENST00000368633.1:c.774G>T	1.37:g.153924717C>A	ENSP00000357622:p.Gln258His					CRTC2_uc001fde.3_RNA|CRTC2_uc001fdf.3_5'UTR	p.Q258H	NM_181715	NP_859066	Q53ET0	CRTC2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		10	844	-	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		258					Q6UUV8|Q7Z3X7|Q8N332	Missense_Mutation	SNP	ENST00000368633.1	37	c.774G>T	CCDS30875.1	.	.	.	.	.	.	.	.	.	.	C	16.01	3.001316	0.54254	.	.	ENSG00000160741	ENST00000368633	T	0.52754	0.65	4.67	3.76	0.43208	Transducer of regulated CREB activity, middle domain (1);	0.145674	0.46145	D	0.000301	T	0.44871	0.1314	L	0.52364	1.645	0.30235	N	0.795507	D	0.71674	0.998	D	0.78314	0.991	T	0.42258	-0.9462	10	0.72032	D	0.01	-9.3434	7.0036	0.24823	0.0:0.798:0.0:0.202	.	258	Q53ET0	CRTC2_HUMAN	H	258	ENSP00000357622:Q258H	ENSP00000357622:Q258H	Q	-	3	2	CRTC2	152191341	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	0.908000	0.28545	1.186000	0.42985	0.455000	0.32223	CAG		0.577	CRTC2-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090272.3	NM_181715		43	54	1	0	8.00217e-19	0.00361	1.13242e-18	43	54				
HAX1	10456	broad.mit.edu	37	1	154247910	154247910	+	Silent	SNP	G	G	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr1:154247910G>T	ENST00000328703.7	+	6	918	c.705G>T	c.(703-705)cgG>cgT	p.R235R	HAX1_ENST00000483970.2_Silent_p.R243R|HAX1_ENST00000457918.2_Silent_p.R187R|HAX1_ENST00000532105.1_Silent_p.R107R	NM_006118.3	NP_006109.2	O00165	HAX1_HUMAN	HCLS1 associated protein X-1	235	Involved in ATP2A2 binding.|Involved in GNA13 binding.|Involved in HCLS1 binding.|Involved in PKD2 binding.|Required for localization in sarcoplasmic reticulum. {ECO:0000250}.				cellular response to cytokine stimulus (GO:0071345)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of actin filament polymerization (GO:0030833)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrion degradation (GO:1903146)|regulation of protein targeting to mitochondrion (GO:1903214)	actin cytoskeleton (GO:0015629)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|lamellipodium (GO:0030027)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|sarcoplasmic reticulum (GO:0016529)|transcription factor complex (GO:0005667)	interleukin-1 binding (GO:0019966)|protein N-terminus binding (GO:0047485)			cervix(1)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	15	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			GTGAGGGCCGGACAGAGACTA	0.493									Kostmann syndrome																														uc001fes.2		NA																	0					0						c.(703-705)CGG>CGT		HCLS1 associated protein X-1 isoform a							148.0	155.0	153.0					1																	154247910		2203	4300	6503	SO:0001819	synonymous_variant	10456	Kostmann_syndrome	Familial Cancer Database	Kostmann Infantile Agranulocytosis, Severe Congenital Neutropenia, Congenital Agranulocytosis		actin cytoskeleton|cytoplasmic membrane-bounded vesicle|lamellipodium|mitochondrion|nuclear membrane|sarcoplasmic reticulum|soluble fraction	interleukin-1 binding|protein N-terminus binding	g.chr1:154247910G>T	U68566	CCDS1064.1, CCDS44230.1	1q21.3	2014-09-17			ENSG00000143575	ENSG00000143575			16915	protein-coding gene	gene with protein product	"""HCLS1 (and PKD2) associated protein"""	605998				9058808, 10760273	Standard	NM_006118		Approved	HS1BP1, HCLSBP1	uc001fes.3	O00165	OTTHUMG00000035978	ENST00000328703.7:c.705G>T	1.37:g.154247910G>T						HAX1_uc001fet.2_Silent_p.R187R|HAX1_uc010peo.1_Silent_p.R243R|HAX1_uc009wou.2_Silent_p.R160R|HAX1_uc009wov.2_Silent_p.R209R	p.R235R	NM_006118	NP_006109	O00165	HAX1_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)		6	866	+	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		235			Involved in PKD2 binding.|Involved in ATP2A2 binding.|Involved in HCLS1 binding.|Involved in GNA13 binding.|Required for localization in sarcoplasmic reticulum (By similarity).		A8W4W9|A8W4X0|B4DUJ7|Q5VYD5|Q5VYD7|Q96AU4|Q9BS80	Silent	SNP	ENST00000328703.7	37	c.705G>T	CCDS1064.1																																																																																				0.493	HAX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087650.1	NM_006118		43	135	1	0	3.7469e-33	0.00361	5.80741e-33	43	135				
TSACC	128229	broad.mit.edu	37	1	156316642	156316642	+	Missense_Mutation	SNP	C	C	G			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr1:156316642C>G	ENST00000368255.3	+	4	607	c.247C>G	c.(247-249)Cag>Gag	p.Q83E	TSACC_ENST00000368254.1_Missense_Mutation_p.Q83E|TSACC_ENST00000466306.1_Missense_Mutation_p.T79R|TSACC_ENST00000368251.1_Missense_Mutation_p.Q83E|TSACC_ENST00000481479.1_Missense_Mutation_p.T79R|TSACC_ENST00000368253.2_Missense_Mutation_p.Q83E|TSACC_ENST00000368252.1_Missense_Mutation_p.Q83E|TSACC_ENST00000470342.1_Missense_Mutation_p.T79R	NM_144627.3	NP_653228.1	Q96A04	TSACC_HUMAN	TSSK6 activating co-chaperone	83						cytoplasm (GO:0005737)	chaperone binding (GO:0051087)										CGCCCAACAACAGATGGCTGT	0.488																																							uc001foo.2		NA																	0					0						c.(247-249)CAG>GAG		SSTK-interacting protein							158.0	157.0	157.0					1																	156316642		2203	4300	6503	SO:0001583	missense	128229							g.chr1:156316642C>G	AY048672	CCDS1141.1	1q22	2012-08-16	2012-08-16	2012-08-16	ENSG00000163467	ENSG00000163467			30636	protein-coding gene	gene with protein product	"""SSTK-interacting protein"""		"""chromosome 1 open reading frame 182"""	C1orf182		20829357	Standard	NM_144627		Approved	SSTK-IP, SIP	uc001foo.3	Q96A04	OTTHUMG00000024060	ENST00000368255.3:c.247C>G	1.37:g.156316642C>G	ENSP00000357238:p.Gln83Glu					C1orf182_uc009wry.2_Missense_Mutation_p.Q83E|C1orf182_uc001fop.3_Missense_Mutation_p.Q83E	p.Q83E	NM_144627	NP_653228	Q96A04	CA182_HUMAN			4	609	+	Hepatocellular(266;0.158)		83					D3DVB9	Missense_Mutation	SNP	ENST00000368255.3	37	c.247C>G	CCDS1141.1	.	.	.	.	.	.	.	.	.	.	C	17.15	3.317081	0.60524	.	.	ENSG00000163467	ENST00000368255;ENST00000368254;ENST00000368253;ENST00000368252;ENST00000368251	T;T;T;T;T	0.56103	0.48;0.48;0.48;0.48;0.48	5.22	5.22	0.72569	.	0.000000	0.48286	D	0.000200	T	0.31389	0.0795	L	0.32530	0.975	0.29753	N	0.836177	P	0.46395	0.877	B	0.42214	0.38	T	0.31916	-0.9926	10	0.87932	D	0	-2.0861	14.1585	0.65432	0.0:1.0:0.0:0.0	.	83	Q96A04	CA182_HUMAN	E	83	ENSP00000357238:Q83E;ENSP00000357237:Q83E;ENSP00000357236:Q83E;ENSP00000357235:Q83E;ENSP00000357234:Q83E	ENSP00000357234:Q83E	Q	+	1	0	C1orf182	154583266	0.990000	0.36364	0.935000	0.37517	0.899000	0.52679	3.497000	0.53295	2.696000	0.92011	0.655000	0.94253	CAG		0.488	TSACC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060594.1	NM_144627		11	207	0	0	0	0.003163	0	11	207				
C1orf61	10485	broad.mit.edu	37	1	156386590	156386590	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr1:156386590G>T	ENST00000368243.1	-	3	158	c.42C>A	c.(40-42)aaC>aaA	p.N14K		NM_006365.1	NP_006356.1	Q13536	CROC4_HUMAN	chromosome 1 open reading frame 61	14						nucleus (GO:0005634)				large_intestine(2)|lung(2)|skin(1)	5	Hepatocellular(266;0.158)					AAAGGAGGAAGTTCCTCAAGT	0.463																																							uc001fou.1		NA																	0				skin(1)	1						c.(40-42)AAC>AAA		transcriptional activator of the c-fos promoter							134.0	134.0	134.0					1																	156386590		2203	4300	6503	SO:0001583	missense	10485					nucleus		g.chr1:156386590G>T		CCDS1142.1	1q22	2014-03-17			ENSG00000125462	ENSG00000125462			30780	protein-coding gene	gene with protein product	"""contingent replication of cDNA-4"", ""transcriptional activator of the c fos promoter"""					10995546, 23012322	Standard	XM_005244832		Approved	CROC4	uc001fou.1	Q13536	OTTHUMG00000031022	ENST00000368243.1:c.42C>A	1.37:g.156386590G>T	ENSP00000357226:p.Asn14Lys					C1orf61_uc001fov.1_Intron|C1orf61_uc001fow.1_Intron|C1orf61_uc001fox.1_Intron|C1orf61_uc001foy.1_Intron	p.N14K	NM_006365	NP_006356	Q13536	CROC4_HUMAN			3	159	-	Hepatocellular(266;0.158)		14					B1ALL5|B1ALL8	Missense_Mutation	SNP	ENST00000368243.1	37	c.42C>A	CCDS1142.1	.	.	.	.	.	.	.	.	.	.	G	15.60	2.882388	0.51908	.	.	ENSG00000125462	ENST00000368243	.	.	.	2.64	-3.32	0.04973	.	.	.	.	.	T	0.05547	0.0146	N	0.14661	0.345	0.09310	N	1	B	0.13594	0.008	B	0.14023	0.01	T	0.34750	-0.9816	8	0.87932	D	0	.	0.7512	0.00990	0.3712:0.188:0.2845:0.1564	.	14	Q13536	CROC4_HUMAN	K	14	.	ENSP00000357226:N14K	N	-	3	2	C1orf61	154653214	0.004000	0.15560	0.001000	0.08648	0.697000	0.40408	-0.465000	0.06680	-0.867000	0.04063	-0.424000	0.05967	AAC		0.463	C1orf61-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075988.1	NM_006365		61	93	1	0	2.40655e-23	0.00361	3.55522e-23	61	93				
IQGAP3	128239	broad.mit.edu	37	1	156507059	156507059	+	Missense_Mutation	SNP	C	C	G			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr1:156507059C>G	ENST00000361170.2	-	27	3346	c.3336G>C	c.(3334-3336)caG>caC	p.Q1112H	IQGAP3_ENST00000498755.1_5'UTR	NM_178229.4	NP_839943.2	Q86VI3	IQGA3_HUMAN	IQ motif containing GTPase activating protein 3	1112	Ras-GAP. {ECO:0000255|PROSITE- ProRule:PRU00167}.				activation of MAPK activity (GO:0000187)|cellular response to organic substance (GO:0071310)|ERK1 and ERK2 cascade (GO:0070371)|G1/S transition of mitotic cell cycle (GO:0000082)|negative regulation of gene expression (GO:0010629)|positive regulation of gene expression (GO:0010628)|positive regulation of mammary gland epithelial cell proliferation (GO:0033601)|Ras protein signal transduction (GO:0007265)|regulation of cell size (GO:0008361)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)	Ras GTPase activator activity (GO:0005099)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3)	75	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CCAGTCGTCTCTGGACCTCGG	0.552																																							uc001fpf.2		NA																	0				ovary(5)|skin(1)	6						c.(3334-3336)CAG>CAC		IQ motif containing GTPase activating protein 3							132.0	108.0	116.0					1																	156507059		2203	4300	6503	SO:0001583	missense	128239				small GTPase mediated signal transduction	intracellular	calmodulin binding|Ras GTPase activator activity	g.chr1:156507059C>G	AY253300	CCDS1144.1	1q21.3	2008-02-05			ENSG00000183856	ENSG00000183856			20669	protein-coding gene	gene with protein product							Standard	NM_178229		Approved		uc001fpf.3	Q86VI3	OTTHUMG00000033114	ENST00000361170.2:c.3336G>C	1.37:g.156507059C>G	ENSP00000354451:p.Gln1112His						p.Q1112H	NM_178229	NP_839943	Q86VI3	IQGA3_HUMAN			27	3411	-	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		1112			Ras-GAP.		Q5T3H8	Missense_Mutation	SNP	ENST00000361170.2	37	c.3336G>C	CCDS1144.1	.	.	.	.	.	.	.	.	.	.	C	18.36	3.607335	0.66558	.	.	ENSG00000183856	ENST00000361170	T	0.80123	-1.34	4.93	3.07	0.35406	Rho GTPase activation protein (1);Ras GTPase-activating protein (3);	0.069781	0.64402	D	0.000015	D	0.83261	0.5216	M	0.78456	2.415	0.44388	D	0.997294	D	0.71674	0.998	D	0.83275	0.996	T	0.83308	-0.0024	10	0.66056	D	0.02	-22.9229	6.5146	0.22240	0.0:0.6446:0.0:0.3554	.	1112	Q86VI3	IQGA3_HUMAN	H	1112	ENSP00000354451:Q1112H	ENSP00000354451:Q1112H	Q	-	3	2	IQGAP3	154773683	0.807000	0.29009	1.000000	0.80357	0.958000	0.62258	0.451000	0.21779	0.688000	0.31529	0.561000	0.74099	CAG		0.552	IQGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080657.1	NM_178229		9	70	0	0	0	0.004482	0	9	70				
INSRR	3645	broad.mit.edu	37	1	156815791	156815791	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr1:156815791C>A	ENST00000368195.3	-	9	2327	c.1931G>T	c.(1930-1932)cGg>cTg	p.R644L	NTRK1_ENST00000392302.2_Intron	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN	insulin receptor-related receptor	644	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				actin cytoskeleton reorganization (GO:0031532)|cellular response to alkaline pH (GO:0071469)|male sex determination (GO:0030238)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CTCTGCCAGCCGCTGCCACAG	0.677																																							uc010pht.1		NA																	0				lung(11)|ovary(5)|skin(2)|kidney(1)|central_nervous_system(1)	20						c.(1930-1932)CGG>CTG		insulin receptor-related receptor precursor							65.0	56.0	59.0					1																	156815791		2203	4300	6503	SO:0001583	missense	3645				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity	g.chr1:156815791C>A	J05046	CCDS1160.1	1q21-q23	2013-02-11			ENSG00000027644	ENSG00000027644		"""Fibronectin type III domain containing"""	6093	protein-coding gene	gene with protein product		147671				2768234, 2249481	Standard	NM_014215		Approved	IRR	uc010pht.2	P14616	OTTHUMG00000041291	ENST00000368195.3:c.1931G>T	1.37:g.156815791C>A	ENSP00000357178:p.Arg644Leu					NTRK1_uc001fqf.1_Intron|NTRK1_uc009wsi.1_Intron	p.R644L	NM_014215	NP_055030	P14616	INSRR_HUMAN			9	2185	-	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		644			Fibronectin type-III 2.		O60724|Q5VZS3	Missense_Mutation	SNP	ENST00000368195.3	37	c.1931G>T	CCDS1160.1	.	.	.	.	.	.	.	.	.	.	C	14.62	2.591208	0.46214	.	.	ENSG00000027644	ENST00000368195	T	0.73469	-0.75	4.84	4.84	0.62591	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.000000	0.45361	D	0.000362	T	0.45955	0.1368	.	.	.	0.38088	D	0.936861	P	0.51653	0.947	B	0.36989	0.238	T	0.52056	-0.8626	9	0.33141	T	0.24	.	9.2407	0.37495	0.0:0.9033:0.0:0.0967	.	644	P14616	INSRR_HUMAN	L	644	ENSP00000357178:R644L	ENSP00000357178:R644L	R	-	2	0	INSRR	155082415	0.999000	0.42202	0.997000	0.53966	0.998000	0.95712	2.886000	0.48578	2.686000	0.91538	0.561000	0.74099	CGG		0.677	INSRR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098929.1	NM_014215		24	31	1	0	7.41945e-09	0.005443	8.90158e-09	24	31				
ARHGEF11	9826	broad.mit.edu	37	1	156914953	156914953	+	Missense_Mutation	SNP	C	C	A	rs368365495		TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr1:156914953C>A	ENST00000361409.2	-	29	3471	c.2729G>T	c.(2728-2730)cGg>cTg	p.R910L	ARHGEF11_ENST00000315174.8_Missense_Mutation_p.R326L|ARHGEF11_ENST00000487682.1_5'UTR|ARHGEF11_ENST00000368194.3_Missense_Mutation_p.R950L	NM_014784.3	NP_055599.1	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11	910	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|cellular component movement (GO:0006928)|cytokinesis (GO:0000910)|establishment of cell polarity (GO:0030010)|G-protein coupled receptor signaling pathway (GO:0007186)|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 transcription, DNA-templated (GO:0045893)|regulation of cell growth (GO:0001558)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)|striated muscle contraction (GO:0006941)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|membrane (GO:0016020)	G-protein coupled receptor binding (GO:0001664)|GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GCACTGGTCCCGGGCCCGGCA	0.562																																							uc001fqo.2		NA																	0				ovary(3)|skin(2)|pleura(1)|lung(1)|kidney(1)|pancreas(1)	9						c.(2728-2730)CGG>CTG		Rho guanine nucleotide exchange factor (GEF) 11							70.0	76.0	74.0					1																	156914953		2203	4300	6503	SO:0001583	missense	9826				actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction	cytosol|Golgi apparatus|plasma membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr1:156914953C>A	AB002378	CCDS1162.1, CCDS1163.1	1q21	2011-11-16			ENSG00000132694	ENSG00000132694		"""Rho guanine nucleotide exchange factors"""	14580	protein-coding gene	gene with protein product		605708				10526156, 9205841	Standard	NM_014784		Approved	KIAA0380, GTRAP48, PDZ-RHOGEF	uc001fqn.3	O15085	OTTHUMG00000041292	ENST00000361409.2:c.2729G>T	1.37:g.156914953C>A	ENSP00000354644:p.Arg910Leu					ARHGEF11_uc010phu.1_Missense_Mutation_p.R326L|ARHGEF11_uc001fqn.2_Missense_Mutation_p.R950L	p.R910L	NM_014784	NP_055599	O15085	ARHGB_HUMAN			29	3769	-	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		910			DH.		D3DVD0|Q5VY40|Q6PFW2	Missense_Mutation	SNP	ENST00000361409.2	37	c.2729G>T	CCDS1162.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.453741	0.84209	.	.	ENSG00000132694	ENST00000368194;ENST00000361409;ENST00000315174	T;T;T	0.61510	0.1;0.1;0.1	5.07	5.07	0.68467	Dbl homology (DH) domain (5);	0.000000	0.49305	D	0.000147	T	0.31670	0.0804	N	0.00885	-1.115	0.46678	D	0.999155	B;D;D	0.56521	0.057;0.976;0.975	B;P;P	0.58780	0.081;0.804;0.845	T	0.55140	-0.8187	10	0.25751	T	0.34	-20.8769	18.2305	0.89934	0.0:1.0:0.0:0.0	.	326;910;950	F8W8P9;O15085;O15085-2	.;ARHGB_HUMAN;.	L	950;910;326	ENSP00000357177:R950L;ENSP00000354644:R910L;ENSP00000313470:R326L	ENSP00000313470:R326L	R	-	2	0	ARHGEF11	155181577	0.807000	0.29009	0.997000	0.53966	0.989000	0.77384	1.537000	0.36083	2.644000	0.89710	0.655000	0.94253	CGG		0.562	ARHGEF11-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000098931.1	NM_198236		43	77	1	0	2.17126e-26	0.00361	3.27474e-26	43	77				
KIRREL	55243	broad.mit.edu	37	1	158045998	158045998	+	Missense_Mutation	SNP	A	A	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr1:158045998A>T	ENST00000359209.6	+	2	215	c.148A>T	c.(148-150)Att>Ttt	p.I50F	KIRREL_ENST00000392272.2_Missense_Mutation_p.I50F|KIRREL_ENST00000416935.2_Intron|KIRREL_ENST00000368173.3_Missense_Mutation_p.I50F|KIRREL_ENST00000360089.4_5'UTR			Q96J84	KIRR1_HUMAN	kin of IRRE like (Drosophila)	50	Ig-like C2-type 1.				excretion (GO:0007588)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of actin filament polymerization (GO:0030838)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|dendritic shaft (GO:0043198)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	myosin binding (GO:0017022)			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(5)|skin(3)|stomach(1)	38	all_hematologic(112;0.0378)					CTACTCTGGAATTGTGCAATG	0.637																																							uc001frn.3		NA																	0				ovary(1)	1						c.(148-150)ATT>TTT		kin of IRRE like precursor							93.0	95.0	94.0					1																	158045998		2203	4300	6503	SO:0001583	missense	55243					integral to membrane		g.chr1:158045998A>T	AK001707	CCDS1172.2, CCDS72952.1	1q21-q25	2013-01-29			ENSG00000183853	ENSG00000183853		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15734	protein-coding gene	gene with protein product	"""nephrin-like protein 1"""	607428				12424224	Standard	NM_001286349		Approved	NEPH1	uc001frn.4	Q96J84	OTTHUMG00000022438	ENST00000359209.6:c.148A>T	1.37:g.158045998A>T	ENSP00000352138:p.Ile50Phe					KIRREL_uc010pib.1_Intron|KIRREL_uc009wsq.2_5'UTR	p.I50F	NM_018240	NP_060710	Q96J84	KIRR1_HUMAN			2	552	+	all_hematologic(112;0.0378)		50			Extracellular (Potential).|Ig-like C2-type 1.		Q5W0F8|Q5XKC6|Q7Z696|Q7Z7N8|Q8TB15|Q9H9N1|Q9NVA5	Missense_Mutation	SNP	ENST00000359209.6	37	c.148A>T	CCDS1172.2	.	.	.	.	.	.	.	.	.	.	A	13.79	2.341149	0.41498	.	.	ENSG00000183853	ENST00000368173;ENST00000392272;ENST00000359209	T;T;T	0.67171	-0.25;-0.25;-0.25	4.37	4.37	0.52481	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.36066	N	0.002816	T	0.41259	0.1151	L	0.31294	0.92	0.80722	D	1	B	0.24675	0.109	B	0.33392	0.163	T	0.38672	-0.9650	10	0.26408	T	0.33	-31.7108	12.1757	0.54184	1.0:0.0:0.0:0.0	.	50	Q96J84	KIRR1_HUMAN	F	50	ENSP00000357155:I50F;ENSP00000376098:I50F;ENSP00000352138:I50F	ENSP00000352138:I50F	I	+	1	0	KIRREL	156312622	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.195000	0.94971	1.912000	0.55364	0.533000	0.62120	ATT		0.637	KIRREL-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058342.3	NM_018240		34	93	0	0	0	0.006999	0	34	93				
MNDA	4332	broad.mit.edu	37	1	158817648	158817648	+	Missense_Mutation	SNP	A	A	C			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr1:158817648A>C	ENST00000368141.4	+	6	1379	c.1118A>C	c.(1117-1119)cAa>cCa	p.Q373P		NM_002432.1	NP_002423.1	P41218	MNDA_HUMAN	myeloid cell nuclear differentiation antigen	373	HIN-200. {ECO:0000255|PROSITE- ProRule:PRU00106}.				B cell receptor signaling pathway (GO:0050853)|cellular defense response (GO:0006968)|cellular response to DNA damage stimulus (GO:0006974)|negative regulation of B cell proliferation (GO:0030889)|positive regulation of apoptotic process (GO:0043065)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(2)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(26)|ovary(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	all_hematologic(112;0.0378)					TTCTGCCTTCAACTGAGAACA	0.443																																							uc001fsz.1		NA																	0				ovary(2)|skin(2)	4						c.(1117-1119)CAA>CCA		myeloid cell nuclear differentiation antigen							135.0	130.0	132.0					1																	158817648		2203	4300	6503	SO:0001583	missense	4332				B cell receptor signaling pathway|cellular defense response|negative regulation of B cell proliferation|positive regulation of apoptosis|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding	g.chr1:158817648A>C	BC032319	CCDS1177.1	1q22	2008-02-05			ENSG00000163563	ENSG00000163563			7183	protein-coding gene	gene with protein product		159553				1644857, 7512843	Standard	NM_002432		Approved	PYHIN3	uc001fsz.1	P41218	OTTHUMG00000022776	ENST00000368141.4:c.1118A>C	1.37:g.158817648A>C	ENSP00000357123:p.Gln373Pro						p.Q373P	NM_002432	NP_002423	P41218	MNDA_HUMAN			6	1318	+	all_hematologic(112;0.0378)		373			HIN-200.			Missense_Mutation	SNP	ENST00000368141.4	37	c.1118A>C	CCDS1177.1	.	.	.	.	.	.	.	.	.	.	A	16.57	3.159170	0.57368	.	.	ENSG00000163563	ENST00000368141	T	0.14516	2.5	3.76	3.76	0.43208	HIN-200/IF120x (2);Nucleic acid-binding, OB-fold (1);	0.516121	0.14569	N	0.311596	T	0.17109	0.0411	L	0.57536	1.79	0.09310	N	1	D	0.76494	0.999	D	0.68483	0.958	T	0.03717	-1.1010	10	0.54805	T	0.06	-1.9672	9.0353	0.36284	1.0:0.0:0.0:0.0	.	373	P41218	MNDA_HUMAN	P	373	ENSP00000357123:Q373P	ENSP00000357123:Q373P	Q	+	2	0	MNDA	157084272	0.061000	0.20836	0.024000	0.17045	0.288000	0.27193	3.546000	0.53656	1.677000	0.50941	0.460000	0.39030	CAA		0.443	MNDA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059069.1	NM_002432		6	143	0	0	0	0.001984	0	6	143				
NCSTN	23385	broad.mit.edu	37	1	160324062	160324062	+	Missense_Mutation	SNP	C	C	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr1:160324062C>T	ENST00000294785.5	+	11	1459	c.1334C>T	c.(1333-1335)tCt>tTt	p.S445F	NCSTN_ENST00000392212.4_Missense_Mutation_p.S425F|NCSTN_ENST00000535857.1_Missense_Mutation_p.S307F|NCSTN_ENST00000368063.1_Missense_Mutation_p.S425F|NCSTN_ENST00000459963.1_3'UTR|NCSTN_ENST00000368065.4_Missense_Mutation_p.S187F	NM_015331.2	NP_056146.1	Q92542	NICA_HUMAN	nicastrin	445					amyloid precursor protein catabolic process (GO:0042987)|apoptotic signaling pathway (GO:0097190)|beta-amyloid metabolic process (GO:0050435)|epithelial cell proliferation (GO:0050673)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|membrane protein ectodomain proteolysis (GO:0006509)|membrane protein intracellular domain proteolysis (GO:0031293)|myeloid cell homeostasis (GO:0002262)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of apoptotic process (GO:0043065)|positive regulation of catalytic activity (GO:0043085)|protein processing (GO:0016485)|proteolysis (GO:0006508)|T cell proliferation (GO:0042098)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)	endopeptidase activity (GO:0004175)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(2)	34	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GCTGACCACTCTGGTGCCTTC	0.532																																							uc001fvx.2		NA																	0				ovary(1)|lung(1)	2						c.(1333-1335)TCT>TTT		nicastrin precursor							162.0	134.0	143.0					1																	160324062		2203	4300	6503	SO:0001583	missense	23385				amyloid precursor protein catabolic process|apoptosis|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity|protein processing	endoplasmic reticulum|Golgi apparatus|integral to plasma membrane|melanosome	protein binding	g.chr1:160324062C>T	AF240468	CCDS1203.1	1q22-q23	2014-09-17			ENSG00000162736	ENSG00000162736			17091	protein-coding gene	gene with protein product		605254				9039502, 10993067	Standard	XM_005245053		Approved	KIAA0253, APH2	uc001fvx.3	Q92542	OTTHUMG00000033110	ENST00000294785.5:c.1334C>T	1.37:g.160324062C>T	ENSP00000294785:p.Ser445Phe					NCSTN_uc001fvy.2_Missense_Mutation_p.S425F|NCSTN_uc010pjf.1_Missense_Mutation_p.S307F|NCSTN_uc001fvz.2_Missense_Mutation_p.S225F|NCSTN_uc010pjg.1_Missense_Mutation_p.S187F	p.S445F	NM_015331	NP_056146	Q92542	NICA_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		11	1458	+	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		445			Extracellular (Potential).		Q5T207|Q5T208|Q86VV5	Missense_Mutation	SNP	ENST00000294785.5	37	c.1334C>T	CCDS1203.1	.	.	.	.	.	.	.	.	.	.	C	12.06	1.824944	0.32237	.	.	ENSG00000162736	ENST00000294785;ENST00000368063;ENST00000535857;ENST00000368067;ENST00000392212;ENST00000368065;ENST00000424754	T;T;T;T;T;T	0.72394	-0.65;-0.65;-0.65;-0.65;-0.65;-0.65	5.3	-1.83	0.07833	.	0.738387	0.13071	N	0.416076	T	0.40979	0.1139	L	0.46157	1.445	0.09310	N	1	D;B;B	0.53312	0.959;0.327;0.378	P;B;B	0.46339	0.513;0.094;0.153	T	0.32268	-0.9913	10	0.44086	T	0.13	0.7067	1.5507	0.02574	0.4236:0.2074:0.2188:0.1503	.	307;425;445	F6Y097;Q92542-2;Q92542	.;.;NICA_HUMAN	F	445;425;307;152;425;187;189	ENSP00000294785:S445F;ENSP00000357042:S425F;ENSP00000442605:S307F;ENSP00000376047:S425F;ENSP00000357044:S187F;ENSP00000410124:S189F	ENSP00000294785:S445F	S	+	2	0	NCSTN	158590686	0.000000	0.05858	0.000000	0.03702	0.267000	0.26476	-0.034000	0.12225	-0.278000	0.09180	-0.136000	0.14681	TCT		0.532	NCSTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080622.1	NM_015331		18	114	0	0	0	0.002299	0	18	114				
ADAMTS4	9507	broad.mit.edu	37	1	161168182	161168182	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr1:161168182G>T	ENST00000367996.5	-	1	664	c.236C>A	c.(235-237)gCc>gAc	p.A79D	ADAMTS4_ENST00000367995.3_Missense_Mutation_p.A79D|NDUFS2_ENST00000367993.3_5'Flank|ADAMTS4_ENST00000478394.1_5'Flank	NM_005099.4	NP_005090.3	O75173	ATS4_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 4	79					defense response to bacterium (GO:0042742)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)|protease binding (GO:0002020)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(20)|ovary(4)|prostate(3)|skin(1)|urinary_tract(1)	43	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)		Tinzaparin(DB06822)	CAACAGCCTGGCAGGGGCGCC	0.677																																							uc001fyt.3		NA																	0				ovary(4)|central_nervous_system(1)	5						c.(235-237)GCC>GAC		ADAM metallopeptidase with thrombospondin type 1							12.0	13.0	13.0					1																	161168182		2187	4275	6462	SO:0001583	missense	9507				proteolysis|skeletal system development	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|protease binding|zinc ion binding	g.chr1:161168182G>T	AB014588	CCDS1223.1	1q31-q32	2008-02-05	2005-08-19		ENSG00000158859	ENSG00000158859		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	220	protein-coding gene	gene with protein product		603876	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 4"""			10094461	Standard	NM_005099		Approved	KIAA0688, ADAMTS-2, ADMP-1	uc001fyt.4	O75173	OTTHUMG00000034349	ENST00000367996.5:c.236C>A	1.37:g.161168182G>T	ENSP00000356975:p.Ala79Asp					ADAMTS4_uc001fyu.2_Missense_Mutation_p.A79D|NDUFS2_uc001fyv.2_5'Flank	p.A79D	NM_005099	NP_005090	O75173	ATS4_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00275)		1	664	-	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		79					Q5VTW2|Q6P4Q8|Q6UWA8|Q9UN83	Missense_Mutation	SNP	ENST00000367996.5	37	c.236C>A	CCDS1223.1	.	.	.	.	.	.	.	.	.	.	G	9.461	1.093162	0.20471	.	.	ENSG00000158859	ENST00000367996;ENST00000367995	T;T	0.05649	3.41;3.41	4.86	3.86	0.44501	Peptidase M12B, propeptide (1);	0.129933	0.35179	N	0.003389	T	0.01156	0.0038	N	0.01576	-0.805	0.80722	D	1	P;B	0.42078	0.77;0.43	B;B	0.43413	0.419;0.259	T	0.57871	-0.7736	10	0.10902	T	0.67	.	13.0276	0.58825	0.0:0.269:0.731:0.0	.	79;79	Q5VTW1;O75173	.;ATS4_HUMAN	D	79	ENSP00000356975:A79D;ENSP00000356974:A79D	ENSP00000356974:A79D	A	-	2	0	ADAMTS4	159434806	0.943000	0.32029	0.978000	0.43139	0.792000	0.44763	1.234000	0.32660	2.630000	0.89119	0.491000	0.48974	GCC		0.677	ADAMTS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083066.2	NM_005099		10	8	1	0	6.40141e-05	0.000978	6.99029e-05	10	8				
UHMK1	127933	broad.mit.edu	37	1	162470701	162470701	+	Splice_Site	SNP	A	A	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr1:162470701A>T	ENST00000489294.1	+	3	719		c.e3-1		UHMK1_ENST00000282169.8_3'UTR|UHMK1_ENST00000538489.1_Splice_Site|UHMK1_ENST00000545294.1_Splice_Site	NM_175866.4	NP_787062.1	Q8TAS1	UHMK1_HUMAN	U2AF homology motif (UHM) kinase 1						cell cycle arrest (GO:0007050)|neuron projection development (GO:0031175)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of translational initiation (GO:0045948)|protein autophosphorylation (GO:0046777)|regulation of protein export from nucleus (GO:0046825)	axon (GO:0030424)|dendrite cytoplasm (GO:0032839)|neuronal ribonucleoprotein granule (GO:0071598)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|ribonucleoprotein complex binding (GO:0043021)|RNA binding (GO:0003723)|transferase activity (GO:0016740)			endometrium(1)|large_intestine(2)|lung(6)|prostate(2)	11	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.126)			CATCTTTTTTAGGATGTAAAG	0.423																																							uc001gcc.1		NA																	0					0						c.e3-2		kinase interacting stathmin							67.0	66.0	66.0					1																	162470701		2203	4300	6503	SO:0001630	splice_region_variant	127933				cell cycle arrest|neuron projection development|peptidyl-serine phosphorylation|positive regulation of translational initiation|protein autophosphorylation|regulation of protein export from nucleus	axon|dendrite cytoplasm|neuronal RNA granule|nucleus	protein binding|protein serine/threonine kinase activity|ribonucleoprotein binding|RNA binding	g.chr1:162470701A>T	BC026046	CCDS1239.1, CCDS53423.1, CCDS53424.1	1q23.1	2013-02-12			ENSG00000152332	ENSG00000152332		"""RNA binding motif (RRM) containing"""	19683	protein-coding gene	gene with protein product		608849				12093740, 12782393	Standard	NM_175866		Approved	KIS, Kist	uc001gcc.2	Q8TAS1	OTTHUMG00000031373	ENST00000489294.1:c.562-1A>T	1.37:g.162470701A>T						UHMK1_uc001gcb.1_Splice_Site_p.D114_splice|UHMK1_uc009wuu.1_Splice_Site_p.D188_splice	p.D188_splice	NM_175866	NP_787062	Q8TAS1	UHMK1_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.126)		3	698	+	all_hematologic(112;0.115)							A8K8K4|G3V1M1|Q96C22	Splice_Site	SNP	ENST00000489294.1	37	c.562_splice	CCDS1239.1	.	.	.	.	.	.	.	.	.	.	A	19.36	3.812647	0.70912	.	.	ENSG00000152332	ENST00000545294;ENST00000538489;ENST00000489294	.	.	.	5.12	5.12	0.69794	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.6868	0.56952	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	UHMK1	160737325	1.000000	0.71417	0.999000	0.59377	0.896000	0.52359	8.201000	0.89735	2.275000	0.75901	0.528000	0.53228	.		0.423	UHMK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076788.1	NM_175866	Intron	23	28	0	0	0	0.003954	0	23	28				
DDR2	4921	broad.mit.edu	37	1	162740159	162740159	+	Missense_Mutation	SNP	T	T	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr1:162740159T>A	ENST00000367922.3	+	13	1799	c.1361T>A	c.(1360-1362)tTc>tAc	p.F454Y	DDR2_ENST00000367921.3_Missense_Mutation_p.F454Y	NM_001014796.1	NP_001014796.1	Q16832	DDR2_HUMAN	discoidin domain receptor tyrosine kinase 2	454					biomineral tissue development (GO:0031214)|cell adhesion (GO:0007155)|chondrocyte proliferation (GO:0035988)|collagen fibril organization (GO:0030199)|collagen-activated tyrosine kinase receptor signaling pathway (GO:0038063)|endochondral bone growth (GO:0003416)|extracellular matrix organization (GO:0030198)|ossification (GO:0001503)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of extracellular matrix disassembly (GO:0090091)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein autophosphorylation (GO:0046777)|regulation of bone mineralization (GO:0030500)|regulation of extracellular matrix disassembly (GO:0010715)|signal transduction (GO:0007165)	apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|collagen binding (GO:0005518)|protein tyrosine kinase collagen receptor activity (GO:0038062)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			central_nervous_system(2)|kidney(1)|lung(2)|ovary(1)|skin(1)	7	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.113)		Regorafenib(DB08896)	TCTAGCATGTTCAACAATAAC	0.512																																					NSCLC(161;314 2006 8283 19651 23192)	NSCLC(161;314 2006 8283 19651 23192)	uc001gcf.2		NA																	0				lung(2)|central_nervous_system(2)|ovary(1)|kidney(1)	6						c.(1360-1362)TTC>TAC		discoidin domain receptor family, member 2							240.0	211.0	221.0					1																	162740159		2203	4300	6503	SO:0001583	missense	4921				cell adhesion	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr1:162740159T>A	AK095975	CCDS1241.1	1q12-q23	2009-07-10	2008-01-23		ENSG00000162733	ENSG00000162733	2.7.10.1		2731	protein-coding gene	gene with protein product		191311	"""discoidin domain receptor family, member 2"""	TYRO10, NTRKR3		9659899	Standard	XM_005245221		Approved	TKT	uc001gcg.3	Q16832	OTTHUMG00000034423	ENST00000367922.3:c.1361T>A	1.37:g.162740159T>A	ENSP00000356899:p.Phe454Tyr					DDR2_uc001gcg.2_Missense_Mutation_p.F454Y	p.F454Y	NM_001014796	NP_001014796	Q16832	DDR2_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.113)		13	1826	+	all_hematologic(112;0.115)		454			Cytoplasmic (Potential).		Q7Z730	Missense_Mutation	SNP	ENST00000367922.3	37	c.1361T>A	CCDS1241.1	.	.	.	.	.	.	.	.	.	.	T	13.78	2.338404	0.41398	.	.	ENSG00000162733	ENST00000367922;ENST00000367921;ENST00000458105	T;T;T	0.72835	-0.69;-0.69;-0.69	5.79	4.6	0.57074	.	0.160763	0.56097	D	0.000021	T	0.27663	0.0680	N	0.04355	-0.22	0.33200	D	0.552059	B	0.02656	0.0	B	0.04013	0.001	T	0.09037	-1.0693	9	0.28530	T	0.3	.	9.2323	0.37444	0.2707:0.0:0.0:0.7293	.	454	Q16832	DDR2_HUMAN	Y	454;454;64	ENSP00000356899:F454Y;ENSP00000356898:F454Y;ENSP00000417030:F64Y	ENSP00000356898:F454Y	F	+	2	0	DDR2	161006783	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	3.009000	0.49552	2.207000	0.71202	0.533000	0.62120	TTC		0.512	DDR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083213.2	NM_006182		87	111	0	0	0	0.00361	0	87	111				
C1orf110	339512	broad.mit.edu	37	1	162825131	162825131	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr1:162825131C>A	ENST00000367910.1	-	4	453	c.333G>T	c.(331-333)atG>atT	p.M111I	C1orf110_ENST00000524691.1_Intron|C1orf110_ENST00000367911.2_Missense_Mutation_p.M106I|C1orf110_ENST00000367912.2_Missense_Mutation_p.M110I	NM_178550.4	NP_848645.3	Q86UF4	CA110_HUMAN	chromosome 1 open reading frame 110	111										endometrium(2)|kidney(1)|lung(6)|prostate(1)|skin(2)	12						TGTCTTGGGCCATACGGGTTG	0.443																																							uc001gck.2		NA																	0					0						c.(331-333)ATG>ATT		hypothetical protein LOC339512							158.0	148.0	151.0					1																	162825131		1883	4110	5993	SO:0001583	missense	339512							g.chr1:162825131C>A	BC040018	CCDS44269.1	1q23.3	2012-06-26			ENSG00000185860	ENSG00000185860			28736	protein-coding gene	gene with protein product						12477932	Standard	NM_178550		Approved	MGC48998	uc001gck.2	Q86UF4	OTTHUMG00000034421	ENST00000367910.1:c.333G>T	1.37:g.162825131C>A	ENSP00000356886:p.Met111Ile					C1orf110_uc009wuw.1_Intron|C1orf110_uc009wux.1_Missense_Mutation_p.M110I	p.M111I	NM_178550	NP_848645	Q86UF4	CA110_HUMAN			4	508	-			111					Q5JSG1|Q6ZW57	Missense_Mutation	SNP	ENST00000367910.1	37	c.333G>T	CCDS44269.1	.	.	.	.	.	.	.	.	.	.	C	3.057	-0.194007	0.06259	.	.	ENSG00000185860	ENST00000367912;ENST00000367911;ENST00000367910	.	.	.	4.21	1.0	0.19881	.	2.085490	0.01915	N	0.040108	T	0.03520	0.0101	N	0.03608	-0.345	0.21445	N	0.999683	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.001	T	0.21415	-1.0246	8	0.18276	T	0.48	1.2621	2.9608	0.05891	0.2219:0.5241:0.0:0.254	.	110;111	Q86UF4-2;Q86UF4	.;CA110_HUMAN	I	110;106;111	.	ENSP00000356886:M111I	M	-	3	0	C1orf110	161091755	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.354000	0.07681	0.077000	0.16863	0.650000	0.86243	ATG		0.443	C1orf110-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083211.2	NM_178550		73	121	1	0	1.55023e-36	0.00361	2.43642e-36	73	121				
TADA1	117143	broad.mit.edu	37	1	166839042	166839042	+	Missense_Mutation	SNP	C	C	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr1:166839042C>T	ENST00000367874.4	-	2	217	c.124G>A	c.(124-126)Gag>Aag	p.E42K		NM_053053.3	NP_444281.1	Q96BN2	TADA1_HUMAN	transcriptional adaptor 1	42					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|STAGA complex (GO:0030914)	transcription coactivator activity (GO:0003713)			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)	11						AGGTCAAACTCCTCTTTGCTG	0.383																																							uc001gdw.2		NA																	0				ovary(1)	1						c.(124-126)GAG>AAG		transcriptional adaptor 1-like							133.0	136.0	135.0					1																	166839042		2203	4300	6503	SO:0001583	missense	117143				histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity	g.chr1:166839042C>T	BC015401	CCDS1255.1	1q24.1	2009-10-02	2009-10-02	2009-10-02	ENSG00000152382	ENSG00000152382			30631	protein-coding gene	gene with protein product		612763	"""transcriptional adaptor 1 (HFI1 homolog, yeast)-like"", ""transcriptional adaptor 1 (HFI1 homolog, yeast)"""	TADA1L		11564863	Standard	NM_053053		Approved	STAF42, ADA1, hADA1, HFI1	uc001gdw.3	Q96BN2	OTTHUMG00000034321	ENST00000367874.4:c.124G>A	1.37:g.166839042C>T	ENSP00000356848:p.Glu42Lys					TADA1_uc009wve.2_Missense_Mutation_p.E42K	p.E42K	NM_053053	NP_444281	Q96BN2	TADA1_HUMAN			2	308	-			42					A8K4J9	Missense_Mutation	SNP	ENST00000367874.4	37	c.124G>A	CCDS1255.1	.	.	.	.	.	.	.	.	.	.	C	34	5.314744	0.95655	.	.	ENSG00000152382	ENST00000367874	T	0.62364	0.03	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	T	0.72684	0.3491	M	0.64404	1.975	0.49798	D	0.999822	D;D	0.76494	0.999;0.999	D;D	0.72338	0.977;0.977	T	0.74746	-0.3561	9	0.72032	D	0.01	-0.6753	17.1185	0.86695	0.0:1.0:0.0:0.0	.	42;42	A8K4J9;Q96BN2	.;TADA1_HUMAN	K	42	ENSP00000356848:E42K	ENSP00000356848:E42K	E	-	1	0	TADA1	165105666	1.000000	0.71417	0.999000	0.59377	0.977000	0.68977	7.013000	0.76373	2.707000	0.92482	0.655000	0.94253	GAG		0.383	TADA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082881.1	NM_053053		34	135	0	0	0	0.002522	0	34	135				
ADCY10	55811	broad.mit.edu	37	1	167865910	167865910	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr1:167865910G>T	ENST00000367851.4	-	7	846	c.662C>A	c.(661-663)cCc>cAc	p.P221H	ADCY10_ENST00000367848.1_Missense_Mutation_p.P129H|ADCY10_ENST00000545172.1_Missense_Mutation_p.P68H	NM_018417.4	NP_060887.2	Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	221					cAMP biosynthetic process (GO:0006171)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|spermatogenesis (GO:0007283)	apical part of cell (GO:0045177)|axon (GO:0030424)|basal part of cell (GO:0045178)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|growth cone (GO:0030426)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						AAAATTGGGGGGTGGTTTTAA	0.328																																							uc001ger.2		NA																	0				central_nervous_system(2)|ovary(1)	3						c.(661-663)CCC>CAC		adenylate cyclase 10							105.0	120.0	115.0					1																	167865910		2203	4300	6503	SO:0001583	missense	55811				intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding	g.chr1:167865910G>T	AF271058	CCDS1265.1, CCDS53426.1, CCDS72977.1	1q24	2013-02-04			ENSG00000143199	ENSG00000143199	4.6.1.1	"""Adenylate cyclases"""	21285	protein-coding gene	gene with protein product	"""soluble adenylyl cyclase"", ""Hypercalciuria, absorptive, 2"""	605205					Standard	XM_006711449		Approved	SAC, Sacy, SACI, HCA2, RP1-313L4.2	uc001ger.3	Q96PN6	OTTHUMG00000034573	ENST00000367851.4:c.662C>A	1.37:g.167865910G>T	ENSP00000356825:p.Pro221His					ADCY10_uc009wvk.2_Missense_Mutation_p.P129H|ADCY10_uc010plj.1_Missense_Mutation_p.P68H|ADCY10_uc009wvl.2_Missense_Mutation_p.P220H|ADCY10_uc009wvm.2_RNA	p.P221H	NM_018417	NP_060887	Q96PN6	ADCYA_HUMAN			7	960	-			221					B4DZF0|F5GWS5|O95558|Q5R329|Q5R330|Q8WXV4|Q9NNX0	Missense_Mutation	SNP	ENST00000367851.4	37	c.662C>A	CCDS1265.1	.	.	.	.	.	.	.	.	.	.	G	13.36	2.213923	0.39102	.	.	ENSG00000143199	ENST00000545172;ENST00000367851;ENST00000367848	T;T;T	0.32272	1.53;1.46;1.48	5.32	5.32	0.75619	.	0.108239	0.41500	D	0.000879	T	0.30198	0.0757	N	0.22421	0.69	0.33839	D	0.631259	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.72338	0.977;0.935;0.961	T	0.07404	-1.0774	9	0.41790	T	0.15	-19.328	14.855	0.70329	0.0:0.0:1.0:0.0	.	68;129;221	F5GWS5;Q96PN6-2;Q96PN6	.;.;ADCYA_HUMAN	H	68;221;129	ENSP00000441992:P68H;ENSP00000356825:P221H;ENSP00000356822:P129H	ENSP00000356822:P129H	P	-	2	0	ADCY10	166132534	0.977000	0.34250	0.950000	0.38849	0.253000	0.25986	3.085000	0.50151	2.639000	0.89480	0.650000	0.86243	CCC		0.328	ADCY10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083663.1	NM_018417		103	95	1	0	2.66069e-56	0.00361	4.34407e-56	103	95				
ASTN1	460	broad.mit.edu	37	1	176905466	176905466	+	Silent	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr1:176905466C>A	ENST00000367654.3	-	15	2653	c.2442G>T	c.(2440-2442)ctG>ctT	p.L814L	ASTN1_ENST00000367657.3_Silent_p.L806L|ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000424564.2_Silent_p.L806L|ASTN1_ENST00000361833.2_Silent_p.L806L	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1	814					locomotory behavior (GO:0007626)|neuron cell-cell adhesion (GO:0007158)|neuron migration (GO:0001764)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						TCCAGTGCTGCAGCACAGGGT	0.498																																							uc001glc.2		NA																	0				ovary(6)|skin(5)|central_nervous_system(2)|large_intestine(1)|lung(1)	15						c.(2416-2418)CTG>CTT		astrotactin isoform 1							140.0	115.0	124.0					1																	176905466		2203	4300	6503	SO:0001819	synonymous_variant	460				cell migration|neuron cell-cell adhesion	integral to membrane		g.chr1:176905466C>A	AB006627	CCDS1319.1, CCDS44280.1, CCDS65732.1	1q25.2	2008-02-05	2006-08-24	2006-08-24	ENSG00000152092	ENSG00000152092			773	protein-coding gene	gene with protein product		600904	"""astrotactin"""	ASTN		9070947	Standard	NM_001286164		Approved		uc001glc.3	O14525	OTTHUMG00000035041	ENST00000367654.3:c.2442G>T	1.37:g.176905466C>A						ASTN1_uc001glb.1_Silent_p.L806L|ASTN1_uc001gld.1_Silent_p.L806L|ASTN1_uc009wwx.1_Silent_p.L806L	p.L806L	NM_004319	NP_004310	O14525	ASTN1_HUMAN			15	2630	-			814					A5PL12|B4DHI9|E9PFR8|O60799|Q5W0V7|Q5W0V8	Silent	SNP	ENST00000367654.3	37	c.2418G>T																																																																																					0.498	ASTN1-201	KNOWN	basic	protein_coding	protein_coding		NM_004319		32	61	1	0	7.61001e-30	0.005524	1.16341e-29	32	61				
RASAL2	9462	broad.mit.edu	37	1	178414696	178414696	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr1:178414696G>T	ENST00000462775.1	+	7	1207	c.1082G>T	c.(1081-1083)gGa>gTa	p.G361V	RASAL2_ENST00000367649.3_Missense_Mutation_p.G509V|RASAL2_ENST00000448150.3_Missense_Mutation_p.G491V	NM_004841.3	NP_004832.1	Q9UJF2	NGAP_HUMAN	RAS protein activator like 2	361	Ras-GAP. {ECO:0000255|PROSITE- ProRule:PRU00167}.				negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	Ras GTPase activator activity (GO:0005099)			biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						GATCGTTGTGGAGAGCATGAT	0.413																																							uc001glr.2		NA																	0				ovary(2)|breast(2)|large_intestine(1)	5						c.(1081-1083)GGA>GTA		RAS protein activator like 2 isoform 1							169.0	142.0	151.0					1																	178414696		2203	4300	6503	SO:0001583	missense	9462				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity	g.chr1:178414696G>T	AF047711	CCDS1321.1, CCDS1322.1, CCDS1321.2	1q25	2013-01-10			ENSG00000075391	ENSG00000075391		"""Pleckstrin homology (PH) domain containing"""	9874	protein-coding gene	gene with protein product	"""Ras GTPase activating protein-like"", ""Ras protein activator like 1"""	606136				9877179	Standard	NM_004841		Approved	nGAP	uc001glq.3	Q9UJF2	OTTHUMG00000035022	ENST00000462775.1:c.1082G>T	1.37:g.178414696G>T	ENSP00000420558:p.Gly361Val					RASAL2_uc001glq.2_Missense_Mutation_p.G509V	p.G361V	NM_004841	NP_004832	Q9UJF2	NGAP_HUMAN			7	1207	+			361			Ras-GAP.		F8W755|O95174|Q2TB22|Q5TFU9	Missense_Mutation	SNP	ENST00000462775.1	37	c.1082G>T	CCDS1322.1	.	.	.	.	.	.	.	.	.	.	G	13.89	2.372746	0.42003	.	.	ENSG00000075391	ENST00000448150;ENST00000367649;ENST00000462775	T;T;T	0.78924	-1.22;-1.22;-1.22	5.28	4.31	0.51392	Rho GTPase activation protein (1);Ras GTPase-activating protein (4);	0.129084	0.52532	D	0.000065	D	0.82309	0.5009	L	0.48642	1.525	0.80722	D	1	P;B	0.52170	0.951;0.288	P;B	0.62491	0.903;0.22	T	0.80973	-0.1143	10	0.36615	T	0.2	.	15.3315	0.74215	0.0:0.2513:0.7487:0.0	.	361;509	Q9UJF2;F8W755	NGAP_HUMAN;.	V	491;509;361	ENSP00000407768:G491V;ENSP00000356621:G509V;ENSP00000420558:G361V	ENSP00000356621:G509V	G	+	2	0	RASAL2	176681319	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	2.779000	0.47734	2.466000	0.83321	0.655000	0.94253	GGA		0.413	RASAL2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000084758.3	NM_170692		44	109	1	0	7.34454e-26	0.00361	1.10442e-25	44	109				
ANGPTL1	9068	broad.mit.edu	37	1	178834850	178834850	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr1:178834850C>A	ENST00000234816.2	-	3	509	c.62G>T	c.(61-63)tGc>tTc	p.C21F	RALGPS2_ENST00000367634.2_Intron|RALGPS2_ENST00000367635.3_Intron|ANGPTL1_ENST00000367629.1_Missense_Mutation_p.C21F	NM_004673.3	NP_004664.1	O95841	ANGL1_HUMAN	angiopoietin-like 1	21					transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	receptor binding (GO:0005102)			breast(2)|endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)	14						TCCACCTCTGCAATGTCCAGT	0.383																																							uc001gma.2		NA																	0					0						c.(61-63)TGC>TTC		angiopoietin-like 1 precursor							70.0	69.0	69.0					1																	178834850		2203	4299	6502	SO:0001583	missense	9068					extracellular space	receptor binding	g.chr1:178834850C>A	AF107253	CCDS1327.1	1q25.2	2013-02-06			ENSG00000116194	ENSG00000116194		"""Fibrinogen C domain containing"""	489	protein-coding gene	gene with protein product	"""angioarrestin"""	603874		ANGPT3		10025962, 9286704	Standard	NM_004673		Approved	ANG3, AngY, ARP1	uc001gma.3	O95841	OTTHUMG00000035075	ENST00000234816.2:c.62G>T	1.37:g.178834850C>A	ENSP00000234816:p.Cys21Phe					RALGPS2_uc001gly.1_Intron|RALGPS2_uc001glz.2_Intron|RALGPS2_uc010pnb.1_Intron|ANGPTL1_uc001gmb.2_Missense_Mutation_p.C21F|ANGPTL1_uc010pnc.1_5'UTR	p.C21F	NM_004673	NP_004664	O95841	ANGL1_HUMAN			3	538	-			21					Q5T5Z5	Missense_Mutation	SNP	ENST00000234816.2	37	c.62G>T	CCDS1327.1	.	.	.	.	.	.	.	.	.	.	C	9.259	1.042634	0.19748	.	.	ENSG00000116194	ENST00000234816;ENST00000367629;ENST00000415564;ENST00000444255	T;T	0.54866	0.55;0.55	5.89	5.89	0.94794	.	0.834806	0.11679	N	0.539964	T	0.46983	0.1421	L	0.50333	1.59	0.28437	N	0.916975	B	0.10296	0.003	B	0.06405	0.002	T	0.39210	-0.9625	10	0.10377	T	0.69	.	14.135	0.65281	0.0:0.9278:0.0:0.0722	.	21	O95841	ANGL1_HUMAN	F	21	ENSP00000234816:C21F;ENSP00000356601:C21F	ENSP00000234816:C21F	C	-	2	0	ANGPTL1	177101473	0.987000	0.35691	0.570000	0.28473	0.500000	0.33767	2.783000	0.47766	2.801000	0.96364	0.650000	0.86243	TGC		0.383	ANGPTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084924.1	NM_004673		10	97	1	0	1.61879e-10	0.001368	2.01649e-10	10	97				
AXDND1	126859	broad.mit.edu	37	1	179460858	179460858	+	Silent	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr1:179460858C>A	ENST00000367618.3	+	19	2664	c.2277C>A	c.(2275-2277)tcC>tcA	p.S759S		NM_144696.4	NP_653297.3	Q5T1B0	AXDN1_HUMAN	axonemal dynein light chain domain containing 1	759										NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	59						ACCAATACTCCAGCTATTTGA	0.413																																							uc001gmo.2		NA																	0					0						c.(2275-2277)TCC>TCA		hypothetical protein LOC126859 isoform 1							145.0	139.0	141.0					1																	179460858		2203	4300	6503	SO:0001819	synonymous_variant	126859							g.chr1:179460858C>A	BX647935	CCDS30948.1	1q25.2	2011-02-18	2011-02-18	2011-02-18	ENSG00000162779	ENSG00000162779			26564	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 125"""	C1orf125		14702039	Standard	NM_144696		Approved	FLJ32940	uc001gmo.3	Q5T1B0	OTTHUMG00000035266	ENST00000367618.3:c.2277C>A	1.37:g.179460858C>A						C1orf125_uc009wxg.2_RNA|C1orf125_uc010pnl.1_RNA|C1orf125_uc001gmp.2_Silent_p.S759S|C1orf125_uc009wxh.2_RNA	p.S759S	NM_144696	NP_653297	Q5T1B0	AXDN1_HUMAN			19	2404	+			759					Q6AWB2|Q96LJ3|Q96M01	Silent	SNP	ENST00000367618.3	37	c.2277C>A	CCDS30948.1																																																																																				0.413	AXDND1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085312.1	NM_144696		46	130	1	0	2.17126e-26	0.00361	3.27474e-26	46	130				
CACNA1E	777	broad.mit.edu	37	1	181767606	181767606	+	Missense_Mutation	SNP	C	C	G			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr1:181767606C>G	ENST00000367573.2	+	48	6578	c.6578C>G	c.(6577-6579)tCc>tGc	p.S2193C	CACNA1E_ENST00000357570.5_Missense_Mutation_p.S2144C|CACNA1E_ENST00000358338.5_Missense_Mutation_p.S2082C|CACNA1E_ENST00000367570.1_Missense_Mutation_p.S2150C|CACNA1E_ENST00000526775.1_Missense_Mutation_p.S2131C|CACNA1E_ENST00000360108.3_Missense_Mutation_p.S2174C|CACNA1E_ENST00000367567.4_Missense_Mutation_p.S1757C	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	2193					calcium ion import (GO:0070509)|energy reserve metabolic process (GO:0006112)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						GAGGAGGGCTCCCCGCTGACC	0.647																																							uc001gow.2		NA																	0				ovary(3)|central_nervous_system(2)|pancreas(1)	6						c.(6448-6450)TCC>TGC		calcium channel, voltage-dependent, R type,							59.0	69.0	66.0					1																	181767606		2102	4228	6330	SO:0001583	missense	777				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr1:181767606C>G	AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1392	protein-coding gene	gene with protein product		601013		CACNL1A6		8388125, 16382099	Standard	NM_001205293		Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000367573.2:c.6578C>G	1.37:g.181767606C>G	ENSP00000356545:p.Ser2193Cys					CACNA1E_uc009wxs.2_Missense_Mutation_p.S2038C|CACNA1E_uc009wxt.2_Missense_Mutation_p.S1419C	p.S2150C	NM_000721	NP_000712	Q15878	CAC1E_HUMAN			47	6614	+			2193			Cytoplasmic (Potential).		B1AM12|B1AM13|B1AM14|Q14580|Q14581	Missense_Mutation	SNP	ENST00000367573.2	37	c.6449C>G	CCDS55664.1	.	.	.	.	.	.	.	.	.	.	C	15.11	2.736891	0.49045	.	.	ENSG00000198216	ENST00000367570;ENST00000526775;ENST00000357570;ENST00000358338;ENST00000367567;ENST00000360108;ENST00000367573	D;D;D;D;D;D;D	0.97209	-4.2;-4.2;-4.09;-4.2;-4.29;-4.09;-4.09	5.55	5.55	0.83447	.	3.538880	0.00695	N	0.000752	D	0.97090	0.9049	L	0.39898	1.24	0.39458	D	0.967529	P;P	0.42620	0.785;0.785	P;P	0.47162	0.54;0.54	D	0.86530	0.1821	10	0.59425	D	0.04	.	17.3658	0.87363	0.0:1.0:0.0:0.0	.	2131;2150	Q15878-2;Q15878-3	.;.	C	2150;2131;2144;2082;1757;2174;2193	ENSP00000356542:S2150C;ENSP00000434814:S2131C;ENSP00000350183:S2144C;ENSP00000351101:S2082C;ENSP00000356539:S1757C;ENSP00000353222:S2174C;ENSP00000356545:S2193C	ENSP00000350183:S2144C	S	+	2	0	CACNA1E	180034229	0.992000	0.36948	0.903000	0.35520	0.256000	0.26092	4.809000	0.62591	2.618000	0.88619	0.558000	0.71614	TCC		0.647	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2	NM_000721		11	60	0	0	0	0.008291	0	11	60				
GLUL	2752	broad.mit.edu	37	1	182353781	182353781	+	Missense_Mutation	SNP	A	A	G	rs189435460	byFrequency	TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr1:182353781A>G	ENST00000331872.6	-	7	1421	c.881T>C	c.(880-882)cTg>cCg	p.L294P	GLUL_ENST00000491322.1_5'UTR|GLUL_ENST00000417584.2_Missense_Mutation_p.L294P|GLUL_ENST00000311223.5_Missense_Mutation_p.L294P|GLUL_ENST00000339526.4_Missense_Mutation_p.L294P	NM_001033044.2	NP_001028216.1	P15104	GLNA_HUMAN	glutamate-ammonia ligase	294					cell proliferation (GO:0008283)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to starvation (GO:0009267)|glutamate catabolic process (GO:0006538)|glutamine biosynthetic process (GO:0006542)|neurotransmitter uptake (GO:0001504)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of insulin secretion (GO:0032024)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|protein homooligomerization (GO:0051260)|response to glucose (GO:0009749)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	axon terminus (GO:0043679)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|glial cell projection (GO:0097386)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perikaryon (GO:0043204)|protein complex (GO:0043234)|rough endoplasmic reticulum (GO:0005791)	ATP binding (GO:0005524)|glutamate binding (GO:0016595)|glutamate decarboxylase activity (GO:0004351)|glutamate-ammonia ligase activity (GO:0004356)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)			endometrium(2)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(1)	16					Ceftriaxone(DB01212)|Diazoxide(DB01119)|L-Glutamine(DB00130)|L-Methionine(DB00134)|Pegvisomant(DB00082)	GGCATTGTCCAGGCCTCCCTT	0.522																																							uc001gpa.1		NA																	0					0						c.(880-882)CTG>CCG		glutamine synthetase	Asparaginase(DB00023)|L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)|L-Methionine(DB00134)						111.0	103.0	105.0					1																	182353781		2203	4300	6503	SO:0001583	missense	2752				cell proliferation|glutamine biosynthetic process|neurotransmitter uptake	cytosol|Golgi apparatus|mitochondrion	ATP binding|glutamate decarboxylase activity|glutamate-ammonia ligase activity|identical protein binding	g.chr1:182353781A>G	AL161952	CCDS1344.1	1q31	2010-05-04	2010-05-04		ENSG00000135821	ENSG00000135821	6.3.1.2		4341	protein-coding gene	gene with protein product	"""glutamine synthetase"""	138290	"""glutamate-ammonia ligase (glutamine synthase)"""	GLNS		1681907, 2888076	Standard	NM_002065		Approved		uc001gpa.2	P15104	OTTHUMG00000037407	ENST00000331872.6:c.881T>C	1.37:g.182353781A>G	ENSP00000356537:p.Leu294Pro					GLUL_uc010pnt.1_Missense_Mutation_p.L81P|GLUL_uc001gpb.1_Missense_Mutation_p.L294P|GLUL_uc001gpc.1_Missense_Mutation_p.L294P|GLUL_uc001gpd.1_Missense_Mutation_p.L294P	p.L294P	NM_001033056	NP_001028228	P15104	GLNA_HUMAN			7	1093	-			294					Q499Y9|Q5T9Z1|Q7Z3W4|Q8IZ17	Missense_Mutation	SNP	ENST00000331872.6	37	c.881T>C	CCDS1344.1	.	.	.	.	.	.	.	.	.	.	A	17.18	3.324080	0.60634	.	.	ENSG00000135821	ENST00000331872;ENST00000311223;ENST00000417584;ENST00000339526	D;D;D;D	0.85773	-2.03;-2.03;-2.03;-2.03	5.47	5.47	0.80525	Glutamine synthetase, catalytic domain (1);Glutamine synthetase/guanido kinase, catalytic domain (1);	0.067679	0.64402	D	0.000009	T	0.78432	0.4282	N	0.17800	0.525	0.80722	D	1	B	0.31859	0.343	B	0.39660	0.306	T	0.78380	-0.2226	10	0.59425	D	0.04	-15.129	9.7155	0.40272	0.8452:0.0:0.0:0.1548	.	294	P15104	GLNA_HUMAN	P	294	ENSP00000356537:L294P;ENSP00000307900:L294P;ENSP00000398320:L294P;ENSP00000344958:L294P	ENSP00000307900:L294P	L	-	2	0	GLUL	180620404	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.568000	0.60857	2.065000	0.61736	0.533000	0.62120	CTG		0.522	GLUL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091043.1	NM_002065		29	72	0	0	0	0.005524	0	29	72				
NCF2	4688	broad.mit.edu	37	1	183529285	183529285	+	Missense_Mutation	SNP	G	G	C			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr1:183529285G>C	ENST00000367535.3	-	14	1665	c.1414C>G	c.(1414-1416)Caa>Gaa	p.Q472E	NCF2_ENST00000367536.1_Missense_Mutation_p.Q472E|NCF2_ENST00000413720.1_Missense_Mutation_p.Q427E|NCF2_ENST00000469280.1_5'Flank|NCF2_ENST00000418089.1_Missense_Mutation_p.Q391E	NM_000433.3	NP_000424.2	P19878	NCF2_HUMAN	neutrophil cytosolic factor 2	472	SH3 2. {ECO:0000255|PROSITE- ProRule:PRU00192}.				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)	TCCTCTGGTTGGGTAGCCTCA	0.438																																							uc001gqj.3		NA																	0				ovary(3)	3						c.(1414-1416)CAA>GAA		neutrophil cytosolic factor 2							208.0	198.0	201.0					1																	183529285		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.chr1:183529285G>C	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.1414C>G	1.37:g.183529285G>C	ENSP00000356505:p.Gln472Glu					NCF2_uc010pod.1_Missense_Mutation_p.Q427E|NCF2_uc010poe.1_Missense_Mutation_p.Q391E|NCF2_uc001gqk.3_Missense_Mutation_p.Q472E	p.Q472E	NM_000433	NP_000424	P19878	NCF2_HUMAN			14	1689	-			472			SH3 2.		B2R6Q1|B4DKQ7|B4DQA7|E9PHJ2|E9PHX3|Q2PP06|Q8NFC7|Q9BV51	Missense_Mutation	SNP	ENST00000367535.3	37	c.1414C>G	CCDS1356.1	.	.	.	.	.	.	.	.	.	.	G	13.66	2.303288	0.40795	.	.	ENSG00000116701	ENST00000367536;ENST00000392014;ENST00000413720;ENST00000418089;ENST00000367535	T;T;T;T	0.46451	0.87;0.87;0.87;0.87	5.45	5.45	0.79879	Src homology-3 domain (4);	0.203730	0.51477	D	0.000090	T	0.44307	0.1287	N	0.04018	-0.295	0.34588	D	0.715223	D;D;D	0.64830	0.992;0.994;0.976	D;D;P	0.78314	0.96;0.991;0.855	T	0.58842	-0.7565	10	0.32370	T	0.25	-16.0046	19.2883	0.94087	0.0:0.0:1.0:0.0	.	391;427;472	E9PHJ2;E9PHX3;P19878	.;.;NCF2_HUMAN	E	472;544;427;391;472	ENSP00000356506:Q472E;ENSP00000399294:Q427E;ENSP00000407217:Q391E;ENSP00000356505:Q472E	ENSP00000356505:Q472E	Q	-	1	0	NCF2	181795908	1.000000	0.71417	1.000000	0.80357	0.588000	0.36517	4.876000	0.63079	2.555000	0.86185	0.655000	0.94253	CAA		0.438	NCF2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085483.1	NM_000433		19	156	0	0	0	0.002299	0	19	156				
COLGALT2	23127	broad.mit.edu	37	1	183913414	183913414	+	Missense_Mutation	SNP	T	T	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr1:183913414T>A	ENST00000361927.4	-	10	1684	c.1313A>T	c.(1312-1314)gAt>gTt	p.D438V	COLGALT2_ENST00000546159.1_Missense_Mutation_p.D438V|COLGALT2_ENST00000367520.3_Missense_Mutation_p.D175V|COLGALT2_ENST00000367521.1_Missense_Mutation_p.D46V	NM_015101.2	NP_055916.1	Q8IYK4	GT252_HUMAN	collagen beta(1-O)galactosyltransferase 2	438					extracellular matrix organization (GO:0030198)|lipopolysaccharide biosynthetic process (GO:0009103)	endoplasmic reticulum lumen (GO:0005788)	procollagen galactosyltransferase activity (GO:0050211)										AAAACGCACATCGTCTTCAAT	0.403																																						Esophageal Squamous(10;42 606 18489 38825)	uc001gqr.2		NA																	0				ovary(1)|breast(1)	2						c.(1312-1314)GAT>GTT		glycosyltransferase 25 domain containing 2							127.0	116.0	120.0					1																	183913414		2203	4300	6503	SO:0001583	missense	23127				lipopolysaccharide biosynthetic process	endoplasmic reticulum lumen	procollagen galactosyltransferase activity	g.chr1:183913414T>A	AF288389	CCDS1360.1	1q25	2013-02-27	2013-02-27	2013-02-27	ENSG00000198756	ENSG00000198756			16790	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 17"", ""glycosyltransferase 25 domain containing 2"""	C1orf17, GLT25D2		19075007	Standard	XM_005245008		Approved	KIAA0584	uc001gqr.3	Q8IYK4	OTTHUMG00000035460	ENST00000361927.4:c.1313A>T	1.37:g.183913414T>A	ENSP00000354960:p.Asp438Val					GLT25D2_uc010poj.1_Missense_Mutation_p.D438V|GLT25D2_uc001gqp.2_Missense_Mutation_p.D46V|GLT25D2_uc001gqq.2_Missense_Mutation_p.D175V|GLT25D2_uc001gqs.2_Missense_Mutation_p.D318V	p.D438V	NM_015101	NP_055916	Q8IYK4	GT252_HUMAN			10	1685	-			438					O60327|Q9BZR0	Missense_Mutation	SNP	ENST00000361927.4	37	c.1313A>T	CCDS1360.1	.	.	.	.	.	.	.	.	.	.	T	20.2	3.946761	0.73672	.	.	ENSG00000198756	ENST00000546159;ENST00000361927;ENST00000367521;ENST00000367520	D;D	0.99070	-5.3;-5.39	5.01	5.01	0.66863	.	0.000000	0.85682	D	0.000000	D	0.99510	0.9825	H	0.96269	3.795	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.91635	0.984;0.996;0.999	D	0.98081	1.0404	10	0.87932	D	0	-13.51	14.7146	0.69257	0.0:0.0:0.0:1.0	.	438;438;175	F5H3T5;Q8IYK4;Q5SXQ3	.;GT252_HUMAN;.	V	438;438;46;175	ENSP00000439112:D438V;ENSP00000354960:D438V	ENSP00000354960:D438V	D	-	2	0	GLT25D2	182180037	1.000000	0.71417	0.622000	0.29159	0.570000	0.35934	7.735000	0.84939	1.885000	0.54596	0.459000	0.35465	GAT		0.403	COLGALT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086128.1	NM_015101		27	44	0	0	0	0.009535	0	27	44				
PLA2G4A	5321	broad.mit.edu	37	1	186908349	186908349	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr1:186908349C>A	ENST00000367466.3	+	9	1057	c.905C>A	c.(904-906)aCa>aAa	p.T302K	PLA2G4A_ENST00000466600.1_3'UTR|PLA2G4A_ENST00000442353.2_Missense_Mutation_p.T242K	NM_024420.2	NP_077734	P47712	PA24A_HUMAN	phospholipase A2, group IVA (cytosolic, calcium-dependent)	302	PLA2c. {ECO:0000255|PROSITE- ProRule:PRU00555}.				arachidonic acid metabolic process (GO:0019369)|arachidonic acid secretion (GO:0050482)|blood coagulation (GO:0007596)|cardiolipin acyl-chain remodeling (GO:0035965)|cellular response to antibiotic (GO:0071236)|glycerophospholipid biosynthetic process (GO:0046474)|icosanoid biosynthetic process (GO:0046456)|icosanoid metabolic process (GO:0006690)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid catabolic process (GO:0009395)|phospholipid metabolic process (GO:0006644)|platelet activating factor biosynthetic process (GO:0006663)|platelet activation (GO:0030168)|regulation of cell proliferation (GO:0042127)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|mitochondrial inner membrane (GO:0005743)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase A2 activity (GO:0047498)|calcium-dependent phospholipid binding (GO:0005544)|lysophospholipase activity (GO:0004622)|phospholipase A2 activity (GO:0004623)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|prostate(3)|skin(4)|stomach(1)	53					Aldesleukin(DB00041)|Carbachol(DB00411)|Carbenicillin(DB00578)|Epirubicin(DB00445)|Fluocinolone Acetonide(DB00591)|Fluticasone Propionate(DB00588)|Niflumic Acid(DB04552)|Orlistat(DB01083)|Quinacrine(DB01103)|Streptokinase(DB00086)|Suramin(DB04786)	ATAGGAGAAACACTAATTCAT	0.284																																							uc001gsc.2		NA																	0				lung(2)|breast(1)	3						c.(904-906)ACA>AAA		cytosolic phospholipase A2, group IVA	Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Medrysone(DB00253)|Quinacrine(DB01103)						49.0	52.0	51.0					1																	186908349		2203	4298	6501	SO:0001583	missense	5321				phospholipid catabolic process|platelet activating factor biosynthetic process|platelet activation	cytosol|endoplasmic reticulum membrane	calcium ion binding|calcium-dependent phospholipid binding|lysophospholipase activity	g.chr1:186908349C>A	M72393	CCDS1372.1	1q25	2014-09-17			ENSG00000116711	ENSG00000116711	3.1.1.4, 3.1.1.5		9035	protein-coding gene	gene with protein product		600522		PLA2G4		8175726	Standard	NM_024420		Approved	cPLA2-alpha	uc001gsc.3	P47712	OTTHUMG00000035512	ENST00000367466.3:c.905C>A	1.37:g.186908349C>A	ENSP00000356436:p.Thr302Lys					PLA2G4A_uc010pos.1_Missense_Mutation_p.T242K	p.T302K	NM_024420	NP_077734	P47712	PA24A_HUMAN			9	1110	+			302			PLA2c.		B1AKG4|Q29R80	Missense_Mutation	SNP	ENST00000367466.3	37	c.905C>A	CCDS1372.1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.702344	0.88924	.	.	ENSG00000116711	ENST00000367466;ENST00000442353	T;T	0.10960	2.82;2.82	5.93	5.93	0.95920	Acyl transferase/acyl hydrolase/lysophospholipase (1);Lysophospholipase, catalytic domain (3);	0.000000	0.85682	D	0.000000	T	0.25344	0.0616	L	0.46157	1.445	0.80722	D	1	D;D	0.60575	0.988;0.986	D;P	0.62955	0.909;0.877	T	0.00359	-1.1791	10	0.22109	T	0.4	-21.4085	19.3388	0.94332	0.0:1.0:0.0:0.0	.	242;302	E7EU42;P47712	.;PA24A_HUMAN	K	302;242	ENSP00000356436:T302K;ENSP00000406892:T242K	ENSP00000356436:T302K	T	+	2	0	PLA2G4A	185174972	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.711000	0.84669	2.808000	0.96608	0.655000	0.94253	ACA		0.284	PLA2G4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086236.1	NM_024420		18	26	1	0	1.56452e-12	0.007413	2.0161e-12	18	26				
RGS18	64407	broad.mit.edu	37	1	192127878	192127878	+	Silent	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr1:192127878C>A	ENST00000367460.3	+	1	292	c.111C>A	c.(109-111)gcC>gcA	p.A37A	RGS18_ENST00000481707.1_3'UTR	NM_130782.2	NP_570138.1	Q9NS28	RGS18_HUMAN	regulator of G-protein signaling 18	37					G-protein coupled receptor signaling pathway (GO:0007186)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)			kidney(1)|large_intestine(2)|lung(15)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GCAAAGAAGCCAAAATCAGGT	0.289																																							uc001gsg.2		NA																	0				ovary(3)	3						c.(109-111)GCC>GCA		regulator of G-protein signalling 18							48.0	51.0	50.0					1																	192127878		2202	4287	6489	SO:0001819	synonymous_variant	64407				negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity	g.chr1:192127878C>A	AF268036	CCDS1374.1	1q31.2	2008-02-05	2007-08-14		ENSG00000150681	ENSG00000150681		"""Regulators of G-protein signaling"""	14261	protein-coding gene	gene with protein product		607192	"""regulator of G-protein signalling 18"""			11042171	Standard	NM_130782		Approved	RGS13	uc001gsg.3	Q9NS28	OTTHUMG00000035592	ENST00000367460.3:c.111C>A	1.37:g.192127878C>A							p.A37A	NM_130782	NP_570138	Q9NS28	RGS18_HUMAN			1	287	+			37					B2RD23	Silent	SNP	ENST00000367460.3	37	c.111C>A	CCDS1374.1																																																																																				0.289	RGS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086382.1	NM_130782		21	39	1	0	6.32553e-13	0.004656	8.21423e-13	21	39				
RGS2	5997	broad.mit.edu	37	1	192780233	192780233	+	Missense_Mutation	SNP	A	A	G			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr1:192780233A>G	ENST00000235382.5	+	4	428	c.397A>G	c.(397-399)Agg>Ggg	p.R133G		NM_002923.3	NP_002914.1	P41220	RGS2_HUMAN	regulator of G-protein signaling 2	133	RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				brown fat cell differentiation (GO:0050873)|cell cycle (GO:0007049)|negative regulation of cAMP-mediated signaling (GO:0043951)|negative regulation of cardiac muscle hypertrophy (GO:0010614)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of phospholipase activity (GO:0010519)|positive regulation of cardiac muscle contraction (GO:0060452)|positive regulation of microtubule polymerization (GO:0031116)|regulation of adrenergic receptor signaling pathway (GO:0071877)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of translation (GO:0006417)|relaxation of cardiac muscle (GO:0055119)|relaxation of vascular smooth muscle (GO:0060087)|spermatogenesis (GO:0007283)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calmodulin binding (GO:0005516)|GTPase activator activity (GO:0005096)			large_intestine(3)|lung(1)|urinary_tract(1)	5						CTCAAAAGCAAGGAAAATATA	0.363																																					Pancreas(71;51 2183 4981)	Pancreas(71;51 2183 4981)	uc001gsl.2		NA																	0					0						c.(397-399)AGG>GGG		regulator of G-protein signaling 2							105.0	113.0	110.0					1																	192780233		2203	4300	6503	SO:0001583	missense	5997				cell cycle|negative regulation of cardiac muscle hypertrophy|negative regulation of G-protein coupled receptor protein signaling pathway|negative regulation of MAP kinase activity|negative regulation of phospholipase activity|positive regulation of cardiac muscle contraction|regulation of adrenergic receptor signaling pathway|regulation of translation|relaxation of cardiac muscle	cytosol|internal side of plasma membrane|mitochondrion|nucleolus	calmodulin binding|GTPase activator activity|signal transducer activity	g.chr1:192780233A>G	L13463	CCDS1377.1	1q31	2014-06-19	2014-06-19		ENSG00000116741	ENSG00000116741		"""Regulators of G-protein signaling"", ""Endogenous ligands"""	9998	protein-coding gene	gene with protein product		600861	"""regulator of G-protein signalling 2, 24kD"", ""regulator of G-protein signalling 2, 24kDa"", ""regulator of G-protein signaling 2, 24kDa"""	G0S8		8179820	Standard	NM_002923		Approved		uc001gsl.3	P41220	OTTHUMG00000035600	ENST00000235382.5:c.397A>G	1.37:g.192780233A>G	ENSP00000235382:p.Arg133Gly						p.R133G	NM_002923	NP_002914	P41220	RGS2_HUMAN			4	430	+			133			RGS.		Q6I9U5	Missense_Mutation	SNP	ENST00000235382.5	37	c.397A>G	CCDS1377.1	.	.	.	.	.	.	.	.	.	.	A	13.53	2.264831	0.40095	.	.	ENSG00000116741	ENST00000235382	T	0.02032	4.49	5.0	3.8	0.43715	Regulator of G protein signalling (4);Regulator of G protein signalling superfamily (1);	0.356293	0.34314	N	0.004067	T	0.04227	0.0117	M	0.75264	2.295	0.42178	D	0.991676	B	0.30211	0.273	B	0.24974	0.057	T	0.20874	-1.0262	10	0.87932	D	0	.	12.0741	0.53634	0.8463:0.1537:0.0:0.0	.	133	P41220	RGS2_HUMAN	G	133	ENSP00000235382:R133G	ENSP00000235382:R133G	R	+	1	2	RGS2	191046856	0.975000	0.34042	0.999000	0.59377	0.990000	0.78478	2.751000	0.47508	1.874000	0.54306	0.460000	0.39030	AGG		0.363	RGS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086396.1	NM_002923		30	79	0	0	0	0.004878	0	30	79				
CFH	3075	broad.mit.edu	37	1	196716404	196716404	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr1:196716404G>T	ENST00000367429.4	+	22	3897	c.3657G>T	c.(3655-3657)tgG>tgT	p.W1219C		NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	1219	Sushi 20. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heparan sulfate proteoglycan binding (GO:0043395)|heparin binding (GO:0008201)			NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						CAACATGTTGGGATGGGAAAC	0.368																																							uc001gtj.3		NA																	0				skin(4)|ovary(1)|breast(1)	6						c.(3655-3657)TGG>TGT		complement factor H isoform a precursor							131.0	111.0	118.0					1																	196716404		2203	4297	6500	SO:0001583	missense	3075				complement activation, alternative pathway	extracellular space		g.chr1:196716404G>T	Y00716	CCDS1385.1	1q32	2014-09-17	2004-08-09	2004-08-12	ENSG00000000971	ENSG00000000971		"""Complement system"""	4883	protein-coding gene	gene with protein product	"""beta-1H"", ""H factor 2 (complement)"", ""age-related maculopathy susceptibility 1"""	134370	"""H factor 1 (complement)"""	HF, HF1, HF2		2889480, 2963625	Standard	NM_000186		Approved	HUS, FHL1, ARMS1, ARMD4	uc001gtj.4	P08603	OTTHUMG00000035607	ENST00000367429.4:c.3657G>T	1.37:g.196716404G>T	ENSP00000356399:p.Trp1219Cys						p.W1219C	NM_000186	NP_000177	P08603	CFAH_HUMAN			22	3897	+			1219			Sushi 20.		A5PL14|P78435|Q14570|Q2TAZ5|Q38G77|Q5TFM3|Q8N708|Q9NU86	Missense_Mutation	SNP	ENST00000367429.4	37	c.3657G>T	CCDS1385.1	.	.	.	.	.	.	.	.	.	.	.	10.73	1.433359	0.25813	.	.	ENSG00000000971	ENST00000367429	D	0.92805	-3.11	4.35	-1.17	0.09648	Complement control module (1);Sushi/SCR/CCP (3);	.	.	.	.	T	0.81992	0.4940	N	0.08118	0	0.09310	N	1	P	0.38978	0.652	B	0.43536	0.423	T	0.73717	-0.3895	9	0.37606	T	0.19	.	3.9848	0.09511	0.2868:0.0:0.2135:0.4997	.	1219	P08603	CFAH_HUMAN	C	1219	ENSP00000356399:W1219C	ENSP00000356399:W1219C	W	+	3	0	CFH	194983027	0.000000	0.05858	0.002000	0.10522	0.054000	0.15201	-1.351000	0.02622	-0.080000	0.12685	0.455000	0.32223	TGG		0.368	CFH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086412.2	NM_000186		46	64	1	0	1.60673e-49	0.00361	2.5939e-49	46	64				
ELF3	1999	broad.mit.edu	37	1	201981192	201981192	+	Missense_Mutation	SNP	G	G	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr1:201981192G>A	ENST00000359651.3	+	2	3463	c.271G>A	c.(271-273)Gac>Aac	p.D91N	ELF3_ENST00000495848.1_3'UTR|ELF3_ENST00000367283.3_Missense_Mutation_p.D91N|RP11-465N4.4_ENST00000419190.1_RNA|ELF3_ENST00000367284.5_Missense_Mutation_p.D91N|RP11-510N19.5_ENST00000504773.1_RNA					E74-like factor 3 (ets domain transcription factor, epithelial-specific )											breast(2)|endometrium(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	20						AAGCGCCATTGACTTCTCACG	0.577																																							uc001gxg.3		NA																	0					0						c.(271-273)GAC>AAC		E74-like factor 3 (ets domain transcription							106.0	100.0	102.0					1																	201981192		2203	4300	6503	SO:0001583	missense	1999				epidermis development|epithelial cell differentiation|inflammatory response|mammary gland involution|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi apparatus|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr1:201981192G>A	AF016295	CCDS1419.1	1q32.2	2008-02-05			ENSG00000163435	ENSG00000163435			3318	protein-coding gene	gene with protein product		602191		ESX		9395241, 9129154	Standard	NM_001114309		Approved	EPR-1, ESE-1, ERT	uc001gxh.4	P78545	OTTHUMG00000035867	ENST00000359651.3:c.271G>A	1.37:g.201981192G>A	ENSP00000352673:p.Asp91Asn					ELF3_uc001gxi.3_Missense_Mutation_p.D91N|ELF3_uc001gxh.3_Missense_Mutation_p.D91N	p.D91N	NM_004433	NP_004424	P78545	ELF3_HUMAN			2	3463	+			91			PNT.			Missense_Mutation	SNP	ENST00000359651.3	37	c.271G>A	CCDS1419.1	.	.	.	.	.	.	.	.	.	.	G	14.54	2.566133	0.45694	.	.	ENSG00000163435	ENST00000359651;ENST00000367284;ENST00000367283;ENST00000310044;ENST00000446188	T;T;T;T	0.33216	1.42;1.42;1.42;1.42	5.56	5.56	0.83823	Sterile alpha motif/pointed domain (2);Pointed domain (3);	0.160724	0.56097	D	0.000030	T	0.52629	0.1746	L	0.56769	1.78	0.44352	D	0.997249	D	0.89917	1.0	D	0.77004	0.989	T	0.34079	-0.9843	10	0.24483	T	0.36	.	19.5332	0.95237	0.0:0.0:1.0:0.0	.	91	P78545	ELF3_HUMAN	N	91;91;91;91;89	ENSP00000352673:D91N;ENSP00000356253:D91N;ENSP00000356252:D91N;ENSP00000405162:D89N	ENSP00000311348:D91N	D	+	1	0	ELF3	200247815	1.000000	0.71417	0.990000	0.47175	0.176000	0.22953	5.439000	0.66556	2.608000	0.88229	0.591000	0.81541	GAC		0.577	ELF3-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087360.1	NM_004433		25	89	0	0	0	0.00632	0	25	89				
SYT2	127833	broad.mit.edu	37	1	202571541	202571541	+	Missense_Mutation	SNP	G	G	T	rs551242051		TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr1:202571541G>T	ENST00000367267.1	-	5	790	c.598C>A	c.(598-600)Ctg>Atg	p.L200M	RP11-569A11.1_ENST00000428573.1_RNA|SYT2_ENST00000367268.4_Missense_Mutation_p.L200M	NM_001136504.1	NP_001129976.1	Q8N9I0	SYT2_HUMAN	synaptotagmin II	200	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.|Phospholipid binding. {ECO:0000250}.				neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|endocytic vesicle membrane (GO:0030666)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|transporter activity (GO:0005215)			NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|ovary(2)|skin(2)|urinary_tract(1)	29			BRCA - Breast invasive adenocarcinoma(75;0.169)		Botulinum Toxin Type B(DB00042)	GCAGGGTTCAGTGTCTTCCGA	0.522																																							uc001gye.2		NA																	0				ovary(2)|skin(1)	3						c.(598-600)CTG>ATG		synaptotagmin II	Botulinum Toxin Type B(DB00042)						158.0	150.0	153.0					1																	202571541		2203	4300	6503	SO:0001583	missense	127833				neurotransmitter secretion	cell junction|chromaffin granule membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane	protein binding|transporter activity	g.chr1:202571541G>T	AK090672	CCDS1427.1	1q32.1	2013-01-21			ENSG00000143858	ENSG00000143858		"""Synaptotagmins"""	11510	protein-coding gene	gene with protein product		600104				7749232	Standard	NM_177402		Approved		uc010pqb.2	Q8N9I0	OTTHUMG00000041388	ENST00000367267.1:c.598C>A	1.37:g.202571541G>T	ENSP00000356236:p.Leu200Met					SYT2_uc010pqb.1_Missense_Mutation_p.L200M|SYT2_uc009xaf.2_Missense_Mutation_p.L30M	p.L200M	NM_001136504	NP_001129976	Q8N9I0	SYT2_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.169)		5	791	-			200			Phospholipid binding (By similarity).|C2 1.|Cytoplasmic (Potential).		Q496K5|Q8NBE5	Missense_Mutation	SNP	ENST00000367267.1	37	c.598C>A	CCDS1427.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.990762	0.74589	.	.	ENSG00000143858	ENST00000367268;ENST00000367267	T;T	0.11712	2.75;2.75	5.58	3.72	0.42706	C2 membrane targeting protein (1);C2 region (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	T	0.41673	0.1169	M	0.93978	3.48	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.52495	-0.8568	10	0.87932	D	0	.	12.1788	0.54199	0.1407:0.0:0.8593:0.0	.	200	Q8N9I0	SYT2_HUMAN	M	200	ENSP00000356237:L200M;ENSP00000356236:L200M	ENSP00000356236:L200M	L	-	1	2	SYT2	200838164	1.000000	0.71417	0.693000	0.30195	0.957000	0.61999	5.768000	0.68858	0.726000	0.32339	-0.137000	0.14449	CTG		0.522	SYT2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099157.1	NM_177402		51	114	1	0	3.21867e-24	0.00361	4.77594e-24	51	114				
ATP2B4	493	broad.mit.edu	37	1	203669355	203669355	+	Missense_Mutation	SNP	G	G	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr1:203669355G>A	ENST00000357681.5	+	5	1794	c.671G>A	c.(670-672)gGa>gAa	p.G224E	ATP2B4_ENST00000391954.2_Missense_Mutation_p.G224E|ATP2B4_ENST00000367219.3_Missense_Mutation_p.G224E|ATP2B4_ENST00000341360.2_Missense_Mutation_p.G224E|ATP2B4_ENST00000367218.3_Missense_Mutation_p.G224E	NM_001684.4	NP_001675.3	P23634	AT2B4_HUMAN	ATPase, Ca++ transporting, plasma membrane 4	224					blood coagulation (GO:0007596)|calcium ion homeostasis (GO:0055074)|calcium ion import across plasma membrane (GO:0098703)|calcium ion transmembrane transport (GO:0070588)|cellular calcium ion homeostasis (GO:0006874)|cellular response to epinephrine stimulus (GO:0071872)|ion transmembrane transport (GO:0034220)|negative regulation of adrenergic receptor signaling pathway involved in heart process (GO:1901205)|negative regulation of arginine catabolic process (GO:1900082)|negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of cardiac muscle hypertrophy in response to stress (GO:1903243)|negative regulation of citrulline biosynthetic process (GO:1903249)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of nitric oxide mediated signal transduction (GO:0010751)|negative regulation of nitric-oxide synthase activity (GO:0051001)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of the force of heart contraction (GO:0098736)|positive regulation of cAMP-dependent protein kinase activity (GO:2000481)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to hydrostatic pressure (GO:0051599)|transmembrane transport (GO:0055085)	caveola (GO:0005901)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|calmodulin binding (GO:0005516)|metal ion binding (GO:0046872)|nitric-oxide synthase binding (GO:0050998)|protein phosphatase 2B binding (GO:0030346)|scaffold protein binding (GO:0097110)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3)	56	all_cancers(21;0.071)|all_epithelial(62;0.228)		BRCA - Breast invasive adenocarcinoma(75;0.109)			CCTGCAGATGGAATCCTGATC	0.512																																							uc001gzw.2		NA																	0				ovary(2)|skin(1)	3						c.(670-672)GGA>GAA		plasma membrane calcium ATPase 4 isoform 4b							112.0	109.0	110.0					1																	203669355		2203	4300	6503	SO:0001583	missense	493				ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding	g.chr1:203669355G>A	M25874	CCDS1440.1, CCDS30977.1	1q32.1	2010-04-20	2005-05-26		ENSG00000058668	ENSG00000058668	3.6.3.8	"""ATPases / P-type"""	817	protein-coding gene	gene with protein product	"""plasma membrane calcium-transporting ATPase 4"""	108732	"""matrix-remodelling associated 1"""	ATP2B2, MXRA1		1674727	Standard	NM_001001396		Approved	PMCA4	uc001gzw.3	P23634	OTTHUMG00000035906	ENST00000357681.5:c.671G>A	1.37:g.203669355G>A	ENSP00000350310:p.Gly224Glu					ATP2B4_uc001gzv.2_Missense_Mutation_p.G224E|ATP2B4_uc009xaq.2_Missense_Mutation_p.G224E	p.G224E	NM_001684	NP_001675	P23634	AT2B4_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.109)		5	1555	+	all_cancers(21;0.071)|all_epithelial(62;0.228)		224			Cytoplasmic (Potential).		B1APW5|B1APW6|Q13450|Q13452|Q13455|Q16817|Q7Z3S1	Missense_Mutation	SNP	ENST00000357681.5	37	c.671G>A	CCDS1440.1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.848261	0.91277	.	.	ENSG00000058668	ENST00000357681;ENST00000367218;ENST00000367219;ENST00000391954;ENST00000341360	D;D;D;D;D	0.92965	-3.14;-3.14;-3.14;-3.14;-3.14	4.9	4.9	0.64082	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.000000	0.51477	D	0.000100	D	0.97851	0.9294	H	0.98314	4.2	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.99690	1.1001	10	0.87932	D	0	-23.7404	18.036	0.89302	0.0:0.0:1.0:0.0	.	224;224;224	P23634;P23634-6;B1APW5	AT2B4_HUMAN;.;.	E	224	ENSP00000350310:G224E;ENSP00000356187:G224E;ENSP00000356188:G224E;ENSP00000375816:G224E;ENSP00000340930:G224E	ENSP00000340930:G224E	G	+	2	0	ATP2B4	201935978	1.000000	0.71417	0.961000	0.40146	0.912000	0.54170	9.807000	0.99171	2.427000	0.82271	0.561000	0.74099	GGA		0.512	ATP2B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087462.1	NM_001001396		7	148	0	0	0	0.001984	0	7	148				
CNTN2	6900	broad.mit.edu	37	1	205042860	205042860	+	Silent	SNP	G	G	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr1:205042860G>A	ENST00000331830.4	+	23	3374	c.3090G>A	c.(3088-3090)gcG>gcA	p.A1030A		NM_005076.3	NP_005067.1	Q02246	CNTN2_HUMAN	contactin 2 (axonal)	1030					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|central nervous system myelination (GO:0022010)|cerebral cortex GABAergic interneuron migration (GO:0021853)|clustering of voltage-gated potassium channels (GO:0045163)|establishment of protein localization to juxtaparanode region of axon (GO:0071206)|learning (GO:0007612)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of neuron differentiation (GO:0045665)|positive regulation of adenosine receptor signaling pathway (GO:0060168)|positive regulation of protein processing (GO:0010954)|presynaptic membrane organization (GO:0097090)|receptor internalization (GO:0031623)|regulation of astrocyte differentiation (GO:0048710)|regulation of axon diameter (GO:0031133)|regulation of neuronal synaptic plasticity (GO:0048168)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|juxtaparanode region of axon (GO:0044224)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|synapse (GO:0045202)|voltage-gated potassium channel complex (GO:0008076)	carbohydrate binding (GO:0030246)|identical protein binding (GO:0042802)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	54	all_cancers(21;0.144)|Breast(84;0.0437)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			ACTCCGTGGCGATGCTGATCC	0.622																																					Melanoma(183;2548 2817 37099 41192)	Melanoma(183;2548 2817 37099 41192)	uc001hbr.2		NA																	0				ovary(1)	1						c.(3088-3090)GCG>GCA		contactin 2 precursor							123.0	95.0	104.0					1																	205042860		2203	4300	6503	SO:0001819	synonymous_variant	6900				axon guidance|clustering of voltage-gated potassium channels	anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part	identical protein binding	g.chr1:205042860G>A	X67734	CCDS1449.1	1q32.1	2013-02-11			ENSG00000184144	ENSG00000184144		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2172	protein-coding gene	gene with protein product		190197		TAX, AXT		8307567, 8586965	Standard	NM_005076		Approved	TAG-1, TAX1	uc001hbr.3	Q02246	OTTHUMG00000037105	ENST00000331830.4:c.3090G>A	1.37:g.205042860G>A						CNTN2_uc001hbs.2_Silent_p.A818A	p.A1030A	NM_005076	NP_005067	Q02246	CNTN2_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)		23	3359	+	all_cancers(21;0.144)|Breast(84;0.0437)		1030					P78432|Q5T054	Silent	SNP	ENST00000331830.4	37	c.3090G>A	CCDS1449.1																																																																																				0.622	CNTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090080.3	NM_005076		10	54	0	0	0	0.001855	0	10	54				
TMCC2	9911	broad.mit.edu	37	1	205197741	205197741	+	Missense_Mutation	SNP	G	G	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr1:205197741G>A	ENST00000358024.3	+	1	438	c.49G>A	c.(49-51)Gat>Aat	p.D17N	TMCC2_ENST00000545499.1_5'Flank	NM_014858.3	NP_055673.2	O75069	TMCC2_HUMAN	transmembrane and coiled-coil domain family 2	17						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(3)|pancreas(1)|skin(1)|urinary_tract(1)	20	Breast(84;0.0871)		BRCA - Breast invasive adenocarcinoma(75;0.117)			GGGCGAGGAGGATGGAGCTGG	0.647																																							uc001hbz.1		NA																	0				pancreas(1)	1						c.(49-51)GAT>AAT		transmembrane and coiled-coil domain family 2							48.0	50.0	49.0					1																	205197741		2203	4300	6503	SO:0001583	missense	9911					integral to membrane	protein binding	g.chr1:205197741G>A	AB001596	CCDS30984.1, CCDS55676.1, CCDS73010.1	1q32.1	2008-02-05	2005-07-13		ENSG00000133069	ENSG00000133069		"""Transmembrane and coiled-coil domain containing"""	24239	protein-coding gene	gene with protein product			"""transmembrane and coiled-coil domains 2"""			9455484	Standard	NM_014858		Approved	HUCEP11, FLJ38497	uc021pia.1	O75069	OTTHUMG00000037195	ENST00000358024.3:c.49G>A	1.37:g.205197741G>A	ENSP00000350718:p.Asp17Asn					TMCC2_uc010prf.1_5'Flank	p.D17N	NM_014858	NP_055673	O75069	TMCC2_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.117)		2	493	+	Breast(84;0.0871)		17					A2RRH3|B7Z1P7|Q6ZN09	Missense_Mutation	SNP	ENST00000358024.3	37	c.49G>A	CCDS30984.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.050866	0.75960	.	.	ENSG00000133069	ENST00000358024	T	0.37411	1.2	4.88	4.88	0.63580	.	0.236045	0.30185	N	0.010204	T	0.24236	0.0587	N	0.14661	0.345	0.80722	D	1	P	0.40970	0.734	B	0.37015	0.239	T	0.15407	-1.0438	10	0.87932	D	0	.	15.3339	0.74234	0.0:0.0:1.0:0.0	.	17	O75069	TMCC2_HUMAN	N	17	ENSP00000350718:D17N	ENSP00000350718:D17N	D	+	1	0	TMCC2	203464364	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.240000	0.65378	2.402000	0.81655	0.563000	0.77884	GAT		0.647	TMCC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000090383.1	NM_014858		23	48	0	0	0	0.002096	0	23	48				
SLC41A1	254428	broad.mit.edu	37	1	205779211	205779211	+	Missense_Mutation	SNP	A	A	G			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr1:205779211A>G	ENST00000367137.3	-	2	1373	c.359T>C	c.(358-360)tTg>tCg	p.L120S		NM_173854.4	NP_776253.3	Q8IVJ1	S41A1_HUMAN	solute carrier family 41 (magnesium transporter), member 1	120					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cation transmembrane transporter activity (GO:0008324)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	17	Breast(84;0.0799)		BRCA - Breast invasive adenocarcinoma(75;0.0252)			CACGATGTCCAACACCATGCC	0.582																																							uc001hdh.1		NA																	0				skin(2)	2						c.(358-360)TTG>TCG		solute carrier family 41 member 1							88.0	84.0	85.0					1																	205779211		2203	4300	6503	SO:0001583	missense	254428					integral to membrane|plasma membrane	magnesium ion transmembrane transporter activity	g.chr1:205779211A>G	AJ514402	CCDS30988.1	1q32.1	2013-07-17	2013-07-17		ENSG00000133065	ENSG00000133065		"""Solute carriers"""	19429	protein-coding gene	gene with protein product		610801				12810078, 18367447	Standard	NM_173854		Approved	MgtE	uc001hdh.1	Q8IVJ1	OTTHUMG00000036000	ENST00000367137.3:c.359T>C	1.37:g.205779211A>G	ENSP00000356105:p.Leu120Ser						p.L120S	NM_173854	NP_776253	Q8IVJ1	S41A1_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.0252)		2	1231	-	Breast(84;0.0799)		120			Helical; (Potential).		Q63HJ4|Q658Z5|Q659A4|Q6MZK2	Missense_Mutation	SNP	ENST00000367137.3	37	c.359T>C	CCDS30988.1	.	.	.	.	.	.	.	.	.	.	A	24.0	4.480079	0.84747	.	.	ENSG00000133065	ENST00000367137	T	0.37915	1.17	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.64125	0.2570	M	0.82716	2.605	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.69993	-0.4994	10	0.87932	D	0	-18.2337	15.5094	0.75769	1.0:0.0:0.0:0.0	.	120	Q8IVJ1	S41A1_HUMAN	S	120	ENSP00000356105:L120S	ENSP00000356105:L120S	L	-	2	0	SLC41A1	204045834	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	9.223000	0.95203	2.147000	0.66899	0.449000	0.29647	TTG		0.582	SLC41A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087731.1			13	53	0	0	0	0.001368	0	13	53				
CTSE	1510	broad.mit.edu	37	1	206317609	206317610	+	Silent	DNP	CC	CC	TT			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	CC	CC	-	-	CC	CC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr1:206317609_206317610CC>TT	ENST00000358184.2	+	1	151_152	c.33_34CC>TT	c.(31-36)ctCCtg>ctTTtg	p.11_12LL>LL	CTSE_ENST00000432969.2_5'UTR|CTSE_ENST00000361052.3_Silent_p.11_12LL>LL|CTSE_ENST00000360218.2_Silent_p.11_12LL>LL	NM_001910.3	NP_001901.1	P14091	CATE_HUMAN	cathepsin E	11					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|digestion (GO:0007586)|protein autoprocessing (GO:0016540)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)	aspartic-type endopeptidase activity (GO:0004190)			endometrium(2)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|skin(3)	16			BRCA - Breast invasive adenocarcinoma(75;0.0754)			TGCTGGTGCTCCTGGAGCTGGG	0.599																																							uc001hdu.2		NA																	0				ovary(1)	1						c.(31-36)CTCCTG>CTTTTG		cathepsin E isoform a preproprotein																																				SO:0001819	synonymous_variant	1510				antigen processing and presentation of exogenous peptide antigen via MHC class II|digestion|proteolysis	endosome	aspartic-type endopeptidase activity	g.chr1:206317609_206317610CC>TT	BC042537	CCDS73012.1, CCDS73013.1	1q32.1	2008-02-05			ENSG00000196188	ENSG00000196188	3.4.23.5	"""Cathepsins"""	2530	protein-coding gene	gene with protein product		116890				2369841, 2674141	Standard	NM_001910		Approved		uc001hdu.3	P14091	OTTHUMG00000036121	Exception_encountered	1.37:g.206317609_206317610delinsTT						CTSE_uc001hdv.2_Silent_p.11_12LL>LL|CTSE_uc010prs.1_5'UTR	p.11_12LL>LL	NM_001910	NP_001901	P14091	CATE_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.0754)		1	151_152	+			11_12					Q5TZ01|Q5TZ02|Q9NY58|Q9UCE3|Q9UCE4	Silent	DNP	ENST00000358184.2	37	c.33_34CC>TT	CCDS1462.1																																																																																				0.599	CTSE-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000087998.1	NM_001910		17	55	0	0	0	0.004672	0	17	55				
RPS6KC1	26750	broad.mit.edu	37	1	213277908	213277908	+	Silent	SNP	C	C	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr1:213277908C>T	ENST00000366960.3	+	4	525	c.375C>T	c.(373-375)ttC>ttT	p.F125F	RPS6KC1_ENST00000490299.1_3'UTR|RPS6KC1_ENST00000366959.3_Silent_p.F113F|RPS6KC1_ENST00000543470.1_5'UTR|RPS6KC1_ENST00000543354.1_5'UTR	NM_012424.3	NP_036556.2	Q96S38	KS6C1_HUMAN	ribosomal protein S6 kinase, 52kDa, polypeptide 1	125	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				signal transduction (GO:0007165)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(6)|kidney(4)|large_intestine(8)|liver(2)|lung(15)|ovary(3)|prostate(1)|urinary_tract(3)	43				OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145)		AAGACTTTTTCAAGGTTTGGT	0.303																																							uc010ptr.1		NA																	0				lung(4)|ovary(3)|breast(1)	8						c.(373-375)TTC>TTT		ribosomal protein S6 kinase, 52kDa, polypeptide							94.0	92.0	93.0					1																	213277908		2203	4300	6503	SO:0001819	synonymous_variant	26750				cell communication|signal transduction	early endosome|membrane	ATP binding|phosphatidylinositol binding|protein binding|protein serine/threonine kinase activity	g.chr1:213277908C>T	AF037447	CCDS1513.1, CCDS44317.1, CCDS73028.1, CCDS73029.1, CCDS73030.1	1q41	2011-04-05	2002-08-29		ENSG00000136643	ENSG00000136643			10439	protein-coding gene	gene with protein product			"""ribosomal protein S6 kinase, 52kD, polypeptide 1"""			10552933	Standard	XM_005273095		Approved	humS6PKh1	uc010ptr.2	Q96S38	OTTHUMG00000036926	ENST00000366960.3:c.375C>T	1.37:g.213277908C>T						RPS6KC1_uc001hkd.2_Silent_p.F113F|RPS6KC1_uc010pts.1_5'UTR|RPS6KC1_uc010ptt.1_5'UTR|RPS6KC1_uc010ptu.1_5'UTR|RPS6KC1_uc010ptv.1_5'UTR|RPS6KC1_uc001hke.2_5'UTR	p.F125F	NM_012424	NP_036556	Q96S38	KS6C1_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145)	4	534	+			125			PX.		B1APS8|B3KVM4|D3DTA4|Q8TDD3|Q9NSF4|Q9UL66	Silent	SNP	ENST00000366960.3	37	c.375C>T	CCDS1513.1																																																																																				0.303	RPS6KC1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000089690.3	NM_012424		11	65	0	0	0	0.000978	0	11	65				
USH2A	7399	broad.mit.edu	37	1	216173749	216173749	+	Missense_Mutation	SNP	T	T	C	rs146282882		TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr1:216173749T>C	ENST00000307340.3	-	33	6867	c.6481A>G	c.(6481-6483)Ata>Gta	p.I2161V	USH2A_ENST00000366943.2_Missense_Mutation_p.I2161V	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2161	Fibronectin type-III 8. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		ACTTACTGTATGTGTATAGTT	0.433										HNSCC(13;0.011)			T|||	1	0.000199681	0.0	0.0	5008	,	,		19251	0.0		0.001	False		,,,				2504	0.0						uc001hku.1		NA																	0				ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26						c.(6481-6483)ATA>GTA		usherin isoform B							95.0	88.0	91.0					1																	216173749		2203	4299	6502	SO:0001583	missense	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:216173749T>C	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.6481A>G	1.37:g.216173749T>C	ENSP00000305941:p.Ile2161Val	HNSCC(13;0.011)					p.I2161V	NM_206933	NP_996816	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	33	6868	-			2161			Extracellular (Potential).|Fibronectin type-III 8.		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.6481A>G	CCDS31025.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	T	0.006	-2.026645	0.00414	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.49432	0.78;0.78	6.05	-3.29	0.05017	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.575040	0.14106	N	0.341077	T	0.12817	0.0311	N	0.01289	-0.905	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.31251	-0.9950	10	0.02654	T	1	.	7.5225	0.27637	0.0995:0.5215:0.0:0.3789	.	2161	O75445	USH2A_HUMAN	V	2161	ENSP00000305941:I2161V;ENSP00000355910:I2161V	ENSP00000305941:I2161V	I	-	1	0	USH2A	214240372	0.000000	0.05858	0.000000	0.03702	0.044000	0.14063	-0.236000	0.09003	-0.858000	0.04110	-0.137000	0.14449	ATA		0.433	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		8	85	0	0	0	0.008291	0	8	85				
HHIPL2	79802	broad.mit.edu	37	1	222717462	222717462	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr1:222717462C>A	ENST00000343410.6	-	2	449	c.391G>T	c.(391-393)Ggc>Tgc	p.G131C		NM_024746.3	NP_079022.2	Q6UWX4	HIPL2_HUMAN	HHIP-like 2	131					carbohydrate metabolic process (GO:0005975)	extracellular region (GO:0005576)	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor (GO:0016901)|quinone binding (GO:0048038)			NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59				GBM - Glioblastoma multiforme(131;0.0185)		GAGCAGAGGCCCGGGAGATTC	0.582																																							uc001hnh.1		NA																	0				ovary(1)	1						c.(391-393)GGC>TGC		HHIP-like 2 precursor							87.0	100.0	96.0					1																	222717462		1972	4158	6130	SO:0001583	missense	79802				carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding	g.chr1:222717462C>A	BC007638	CCDS1530.2	1q41	2008-02-05	2008-01-16	2008-01-16	ENSG00000143512	ENSG00000143512			25842	protein-coding gene	gene with protein product			"""KIAA1822-like"""	KIAA1822L		12975309	Standard	NM_024746		Approved	FLJ13840	uc001hnh.1	Q6UWX4	OTTHUMG00000037545	ENST00000343410.6:c.391G>T	1.37:g.222717462C>A	ENSP00000342118:p.Gly131Cys						p.G131C	NM_024746	NP_079022	Q6UWX4	HIPL2_HUMAN		GBM - Glioblastoma multiforme(131;0.0185)	2	449	-			131					Q6GU65|Q96BT4|Q96BU5|Q9H8A0	Missense_Mutation	SNP	ENST00000343410.6	37	c.391G>T	CCDS1530.2	.	.	.	.	.	.	.	.	.	.	C	16.72	3.201304	0.58234	.	.	ENSG00000143512	ENST00000343410	T	0.37584	1.19	5.59	5.59	0.84812	Folate receptor-like (1);	0.000000	0.85682	D	0.000000	T	0.68238	0.2979	M	0.88979	2.995	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.73269	-0.4036	10	0.59425	D	0.04	-20.8479	19.1778	0.93609	0.0:1.0:0.0:0.0	.	131	Q6UWX4	HIPL2_HUMAN	C	131	ENSP00000342118:G131C	ENSP00000342118:G131C	G	-	1	0	HHIPL2	220784085	1.000000	0.71417	0.366000	0.25914	0.013000	0.08279	7.390000	0.79816	2.606000	0.88127	0.591000	0.81541	GGC		0.582	HHIPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091499.2	NM_024746		77	179	1	0	4.21773e-46	0.00361	6.75507e-46	77	179				
TLR5	7100	broad.mit.edu	37	1	223283956	223283956	+	Silent	SNP	G	G	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr1:223283956G>A	ENST00000540964.1	-	4	2879	c.2418C>T	c.(2416-2418)atC>atT	p.I806I	TLR5_ENST00000342210.6_Silent_p.I806I			O60602	TLR5_HUMAN	toll-like receptor 5	806	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.		Missing (in 10% of the population; abolishes flagellin signaling; associated with resistance to SLEB1). {ECO:0000269|PubMed:14623910}.		cellular response to lipopolysaccharide (GO:0071222)|cellular response to mechanical stimulus (GO:0071260)|defense response to bacterium (GO:0042742)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|male gonad development (GO:0008584)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|regulation of cytokine secretion (GO:0050707)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor signaling pathway (GO:0002224)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-1 receptor binding (GO:0005149)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(131;0.0851)		CAAAGCCTCTGATGGATTGAT	0.458																																							uc001hnv.1		NA																	0				ovary(2)|lung(1)|skin(1)	4						c.(2416-2418)ATC>ATT		toll-like receptor 5 precursor							83.0	77.0	79.0					1																	223283956		2203	4300	6503	SO:0001819	synonymous_variant	7100				cellular response to mechanical stimulus|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of toll-like receptor signaling pathway	integral to membrane|plasma membrane	interleukin-1 receptor binding|transmembrane receptor activity	g.chr1:223283956G>A		CCDS31033.1	1q32.3-q42	2014-01-29			ENSG00000187554	ENSG00000187554			11851	protein-coding gene	gene with protein product	"""Toll/interleukin-1 receptor-like protein 3"""	603031	"""systemic lupus erythematosus susceptibility 1"""	SLEB1		9435236, 16027372	Standard	NM_003268		Approved	TIL3, FLJ10052, MGC126430, MGC126431	uc001hnw.2	O60602	OTTHUMG00000037937	ENST00000540964.1:c.2418C>T	1.37:g.223283956G>A						TLR5_uc001hnw.1_Silent_p.I806I	p.I806I	NM_003268	NP_003259	O60602	TLR5_HUMAN		GBM - Glioblastoma multiforme(131;0.0851)	4	2864	-			806		Missing (in 10% of the population; abolishes flagellin signaling; associated with resistance to SLEB1).	Cytoplasmic (Potential).|TIR.		B1AZ05|B3Y633|B9VJ63|D1CS80|D3DTB8|O15456|Q32MI2|Q32MI3	Silent	SNP	ENST00000540964.1	37	c.2418C>T	CCDS31033.1																																																																																				0.458	TLR5-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_003268		24	29	0	0	0	0.004656	0	24	29				
GJC2	57165	broad.mit.edu	37	1	228346354	228346354	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr1:228346354C>A	ENST00000366714.2	+	2	1070	c.895C>A	c.(895-897)Cgc>Agc	p.R299S		NM_020435.3	NP_065168.2	Q5T442	CXG2_HUMAN	gap junction protein, gamma 2, 47kDa	299					cell death (GO:0008219)|cell-cell signaling (GO:0007267)|response to toxic substance (GO:0009636)	connexon complex (GO:0005922)|integral component of membrane (GO:0016021)|myelin sheath (GO:0043209)	gap junction channel activity (GO:0005243)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7		Prostate(94;0.0405)				GGACGCGGTGCGCGGCCGCCG	0.771																																							uc001hsk.2		NA																	0					0						c.(895-897)CGC>AGC		gap junction protein, gamma 2, 47kDa							20.0	22.0	21.0					1																	228346354		2200	4284	6484	SO:0001583	missense	57165				cell death	connexon complex|integral to membrane		g.chr1:228346354C>A	AF014643	CCDS1569.1	1q41-q42	2009-01-02	2007-12-14	2007-11-06	ENSG00000198835	ENSG00000198835		"""Ion channels / Gap junction proteins (connexins)"""	17494	protein-coding gene	gene with protein product	"""connexin 47"""	608803	"""gap junction protein, alpha 12, 47kDa"""	GJA12		19056803	Standard	NM_020435		Approved	CX47, CX46.6, SPG44	uc001hsk.3	Q5T442	OTTHUMG00000039771	ENST00000366714.2:c.895C>A	1.37:g.228346354C>A	ENSP00000355675:p.Arg299Ser						p.R299S	NM_020435	NP_065168	Q5T442	CXG2_HUMAN			2	1070	+		Prostate(94;0.0405)	299			Cytoplasmic (Potential).		O43440|Q7Z7J2|Q8IWJ9	Missense_Mutation	SNP	ENST00000366714.2	37	c.895C>A	CCDS1569.1	.	.	.	.	.	.	.	.	.	.	C	12.60	1.987783	0.35036	.	.	ENSG00000198835	ENST00000366714	D	0.98280	-4.84	3.8	1.74	0.24563	.	0.331813	0.27500	N	0.019100	D	0.94165	0.8128	N	0.19112	0.55	0.54753	D	0.999987	B	0.20988	0.05	B	0.12837	0.008	D	0.90294	0.4325	10	0.39692	T	0.17	.	12.0392	0.53444	0.311:0.689:0.0:0.0	.	299	Q5T442	CXG2_HUMAN	S	299	ENSP00000355675:R299S	ENSP00000355675:R299S	R	+	1	0	GJC2	226412977	0.968000	0.33430	0.903000	0.35520	0.640000	0.38277	1.898000	0.39809	0.796000	0.33947	0.484000	0.47621	CGC		0.771	GJC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095985.1	NM_020435		9	4	1	0	0.000274275	0.004482	0.000295982	9	4				
RYR2	6262	broad.mit.edu	37	1	237777705	237777705	+	Silent	SNP	A	A	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr1:237777705A>T	ENST00000366574.2	+	37	5594	c.5277A>T	c.(5275-5277)ccA>ccT	p.P1759P	RYR2_ENST00000360064.6_Silent_p.P1757P|RYR2_ENST00000542537.1_Silent_p.P1743P	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1759	4 X approximate repeats.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CCCTCAGGCCACGGATGCAGT	0.512																																							uc001hyl.1		NA																	0				ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33						c.(5275-5277)CCA>CCT		cardiac muscle ryanodine receptor							74.0	75.0	75.0					1																	237777705		1996	4160	6156	SO:0001819	synonymous_variant	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237777705A>T	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.5277A>T	1.37:g.237777705A>T							p.P1759P	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		37	5397	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	1759			Cytoplasmic (By similarity).|4 X approximate repeats.		Q15411|Q546N8|Q5T3P2	Silent	SNP	ENST00000366574.2	37	c.5277A>T	CCDS55691.1																																																																																				0.512	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		13	29	0	0	0	0.004007	0	13	29				
RYR2	6262	broad.mit.edu	37	1	237817625	237817625	+	Missense_Mutation	SNP	G	G	C			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr1:237817625G>C	ENST00000366574.2	+	52	8193	c.7876G>C	c.(7876-7878)Ggg>Cgg	p.G2626R	RYR2_ENST00000360064.6_Missense_Mutation_p.G2624R|RYR2_ENST00000542537.1_Missense_Mutation_p.G2610R	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2626	4 X approximate repeats.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)	p.G2624W(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CCTGCCTGGAGGGTGGGGAAA	0.383																																							uc001hyl.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33						c.(7876-7878)GGG>CGG		cardiac muscle ryanodine receptor							92.0	92.0	92.0					1																	237817625		1845	4093	5938	SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237817625G>C	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.7876G>C	1.37:g.237817625G>C	ENSP00000355533:p.Gly2626Arg						p.G2626R	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		52	7996	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	2626			Modulator (Potential).|Cytoplasmic (By similarity).|4 X approximate repeats.		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.7876G>C	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.499041	0.85069	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	D;D;D	0.93426	-3.22;-3.22;-3.22	5.77	4.86	0.63082	.	0.000000	0.64402	D	0.000004	D	0.96546	0.8873	M	0.82056	2.57	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97130	0.9817	10	0.87932	D	0	-14.4797	14.8881	0.70584	0.0686:0.0:0.9314:0.0	.	2626	Q92736	RYR2_HUMAN	R	2626;2624;2610	ENSP00000355533:G2626R;ENSP00000353174:G2624R;ENSP00000443798:G2610R	ENSP00000353174:G2624R	G	+	1	0	RYR2	235884248	1.000000	0.71417	0.997000	0.53966	0.997000	0.91878	9.695000	0.98691	1.586000	0.49944	0.585000	0.79938	GGG		0.383	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		24	44	0	0	0	0.008361	0	24	44				
ZP4	57829	broad.mit.edu	37	1	238046086	238046086	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr1:238046086G>T	ENST00000366570.4	-	11	1609	c.1451C>A	c.(1450-1452)cCc>cAc	p.P484H	RP11-193H5.1_ENST00000450451.1_RNA	NM_021186.3	NP_067009.1	Q12836	ZP4_HUMAN	zona pellucida glycoprotein 4	484					acrosomal vesicle exocytosis (GO:0060478)|binding of sperm to zona pellucida (GO:0007339)|intracellular signal transduction (GO:0035556)|multicellular organism reproduction (GO:0032504)|negative regulation of binding of sperm to zona pellucida (GO:2000360)|positive regulation of acrosome reaction (GO:2000344)|positive regulation of humoral immune response (GO:0002922)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of T cell proliferation (GO:0042102)|protein kinase A signaling (GO:0010737)|protein kinase C signaling (GO:0070528)|single fertilization (GO:0007338)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	acrosin binding (GO:0032190)|signal transducer activity (GO:0004871)			breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	73	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			TAGAATCATGGGGCCTTTGCT	0.398																																					NSCLC(166;160 2029 11600 18754 19936)	NSCLC(166;160 2029 11600 18754 19936)	uc001hym.2		NA																	0				ovary(2)|skin(1)	3						c.(1450-1452)CCC>CAC		zona pellucida glycoprotein 4 preproprotein							130.0	129.0	130.0					1																	238046086		2203	4300	6503	SO:0001583	missense	57829				acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade	integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix	acrosin binding|receptor activity	g.chr1:238046086G>T	U05781	CCDS1615.1	1q43	2013-01-17			ENSG00000116996	ENSG00000116996		"""Zona pellucida glycoproteins"""	15770	protein-coding gene	gene with protein product		613514				7841460	Standard	NM_021186		Approved	ZPB	uc001hym.3	Q12836	OTTHUMG00000039586	ENST00000366570.4:c.1451C>A	1.37:g.238046086G>T	ENSP00000355529:p.Pro484His					LOC100130331_uc010pyc.1_Intron	p.P484H	NM_021186	NP_067009	Q12836	ZP4_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		11	1451	-	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	484			Extracellular (Potential).		B2RAE1	Missense_Mutation	SNP	ENST00000366570.4	37	c.1451C>A	CCDS1615.1	.	.	.	.	.	.	.	.	.	.	G	18.03	3.532843	0.64972	.	.	ENSG00000116996	ENST00000366570	D	0.83914	-1.78	4.09	4.09	0.47781	.	0.219612	0.38959	N	0.001513	D	0.86326	0.5906	L	0.49126	1.545	0.34208	D	0.674001	D	0.57571	0.98	P	0.62382	0.901	D	0.90431	0.4424	10	0.87932	D	0	-26.6785	12.0421	0.53458	0.0:0.0:1.0:0.0	.	484	Q12836	ZP4_HUMAN	H	484	ENSP00000355529:P484H	ENSP00000355529:P484H	P	-	2	0	ZP4	236112709	1.000000	0.71417	0.990000	0.47175	0.998000	0.95712	2.912000	0.48782	2.298000	0.77334	0.655000	0.94253	CCC		0.398	ZP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095476.1			23	53	1	0	2.41591e-17	0.004656	3.35303e-17	23	53				
ZP4	57829	broad.mit.edu	37	1	238048129	238048129	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr1:238048129C>A	ENST00000366570.4	-	10	1488	c.1330G>T	c.(1330-1332)Gtg>Ttg	p.V444L	RP11-193H5.1_ENST00000450451.1_RNA	NM_021186.3	NP_067009.1	Q12836	ZP4_HUMAN	zona pellucida glycoprotein 4	444	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.				acrosomal vesicle exocytosis (GO:0060478)|binding of sperm to zona pellucida (GO:0007339)|intracellular signal transduction (GO:0035556)|multicellular organism reproduction (GO:0032504)|negative regulation of binding of sperm to zona pellucida (GO:2000360)|positive regulation of acrosome reaction (GO:2000344)|positive regulation of humoral immune response (GO:0002922)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of T cell proliferation (GO:0042102)|protein kinase A signaling (GO:0010737)|protein kinase C signaling (GO:0070528)|single fertilization (GO:0007338)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	acrosin binding (GO:0032190)|signal transducer activity (GO:0004871)			breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	73	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			CAGACTGACACGCTGCAGTGC	0.507																																					NSCLC(166;160 2029 11600 18754 19936)	NSCLC(166;160 2029 11600 18754 19936)	uc001hym.2		NA																	0				ovary(2)|skin(1)	3						c.(1330-1332)GTG>TTG		zona pellucida glycoprotein 4 preproprotein							75.0	66.0	69.0					1																	238048129		2203	4300	6503	SO:0001583	missense	57829				acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade	integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix	acrosin binding|receptor activity	g.chr1:238048129C>A	U05781	CCDS1615.1	1q43	2013-01-17			ENSG00000116996	ENSG00000116996		"""Zona pellucida glycoproteins"""	15770	protein-coding gene	gene with protein product		613514				7841460	Standard	NM_021186		Approved	ZPB	uc001hym.3	Q12836	OTTHUMG00000039586	ENST00000366570.4:c.1330G>T	1.37:g.238048129C>A	ENSP00000355529:p.Val444Leu					LOC100130331_uc010pyc.1_Intron	p.V444L	NM_021186	NP_067009	Q12836	ZP4_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		10	1330	-	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	444			ZP.|Extracellular (Potential).		B2RAE1	Missense_Mutation	SNP	ENST00000366570.4	37	c.1330G>T	CCDS1615.1	.	.	.	.	.	.	.	.	.	.	C	16.27	3.076742	0.55753	.	.	ENSG00000116996	ENST00000366570	D	0.84070	-1.8	5.08	4.16	0.48862	Endoglin/CD105 antigen subgroup (1);Zona pellucida sperm-binding protein (3);	0.594923	0.17030	N	0.189742	D	0.85208	0.5644	M	0.62016	1.91	0.22762	N	0.998769	P	0.38048	0.616	P	0.47786	0.557	T	0.78272	-0.2268	10	0.66056	D	0.02	-0.209	11.4824	0.50333	0.0:0.9119:0.0:0.0881	.	444	Q12836	ZP4_HUMAN	L	444	ENSP00000355529:V444L	ENSP00000355529:V444L	V	-	1	0	ZP4	236114752	0.924000	0.31332	0.285000	0.24819	0.580000	0.36256	2.906000	0.48735	1.267000	0.44247	0.655000	0.94253	GTG		0.507	ZP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095476.1			14	29	1	0	1.33834e-09	0.007413	1.63683e-09	14	29				
FMN2	56776	broad.mit.edu	37	1	240255781	240255781	+	Silent	SNP	G	G	C			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr1:240255781G>C	ENST00000319653.9	+	1	602	c.372G>C	c.(370-372)tcG>tcC	p.S124S		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	124					cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			TCAGCCTCTCGGCGGACGAGG	0.692																																							uc010pyd.1		NA																	0		p.E124E(1)		ovary(4)|pancreas(3)|skin(3)|large_intestine(1)|central_nervous_system(1)	12						c.(370-372)TCG>TCC		formin 2							12.0	15.0	14.0					1																	240255781		2202	4297	6499	SO:0001819	synonymous_variant	56776				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding	g.chr1:240255781G>C	AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.372G>C	1.37:g.240255781G>C						FMN2_uc010pye.1_Silent_p.S124S	p.S124S	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0106)		1	597	+	Ovarian(103;0.127)	all_cancers(173;0.013)	124					B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Silent	SNP	ENST00000319653.9	37	c.372G>C	CCDS31069.2																																																																																				0.692	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2	XM_371352		4	1	0	0	0	0.000602	0	4	1				
OR2T12	127064	broad.mit.edu	37	1	248458101	248458102	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	GG	GG	-	-	GG	GG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr1:248458101_248458102GG>TT	ENST00000317996.1	-	1	778_779	c.779_780CC>AA	c.(778-780)cCC>cAA	p.P260Q		NM_001004692.1	NP_001004692.1	Q8NG77	O2T12_HUMAN	olfactory receptor, family 2, subfamily T, member 12	260						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(4)|kidney(3)|large_intestine(3)|lung(25)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0201)			TGTGGGATTTGGGTCTCATATA	0.485																																							uc010pzj.1		NA																	0				skin(2)|ovary(1)	3						c.(778-780)CCC>CAA		olfactory receptor, family 2, subfamily T,																																				SO:0001583	missense	127064				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248458101_248458102GG>TT	BK004485	CCDS31110.1	1q44	2012-08-09			ENSG00000177201	ENSG00000177201		"""GPCR / Class A : Olfactory receptors"""	19592	protein-coding gene	gene with protein product							Standard	NM_001004692		Approved		uc010pzj.2	Q8NG77	OTTHUMG00000040457	ENST00000317996.1:c.779_780delinsTT	1.37:g.248458101_248458102delinsTT	ENSP00000324583:p.Pro260Gln						p.P260Q	NM_001004692	NP_001004692	Q8NG77	O2T12_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0201)		1	779_780	-	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		260			Extracellular (Potential).			Missense_Mutation	DNP	ENST00000317996.1	37	c.779_780CC>AA	CCDS31110.1																																																																																				0.485	OR2T12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097353.1	NM_001004692		37	64	0	0	0	0.004672	0	37	64				
OR2T10	127069	broad.mit.edu	37	1	248756939	248756939	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr1:248756939G>T	ENST00000330500.2	-	1	161	c.131C>A	c.(130-132)aCa>aAa	p.T44K	Y_RNA_ENST00000364732.1_RNA	NM_001004693.1	NP_001004693.1	Q8NGZ9	O2T10_HUMAN	olfactory receptor, family 2, subfamily T, member 10	44						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(17)|skin(3)|upper_aerodigestive_tract(1)	26	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			AAGTATCAATGTAATATTCCA	0.413																																							uc010pzn.1		NA																	0				skin(1)	1						c.(130-132)ACA>AAA		olfactory receptor, family 2, subfamily T,							70.0	76.0	74.0					1																	248756939		2046	4235	6281	SO:0001583	missense	127069				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248756939G>T		CCDS31121.1	1q44	2012-08-09			ENSG00000184022	ENSG00000184022		"""GPCR / Class A : Olfactory receptors"""	19573	protein-coding gene	gene with protein product							Standard	NM_001004693		Approved		uc010pzn.2	Q8NGZ9	OTTHUMG00000040388	ENST00000330500.2:c.131C>A	1.37:g.248756939G>T	ENSP00000329210:p.Thr44Lys						p.T44K	NM_001004693	NP_001004693	Q8NGZ9	O2T10_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	131	-	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		44			Helical; Name=1; (Potential).		B2RNK7	Missense_Mutation	SNP	ENST00000330500.2	37	c.131C>A	CCDS31121.1	.	.	.	.	.	.	.	.	.	.	.	8.816	0.936498	0.18206	.	.	ENSG00000184022	ENST00000330500	T	0.19806	2.12	2.34	-4.69	0.03299	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.18841	0.0452	M	0.68593	2.085	0.09310	N	1	B	0.19583	0.037	B	0.24394	0.053	T	0.46105	-0.9215	9	0.72032	D	0.01	.	4.0288	0.09700	0.588:0.1766:0.2354:0.0	.	44	Q8NGZ9	O2T10_HUMAN	K	44	ENSP00000329210:T44K	ENSP00000329210:T44K	T	-	2	0	OR2T10	246823562	0.000000	0.05858	0.029000	0.17559	0.030000	0.12068	-3.223000	0.00551	-0.395000	0.07715	-0.762000	0.03455	ACA		0.413	OR2T10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097139.1	NM_001004693		19	63	1	0	5.26018e-13	0.001882	6.83959e-13	19	63				
LARP4B	23185	broad.mit.edu	37	10	860887	860887	+	Splice_Site	SNP	C	C	A	rs573099323		TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr10:860887C>A	ENST00000316157.3	-	15	1859	c.1819G>T	c.(1819-1821)Gat>Tat	p.D607Y	LARP4B_ENST00000469487.1_5'UTR	NM_015155.1	NP_055970.1	Q92615	LAR4B_HUMAN	La ribonucleoprotein domain family, member 4B	607					positive regulation of translation (GO:0045727)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleolus (GO:0005730)|polysomal ribosome (GO:0042788)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	38						AATACTCACTCGGGTAAATGA	0.517																																							uc001ifs.1		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(1819-1821)GAT>TAT		La ribonucleoprotein domain family, member 4B							73.0	72.0	72.0					10																	860887		2203	4300	6503	SO:0001630	splice_region_variant	23185						nucleotide binding|RNA binding	g.chr10:860887C>A	D86971	CCDS31131.1	10p15.3	2011-08-24	2009-06-09	2009-06-09	ENSG00000107929	ENSG00000107929		"""La ribonucleoprotein domain containing"""	28987	protein-coding gene	gene with protein product			"""KIAA0217"", ""La ribonucleoprotein domain family, member 5"""	KIAA0217, LARP5		9039502, 20573744	Standard	NM_015155		Approved		uc031ptb.1	Q92615	OTTHUMG00000017534	ENST00000316157.3:c.1820+1G>T	10.37:g.860887C>A							p.D607Y	NM_015155	NP_055970	Q92615	LAR4B_HUMAN			15	1860	-			607					A7MD20|Q5T3R3|Q5T3R4|Q5T3R5|Q68CY4	Missense_Mutation	SNP	ENST00000316157.3	37	c.1819G>T	CCDS31131.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.59|15.59	2.877629|2.877629	0.51801|0.51801	.|.	.|.	ENSG00000107929|ENSG00000107929	ENST00000316157|ENST00000448368	T|.	0.31247|.	1.5|.	6.0|6.0	6.0|6.0	0.97389|0.97389	.|.	0.288824|.	0.43579|.	D|.	0.000549|.	T|T	0.47040|0.47040	0.1424|0.1424	N|N	0.08118|0.08118	0|0	0.45330|0.45330	D|D	0.998329|0.998329	P|.	0.40398|.	0.716|.	B|.	0.37601|.	0.254|.	T|T	0.41448|0.41448	-0.9508|-0.9508	10|5	0.72032|.	D|.	0.01|.	-9.249|-9.249	18.2837|18.2837	0.90107|0.90107	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	607|.	Q92615|.	LAR4B_HUMAN|.	Y|L	607|172	ENSP00000326128:D607Y|.	ENSP00000326128:D607Y|.	D|R	-|-	1|2	0|0	LARP4B|LARP4B	850887|850887	0.998000|0.998000	0.40836|0.40836	0.983000|0.983000	0.44433|0.44433	0.040000|0.040000	0.13550|0.13550	4.867000|4.867000	0.63013|0.63013	2.849000|2.849000	0.98006|0.98006	0.609000|0.609000	0.83330|0.83330	GAT|CGA		0.517	LARP4B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046395.2	NM_015155	Missense_Mutation	17	42	1	0	7.87624e-14	0.00278	1.04293e-13	17	42				
AKR1E2	83592	broad.mit.edu	37	10	4877928	4877928	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr10:4877928G>T	ENST00000298375.7	+	4	457	c.386G>T	c.(385-387)cGa>cTa	p.R129L	AKR1E2_ENST00000334019.4_Missense_Mutation_p.R129L|AKR1E2_ENST00000525281.1_3'UTR|AKR1E2_ENST00000345253.5_Missense_Mutation_p.R129L|AKR1E2_ENST00000532248.1_Missense_Mutation_p.R129L	NM_001040177.2	NP_001035267.1	Q96JD6	AKCL2_HUMAN	aldo-keto reductase family 1, member E2	129						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	1,5-anhydro-D-fructose reductase activity (GO:0050571)			NS(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)	15						TCACATCCTCGAGTGCAGGAC	0.532																																					NSCLC(43;343 1097 20371 28813 45509)	NSCLC(43;343 1097 20371 28813 45509)	uc001ihi.2		NA																	0					0						c.(385-387)CGA>CTA		aldo-keto reductase family 1, member E2							119.0	90.0	100.0					10																	4877928		2203	4300	6503	SO:0001583	missense	83592					cytoplasm	1,5-anhydro-D-fructose reductase activity	g.chr10:4877928G>T	AB040820	CCDS31134.1, CCDS59210.1, CCDS59209.1	10p15.2	2009-09-09	2009-09-09	2009-09-09	ENSG00000165568	ENSG00000165568		"""Aldo-keto reductases"""	23437	protein-coding gene	gene with protein product			"""aldo-keto reductase family 1, member C-like 2"""	AKRDC1, AKR1CL2			Standard	NM_001271021		Approved	MGC10612	uc001ihi.4	Q96JD6	OTTHUMG00000017577	ENST00000298375.7:c.386G>T	10.37:g.4877928G>T	ENSP00000298375:p.Arg129Leu					AKR1E2_uc001ihl.1_RNA|AKR1E2_uc010qam.1_Missense_Mutation_p.R90L|AKR1E2_uc001ihh.1_Missense_Mutation_p.R129L|AKR1E2_uc009xhw.2_Missense_Mutation_p.R129L|AKR1E2_uc001ihj.2_RNA|AKR1E2_uc001ihk.2_Missense_Mutation_p.R129L	p.R129L	NM_001040177	NP_001035267	Q96JD6	AKCL2_HUMAN			4	501	+			129					Q86Z16|Q86Z17|Q86Z18|Q9BU71	Missense_Mutation	SNP	ENST00000298375.7	37	c.386G>T	CCDS31134.1	.	.	.	.	.	.	.	.	.	.	G	12.42	1.933581	0.34096	.	.	ENSG00000165568	ENST00000462718;ENST00000533295;ENST00000298375;ENST00000532248;ENST00000334019;ENST00000345253	T;T;T;T;T	0.31769	2.09;1.48;1.76;1.88;2.26	4.12	3.21	0.36854	NADP-dependent oxidoreductase domain (3);	0.054940	0.64402	D	0.000001	T	0.21103	0.0508	N	0.11756	0.17	0.22858	N	0.998646	P;B;B;B;B	0.34997	0.479;0.0;0.004;0.001;0.009	B;B;B;B;B	0.42959	0.403;0.001;0.015;0.049;0.005	T	0.12091	-1.0561	10	0.72032	D	0.01	.	7.6157	0.28156	0.1135:0.0:0.8865:0.0	.	90;129;129;129;129	B7Z7K2;Q96JD6-5;Q96JD6-2;Q96JD6;Q96JD6-3	.;.;.;AKCL2_HUMAN;.	L	25;133;129;129;129;129	ENSP00000435436:R133L;ENSP00000298375:R129L;ENSP00000432947:R129L;ENSP00000335034:R129L;ENSP00000335603:R129L	ENSP00000298375:R129L	R	+	2	0	AKR1E2	4867928	1.000000	0.71417	0.086000	0.20670	0.011000	0.07611	3.809000	0.55606	1.316000	0.45131	0.561000	0.74099	CGA		0.532	AKR1E2-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046520.4	NM_031436		33	37	1	0	1.30998e-17	0.005524	1.82565e-17	33	37				
FBXO18	84893	broad.mit.edu	37	10	5969492	5969492	+	Silent	SNP	G	G	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr10:5969492G>A	ENST00000362091.4	+	19	2932	c.2817G>A	c.(2815-2817)ttG>ttA	p.L939L	FBXO18_ENST00000379999.5_Silent_p.L990L|FBXO18_ENST00000397269.3_Silent_p.L443L	NM_001258453.1|NM_178150.2	NP_001245382.1|NP_835363.1	Q8NFZ0	FBX18_HUMAN	F-box protein, helicase, 18	939					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						AAAACATTTTGACTTTGGCTG	0.448																																							uc001iis.2		NA																	0				ovary(2)|skin(1)	3						c.(2815-2817)TTG>TTA		F-box only protein, helicase, 18 isoform 2							119.0	105.0	109.0					10																	5969492		2203	4300	6503	SO:0001819	synonymous_variant	84893				DNA repair	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding	g.chr10:5969492G>A	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.2817G>A	10.37:g.5969492G>A						FBXO18_uc001iir.2_Silent_p.L882L|FBXO18_uc009xig.2_Silent_p.L865L|FBXO18_uc001iit.2_Silent_p.L990L	p.L939L	NM_178150	NP_835363	Q8NFZ0	FBX18_HUMAN			19	2912	+			939					Q5JVB0|Q5JVB1|Q7Z4Q6|Q7Z4R0|Q8N1P5|Q8N586|Q96E82|Q96K67|Q96SW7|Q9UFB2	Silent	SNP	ENST00000362091.4	37	c.2817G>A	CCDS7072.1																																																																																				0.448	FBXO18-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046596.1	NM_032807		15	59	0	0	0	0.002299	0	15	59				
C1QL3	389941	broad.mit.edu	37	10	16563060	16563060	+	Missense_Mutation	SNP	A	A	G			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr10:16563060A>G	ENST00000298943.3	-	1	944	c.5T>C	c.(4-6)gTg>gCg	p.V2A		NM_001010908.1	NP_001010908.1	Q5VWW1	C1QL3_HUMAN	complement component 1, q subcomponent-like 3	2					regulation of synapse organization (GO:0050807)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)				breast(1)|endometrium(3)|kidney(1)|lung(4)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	13						CAGCAGCAGCACCATCACCAC	0.682																																							uc001ioj.1		NA																	0				ovary(1)	1						c.(4-6)GTG>GCG		complement component 1, q subcomponent-like 3							8.0	11.0	10.0					10																	16563060		2148	4221	6369	SO:0001583	missense	389941					collagen		g.chr10:16563060A>G		CCDS31156.1	10p13	2012-03-26			ENSG00000165985	ENSG00000165985			19359	protein-coding gene	gene with protein product		615227				21378161	Standard	NM_001010908		Approved	K100, C1ql, C1QTNF13, CTRP13	uc001ioj.1	Q5VWW1	OTTHUMG00000017738	ENST00000298943.3:c.5T>C	10.37:g.16563060A>G	ENSP00000298943:p.Val2Ala						p.V2A	NM_001010908	NP_001010908	Q5VWW1	C1QL3_HUMAN			1	945	-			2					A0PJY4|A0PJY5	Missense_Mutation	SNP	ENST00000298943.3	37	c.5T>C	CCDS31156.1	.	.	.	.	.	.	.	.	.	.	A	11.58	1.680575	0.29872	.	.	ENSG00000165985	ENST00000298943;ENST00000448557	D	0.85171	-1.95	3.44	3.44	0.39384	.	0.000000	0.64402	D	0.000004	D	0.84678	0.5525	L	0.48642	1.525	0.51233	D	0.999916	P	0.52463	0.953	P	0.53988	0.739	T	0.81212	-0.1035	10	0.21014	T	0.42	.	12.0587	0.53550	1.0:0.0:0.0:0.0	.	2	Q5VWW1	C1QL3_HUMAN	A	2	ENSP00000298943:V2A	ENSP00000298943:V2A	V	-	2	0	C1QL3	16603066	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	6.678000	0.74508	1.420000	0.47138	0.374000	0.22700	GTG		0.682	C1QL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047003.1	XM_372305		6	6	0	0	0	0.008291	0	6	6				
TRDMT1	1787	broad.mit.edu	37	10	17199678	17199678	+	Missense_Mutation	SNP	C	C	G			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr10:17199678C>G	ENST00000377799.3	-	8	696	c.649G>C	c.(649-651)Gat>Cat	p.D217H	TRDMT1_ENST00000452380.2_5'UTR|TRDMT1_ENST00000412821.3_Missense_Mutation_p.D193H|TRDMT1_ENST00000351358.4_Missense_Mutation_p.D171H|TRDMT1_ENST00000358282.7_3'UTR|TRDMT1_ENST00000457442.2_Missense_Mutation_p.D136H|TRDMT1_ENST00000488990.1_Missense_Mutation_p.D94H|TRDMT1_ENST00000377766.5_3'UTR	NM_004412.5	NP_004403.1	O14717	TRDMT_HUMAN	tRNA aspartic acid methyltransferase 1	217	SAM-dependent MTase C5-type. {ECO:0000255|PROSITE-ProRule:PRU01016}.				C-5 methylation of cytosine (GO:0090116)|response to amphetamine (GO:0001975)|tRNA methylation (GO:0030488)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA binding (GO:0003677)|RNA binding (GO:0003723)|tRNA methyltransferase activity (GO:0008175)			breast(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(4)|ovary(1)|prostate(1)	18					Pentamidine(DB00738)	ATGCTGCCATCAAAGCTAATA	0.343																																							uc001iop.2		NA																	0				ovary(1)	1						c.(649-651)GAT>CAT		tRNA aspartic acid methyltransferase 1 isoform							125.0	114.0	118.0					10																	17199678		2202	4300	6502	SO:0001583	missense	1787				tRNA processing	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|RNA binding	g.chr10:17199678C>G	AJ223333	CCDS7114.1	10p15.1	2006-10-23	2006-10-23	2006-10-23	ENSG00000107614	ENSG00000107614	2.1.1.37		2977	protein-coding gene	gene with protein product		602478	"""DNA (cytosine-5-)-methyltransferase 2"""	DNMT2		9425235, 9763678, 16424344	Standard	NM_004412		Approved	RNMT1	uc001iop.3	O14717	OTTHUMG00000017745	ENST00000377799.3:c.649G>C	10.37:g.17199678C>G	ENSP00000367030:p.Asp217His					TRDMT1_uc001ioq.2_Missense_Mutation_p.D193H|TRDMT1_uc001ior.2_Missense_Mutation_p.D171H|TRDMT1_uc001ios.2_Missense_Mutation_p.D146H|TRDMT1_uc009xjt.2_Missense_Mutation_p.D136H|TRDMT1_uc010qcc.1_Missense_Mutation_p.D146H|TRDMT1_uc010qcd.1_Missense_Mutation_p.D94H	p.D217H	NM_004412	NP_004403	O14717	TRDMT_HUMAN			8	697	-			217					B0YJ02|B0YJ03|B0YJ07|B0YJ08|O43669|Q86WW6	Missense_Mutation	SNP	ENST00000377799.3	37	c.649G>C	CCDS7114.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.98|16.98	3.270736|3.270736	0.59540|0.59540	.|.	.|.	ENSG00000107614|ENSG00000107614	ENST00000377799;ENST00000412821;ENST00000351358;ENST00000457442;ENST00000488990|ENST00000313936	T;T;T;T;T|.	0.64618|.	-0.11;-0.11;-0.11;-0.11;-0.11|.	5.41|5.41	4.51|4.51	0.55191|0.55191	.|.	0.904507|.	0.09827|.	N|.	0.750780|.	T|.	0.36635|.	0.0974|.	L|L	0.34521|0.34521	1.04|1.04	0.22842|0.22842	N|N	0.998665|0.998665	D;P;D;D;D;D|.	0.76494|.	0.999;0.952;0.991;0.983;0.99;0.994|.	D;P;P;P;P;P|.	0.64042|.	0.921;0.907;0.873;0.711;0.789;0.868|.	T|.	0.21280|.	-1.0250|.	10|.	0.46703|.	T|.	0.11|.	-4.133|-4.133	9.9353|9.9353	0.41548|0.41548	0.0:0.7888:0.1385:0.0727|0.0:0.7888:0.1385:0.0727	.|.	94;146;136;171;193;217|.	B7Z8H2;B7Z1Y7;E7EMI8;O14717-3;O14717-2;O14717|.	.;.;.;.;.;TRDMT_HUMAN|.	H|S	217;193;171;136;94|150	ENSP00000367030:D217H;ENSP00000409354:D193H;ENSP00000324328:D171H;ENSP00000412256:D136H;ENSP00000419625:D94H|.	ENSP00000324328:D171H|.	D|X	-|-	1|2	0|2	TRDMT1|TRDMT1	17239684|17239684	0.000000|0.000000	0.05858|0.05858	0.014000|0.014000	0.15608|0.15608	0.420000|0.420000	0.31355|0.31355	0.818000|0.818000	0.27295|0.27295	1.437000|1.437000	0.47472|0.47472	0.650000|0.650000	0.86243|0.86243	GAT|TGA		0.343	TRDMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047024.3	NM_004412		5	2	0	0	0	0.000602	0	5	2				
CACNB2	783	broad.mit.edu	37	10	18803262	18803263	+	Missense_Mutation	DNP	CC	CC	AT			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	CC	CC	-	-	CC	CC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr10:18803262_18803263CC>AT	ENST00000324631.7	+	7	828_829	c.768_769CC>AT	c.(766-771)ccCCac>ccATac	p.H257Y	CACNB2_ENST00000377328.1_Intron|CACNB2_ENST00000377331.2_Intron|CACNB2_ENST00000396576.2_Missense_Mutation_p.H202Y|RP11-499P20.2_ENST00000425669.1_RNA|CACNB2_ENST00000352115.6_Intron|CACNB2_ENST00000282343.8_Missense_Mutation_p.H229Y|CACNB2_ENST00000377329.4_Missense_Mutation_p.H203Y|CACNB2_ENST00000377319.3_Intron|CACNB2_ENST00000377315.4_Missense_Mutation_p.H209Y	NM_201593.2|NM_201596.2	NP_963887.2|NP_963890.2	Q08289	CACB2_HUMAN	calcium channel, voltage-dependent, beta 2 subunit	257					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)	TAACGTCACCCCACTCCAAAGA	0.45																																							uc001ipr.2		NA																	0				large_intestine(1)|central_nervous_system(1)|skin(1)	3						c.(766-771)CCCCAC>CCATAC		calcium channel, voltage-dependent, beta 2	Magnesium Sulfate(DB00653)|Verapamil(DB00661)																																			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.chr10:18803262_18803263CC>AT	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	Exception_encountered	10.37:g.18803262_18803263delinsAT	ENSP00000320025:p.His257Tyr					CACNB2_uc009xjz.1_Intron|CACNB2_uc001ips.2_Intron|CACNB2_uc001ipt.2_Intron|CACNB2_uc010qcl.1_Intron|CACNB2_uc001ipu.2_Missense_Mutation_p.H229Y|CACNB2_uc001ipv.2_Intron|CACNB2_uc009xka.1_Intron|CACNB2_uc001ipw.2_Intron|CACNB2_uc001ipx.2_Missense_Mutation_p.H202Y|CACNB2_uc009xkb.1_Intron|CACNB2_uc010qcm.1_Missense_Mutation_p.H203Y|CACNB2_uc001ipz.2_Intron|CACNB2_uc001ipy.2_Missense_Mutation_p.H203Y|CACNB2_uc010qcn.1_Intron|CACNB2_uc010qco.1_Intron|CACNB2_uc001iqa.2_Missense_Mutation_p.H209Y|NSUN6_uc001iqb.2_Intron	p.H257Y	NM_201596	NP_963890	Q08289	CACB2_HUMAN			7	828_829	+			257					A6PVM5|A6PVM7|A6PVM8|O00304|Q5QJ99|Q5QJA0|Q5VVG9|Q5VVH0|Q5VWV6|Q6TME1|Q6TME2|Q6TME3|Q8WX81|Q96NZ3|Q96NZ4|Q96NZ5|Q9BWU2|Q9HD32|Q9Y340|Q9Y341	Missense_Mutation	DNP	ENST00000324631.7	37	c.768_769CC>AT	CCDS7125.1																																																																																				0.450	CACNB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047072.2	NM_000724		15	41	0	0	0	0.004672	0	15	41				
MYO3A	53904	broad.mit.edu	37	10	26465695	26465695	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr10:26465695G>T	ENST00000265944.5	+	31	4525	c.4359G>T	c.(4357-4359)caG>caT	p.Q1453H	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	1453					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)	p.Q1453Q(1)		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						TTTTGTCACAGCAACTGAAGT	0.358																																							uc001isn.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(6)|stomach(3)|lung(3)|central_nervous_system(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	18						c.(4357-4359)CAG>CAT		myosin IIIA							81.0	78.0	79.0					10																	26465695		2203	4300	6503	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.chr10:26465695G>T	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.4359G>T	10.37:g.26465695G>T	ENSP00000265944:p.Gln1453His					MYO3A_uc009xkp.1_Intron|MYO3A_uc009xkq.1_Intron	p.Q1453H	NM_017433	NP_059129	Q8NEV4	MYO3A_HUMAN			31	4719	+			1453					Q4G0X2|Q5VZ28|Q8WX17|Q9NYS8	Missense_Mutation	SNP	ENST00000265944.5	37	c.4359G>T	CCDS7148.1	.	.	.	.	.	.	.	.	.	.	G	4.068	0.010345	0.07912	.	.	ENSG00000095777	ENST00000265944	T	0.74106	-0.81	5.91	1.9	0.25705	.	0.146215	0.64402	D	0.000009	T	0.47507	0.1449	N	0.14661	0.345	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.18808	-1.0325	10	0.19590	T	0.45	.	1.4613	0.02396	0.1743:0.1313:0.4379:0.2565	.	1453	Q8NEV4	MYO3A_HUMAN	H	1453	ENSP00000265944:Q1453H	ENSP00000265944:Q1453H	Q	+	3	2	MYO3A	26505701	1.000000	0.71417	0.996000	0.52242	0.995000	0.86356	2.741000	0.47426	0.853000	0.35312	-0.142000	0.14014	CAG		0.358	MYO3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047259.1	NM_017433		24	27	1	0	6.38683e-12	0.008361	8.1677e-12	24	27				
ASAH2	56624	broad.mit.edu	37	10	52005175	52005175	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr10:52005175G>T	ENST00000395526.4	-	2	166	c.167C>A	c.(166-168)cCa>cAa	p.P56Q	ASAH2_ENST00000329428.6_Missense_Mutation_p.P37Q|ASAH2_ENST00000447815.1_Missense_Mutation_p.P56Q	NM_019893.2	NP_063946.2	Q9NR71	ASAH2_HUMAN	N-acylsphingosine amidohydrolase (non-lysosomal ceramidase) 2	56					apoptotic process (GO:0006915)|ceramide metabolic process (GO:0006672)|glycosphingolipid metabolic process (GO:0006687)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	ceramidase activity (GO:0017040)			large_intestine(1)|lung(9)|urinary_tract(1)	11						CTGGGTGGCTGGAGGGCTTTG	0.488																																							uc001jjd.2		NA																	0					0						c.(166-168)CCA>CAA		N-acylsphingosine amidohydrolase 2 isoform a							53.0	62.0	59.0					10																	52005175		2203	4300	6503	SO:0001583	missense	56624				apoptosis|ceramide metabolic process|signal transduction	integral to membrane|mitochondrion|plasma membrane	ceramidase activity	g.chr10:52005175G>T	AF250847	CCDS7239.2, CCDS44398.1	10q11.23	2008-08-11			ENSG00000188611	ENSG00000188611			18860	protein-coding gene	gene with protein product		611202				10781606	Standard	NM_019893		Approved		uc001jjd.3	Q9NR71	OTTHUMG00000018223	ENST00000395526.4:c.167C>A	10.37:g.52005175G>T	ENSP00000378897:p.Pro56Gln					ASAH2_uc009xos.2_Missense_Mutation_p.P56Q	p.P56Q	NM_019893	NP_063946	Q9NR71	ASAH2_HUMAN			2	167	-			56			Lumenal (Potential).		Q3KNU1|Q5SNT7|Q5SZP6|Q5SZP7|Q5T1D5|Q71ME6	Missense_Mutation	SNP	ENST00000395526.4	37	c.167C>A	CCDS7239.2	.	.	.	.	.	.	.	.	.	.	G	4.469	0.086935	0.08583	.	.	ENSG00000188611	ENST00000395526;ENST00000447815;ENST00000329428	T;T;T	0.28255	1.62;1.63;1.63	4.35	-2.65	0.06095	.	1.812370	0.02718	N	0.113686	T	0.18467	0.0443	N	0.22421	0.69	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.06405	0.002;0.001	T	0.12578	-1.0542	10	0.28530	T	0.3	.	3.7149	0.08434	0.4306:0.0:0.2909:0.2786	.	56;56	Q9NR71-2;Q9NR71	.;ASAH2_HUMAN	Q	56;56;37	ENSP00000378897:P56Q;ENSP00000388206:P56Q;ENSP00000329886:P37Q	ENSP00000329886:P37Q	P	-	2	0	ASAH2	51675181	0.002000	0.14202	0.000000	0.03702	0.000000	0.00434	-0.445000	0.06845	-0.365000	0.08076	-0.136000	0.14681	CCA		0.488	ASAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048061.3	NM_019893		5	13	1	0	0.000602214	0.000602	0.00064368	5	13				
IPMK	253430	broad.mit.edu	37	10	59956230	59956230	+	Silent	SNP	T	T	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr10:59956230T>A	ENST00000373935.3	-	6	1180	c.858A>T	c.(856-858)acA>acT	p.T286T		NM_152230.4	NP_689416.1	Q8NFU5	IPMK_HUMAN	inositol polyphosphate multikinase	286					inositol phosphate biosynthetic process (GO:0032958)|inositol phosphate metabolic process (GO:0043647)|neural tube formation (GO:0001841)|small molecule metabolic process (GO:0044281)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|inositol tetrakisphosphate 3-kinase activity (GO:0000824)|inositol-1,4,5-trisphosphate 3-kinase activity (GO:0008440)|inositol-1,4,5-trisphosphate 6-kinase activity (GO:0000823)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)	22						CTAGTACTTCTGTGTCTGACA	0.378																																							uc001jkb.2		NA																	0				ovary(1)	1						c.(856-858)ACA>ACT		inositol polyphosphate multikinase							74.0	74.0	74.0					10																	59956230		2203	4300	6503	SO:0001819	synonymous_variant	253430					nucleus	ATP binding|inositol trisphosphate 6-kinase activity	g.chr10:59956230T>A	AF432853	CCDS7250.1	10q21.1	2010-11-29		2004-07-22	ENSG00000151151	ENSG00000151151			20739	protein-coding gene	gene with protein product		609851				12223481, 12027805	Standard	NM_152230		Approved		uc001jkb.3	Q8NFU5	OTTHUMG00000018268	ENST00000373935.3:c.858A>T	10.37:g.59956230T>A							p.T286T	NM_152230	NP_689416	Q8NFU5	IPMK_HUMAN			6	1181	-			286						Silent	SNP	ENST00000373935.3	37	c.858A>T	CCDS7250.1																																																																																				0.378	IPMK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048142.1	NM_152230		12	19	0	0	0	0.001368	0	12	19				
TET1	80312	broad.mit.edu	37	10	70405772	70405772	+	Missense_Mutation	SNP	G	G	C			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr10:70405772G>C	ENST00000373644.4	+	4	3495	c.3286G>C	c.(3286-3288)Gag>Cag	p.E1096Q		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	1096					chromatin modification (GO:0016568)|DNA demethylation (GO:0080111)|inner cell mass cell differentiation (GO:0001826)|negative regulation of methylation-dependent chromatin silencing (GO:0090310)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)|regulation of DNA methylation (GO:0044030)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	iron ion binding (GO:0005506)|methylcytosine dioxygenase activity (GO:0070579)|structure-specific DNA binding (GO:0043566)|zinc ion binding (GO:0008270)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						TATAAAACCAGAGGACAAAAA	0.378																																							uc001jok.3		NA																	0				ovary(5)|lung(2)|prostate(1)|breast(1)	9						c.(3286-3288)GAG>CAG		CXXC finger 6							73.0	68.0	70.0					10																	70405772		2203	4300	6503	SO:0001583	missense	80312				DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding	g.chr10:70405772G>C	AF430147	CCDS7281.1	10q21	2014-02-18	2011-09-30	2008-03-12	ENSG00000138336	ENSG00000138336			29484	protein-coding gene	gene with protein product	"""leukemia-associated protein with a CXXC domain"", ""ten-eleven translocation-1"""	607790	"""CXXC zinc finger 6"", ""tet oncogene 1"""	CXXC6		12124344, 12646957	Standard	NM_030625		Approved	LCX, KIAA1676, bA119F7.1	uc001jok.4	Q8NFU7	OTTHUMG00000018359	ENST00000373644.4:c.3286G>C	10.37:g.70405772G>C	ENSP00000362748:p.Glu1096Gln						p.E1096Q	NM_030625	NP_085128	Q8NFU7	TET1_HUMAN			4	3791	+			1096					Q5VUP7|Q7Z6B6|Q8TCR1|Q9C0I7	Missense_Mutation	SNP	ENST00000373644.4	37	c.3286G>C	CCDS7281.1	.	.	.	.	.	.	.	.	.	.	G	13.11	2.139851	0.37728	.	.	ENSG00000138336	ENST00000373644	T	0.09911	2.93	5.7	5.7	0.88788	.	1.251260	0.05628	N	0.581138	T	0.21387	0.0515	N	0.24115	0.695	0.36499	D	0.868915	D	0.63880	0.993	P	0.55713	0.782	T	0.14420	-1.0473	10	0.51188	T	0.08	.	18.0106	0.89222	0.0:0.0:1.0:0.0	.	1096	Q8NFU7	TET1_HUMAN	Q	1096	ENSP00000362748:E1096Q	ENSP00000362748:E1096Q	E	+	1	0	TET1	70075778	1.000000	0.71417	0.754000	0.31244	0.049000	0.14656	5.633000	0.67825	2.702000	0.92279	0.563000	0.77884	GAG		0.378	TET1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048354.1	NM_030625		6	49	0	0	0	0.001984	0	6	49				
KAT6B	23522	broad.mit.edu	37	10	76780503	76780503	+	Silent	SNP	G	G	C	rs140113295	byFrequency	TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr10:76780503G>C	ENST00000287239.4	+	14	3282	c.2793G>C	c.(2791-2793)acG>acC	p.T931T	KAT6B_ENST00000372714.1_Silent_p.T639T|RP11-77G23.2_ENST00000413431.1_RNA|KAT6B_ENST00000490365.1_3'UTR|RP11-77G23.5_ENST00000436608.1_RNA|KAT6B_ENST00000372724.1_Silent_p.T639T|KAT6B_ENST00000372711.1_Silent_p.T748T|KAT6B_ENST00000372725.1_Silent_p.T639T	NM_001256468.1|NM_012330.3	NP_001243397.1|NP_036462.2	Q8WYB5	KAT6B_HUMAN	K(lysine) acetyltransferase 6B	931	Catalytic.|Interaction with BRPF1.|MYST-type HAT.			TGM -> RHV (in Ref. 2; AAL56647). {ECO:0000305}.	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)										GCAGAGCGACGGGCATGTGCC	0.567																																							uc001jwn.1		NA								T					CREBBP		AML		0				central_nervous_system(5)|ovary(4)|lung(3)|breast(2)|skin(1)|prostate(1)	16						c.(2791-2793)ACG>ACC		MYST histone acetyltransferase (monocytic							115.0	93.0	100.0					10																	76780503		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.chr10:76780503G>C	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.2793G>C	10.37:g.76780503G>C						MYST4_uc001jwm.1_Silent_p.T639T|MYST4_uc001jwo.1_Silent_p.T639T|MYST4_uc001jwp.1_Silent_p.T748T	p.T931T	NM_012330	NP_036462	Q8WYB5	MYST4_HUMAN			14	3286	+	all_cancers(46;0.0347)|all_epithelial(25;0.00236)|Prostate(51;0.0112)|Ovarian(15;0.0964)		931	TGM -> RHV (in Ref. 2; AAL56647).		Catalytic.|Interaction with BRPF1.		O15087|Q86Y05|Q8WU81|Q9UKW2|Q9UKW3|Q9UKX0	Silent	SNP	ENST00000287239.4	37	c.2793G>C	CCDS7345.1																																																																																				0.567	KAT6B-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048771.1	NM_012330		10	51	0	0	0	0.00245	0	10	51				
KCNMA1	3778	broad.mit.edu	37	10	78651358	78651358	+	Silent	SNP	C	C	T	rs189703190		TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr10:78651358C>T	ENST00000286628.8	-	26	3266	c.3267G>A	c.(3265-3267)ccG>ccA	p.P1089P	KCNMA1_ENST00000406533.3_Silent_p.P1093P|RP11-443A13.5_ENST00000458661.2_RNA|KCNMA1_ENST00000404857.1_Silent_p.P1072P|RP11-443A13.5_ENST00000609102.1_RNA|KCNMA1_ENST00000372443.1_Silent_p.P1058P|KCNMA1_ENST00000286627.5_Silent_p.P1031P|KCNMA1_ENST00000372440.1_Silent_p.P1031P|KCNMA1_ENST00000404771.3_Silent_p.P1089P|RP11-443A13.5_ENST00000429850.2_RNA|KCNMA1_ENST00000354353.5_Silent_p.P1092P|RP11-443A13.5_ENST00000595702.1_RNA	NM_001161352.1	NP_001154824.1	Q12791	KCMA1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, alpha member 1	1089					blood coagulation (GO:0007596)|cellular potassium ion homeostasis (GO:0030007)|micturition (GO:0060073)|negative regulation of cell volume (GO:0045794)|positive regulation of apoptotic process (GO:0043065)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|response to calcium ion (GO:0051592)|response to carbon monoxide (GO:0034465)|response to hypoxia (GO:0001666)|response to osmotic stress (GO:0006970)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)	apical plasma membrane (GO:0016324)|caveola (GO:0005901)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	actin binding (GO:0003779)|calcium-activated potassium channel activity (GO:0015269)|large conductance calcium-activated potassium channel activity (GO:0060072)|metal ion binding (GO:0046872)|voltage-gated potassium channel activity (GO:0005249)			breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Chlorzoxazone(DB00356)|Cromoglicic acid(DB01003)|Diazoxide(DB01119)|Halothane(DB01159)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Miconazole(DB01110)|Procaine(DB00721)	CCAGTGTCTGCGGGGTGCTGT	0.632													C|||	1	0.000199681	0.0	0.0	5008	,	,		16385	0.0		0.0	False		,,,				2504	0.001						uc001jxn.2		NA																	0				pancreas(2)|ovary(1)	3						c.(3265-3267)CCG>CCA		large conductance calcium-activated potassium	Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)	C	,,,	0,4406		0,0,2203	46.0	44.0	45.0		3105,3267,3216,3093	0.3	1.0	10		45	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	KCNMA1	NM_001014797.2,NM_001161352.1,NM_001161353.1,NM_002247.3	,,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,,	1035/1183,1089/1237,1072/1220,1031/1179	78651358	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	3778				cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition	apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex	actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity	g.chr10:78651358C>T	U11717	CCDS7352.1, CCDS60569.1, CCDS60571.1, CCDS60572.1, CCDS73156.1	10q22	2012-07-05			ENSG00000156113	ENSG00000156113		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	6284	protein-coding gene	gene with protein product	"""BK channel alpha subunit"""	600150		SLO		7987297, 16382103	Standard	NM_002247		Approved	KCa1.1, mSLO1	uc001jxn.3	Q12791	OTTHUMG00000018543	ENST00000286628.8:c.3267G>A	10.37:g.78651358C>T						KCNMA1_uc001jxj.2_Silent_p.P1035P|KCNMA1_uc001jxk.1_Silent_p.P707P|KCNMA1_uc009xrt.1_Silent_p.P880P|KCNMA1_uc001jxl.1_Silent_p.P714P|KCNMA1_uc001jxo.2_Silent_p.P1072P|KCNMA1_uc001jxm.2_Silent_p.P1031P|KCNMA1_uc001jxq.2_Silent_p.P1061P|uc001jxp.2_Intron	p.P1089P	NM_001161352	NP_001154824	Q12791	KCMA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		26	3444	-	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		1089			Cytoplasmic (Potential).		F8WA96|Q12886|Q12917|Q12921|Q12960|Q13150|Q5JQ23|Q5SQR9|Q96LG8|Q9UBB0|Q9UCX0|Q9UQK6	Silent	SNP	ENST00000286628.8	37	c.3267G>A		1|1	4.578754578754579E-4|4.578754578754579E-4	1|1	0.0020325203252032522|0.0020325203252032522	0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	C|C	4.789|4.789	0.146653|0.146653	0.09134|0.09134	0.0|0.0	1.16E-4|1.16E-4	ENSG00000156113|ENSG00000156113	ENST00000372421;ENST00000434208|ENST00000372403	.|.	.|.	.|.	5.61|5.61	0.294|0.294	0.15747|0.15747	.|.	.|.	.|.	.|.	.|.	T|T	0.42854|0.42854	0.1221|0.1221	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.21724|0.21724	-1.0237|-1.0237	4|4	.|.	.|.	.|.	-15.6383|-15.6383	2.561|2.561	0.04771|0.04771	0.1318:0.2419:0.4038:0.2225|0.1318:0.2419:0.4038:0.2225	.|.	.|.	.|.	.|.	T|H	1020;739|982	.|.	.|.	A|R	-|-	1|2	0|0	KCNMA1|KCNMA1	78321364|78321364	0.993000|0.993000	0.37304|0.37304	0.999000|0.999000	0.59377|0.59377	0.454000|0.454000	0.32378|0.32378	0.314000|0.314000	0.19432|0.19432	0.033000|0.033000	0.15463|0.15463	-1.075000|-1.075000	0.02238|0.02238	GCA|CGC		0.632	KCNMA1-009	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000048885.3	NM_002247		7	33	0	0	0	0.00308	0	7	33				
KCNMA1	3778	broad.mit.edu	37	10	78674762	78674762	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr10:78674762G>T	ENST00000286628.8	-	24	2947	c.2948C>A	c.(2947-2949)cCa>cAa	p.P983Q	KCNMA1_ENST00000406533.3_Missense_Mutation_p.P987Q|RP11-443A13.5_ENST00000458661.2_RNA|KCNMA1_ENST00000404857.1_Missense_Mutation_p.P966Q|RP11-443A13.5_ENST00000426234.1_RNA|KCNMA1_ENST00000372443.1_Missense_Mutation_p.P925Q|KCNMA1_ENST00000286627.5_Missense_Mutation_p.P925Q|KCNMA1_ENST00000372440.1_Missense_Mutation_p.P925Q|KCNMA1_ENST00000404771.3_Missense_Mutation_p.P983Q|KCNMA1_ENST00000354353.5_Missense_Mutation_p.P986Q|RP11-443A13.5_ENST00000600782.1_RNA	NM_001161352.1	NP_001154824.1	Q12791	KCMA1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, alpha member 1	983					blood coagulation (GO:0007596)|cellular potassium ion homeostasis (GO:0030007)|micturition (GO:0060073)|negative regulation of cell volume (GO:0045794)|positive regulation of apoptotic process (GO:0043065)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|response to calcium ion (GO:0051592)|response to carbon monoxide (GO:0034465)|response to hypoxia (GO:0001666)|response to osmotic stress (GO:0006970)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)	apical plasma membrane (GO:0016324)|caveola (GO:0005901)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	actin binding (GO:0003779)|calcium-activated potassium channel activity (GO:0015269)|large conductance calcium-activated potassium channel activity (GO:0060072)|metal ion binding (GO:0046872)|voltage-gated potassium channel activity (GO:0005249)			breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Chlorzoxazone(DB00356)|Cromoglicic acid(DB01003)|Diazoxide(DB01119)|Halothane(DB01159)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Miconazole(DB01110)|Procaine(DB00721)	CCCGTGCACTGGGCTGTTATC	0.478																																							uc001jxn.2		NA																	0				pancreas(2)|ovary(1)	3						c.(2947-2949)CCA>CAA		large conductance calcium-activated potassium	Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)						249.0	224.0	233.0					10																	78674762		2203	4300	6503	SO:0001583	missense	3778				cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition	apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex	actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity	g.chr10:78674762G>T	U11717	CCDS7352.1, CCDS60569.1, CCDS60571.1, CCDS60572.1, CCDS73156.1	10q22	2012-07-05			ENSG00000156113	ENSG00000156113		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	6284	protein-coding gene	gene with protein product	"""BK channel alpha subunit"""	600150		SLO		7987297, 16382103	Standard	NM_002247		Approved	KCa1.1, mSLO1	uc001jxn.3	Q12791	OTTHUMG00000018543	ENST00000286628.8:c.2948C>A	10.37:g.78674762G>T	ENSP00000286628:p.Pro983Gln					KCNMA1_uc001jxj.2_Missense_Mutation_p.P929Q|KCNMA1_uc001jxk.1_Missense_Mutation_p.P601Q|KCNMA1_uc009xrt.1_Missense_Mutation_p.P774Q|KCNMA1_uc001jxl.1_Missense_Mutation_p.P608Q|KCNMA1_uc001jxo.2_Missense_Mutation_p.P966Q|KCNMA1_uc001jxm.2_Missense_Mutation_p.P925Q|KCNMA1_uc001jxq.2_Missense_Mutation_p.P928Q	p.P983Q	NM_001161352	NP_001154824	Q12791	KCMA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		24	3125	-	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		983			Cytoplasmic (Potential).		F8WA96|Q12886|Q12917|Q12921|Q12960|Q13150|Q5JQ23|Q5SQR9|Q96LG8|Q9UBB0|Q9UCX0|Q9UQK6	Missense_Mutation	SNP	ENST00000286628.8	37	c.2948C>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	32|32	5.148489|5.148489	0.94603|0.94603	.|.	.|.	ENSG00000156113|ENSG00000156113	ENST00000372440;ENST00000372408;ENST00000372437;ENST00000457953;ENST00000404771;ENST00000372443;ENST00000286627;ENST00000286628;ENST00000406533;ENST00000354353;ENST00000404857;ENST00000412708|ENST00000372403	T;T;T;T;T;T;T;T;T|.	0.56776|.	0.44;0.44;0.44;0.44;0.44;0.44;0.44;0.44;0.44|.	5.96|5.96	5.96|5.96	0.96718|0.96718	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.74023|0.74023	0.3662|0.3662	L|L	0.58810|0.58810	1.83|1.83	0.80722|0.80722	D|D	1|1	D;P;D;D;P;P;D;P|.	0.89917|.	1.0;0.93;0.978;0.996;0.94;0.864;0.995;0.813|.	D;P;P;D;P;P;D;P|.	0.97110|.	1.0;0.658;0.897;0.943;0.749;0.67;0.947;0.565|.	T|T	0.69060|0.69060	-0.5245|-0.5245	10|5	0.59425|.	D|.	0.04|.	-6.7526|-6.7526	20.4116|20.4116	0.99017|0.99017	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	954;928;966;983;925;736;986;925|.	Q12791-4;B7ZMF5;Q12791-2;Q12791;Q12791-5;C9JFZ9;F8WA96;Q5SVJ7|.	.;.;.;KCMA1_HUMAN;.;.;.;.|.	Q|K	925;862;918;957;920;925;925;957;987;986;966;736|876	ENSP00000361517:P925Q;ENSP00000361485:P862Q;ENSP00000361514:P918Q;ENSP00000396608:P957Q;ENSP00000361520:P925Q;ENSP00000286627:P925Q;ENSP00000385552:P987Q;ENSP00000346321:P986Q;ENSP00000385806:P966Q|.	ENSP00000286627:P925Q|.	P|Q	-|-	2|1	0|0	KCNMA1|KCNMA1	78344768|78344768	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.984000|0.984000	0.73092|0.73092	9.416000|9.416000	0.97383|0.97383	2.827000|2.827000	0.97445|0.97445	0.655000|0.655000	0.94253|0.94253	CCA|CAG		0.478	KCNMA1-009	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000048885.3	NM_002247		127	70	1	0	3.69866e-55	0.00361	6.029e-55	127	70				
CCSER2	54462	broad.mit.edu	37	10	86259650	86259650	+	Missense_Mutation	SNP	C	C	G			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr10:86259650C>G	ENST00000224756.8	+	10	2530	c.2345C>G	c.(2344-2346)tCc>tGc	p.S782C	CCSER2_ENST00000494144.1_Intron|CCSER2_ENST00000543283.1_Missense_Mutation_p.S209C|CCSER2_ENST00000372088.2_Intron	NM_001284243.1|NM_018999.2	NP_001271172.1|NP_061872.2	Q9H7U1	CCSE2_HUMAN	coiled-coil serine-rich protein 2	782					microtubule bundle formation (GO:0001578)	microtubule cytoskeleton (GO:0015630)		p.S782F(1)									TCTGCTCCCTCCTTCTCTCCT	0.507																																							uc001kdh.1		NA																	1	Substitution - Missense(1)		large_intestine(1)	ovary(3)|skin(1)	4						c.(2344-2346)TCC>TGC		granule cell antiserum positive 14							133.0	118.0	123.0					10																	86259650		2203	4300	6503	SO:0001583	missense	54462							g.chr10:86259650C>G		CCDS31235.1, CCDS60582.1, CCDS60583.1, CCDS73159.1	10q23.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000107771	ENSG00000107771			29197	protein-coding gene	gene with protein product			"""KIAA1128"", ""family with sequence similarity 190, member B"""	KIAA1128, FAM190B		10574461	Standard	XM_005269905		Approved		uc001kdh.1	Q9H7U1	OTTHUMG00000018641	ENST00000224756.8:c.2345C>G	10.37:g.86259650C>G	ENSP00000224756:p.Ser782Cys					FAM190B_uc010qmd.1_Intron|FAM190B_uc001kdi.1_Intron|FAM190B_uc010qme.1_Missense_Mutation_p.S209C	p.S782C	NM_018999	NP_061872	Q9H7U1	F190B_HUMAN			10	2539	+			782					B4DFY4|B4DQU9|B7WPE8|D3DWE2|Q8N6E9|Q9H2S0|Q9ULU1	Missense_Mutation	SNP	ENST00000224756.8	37	c.2345C>G	CCDS31235.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.113486	0.77210	.	.	ENSG00000107771	ENST00000224756;ENST00000543283	T;T	0.25912	2.08;1.77	5.96	5.96	0.96718	.	0.076096	0.56097	D	0.000023	T	0.49847	0.1581	L	0.57536	1.79	0.48762	D	0.9997	D	0.89917	1.0	D	0.85130	0.997	T	0.41270	-0.9518	10	0.72032	D	0.01	.	17.9083	0.88926	0.0:1.0:0.0:0.0	.	782	Q9H7U1	F190B_HUMAN	C	782;209	ENSP00000224756:S782C;ENSP00000439944:S209C	ENSP00000224756:S782C	S	+	2	0	FAM190B	86249630	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.227000	0.58612	2.833000	0.97629	0.555000	0.69702	TCC		0.507	CCSER2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049132.2	NM_018999		11	87	0	0	0	0.001368	0	11	87				
OPN4	94233	broad.mit.edu	37	10	88418396	88418396	+	Missense_Mutation	SNP	G	G	A	rs368062538		TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr10:88418396G>A	ENST00000241891.5	+	4	747	c.580G>A	c.(580-582)Gtt>Att	p.V194I	OPN4_ENST00000372071.2_Missense_Mutation_p.V205I	NM_033282.3	NP_150598.1	Q9UHM6	OPN4_HUMAN	opsin 4	194					phototransduction (GO:0007602)|protein-chromophore linkage (GO:0018298)|regulation of circadian rhythm (GO:0042752)|rhodopsin mediated signaling pathway (GO:0016056)|rhythmic process (GO:0048511)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	11-cis retinal binding (GO:0005502)|G-protein coupled photoreceptor activity (GO:0008020)			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(5)|ovary(3)	18						CCTGCTGGGCGTTTGGCTCTA	0.647													G|||	1	0.000199681	0.0	0.0014	5008	,	,		19596	0.0		0.0	False		,,,				2504	0.0						uc001kdq.2		NA																	0				ovary(1)	1						c.(580-582)GTT>ATT		opsin 4 isoform 1		G	ILE/VAL,ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	74.0	69.0	71.0		580,613	3.3	0.8	10		71	0,8600		0,0,4300	no	missense,missense	OPN4	NM_033282.3,NM_001030015.2	29,29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign,benign	194/479,205/490	88418396	1,13005	2203	4300	6503	SO:0001583	missense	94233				phototransduction|protein-chromophore linkage|regulation of circadian rhythm|rhythmic process|visual perception	integral to membrane|plasma membrane	11-cis retinal binding|G-protein coupled photoreceptor activity	g.chr10:88418396G>A	AF147788	CCDS7376.1, CCDS31237.1	10q22	2012-08-08	2008-04-16		ENSG00000122375	ENSG00000122375		"""GPCR / Class A : Opsin receptors"""	14449	protein-coding gene	gene with protein product	"""melanopsin"""	606665	"""opsin 4 (melanopsin)"""			10632589	Standard	NM_001030015		Approved	MOP, melanopsin	uc001kdp.3	Q9UHM6	OTTHUMG00000018654	ENST00000241891.5:c.580G>A	10.37:g.88418396G>A	ENSP00000241891:p.Val194Ile					OPN4_uc001kdp.2_Missense_Mutation_p.V205I|OPN4_uc010qmk.1_Missense_Mutation_p.V205I|OPN4_uc009xsx.1_5'Flank	p.V194I	NM_033282	NP_150598	Q9UHM6	OPN4_HUMAN			4	807	+			194			Helical; Name=4; (Potential).		B7ZLB3|Q14D01|Q2PP22|Q8NGQ9	Missense_Mutation	SNP	ENST00000241891.5	37	c.580G>A	CCDS7376.1	.	.	.	.	.	.	.	.	.	.	G	15.61	2.884347	0.51908	2.27E-4	0.0	ENSG00000122375	ENST00000372071;ENST00000241891;ENST00000443292	T;T;T	0.73152	-0.72;-0.72;-0.72	5.22	3.29	0.37713	GPCR, rhodopsin-like superfamily (1);	0.220957	0.38217	N	0.001773	T	0.56848	0.2013	L	0.35288	1.05	0.39913	D	0.974053	B;B;B	0.27951	0.195;0.115;0.082	B;B;B	0.29524	0.103;0.072;0.014	T	0.49224	-0.8962	10	0.25106	T	0.35	.	10.0691	0.42322	0.1727:0.0:0.8273:0.0	.	205;194;205	C9JWU6;Q9UHM6;Q9UHM6-2	.;OPN4_HUMAN;.	I	205;194;205	ENSP00000361141:V205I;ENSP00000241891:V194I;ENSP00000393132:V205I	ENSP00000241891:V194I	V	+	1	0	OPN4	88408376	1.000000	0.71417	0.782000	0.31804	0.934000	0.57294	3.904000	0.56325	0.545000	0.28902	0.561000	0.74099	GTT		0.647	OPN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049158.2	NM_033282		4	91	0	0	0	0.001168	0	4	91				
LIPF	8513	broad.mit.edu	37	10	90427398	90427398	+	Missense_Mutation	SNP	G	G	C			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr10:90427398G>C	ENST00000238983.4	+	3	224	c.178G>C	c.(178-180)Gaa>Caa	p.E60Q	LIPF_ENST00000355843.2_Missense_Mutation_p.E70Q|LIPF_ENST00000394375.3_Missense_Mutation_p.E70Q|LIPF_ENST00000608620.1_Missense_Mutation_p.E60Q	NM_004190.3	NP_004181.1	P07098	LIPG_HUMAN	lipase, gastric	60					lipid catabolic process (GO:0016042)|malate metabolic process (GO:0006108)|triglyceride metabolic process (GO:0006641)	extracellular region (GO:0005576)|mitochondrion (GO:0005739)	lipid binding (GO:0008289)|malate dehydrogenase activity (GO:0016615)|triglyceride lipase activity (GO:0004806)			NS(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(6)	13		Colorectal(252;0.0161)		Colorectal(12;3.91e-05)|COAD - Colon adenocarcinoma(12;5.43e-05)	Orlistat(DB01083)	TTATATTCTTGAAGTCAATAG	0.333																																							uc001kfg.1		NA																	0					0						c.(178-180)GAA>CAA		lipase, gastric precursor							85.0	101.0	95.0					10																	90427398		2203	4295	6498	SO:0001583	missense	8513				lipid catabolic process|triglyceride metabolic process	extracellular region	lipid binding|triglyceride lipase activity	g.chr10:90427398G>C	X05997	CCDS7389.1, CCDS55718.1, CCDS55719.1, CCDS65896.1	10q23	2005-10-30			ENSG00000182333	ENSG00000182333	3.1.1.3		6622	protein-coding gene	gene with protein product		601980				3304425, 9186906	Standard	NM_004190		Approved	HGL, HLAL	uc010qmt.2	P07098	OTTHUMG00000018695	ENST00000238983.4:c.178G>C	10.37:g.90427398G>C	ENSP00000238983:p.Glu60Gln					LIPF_uc009xtk.2_Missense_Mutation_p.E60Q|LIPF_uc001kfh.1_Missense_Mutation_p.E70Q|LIPF_uc010qmt.1_Missense_Mutation_p.E70Q|LIPF_uc010qmu.1_Missense_Mutation_p.E60Q	p.E60Q	NM_004190	NP_004181	P07098	LIPG_HUMAN		Colorectal(12;3.91e-05)|COAD - Colon adenocarcinoma(12;5.43e-05)	3	344	+		Colorectal(252;0.0161)	60					B7Z723|F5H1P4|Q2M1P6|Q5VXI7|Q5VXI8|Q658L8	Missense_Mutation	SNP	ENST00000238983.4	37	c.178G>C	CCDS7389.1	.	.	.	.	.	.	.	.	.	.	G	3.066	-0.192109	0.06299	.	.	ENSG00000182333	ENST00000394375;ENST00000238983;ENST00000355843	T;T;T	0.71341	-0.56;-0.56;-0.56	4.64	1.61	0.23674	Partial AB-hydrolase lipase domain (1);	1.062580	0.07340	N	0.880601	T	0.52224	0.1721	N	0.24115	0.695	0.09310	N	1	B;B;B;B;B	0.15141	0.0;0.002;0.008;0.012;0.002	B;B;B;B;B	0.19148	0.002;0.005;0.008;0.024;0.008	T	0.35001	-0.9806	10	0.15952	T	0.53	0.1285	4.9411	0.13965	0.2178:0.354:0.4282:0.0	.	60;70;70;70;60	Q5VXI8;F5H1P4;B7Z723;Q658L8;P07098	.;.;.;.;LIPG_HUMAN	Q	70;60;60	ENSP00000377900:E70Q;ENSP00000238983:E60Q;ENSP00000348101:E60Q	ENSP00000238983:E60Q	E	+	1	0	LIPF	90417378	0.310000	0.24527	0.171000	0.22900	0.392000	0.30506	0.718000	0.25866	0.540000	0.28808	0.650000	0.86243	GAA		0.333	LIPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049256.1			3	80	0	0	0	0.001168	0	3	80				
TNKS2	80351	broad.mit.edu	37	10	93619378	93619378	+	Missense_Mutation	SNP	A	A	G			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr10:93619378A>G	ENST00000371627.4	+	25	3633	c.3254A>G	c.(3253-3255)aAa>aGa	p.K1085R		NM_025235.3	NP_079511.1	Q9H2K2	TNKS2_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase 2	1085	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.				multicellular organism growth (GO:0035264)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of telomere maintenance via telomerase (GO:0032212)|protein ADP-ribosylation (GO:0006471)|protein auto-ADP-ribosylation (GO:0070213)|protein localization to chromosome, telomeric region (GO:0070198)|protein polyubiquitination (GO:0000209)|regulation of multicellular organism growth (GO:0040014)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nuclear chromosome, telomeric region (GO:0000784)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|pericentriolar material (GO:0000242)|perinuclear region of cytoplasm (GO:0048471)	enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			biliary_tract(1)|breast(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	48		Colorectal(252;0.162)				CCAGTTCACAAAGACAGATCT	0.388																																							uc001khp.2		NA																	0				kidney(3)|skin(3)|ovary(1)|lung(1)	8						c.(3253-3255)AAA>AGA		tankyrase, TRF1-interacting ankyrin-related							118.0	113.0	115.0					10																	93619378		2203	4300	6503	SO:0001583	missense	80351				positive regulation of canonical Wnt receptor signaling pathway|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein polyubiquitination|Wnt receptor signaling pathway	Golgi membrane|microsome|nuclear envelope|pericentriolar material|perinuclear region of cytoplasm	NAD+ ADP-ribosyltransferase activity|protein binding	g.chr10:93619378A>G	AF342982	CCDS7417.1	10q23.3	2013-01-10			ENSG00000107854	ENSG00000107854		"""Poly (ADP-ribose) polymerases"", ""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	15677	protein-coding gene	gene with protein product		607128					Standard	NM_025235		Approved	TNKL, TANK2, PARP-5b, PARP-5c, PARP5B, PARP5C, pART6	uc001khp.3	Q9H2K2	OTTHUMG00000018747	ENST00000371627.4:c.3254A>G	10.37:g.93619378A>G	ENSP00000360689:p.Lys1085Arg						p.K1085R	NM_025235	NP_079511	Q9H2K2	TNKS2_HUMAN			25	3551	+		Colorectal(252;0.162)	1085			PARP catalytic.		B2RBD3|Q9H8F2|Q9HAS4	Missense_Mutation	SNP	ENST00000371627.4	37	c.3254A>G	CCDS7417.1	.	.	.	.	.	.	.	.	.	.	A	27.3	4.822335	0.90873	.	.	ENSG00000107854	ENST00000371627	T	0.68765	-0.35	5.95	5.95	0.96441	Poly(ADP-ribose) polymerase, catalytic domain (2);	0.000000	0.64402	D	0.000004	T	0.78259	0.4255	L	0.52011	1.625	0.58432	D	0.999999	D	0.63046	0.992	D	0.79784	0.993	T	0.78984	-0.1988	10	0.56958	D	0.05	.	16.4046	0.83654	1.0:0.0:0.0:0.0	.	1085	Q9H2K2	TNKS2_HUMAN	R	1085	ENSP00000360689:K1085R	ENSP00000360689:K1085R	K	+	2	0	TNKS2	93609358	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.331000	0.96430	2.279000	0.76181	0.472000	0.43445	AAA		0.388	TNKS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049374.1	NM_025235		32	23	0	0	0	0.006999	0	32	23				
DNTT	1791	broad.mit.edu	37	10	98064330	98064330	+	Missense_Mutation	SNP	T	T	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr10:98064330T>A	ENST00000371174.2	+	1	178	c.76T>A	c.(76-78)Tct>Act	p.S26T	DNTT_ENST00000419175.1_Missense_Mutation_p.S26T|RP11-35J23.1_ENST00000454484.2_RNA			P04053	TDT_HUMAN	DNA nucleotidylexotransferase	26					DNA modification (GO:0006304)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA nucleotidylexotransferase activity (GO:0003912)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	27		Colorectal(252;0.0815)|all_hematologic(284;0.224)		Epithelial(162;7.97e-08)|all cancers(201;1.89e-06)		GATGGCCTCCTCTCCTCAAGA	0.567																																							uc001kmf.2		NA																	0				ovary(1)	1						c.(76-78)TCT>ACT		terminal deoxynucleotidyltransferase isoform 1							48.0	53.0	51.0					10																	98064330		2203	4300	6503	SO:0001583	missense	1791				DNA modification	nucleus	DNA binding|DNA nucleotidylexotransferase activity|DNA-directed DNA polymerase activity|metal ion binding	g.chr10:98064330T>A	AB046378	CCDS7447.1	10q23-q24	2013-05-21	2013-05-21		ENSG00000107447	ENSG00000107447	2.7.7.31	"""DNA polymerases"""	2983	protein-coding gene	gene with protein product	"""Terminal deoxynucleotidyltransferase"""	187410	"""deoxynucleotidyltransferase, terminal"""				Standard	NM_004088		Approved	TDT	uc001kmf.3	P04053	OTTHUMG00000018832	ENST00000371174.2:c.76T>A	10.37:g.98064330T>A	ENSP00000360216:p.Ser26Thr					DNTT_uc001kmg.2_Missense_Mutation_p.S26T	p.S26T	NM_004088	NP_004079	P04053	TDT_HUMAN		Epithelial(162;7.97e-08)|all cancers(201;1.89e-06)	1	246	+		Colorectal(252;0.0815)|all_hematologic(284;0.224)	26					Q53FH1|Q5W103|Q96E50	Missense_Mutation	SNP	ENST00000371174.2	37	c.76T>A	CCDS7447.1	.	.	.	.	.	.	.	.	.	.	T	5.747	0.322191	0.10900	.	.	ENSG00000107447	ENST00000419175;ENST00000371174	T;T	0.11277	2.79;2.79	5.76	-2.09	0.07232	.	1.545970	0.03321	N	0.191991	T	0.03348	0.0097	N	0.02854	-0.475	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.29181	-1.0020	10	0.09084	T	0.74	-0.4382	0.4248	0.00461	0.2201:0.287:0.1648:0.3281	.	26;26	P04053-2;P04053	.;TDT_HUMAN	T	26	ENSP00000401169:S26T;ENSP00000360216:S26T	ENSP00000360216:S26T	S	+	1	0	DNTT	98054320	0.000000	0.05858	0.000000	0.03702	0.169000	0.22640	-0.880000	0.04183	-0.635000	0.05531	-0.438000	0.05819	TCT		0.567	DNTT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049607.1	NM_004088		12	27	0	0	0	0.001855	0	12	27				
ANKRD2	26287	broad.mit.edu	37	10	99338071	99338071	+	Silent	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr10:99338071C>A	ENST00000307518.5	+	3	612	c.345C>A	c.(343-345)ctC>ctA	p.L115L	ANKRD2_ENST00000298808.5_Silent_p.L115L|ANKRD2_ENST00000370655.1_Silent_p.L88L|ANKRD2_ENST00000455090.1_Silent_p.L88L			Q9GZV1	ANKR2_HUMAN	ankyrin repeat domain 2 (stretch responsive muscle)	115	May mediate interaction with PML, p53/TP53 and YBX1.				muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|skeletal muscle cell differentiation (GO:0035914)	cytosol (GO:0005829)|euchromatin (GO:0000791)|I band (GO:0031674)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	protein kinase B binding (GO:0043422)|structural constituent of muscle (GO:0008307)			breast(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|stomach(1)	7		all_hematologic(284;1.95e-06)|Colorectal(252;0.0163)		Epithelial(162;1.18e-94)|all cancers(201;9.31e-86)|BRCA - Breast invasive adenocarcinoma(275;0.0233)|STAD - Stomach adenocarcinoma(243;0.181)|KIRC - Kidney renal clear cell carcinoma(50;0.206)|Kidney(138;0.241)		TCCAGAACCTCATCGAGCTGC	0.667																																							uc001knw.2		NA																	0					0						c.(343-345)CTC>CTA		ankyrin repeat domain 2 isoform a							31.0	31.0	31.0					10																	99338071		2203	4300	6503	SO:0001819	synonymous_variant	26287				muscle contraction|muscle organ development		structural constituent of muscle	g.chr10:99338071C>A	AJ304805	CCDS7466.1, CCDS44468.1	10q23	2013-01-10			ENSG00000165887	ENSG00000165887		"""Ankyrin repeat domain containing"""	495	protein-coding gene	gene with protein product		610734				10873377, 15136035, 15677738	Standard	NM_001129981		Approved	ARPP	uc001knw.3	Q9GZV1	OTTHUMG00000018860	ENST00000307518.5:c.345C>A	10.37:g.99338071C>A						ANKRD2_uc009xvu.2_Silent_p.L115L	p.L115L	NM_020349	NP_065082	Q9GZV1	ANKR2_HUMAN		Epithelial(162;1.18e-94)|all cancers(201;9.31e-86)|BRCA - Breast invasive adenocarcinoma(275;0.0233)|STAD - Stomach adenocarcinoma(243;0.181)|KIRC - Kidney renal clear cell carcinoma(50;0.206)|Kidney(138;0.241)	3	554	+		all_hematologic(284;1.95e-06)|Colorectal(252;0.0163)	115					Q3B778|Q5T456|Q70EZ9|Q8WUD7|Q96MG0|Q9NQC9	Silent	SNP	ENST00000307518.5	37	c.345C>A	CCDS7466.1																																																																																				0.667	ANKRD2-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				13	19	1	0	1.5739e-10	0.004007	1.96786e-10	13	19				
PAX2	5076	broad.mit.edu	37	10	102587431	102587431	+	3'UTR	SNP	C	C	G			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr10:102587431C>G	ENST00000428433.1	+	0	1859				PAX2_ENST00000370296.2_3'UTR|PAX2_ENST00000361791.3_3'UTR|PAX2_ENST00000355243.3_3'UTR	NM_003987.3|NM_003990.3	NP_003978|NP_003981.2	Q02962	PAX2_HUMAN	paired box 2						aging (GO:0007568)|axonogenesis (GO:0007409)|brain morphogenesis (GO:0048854)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye development (GO:0043010)|cell fate determination (GO:0001709)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucose stimulus (GO:0071333)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to mechanical stimulus (GO:0071260)|cellular response to retinoic acid (GO:0071300)|cochlea development (GO:0090102)|cochlea morphogenesis (GO:0090103)|glial cell differentiation (GO:0010001)|inner ear morphogenesis (GO:0042472)|mesenchymal to epithelial transition (GO:0060231)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|mesodermal cell fate specification (GO:0007501)|mesonephric duct development (GO:0072177)|mesonephric tubule formation (GO:0072172)|mesonephros development (GO:0001823)|metanephric collecting duct development (GO:0072205)|metanephric distal convoluted tubule development (GO:0072221)|metanephric epithelium development (GO:0072207)|metanephric mesenchymal cell differentiation (GO:0072162)|metanephric mesenchyme development (GO:0072075)|metanephric nephron tubule formation (GO:0072289)|negative regulation of apoptotic process (GO:0043066)|negative regulation of apoptotic process involved in metanephric collecting duct development (GO:1900215)|negative regulation of apoptotic process involved in metanephric nephron tubule development (GO:1900218)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of cytolysis (GO:0045918)|negative regulation of mesenchymal cell apoptotic process involved in metanephric nephron morphogenesis (GO:0072305)|negative regulation of mesenchymal cell apoptotic process involved in metanephros development (GO:1900212)|negative regulation of programmed cell death (GO:0043069)|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)|nephric duct formation (GO:0072179)|neural tube closure (GO:0001843)|optic chiasma development (GO:0061360)|optic cup morphogenesis involved in camera-type eye development (GO:0002072)|optic nerve development (GO:0021554)|optic nerve morphogenesis (GO:0021631)|optic nerve structural organization (GO:0021633)|pancreas development (GO:0031016)|paramesonephric duct development (GO:0061205)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0072108)|positive regulation of metanephric DCT cell differentiation (GO:2000594)|positive regulation of metanephric glomerulus development (GO:0072300)|positive regulation of optic nerve formation (GO:2000597)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|pronephric field specification (GO:0039003)|pronephros development (GO:0048793)|protein kinase B signaling (GO:0043491)|reactive oxygen species metabolic process (GO:0072593)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)|regulation of metanephros size (GO:0035566)|response to nutrient levels (GO:0031667)|retinal pigment epithelium development (GO:0003406)|stem cell differentiation (GO:0048863)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)|ureter development (GO:0072189)|ureter maturation (GO:0035799)|ureter morphogenesis (GO:0072197)|urogenital system development (GO:0001655)|vestibulocochlear nerve formation (GO:0021650)|visual perception (GO:0007601)	centriolar satellite (GO:0034451)|lysosome (GO:0005764)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)|protein complex (GO:0043234)|protein-DNA complex (GO:0032993)	core promoter proximal region sequence-specific DNA binding (GO:0000987)|DNA binding (GO:0003677)|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 (GO:0000982)|superoxide-generating NADPH oxidase activity (GO:0016175)|transcription regulatory region DNA binding (GO:0044212)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	18		Colorectal(252;0.234)		Epithelial(162;1.32e-08)|all cancers(201;7.32e-07)		TCCACATCGTCCCCGTCTGAC	0.711																																							uc001krk.3		NA																	0					0						c.(1285-1287)GTC>GTG		paired box protein 2 isoform e							21.0	25.0	23.0					10																	102587431		1123	2163	3286	SO:0001624	3_prime_UTR_variant	5076				anti-apoptosis|axonogenesis|brain morphogenesis|branching involved in ureteric bud morphogenesis|cell fate determination|cellular response to glucose stimulus|cellular response to hydrogen peroxide|cellular response to retinoic acid|cochlea development|glial cell differentiation|inner ear morphogenesis|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesodermal cell fate specification|mesonephros development|metanephric collecting duct development|metanephric distal convoluted tubule development|metanephric mesenchymal cell differentiation|metanephric nephron tubule formation|negative regulation of caspase activity|negative regulation of cytolysis|negative regulation of mesenchymal stem cell apoptosis involved in metanephric nephron morphogenesis|negative regulation of reactive oxygen species metabolic process|negative regulation of transcription, DNA-dependent|nephric duct formation|neural tube closure|optic chiasma development|optic cup morphogenesis involved in camera-type eye development|optic nerve structural organization|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of metanephric DCT cell differentiation|positive regulation of metanephric glomerulus development|positive regulation of optic nerve formation|positive regulation of transcription from RNA polymerase II promoter|pronephric field specification|protein kinase B signaling cascade|reactive oxygen species metabolic process|regulation of metanephric nephron tubule epithelial cell differentiation|regulation of metanephros size|retinal pigment epithelium development|stem cell differentiation|transcription from RNA polymerase II promoter|ureter maturation|vestibulocochlear nerve formation|visual perception	centriolar satellite|nucleus|protein complex|protein-DNA complex	core promoter proximal region sequence-specific DNA binding|superoxide-generating NADPH oxidase activity	g.chr10:102587431C>G		CCDS7499.1, CCDS41561.1	10q24.31	2011-06-20	2007-07-12		ENSG00000075891	ENSG00000075891		"""Paired boxes"", ""Homeoboxes / PRD class"""	8616	protein-coding gene	gene with protein product		167409	"""paired box gene 2"""			8431641, 7981748	Standard	NM_003990		Approved		uc001krk.4	Q02962	OTTHUMG00000018913	ENST00000428433.1:c.*55C>G	10.37:g.102587431C>G						PAX2_uc001krl.3_3'UTR|PAX2_uc001krm.3_3'UTR|PAX2_uc001kro.3_3'UTR|PAX2_uc001krn.3_Silent_p.V406V|PAX2_uc010qps.1_3'UTR	p.V429V	NM_003990	NP_003981	Q02962	PAX2_HUMAN		Epithelial(162;1.32e-08)|all cancers(201;7.32e-07)	12	1837	+		Colorectal(252;0.234)	Error:Variant_position_missing_in_Q02962_after_alignment					Q15105|Q15110|Q15837|Q5SZP2|Q5SZP3	Silent	SNP	ENST00000428433.1	37	c.1287C>G	CCDS53569.1																																																																																				0.711	PAX2-202	KNOWN	basic|CCDS	protein_coding	protein_coding				7	21	0	0	0	0.001984	0	7	21				
PDCD11	22984	broad.mit.edu	37	10	105182844	105182844	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr10:105182844G>T	ENST00000369797.3	+	18	2691	c.2597G>T	c.(2596-2598)gGg>gTg	p.G866V		NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN	programmed cell death 11	866					mRNA processing (GO:0006397)|rRNA processing (GO:0006364)	cytosol (GO:0005829)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		GTATTCAGTGGGGGTCCAGTG	0.567																																							uc001kwy.1		NA																	0				ovary(2)|breast(2)|skin(2)|central_nervous_system(1)	7						c.(2596-2598)GGG>GTG		programmed cell death 11							146.0	125.0	132.0					10																	105182844		2203	4300	6503	SO:0001583	missense	22984				mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding	g.chr10:105182844G>T	D80007	CCDS31276.1	10q24.32	2010-07-06			ENSG00000148843	ENSG00000148843			13408	protein-coding gene	gene with protein product		612333				10229231	Standard	XM_005269647		Approved	KIAA0185, ALG-4, RRP5	uc001kwy.1	Q14690	OTTHUMG00000018988	ENST00000369797.3:c.2597G>T	10.37:g.105182844G>T	ENSP00000358812:p.Gly866Val						p.G866V	NM_014976	NP_055791	Q14690	RRP5_HUMAN		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)	18	2684	+		Colorectal(252;0.0747)|Breast(234;0.128)	866					Q2TA92|Q5W093|Q6P2J3|Q86VQ8|Q9H4P1	Missense_Mutation	SNP	ENST00000369797.3	37	c.2597G>T	CCDS31276.1	.	.	.	.	.	.	.	.	.	.	G	12.12	1.842553	0.32606	.	.	ENSG00000148843	ENST00000369797;ENST00000543503	T	0.09445	2.98	5.95	2.42	0.29668	RNA-binding domain, S1 (1);	0.479628	0.24737	N	0.036012	T	0.05181	0.0138	N	0.08118	0	0.42524	D	0.993018	B	0.28552	0.215	B	0.31946	0.138	T	0.44862	-0.9300	10	0.21540	T	0.41	-14.8857	7.3755	0.26825	0.4141:0.0:0.5859:0.0	.	866	Q14690	RRP5_HUMAN	V	866	ENSP00000358812:G866V	ENSP00000358812:G866V	G	+	2	0	PDCD11	105172834	1.000000	0.71417	1.000000	0.80357	0.822000	0.46500	1.256000	0.32921	0.713000	0.32060	0.491000	0.48974	GGG		0.567	PDCD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050151.1			24	38	1	0	3.7963e-18	0.00333	5.33492e-18	24	38				
SLK	9748	broad.mit.edu	37	10	105779539	105779539	+	Missense_Mutation	SNP	G	G	C			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr10:105779539G>C	ENST00000369755.3	+	16	3725	c.3180G>C	c.(3178-3180)ttG>ttC	p.L1060F	SLK_ENST00000335753.4_Missense_Mutation_p.L1029F	NM_014720.2	NP_055535.2	Q9H2G2	SLK_HUMAN	STE20-like kinase	1060					apoptotic process (GO:0006915)|protein autophosphorylation (GO:0046777)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)			kidney(1)|lung(1)|ovary(2)|skin(2)|stomach(2)	8		Colorectal(252;0.178)		Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		TTGAGGAATTGAAAAACAGAC	0.393																																					NSCLC(111;540 1651 1927 4474 17706)	NSCLC(111;540 1651 1927 4474 17706)	uc001kxo.1		NA																	0				ovary(2)|stomach(2)|skin(2)|lung(1)|kidney(1)	8						c.(3178-3180)TTG>TTC		serine/threonine kinase 2							104.0	107.0	106.0					10																	105779539		2203	4300	6503	SO:0001583	missense	9748				apoptosis|nucleotide-excision repair	cytoplasm|plasma membrane	ATP binding|DNA binding|nuclease activity|protein serine/threonine kinase activity	g.chr10:105779539G>C		CCDS7553.1	10q25.1	2010-06-25	2010-06-25		ENSG00000065613	ENSG00000065613			11088	protein-coding gene	gene with protein product			"""SNF1 (sucrose nonfermenting, yeast, homolog)-like kinase, SNF1 sucrose nonfermenting like kinase (yeast)"", ""STE20-like kinase (yeast)"""			3526554	Standard	NM_014720		Approved	STK2, se20-9, KIAA0204	uc001kxo.1	Q9H2G2	OTTHUMG00000018999	ENST00000369755.3:c.3180G>C	10.37:g.105779539G>C	ENSP00000358770:p.Leu1060Phe					SLK_uc001kxp.1_Missense_Mutation_p.L1029F	p.L1060F	NM_014720	NP_055535	Q9H2G2	SLK_HUMAN		Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)	16	3214	+		Colorectal(252;0.178)	1060			Potential.		D3DRA0|D3DRA1|O00211|Q6P1Z4|Q86WU7|Q86WW1|Q92603|Q9NQL0|Q9NQL1	Missense_Mutation	SNP	ENST00000369755.3	37	c.3180G>C	CCDS7553.1	.	.	.	.	.	.	.	.	.	.	G	19.67	3.871693	0.72065	.	.	ENSG00000065613	ENST00000335753;ENST00000369755	T;T	0.38240	1.15;1.15	5.02	4.04	0.47022	Protein kinase-like domain (1);	0.131447	0.50627	D	0.000104	T	0.57431	0.2053	M	0.77313	2.365	0.51482	D	0.99992	D;D	0.89917	1.0;1.0	D;D	0.79784	0.989;0.993	T	0.60910	-0.7169	10	0.87932	D	0	.	10.3539	0.43952	0.1603:0.0:0.8397:0.0	.	1029;1060	Q9H2G2-2;Q9H2G2	.;SLK_HUMAN	F	1029;1060	ENSP00000336824:L1029F;ENSP00000358770:L1060F	ENSP00000336824:L1029F	L	+	3	2	SLK	105769529	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.668000	0.46816	2.609000	0.88269	0.484000	0.47621	TTG		0.393	SLK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050188.1	NM_014720		15	93	0	0	0	0.00499	0	15	93				
ATRNL1	26033	broad.mit.edu	37	10	117607386	117607386	+	Splice_Site	SNP	A	A	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr10:117607386A>T	ENST00000355044.3	+	28	4029		c.e28-1		ATRNL1_ENST00000303745.7_Splice_Site|ATRNL1_ENST00000423111.2_Splice_Site	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1						G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		TTTCTTTTTCAGGGGGCACCC	0.433																																							uc001lcg.2		NA																	0				ovary(5)|lung(1)|central_nervous_system(1)	7						c.e28-2		attractin-like 1 precursor							87.0	82.0	84.0					10																	117607386		2203	4300	6503	SO:0001630	splice_region_variant	26033					integral to membrane	sugar binding	g.chr10:117607386A>T	AB011106	CCDS7592.1, CCDS73204.1	10q26	2004-03-04			ENSG00000107518	ENSG00000107518			29063	protein-coding gene	gene with protein product		612869				9628581	Standard	NM_001276282		Approved	KIAA0534, FLJ45344, ALP	uc001lcg.3	Q5VV63	OTTHUMG00000019096	ENST00000355044.3:c.3904-1A>T	10.37:g.117607386A>T						ATRNL1_uc010qsm.1_Splice_Site_p.G431_splice|ATRNL1_uc010qsn.1_Splice_Site	p.G1302_splice	NM_207303	NP_997186	Q5VV63	ATRN1_HUMAN		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)	28	4290	+		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)						O60283|Q5JSE8|Q5T5Y9|Q6T256|Q6ZSN4|Q86WX2	Splice_Site	SNP	ENST00000355044.3	37	c.3904_splice	CCDS7592.1	.	.	.	.	.	.	.	.	.	.	A	24.4	4.532273	0.85812	.	.	ENSG00000107518	ENST00000355044;ENST00000423111;ENST00000303745	.	.	.	5.57	5.57	0.84162	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.7219	0.77718	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ATRNL1	117597376	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	8.125000	0.89590	2.118000	0.64928	0.477000	0.44152	.		0.433	ATRNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050507.3	XM_049349	Intron	5	21	0	0	0	0.00308	0	5	21				
PNLIPRP3	119548	broad.mit.edu	37	10	118236601	118236601	+	Splice_Site	SNP	G	G	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr10:118236601G>A	ENST00000369230.3	+	12	1486		c.e12-1			NM_001011709.2	NP_001011709.2	Q17RR3	LIPR3_HUMAN	pancreatic lipase-related protein 3						lipid catabolic process (GO:0016042)	extracellular region (GO:0005576)	triglyceride lipase activity (GO:0004806)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(29)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50				all cancers(201;0.0131)		AAAACTTTCAGATCTACCTTC	0.358																																							uc001lcl.3		NA																	0				ovary(1)	1						c.e12-1		pancreatic lipase-related protein 3 precursor							76.0	73.0	74.0					10																	118236601		2203	4300	6503	SO:0001630	splice_region_variant	119548				lipid catabolic process	extracellular region	triglyceride lipase activity	g.chr10:118236601G>A	BC015840	CCDS31292.1	10q26.12	2014-03-14			ENSG00000203837	ENSG00000203837	3.1.1.3		23492	protein-coding gene	gene with protein product							Standard	NM_001011709		Approved		uc001lcl.4	Q17RR3	OTTHUMG00000019100	ENST00000369230.3:c.1341-1G>A	10.37:g.118236601G>A							p.K447_splice	NM_001011709	NP_001011709	Q17RR3	LIPR3_HUMAN		all cancers(201;0.0131)	12	1442	+									Splice_Site	SNP	ENST00000369230.3	37	c.1341_splice	CCDS31292.1	.	.	.	.	.	.	.	.	.	.	G	11.65	1.701719	0.30142	.	.	ENSG00000203837	ENST00000369230	.	.	.	5.11	5.11	0.69529	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.3054	0.82846	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PNLIPRP3	118226591	1.000000	0.71417	1.000000	0.80357	0.287000	0.27160	2.774000	0.47694	2.763000	0.94921	0.650000	0.86243	.		0.358	PNLIPRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050520.1	XM_058404	Intron	9	30	0	0	0	0.004482	0	9	30				
ADAM12	8038	broad.mit.edu	37	10	127724787	127724787	+	Silent	SNP	G	G	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr10:127724787G>T	ENST00000368679.4	-	21	2775	c.2466C>A	c.(2464-2466)ctC>ctA	p.L822L		NM_003474.4	NP_003465.3	O43184	ADA12_HUMAN	ADAM metallopeptidase domain 12	822					cell adhesion (GO:0007155)|epidermal growth factor receptor signaling pathway (GO:0007173)|myoblast fusion (GO:0007520)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)		GAGCCCGGTGGAGGGGAGGAA	0.582																																							uc001ljk.2		NA																	0				breast(4)|ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	9						c.(2464-2466)CTC>CTA		ADAM metallopeptidase domain 12 isoform 1							82.0	82.0	82.0					10																	127724787		2203	4300	6503	SO:0001819	synonymous_variant	8038				cell adhesion|epidermal growth factor receptor signaling pathway|myoblast fusion|proteolysis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|protein binding|SH3 domain binding|zinc ion binding	g.chr10:127724787G>T	AF023476	CCDS7653.1, CCDS7654.1	10q26	2008-07-29	2008-07-29		ENSG00000148848	ENSG00000148848		"""ADAM metallopeptidase domain containing"""	190	protein-coding gene	gene with protein product	"""meltrin alpha"""	602714	"""a disintegrin and metalloproteinase domain 12 (meltrin alpha)"""			9417060, 18342566	Standard	NM_003474		Approved	MCMPMltna, MLTN	uc001ljk.2	O43184	OTTHUMG00000019243	ENST00000368679.4:c.2466C>A	10.37:g.127724787G>T						ADAM12_uc010qul.1_Silent_p.L773L	p.L822L	NM_003474	NP_003465	O43184	ADA12_HUMAN		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)	21	2879	-		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)	822			Cytoplasmic (Potential).		O60470|Q5JRP0|Q5JRP1|Q6P9E3|Q6UWB0	Silent	SNP	ENST00000368679.4	37	c.2466C>A	CCDS7653.1																																																																																				0.582	ADAM12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050961.1			48	64	1	0	9.90819e-18	0.00361	1.38468e-17	48	64				
ADAM12	8038	broad.mit.edu	37	10	127731628	127731628	+	Silent	SNP	G	G	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr10:127731628G>A	ENST00000368679.4	-	18	2403	c.2094C>T	c.(2092-2094)agC>agT	p.S698S	ADAM12_ENST00000368676.4_Silent_p.S698S	NM_003474.4	NP_003465.3	O43184	ADA12_HUMAN	ADAM metallopeptidase domain 12	698					cell adhesion (GO:0007155)|epidermal growth factor receptor signaling pathway (GO:0007173)|myoblast fusion (GO:0007520)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)		GGATGGGGCCGCTGTCTGTGC	0.637																																							uc001ljk.2		NA																	0				breast(4)|ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	9						c.(2092-2094)AGC>AGT		ADAM metallopeptidase domain 12 isoform 1							69.0	58.0	62.0					10																	127731628		2203	4300	6503	SO:0001819	synonymous_variant	8038				cell adhesion|epidermal growth factor receptor signaling pathway|myoblast fusion|proteolysis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|protein binding|SH3 domain binding|zinc ion binding	g.chr10:127731628G>A	AF023476	CCDS7653.1, CCDS7654.1	10q26	2008-07-29	2008-07-29		ENSG00000148848	ENSG00000148848		"""ADAM metallopeptidase domain containing"""	190	protein-coding gene	gene with protein product	"""meltrin alpha"""	602714	"""a disintegrin and metalloproteinase domain 12 (meltrin alpha)"""			9417060, 18342566	Standard	NM_003474		Approved	MCMPMltna, MLTN	uc001ljk.2	O43184	OTTHUMG00000019243	ENST00000368679.4:c.2094C>T	10.37:g.127731628G>A						ADAM12_uc010qul.1_Silent_p.S649S|ADAM12_uc001ljm.2_Silent_p.S698S|ADAM12_uc001ljn.2_Silent_p.S695S|ADAM12_uc001ljl.3_Silent_p.S695S	p.S698S	NM_003474	NP_003465	O43184	ADA12_HUMAN		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)	18	2507	-		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)	698			Extracellular (Potential).		O60470|Q5JRP0|Q5JRP1|Q6P9E3|Q6UWB0	Silent	SNP	ENST00000368679.4	37	c.2094C>T	CCDS7653.1																																																																																				0.637	ADAM12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050961.1			3	38	0	0	0	0.009096	0	3	38				
EBF3	253738	broad.mit.edu	37	10	131639150	131639150	+	Missense_Mutation	SNP	G	G	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr10:131639150G>A	ENST00000355311.5	-	14	1591	c.1519C>T	c.(1519-1521)Cct>Tct	p.P507S	MIR4297_ENST00000579857.1_RNA|EBF3_ENST00000368648.3_Missense_Mutation_p.P498S			Q9H4W6	COE3_HUMAN	early B-cell factor 3	507	Pro/Ser/Thr-rich.				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)		AGAAATCCAGGCGAGCCAGGG	0.522																																							uc001lki.1		NA																	0				central_nervous_system(1)|pancreas(1)	2						c.(1492-1494)CCT>TCT		early B-cell factor 3							122.0	117.0	119.0					10																	131639150		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.chr10:131639150G>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.1519C>T	10.37:g.131639150G>A	ENSP00000347463:p.Pro507Ser						p.P498S	NM_001005463	NP_001005463	Q9H4W6	COE3_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;0.00513)	14	1551	-		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)	507			Pro/Ser/Thr-rich.		A0AUY1|Q5T6H9|Q9H4W5	Missense_Mutation	SNP	ENST00000355311.5	37	c.1492C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.67|17.67	3.448155|3.448155	0.63178|0.63178	.|.	.|.	ENSG00000108001|ENSG00000108001	ENST00000440978|ENST00000355311;ENST00000368648	.|T;T	.|0.56444	.|0.46;0.46	4.89|4.89	4.89|4.89	0.63831|0.63831	.|.	.|0.097590	.|0.64402	.|D	.|0.000001	T|T	0.68869|0.68869	0.3048|0.3048	M|M	0.69523|0.69523	2.12|2.12	0.80722|0.80722	D|D	1|1	.|P	.|0.44344	.|0.833	.|P	.|0.55871	.|0.786	T|T	0.70857|0.70857	-0.4758|-0.4758	5|10	.|0.54805	.|T	.|0.06	-4.9196|-4.9196	18.2577|18.2577	0.90024|0.90024	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|498	.|Q9H4W6-2	.|.	V|S	68|507;498	.|ENSP00000347463:P507S;ENSP00000357637:P498S	.|ENSP00000347463:P507S	A|P	-|-	2|1	0|0	EBF3|EBF3	131529140|131529140	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	1.000000|1.000000	0.99986|0.99986	9.607000|9.607000	0.98328|0.98328	2.523000|2.523000	0.85059|0.85059	0.655000|0.655000	0.94253|0.94253	GCC|CCT		0.522	EBF3-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051015.2	NM_001005463		10	91	0	0	0	0.00245	0	10	91				
GLRX3	10539	broad.mit.edu	37	10	131973129	131973129	+	Splice_Site	SNP	A	A	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr10:131973129A>T	ENST00000368644.1	+	9	846		c.e9-1		GLRX3_ENST00000331244.5_Splice_Site	NM_001199868.1	NP_001186797.1	O76003	GLRX3_HUMAN	glutaredoxin 3						cell redox homeostasis (GO:0045454)|negative regulation of cardiac muscle hypertrophy (GO:0010614)|regulation of the force of heart contraction (GO:0002026)	extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	electron carrier activity (GO:0009055)|iron-sulfur cluster binding (GO:0051536)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein disulfide oxidoreductase activity (GO:0015035)			endometrium(1)|large_intestine(5)|lung(7)	13		all_cancers(35;9.59e-07)|all_epithelial(44;1.48e-06)|Lung NSC(174;0.00566)|all_lung(145;0.00949)|Colorectal(57;0.142)|all_neural(114;0.16)|Breast(234;0.173)|Glioma(114;0.222)		OV - Ovarian serous cystadenocarcinoma(35;0.00218)		TCTTTTTTGCAGTGTTGAATA	0.318																																							uc001lkm.1		NA																	0					0						c.e9-2		glutaredoxin 3							181.0	173.0	175.0					10																	131973129		2203	4300	6503	SO:0001630	splice_region_variant	10539				cell redox homeostasis|negative regulation of cardiac muscle hypertrophy|regulation of the force of heart contraction	cell cortex	electron carrier activity|iron-sulfur cluster binding|metal ion binding|protein disulfide oxidoreductase activity	g.chr10:131973129A>T	AJ010841	CCDS7661.1	10q26	2009-05-29	2007-08-16	2007-08-16	ENSG00000108010	ENSG00000108010			15987	protein-coding gene	gene with protein product	"""glutaredoxin 4"""	612754	"""thioredoxin-like 2"""	TXNL2		10636891, 11124703	Standard	NM_006541		Approved	PICOT, bA500G10.4, GRX3, GLRX4, GRX4	uc001lkm.2	O76003	OTTHUMG00000019267	ENST00000368644.1:c.825-1A>T	10.37:g.131973129A>T						GLRX3_uc001lkn.1_Splice_Site_p.G275_splice|GLRX3_uc001lko.2_Splice_Site	p.G275_splice	NM_006541	NP_006532	O76003	GLRX3_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;0.00218)	9	847	+		all_cancers(35;9.59e-07)|all_epithelial(44;1.48e-06)|Lung NSC(174;0.00566)|all_lung(145;0.00949)|Colorectal(57;0.142)|all_neural(114;0.16)|Breast(234;0.173)|Glioma(114;0.222)						B3KMP7|B3KMQ5|D3DRG2|Q5JV01|Q96CE0|Q9P1B0|Q9P1B1	Splice_Site	SNP	ENST00000368644.1	37	c.825_splice	CCDS7661.1	.	.	.	.	.	.	.	.	.	.	A	15.22	2.768727	0.49680	.	.	ENSG00000108010	ENST00000331244;ENST00000368644	.	.	.	4.07	4.07	0.47477	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.0194	0.53333	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	GLRX3	131863119	1.000000	0.71417	0.828000	0.32881	0.640000	0.38277	6.693000	0.74582	1.718000	0.51419	0.459000	0.35465	.		0.318	GLRX3-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051021.1	NM_006541	Intron	38	26	0	0	0	0.002852	0	38	26				
EPS8L2	64787	broad.mit.edu	37	11	724778	724778	+	Silent	SNP	C	C	T	rs149900433		TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr11:724778C>T	ENST00000533256.1	+	17	1884	c.1509C>T	c.(1507-1509)ttC>ttT	p.F503F	EPS8L2_ENST00000526198.1_Silent_p.F519F|EPS8L2_ENST00000318562.8_Silent_p.F503F|EPS8L2_ENST00000530636.1_Silent_p.F503F|AP006621.9_ENST00000527021.2_RNA			Q9H6S3	ES8L2_HUMAN	EPS8-like 2	503	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of ruffle assembly (GO:1900029)|regulation of Rho protein signal transduction (GO:0035023)|Rho protein signal transduction (GO:0007266)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)|vesicle (GO:0031982)	actin binding (GO:0003779)			NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|pancreas(1)|prostate(2)|soft_tissue(1)|urinary_tract(1)	13		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;4.37e-27)|Epithelial(43;2.81e-26)|OV - Ovarian serous cystadenocarcinoma(40;1.33e-20)|BRCA - Breast invasive adenocarcinoma(625;4.29e-05)|Lung(200;0.0582)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TGTATGACTTCACAGCCCGAA	0.607																																							uc001lqt.2		NA																	0				pancreas(1)	1						c.(1507-1509)TTC>TTT		epidermal growth factor receptor pathway							149.0	115.0	126.0					11																	724778		2202	4299	6501	SO:0001819	synonymous_variant	64787					cytoplasm		g.chr11:724778C>T	AF318331	CCDS31328.1	11p15.5	2008-02-05				ENSG00000177106			21296	protein-coding gene	gene with protein product		614988				12620401	Standard	NM_022772		Approved	FLJ21935, FLJ22171, MGC3088	uc001lqt.3	Q9H6S3		ENST00000533256.1:c.1509C>T	11.37:g.724778C>T						EPS8L2_uc001lqu.2_Silent_p.F503F|EPS8L2_uc010qwk.1_Silent_p.F519F|EPS8L2_uc001lqv.2_Silent_p.F458F|EPS8L2_uc001lqw.2_Silent_p.F115F|EPS8L2_uc001lqx.2_Silent_p.F115F|EPS8L2_uc001lqy.2_Silent_p.F11F	p.F503F	NM_022772	NP_073609	Q9H6S3	ES8L2_HUMAN		all cancers(45;4.37e-27)|Epithelial(43;2.81e-26)|OV - Ovarian serous cystadenocarcinoma(40;1.33e-20)|BRCA - Breast invasive adenocarcinoma(625;4.29e-05)|Lung(200;0.0582)|LUSC - Lung squamous cell carcinoma(625;0.0703)	16	1756	+		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)	503			SH3.		B3KSX1|B7ZKL3|Q53GM8|Q8WYW7|Q96K06|Q9H6K9	Silent	SNP	ENST00000533256.1	37	c.1509C>T	CCDS31328.1																																																																																				0.607	EPS8L2-003	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382344.1	NM_022772		12	77	0	0	0	0.007413	0	12	77				
NUP98	4928	broad.mit.edu	37	11	3794932	3794932	+	Missense_Mutation	SNP	A	A	C			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr11:3794932A>C	ENST00000324932.7	-	6	953	c.533T>G	c.(532-534)gTt>gGt	p.V178G	NUP98_ENST00000359171.4_Missense_Mutation_p.V178G|NUP98_ENST00000355260.3_Missense_Mutation_p.V178G|NUP98_ENST00000397004.4_Missense_Mutation_p.V178G|NUP98_ENST00000397007.4_Missense_Mutation_p.V178G	NM_016320.4|NM_139132.3	NP_057404.2|NP_624358.2	P52948	NUP98_HUMAN	nucleoporin 98kDa	178	GLEBS; interaction with RAE1.|Gly/Thr-rich.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|DNA replication (GO:0006260)|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)|nuclear pore organization (GO:0006999)|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)	cytosol (GO:0005829)|nuclear envelope (GO:0005635)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nuclear pore outer ring (GO:0031080)|nucleoplasm (GO:0005654)	peptide binding (GO:0042277)|structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)		GTTAGTGCTAACTCCAGCTTT	0.378			T	"""HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"""	AML																																		uc001lyh.2		NA		Dom	yes		11	11p15	4928	T	nucleoporin 98kDa			L	HOXA9|NSD1|WHSC1L1|DDX10|TOP1|HOXD13|PMX1|HOXA13|HOXD11|HOXA11|RAP1GDS1|HOXC11		AML		0				breast(4)|skin(3)|ovary(2)|central_nervous_system(1)|lung(1)|kidney(1)	12						c.(532-534)GTT>GGT		nucleoporin 98kD isoform 1							132.0	112.0	119.0					11																	3794932		2201	4298	6499	SO:0001583	missense	4928				carbohydrate metabolic process|DNA replication|glucose transport|interspecies interaction between organisms|mitotic prometaphase|mRNA transport|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nucleoplasm|Nup107-160 complex	protein binding|structural constituent of nuclear pore|transporter activity	g.chr11:3794932A>C	AF071076, AF231130, BC012906, BG773331	CCDS7746.1, CCDS31347.1, CCDS41605.1, CCDS41606.1	11p15	2008-02-26	2002-08-29		ENSG00000110713	ENSG00000110713			8068	protein-coding gene	gene with protein product		601021	"""nucleoporin 98kD"""			9166830	Standard	NM_139131		Approved	NUP96	uc001lyh.3	P52948	OTTHUMG00000011846	ENST00000324932.7:c.533T>G	11.37:g.3794932A>C	ENSP00000316032:p.Val178Gly					NUP98_uc001lyi.2_Missense_Mutation_p.V178G|NUP98_uc001lyj.1_Missense_Mutation_p.V178G|NUP98_uc001lyk.1_Missense_Mutation_p.V178G|NUP98_uc010qxv.1_Missense_Mutation_p.V141G	p.V178G	NM_016320	NP_057404	P52948	NUP98_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)	6	824	-		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)	178			Gly/Thr-rich.		Q8IUT2|Q8WYB0|Q96E54|Q9H3Q4|Q9NT02|Q9UF57|Q9UHX0|Q9Y6J4|Q9Y6J5	Missense_Mutation	SNP	ENST00000324932.7	37	c.533T>G	CCDS7746.1	.	.	.	.	.	.	.	.	.	.	A	21.7	4.189602	0.78789	.	.	ENSG00000110713	ENST00000324932;ENST00000359171;ENST00000355260;ENST00000397004;ENST00000397007	.	.	.	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	T	0.68220	0.2977	L	0.46157	1.445	0.80722	D	1	P;D;D;P;P	0.89917	0.913;1.0;0.999;0.948;0.948	B;D;D;P;P	0.85130	0.309;0.996;0.997;0.506;0.506	T	0.63668	-0.6585	9	0.21014	T	0.42	.	14.6811	0.69017	1.0:0.0:0.0:0.0	.	178;178;178;178;178	P52948;P52948-3;P52948-4;P52948-2;P52948-5	NUP98_HUMAN;.;.;.;.	G	178	.	ENSP00000316032:V178G	V	-	2	0	NUP98	3751508	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.119000	0.71590	2.151000	0.67156	0.533000	0.62120	GTT		0.378	NUP98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032766.3	NM_016320		42	21	0	0	0	0.00361	0	42	21				
OR51T1	401665	broad.mit.edu	37	11	4904000	4904000	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr11:4904000C>A	ENST00000322049.1	+	1	871	c.871C>A	c.(871-873)Cct>Act	p.P291T	MMP26_ENST00000477339.1_Intron|OR51T1_ENST00000380378.1_Missense_Mutation_p.P318T|MMP26_ENST00000380390.1_Intron			Q8NGJ9	O51T1_HUMAN	olfactory receptor, family 51, subfamily T, member 1	291						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		TGTGCTGAACCCTATCATTTA	0.512																																							uc010qyp.1		NA																	0				ovary(2)|large_intestine(1)	3						c.(952-954)CCT>ACT		olfactory receptor, family 51, subfamily T,							112.0	103.0	106.0					11																	4904000		2201	4298	6499	SO:0001583	missense	401665				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4904000C>A	BK004283	CCDS31363.1	11p15.4	2012-08-09			ENSG00000176900	ENSG00000176900		"""GPCR / Class A : Olfactory receptors"""	15205	protein-coding gene	gene with protein product							Standard	NM_001004759		Approved		uc010qyp.2	Q8NGJ9	OTTHUMG00000066507	ENST00000322049.1:c.871C>A	11.37:g.4904000C>A	ENSP00000322679:p.Pro291Thr						p.P318T	NM_001004759	NP_001004759	Q8NGJ9	O51T1_HUMAN		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	952	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	291			Helical; Name=7; (Potential).		Q6IFH9	Missense_Mutation	SNP	ENST00000322049.1	37	c.952C>A		.	.	.	.	.	.	.	.	.	.	C	20.2	3.955152	0.73902	.	.	ENSG00000176900	ENST00000380378;ENST00000322049	D;D	0.98807	-5.15;-5.15	4.97	4.97	0.65823	GPCR, rhodopsin-like superfamily (1);	0.000000	0.43747	D	0.000527	D	0.99480	0.9815	H	0.97682	4.055	0.58432	D	0.999994	D	0.89917	1.0	D	0.97110	1.0	D	0.98122	1.0426	10	0.87932	D	0	.	16.955	0.86257	0.0:1.0:0.0:0.0	.	291	Q8NGJ9	O51T1_HUMAN	T	318;291	ENSP00000369738:P318T;ENSP00000322679:P291T	ENSP00000322679:P291T	P	+	1	0	OR51T1	4860576	1.000000	0.71417	0.990000	0.47175	0.731000	0.41821	5.630000	0.67805	2.595000	0.87683	0.491000	0.48974	CCT		0.512	OR51T1-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000142180.1	NM_001004759		44	72	1	0	2.55665e-31	0.00361	3.9324e-31	44	72				
OR51B6	390058	broad.mit.edu	37	11	5372961	5372961	+	Missense_Mutation	SNP	C	C	T	rs185127545		TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr11:5372961C>T	ENST00000380219.1	+	1	224	c.224C>T	c.(223-225)aCa>aTa	p.T75I	HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA	NM_001004750.1	NP_001004750.1	Q9H340	O51B6_HUMAN	olfactory receptor, family 51, subfamily B, member 6	75					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	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(3)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	21		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACATTGACCACAATGCCCACA	0.463																																							uc010qzb.1		NA																	0				ovary(1)|skin(1)	2						c.(223-225)ACA>ATA		olfactory receptor, family 51, subfamily B,							136.0	123.0	127.0					11																	5372961		2201	4297	6498	SO:0001583	missense	390058				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5372961C>T		CCDS31379.1	11p15.4	2012-08-09			ENSG00000176239	ENSG00000176239		"""GPCR / Class A : Olfactory receptors"""	19600	protein-coding gene	gene with protein product							Standard	NM_001004750		Approved		uc010qzb.2	Q9H340	OTTHUMG00000066669	ENST00000380219.1:c.224C>T	11.37:g.5372961C>T	ENSP00000369568:p.Thr75Ile					HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc001maq.1_Intron	p.T75I	NM_001004750	NP_001004750	Q9H340	O51B6_HUMAN		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	224	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)	75			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000380219.1	37	c.224C>T	CCDS31379.1	.	.	.	.	.	.	.	.	.	.	C	16.43	3.120031	0.56613	.	.	ENSG00000176239	ENST00000537299;ENST00000380219	T	0.00123	8.7	5.15	4.24	0.50183	GPCR, rhodopsin-like superfamily (1);	0.000000	0.56097	D	0.000039	T	0.00356	0.0011	M	0.65320	2	0.30499	N	0.770607	D	0.89917	1.0	D	0.91635	0.999	T	0.45716	-0.9242	10	0.87932	D	0	.	9.6906	0.40125	0.0:0.8323:0.0:0.1677	.	75	Q9H340	O51B6_HUMAN	I	74;75	ENSP00000369568:T75I	ENSP00000369568:T75I	T	+	2	0	OR51B6	5329537	0.336000	0.24757	0.995000	0.50966	0.834000	0.47266	3.469000	0.53093	1.399000	0.46721	0.557000	0.71058	ACA		0.463	OR51B6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142960.1	NM_001004750		28	59	0	0	0	0.00632	0	28	59				
UBQLNL	143630	broad.mit.edu	37	11	5537381	5537381	+	Nonsense_Mutation	SNP	G	G	C			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr11:5537381G>C	ENST00000380184.1	-	1	554	c.291C>G	c.(289-291)taC>taG	p.Y97*	HBG2_ENST00000380259.2_Intron	NM_145053.4	NP_659490.4	Q8IYU4	UBQLN_HUMAN	ubiquilin-like	97	Ubiquitin-like. {ECO:0000255|PROSITE- ProRule:PRU00214}.									endometrium(1)|kidney(3)|large_intestine(9)|lung(13)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	33		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.136)		TGATGACCAAGTAGATGGTGT	0.537																																							uc001maz.3		NA																	0				large_intestine(2)|skin(1)	3						c.(289-291)TAC>TAG		ubiquilin-like							203.0	174.0	184.0					11																	5537381		2201	4297	6498	SO:0001587	stop_gained	143630							g.chr11:5537381G>C	AK127987	CCDS31385.1	11p15.4	2014-02-12			ENSG00000175518	ENSG00000175518		"""Ubiquilin family"""	28294	protein-coding gene	gene with protein product							Standard	NM_145053		Approved	MGC20470, MGC26958	uc001maz.4	Q8IYU4	OTTHUMG00000066903	ENST00000380184.1:c.291C>G	11.37:g.5537381G>C	ENSP00000369531:p.Tyr97*					HBG2_uc001mak.1_Intron	p.Y97*	NM_145053	NP_659490	Q8IYU4	UBQLN_HUMAN		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.136)	1	576	-		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)	97			Ubiquitin-like.		Q6ZRU1|Q96EK3|Q96MB0	Nonsense_Mutation	SNP	ENST00000380184.1	37	c.291C>G	CCDS31385.1	.	.	.	.	.	.	.	.	.	.	G	28.5	4.922044	0.92319	.	.	ENSG00000175518	ENST00000380184;ENST00000538889	.	.	.	5.61	-3.72	0.04411	.	0.292675	0.24343	N	0.039344	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	.	12.9693	0.58503	0.6838:0.0:0.3162:0.0	.	.	.	.	X	97	.	ENSP00000369531:Y97X	Y	-	3	2	UBQLNL	5493957	0.657000	0.27393	0.287000	0.24848	0.828000	0.46876	-0.395000	0.07287	-0.570000	0.06022	-0.136000	0.14681	TAC		0.537	UBQLNL-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143386.1	NM_145053		60	24	0	0	0	0.00361	0	60	24				
OR52E4	390081	broad.mit.edu	37	11	5906244	5906244	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr11:5906244C>A	ENST00000316987.2	+	1	744	c.722C>A	c.(721-723)aCc>aAc	p.T241N		NM_001005165.1	NP_001005165.1	Q8NGH9	O52E4_HUMAN	olfactory receptor, family 52, subfamily E, member 4	241						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(2)|prostate(1)|skin(2)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.24e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCCTTCAATACCTGTGGTTCT	0.403																																							uc010qzs.1		NA																	0				ovary(2)	2						c.(721-723)ACC>AAC		olfactory receptor, family 52, subfamily E,							271.0	237.0	248.0					11																	5906244		2201	4296	6497	SO:0001583	missense	390081				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5906244C>A	AB065817	CCDS31401.1	11p15.4	2012-08-09			ENSG00000180974	ENSG00000180974		"""GPCR / Class A : Olfactory receptors"""	15213	protein-coding gene	gene with protein product							Standard	NM_001005165		Approved		uc010qzs.2	Q8NGH9	OTTHUMG00000168804	ENST00000316987.2:c.722C>A	11.37:g.5906244C>A	ENSP00000321426:p.Thr241Asn					TRIM5_uc001mbq.1_Intron	p.T241N	NM_001005165	NP_001005165	Q8NGH9	O52E4_HUMAN		Epithelial(150;1.24e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	722	+		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)	241			Helical; Name=6; (Potential).		Q6IFG0	Missense_Mutation	SNP	ENST00000316987.2	37	c.722C>A	CCDS31401.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.031205	0.75504	.	.	ENSG00000180974	ENST00000316987	T	0.40476	1.03	4.88	4.88	0.63580	GPCR, rhodopsin-like superfamily (1);	0.000000	0.51477	D	0.000093	T	0.74809	0.3765	H	0.95114	3.625	0.80722	D	1	D	0.71674	0.998	D	0.76071	0.987	D	0.83379	0.0011	10	0.87932	D	0	.	16.7579	0.85505	0.0:1.0:0.0:0.0	.	241	Q8NGH9	O52E4_HUMAN	N	241	ENSP00000321426:T241N	ENSP00000321426:T241N	T	+	2	0	OR52E4	5862820	1.000000	0.71417	0.987000	0.45799	0.844000	0.47949	5.305000	0.65750	2.516000	0.84829	0.643000	0.83706	ACC		0.403	OR52E4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401146.1	NM_001005165		50	76	1	0	9.52127e-25	0.00361	1.41905e-24	50	76				
CNGA4	1262	broad.mit.edu	37	11	6260485	6260485	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr11:6260485C>A	ENST00000379936.2	+	1	164	c.49C>A	c.(49-51)Cca>Aca	p.P17T	CNGA4_ENST00000533426.1_Intron	NM_001037329.3	NP_001032406.1	Q8IV77	CNGA4_HUMAN	cyclic nucleotide gated channel alpha 4	17					phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|sensory perception of smell (GO:0007608)	integral component of plasma membrane (GO:0005887)	cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)			endometrium(2)|kidney(1)|large_intestine(9)|lung(24)|prostate(3)|skin(1)	40		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCCCCCAGCCCCATCCAAGGC	0.557																																							uc001mco.2		NA																	0				skin(1)	1						c.(49-51)CCA>ACA		cyclic nucleotide gated channel alpha 4							147.0	142.0	144.0					11																	6260485		2201	4296	6497	SO:0001583	missense	1262				response to stimulus|sensory perception of smell		cAMP binding	g.chr11:6260485C>A	AK122736	CCDS31408.1	11p15.4	2011-07-05		2002-01-18		ENSG00000132259		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2152	protein-coding gene	gene with protein product		609472	"""cyclic nucleotide gated channel beta 2"""	CNCA2, CNGB2		11764791, 16382102	Standard	NM_001037329		Approved	OCNC2, OCNCb, CNG5	uc001mco.3	Q8IV77		ENST00000379936.2:c.49C>A	11.37:g.6260485C>A	ENSP00000369268:p.Pro17Thr					CNGA4_uc010raa.1_Intron|CNGA4_uc001mcn.2_Intron	p.P17T	NM_001037329	NP_001032406	Q8IV77	CNGA4_HUMAN		Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	156	+		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)	17			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000379936.2	37	c.49C>A	CCDS31408.1	.	.	.	.	.	.	.	.	.	.	C	2.214	-0.380109	0.05000	.	.	ENSG00000132259	ENST00000379936	D	0.97553	-4.43	5.41	3.55	0.40652	.	0.853426	0.10370	N	0.682896	D	0.92004	0.7467	N	0.22421	0.69	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.82339	-0.0506	10	0.16420	T	0.52	.	6.7877	0.23682	0.1741:0.7383:0.0:0.0876	.	17	Q8IV77	CNGA4_HUMAN	T	17	ENSP00000369268:P17T	ENSP00000369268:P17T	P	+	1	0	CNGA4	6217061	0.000000	0.05858	0.147000	0.22382	0.015000	0.08874	-0.224000	0.09164	0.850000	0.35239	-0.152000	0.13540	CCA		0.557	CNGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383765.2	NM_001037329		15	39	1	0	9.16793e-09	0.00499	1.09863e-08	15	39				
SYT9	143425	broad.mit.edu	37	11	7334683	7334683	+	Silent	SNP	G	G	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr11:7334683G>A	ENST00000318881.6	+	3	792	c.555G>A	c.(553-555)caG>caA	p.Q185Q	SYT9_ENST00000396716.2_Silent_p.Q153Q	NM_175733.3	NP_783860.1	Q86SS6	SYT9_HUMAN	synaptotagmin IX	185					positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of insulin secretion (GO:0050796)	cell junction (GO:0030054)|dense core granule (GO:0031045)|integral component of membrane (GO:0016021)|secretory granule membrane (GO:0030667)|synaptic vesicle (GO:0008021)	metal ion binding (GO:0046872)|transporter activity (GO:0005215)			NS(1)|endometrium(2)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	38				Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949)		ATATCCAGCAGCTTCAAAAAC	0.393																																							uc001mfe.2		NA																	0				ovary(2)|large_intestine(1)	3						c.(553-555)CAG>CAA		synaptotagmin IX							65.0	64.0	65.0					11																	7334683		2201	4296	6497	SO:0001819	synonymous_variant	143425					cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity	g.chr11:7334683G>A	AK055003	CCDS7778.1	11p15.4	2013-01-21			ENSG00000170743	ENSG00000170743		"""Synaptotagmins"""	19265	protein-coding gene	gene with protein product		613528				11543631	Standard	NM_175733		Approved		uc001mfe.3	Q86SS6	OTTHUMG00000165499	ENST00000318881.6:c.555G>A	11.37:g.7334683G>A						SYT9_uc001mfd.2_RNA|SYT9_uc009yfi.2_Intron	p.Q185Q	NM_175733	NP_783860	Q86SS6	SYT9_HUMAN		Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949)	3	792	+			185			Cytoplasmic (Potential).			Silent	SNP	ENST00000318881.6	37	c.555G>A	CCDS7778.1																																																																																				0.393	SYT9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384483.1	NM_175733		8	57	0	0	0	0.008291	0	8	57				
LDHA	3939	broad.mit.edu	37	11	18427047	18427047	+	Silent	SNP	C	C	G			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr11:18427047C>G	ENST00000422447.3	+	7	1035	c.762C>G	c.(760-762)ctC>ctG	p.L254L	LDHA_ENST00000379412.5_Silent_p.L254L|LDHA_ENST00000542179.1_Silent_p.L254L|LDHA_ENST00000540430.1_Silent_p.L283L|AC084117.3_ENST00000496975.2_RNA|LDHA_ENST00000227157.4_Intron|LDHA_ENST00000430553.2_Silent_p.L196L|LDHA_ENST00000396222.2_Intron	NM_001135239.1|NM_005566.3	NP_001128711.1|NP_005557.1	P00338	LDHA_HUMAN	lactate dehydrogenase A	254					cellular carbohydrate metabolic process (GO:0044262)|cellular metabolic process (GO:0044237)|cellular response to extracellular stimulus (GO:0031668)|glycolytic process (GO:0006096)|pyruvate metabolic process (GO:0006090)|small molecule metabolic process (GO:0044281)|substantia nigra development (GO:0021762)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|sperm fibrous sheath (GO:0035686)	L-lactate dehydrogenase activity (GO:0004459)			central_nervous_system(3)|endometrium(1)|large_intestine(4)|lung(4)	12						CTATTGGACTCTCTGTAGCAG	0.448																																							uc001mok.3		NA																	0				central_nervous_system(3)	3						c.(760-762)CTC>CTG		lactate dehydrogenase A isoform 1	NADH(DB00157)						116.0	116.0	116.0					11																	18427047		2199	4293	6492	SO:0001819	synonymous_variant	3939				glycolysis|pyruvate metabolic process	cytosol	L-lactate dehydrogenase activity|protein binding	g.chr11:18427047C>G	X02152	CCDS7839.1, CCDS44549.1, CCDS53609.1, CCDS53610.1, CCDS53611.1	11p15.1	2012-10-02			ENSG00000134333	ENSG00000134333	1.1.1.27		6535	protein-coding gene	gene with protein product		150000				3000353	Standard	NM_005566		Approved		uc010rdd.2	P00338	OTTHUMG00000167721	ENST00000422447.3:c.762C>G	11.37:g.18427047C>G						LDHA_uc010rdc.1_Silent_p.L196L|LDHA_uc009yhn.2_Silent_p.L253L|LDHA_uc009yho.2_Silent_p.L81L|LDHA_uc001mol.3_Intron|LDHA_uc010rdd.1_Silent_p.L283L	p.L254L	NM_005566	NP_005557	P00338	LDHA_HUMAN			7	1034	+			254					B4DKQ2|B7Z5E3|D3DQY3|F8W819|Q53G53|Q6IBM7|Q6ZNV1|Q9UDE8|Q9UDE9	Silent	SNP	ENST00000422447.3	37	c.762C>G	CCDS7839.1																																																																																				0.448	LDHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258172.2	NM_005566		4	91	0	0	0	0.009096	0	4	91				
SPTY2D1	144108	broad.mit.edu	37	11	18637123	18637123	+	Missense_Mutation	SNP	G	G	C			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr11:18637123G>C	ENST00000336349.5	-	3	933	c.698C>G	c.(697-699)tCt>tGt	p.S233C	SPTY2D1_ENST00000543776.1_5'Flank	NM_194285.2	NP_919261.2	Q68D10	SPT2_HUMAN	SPT2, Suppressor of Ty, domain containing 1 (S. cerevisiae)	233										breast(4)|cervix(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|skin(1)|stomach(1)	30						TTCTTTCTGAGAGGGTGCCTT	0.443																																							uc001moy.2		NA																	0				breast(1)	1						c.(697-699)TCT>TGT		SPT2, Suppressor of Ty, domain containing 1							171.0	172.0	171.0					11																	18637123		2199	4293	6492	SO:0001583	missense	144108							g.chr11:18637123G>C	BX647798	CCDS31441.1	11p15.1	2005-10-28			ENSG00000179119	ENSG00000179119			26818	protein-coding gene	gene with protein product							Standard	NM_194285		Approved	FLJ39441, DKFZp686I068	uc001moy.3	Q68D10	OTTHUMG00000167733	ENST00000336349.5:c.698C>G	11.37:g.18637123G>C	ENSP00000337991:p.Ser233Cys					SPTY2D1_uc010rdi.1_Missense_Mutation_p.S233C	p.S233C	NM_194285	NP_919261	Q68D10	SPT2_HUMAN			3	914	-			233					Q6AWA5|Q6MZI5|Q7Z390|Q7Z470|Q86VG8|Q8N3E7|Q8N417|Q8N8I3	Missense_Mutation	SNP	ENST00000336349.5	37	c.698C>G	CCDS31441.1	.	.	.	.	.	.	.	.	.	.	G	14.74	2.625707	0.46840	.	.	ENSG00000179119	ENST00000336349;ENST00000333429	T	0.31247	1.5	5.85	1.88	0.25563	.	0.552015	0.20487	N	0.091367	T	0.20129	0.0484	L	0.34521	1.04	0.20307	N	0.999915	B	0.11235	0.004	B	0.12156	0.007	T	0.17198	-1.0377	10	0.48119	T	0.1	0.1652	5.7128	0.17945	0.2844:0.1304:0.5852:0.0	.	233	Q68D10	SPT2_HUMAN	C	233	ENSP00000337991:S233C	ENSP00000331447:S233C	S	-	2	0	SPTY2D1	18593699	0.978000	0.34361	0.989000	0.46669	0.997000	0.91878	1.766000	0.38491	0.089000	0.17243	0.563000	0.77884	TCT		0.443	SPTY2D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395941.1	NM_194285		24	113	0	0	0	0.007291	0	24	113				
KCNA4	3739	broad.mit.edu	37	11	30032313	30032313	+	Missense_Mutation	SNP	G	G	C			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr11:30032313G>C	ENST00000328224.6	-	2	3146	c.1913C>G	c.(1912-1914)aCa>aGa	p.T638R	KCNA4_ENST00000526518.1_5'Flank	NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	638					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	potassium ion binding (GO:0030955)|voltage-gated potassium channel activity (GO:0005249)			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78					Dalfampridine(DB06637)	GTTTTTATCTGTCTCACTGTC	0.458																																							uc001msk.2		NA																	0				ovary(2)|central_nervous_system(1)|pancreas(1)	4						c.(1912-1914)ACA>AGA		potassium voltage-gated channel, shaker-related							124.0	127.0	126.0					11																	30032313		1963	4148	6111	SO:0001583	missense	3739					voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity	g.chr11:30032313G>C	M55514	CCDS41629.1	11p14	2012-07-05	2002-07-10			ENSG00000182255		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6222	protein-coding gene	gene with protein product		176266	"""potassium voltage-gated channel, shaker-related subfamily, member 4-like"""	KCNA4L		2263489, 16382104	Standard	NM_002233		Approved	Kv1.4, HK1, HPCN2	uc001msk.3	P22459		ENST00000328224.6:c.1913C>G	11.37:g.30032313G>C	ENSP00000328511:p.Thr638Arg						p.T638R	NM_002233	NP_002224	P22459	KCNA4_HUMAN			2	3065	-			638						Missense_Mutation	SNP	ENST00000328224.6	37	c.1913C>G	CCDS41629.1	.	.	.	.	.	.	.	.	.	.	G	11.49	1.654152	0.29425	.	.	ENSG00000182255	ENST00000328224	D	0.96685	-4.09	5.7	5.7	0.88788	.	0.390699	0.27455	N	0.019299	D	0.92570	0.7640	L	0.29908	0.895	0.36712	D	0.880702	B	0.33919	0.432	B	0.26517	0.07	D	0.92133	0.5714	10	0.23891	T	0.37	.	19.8411	0.96685	0.0:0.0:1.0:0.0	.	638	P22459	KCNA4_HUMAN	R	638	ENSP00000328511:T638R	ENSP00000328511:T638R	T	-	2	0	KCNA4	29988889	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.478000	0.60230	2.683000	0.91414	0.655000	0.94253	ACA		0.458	KCNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388074.2	NM_002233		32	71	0	0	0	0.004878	0	32	71				
PAX6	5080	broad.mit.edu	37	11	31824340	31824340	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr11:31824340C>A	ENST00000379132.3	-	4	333	c.53G>T	c.(52-54)gGg>gTg	p.G18V	PAX6_ENST00000533156.1_5'UTR|PAX6_ENST00000241001.8_Missense_Mutation_p.G18V|PAX6_ENST00000379107.2_Missense_Mutation_p.G18V|PAX6_ENST00000379115.4_Missense_Mutation_p.G18V|PAX6_ENST00000419022.1_Missense_Mutation_p.G18V|PAX6_ENST00000379111.2_Missense_Mutation_p.G18V|PAX6_ENST00000379129.2_Missense_Mutation_p.G18V|PAX6_ENST00000379123.5_Missense_Mutation_p.G18V			P26367	PAX6_HUMAN	paired box 6	18	Paired. {ECO:0000255|PROSITE- ProRule:PRU00381}.		G -> W (in AN). {ECO:0000269|PubMed:9792406}.		astrocyte differentiation (GO:0048708)|axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell fate determination (GO:0001709)|central nervous system development (GO:0007417)|cerebral cortex regionalization (GO:0021796)|commitment of neuronal cell to specific neuron type in forebrain (GO:0021902)|cornea development in camera-type eye (GO:0061303)|dorsal/ventral axis specification (GO:0009950)|embryonic camera-type eye morphogenesis (GO:0048596)|eye development (GO:0001654)|eye photoreceptor cell development (GO:0042462)|forebrain anterior/posterior pattern specification (GO:0021797)|forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain-midbrain boundary formation (GO:0021905)|glucose homeostasis (GO:0042593)|hindbrain development (GO:0030902)|iris morphogenesis (GO:0061072)|keratinocyte differentiation (GO:0030216)|lacrimal gland development (GO:0032808)|lens development in camera-type eye (GO:0002088)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron differentiation (GO:0045665)|neuron fate commitment (GO:0048663)|neuron migration (GO:0001764)|oligodendrocyte cell fate specification (GO:0021778)|organ morphogenesis (GO:0009887)|pancreatic A cell development (GO:0003322)|pituitary gland development (GO:0021983)|positive regulation of cell fate specification (GO:0042660)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of gene expression (GO:0010628)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to organelle (GO:0033365)|protein ubiquitination (GO:0016567)|regulation of cell migration (GO:0030334)|regulation of timing of cell differentiation (GO:0048505)|regulation of transcription from RNA polymerase II promoter involved in somatic motor neuron fate commitment (GO:0021918)|regulation of transcription from RNA polymerase II promoter involved in spinal cord motor neuron fate specification (GO:0021912)|regulation of transcription from RNA polymerase II promoter involved in ventral spinal cord interneuron specification (GO:0021913)|response to wounding (GO:0009611)|retina development in camera-type eye (GO:0060041)|salivary gland morphogenesis (GO:0007435)|signal transduction involved in regulation of gene expression (GO:0023019)|smoothened signaling pathway (GO:0007224)|transcription from RNA polymerase II promoter (GO:0006366)|type B pancreatic cell differentiation (GO:0003309)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|histone acetyltransferase binding (GO:0035035)|protein kinase binding (GO:0019901)|R-SMAD binding (GO:0070412)|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)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|ubiquitin-protein transferase activity (GO:0004842)			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)	35	Lung SC(675;0.225)					CAGTGGCCGCCCGTTGACAAA	0.587									Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation																														uc001mtd.3		NA																	0				lung(4)|ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	9						c.(52-54)GGG>GTG		paired box gene 6 isoform a							28.0	30.0	29.0					11																	31824340		2202	4299	6501	SO:0001583	missense	5080	Wilms_tumor-Aniridia-ambiguous_Genitals-mental_Retardation	Familial Cancer Database	WAGR syndrome	blood vessel development|central nervous system development|cornea development in camera-type eye|glucose homeostasis|iris morphogenesis|negative regulation of neurogenesis|neuron fate commitment|pancreatic A cell development|positive regulation of transcription, DNA-dependent|response to wounding|visual perception	cytoplasm|nuclear chromatin	R-SMAD binding|RNA polymerase II core promoter sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity|ubiquitin-protein ligase activity	g.chr11:31824340C>A	AY707088	CCDS31451.1, CCDS31452.1	11p13	2014-09-17	2007-07-12		ENSG00000007372	ENSG00000007372		"""Paired boxes"", ""Homeoboxes / PRD class"""	8620	protein-coding gene	gene with protein product	"""aniridia, keratitis"""	607108	"""paired box gene 6 (aniridia, keratitis)"""	AN2		1302030	Standard	NM_001127612		Approved	D11S812E, AN, WAGR	uc021qfm.1	P26367	OTTHUMG00000041447	ENST00000379132.3:c.53G>T	11.37:g.31824340C>A	ENSP00000368427:p.Gly18Val					PAX6_uc001mte.3_Missense_Mutation_p.G18V|PAX6_uc001mtg.3_Missense_Mutation_p.G18V|PAX6_uc001mtf.3_Missense_Mutation_p.G18V|PAX6_uc001mth.3_Missense_Mutation_p.G18V|PAX6_uc009yjr.2_Missense_Mutation_p.G18V	p.G18V	NM_001127612	NP_001121084	P26367	PAX6_HUMAN			4	943	-	Lung SC(675;0.225)		18		G -> W (in AN).	Paired.		Q6N006|Q99413	Missense_Mutation	SNP	ENST00000379132.3	37	c.53G>T	CCDS31451.1	.	.	.	.	.	.	.	.	.	.	c	20.2	3.952705	0.73787	.	.	ENSG00000007372	ENST00000419022;ENST00000379132;ENST00000379129;ENST00000379107;ENST00000241001;ENST00000379115;ENST00000379111;ENST00000379123;ENST00000379109;ENST00000455099;ENST00000524853;ENST00000423822;ENST00000438681	D;D;D;D;D;D;D;D;D;D;D;D;D	0.99745	-6.61;-6.61;-6.61;-6.61;-6.61;-6.61;-6.61;-6.61;-6.61;-6.61;-6.61;-6.61;-6.61	4.48	3.57	0.40892	Paired box protein, N-terminal (4);Winged helix-turn-helix transcription repressor DNA-binding (1);Homeodomain-like (1);	0.104471	0.64402	D	0.000003	D	0.99778	0.9908	H	0.96333	3.805	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97400	0.9995	10	0.87932	D	0	.	12.2829	0.54774	0.0:0.9172:0.0:0.0828	.	18;18	F1T0F8;P26367	.;PAX6_HUMAN	V	18	ENSP00000404100:G18V;ENSP00000368427:G18V;ENSP00000368424:G18V;ENSP00000368401:G18V;ENSP00000241001:G18V;ENSP00000368410:G18V;ENSP00000368406:G18V;ENSP00000368418:G18V;ENSP00000368403:G18V;ENSP00000397384:G18V;ENSP00000431585:G18V;ENSP00000388132:G18V;ENSP00000404356:G18V	ENSP00000241001:G18V	G	-	2	0	PAX6	31780916	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.457000	0.80775	1.105000	0.41606	0.450000	0.29827	GGG		0.587	PAX6-008	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000099293.4	NM_001604		16	21	1	0	2.89027e-11	0.002299	3.64535e-11	16	21				
TRAF6	7189	broad.mit.edu	37	11	36511633	36511633	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr11:36511633C>A	ENST00000526995.1	-	7	1570	c.1324G>T	c.(1324-1326)Gta>Tta	p.V442L	TRAF6_ENST00000529150.1_5'Flank|TRAF6_ENST00000348124.5_Missense_Mutation_p.V442L	NM_004620.3	NP_004611.1	Q9Y4K3	TRAF6_HUMAN	TNF receptor-associated factor 6, E3 ubiquitin protein ligase	442	MATH. {ECO:0000255|PROSITE- ProRule:PRU00129}.				activation of MAPK activity (GO:0000187)|activation of NF-kappaB-inducing kinase activity (GO:0007250)|activation of protein kinase activity (GO:0032147)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|apoptotic signaling pathway (GO:0097190)|bone resorption (GO:0045453)|cell development (GO:0048468)|cellular response to lipopolysaccharide (GO:0071222)|Fc-epsilon receptor signaling pathway (GO:0038095)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|interleukin-1-mediated signaling pathway (GO:0070498)|JNK cascade (GO:0007254)|membrane protein intracellular domain proteolysis (GO:0031293)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|odontogenesis of dentin-containing tooth (GO:0042475)|ossification (GO:0001503)|osteoclast differentiation (GO:0030316)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-6 biosynthetic process (GO:0045410)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell cytokine production (GO:0002726)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|protein autoubiquitination (GO:0051865)|protein complex assembly (GO:0006461)|protein K63-linked ubiquitination (GO:0070534)|protein polyubiquitination (GO:0000209)|regulation of immunoglobulin secretion (GO:0051023)|response to interleukin-1 (GO:0070555)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|T-helper 1 type immune response (GO:0042088)|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)	CD40 receptor complex (GO:0035631)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|lipid particle (GO:0005811)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	histone deacetylase binding (GO:0042826)|ligase activity (GO:0016874)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein kinase B binding (GO:0043422)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|signal transducer activity (GO:0004871)|thioesterase binding (GO:0031996)|tumor necrosis factor receptor binding (GO:0005164)|ubiquitin conjugating enzyme binding (GO:0031624)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)	27	all_lung(20;0.211)	all_hematologic(20;0.107)				TTTTGCCTTACAGGTGCTTCA	0.483																																							uc001mwr.1		NA																	0				ovary(1)	1						c.(1324-1326)GTA>TTA		TNF receptor-associated factor 6							100.0	90.0	93.0					11																	36511633		2202	4298	6500	SO:0001583	missense	7189				activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|ossification|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of osteoclast differentiation|positive regulation of T cell cytokine production|protein autoubiquitination|protein K63-linked ubiquitination|response to interleukin-1|stress-activated MAPK cascade|T cell receptor signaling pathway|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	CD40 receptor complex|cell cortex|cytosol|endosome membrane|internal side of plasma membrane|nuclear membrane	histone deacetylase binding|mitogen-activated protein kinase kinase kinase binding|protein kinase B binding|protein N-terminus binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr11:36511633C>A		CCDS7901.1	11p12	2013-01-09	2012-02-23		ENSG00000175104	ENSG00000175104		"""RING-type (C3HC4) zinc fingers"""	12036	protein-coding gene	gene with protein product		602355	"""TNF receptor-associated factor 6"""			8837778	Standard	NM_004620		Approved	RNF85	uc001mws.2	Q9Y4K3	OTTHUMG00000166391	ENST00000526995.1:c.1324G>T	11.37:g.36511633C>A	ENSP00000433623:p.Val442Leu					uc001mwq.1_5'Flank|TRAF6_uc001mws.1_Missense_Mutation_p.V442L	p.V442L	NM_145803	NP_665802	Q9Y4K3	TRAF6_HUMAN			8	1664	-	all_lung(20;0.211)	all_hematologic(20;0.107)	442			MATH.		A6NKI7|A8KAB3|D3DR16|Q8NEH5	Missense_Mutation	SNP	ENST00000526995.1	37	c.1324G>T	CCDS7901.1	.	.	.	.	.	.	.	.	.	.	C	10.75	1.437073	0.25900	.	.	ENSG00000175104	ENST00000526995;ENST00000348124	T;T	0.42131	0.98;0.98	5.46	-8.81	0.00813	TRAF-type (1);TRAF-like (1);MATH (3);	1.183370	0.06027	N	0.652441	T	0.22475	0.0542	N	0.12182	0.205	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.25984	-1.0116	10	0.27785	T	0.31	-0.5521	14.0136	0.64511	0.0:0.7251:0.1717:0.1032	.	442	Q9Y4K3	TRAF6_HUMAN	L	442	ENSP00000433623:V442L;ENSP00000337853:V442L	ENSP00000337853:V442L	V	-	1	0	TRAF6	36468209	0.000000	0.05858	0.000000	0.03702	0.795000	0.44927	-0.126000	0.10563	-1.983000	0.00987	-0.266000	0.10368	GTA		0.483	TRAF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389530.1	NM_145803		21	24	1	0	3.8784e-16	0.001882	5.30259e-16	21	24				
RAG1	5896	broad.mit.edu	37	11	36597395	36597395	+	Silent	SNP	A	A	G			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr11:36597395A>G	ENST00000299440.5	+	2	2653	c.2541A>G	c.(2539-2541)aaA>aaG	p.K847K		NM_000448.2	NP_000439	P15918	RAG1_HUMAN	recombination activating gene 1	847					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|DNA recombination (GO:0006310)|histone monoubiquitination (GO:0010390)|immune response (GO:0006955)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of thymocyte apoptotic process (GO:0070244)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|pre-B cell allelic exclusion (GO:0002331)|protein autoubiquitination (GO:0051865)|regulation of T cell differentiation (GO:0045580)|T cell differentiation in thymus (GO:0033077)|T cell homeostasis (GO:0043029)|thymus development (GO:0048538)|V(D)J recombination (GO:0033151)	nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|histone binding (GO:0042393)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding (GO:0043565)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	all_lung(20;0.226)	all_hematologic(20;0.107)				TGAACCTCAAACCAATCATGA	0.478									Familial Hemophagocytic Lymphohistiocytosis																												Pancreas(43;321 1249 3212 48200)|Esophageal Squamous(38;49 1003 17530 24363)	Pancreas(43;321 1249 3212 48200)|Esophageal Squamous(38;49 1003 17530 24363)	uc001mwu.3		NA																	0				ovary(1)|pancreas(1)|lung(1)|kidney(1)|skin(1)	5						c.(2539-2541)AAA>AAG		recombination activating gene 1							85.0	82.0	83.0					11																	36597395		2202	4298	6500	SO:0001819	synonymous_variant	5896	Familial_Hemophagocytic_Lymphohistiocytosis	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr11:36597395A>G	M29474	CCDS7902.1	11p13	2014-09-17				ENSG00000166349		"""RING-type (C3HC4) zinc fingers"""	9831	protein-coding gene	gene with protein product	"""recombination activating protein 1"", ""RING finger protein 74"", ""V(D)J recombination-activating protein 1"""	179615				1612612, 1283330	Standard	NM_000448		Approved	RNF74, MGC43321	uc001mwu.4	P15918		ENST00000299440.5:c.2541A>G	11.37:g.36597395A>G						RAG1_uc001mwt.2_RNA	p.K847K	NM_000448	NP_000439	P15918	RAG1_HUMAN			2	2665	+	all_lung(20;0.226)	all_hematologic(20;0.107)	847					E9PPC4|Q8IY72|Q8NER2	Silent	SNP	ENST00000299440.5	37	c.2541A>G	CCDS7902.1																																																																																				0.478	RAG1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389535.1	NM_000448		8	44	0	0	0	0.006214	0	8	44				
EXT2	2132	broad.mit.edu	37	11	44265763	44265763	+	Nonsense_Mutation	SNP	C	C	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr11:44265763C>T	ENST00000343631.3	+	14	2212	c.2083C>T	c.(2083-2085)Cga>Tga	p.R695*	EXT2_ENST00000533608.1_Nonsense_Mutation_p.R695*|EXT2_ENST00000395673.3_Nonsense_Mutation_p.R728*|EXT2_ENST00000358681.4_Nonsense_Mutation_p.R705*			Q93063	EXT2_HUMAN	exostosin glycosyltransferase 2	695					carbohydrate metabolic process (GO:0005975)|cell differentiation (GO:0030154)|cellular polysaccharide biosynthetic process (GO:0033692)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0015014)|mesoderm formation (GO:0001707)|ossification (GO:0001503)|protein glycosylation (GO:0006486)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)|membrane (GO:0016020)	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity (GO:0050508)|glucuronosyltransferase activity (GO:0015020)|heparan sulfate N-acetylglucosaminyltransferase activity (GO:0042328)|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity (GO:0050509)|protein heterodimerization activity (GO:0046982)|transferase activity, transferring glycosyl groups (GO:0016757)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|lung(17)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	32						GGTGGAACACCGAGCTGACCC	0.517			"""Mis, N, F, S"""			"""exostoses, osteosarcoma"""			Hereditary Multiple Exostoses																														uc001mxz.2		NA	yes	Rec		Multiple Exostoses Type 2	11	11p12-p11	2132	Mis|N|F|S	multiple exostoses type 2 gene			M		exostoses|osteosarcoma			0				lung(2)|breast(2)|skin(1)	5						c.(2083-2085)CGA>TGA		exostosin 2 isoform 2							129.0	116.0	120.0					11																	44265763		2203	4299	6502	SO:0001587	stop_gained	2132	Hereditary_Multiple_Exostoses	Familial Cancer Database	HME, Hereditary Exostoses, Multiple Osteochondromatosis, Multiple Cartilaginous Exostoses	glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction	Golgi membrane|integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity	g.chr11:44265763C>T		CCDS7908.1, CCDS53618.1, CCDS53619.1	11p12-p11	2014-09-17	2013-03-01		ENSG00000151348	ENSG00000151348	2.4.1.224, 2.4.1.225	"""Exostosin glycosyltransferase family"""	3513	protein-coding gene	gene with protein product	"""Glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase"", ""N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase"""	608210	"""exostoses (multiple) 2"", ""exostosin 2"""			8162019, 9576285	Standard	NM_000401		Approved	SOTV	uc001mya.3	Q93063	OTTHUMG00000166498	ENST00000343631.3:c.2083C>T	11.37:g.44265763C>T	ENSP00000342656:p.Arg695*					EXT2_uc010rfo.1_Nonsense_Mutation_p.R723*|EXT2_uc001mxy.2_Nonsense_Mutation_p.R708*|EXT2_uc009ykt.2_Nonsense_Mutation_p.R705*|EXT2_uc001mya.2_Nonsense_Mutation_p.R728*	p.R695*	NM_207122	NP_997005	Q93063	EXT2_HUMAN			14	2417	+			695			Lumenal (Potential).		B2R5Z6|C9JU51|J3KPT2|O15288	Nonsense_Mutation	SNP	ENST00000343631.3	37	c.2083C>T	CCDS7908.1	.	.	.	.	.	.	.	.	.	.	C	38	6.734729	0.97801	.	.	ENSG00000151348	ENST00000533608;ENST00000358681;ENST00000395673;ENST00000343631	.	.	.	5.52	2.53	0.30540	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.0569	9.6364	0.39811	0.2201:0.7118:0.0:0.0681	.	.	.	.	X	695;705;728;695	.	ENSP00000342656:R695X	R	+	1	2	EXT2	44222339	1.000000	0.71417	0.943000	0.38184	0.719000	0.41307	6.068000	0.71201	0.243000	0.21327	0.655000	0.94253	CGA		0.517	EXT2-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390074.1	NM_000401		5	99	0	0	0	0.001168	0	5	99				
SYT13	57586	broad.mit.edu	37	11	45274040	45274040	+	Missense_Mutation	SNP	G	G	C			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr11:45274040G>C	ENST00000020926.3	-	4	889	c.778C>G	c.(778-780)Ctg>Gtg	p.L260V	CTD-2560E9.5_ENST00000531663.1_RNA|CTD-2560E9.5_ENST00000534342.1_RNA	NM_001247987.1|NM_020826.2	NP_001234916.1|NP_065877.1	Q7L8C5	SYT13_HUMAN	synaptotagmin XIII	260					vesicle-mediated transport (GO:0016192)	integral component of plasma membrane (GO:0005887)|transport vesicle (GO:0030133)				breast(1)|large_intestine(3)|lung(16)|ovary(1)|skin(2)	23						TCCAGGCCCAGGCGGAGCTCC	0.657											OREG0020928	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc001myq.2		NA																	0				ovary(1)	1						c.(778-780)CTG>GTG		synaptotagmin XIII							48.0	49.0	49.0					11																	45274040		2203	4299	6502	SO:0001583	missense	57586					transport vesicle		g.chr11:45274040G>C	AB037848	CCDS31470.1	11p12-p11	2013-01-21			ENSG00000019505	ENSG00000019505		"""Synaptotagmins"""	14962	protein-coding gene	gene with protein product		607716				11171101	Standard	NM_020826		Approved	KIAA1427	uc001myq.2	Q7L8C5	OTTHUMG00000166504	ENST00000020926.3:c.778C>G	11.37:g.45274040G>C	ENSP00000020926:p.Leu260Val		OREG0020928	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	930	SYT13_uc009yku.1_Missense_Mutation_p.L116V	p.L260V	NM_020826	NP_065877	Q7L8C5	SYT13_HUMAN			4	904	-			260			Cytoplasmic (Potential).		A8K4P4|D3DQP1|Q9BQS3|Q9H041|Q9P2C0	Missense_Mutation	SNP	ENST00000020926.3	37	c.778C>G	CCDS31470.1	.	.	.	.	.	.	.	.	.	.	G	8.591	0.884585	0.17467	.	.	ENSG00000019505	ENST00000020926	T	0.10860	2.83	5.85	2.98	0.34508	C2 calcium/lipid-binding domain, CaLB (1);	0.078342	0.52532	D	0.000074	T	0.07098	0.0180	L	0.27053	0.805	0.40749	D	0.982909	B	0.29988	0.264	B	0.31495	0.131	T	0.17349	-1.0372	10	0.07644	T	0.81	.	11.3076	0.49345	0.1982:0.0:0.8018:0.0	.	260	Q7L8C5	SYT13_HUMAN	V	260	ENSP00000020926:L260V	ENSP00000020926:L260V	L	-	1	2	SYT13	45230616	1.000000	0.71417	1.000000	0.80357	0.325000	0.28411	2.149000	0.42244	0.824000	0.34613	0.561000	0.74099	CTG		0.657	SYT13-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390110.1	NM_020826		18	60	0	0	0	0.008871	0	18	60				
OR5L2	26338	broad.mit.edu	37	11	55595525	55595525	+	Missense_Mutation	SNP	C	C	G			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr11:55595525C>G	ENST00000378397.1	+	1	831	c.831C>G	c.(829-831)ttC>ttG	p.F277L		NM_001004739.1	NP_001004739.1	Q8NGL0	OR5L2_HUMAN	olfactory receptor, family 5, subfamily L, member 2	277						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(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	59		all_epithelial(135;0.208)				CCACCGTGTTCTACACAGTTG	0.468										HNSCC(27;0.073)																													uc001nhy.1		NA																	0				ovary(1)	1						c.(829-831)TTC>TTG		olfactory receptor, family 5, subfamily L,							77.0	72.0	74.0					11																	55595525		2200	4296	6496	SO:0001583	missense	26338				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55595525C>G	AB065782	CCDS31511.1	11q11	2012-08-09			ENSG00000205030	ENSG00000205030		"""GPCR / Class A : Olfactory receptors"""	8351	protein-coding gene	gene with protein product						1370859	Standard	NM_001004739		Approved	HTPCRX16, HSHTPCRX16	uc001nhy.1	Q8NGL0	OTTHUMG00000166812	ENST00000378397.1:c.831C>G	11.37:g.55595525C>G	ENSP00000367650:p.Phe277Leu	HNSCC(27;0.073)					p.F277L	NM_001004739	NP_001004739	Q8NGL0	OR5L2_HUMAN			1	831	+		all_epithelial(135;0.208)	277			Helical; Name=7; (Potential).		Q6IF66|Q96RB2	Missense_Mutation	SNP	ENST00000378397.1	37	c.831C>G	CCDS31511.1	.	.	.	.	.	.	.	.	.	.	.	16.36	3.100585	0.56183	.	.	ENSG00000205030	ENST00000378397	T	0.00032	8.88	5.1	4.17	0.49024	GPCR, rhodopsin-like superfamily (1);	0.000000	0.53938	D	0.000042	T	0.00210	0.0006	L	0.48935	1.535	0.36950	D	0.892839	P	0.41131	0.739	P	0.47134	0.539	D	0.83738	0.0202	10	0.66056	D	0.02	-74.2804	8.408	0.32627	0.1559:0.7598:0.0:0.0843	.	277	Q8NGL0	OR5L2_HUMAN	L	277	ENSP00000367650:F277L	ENSP00000367650:F277L	F	+	3	2	OR5L2	55352101	0.001000	0.12720	1.000000	0.80357	0.508000	0.34012	-1.235000	0.02928	2.548000	0.85928	0.536000	0.68110	TTC		0.468	OR5L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391516.1	NM_001004739		7	49	0	0	0	0.001984	0	7	49				
OR10AG1	282770	broad.mit.edu	37	11	55735431	55735431	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr11:55735431C>A	ENST00000312345.2	-	1	559	c.509G>T	c.(508-510)tGt>tTt	p.C170F		NM_001005491.1	NP_001005491.1	Q8NH19	O10AG_HUMAN	olfactory receptor, family 10, subfamily AG, member 1	170						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(24)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	40	Esophageal squamous(21;0.0137)					CGGGATGTCACAAAAGAAATG	0.408																																							uc010rit.1		NA																	0				skin(2)	2						c.(508-510)TGT>TTT		olfactory receptor, family 10, subfamily AG,							78.0	76.0	76.0					11																	55735431		2201	4296	6497	SO:0001583	missense	282770				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55735431C>A	AB065594	CCDS31514.1	11q11	2012-08-09			ENSG00000174970	ENSG00000174970		"""GPCR / Class A : Olfactory receptors"""	19607	protein-coding gene	gene with protein product							Standard	NM_001005491		Approved		uc010rit.2	Q8NH19	OTTHUMG00000166824	ENST00000312345.2:c.509G>T	11.37:g.55735431C>A	ENSP00000311477:p.Cys170Phe						p.C170F	NM_001005491	NP_001005491	Q8NH19	O10AG_HUMAN			1	509	-	Esophageal squamous(21;0.0137)		170			Extracellular (Potential).		B2RNH4|Q6IEU3	Missense_Mutation	SNP	ENST00000312345.2	37	c.509G>T	CCDS31514.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.195883	0.78902	.	.	ENSG00000174970	ENST00000312345	T	0.62639	0.01	5.37	5.37	0.77165	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000010	D	0.87509	0.6195	H	0.98594	4.275	0.53688	D	0.999972	D	0.89917	1.0	D	0.87578	0.998	D	0.92199	0.5766	10	0.87932	D	0	.	16.768	0.85528	0.0:1.0:0.0:0.0	.	170	Q8NH19	O10AG_HUMAN	F	170	ENSP00000311477:C170F	ENSP00000311477:C170F	C	-	2	0	OR10AG1	55492007	1.000000	0.71417	1.000000	0.80357	0.862000	0.49288	6.928000	0.75846	2.569000	0.86673	0.477000	0.44152	TGT		0.408	OR10AG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391531.1	NM_001005491		10	39	1	0	6.42651e-13	0.000978	8.33464e-13	10	39				
OR5F1	338674	broad.mit.edu	37	11	55761839	55761839	+	Missense_Mutation	SNP	T	T	C			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr11:55761839T>C	ENST00000278409.1	-	1	262	c.263A>G	c.(262-264)gAg>gGg	p.E88G		NM_003697.1	NP_003688.1	O95221	OR5F1_HUMAN	olfactory receptor, family 5, subfamily F, member 1	88					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	58	Esophageal squamous(21;0.00448)					GGTTTTCTTCTCTGATAATAA	0.448																																							uc010riv.1		NA																	0				ovary(1)|pancreas(1)	2						c.(262-264)GAG>GGG		olfactory receptor, family 5, subfamily F,							69.0	67.0	68.0					11																	55761839		2201	4296	6497	SO:0001583	missense	338674				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55761839T>C	AF065863	CCDS31515.1	11q11	2012-08-09			ENSG00000149133	ENSG00000149133		"""GPCR / Class A : Olfactory receptors"""	8343	protein-coding gene	gene with protein product		608492				9787077	Standard	NM_003697		Approved	OR11-10	uc010riv.2	O95221	OTTHUMG00000166825	ENST00000278409.1:c.263A>G	11.37:g.55761839T>C	ENSP00000278409:p.Glu88Gly						p.E88G	NM_003697	NP_003688	O95221	OR5F1_HUMAN			1	263	-	Esophageal squamous(21;0.00448)		88			Extracellular (Potential).		Q495D1|Q6IFB9	Missense_Mutation	SNP	ENST00000278409.1	37	c.263A>G	CCDS31515.1	.	.	.	.	.	.	.	.	.	.	T	5.437	0.265809	0.10294	.	.	ENSG00000149133	ENST00000278409	T	0.01335	5.0	3.03	3.03	0.35002	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.01124	0.0037	N	0.17838	0.53	0.09310	N	1	B	0.19200	0.034	B	0.21917	0.037	T	0.48875	-0.8996	9	0.15499	T	0.54	.	5.833	0.18590	0.0:0.1313:0.0:0.8687	.	88	O95221	OR5F1_HUMAN	G	88	ENSP00000278409:E88G	ENSP00000278409:E88G	E	-	2	0	OR5F1	55518415	0.000000	0.05858	0.321000	0.25320	0.483000	0.33249	-0.141000	0.10327	1.167000	0.42706	0.247000	0.18012	GAG		0.448	OR5F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391532.1	NM_003697		16	57	0	0	0	0.006122	0	16	57				
OR8I2	120586	broad.mit.edu	37	11	55860955	55860955	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr11:55860955C>A	ENST00000302124.2	+	1	203	c.172C>A	c.(172-174)Cct>Act	p.P58T		NM_001003750.1	NP_001003750.1	Q8N0Y5	OR8I2_HUMAN	olfactory receptor, family 8, subfamily I, member 2	58						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	53	Esophageal squamous(21;0.00693)					GCTTCACACCCCTATGTACTT	0.378																																							uc010rix.1		NA																	0				breast(1)	1						c.(172-174)CCT>ACT		olfactory receptor, family 8, subfamily I,							249.0	239.0	243.0					11																	55860955		2201	4296	6497	SO:0001583	missense	120586				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55860955C>A	AB065656	CCDS31517.1	11q11	2012-08-09			ENSG00000172154	ENSG00000172154		"""GPCR / Class A : Olfactory receptors"""	15310	protein-coding gene	gene with protein product							Standard	NM_001003750		Approved		uc010rix.2	Q8N0Y5	OTTHUMG00000166831	ENST00000302124.2:c.172C>A	11.37:g.55860955C>A	ENSP00000303864:p.Pro58Thr						p.P58T	NM_001003750	NP_001003750	Q8N0Y5	OR8I2_HUMAN			1	172	+	Esophageal squamous(21;0.00693)		58			Helical; Name=2; (Potential).		B2RNN4|Q6IFC0|Q96RC5	Missense_Mutation	SNP	ENST00000302124.2	37	c.172C>A	CCDS31517.1	.	.	.	.	.	.	.	.	.	.	C	15.08	2.727545	0.48833	.	.	ENSG00000172154	ENST00000302124	T	0.02032	4.49	4.5	4.5	0.54988	GPCR, rhodopsin-like superfamily (1);	0.000000	0.40144	U	0.001169	T	0.23133	0.0559	H	0.97682	4.055	0.53005	D	0.999962	D	0.89917	1.0	D	0.91635	0.999	T	0.46148	-0.9212	10	0.72032	D	0.01	-14.4039	16.5902	0.84763	0.0:1.0:0.0:0.0	.	58	Q8N0Y5	OR8I2_HUMAN	T	58	ENSP00000303864:P58T	ENSP00000303864:P58T	P	+	1	0	OR8I2	55617531	0.994000	0.37717	0.630000	0.29268	0.025000	0.11179	3.369000	0.52365	2.225000	0.72522	0.440000	0.28878	CCT		0.378	OR8I2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001003750		68	112	1	0	3.27973e-32	0.00361	5.06775e-32	68	112				
OR8I2	120586	broad.mit.edu	37	11	55861147	55861147	+	Missense_Mutation	SNP	C	C	A	rs561919245		TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr11:55861147C>A	ENST00000302124.2	+	1	395	c.364C>A	c.(364-366)Cgc>Agc	p.R122S		NM_001003750.1	NP_001003750.1	Q8N0Y5	OR8I2_HUMAN	olfactory receptor, family 8, subfamily I, member 2	122						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	53	Esophageal squamous(21;0.00693)					GGCCTACAATCGCTACATAGC	0.433																																							uc010rix.1		NA																	0				breast(1)	1						c.(364-366)CGC>AGC		olfactory receptor, family 8, subfamily I,							155.0	138.0	144.0					11																	55861147		2201	4296	6497	SO:0001583	missense	120586				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55861147C>A	AB065656	CCDS31517.1	11q11	2012-08-09			ENSG00000172154	ENSG00000172154		"""GPCR / Class A : Olfactory receptors"""	15310	protein-coding gene	gene with protein product							Standard	NM_001003750		Approved		uc010rix.2	Q8N0Y5	OTTHUMG00000166831	ENST00000302124.2:c.364C>A	11.37:g.55861147C>A	ENSP00000303864:p.Arg122Ser						p.R122S	NM_001003750	NP_001003750	Q8N0Y5	OR8I2_HUMAN			1	364	+	Esophageal squamous(21;0.00693)		122			Cytoplasmic (Potential).		B2RNN4|Q6IFC0|Q96RC5	Missense_Mutation	SNP	ENST00000302124.2	37	c.364C>A	CCDS31517.1	.	.	.	.	.	.	.	.	.	.	C	10.68	1.419766	0.25552	.	.	ENSG00000172154	ENST00000302124	T	0.77620	-1.11	4.5	1.53	0.23141	GPCR, rhodopsin-like superfamily (1);	0.000000	0.40728	U	0.001035	D	0.84660	0.5521	H	0.96489	3.83	0.33394	D	0.576531	P	0.43287	0.802	P	0.46299	0.511	D	0.86366	0.1720	10	0.87932	D	0	-8.8288	7.3764	0.26831	0.0:0.704:0.1374:0.1586	.	122	Q8N0Y5	OR8I2_HUMAN	S	122	ENSP00000303864:R122S	ENSP00000303864:R122S	R	+	1	0	OR8I2	55617723	0.662000	0.27439	0.330000	0.25442	0.001000	0.01503	1.127000	0.31357	0.111000	0.17947	-1.532000	0.00920	CGC		0.433	OR8I2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001003750		63	34	1	0	3.94896e-32	0.00361	6.09251e-32	63	34				
OR5T2	219464	broad.mit.edu	37	11	56000397	56000397	+	Missense_Mutation	SNP	T	T	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr11:56000397T>A	ENST00000313264.4	-	1	340	c.265A>T	c.(265-267)Att>Ttt	p.I89F		NM_001004746.1	NP_001004746.1	Q8NGG2	OR5T2_HUMAN	olfactory receptor, family 5, subfamily T, member 2	89						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(6)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(3)	41	Esophageal squamous(21;0.00448)					GAATCCCTAATGACCACTAAA	0.403																																							uc010rjc.1		NA																	0		p.I89I(1)		ovary(2)	2						c.(265-267)ATT>TTT		olfactory receptor, family 5, subfamily T,							76.0	73.0	74.0					11																	56000397		2201	4296	6497	SO:0001583	missense	219464				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56000397T>A	AB065838	CCDS31523.1	11q11	2012-08-09			ENSG00000181718	ENSG00000181718		"""GPCR / Class A : Olfactory receptors"""	15296	protein-coding gene	gene with protein product							Standard	NM_001004746		Approved		uc010rjc.2	Q8NGG2	OTTHUMG00000166851	ENST00000313264.4:c.265A>T	11.37:g.56000397T>A	ENSP00000323688:p.Ile89Phe						p.I89F	NM_001004746	NP_001004746	Q8NGG2	OR5T2_HUMAN			1	265	-	Esophageal squamous(21;0.00448)		89			Cytoplasmic (Potential).		B9EGX5|Q6IFC8	Missense_Mutation	SNP	ENST00000313264.4	37	c.265A>T	CCDS31523.1	.	.	.	.	.	.	.	.	.	.	T	0.014	-1.594691	0.00857	.	.	ENSG00000181718	ENST00000313264	T	0.01043	5.41	4.83	-0.602	0.11634	GPCR, rhodopsin-like superfamily (1);	0.455019	0.16297	U	0.220642	T	0.00998	0.0033	L	0.48986	1.54	0.09310	N	1	B	0.14438	0.01	B	0.17979	0.02	T	0.49447	-0.8939	10	0.10111	T	0.7	.	1.7937	0.03057	0.1248:0.2349:0.1283:0.512	.	89	Q8NGG2	OR5T2_HUMAN	F	89	ENSP00000323688:I89F	ENSP00000323688:I89F	I	-	1	0	OR5T2	55756973	0.000000	0.05858	0.010000	0.14722	0.002000	0.02628	-0.869000	0.04232	-0.031000	0.13781	-0.457000	0.05445	ATT		0.403	OR5T2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391598.1	NM_001004746		6	33	0	0	0	0.000978	0	6	33				
CD6	923	broad.mit.edu	37	11	60777208	60777209	+	Missense_Mutation	DNP	AA	AA	TG			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	AA	AA	-	-	AA	AA	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr11:60777208_60777209AA>TG	ENST00000313421.7	+	5	1132_1133	c.946_947AA>TG	c.(946-948)AAg>TGg	p.K316W	CD6_ENST00000452451.2_Missense_Mutation_p.K316W|CD6_ENST00000346437.4_Missense_Mutation_p.K316W|CD6_ENST00000344028.5_Missense_Mutation_p.K316W|CD6_ENST00000545105.1_Intron|CD6_ENST00000352009.5_Missense_Mutation_p.K316W	NM_006725.4	NP_006716.3	P30203	CD6_HUMAN	CD6 molecule	316	SRCR 3. {ECO:0000255|PROSITE- ProRule:PRU00196}.				cell adhesion (GO:0007155)	integral component of plasma membrane (GO:0005887)	scavenger receptor activity (GO:0005044)			endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)	18						TGAGAGGCCCAAGGGGCTGCCC	0.604																																					Pancreas(169;904 2017 4767 38890 42505)	Pancreas(169;904 2017 4767 38890 42505)	uc001nqq.2		NA																	0				pancreas(1)	1						c.(946-948)AAG>TGG		CD6 molecule precursor																																				SO:0001583	missense	923				cell adhesion	cell surface|integral to plasma membrane	scavenger receptor activity	g.chr11:60777208_60777209AA>TG		CCDS7999.1, CCDS58137.1, CCDS58138.1	11q12.2	2006-03-28	2006-03-28		ENSG00000013725	ENSG00000013725		"""CD molecules"""	1691	protein-coding gene	gene with protein product		186720	"""CD6 antigen"""			9013954	Standard	NM_006725		Approved	Tp120	uc001nqq.3	P30203	OTTHUMG00000167823	Exception_encountered	11.37:g.60777208_60777209delinsTG	ENSP00000323280:p.Lys316Trp					CD6_uc009yni.2_Intron|CD6_uc009ynj.2_Intron|CD6_uc001nqp.2_Missense_Mutation_p.K316W|CD6_uc001nqr.2_Missense_Mutation_p.K316W|CD6_uc001nqs.2_RNA|CD6_uc001nqt.2_Missense_Mutation_p.K316W	p.K316W	NM_006725	NP_006716	P30203	CD6_HUMAN			5	1169_1170	+			316			SRCR 3.|Extracellular (Potential).		A4KAD4|A4KAD5|Q9UMF2|Q9Y4K7|Q9Y4K8|Q9Y4K9|Q9Y4L0	Missense_Mutation	DNP	ENST00000313421.7	37	c.946_947AA>TG	CCDS7999.1																																																																																				0.604	CD6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396449.1	NM_006725		14	56	0	0	0	0.004672	0	14	56				
INCENP	3619	broad.mit.edu	37	11	61917542	61917542	+	Missense_Mutation	SNP	C	C	G			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr11:61917542C>G	ENST00000394818.3	+	18	2607	c.2405C>G	c.(2404-2406)aCc>aGc	p.T802S	INCENP_ENST00000278849.4_Missense_Mutation_p.T798S	NM_001040694.1	NP_001035784.1	Q9NQS7	INCE_HUMAN	inner centromere protein antigens 135/155kDa	802					chromosome segregation (GO:0007059)|cytokinesis (GO:0000910)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	central element (GO:0000801)|chromocenter (GO:0010369)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lateral element (GO:0000800)|microtubule (GO:0005874)|midbody (GO:0030496)|pericentric heterochromatin (GO:0005721)|protein complex (GO:0043234)|spindle (GO:0005819)				breast(1)|endometrium(1)|kidney(6)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						CCAGCTTGTACCTCATATCAG	0.557																																							uc001nsw.1		NA																	0				lung(1)	1						c.(2404-2406)ACC>AGC		inner centromere protein antigens 135/155kDa							79.0	74.0	76.0					11																	61917542		2202	4299	6501	SO:0001583	missense	3619				chromosome segregation|cytokinesis|mitotic prometaphase	centromeric heterochromatin|condensed chromosome kinetochore|cytosol|microtubule|spindle	protein binding	g.chr11:61917542C>G	AF282265	CCDS31582.1, CCDS44624.1	11q12.3	2013-01-17	2002-08-29		ENSG00000149503	ENSG00000149503			6058	protein-coding gene	gene with protein product		604411	"""inner centromere protein antigens (135kD, 155kD)"""			1860899, 11453556	Standard	NM_001040694		Approved	FLJ31633	uc001nsw.1	Q9NQS7	OTTHUMG00000167470	ENST00000394818.3:c.2405C>G	11.37:g.61917542C>G	ENSP00000378295:p.Thr802Ser					INCENP_uc001nsx.1_Missense_Mutation_p.T798S|INCENP_uc001nsy.1_Missense_Mutation_p.T216S	p.T802S	NM_001040694	NP_001035784	Q9NQS7	INCE_HUMAN			18	2607	+			802					A8MQD2|Q5Y192	Missense_Mutation	SNP	ENST00000394818.3	37	c.2405C>G	CCDS44624.1	.	.	.	.	.	.	.	.	.	.	C	16.58	3.164171	0.57476	.	.	ENSG00000149503	ENST00000394818;ENST00000278849	T;T	0.14893	2.51;2.47	5.8	4.83	0.62350	.	0.118300	0.37219	N	0.002185	T	0.23492	0.0568	L	0.51422	1.61	0.28502	N	0.913987	P;P	0.49253	0.921;0.872	P;P	0.51355	0.667;0.467	T	0.03555	-1.1025	10	0.30854	T	0.27	.	10.7105	0.45980	0.309:0.691:0.0:0.0	.	798;802	Q9NQS7-2;Q9NQS7	.;INCE_HUMAN	S	802;798	ENSP00000378295:T802S;ENSP00000278849:T798S	ENSP00000278849:T798S	T	+	2	0	INCENP	61674118	0.583000	0.26757	0.999000	0.59377	0.676000	0.39594	1.622000	0.36997	2.735000	0.93741	0.655000	0.94253	ACC		0.557	INCENP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000394723.2	NM_020238		12	75	0	0	0	0.004007	0	12	75				
BSCL2	26580	broad.mit.edu	37	11	62472928	62472928	+	Silent	SNP	G	G	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr11:62472928G>A	ENST00000403550.1	-	2	480	c.57C>T	c.(55-57)gtC>gtT	p.V19V	BSCL2_ENST00000537604.1_Intron|BSCL2_ENST00000360796.5_Silent_p.V83V|BSCL2_ENST00000405837.1_Silent_p.V83V|BSCL2_ENST00000433053.1_Silent_p.V83V|BSCL2_ENST00000421906.1_Silent_p.V19V|GNG3_ENST00000294117.5_5'Flank|BSCL2_ENST00000278893.7_Silent_p.V19V|HNRNPUL2-BSCL2_ENST00000403734.2_3'UTR|BSCL2_ENST00000407022.3_Silent_p.V19V			Q96G97	BSCL2_HUMAN	Berardinelli-Seip congenital lipodystrophy 2 (seipin)	19					cell death (GO:0008219)|fat cell differentiation (GO:0045444)|lipid catabolic process (GO:0016042)|lipid particle organization (GO:0034389)|lipid storage (GO:0019915)|negative regulation of lipid catabolic process (GO:0050995)	integral component of endoplasmic reticulum membrane (GO:0030176)				endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	12						GGCCTGCCAAGACTTGGCCCA	0.622																																							uc001nuo.1		NA																	0					0						c.(55-57)GTC>GTT		seipin isoform 2							51.0	48.0	49.0					11																	62472928		2202	4299	6501	SO:0001819	synonymous_variant	26580				cell death	integral to endoplasmic reticulum membrane		g.chr11:62472928G>A		CCDS8031.1, CCDS44627.1, CCDS55769.1	11q13	2014-09-17	2009-07-30		ENSG00000168000	ENSG00000168000			15832	protein-coding gene	gene with protein product		606158	"""spastic paraplegia 17 (Silver syndrome)"""	GNG3LG, SPG17		11479539, 14981520	Standard	NM_001122955		Approved		uc001nur.4	Q96G97	OTTHUMG00000150624	ENST00000403550.1:c.57C>T	11.37:g.62472928G>A						BSCL2_uc009yoc.1_Silent_p.V19V|BSCL2_uc001nup.2_Silent_p.V19V|BSCL2_uc001nuq.1_Silent_p.V19V|BSCL2_uc001nur.3_Silent_p.V83V|BSCL2_uc009yod.2_Silent_p.V83V|BSCL2_uc001nut.3_Silent_p.V83V|HNRNPUL2_uc001nuu.1_RNA|GNG3_uc001nuv.2_5'Flank	p.V19V	NM_032667	NP_116056	Q96G97	BSCL2_HUMAN			2	481	-			19			Cytoplasmic (Potential).		G3XAE4|Q567S1|Q96SV1|Q9BSQ0	Silent	SNP	ENST00000403550.1	37	c.57C>T	CCDS8031.1																																																																																				0.622	BSCL2-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000319185.1	NM_032667		11	38	0	0	0	0.001368	0	11	38				
STX5	6811	broad.mit.edu	37	11	62598658	62598658	+	Missense_Mutation	SNP	G	G	C			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr11:62598658G>C	ENST00000294179.3	-	2	211	c.58C>G	c.(58-60)Ctc>Gtc	p.L20V	RP11-727F15.9_ENST00000535817.1_RNA|STX5_ENST00000541317.1_Intron|STX5_ENST00000394690.1_Intron|RP11-727F15.9_ENST00000535867.1_RNA|STX5_ENST00000377897.4_Missense_Mutation_p.L20V	NM_001244666.1|NM_003164.4	NP_001231595.1|NP_003155.2	Q13190	STX5_HUMAN	syntaxin 5	20					ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|retrograde transport, endosome to Golgi (GO:0042147)|vesicle fusion with Golgi apparatus (GO:0048280)|vesicle targeting (GO:0006903)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|SNARE complex (GO:0031201)	protein N-terminus binding (GO:0047485)|SNAP receptor activity (GO:0005484)			breast(2)|endometrium(2)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	18						GTCTTTGAGAGACCCAGGTAG	0.607																																							uc001nvh.2		NA																	0				ovary(1)|breast(1)	2						c.(58-60)CTC>GTC		syntaxin 5							41.0	36.0	38.0					11																	62598658		2199	4287	6486	SO:0001583	missense	6811				intracellular protein transport|retrograde transport, endosome to Golgi|vesicle targeting	ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|nucleus|SNARE complex	protein N-terminus binding|SNAP receptor activity	g.chr11:62598658G>C	U26648	CCDS8038.2, CCDS58140.1	11q12.3	2008-02-05	2006-04-25	2006-04-25	ENSG00000162236	ENSG00000162236			11440	protein-coding gene	gene with protein product		603189	"""syntaxin 5A"""	STX5A		9188044, 11959998	Standard	NM_003164		Approved	SED5	uc001nvh.3	Q13190	OTTHUMG00000143864	ENST00000294179.3:c.58C>G	11.37:g.62598658G>C	ENSP00000294179:p.Leu20Val					STX5_uc010rmi.1_Intron|STX5_uc009yoh.2_RNA|STX5_uc001nvi.2_Intron|STX5_uc010rmj.1_Missense_Mutation_p.L20V|STX5_uc001nvj.2_5'UTR	p.L20V	NM_003164	NP_003155	Q13190	STX5_HUMAN			2	212	-			20			Cytoplasmic (Potential).		B2R8T2|F8W8Q9|Q5U0D4|Q7Z3T6|Q9BUG1	Missense_Mutation	SNP	ENST00000294179.3	37	c.58C>G	CCDS8038.2	.	.	.	.	.	.	.	.	.	.	G	22.8	4.339275	0.81911	.	.	ENSG00000162236	ENST00000377897;ENST00000294179	T;T	0.33216	1.42;1.42	5.56	5.56	0.83823	.	0.201917	0.34200	N	0.004172	T	0.22044	0.0531	N	0.22421	0.69	0.80722	D	1	P;B	0.39847	0.691;0.306	B;B	0.35353	0.201;0.099	T	0.02774	-1.1112	10	0.29301	T	0.29	-15.0448	17.0347	0.86471	0.0:0.0:1.0:0.0	.	20;20	F8W8Q9;Q13190	.;STX5_HUMAN	V	20	ENSP00000367129:L20V;ENSP00000294179:L20V	ENSP00000294179:L20V	L	-	1	0	STX5	62355234	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.248000	0.78268	2.614000	0.88457	0.561000	0.74099	CTC		0.607	STX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000290113.1	NM_003164		2	8	0	0	0	0.004672	0	2	8				
SLCO2B1	11309	broad.mit.edu	37	11	74915622	74915622	+	Silent	SNP	G	G	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr11:74915622G>A	ENST00000289575.5	+	14	2522	c.2127G>A	c.(2125-2127)gtG>gtA	p.V709V	SLCO2B1_ENST00000428359.2_Silent_p.V687V|SLCO2B1_ENST00000341411.4_Silent_p.V482V|SLCO2B1_ENST00000525650.1_Silent_p.V565V|SLCO2B1_ENST00000532236.1_Silent_p.V593V|SLCO2B1_ENST00000454962.2_Silent_p.V482V	NM_007256.4	NP_009187	O94956	SO2B1_HUMAN	solute carrier organic anion transporter family, member 2B1	709					liver development (GO:0001889)|sodium-independent icosanoid transport (GO:0071718)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bile acid transmembrane transporter activity (GO:0015125)|organic anion transmembrane transporter activity (GO:0008514)|sodium-independent organic anion transmembrane transporter activity (GO:0015347)			breast(2)|endometrium(1)|large_intestine(7)|lung(20)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	39					Acetic acid(DB03166)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Benzylpenicillin(DB01053)|Conjugated Estrogens(DB00286)|Digoxin(DB00390)|Dinoprostone(DB00917)|Ergoloid mesylate(DB01049)|Estradiol(DB00783)|Estrone(DB00655)|Fexofenadine(DB00950)|Fluvastatin(DB01095)|Glyburide(DB01016)|Ibuprofen(DB01050)|Iloprost(DB01088)|Latanoprost(DB00654)|Montelukast(DB00471)|Niacin(DB00627)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Rifampicin(DB01045)|Rosuvastatin(DB01098)|Salicylic acid(DB00936)|Tolbutamide(DB01124)	ATTCCCGAGTGTGAGCTGTCT	0.577																																							uc001owb.2		NA																	0				ovary(1)|breast(1)	2						c.(2125-2127)GTG>GTA		solute carrier organic anion transporter family,	Ergoloid mesylate(DB01049)						51.0	44.0	47.0					11																	74915622		2200	4293	6493	SO:0001819	synonymous_variant	11309				sodium-independent organic anion transport	integral to membrane	sodium-independent organic anion transmembrane transporter activity	g.chr11:74915622G>A	AB026256	CCDS8235.1, CCDS44683.1, CCDS53679.1	11q13	2013-05-22	2003-11-25	2003-11-26				"""Solute carriers"""	10962	protein-coding gene	gene with protein product		604988	"""solute carrier family 21 (organic anion transporter), member 9"""	SLC21A9			Standard	NM_007256		Approved	OATP-B, OATP2B1	uc001owb.3	O94956		ENST00000289575.5:c.2127G>A	11.37:g.74915622G>A						SLCO2B1_uc010rrr.1_Silent_p.V565V|SLCO2B1_uc010rrs.1_Silent_p.V593V|SLCO2B1_uc001owc.2_Silent_p.V482V|SLCO2B1_uc001owd.2_Silent_p.V687V	p.V709V	NM_007256	NP_009187	O94956	SO2B1_HUMAN			14	2514	+			709			Cytoplasmic (Potential).		A8K2G9|B4DGA9|B4DTB0|E7ERN5|E9PPU8|Q9H2Z0|Q9UFU1	Silent	SNP	ENST00000289575.5	37	c.2127G>A	CCDS8235.1																																																																																				0.577	SLCO2B1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000383933.1	NM_007256		9	33	0	0	0	0.008291	0	9	33				
FAT3	120114	broad.mit.edu	37	11	92543184	92543184	+	Silent	SNP	T	T	C			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr11:92543184T>C	ENST00000298047.6	+	12	9440	c.9423T>C	c.(9421-9423)taT>taC	p.Y3141Y	FAT3_ENST00000409404.2_Silent_p.Y3141Y|FAT3_ENST00000525166.1_Silent_p.Y2991Y			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	3141	Cadherin 29. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CCTGTGTCTATGAGAACACAG	0.527										TCGA Ovarian(4;0.039)																													uc001pdj.3		NA																	0				ovary(4)|pancreas(1)	5						c.(9421-9423)TAT>TAC		FAT tumor suppressor homolog 3							58.0	59.0	59.0					11																	92543184		1943	4133	6076	SO:0001819	synonymous_variant	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92543184T>C	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.9423T>C	11.37:g.92543184T>C		TCGA Ovarian(4;0.039)					p.Y3141Y	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN			12	9440	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	3141			Cadherin 29.|Extracellular (Potential).		B5MDB0|Q96AU6	Silent	SNP	ENST00000298047.6	37	c.9423T>C																																																																																					0.527	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		25	40	0	0	0	0.00632	0	25	40				
MTNR1B	4544	broad.mit.edu	37	11	92714731	92714732	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	GG	GG	-	-	GG	GG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr11:92714731_92714732GG>TT	ENST00000257068.2	+	2	348_349	c.342_343GG>TT	c.(340-345)aaGGcc>aaTTcc	p.114_115KA>NS		NM_005959.3	NP_005950.1	P49286	MTR1B_HUMAN	melatonin receptor 1B	114					G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose homeostasis (GO:0042593)|regulation of insulin secretion (GO:0050796)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|melatonin receptor activity (GO:0008502)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	33		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)			Agomelatine(DB06594)|Melatonin(DB01065)|Ramelteon(DB00980)	AGCACTGCAAGGCCAGCGCCTT	0.589																																							uc001pdk.1		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(340-345)AAGGCC>AATTCC		melatonin receptor 1B	Ramelteon(DB00980)																																			SO:0001583	missense	4544				G-protein signaling, coupled to cyclic nucleotide second messenger|glucose homeostasis|regulation of insulin secretion|synaptic transmission	integral to plasma membrane	melatonin receptor activity	g.chr11:92714731_92714732GG>TT	AB033598	CCDS8290.1	11q21-q22	2012-08-08			ENSG00000134640	ENSG00000134640		"""GPCR / Class A : Melatonin receptors"""	7464	protein-coding gene	gene with protein product		600804					Standard	NM_005959		Approved		uc001pdk.1	P49286	OTTHUMG00000167364	Exception_encountered	11.37:g.92714731_92714732delinsTT	ENSP00000257068:p.K114_A115delinsNS						p.114_115KA>NS	NM_005959	NP_005950	P49286	MTR1B_HUMAN			2	445_446	+		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)	114_115			Extracellular (Potential).			Missense_Mutation	DNP	ENST00000257068.2	37	c.342_343GG>TT	CCDS8290.1																																																																																				0.589	MTNR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394323.1			14	84	0	0	0	0.004672	0	14	84				
MMP20	9313	broad.mit.edu	37	11	102487653	102487653	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr11:102487653G>T	ENST00000260228.2	-	2	276	c.264C>A	c.(262-264)gaC>gaA	p.D88E	RP11-817J15.2_ENST00000542119.1_RNA	NM_004771.3	NP_004762.2	Q9NPA2	MMP25_HUMAN	matrix metallopeptidase 20	78					hard palate development (GO:0060022)|inflammatory response (GO:0006954)|proteolysis (GO:0006508)	anchored component of membrane (GO:0031225)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(8;8.95e-05)|all_epithelial(12;0.00227)|Lung NSC(15;0.139)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	Epithelial(9;0.0216)|Lung(13;0.0711)|all cancers(10;0.0889)|LUSC - Lung squamous cell carcinoma(19;0.13)	BRCA - Breast invasive adenocarcinoma(274;0.0161)	Marimastat(DB00786)	TTGTGGTCTGGTCTAACTTCC	0.463																																							uc001phc.2		NA																	0				urinary_tract(1)|skin(1)	2						c.(262-264)GAC>GAA		matrix metalloproteinase 20 preproprotein							183.0	156.0	165.0					11																	102487653		2203	4299	6502	SO:0001583	missense	9313				proteolysis|regulation of enamel mineralization	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|protein binding|zinc ion binding	g.chr11:102487653G>T	Y12779	CCDS8318.1	11q22.3	2008-05-22	2008-05-22			ENSG00000137674			7167	protein-coding gene	gene with protein product	"""enamelysin"""	604629	"""matrix metalloproteinase 20 (enamelysin)"""			9398237	Standard	NM_004771		Approved		uc001phc.3	O60882		ENST00000260228.2:c.264C>A	11.37:g.102487653G>T	ENSP00000260228:p.Asp88Glu						p.D88E	NM_004771	NP_004762	O60882	MMP20_HUMAN	Epithelial(9;0.0216)|Lung(13;0.0711)|all cancers(10;0.0889)|LUSC - Lung squamous cell carcinoma(19;0.13)	BRCA - Breast invasive adenocarcinoma(274;0.0161)	2	277	-	all_cancers(8;8.95e-05)|all_epithelial(12;0.00227)|Lung NSC(15;0.139)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	88					D3DUA8|Q9H3Q0	Missense_Mutation	SNP	ENST00000260228.2	37	c.264C>A	CCDS8318.1	.	.	.	.	.	.	.	.	.	.	G	13.53	2.264577	0.39995	.	.	ENSG00000137674	ENST00000260228	T	0.57273	0.41	5.09	3.23	0.37069	Peptidoglycan binding-like (2);Metallopeptidase, catalytic domain (1);	0.045342	0.85682	D	0.000000	T	0.75354	0.3838	M	0.93462	3.42	0.34525	D	0.708546	D	0.89917	1.0	D	0.83275	0.996	T	0.83131	-0.0113	10	0.87932	D	0	.	7.7813	0.29066	0.2947:0.0:0.7053:0.0	.	88	O60882	MMP20_HUMAN	E	88	ENSP00000260228:D88E	ENSP00000260228:D88E	D	-	3	2	MMP20	101992863	0.892000	0.30473	0.545000	0.28153	0.106000	0.19336	1.281000	0.33214	1.514000	0.48869	-0.140000	0.14226	GAC		0.463	MMP20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398012.1			18	22	1	0	2.89027e-11	0.002299	3.64535e-11	18	22				
GRIA4	2893	broad.mit.edu	37	11	105781191	105781191	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr11:105781191G>T	ENST00000530497.1	+	9	1189	c.1189G>T	c.(1189-1191)Gtc>Ttc	p.V397F	GRIA4_ENST00000525187.1_Missense_Mutation_p.V397F|GRIA4_ENST00000282499.5_Missense_Mutation_p.V397F|GRIA4_ENST00000428631.2_Missense_Mutation_p.V397F|GRIA4_ENST00000393127.2_Missense_Mutation_p.V397F|GRIA4_ENST00000393125.2_Missense_Mutation_p.V397F			P48058	GRIA4_HUMAN	glutamate receptor, ionotropic, AMPA 4	397					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|vesicle (GO:0031982)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)		GGATAAGTTAGTCTTGATTCA	0.358																																							uc001pix.2		NA																	0				ovary(3)|skin(3)|lung(1)|central_nervous_system(1)	8						c.(1189-1191)GTC>TTC		glutamate receptor, ionotrophic, AMPA 4 isoform	L-Glutamic Acid(DB00142)						233.0	190.0	205.0					11																	105781191		2202	4299	6501	SO:0001583	missense	2893				glutamate signaling pathway|synaptic transmission	cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity	g.chr11:105781191G>T	U16129	CCDS8333.1, CCDS41706.1, CCDS41707.1	11q22	2012-08-29	2012-02-03		ENSG00000152578	ENSG00000152578		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4574	protein-coding gene	gene with protein product		138246	"""glutamate receptor, ionotrophic, AMPA 4"""	GLUR4			Standard	NM_001077244		Approved	GluA4, GLURD	uc001pix.2	P48058	OTTHUMG00000166236	ENST00000530497.1:c.1189G>T	11.37:g.105781191G>T	ENSP00000435775:p.Val397Phe					GRIA4_uc001piu.1_Missense_Mutation_p.V397F|GRIA4_uc001piw.2_Missense_Mutation_p.V397F|GRIA4_uc009yxk.1_Missense_Mutation_p.V397F	p.V397F	NM_000829	NP_000820	P48058	GRIA4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)	10	1635	+		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)	397			Extracellular (Potential).		Q86XE8	Missense_Mutation	SNP	ENST00000530497.1	37	c.1189G>T	CCDS8333.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.380761	0.82792	.	.	ENSG00000152578	ENST00000393125;ENST00000282499;ENST00000393127;ENST00000428631;ENST00000530497;ENST00000525187	T;T;T;T;T;T	0.22743	1.94;1.94;1.94;1.94;1.94;1.94	6.08	6.08	0.98989	.	0.000000	0.64402	D	0.000015	T	0.52869	0.1761	M	0.80746	2.51	0.80722	D	1	D;D;D	0.89917	0.98;1.0;0.998	B;D;D	0.87578	0.38;0.998;0.925	T	0.49771	-0.8904	10	0.56958	D	0.05	.	20.6721	0.99693	0.0:0.0:1.0:0.0	.	397;397;397	P48058;G3V164;Q86XE8	GRIA4_HUMAN;.;.	F	397	ENSP00000376833:V397F;ENSP00000282499:V397F;ENSP00000376835:V397F;ENSP00000415551:V397F;ENSP00000435775:V397F;ENSP00000432180:V397F	ENSP00000282499:V397F	V	+	1	0	GRIA4	105286401	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.476000	0.97823	2.894000	0.99253	0.591000	0.81541	GTC		0.358	GRIA4-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000388593.1			10	63	1	0	1.08611e-07	0.000978	1.26254e-07	10	63				
DDX10	1662	broad.mit.edu	37	11	108562632	108562632	+	Silent	SNP	G	G	A	rs144415130		TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr11:108562632G>A	ENST00000322536.3	+	8	1134	c.1005G>A	c.(1003-1005)cgG>cgA	p.R335R	DDX10_ENST00000526794.1_Silent_p.R335R	NM_004398.2	NP_004389.2	Q13206	DDX10_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 10	335	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				metabolic process (GO:0008152)		ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)			breast(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|prostate(2)	27		all_cancers(61;1.29e-11)|all_epithelial(67;2.96e-07)|Melanoma(852;1.54e-05)|Acute lymphoblastic leukemia(157;4.24e-05)|all_hematologic(158;0.000141)|Breast(348;0.026)|all_neural(223;0.0729)		BRCA - Breast invasive adenocarcinoma(274;2.48e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.000609)|OV - Ovarian serous cystadenocarcinoma(223;0.133)		TGTTTTGCCGGCTACGTCCTG	0.453			T	NUP98	AML*																																		uc001pkm.2		NA		Dom	yes		11	11q22-q23	1662	T	DEAD (Asp-Glu-Ala-Asp) box polypeptide 10			L	NUP98		AML*		0				breast(2)|lung(1)|prostate(1)	4						c.(1003-1005)CGG>CGA		DEAD (Asp-Glu-Ala-Asp) box polypeptide 10							159.0	132.0	141.0					11																	108562632		2201	4298	6499	SO:0001819	synonymous_variant	1662						ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity	g.chr11:108562632G>A	U28042	CCDS8342.1	11q22-q23	2005-10-11	2003-06-13		ENSG00000178105	ENSG00000178105		"""DEAD-boxes"""	2735	protein-coding gene	gene with protein product		601235	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 10 (RNA helicase)"""			8660968	Standard	NM_004398		Approved	HRH-J8	uc001pkm.3	Q13206	OTTHUMG00000166540	ENST00000322536.3:c.1005G>A	11.37:g.108562632G>A						DDX10_uc001pkl.1_Silent_p.R335R	p.R335R	NM_004398	NP_004389	Q13206	DDX10_HUMAN		BRCA - Breast invasive adenocarcinoma(274;2.48e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.000609)|OV - Ovarian serous cystadenocarcinoma(223;0.133)	8	1070	+		all_cancers(61;1.29e-11)|all_epithelial(67;2.96e-07)|Melanoma(852;1.54e-05)|Acute lymphoblastic leukemia(157;4.24e-05)|all_hematologic(158;0.000141)|Breast(348;0.026)|all_neural(223;0.0729)	335			Helicase C-terminal.		B2RCQ3|Q5BJD8	Silent	SNP	ENST00000322536.3	37	c.1005G>A	CCDS8342.1																																																																																				0.453	DDX10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390343.1	NM_004398		48	32	0	0	0	0.00361	0	48	32				
PIH1D2	120379	broad.mit.edu	37	11	111943723	111943723	+	Splice_Site	SNP	A	A	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr11:111943723A>T	ENST00000280350.4	-	2	398	c.176T>A	c.(175-177)cTg>cAg	p.L59Q	PIH1D2_ENST00000431456.1_Splice_Site_p.L59Q|C11orf57_ENST00000420986.2_5'Flank|PIH1D2_ENST00000532211.1_Splice_Site_p.L59Q|C11orf57_ENST00000530104.1_5'Flank|PIH1D2_ENST00000528775.1_Splice_Site_p.L59Q|PIH1D2_ENST00000530641.1_Splice_Site_p.L59Q|C11orf57_ENST00000393047.3_5'Flank|C11orf57_ENST00000532163.1_5'Flank|C11orf57_ENST00000280352.9_5'Flank|PIH1D2_ENST00000521853.2_5'UTR	NM_138789.3	NP_620144.1	Q8WWB5	PIHD2_HUMAN	PIH1 domain containing 2	59										endometrium(2)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	11		all_cancers(61;1.09e-14)|all_epithelial(67;7.64e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;3.19e-07)|BRCA - Breast invasive adenocarcinoma(274;6.17e-07)|all cancers(92;6.18e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0508)		TCGACATACCAGAATCCTGGT	0.453																																							uc001pmq.3		NA																	0				ovary(1)	1						c.(175-177)CTG>CAG		PIH1 domain containing 2 isoform 1							71.0	66.0	68.0					11																	111943723		2201	4297	6498	SO:0001630	splice_region_variant	120379							g.chr11:111943723A>T	BC019238	CCDS8355.1, CCDS44730.1	11q23.1	2007-01-31			ENSG00000150773	ENSG00000150773			25210	protein-coding gene	gene with protein product						12477932	Standard	NM_138789		Approved		uc001pmp.4	Q8WWB5	OTTHUMG00000166925	ENST00000280350.4:c.177+1T>A	11.37:g.111943723A>T						PIH1D2_uc009yyl.2_Missense_Mutation_p.L59Q|PIH1D2_uc001pmp.3_Missense_Mutation_p.L59Q|PIH1D2_uc010rws.1_Missense_Mutation_p.L59Q|C11orf57_uc001pmu.2_5'Flank|C11orf57_uc001pmw.3_5'Flank|C11orf57_uc001pmt.3_5'Flank|C11orf57_uc001pmr.3_5'Flank|C11orf57_uc001pmv.3_5'Flank|C11orf57_uc001pms.3_5'Flank	p.L59Q	NM_138789	NP_620144	Q8WWB5	PIHD2_HUMAN		Epithelial(105;3.19e-07)|BRCA - Breast invasive adenocarcinoma(274;6.17e-07)|all cancers(92;6.18e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0508)	2	258	-		all_cancers(61;1.09e-14)|all_epithelial(67;7.64e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)	59					B4DU48|E9PD82	Missense_Mutation	SNP	ENST00000280350.4	37	c.176T>A	CCDS8355.1	.	.	.	.	.	.	.	.	.	.	A	16.93	3.259086	0.59321	.	.	ENSG00000150773	ENST00000528775;ENST00000431456;ENST00000532211;ENST00000280350;ENST00000530641;ENST00000525744	T;T;T;T;T;T	0.17213	2.29;2.29;2.29;2.29;2.29;2.29	4.97	4.97	0.65823	.	0.153318	0.45606	D	0.000344	T	0.36166	0.0957	M	0.82323	2.585	0.45318	D	0.998315	P;P;D	0.53151	0.916;0.916;0.958	P;P;P	0.53954	0.738;0.738;0.697	T	0.21143	-1.0254	10	0.46703	T	0.11	-2.9856	12.9265	0.58262	1.0:0.0:0.0:0.0	.	59;59;59	B4DU48;E9PD82;Q8WWB5	.;.;PIHD2_HUMAN	Q	59;59;59;59;59;24	ENSP00000434275:L59Q;ENSP00000388209:L59Q;ENSP00000431841:L59Q;ENSP00000280350:L59Q;ENSP00000431147:L59Q;ENSP00000433297:L24Q	ENSP00000280350:L59Q	L	-	2	0	PIH1D2	111448933	0.999000	0.42202	0.886000	0.34754	0.426000	0.31534	5.359000	0.66074	2.219000	0.72066	0.533000	0.62120	CTG		0.453	PIH1D2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391916.1	NM_138789	Missense_Mutation	29	25	0	0	0	0.004878	0	29	25				
DRD2	1813	broad.mit.edu	37	11	113281511	113281511	+	Missense_Mutation	SNP	T	T	C			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr11:113281511T>C	ENST00000362072.3	-	8	1614	c.1270A>G	c.(1270-1272)Atc>Gtc	p.I424V	DRD2_ENST00000538967.1_Missense_Mutation_p.I426V|DRD2_ENST00000544518.1_Missense_Mutation_p.I423V|RP11-159N11.3_ENST00000546284.1_RNA|DRD2_ENST00000355319.2_Missense_Mutation_p.I426V|DRD2_ENST00000542968.1_Missense_Mutation_p.I424V|DRD2_ENST00000346454.3_Missense_Mutation_p.I395V	NM_000795.3	NP_000786.1	P14416	DRD2_HUMAN	dopamine receptor D2	424					activation of protein kinase activity (GO:0032147)|adenohypophysis development (GO:0021984)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|adult walking behavior (GO:0007628)|arachidonic acid secretion (GO:0050482)|associative learning (GO:0008306)|auditory behavior (GO:0031223)|axonogenesis (GO:0007409)|behavioral response to cocaine (GO:0048148)|behavioral response to ethanol (GO:0048149)|branching morphogenesis of a nerve (GO:0048755)|cellular calcium ion homeostasis (GO:0006874)|cerebral cortex GABAergic interneuron migration (GO:0021853)|circadian regulation of gene expression (GO:0032922)|dopamine metabolic process (GO:0042417)|feeding behavior (GO:0007631)|G-protein coupled receptor internalization (GO:0002031)|grooming behavior (GO:0007625)|intracellular signal transduction (GO:0035556)|locomotory behavior (GO:0007626)|long-term memory (GO:0007616)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of blood pressure (GO:0045776)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of circadian sleep/wake cycle, sleep (GO:0042321)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of dopamine receptor signaling pathway (GO:0060160)|negative regulation of dopamine secretion (GO:0033602)|negative regulation of insulin secretion (GO:0046676)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein secretion (GO:0050709)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|negative regulation of voltage-gated calcium channel activity (GO:1901386)|neurological system process involved in regulation of systemic arterial blood pressure (GO:0001976)|neuron-neuron synaptic transmission (GO:0007270)|orbitofrontal cortex development (GO:0021769)|peristalsis (GO:0030432)|phosphatidylinositol metabolic process (GO:0046488)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|pigmentation (GO:0043473)|positive regulation of cytokinesis (GO:0032467)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of dopamine uptake involved in synaptic transmission (GO:0051586)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|positive regulation of growth hormone secretion (GO:0060124)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of receptor internalization (GO:0002092)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of urine volume (GO:0035810)|prepulse inhibition (GO:0060134)|protein localization (GO:0008104)|regulation of cAMP metabolic process (GO:0030814)|regulation of dopamine uptake involved in synaptic transmission (GO:0051584)|regulation of heart rate (GO:0002027)|regulation of locomotion involved in locomotory behavior (GO:0090325)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of phosphoprotein phosphatase activity (GO:0043666)|regulation of potassium ion transport (GO:0043266)|regulation of sodium ion transport (GO:0002028)|regulation of synapse structural plasticity (GO:0051823)|regulation of synaptic transmission, GABAergic (GO:0032228)|release of sequestered calcium ion into cytosol (GO:0051209)|response to amphetamine (GO:0001975)|response to axon injury (GO:0048678)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to histamine (GO:0034776)|response to hypoxia (GO:0001666)|response to inactivity (GO:0014854)|response to iron ion (GO:0010039)|response to light stimulus (GO:0009416)|response to morphine (GO:0043278)|response to nicotine (GO:0035094)|response to toxic substance (GO:0009636)|sensory perception of smell (GO:0007608)|striatum development (GO:0021756)|synapse assembly (GO:0007416)|synaptic transmission, dopaminergic (GO:0001963)|temperature homeostasis (GO:0001659)|visual learning (GO:0008542)|Wnt signaling pathway (GO:0016055)	acrosomal vesicle (GO:0001669)|axon (GO:0030424)|axon terminus (GO:0043679)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endocytic vesicle (GO:0030139)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|sperm flagellum (GO:0036126)|synaptic vesicle membrane (GO:0030672)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity, coupled via Gi/Go (GO:0001591)|drug binding (GO:0008144)|identical protein binding (GO:0042802)|potassium channel regulator activity (GO:0015459)			endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(18)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	39		all_cancers(61;3.91e-16)|all_epithelial(67;2.95e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000977)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0494)		BRCA - Breast invasive adenocarcinoma(274;5.77e-06)|Epithelial(105;6.66e-05)|all cancers(92;0.000307)|OV - Ovarian serous cystadenocarcinoma(223;0.216)	Acepromazine(DB01614)|Acetophenazine(DB01063)|Alizapride(DB01425)|Amantadine(DB00915)|Amisulpride(DB06288)|Amoxapine(DB00543)|Amphetamine(DB00182)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Desipramine(DB01151)|Domperidone(DB01184)|Dopamine(DB00988)|Doxepin(DB01142)|Droperidol(DB00450)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Iloperidone(DB04946)|Imipramine(DB00458)|Ketamine(DB01221)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Lurasidone(DB08815)|Maprotiline(DB00934)|Memantine(DB01043)|Mesoridazine(DB00933)|Methotrimeprazine(DB01403)|Metoclopramide(DB01233)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Molindone(DB01618)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Pimozide(DB01100)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Sertindole(DB06144)|Sulpiride(DB00391)|Tetrabenazine(DB04844)|Thioproperazine(DB01622)|Thioridazine(DB00679)|Thiothixene(DB01623)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Trimipramine(DB00726)|Yohimbine(DB01392)|Ziprasidone(DB00246)	GTGTAGATGATGGGGTTCACG	0.567																																							uc001pnz.2		NA																	0				pancreas(1)|skin(1)	2						c.(1270-1272)ATC>GTC		dopamine receptor D2 isoform long	Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Carphenazine(DB01038)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Domperidone(DB01184)|Droperidol(DB00450)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Mesoridazine(DB00933)|Metoclopramide(DB01233)|Minaprine(DB00805)|Molindone(DB01618)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Pimozide(DB01100)|Pramipexole(DB00413)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Sulpiride(DB00391)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Ziprasidone(DB00246)|Zuclopenthixol(DB01624)						274.0	203.0	227.0					11																	113281511		2201	4296	6497	SO:0001583	missense	1813				activation of phospholipase C activity by dopamine receptor signaling pathway|adenohypophysis development|adult walking behavior|arachidonic acid secretion|axonogenesis|behavioral response to cocaine|behavioral response to ethanol|branching morphogenesis of a nerve|cerebral cortex GABAergic interneuron migration|circadian regulation of gene expression|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|intracellular protein kinase cascade|negative regulation of blood pressure|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of dopamine receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|negative regulation of synaptic transmission, glutamatergic|neurological system process involved in regulation of systemic arterial blood pressure|peristalsis|phosphatidylinositol metabolic process|positive regulation of dopamine uptake|positive regulation of growth hormone secretion|positive regulation of neuroblast proliferation|prepulse inhibition|protein localization|regulation of heart rate|regulation of long-term neuronal synaptic plasticity|regulation of potassium ion transport|regulation of sodium ion transport|regulation of synaptic transmission, GABAergic|release of sequestered calcium ion into cytosol|response to amphetamine|response to drug|response to histamine|response to morphine|sensory perception of smell|synapse assembly|temperature homeostasis|visual learning	integral to plasma membrane	dopamine D2 receptor activity|dopamine receptor activity, coupled via Gi/Go|drug binding|potassium channel regulator activity|protein binding	g.chr11:113281511T>C	M29066	CCDS8361.1, CCDS8362.1	11q22-q23	2012-08-08						"""GPCR / Class A : Dopamine receptors"""	3023	protein-coding gene	gene with protein product		126450					Standard	NM_000795		Approved		uc001poa.4	P14416		ENST00000362072.3:c.1270A>G	11.37:g.113281511T>C	ENSP00000354859:p.Ile424Val					DRD2_uc010rwv.1_Missense_Mutation_p.I423V|DRD2_uc001poa.3_Missense_Mutation_p.I424V|DRD2_uc001pob.3_Missense_Mutation_p.I395V	p.I424V	NM_000795	NP_000786	P14416	DRD2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.77e-06)|Epithelial(105;6.66e-05)|all cancers(92;0.000307)|OV - Ovarian serous cystadenocarcinoma(223;0.216)	7	1591	-		all_cancers(61;3.91e-16)|all_epithelial(67;2.95e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000977)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0494)	424			Helical; Name=7; (By similarity).		Q9NZR3|Q9UPA9	Missense_Mutation	SNP	ENST00000362072.3	37	c.1270A>G	CCDS8361.1	.	.	.	.	.	.	.	.	.	.	T	4.299	0.054787	0.08291	.	.	ENSG00000149295	ENST00000355319;ENST00000346454;ENST00000362072;ENST00000544518;ENST00000542968;ENST00000538967	T;T;T;T;T;T	0.40756	1.02;1.02;1.02;1.02;1.02;1.02	5.62	3.31	0.37934	GPCR, rhodopsin-like superfamily (1);	0.045296	0.85682	N	0.000000	T	0.30008	0.0751	L	0.31526	0.94	0.58432	D	0.999993	B;B;B	0.29671	0.254;0.24;0.066	B;B;B	0.38842	0.283;0.086;0.272	T	0.07252	-1.0782	10	0.02654	T	1	.	9.8402	0.40993	0.0:0.1388:0.0:0.8612	.	423;395;424	F8VUV1;P14416-2;P14416	.;.;DRD2_HUMAN	V	426;395;424;423;424;426	ENSP00000347474:I426V;ENSP00000278597:I395V;ENSP00000354859:I424V;ENSP00000441068:I423V;ENSP00000442172:I424V;ENSP00000438215:I426V	ENSP00000278597:I395V	I	-	1	0	DRD2	112786721	1.000000	0.71417	1.000000	0.80357	0.779000	0.44077	6.287000	0.72671	0.425000	0.26087	-0.256000	0.11100	ATC		0.567	DRD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395834.1	NM_000795		30	100	0	0	0	0.002445	0	30	100				
DRD2	1813	broad.mit.edu	37	11	113283453	113283453	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr11:113283453G>T	ENST00000362072.3	-	7	1307	c.963C>A	c.(961-963)agC>agA	p.S321R	DRD2_ENST00000538967.1_Missense_Mutation_p.S323R|DRD2_ENST00000544518.1_Missense_Mutation_p.S320R|RP11-159N11.3_ENST00000546284.1_RNA|DRD2_ENST00000355319.2_Missense_Mutation_p.S323R|DRD2_ENST00000535984.1_5'Flank|DRD2_ENST00000542968.1_Missense_Mutation_p.S321R|DRD2_ENST00000346454.3_Missense_Mutation_p.S292R	NM_000795.3	NP_000786.1	P14416	DRD2_HUMAN	dopamine receptor D2	321	Interaction with PPP1R9B. {ECO:0000250}.				activation of protein kinase activity (GO:0032147)|adenohypophysis development (GO:0021984)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|adult walking behavior (GO:0007628)|arachidonic acid secretion (GO:0050482)|associative learning (GO:0008306)|auditory behavior (GO:0031223)|axonogenesis (GO:0007409)|behavioral response to cocaine (GO:0048148)|behavioral response to ethanol (GO:0048149)|branching morphogenesis of a nerve (GO:0048755)|cellular calcium ion homeostasis (GO:0006874)|cerebral cortex GABAergic interneuron migration (GO:0021853)|circadian regulation of gene expression (GO:0032922)|dopamine metabolic process (GO:0042417)|feeding behavior (GO:0007631)|G-protein coupled receptor internalization (GO:0002031)|grooming behavior (GO:0007625)|intracellular signal transduction (GO:0035556)|locomotory behavior (GO:0007626)|long-term memory (GO:0007616)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of blood pressure (GO:0045776)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of circadian sleep/wake cycle, sleep (GO:0042321)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of dopamine receptor signaling pathway (GO:0060160)|negative regulation of dopamine secretion (GO:0033602)|negative regulation of insulin secretion (GO:0046676)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein secretion (GO:0050709)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|negative regulation of voltage-gated calcium channel activity (GO:1901386)|neurological system process involved in regulation of systemic arterial blood pressure (GO:0001976)|neuron-neuron synaptic transmission (GO:0007270)|orbitofrontal cortex development (GO:0021769)|peristalsis (GO:0030432)|phosphatidylinositol metabolic process (GO:0046488)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|pigmentation (GO:0043473)|positive regulation of cytokinesis (GO:0032467)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of dopamine uptake involved in synaptic transmission (GO:0051586)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|positive regulation of growth hormone secretion (GO:0060124)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of receptor internalization (GO:0002092)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of urine volume (GO:0035810)|prepulse inhibition (GO:0060134)|protein localization (GO:0008104)|regulation of cAMP metabolic process (GO:0030814)|regulation of dopamine uptake involved in synaptic transmission (GO:0051584)|regulation of heart rate (GO:0002027)|regulation of locomotion involved in locomotory behavior (GO:0090325)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of phosphoprotein phosphatase activity (GO:0043666)|regulation of potassium ion transport (GO:0043266)|regulation of sodium ion transport (GO:0002028)|regulation of synapse structural plasticity (GO:0051823)|regulation of synaptic transmission, GABAergic (GO:0032228)|release of sequestered calcium ion into cytosol (GO:0051209)|response to amphetamine (GO:0001975)|response to axon injury (GO:0048678)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to histamine (GO:0034776)|response to hypoxia (GO:0001666)|response to inactivity (GO:0014854)|response to iron ion (GO:0010039)|response to light stimulus (GO:0009416)|response to morphine (GO:0043278)|response to nicotine (GO:0035094)|response to toxic substance (GO:0009636)|sensory perception of smell (GO:0007608)|striatum development (GO:0021756)|synapse assembly (GO:0007416)|synaptic transmission, dopaminergic (GO:0001963)|temperature homeostasis (GO:0001659)|visual learning (GO:0008542)|Wnt signaling pathway (GO:0016055)	acrosomal vesicle (GO:0001669)|axon (GO:0030424)|axon terminus (GO:0043679)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endocytic vesicle (GO:0030139)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|sperm flagellum (GO:0036126)|synaptic vesicle membrane (GO:0030672)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity, coupled via Gi/Go (GO:0001591)|drug binding (GO:0008144)|identical protein binding (GO:0042802)|potassium channel regulator activity (GO:0015459)			endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(18)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	39		all_cancers(61;3.91e-16)|all_epithelial(67;2.95e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000977)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0494)		BRCA - Breast invasive adenocarcinoma(274;5.77e-06)|Epithelial(105;6.66e-05)|all cancers(92;0.000307)|OV - Ovarian serous cystadenocarcinoma(223;0.216)	Acepromazine(DB01614)|Acetophenazine(DB01063)|Alizapride(DB01425)|Amantadine(DB00915)|Amisulpride(DB06288)|Amoxapine(DB00543)|Amphetamine(DB00182)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Desipramine(DB01151)|Domperidone(DB01184)|Dopamine(DB00988)|Doxepin(DB01142)|Droperidol(DB00450)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Iloperidone(DB04946)|Imipramine(DB00458)|Ketamine(DB01221)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Lurasidone(DB08815)|Maprotiline(DB00934)|Memantine(DB01043)|Mesoridazine(DB00933)|Methotrimeprazine(DB01403)|Metoclopramide(DB01233)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Molindone(DB01618)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Pimozide(DB01100)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Sertindole(DB06144)|Sulpiride(DB00391)|Tetrabenazine(DB04844)|Thioproperazine(DB01622)|Thioridazine(DB00679)|Thiothixene(DB01623)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Trimipramine(DB00726)|Yohimbine(DB01392)|Ziprasidone(DB00246)	GTTTGGCGGGGCTGTCGGGAG	0.622																																							uc001pnz.2		NA																	0				pancreas(1)|skin(1)	2						c.(961-963)AGC>AGA		dopamine receptor D2 isoform long	Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Carphenazine(DB01038)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Domperidone(DB01184)|Droperidol(DB00450)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Mesoridazine(DB00933)|Metoclopramide(DB01233)|Minaprine(DB00805)|Molindone(DB01618)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Pimozide(DB01100)|Pramipexole(DB00413)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Sulpiride(DB00391)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Ziprasidone(DB00246)|Zuclopenthixol(DB01624)						129.0	108.0	115.0					11																	113283453		2201	4296	6497	SO:0001583	missense	1813				activation of phospholipase C activity by dopamine receptor signaling pathway|adenohypophysis development|adult walking behavior|arachidonic acid secretion|axonogenesis|behavioral response to cocaine|behavioral response to ethanol|branching morphogenesis of a nerve|cerebral cortex GABAergic interneuron migration|circadian regulation of gene expression|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|intracellular protein kinase cascade|negative regulation of blood pressure|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of dopamine receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|negative regulation of synaptic transmission, glutamatergic|neurological system process involved in regulation of systemic arterial blood pressure|peristalsis|phosphatidylinositol metabolic process|positive regulation of dopamine uptake|positive regulation of growth hormone secretion|positive regulation of neuroblast proliferation|prepulse inhibition|protein localization|regulation of heart rate|regulation of long-term neuronal synaptic plasticity|regulation of potassium ion transport|regulation of sodium ion transport|regulation of synaptic transmission, GABAergic|release of sequestered calcium ion into cytosol|response to amphetamine|response to drug|response to histamine|response to morphine|sensory perception of smell|synapse assembly|temperature homeostasis|visual learning	integral to plasma membrane	dopamine D2 receptor activity|dopamine receptor activity, coupled via Gi/Go|drug binding|potassium channel regulator activity|protein binding	g.chr11:113283453G>T	M29066	CCDS8361.1, CCDS8362.1	11q22-q23	2012-08-08						"""GPCR / Class A : Dopamine receptors"""	3023	protein-coding gene	gene with protein product		126450					Standard	NM_000795		Approved		uc001poa.4	P14416		ENST00000362072.3:c.963C>A	11.37:g.113283453G>T	ENSP00000354859:p.Ser321Arg					DRD2_uc010rwv.1_Missense_Mutation_p.S320R|DRD2_uc001poa.3_Missense_Mutation_p.S321R|DRD2_uc001pob.3_Missense_Mutation_p.S292R	p.S321R	NM_000795	NP_000786	P14416	DRD2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.77e-06)|Epithelial(105;6.66e-05)|all cancers(92;0.000307)|OV - Ovarian serous cystadenocarcinoma(223;0.216)	6	1284	-		all_cancers(61;3.91e-16)|all_epithelial(67;2.95e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000977)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0494)	321			Cytoplasmic (By similarity).|Interaction with PPP1R9B (By similarity).		Q9NZR3|Q9UPA9	Missense_Mutation	SNP	ENST00000362072.3	37	c.963C>A	CCDS8361.1	.	.	.	.	.	.	.	.	.	.	G	16.20	3.055100	0.55325	.	.	ENSG00000149295	ENST00000355319;ENST00000346454;ENST00000362072;ENST00000544518;ENST00000542968;ENST00000538967	T;T;T;T;T;T	0.73047	-0.69;-0.69;-0.68;-0.71;-0.68;-0.69	5.97	2.0	0.26442	GPCR, rhodopsin-like superfamily (1);	0.077147	0.85682	D	0.000000	T	0.70334	0.3212	M	0.67953	2.075	0.49687	D	0.999811	P;B;B	0.43578	0.811;0.016;0.131	P;B;B	0.47941	0.562;0.033;0.102	T	0.63959	-0.6519	10	0.30854	T	0.27	.	9.0635	0.36449	0.3471:0.0:0.6528:0.0	.	320;292;321	F8VUV1;P14416-2;P14416	.;.;DRD2_HUMAN	R	323;292;321;320;321;323	ENSP00000347474:S323R;ENSP00000278597:S292R;ENSP00000354859:S321R;ENSP00000441068:S320R;ENSP00000442172:S321R;ENSP00000438215:S323R	ENSP00000278597:S292R	S	-	3	2	DRD2	112788663	1.000000	0.71417	0.992000	0.48379	0.868000	0.49771	1.677000	0.37576	0.120000	0.18254	-0.140000	0.14226	AGC		0.622	DRD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395834.1	NM_000795		17	46	1	0	1.56442e-22	0.002445	2.30102e-22	17	46				
DRD2	1813	broad.mit.edu	37	11	113283469	113283469	+	Missense_Mutation	SNP	T	T	G			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr11:113283469T>G	ENST00000362072.3	-	7	1291	c.947A>C	c.(946-948)cAc>cCc	p.H316P	DRD2_ENST00000538967.1_Missense_Mutation_p.H318P|DRD2_ENST00000544518.1_Missense_Mutation_p.H315P|RP11-159N11.3_ENST00000546284.1_RNA|DRD2_ENST00000355319.2_Missense_Mutation_p.H318P|DRD2_ENST00000535984.1_5'Flank|DRD2_ENST00000542968.1_Missense_Mutation_p.H316P|DRD2_ENST00000346454.3_Missense_Mutation_p.H287P	NM_000795.3	NP_000786.1	P14416	DRD2_HUMAN	dopamine receptor D2	316	Interaction with PPP1R9B. {ECO:0000250}.				activation of protein kinase activity (GO:0032147)|adenohypophysis development (GO:0021984)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|adult walking behavior (GO:0007628)|arachidonic acid secretion (GO:0050482)|associative learning (GO:0008306)|auditory behavior (GO:0031223)|axonogenesis (GO:0007409)|behavioral response to cocaine (GO:0048148)|behavioral response to ethanol (GO:0048149)|branching morphogenesis of a nerve (GO:0048755)|cellular calcium ion homeostasis (GO:0006874)|cerebral cortex GABAergic interneuron migration (GO:0021853)|circadian regulation of gene expression (GO:0032922)|dopamine metabolic process (GO:0042417)|feeding behavior (GO:0007631)|G-protein coupled receptor internalization (GO:0002031)|grooming behavior (GO:0007625)|intracellular signal transduction (GO:0035556)|locomotory behavior (GO:0007626)|long-term memory (GO:0007616)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of blood pressure (GO:0045776)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of circadian sleep/wake cycle, sleep (GO:0042321)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of dopamine receptor signaling pathway (GO:0060160)|negative regulation of dopamine secretion (GO:0033602)|negative regulation of insulin secretion (GO:0046676)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein secretion (GO:0050709)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|negative regulation of voltage-gated calcium channel activity (GO:1901386)|neurological system process involved in regulation of systemic arterial blood pressure (GO:0001976)|neuron-neuron synaptic transmission (GO:0007270)|orbitofrontal cortex development (GO:0021769)|peristalsis (GO:0030432)|phosphatidylinositol metabolic process (GO:0046488)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|pigmentation (GO:0043473)|positive regulation of cytokinesis (GO:0032467)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of dopamine uptake involved in synaptic transmission (GO:0051586)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|positive regulation of growth hormone secretion (GO:0060124)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of receptor internalization (GO:0002092)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of urine volume (GO:0035810)|prepulse inhibition (GO:0060134)|protein localization (GO:0008104)|regulation of cAMP metabolic process (GO:0030814)|regulation of dopamine uptake involved in synaptic transmission (GO:0051584)|regulation of heart rate (GO:0002027)|regulation of locomotion involved in locomotory behavior (GO:0090325)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of phosphoprotein phosphatase activity (GO:0043666)|regulation of potassium ion transport (GO:0043266)|regulation of sodium ion transport (GO:0002028)|regulation of synapse structural plasticity (GO:0051823)|regulation of synaptic transmission, GABAergic (GO:0032228)|release of sequestered calcium ion into cytosol (GO:0051209)|response to amphetamine (GO:0001975)|response to axon injury (GO:0048678)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to histamine (GO:0034776)|response to hypoxia (GO:0001666)|response to inactivity (GO:0014854)|response to iron ion (GO:0010039)|response to light stimulus (GO:0009416)|response to morphine (GO:0043278)|response to nicotine (GO:0035094)|response to toxic substance (GO:0009636)|sensory perception of smell (GO:0007608)|striatum development (GO:0021756)|synapse assembly (GO:0007416)|synaptic transmission, dopaminergic (GO:0001963)|temperature homeostasis (GO:0001659)|visual learning (GO:0008542)|Wnt signaling pathway (GO:0016055)	acrosomal vesicle (GO:0001669)|axon (GO:0030424)|axon terminus (GO:0043679)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endocytic vesicle (GO:0030139)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|sperm flagellum (GO:0036126)|synaptic vesicle membrane (GO:0030672)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity, coupled via Gi/Go (GO:0001591)|drug binding (GO:0008144)|identical protein binding (GO:0042802)|potassium channel regulator activity (GO:0015459)			endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(18)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	39		all_cancers(61;3.91e-16)|all_epithelial(67;2.95e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000977)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0494)		BRCA - Breast invasive adenocarcinoma(274;5.77e-06)|Epithelial(105;6.66e-05)|all cancers(92;0.000307)|OV - Ovarian serous cystadenocarcinoma(223;0.216)	Acepromazine(DB01614)|Acetophenazine(DB01063)|Alizapride(DB01425)|Amantadine(DB00915)|Amisulpride(DB06288)|Amoxapine(DB00543)|Amphetamine(DB00182)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Desipramine(DB01151)|Domperidone(DB01184)|Dopamine(DB00988)|Doxepin(DB01142)|Droperidol(DB00450)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Iloperidone(DB04946)|Imipramine(DB00458)|Ketamine(DB01221)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Lurasidone(DB08815)|Maprotiline(DB00934)|Memantine(DB01043)|Mesoridazine(DB00933)|Methotrimeprazine(DB01403)|Metoclopramide(DB01233)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Molindone(DB01618)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Pimozide(DB01100)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Sertindole(DB06144)|Sulpiride(DB00391)|Tetrabenazine(DB04844)|Thioproperazine(DB01622)|Thioridazine(DB00679)|Thiothixene(DB01623)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Trimipramine(DB00726)|Yohimbine(DB01392)|Ziprasidone(DB00246)	GGGAGTGCTGTGGAGACCATG	0.617																																							uc001pnz.2		NA																	0				pancreas(1)|skin(1)	2						c.(946-948)CAC>CCC		dopamine receptor D2 isoform long	Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Carphenazine(DB01038)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Domperidone(DB01184)|Droperidol(DB00450)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Mesoridazine(DB00933)|Metoclopramide(DB01233)|Minaprine(DB00805)|Molindone(DB01618)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Pimozide(DB01100)|Pramipexole(DB00413)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Sulpiride(DB00391)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Ziprasidone(DB00246)|Zuclopenthixol(DB01624)						108.0	92.0	98.0					11																	113283469		2201	4296	6497	SO:0001583	missense	1813				activation of phospholipase C activity by dopamine receptor signaling pathway|adenohypophysis development|adult walking behavior|arachidonic acid secretion|axonogenesis|behavioral response to cocaine|behavioral response to ethanol|branching morphogenesis of a nerve|cerebral cortex GABAergic interneuron migration|circadian regulation of gene expression|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|intracellular protein kinase cascade|negative regulation of blood pressure|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of dopamine receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|negative regulation of synaptic transmission, glutamatergic|neurological system process involved in regulation of systemic arterial blood pressure|peristalsis|phosphatidylinositol metabolic process|positive regulation of dopamine uptake|positive regulation of growth hormone secretion|positive regulation of neuroblast proliferation|prepulse inhibition|protein localization|regulation of heart rate|regulation of long-term neuronal synaptic plasticity|regulation of potassium ion transport|regulation of sodium ion transport|regulation of synaptic transmission, GABAergic|release of sequestered calcium ion into cytosol|response to amphetamine|response to drug|response to histamine|response to morphine|sensory perception of smell|synapse assembly|temperature homeostasis|visual learning	integral to plasma membrane	dopamine D2 receptor activity|dopamine receptor activity, coupled via Gi/Go|drug binding|potassium channel regulator activity|protein binding	g.chr11:113283469T>G	M29066	CCDS8361.1, CCDS8362.1	11q22-q23	2012-08-08						"""GPCR / Class A : Dopamine receptors"""	3023	protein-coding gene	gene with protein product		126450					Standard	NM_000795		Approved		uc001poa.4	P14416		ENST00000362072.3:c.947A>C	11.37:g.113283469T>G	ENSP00000354859:p.His316Pro					DRD2_uc010rwv.1_Missense_Mutation_p.H315P|DRD2_uc001poa.3_Missense_Mutation_p.H316P|DRD2_uc001pob.3_Missense_Mutation_p.H287P	p.H316P	NM_000795	NP_000786	P14416	DRD2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.77e-06)|Epithelial(105;6.66e-05)|all cancers(92;0.000307)|OV - Ovarian serous cystadenocarcinoma(223;0.216)	6	1268	-		all_cancers(61;3.91e-16)|all_epithelial(67;2.95e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000977)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0494)	316			Cytoplasmic (By similarity).|Interaction with PPP1R9B (By similarity).		Q9NZR3|Q9UPA9	Missense_Mutation	SNP	ENST00000362072.3	37	c.947A>C	CCDS8361.1	.	.	.	.	.	.	.	.	.	.	T	13.83	2.354235	0.41700	.	.	ENSG00000149295	ENST00000355319;ENST00000346454;ENST00000362072;ENST00000544518;ENST00000542968;ENST00000538967	T;T;T;T;T;T	0.72505	-0.64;-0.64;-0.62;-0.66;-0.62;-0.64	5.73	5.73	0.89815	GPCR, rhodopsin-like superfamily (1);	0.220719	0.45867	D	0.000323	T	0.52435	0.1734	N	0.02275	-0.615	0.37295	D	0.908429	B;B;B	0.29886	0.0;0.0;0.26	B;B;B	0.38500	0.001;0.001;0.275	T	0.59974	-0.7353	10	0.26408	T	0.33	.	15.6959	0.77499	0.0:0.0:0.0:1.0	.	315;287;316	F8VUV1;P14416-2;P14416	.;.;DRD2_HUMAN	P	318;287;316;315;316;318	ENSP00000347474:H318P;ENSP00000278597:H287P;ENSP00000354859:H316P;ENSP00000441068:H315P;ENSP00000442172:H316P;ENSP00000438215:H318P	ENSP00000278597:H287P	H	-	2	0	DRD2	112788679	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	4.844000	0.62846	2.198000	0.70561	0.533000	0.62120	CAC		0.617	DRD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395834.1	NM_000795		20	55	0	0	0	0.003271	0	20	55				
UBE4A	9354	broad.mit.edu	37	11	118239392	118239392	+	Missense_Mutation	SNP	G	G	C			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr11:118239392G>C	ENST00000431736.2	+	3	240	c.168G>C	c.(166-168)gaG>gaC	p.E56D	UBE4A_ENST00000252108.3_Missense_Mutation_p.E56D					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)		GCGTGTCAGAGAGCCTGGATG	0.443																																							uc001psw.2		NA																	0				ovary(2)|upper_aerodigestive_tract(1)|breast(1)|kidney(1)	5						c.(166-168)GAG>GAC		ubiquitination factor E4A							223.0	220.0	221.0					11																	118239392		2200	4296	6496	SO:0001583	missense	9354				ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding	g.chr11:118239392G>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.168G>C	11.37:g.118239392G>C	ENSP00000387362:p.Glu56Asp					UBE4A_uc001psv.2_Missense_Mutation_p.E56D	p.E56D	NM_004788	NP_004779	Q14139	UBE4A_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)	3	297	+	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)	56						Missense_Mutation	SNP	ENST00000431736.2	37	c.168G>C	CCDS8396.1	.	.	.	.	.	.	.	.	.	.	G	13.85	2.360553	0.41801	.	.	ENSG00000110344	ENST00000252108;ENST00000431736	T;T	0.47177	0.85;0.85	5.18	2.14	0.27477	.	0.049418	0.85682	D	0.000000	T	0.32496	0.0831	L	0.38838	1.175	0.80722	D	1	B;B	0.13594	0.005;0.008	B;B	0.13407	0.004;0.009	T	0.07462	-1.0771	10	0.20046	T	0.44	-12.9093	8.6189	0.33849	0.3131:0.0:0.6869:0.0	.	56;56	Q14139;Q14139-2	UBE4A_HUMAN;.	D	56	ENSP00000252108:E56D;ENSP00000387362:E56D	ENSP00000252108:E56D	E	+	3	2	UBE4A	117744602	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.461000	0.35255	0.716000	0.32124	0.655000	0.94253	GAG		0.443	UBE4A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398143.1	NM_004788		6	295	0	0	0	0.001984	0	6	295				
DPAGT1	1798	broad.mit.edu	37	11	118971834	118971834	+	Missense_Mutation	SNP	C	C	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr11:118971834C>T	ENST00000409993.2	-	4	1727	c.176G>A	c.(175-177)gGa>gAa	p.G59E	DPAGT1_ENST00000432443.2_Intron|DPAGT1_ENST00000354202.4_Missense_Mutation_p.G59E|DPAGT1_ENST00000445653.1_Intron			Q9H3H5	GPT_HUMAN	dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase)	59					cellular protein metabolic process (GO:0044267)|dolichol biosynthetic process (GO:0019408)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)|protein oligomerization (GO:0051259)|UDP-N-acetylglucosamine metabolic process (GO:0006047)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	phospho-N-acetylmuramoyl-pentapeptide-transferase activity (GO:0008963)|transferase activity, transferring glycosyl groups (GO:0016757)|UDP-N-acetylglucosamine-dolichyl-phosphate N-acetylglucosaminephosphotransferase activity (GO:0003975)			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	17	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.55e-05)		GCTGATCACTCCCTGGGATTC	0.557											OREG0021396	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc001pvi.2		NA																	0				breast(2)|ovary(1)	3						c.(175-177)GGA>GAA		UDP-N-acetylglucosamine-dolichyl-phosphate							44.0	40.0	42.0					11																	118971834		2200	4295	6495	SO:0001583	missense	1798				dolichol biosynthetic process|dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine|protein oligomerization	integral to endoplasmic reticulum membrane|microsome	phospho-N-acetylmuramoyl-pentapeptide-transferase activity|transferase activity, transferring glycosyl groups|UDP-N-acetylglucosamine-dolichyl-phosphate N-acetylglucosaminephosphotransferase activity	g.chr11:118971834C>T	Z82022	CCDS8411.1	11q23.3	2007-12-14			ENSG00000172269	ENSG00000172269	2.7.8.15		2995	protein-coding gene	gene with protein product		191350		DPAGT2, DPAGT		8244387	Standard	NM_001382		Approved	GPT, D11S366, DGPT, ALG7, CDG-Ij	uc001pvi.3	Q9H3H5	OTTHUMG00000153533	ENST00000409993.2:c.176G>A	11.37:g.118971834C>T	ENSP00000386597:p.Gly59Glu		OREG0021396	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1492	DPAGT1_uc001pvj.2_Intron|DPAGT1_uc009zaq.2_RNA|DPAGT1_uc001pvk.2_5'UTR|DPAGT1_uc010ryz.1_Missense_Mutation_p.G59E|DPAGT1_uc001pvm.1_5'Flank|DPAGT1_uc010rza.1_Intron	p.G59E	NM_001382	NP_001373	Q9H3H5	GPT_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.55e-05)	2	596	-	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)	59			Helical; (Potential).		O15216|Q86WV9|Q9BWE6	Missense_Mutation	SNP	ENST00000409993.2	37	c.176G>A	CCDS8411.1	.	.	.	.	.	.	.	.	.	.	C	28.3	4.912387	0.92178	.	.	ENSG00000172269	ENST00000409993;ENST00000354202	D;D	0.94232	-3.38;-3.38	5.29	5.29	0.74685	.	0.000000	0.85682	D	0.000000	D	0.97645	0.9228	M	0.94063	3.49	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98686	1.0694	10	0.87932	D	0	-7.8692	17.9346	0.89008	0.0:1.0:0.0:0.0	.	59	Q9H3H5	GPT_HUMAN	E	59	ENSP00000386597:G59E;ENSP00000346142:G59E	ENSP00000346142:G59E	G	-	2	0	DPAGT1	118477044	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.445000	0.80570	2.467000	0.83353	0.563000	0.77884	GGA		0.557	DPAGT1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331527.2	NM_001382		8	36	0	0	0	0.00308	0	8	36				
CBL	867	broad.mit.edu	37	11	119103165	119103165	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr11:119103165G>T	ENST00000264033.4	+	2	579	c.203G>T	c.(202-204)cGg>cTg	p.R68L		NM_005188.3	NP_005179.2	P22681	CBL_HUMAN	Cbl proto-oncogene, E3 ubiquitin protein ligase	68	4H.|Cbl-PTB. {ECO:0000255|PROSITE- ProRule:PRU00839}.|Sufficient for interaction with EPHB1.				cell surface receptor signaling pathway (GO:0007166)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of receptor-mediated endocytosis (GO:0048260)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|flotillin complex (GO:0016600)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|ephrin receptor binding (GO:0046875)|ligase activity (GO:0016874)|sequence-specific DNA binding transcription factor activity (GO:0003700)|SH3 domain binding (GO:0017124)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(194)|kidney(3)|large_intestine(9)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	251		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784)		CAGGTGGTGCGGTTGTGTCAG	0.408			"""T, Mis S, O"""	MLL	"""AML, JMML, MDS"""				Noonan syndrome;CBL gene-associated Juvenile Myelomonocytic Leukemia and Developmental Anomalies																														uc001pwe.2		NA		"""Dom, Rec"""	yes		11	11q23.3	867		Cas-Br-M (murine) ecotropic retroviral transforming			L					0				haematopoietic_and_lymphoid_tissue(135)|lung(10)|central_nervous_system(2)|ovary(1)|breast(1)	149						c.(202-204)CGG>CTG		Cas-Br-M (murine) ecotropic retroviral							59.0	62.0	61.0					11																	119103165		2199	4295	6494	SO:0001583	missense	867	CBL_gene-associated_Juvenile_Myelomonocytic_Leukemia_and_Developmental_Anomalies|Noonan_syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CBL-associated JMML	epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of receptor-mediated endocytosis	cytosol|nucleus	calcium ion binding|sequence-specific DNA binding transcription factor activity|SH3 domain binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr11:119103165G>T	X57110	CCDS8418.1	11q23.3	2014-09-17	2012-02-23		ENSG00000110395	ENSG00000110395		"""RING-type (C3HC4) zinc fingers"""	1541	protein-coding gene	gene with protein product	"""oncogene CBL2"""	165360	"""Cas-Br-M (murine) ecotropic retroviral transforming sequence"""	CBL2		2013228	Standard	NM_005188		Approved	RNF55, c-Cbl	uc001pwe.4	P22681	OTTHUMG00000166170	ENST00000264033.4:c.203G>T	11.37:g.119103165G>T	ENSP00000264033:p.Arg68Leu						p.R68L	NM_005188	NP_005179	P22681	CBL_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784)	2	341	+		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)	68			Cbl-PTB.|4H.		A3KMP8	Missense_Mutation	SNP	ENST00000264033.4	37	c.203G>T	CCDS8418.1	.	.	.	.	.	.	.	.	.	.	G	19.18	3.778684	0.70107	.	.	ENSG00000110395	ENST00000264033	T	0.78924	-1.22	5.76	4.84	0.62591	Adaptor protein Cbl, N-terminal helical (3);Adaptor protein Cbl, PTB domain (1);	0.165964	0.56097	N	0.000037	D	0.83945	0.5364	L	0.50333	1.59	0.80722	D	1	D	0.71674	0.998	D	0.67103	0.949	D	0.85268	0.1054	10	0.87932	D	0	-1.5342	15.2023	0.73150	0.0687:0.0:0.9313:0.0	.	68	P22681	CBL_HUMAN	L	68	ENSP00000264033:R68L	ENSP00000264033:R68L	R	+	2	0	CBL	118608375	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.932000	0.87634	2.713000	0.92767	0.655000	0.94253	CGG		0.408	CBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388219.4	NM_005188		5	41	1	0	2.0095e-06	0.001984	2.27053e-06	5	41				
CRTAM	56253	broad.mit.edu	37	11	122738263	122738263	+	Splice_Site	SNP	G	G	C			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr11:122738263G>C	ENST00000227348.4	+	8	1011	c.964G>C	c.(964-966)Gaa>Caa	p.E322Q	CRTAM_ENST00000533709.1_Splice_Site_p.E123Q	NM_019604.2	NP_062550.2			cytotoxic and regulatory T cell molecule											breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|pancreas(1)|prostate(1)	19		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.28e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0308)		ATGGAAGAAAGGTCAGTGGGC	0.458																																							uc001pyj.2		NA																	0				ovary(1)	1						c.(964-966)GAA>CAA		class-I MHC-restricted T cell associated							81.0	72.0	75.0					11																	122738263		2202	4299	6501	SO:0001630	splice_region_variant	56253				cell recognition|detection of tumor cell|positive regulation of cytokine secretion|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target	integral to membrane|plasma membrane	receptor binding	g.chr11:122738263G>C	AF001622	CCDS8437.1	11q24.1	2013-01-11			ENSG00000109943	ENSG00000109943		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"""	24313	protein-coding gene	gene with protein product	"""class I MHC restricted T cell associated molecule"""	612597				10811014, 16300832	Standard	NM_019604		Approved	CD355	uc001pyj.3	O95727	OTTHUMG00000166026	ENST00000227348.4:c.964+1G>C	11.37:g.122738263G>C						CRTAM_uc001pyk.2_Missense_Mutation_p.E123Q	p.E322Q	NM_019604	NP_062550	O95727	CRTAM_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.28e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0308)	8	964	+		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	322			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000227348.4	37	c.964G>C	CCDS8437.1	.	.	.	.	.	.	.	.	.	.	G	16.73	3.203735	0.58234	.	.	ENSG00000109943	ENST00000227348;ENST00000533709	T;T	0.71222	-0.55;0.58	5.62	5.62	0.85841	.	0.056579	0.64402	D	0.000002	D	0.83524	0.5273	M	0.72894	2.215	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.80764	0.994;0.994	D	0.84959	0.0876	10	0.87932	D	0	.	17.1549	0.86788	0.0:0.0:1.0:0.0	.	123;322	O95727-2;O95727	.;CRTAM_HUMAN	Q	322;123	ENSP00000227348:E322Q;ENSP00000433728:E123Q	ENSP00000227348:E322Q	E	+	1	0	CRTAM	122243473	1.000000	0.71417	0.984000	0.44739	0.145000	0.21501	6.053000	0.71089	2.643000	0.89663	0.655000	0.94253	GAA		0.458	CRTAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387507.1	NM_019604	Missense_Mutation	6	38	0	0	0	0.001168	0	6	38				
CLMP	79827	broad.mit.edu	37	11	123065631	123065631	+	Silent	SNP	G	G	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr11:123065631G>T	ENST00000448775.2	-	1	358	c.18C>A	c.(16-18)ctC>ctA	p.L6L	CTD-2216M2.1_ENST00000531681.1_RNA	NM_024769.2	NP_079045.1	Q9H6B4	CLMP_HUMAN	CXADR-like membrane protein	6					digestive tract development (GO:0048565)	cell surface (GO:0009986)|cytoplasmic microtubule (GO:0005881)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				endometrium(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	14						CTAGCAAGAGGAGAAGGAGGA	0.711																																							uc001pyt.2		NA																	0					0						c.(16-18)CTC>CTA		adipocyte-specific adhesion molecule precursor							39.0	41.0	40.0					11																	123065631		2200	4299	6499	SO:0001819	synonymous_variant	79827					integral to membrane|tight junction		g.chr11:123065631G>T	BC009371	CCDS8441.1	11q24	2013-01-29			ENSG00000166250	ENSG00000166250		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	24039	protein-coding gene	gene with protein product	"""adipocyte-specific adhesion molecule"", ""coxsackie- and adenovirus receptor-like membrane protein"", ""adipocyte adhesion molecule"""	611693				12851705, 14573622	Standard	NM_024769		Approved	ASAM, FLJ22415, ACAM	uc001pyt.3	Q9H6B4		ENST00000448775.2:c.18C>A	11.37:g.123065631G>T							p.L6L	NM_024769	NP_079045	Q9H6B4	CLMP_HUMAN		BRCA - Breast invasive adenocarcinoma(274;8.73e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0446)	1	377	-		Breast(109;0.0025)|Lung NSC(97;0.0179)|all_lung(97;0.0182)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)	6						Silent	SNP	ENST00000448775.2	37	c.18C>A	CCDS8441.1																																																																																				0.711	CLMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387542.1	NM_024769		4	28	1	0	0.00116845	0.001168	0.00123451	4	28				
OR6T1	219874	broad.mit.edu	37	11	123813849	123813849	+	Nonsense_Mutation	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr11:123813849C>A	ENST00000321252.2	-	1	731	c.697G>T	c.(697-699)Gag>Tag	p.E233*		NM_001005187.1	NP_001005187.1	Q8NGN1	OR6T1_HUMAN	olfactory receptor, family 6, subfamily T, member 1	233						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		TTCCTTCGCTCAGCAGCTGTA	0.507																																							uc010sab.1		NA																	0				ovary(1)	1						c.(697-699)GAG>TAG		olfactory receptor, family 6, subfamily T,							107.0	97.0	101.0					11																	123813849		2202	4299	6501	SO:0001587	stop_gained	219874				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123813849C>A	AB065759	CCDS31700.1	11q24.1	2012-08-09			ENSG00000181499	ENSG00000181499		"""GPCR / Class A : Olfactory receptors"""	14848	protein-coding gene	gene with protein product							Standard	NM_001005187		Approved		uc010sab.2	Q8NGN1	OTTHUMG00000165962	ENST00000321252.2:c.697G>T	11.37:g.123813849C>A	ENSP00000325203:p.Glu233*						p.E233*	NM_001005187	NP_001005187	Q8NGN1	OR6T1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)	1	697	-		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	233			Cytoplasmic (Potential).		Q6IFE7	Nonsense_Mutation	SNP	ENST00000321252.2	37	c.697G>T	CCDS31700.1	.	.	.	.	.	.	.	.	.	.	C	9.715	1.158156	0.21454	.	.	ENSG00000181499	ENST00000321252	.	.	.	3.7	1.74	0.24563	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	-29.5988	6.4087	0.21678	0.0:0.7038:0.1865:0.1097	.	.	.	.	X	233	.	ENSP00000325203:E233X	E	-	1	0	OR6T1	123319059	0.000000	0.05858	0.006000	0.13384	0.047000	0.14425	-0.301000	0.08232	0.216000	0.20781	0.563000	0.77884	GAG		0.507	OR6T1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387264.1	NM_001005187		30	15	1	0	7.11191e-15	0.002836	9.52977e-15	30	15				
OR10G7	390265	broad.mit.edu	37	11	123909520	123909520	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr11:123909520G>T	ENST00000330487.5	-	1	197	c.189C>A	c.(187-189)aaC>aaA	p.N63K		NM_001004463.1	NP_001004463.1	Q8NGN6	O10G7_HUMAN	olfactory receptor, family 10, subfamily G, member 7	63						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)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(6)|lung(20)|ovary(2)|prostate(2)|stomach(3)|urinary_tract(1)	47		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		TGAAGGACAGGTTGGTGAGGA	0.552																																							uc001pzq.1		NA																	0				ovary(2)	2						c.(187-189)AAC>AAA		olfactory receptor, family 10, subfamily G,							21.0	21.0	21.0					11																	123909520		2195	4270	6465	SO:0001583	missense	390265				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123909520G>T	AB065754	CCDS31705.1	11q24.1	2012-08-09			ENSG00000182634	ENSG00000182634		"""GPCR / Class A : Olfactory receptors"""	14842	protein-coding gene	gene with protein product							Standard	NM_001004463		Approved		uc001pzq.1	Q8NGN6	OTTHUMG00000165969	ENST00000330487.5:c.189C>A	11.37:g.123909520G>T	ENSP00000329689:p.Asn63Lys						p.N63K	NM_001004463	NP_001004463	Q8NGN6	O10G7_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)	1	189	-		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	63			Helical; Name=2; (Potential).		Q6IFE8	Missense_Mutation	SNP	ENST00000330487.5	37	c.189C>A	CCDS31705.1	.	.	.	.	.	.	.	.	.	.	G	14.63	2.591475	0.46214	.	.	ENSG00000182634	ENST00000330487	T	0.12879	2.64	3.39	1.49	0.22878	GPCR, rhodopsin-like superfamily (1);	0.422805	0.19930	N	0.102892	T	0.28101	0.0693	M	0.86651	2.83	0.33872	D	0.635091	P	0.52692	0.955	P	0.55161	0.77	T	0.33727	-0.9857	10	0.49607	T	0.09	.	4.2127	0.10519	0.304:0.173:0.5229:0.0	.	63	Q8NGN6	O10G7_HUMAN	K	63	ENSP00000329689:N63K	ENSP00000329689:N63K	N	-	3	2	OR10G7	123414730	0.904000	0.30761	0.996000	0.52242	0.931000	0.56810	0.562000	0.23531	0.271000	0.22005	0.455000	0.32223	AAC		0.552	OR10G7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387271.1	NM_001004463		4	74	1	0	2.32078e-09	0.003163	2.82811e-09	4	74				
Unknown	0	broad.mit.edu	37	11	124096007	124096007	+	IGR	SNP	A	A	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr11:124096007A>T								OR10D3 (39055 upstream) : OR8G1 (24415 downstream)																							CTCCTGCTCCAGCACCTACAT	0.423																																							uc010saf.1		NA																	0					0						c.(610-612)AGC>TGC		olfactory receptor, family 8, subfamily G,							143.0	150.0	148.0					11																	124096007		1979	4193	6172	SO:0001628	intergenic_variant	26492					integral to membrane	olfactory receptor activity	g.chr11:124096007A>T																													11.37:g.124096007A>T							p.S204C	NM_001007249	NP_001007250	Q15614	OR8G2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.91e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528)	1	610	+		Breast(109;0.0157)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	204						Missense_Mutation	SNP		37	c.610A>T																																																																																				0	0.423									24	66	0	0	0	0.004656	0	24	66				
ROBO3	64221	broad.mit.edu	37	11	124743218	124743218	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr11:124743218G>T	ENST00000397801.1	+	10	1741	c.1549G>T	c.(1549-1551)Ggc>Tgc	p.G517C	ROBO3_ENST00000538940.1_Missense_Mutation_p.G495C	NM_022370.3	NP_071765.2	Q96MS0	ROBO3_HUMAN	roundabout, axon guidance receptor, homolog 3 (Drosophila)	517	Ig-like C2-type 5.				axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|neuron migration (GO:0001764)	axon (GO:0030424)|integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	35	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)		GATGGACATGGGCTTCTACAG	0.542																																							uc001qbc.2		NA																	0				breast(1)|central_nervous_system(1)	2						c.(1549-1551)GGC>TGC		roundabout, axon guidance receptor, homolog 3							56.0	62.0	60.0					11																	124743218		1969	4154	6123	SO:0001583	missense	64221				axon midline choice point recognition	integral to membrane	receptor activity	g.chr11:124743218G>T	AK024697	CCDS44755.1	11q24	2013-02-11	2001-11-28		ENSG00000154134	ENSG00000154134		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	13433	protein-coding gene	gene with protein product		608630	"""roundabout (axon guidance receptor, Drosophila) homolog 3"", ""horizontal gaze palsy with progressive scoliosis"""	HGPPS		15105459	Standard	NM_022370		Approved	RBIG1, FLJ21044, HGPS	uc001qbc.3	Q96MS0	OTTHUMG00000165934	ENST00000397801.1:c.1549G>T	11.37:g.124743218G>T	ENSP00000380903:p.Gly517Cys						p.G517C	NM_022370	NP_071765	Q96MS0	ROBO3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)	10	1741	+	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)	517			Ig-like C2-type 5.|Extracellular (Potential).			Missense_Mutation	SNP	ENST00000397801.1	37	c.1549G>T	CCDS44755.1	.	.	.	.	.	.	.	.	.	.	G	17.70	3.454467	0.63290	.	.	ENSG00000154134	ENST00000397801;ENST00000538940	T;T	0.60797	0.16;0.16	4.89	4.89	0.63831	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.197564	0.25478	N	0.030400	D	0.86892	0.6042	H	0.99425	4.56	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92581	0.6074	10	0.87932	D	0	.	16.9991	0.86377	0.0:0.0:1.0:0.0	.	517	Q96MS0	ROBO3_HUMAN	C	517;495	ENSP00000380903:G517C;ENSP00000441797:G495C	ENSP00000380903:G517C	G	+	1	0	ROBO3	124248428	1.000000	0.71417	0.107000	0.21349	0.762000	0.43233	8.485000	0.90448	2.548000	0.85928	0.455000	0.32223	GGC		0.542	ROBO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387091.1	XM_370663		4	11	1	0	0.00116845	0.001168	0.00123451	4	11				
CCDC15	80071	broad.mit.edu	37	11	124857495	124857495	+	Missense_Mutation	SNP	A	A	C	rs113451248	byFrequency	TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr11:124857495A>C	ENST00000344762.5	+	8	1632	c.1373A>C	c.(1372-1374)cAc>cCc	p.H458P	CCDC15_ENST00000529051.1_Missense_Mutation_p.H458P	NM_025004.2	NP_079280.2	Q0P6D6	CCD15_HUMAN	coiled-coil domain containing 15	458						centrosome (GO:0005813)				central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(1)	23	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.68e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0413)		CATGTTCTCCACAAAGACCAA	0.418													C|||	6	0.00119808	0.0008	0.0	5008	,	,		19182	0.005		0.0	False		,,,				2504	0.0						uc001qbm.3		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(1372-1374)CAC>CCC		coiled-coil domain containing 15		C	PRO/HIS	5,3679		0,5,1837	109.0	105.0	106.0		1373	-1.4	0.0	11	dbSNP_132	106	0,8170		0,0,4085	yes	missense	CCDC15	NM_025004.2	77	0,5,5922	CC,CA,AA		0.0,0.1357,0.0422	benign	458/952	124857495	5,11849	1842	4085	5927	SO:0001583	missense	80071					centrosome		g.chr11:124857495A>C	BC018540	CCDS44756.1	11q24.2	2008-02-05			ENSG00000149548	ENSG00000149548			25798	protein-coding gene	gene with protein product							Standard	NM_025004		Approved	FLJ13215	uc001qbm.4	Q0P6D6	OTTHUMG00000165940	ENST00000344762.5:c.1373A>C	11.37:g.124857495A>C	ENSP00000341684:p.His458Pro						p.H458P	NM_025004	NP_079280	Q0P6D6	CCD15_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.68e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0413)	8	1632	+	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	458					Q9H8U7	Missense_Mutation	SNP	ENST00000344762.5	37	c.1373A>C	CCDS44756.1	5	0.0022893772893772895	0	0.0	0	0.0	5	0.008741258741258742	0	0.0	C	0.007	-1.935858	0.00484	0.001357	0.0	ENSG00000149548	ENST00000529051;ENST00000344762	T;T	0.29142	1.6;1.58	3.32	-1.4	0.08968	.	.	.	.	.	T	0.04272	0.0118	N	0.00841	-1.15	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.29882	-0.9997	9	0.02654	T	1	0.0636	3.381	0.07255	0.5595:0.2054:0.1382:0.0969	.	458	Q0P6D6	CCD15_HUMAN	P	458	ENSP00000435403:H458P;ENSP00000341684:H458P	ENSP00000341684:H458P	H	+	2	0	CCDC15	124362705	.	.	0.000000	0.03702	0.085000	0.17905	.	.	-0.576000	0.05974	-0.215000	0.12644	CAC		0.418	CCDC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387131.1	NM_025004		3	62	0	0	0	0.004672	0	3	62				
ETS1	2113	broad.mit.edu	37	11	128426243	128426243	+	Missense_Mutation	SNP	A	A	G			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr11:128426243A>G	ENST00000392668.4	-	3	241	c.157T>C	c.(157-159)Ttt>Ctt	p.F53L	ETS1_ENST00000525404.1_5'UTR	NM_001143820.1	NP_001137292.1	P14921	ETS1_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog 1	151	PNT. {ECO:0000255|PROSITE- ProRule:PRU00762}.				angiogenesis involved in wound healing (GO:0060055)|cell motility (GO:0048870)|cellular response to hydrogen peroxide (GO:0070301)|estrous cycle phase (GO:0060206)|female pregnancy (GO:0007565)|hypothalamus development (GO:0021854)|immune response (GO:0006955)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|pituitary gland development (GO:0021983)|PML body organization (GO:0030578)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular component movement (GO:0051272)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of angiogenesis (GO:0045765)|regulation of apoptotic process (GO:0042981)|regulation of extracellular matrix disassembly (GO:0010715)|response to antibiotic (GO:0046677)|response to estradiol (GO:0032355)|response to hypoxia (GO:0001666)|response to interleukin-1 (GO:0070555)|response to laminar fluid shear stress (GO:0034616)|response to mechanical stimulus (GO:0009612)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|pleura(1)|prostate(1)|upper_aerodigestive_tract(3)	35	all_hematologic(175;0.0537)	Lung NSC(97;0.000542)|all_lung(97;0.000665)|Breast(109;0.00765)|all_neural(223;0.0351)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;1.47e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0174)|LUSC - Lung squamous cell carcinoma(976;0.0815)|Lung(307;0.0833)		TCATCCCAAAAGGGGTAGCAA	0.448																																							uc001qej.2		NA																	0				lung(4)|central_nervous_system(1)|pleura(1)	6						c.(157-159)TTT>CTT		v-ets erythroblastosis virus E26 oncogene							155.0	134.0	140.0					11																	128426243		1566	3579	5145	SO:0001583	missense	2113				cell motility|immune response|induction of apoptosis|negative regulation of cell cycle|negative regulation of cell cycle|negative regulation of cell proliferation|PML body organization|positive regulation of cellular component movement|positive regulation of erythrocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|response to antibiotic|transcription from RNA polymerase II promoter	nucleus|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr11:128426243A>G		CCDS8475.1, CCDS44767.1, CCDS53724.1	11q23.3	2013-07-09	2013-07-09		ENSG00000134954	ENSG00000134954			3488	protein-coding gene	gene with protein product	"""Avian erythroblastosis virus E26 (v-ets) oncogene homolog-1"", ""ets protein"""	164720		EWSR2		1522903	Standard	NM_005238		Approved	FLJ10768, ETS-1	uc001qej.2	P14921	OTTHUMG00000165799	ENST00000392668.4:c.157T>C	11.37:g.128426243A>G	ENSP00000376436:p.Phe53Leu						p.F53L	NM_001143820	NP_001137292	P14921	ETS1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.47e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0174)|LUSC - Lung squamous cell carcinoma(976;0.0815)|Lung(307;0.0833)	3	242	-	all_hematologic(175;0.0537)	Lung NSC(97;0.000542)|all_lung(97;0.000665)|Breast(109;0.00765)|all_neural(223;0.0351)|Medulloblastoma(222;0.0425)	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					A9UL17|F5GYX9|Q14278|Q16080|Q6N087|Q96AC5	Missense_Mutation	SNP	ENST00000392668.4	37	c.157T>C	CCDS44767.1	.	.	.	.	.	.	.	.	.	.	A	4.254	0.046125	0.08243	.	.	ENSG00000134954	ENST00000392668	T	0.08546	3.08	5.91	-0.172	0.13327	.	31.137600	0.02836	U	0.127298	T	0.04003	0.0112	.	.	.	0.18873	N	0.999987	B	0.02656	0.0	B	0.01281	0.0	T	0.36696	-0.9737	9	0.02654	T	1	.	9.9312	0.41523	0.4387:0.0:0.5613:0.0	.	53	Q6N087	.	L	53	ENSP00000376436:F53L	ENSP00000376436:F53L	F	-	1	0	ETS1	127931453	0.028000	0.19301	0.100000	0.21137	0.969000	0.65631	0.081000	0.14823	-0.052000	0.13311	0.533000	0.62120	TTT		0.448	ETS1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000386267.2	NM_005238		3	64	0	0	0	0.009096	0	3	64				
NFRKB	4798	broad.mit.edu	37	11	129762741	129762741	+	Missense_Mutation	SNP	C	C	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr11:129762741C>T	ENST00000446488.3	-	2	107	c.4G>A	c.(4-6)Gat>Aat	p.D2N	NFRKB_ENST00000524746.1_Missense_Mutation_p.D2N|NFRKB_ENST00000524794.1_Missense_Mutation_p.D15N|NFRKB_ENST00000526940.1_Missense_Mutation_p.D2N|NFRKB_ENST00000304521.5_Missense_Mutation_p.D2N	NM_001143835.1	NP_001137307.1	Q6P4R8	NFRKB_HUMAN	nuclear factor related to kappaB binding protein	2					DNA recombination (GO:0006310)|DNA repair (GO:0006281)|inflammatory response (GO:0006954)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	Ino80 complex (GO:0031011)|nucleus (GO:0005634)	DNA binding (GO:0003677)|protease binding (GO:0002020)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(13)|ovary(4)|skin(3)|urinary_tract(1)	32	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0167)|Lung(977;0.171)|LUSC - Lung squamous cell carcinoma(976;0.184)		TCTAAGGAATCCATTGTTTCT	0.507																																							uc001qfi.2		NA																	0				ovary(3)	3						c.(4-6)GAT>AAT		nuclear factor related to kappaB binding protein							188.0	159.0	169.0					11																	129762741		2201	4297	6498	SO:0001583	missense	4798				DNA recombination|DNA repair|inflammatory response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Ino80 complex	DNA binding|protease binding	g.chr11:129762741C>T		CCDS8483.1, CCDS44770.1	11q24-q25	2011-07-06			ENSG00000170322	ENSG00000170322		"""INO80 complex subunits"""	7802	protein-coding gene	gene with protein product	"""nuclear factor related to kappa B binding protein"", ""DNA-binding protein R kappa B"", ""INO80 complex subunit G"""	164013				1427843	Standard	NM_006165		Approved	DKFZp547B2013, INO80G	uc001qfg.3	Q6P4R8	OTTHUMG00000165761	ENST00000446488.3:c.4G>A	11.37:g.129762741C>T	ENSP00000400476:p.Asp2Asn					NFRKB_uc001qfg.2_Missense_Mutation_p.D15N|NFRKB_uc001qfh.2_Missense_Mutation_p.D25N|NFRKB_uc010sbw.1_Missense_Mutation_p.D2N	p.D2N	NM_001143835	NP_001137307	Q6P4R8	NFRKB_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0167)|Lung(977;0.171)|LUSC - Lung squamous cell carcinoma(976;0.184)	3	205	-	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)	2					Q12869|Q15312|Q9H048	Missense_Mutation	SNP	ENST00000446488.3	37	c.4G>A	CCDS44770.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.540471	0.85917	.	.	ENSG00000170322	ENST00000304521;ENST00000446488;ENST00000524794;ENST00000524746;ENST00000531755;ENST00000532225;ENST00000529319;ENST00000526940;ENST00000526884;ENST00000531318	.	.	.	5.03	5.03	0.67393	.	0.052219	0.85682	D	0.000000	T	0.71500	0.3347	L	0.51422	1.61	0.52099	D	0.999943	D;D;D;D	0.60160	0.978;0.978;0.987;0.987	P;P;P;P	0.57009	0.651;0.651;0.811;0.811	T	0.75045	-0.3456	9	0.72032	D	0.01	-11.3021	18.4161	0.90571	0.0:1.0:0.0:0.0	.	2;2;2;15	B4DSL1;Q6P4R8;Q6P4R8-3;Q6P4R8-2	.;NFRKB_HUMAN;.;.	N	2;2;15;2;2;2;2;2;2;2	.	ENSP00000303800:D2N	D	-	1	0	NFRKB	129267951	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.463000	0.80869	2.346000	0.79739	0.585000	0.79938	GAT		0.507	NFRKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386063.2	NM_006165		12	96	0	0	0	0.00245	0	12	96				
WNK1	65125	broad.mit.edu	37	12	977998	977998	+	Intron	SNP	G	G	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr12:977998G>T	ENST00000315939.6	+	9	2782				WNK1_ENST00000537687.1_Nonsense_Mutation_p.E1036*|WNK1_ENST00000530271.2_Nonsense_Mutation_p.E1121*|WNK1_ENST00000535572.1_Intron|WNK1_ENST00000340908.4_Intron|WNK1_ENST00000574564.1_Nonsense_Mutation_p.E335*	NM_018979.3	NP_061852.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1						intracellular signal transduction (GO:0035556)|ion transport (GO:0006811)|negative regulation of pancreatic juice secretion (GO:0090188)|negative regulation of phosphatase activity (GO:0010923)|neuron development (GO:0048666)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of systemic arterial blood pressure (GO:0003084)|protein phosphorylation (GO:0006468)|regulation of cellular process (GO:0050794)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|phosphatase binding (GO:0019902)|protein kinase inhibitor activity (GO:0004860)|protein serine/threonine kinase activity (GO:0004674)			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			TTCTGTGGTAGAGCCTATCGG	0.473																																					Colon(19;451 567 6672 12618 28860)		uc001qiq.2		NA																	0					0						c.(1003-1005)GAG>TAG		hereditary sensory neuropathy, type II							79.0	79.0	79.0					12																	977998		1888	4112	6000	SO:0001627	intron_variant	378465							g.chr12:977998G>T	AJ296290	CCDS8506.1, CCDS53731.1, CCDS73419.1	12p13.3	2014-09-17	2005-01-19	2005-01-21	ENSG00000060237	ENSG00000060237			14540	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 167"""	605232	"""protein kinase, lysine deficient 1"", ""hereditary sensory neuropathy, type II"""	PRKWNK1, HSN2			Standard	NM_001184985		Approved	HSAN2, PPP1R167	uc031qfk.1	Q9H4A3	OTTHUMG00000090321	ENST00000315939.6:c.2140-2433G>T	12.37:g.977998G>T						WNK1_uc001qio.3_Intron|WNK1_uc001qip.3_Intron|WNK1_uc001qir.3_Intron	p.E335*	NM_213655	NP_998820			OV - Ovarian serous cystadenocarcinoma(31;0.000967)|BRCA - Breast invasive adenocarcinoma(9;0.0178)		1	1129	+	all_cancers(10;0.0107)|all_epithelial(11;0.0151)|Ovarian(42;0.0512)|all_lung(10;0.0521)|Lung NSC(10;0.0987)							A1L4B0|C5HTZ5|C5HTZ6|C5HTZ7|H6WZW3|O15052|P54963|Q4VBX9|Q6IFS5|Q86WL5|Q8N673|Q96CZ6|Q9P1S9	Nonsense_Mutation	SNP	ENST00000315939.6	37	c.1003G>T	CCDS8506.1	.	.	.	.	.	.	.	.	.	.	G	18.67	3.674651	0.67928	.	.	ENSG00000060237	ENST00000537687;ENST00000530271	.	.	.	5.97	5.97	0.96955	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.5671	0.68185	0.0694:0.0:0.9306:0.0	.	.	.	.	X	1036;1121	.	ENSP00000433548:E1121X	E	+	1	0	WNK1	848259	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	5.868000	0.69605	2.834000	0.97654	0.557000	0.71058	GAG		0.473	WNK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206683.1	NM_018979		58	17	1	0	3.86002e-21	0.00361	5.57988e-21	58	17				
ERC1	23085	broad.mit.edu	37	12	1481101	1481101	+	Silent	SNP	G	G	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr12:1481101G>A	ENST00000397203.2	+	16	3289	c.2883G>A	c.(2881-2883)ctG>ctA	p.L961L	ERC1_ENST00000360905.4_Silent_p.L961L|ERC1_ENST00000589028.1_Silent_p.L961L|ERC1_ENST00000543086.3_Silent_p.L933L|ERC1_ENST00000546231.2_Silent_p.L965L|ERC1_ENST00000355446.5_Silent_p.L961L			Q8IUD2	RB6I2_HUMAN	ELKS/RAB6-interacting/CAST family member 1	961					I-kappaB phosphorylation (GO:0007252)|multicellular organismal development (GO:0007275)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein transport (GO:0015031)|regulation of transcription, DNA-templated (GO:0006355)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|IkappaB kinase complex (GO:0008385)|presynaptic membrane (GO:0042734)	leucine zipper domain binding (GO:0043522)			NS(1)|breast(2)|cervix(2)|endometrium(2)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_epithelial(11;0.0698)|Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567)			TGGCTGCCCTGAAGCGGGAGA	0.502																																							uc001qjb.2		NA																	0				ovary(2)|lung(2)|breast(1)	5						c.(2881-2883)CTG>CTA		RAB6-interacting protein 2 isoform epsilon							51.0	52.0	51.0					12																	1481101		2203	4300	6503	SO:0001819	synonymous_variant	23085				I-kappaB phosphorylation|multicellular organismal development|positive regulation of anti-apoptosis|positive regulation of NF-kappaB transcription factor activity|protein transport	Golgi membrane|IkappaB kinase complex|presynaptic membrane	leucine zipper domain binding	g.chr12:1481101G>A	AB015617	CCDS8508.1, CCDS53732.1	12p13.3	2008-02-05	2006-08-14	2006-08-14	ENSG00000082805	ENSG00000082805			17072	protein-coding gene	gene with protein product		607127	"""RAB6 interacting protein 2"""	RAB6IP2		10697956, 11929610	Standard	NM_178040		Approved	ELKS, KIAA1081, CAST2, MGC12974	uc001qjb.2	Q8IUD2	OTTHUMG00000130138	ENST00000397203.2:c.2883G>A	12.37:g.1481101G>A						ERC1_uc001qiz.2_RNA|ERC1_uc001qjc.2_Silent_p.L933L|ERC1_uc001qja.2_RNA|ERC1_uc001qjd.2_RNA|ERC1_uc001qjf.2_Silent_p.L961L|ERC1_uc010sdv.1_Silent_p.L669L|ERC1_uc001qje.2_RNA	p.L961L	NM_178040	NP_829884	Q8IUD2	RB6I2_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567)		16	3124	+	all_epithelial(11;0.0698)|Ovarian(42;0.107)		961			Potential.		A2RU77|A7E295|D3DUP7|D3DUP8|Q6NVK2|Q8IUD3|Q8IUD4|Q8IUD5|Q8NAS1|Q9NXN5|Q9UIK7|Q9UPS1	Silent	SNP	ENST00000397203.2	37	c.2883G>A	CCDS8508.1																																																																																				0.502	ERC1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398380.2	NM_015064		12	39	0	0	0	0.001855	0	12	39				
KCNA6	3742	broad.mit.edu	37	12	4920437	4920437	+	Silent	SNP	G	G	A	rs148141793		TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr12:4920437G>A	ENST00000280684.3	+	1	2096	c.1230G>A	c.(1228-1230)ccG>ccA	p.P410P	RP11-234B24.4_ENST00000542988.1_lincRNA|KCNA6_ENST00000433855.1_Silent_p.P410P			P17658	KCNA6_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 6	410					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5)	49					Dalfampridine(DB06637)	CCAGCATCCCGGATGCCTTCT	0.567										HNSCC(72;0.22)																													uc001qng.2		NA																	0				skin(2)|ovary(1)	3						c.(1228-1230)CCG>CCA		potassium voltage-gated channel, shaker-related							135.0	116.0	122.0					12																	4920437		2203	4300	6503	SO:0001819	synonymous_variant	3742					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr12:4920437G>A	X17622	CCDS8534.1	12p13	2014-06-12						"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6225	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 96"""	176257				16382104	Standard	NM_002235		Approved	Kv1.6, HBK2, PPP1R96	uc001qng.3	P17658		ENST00000280684.3:c.1230G>A	12.37:g.4920437G>A		HNSCC(72;0.22)					p.P410P	NM_002235	NP_002226	P17658	KCNA6_HUMAN			1	2096	+			410						Silent	SNP	ENST00000280684.3	37	c.1230G>A	CCDS8534.1																																																																																				0.567	KCNA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398909.1	NM_002235		49	82	0	0	0	0.00361	0	49	82				
A2M	2	broad.mit.edu	37	12	9224999	9224999	+	Missense_Mutation	SNP	A	A	C			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr12:9224999A>C	ENST00000318602.7	-	31	4366	c.4059T>G	c.(4057-4059)gaT>gaG	p.D1353E		NM_000014.4	NP_000005	P01023	A2MG_HUMAN	alpha-2-macroglobulin	1353					blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of complement activation, lectin pathway (GO:0001869)|negative regulation of endopeptidase activity (GO:0010951)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|stem cell differentiation (GO:0048863)	blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule lumen (GO:0031093)	calcium-dependent protein binding (GO:0048306)|enzyme binding (GO:0019899)|growth factor binding (GO:0019838)|interleukin-1 binding (GO:0019966)|interleukin-8 binding (GO:0019959)|protease binding (GO:0002020)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867)|tumor necrosis factor binding (GO:0043120)			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)|Ocriplasmin(DB08888)	CTTTGGGTTCATCACAAGTTT	0.428																																							uc001qvk.1		NA																	0				central_nervous_system(4)|skin(1)	5						c.(4057-4059)GAT>GAG		alpha-2-macroglobulin precursor	Bacitracin(DB00626)|Becaplermin(DB00102)						134.0	135.0	134.0					12																	9224999		2020	4229	6249	SO:0001583	missense	2				blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding	g.chr12:9224999A>C	BX647329, X68728, M11313	CCDS44827.1	12p13.31	2010-02-24			ENSG00000175899	ENSG00000175899			7	protein-coding gene	gene with protein product		103950					Standard	XM_006719056		Approved	FWP007, S863-7, CPAMD5	uc001qvk.1	P01023	OTTHUMG00000150267	ENST00000318602.7:c.4059T>G	12.37:g.9224999A>C	ENSP00000323929:p.Asp1353Glu					A2M_uc001qvj.1_Missense_Mutation_p.D395E|A2M_uc009zgk.1_Missense_Mutation_p.D1203E	p.D1353E	NM_000014	NP_000005	P01023	A2MG_HUMAN			31	4172	-			1353					Q13677|Q59F47|Q5QTS0|Q68DN2|Q6PIY3|Q6PN97	Missense_Mutation	SNP	ENST00000318602.7	37	c.4059T>G	CCDS44827.1	.	.	.	.	.	.	.	.	.	.	A	7.337	0.620135	0.14193	.	.	ENSG00000175899	ENST00000318602;ENST00000540099	T	0.29397	1.57	5.99	-6.26	0.02033	Alpha-macroglobulin, receptor-binding (2);	0.957816	0.08726	N	0.902785	T	0.13030	0.0316	N	0.21545	0.675	0.09310	N	1	B	0.06786	0.001	B	0.09377	0.004	T	0.25779	-1.0122	10	0.23302	T	0.38	.	0.9529	0.01379	0.3007:0.2882:0.2315:0.1796	.	1353	P01023	A2MG_HUMAN	E	1353;1368	ENSP00000323929:D1353E	ENSP00000323929:D1353E	D	-	3	2	A2M	9116266	0.000000	0.05858	0.116000	0.21606	0.062000	0.15995	-0.323000	0.07997	-1.648000	0.01510	-1.572000	0.00871	GAT		0.428	A2M-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317233.2	NM_000014		4	35	0	0	0	0.001168	0	4	35				
ATF7IP	55729	broad.mit.edu	37	12	14649278	14649278	+	Splice_Site	SNP	G	G	A	rs372005685		TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr12:14649278G>A	ENST00000540793.1	+	13	3548		c.e13+1		ATF7IP_ENST00000261168.4_Splice_Site|ATF7IP_ENST00000536444.1_Splice_Site|ATF7IP_ENST00000544627.1_Splice_Site			Q6VMQ6	MCAF1_HUMAN	activating transcription factor 7 interacting protein						DNA methylation (GO:0006306)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0045898)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleus (GO:0005634)				cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	54						AGTGCATACTGTAAGTGTTGA	0.388																																							uc001rbw.2		NA																	0				lung(3)|ovary(1)|skin(1)	5						c.e14+1		activating transcription factor 7 interacting		G		0,4406		0,0,2203	106.0	80.0	89.0			5.0	1.0	12		89	1,8599		0,1,4299	no	splice-5	ATF7IP	NM_018179.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077			14649278	1,13005	2203	4300	6503	SO:0001630	splice_region_variant	55729				DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent		protein binding	g.chr12:14649278G>A	AJ242978	CCDS8663.1, CCDS66326.1, CCDS66327.1, CCDS73449.1	12p13.1	2005-11-18				ENSG00000171681			20092	protein-coding gene	gene with protein product		613644				10976766, 10777215	Standard	XM_005253424		Approved	FLJ10688, p621	uc001rbw.3	Q6VMQ6		ENST00000540793.1:c.3393+1G>A	12.37:g.14649278G>A						ATF7IP_uc001rbx.2_Splice_Site_p.T1130_splice|ATF7IP_uc001rby.3_Splice_Site_p.T1131_splice|ATF7IP_uc001rca.2_Splice_Site_p.T1131_splice	p.T1131_splice	NM_018179	NP_060649	Q6VMQ6	MCAF1_HUMAN			14	3551	+								F5GX74|G3V1U0|Q4G0T9|Q6P3T3|Q86XW5|Q9NVJ9|Q9NWC2|Q9Y4X8	Splice_Site	SNP	ENST00000540793.1	37	c.3393_splice	CCDS8663.1	.	.	.	.	.	.	.	.	.	.	G	19.12	3.765760	0.69878	0.0	1.16E-4	ENSG00000171681	ENST00000261168;ENST00000536444;ENST00000544627;ENST00000540793	.	.	.	5.02	5.02	0.67125	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.1258	0.53917	0.0795:0.0:0.9205:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ATF7IP	14540545	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	5.297000	0.65704	2.488000	0.83962	0.453000	0.30009	.		0.388	ATF7IP-024	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000401400.1	NM_018179	Intron	34	17	0	0	0	0.00874	0	34	17				
SLCO1B3	28234	broad.mit.edu	37	12	21028237	21028237	+	Nonsense_Mutation	SNP	G	G	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr12:21028237G>T	ENST00000381545.3	+	9	1015	c.796G>T	c.(796-798)Gga>Tga	p.G266*	LST3_ENST00000540229.1_Nonsense_Mutation_p.G266*|SLCO1B3_ENST00000261196.2_Nonsense_Mutation_p.G266*|SLCO1B7_ENST00000554957.1_Intron|LST3_ENST00000381541.3_Intron|SLCO1B3_ENST00000553473.1_Nonsense_Mutation_p.G266*	NM_019844.3	NP_062818.1	Q9NPD5	SO1B3_HUMAN	solute carrier organic anion transporter family, member 1B3	266					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	organic anion transmembrane transporter activity (GO:0008514)			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)				Atorvastatin(DB01076)|Cabazitaxel(DB06772)|Caspofungin(DB00520)|Conjugated Estrogens(DB00286)|Dabrafenib(DB08912)|Digoxin(DB00390)|Docetaxel(DB01248)|Estradiol(DB00783)|Fexofenadine(DB00950)|Fluvastatin(DB01095)|Gadoxetate(DB08884)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Olmesartan(DB00275)|Ouabain(DB01092)|Paclitaxel(DB01229)|Pioglitazone(DB01132)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Rosuvastatin(DB01098)|Valsartan(DB00177)	CCTTGTGTCTGGACTATTTTC	0.373																																							uc001rek.2		NA																	0				large_intestine(2)|ovary(1)|skin(1)	4						c.(796-798)GGA>TGA		solute carrier organic anion transporter family,							205.0	200.0	202.0					12																	21028237		2203	4300	6503	SO:0001587	stop_gained	28234				bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity	g.chr12:21028237G>T		CCDS8684.1	12p12	2013-05-22	2003-11-25	2003-11-26		ENSG00000111700		"""Solute carriers"""	10961	protein-coding gene	gene with protein product		605495	"""solute carrier family 21 (organic anion transporter), member 8"""	SLC21A8			Standard	NM_019844		Approved	OATP8, OATP1B3	uc001rel.4	Q9NPD5	OTTHUMG00000169011	ENST00000381545.3:c.796G>T	12.37:g.21028237G>T	ENSP00000370956:p.Gly266*					SLCO1B3_uc001rel.2_Nonsense_Mutation_p.G266*|SLCO1B3_uc010sil.1_Nonsense_Mutation_p.G266*|LST-3TM12_uc010sim.1_Intron|SLCO1B3_uc001reo.2_Nonsense_Mutation_p.G91*	p.G266*	NM_019844	NP_062818	Q9NPD5	SO1B3_HUMAN			8	922	+	Esophageal squamous(101;0.149)		266			Helical; Name=6; (Potential).		E7EMT8|Q5JAR4	Nonsense_Mutation	SNP	ENST00000381545.3	37	c.796G>T	CCDS8684.1	.	.	.	.	.	.	.	.	.	.	.	20.5	3.994930	0.74703	.	.	ENSG00000111700;ENSG00000111700;ENSG00000111700;ENSG00000111700;ENSG00000111700;ENSG00000257046	ENST00000540853;ENST00000261196;ENST00000381545;ENST00000553473;ENST00000544370;ENST00000540229	.	.	.	3.92	3.92	0.45320	.	0.243112	0.40818	N	0.001018	.	.	.	.	.	.	0.41211	D	0.986442	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	13.8538	0.63513	0.0:0.0:1.0:0.0	.	.	.	.	X	266;266;266;266;90;266	.	ENSP00000441269:G266X	G	+	1	0	SLCO1B3;RP11-545J16.1	20919504	1.000000	0.71417	0.367000	0.25926	0.870000	0.49936	4.488000	0.60300	2.034000	0.60081	0.461000	0.40582	GGA		0.373	SLCO1B3-001	KNOWN	upstream_ATG|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000401936.1	NM_019844		100	24	1	0	2.12867e-53	0.00361	3.4531e-53	100	24				
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	G	rs121913529		TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr12:25398284C>G	ENST00000256078.4	-	2	98	c.35G>C	c.(34-36)gGt>gCt	p.G12A	KRAS_ENST00000557334.1_Missense_Mutation_p.G12A|KRAS_ENST00000311936.3_Missense_Mutation_p.G12A|KRAS_ENST00000556131.1_Missense_Mutation_p.G12A	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	uc001rgp.1	G12D(HPAC_PANCREAS)|G12V(SW403_LARGE_INTESTINE)|G12D(HPAFII_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12V(NCIH441_LUNG)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(PK1_PANCREAS)|G12V(KP3_PANCREAS)|G12D(PANC0813_PANCREAS)|G12A(SW1116_LARGE_INTESTINE)|G12D(LS180_LARGE_INTESTINE)|G12V(NCIH727_LUNG)|G12V(PATU8988S_PANCREAS)|G12V(CAPAN2_PANCREAS)|G12D(KP4_PANCREAS)|G12D(LS513_LARGE_INTESTINE)|G12D(SNUC2A_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(COLO668_LUNG)|G12D(COLO678_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12D(PANC0203_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(SW900_LUNG)|G12V(LCLC97TM1_LUNG)|G12V(SW620_LARGE_INTESTINE)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12V(SH10TC_STOMACH)|G12V(A498_KIDNEY)|G12D(PK59_PANCREAS)|G12D(HEC1A_ENDOMETRIUM)|G12D(PANC0504_PANCREAS)|G12V(SNGM_ENDOMETRIUM)|G12A(RERFLCAD1_LUNG)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12D(ASPC1_PANCREAS)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12V(RCM1_LARGE_INTESTINE)|G12V(CORL23_LUNG)|G12D(SW1990_PANCREAS)|G12D(HEYA8_OVARY)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12V(HUPT4_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(HEC50B_ENDOMETRIUM)|G12V(YAPC_PANCREAS)|G12V(NCIH2444_LUNG)|G12V(HCC56_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12V(DANG_PANCREAS)|G12V(SHP77_LUNG)|G12D(AGS_STOMACH)|G12D(SKLU1_LUNG)|G12V(QGP1_PANCREAS)|G12D(L33_PANCREAS)|G12V(PANC0327_PANCREAS)|G12D(PANC1_PANCREAS)|G12V(RKN_OVARY)|G12V(PATU8902_PANCREAS)	119		Dom	yes		12	12p12.1	3845	Mis	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog			"""L, E, M, O"""			pancreatic|colorectal|lung|thyroid|AML|others		15813	Substitution - Missense(15812)|Deletion - Frameshift(1)	p.G12D(7175)|p.G12V(4780)|p.G12C(2482)|p.G12A(1180)|p.G12S(1119)|p.G12R(691)|p.G12?(50)|p.G12F(34)|p.G12N(6)|p.G12G(6)|p.G12L(5)|p.G12I(4)|p.G12_G13insG(4)|p.G12E(3)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12fs*3(1)	large_intestine(9453)|pancreas(3002)|lung(1512)|ovary(500)|biliary_tract(369)|endometrium(319)|haematopoietic_and_lymphoid_tissue(163)|stomach(124)|prostate(59)|thyroid(55)|small_intestine(43)|upper_aerodigestive_tract(30)|urinary_tract(30)|soft_tissue(28)|skin(27)|cervix(22)|liver(16)|breast(11)|testis(9)|oesophagus(8)|central_nervous_system(7)|peritoneum(5)|kidney(4)|eye(4)|gastrointestinal_tract_(site_indeterminate)(3)|NS(3)|thymus(3)|autonomic_ganglia(2)|salivary_gland(1)|bone(1)	large_intestine(12391)|pancreas(3285)|lung(2847)|biliary_tract(521)|ovary(443)|endometrium(339)|haematopoietic_and_lymphoid_tissue(318)|stomach(203)|thyroid(149)|prostate(85)|soft_tissue(77)|small_intestine(62)|upper_aerodigestive_tract(59)|cervix(49)|urinary_tract(48)|skin(38)|liver(31)|breast(28)|testis(17)|oesophagus(15)|central_nervous_system(9)|peritoneum(6)|salivary_gland(6)|kidney(5)|gastrointestinal_tract_(site_indeterminate)(5)|thymus(5)|eye(4)|autonomic_ganglia(2)|bone(2)|genital_tract(1)|penis(1)|adrenal_gland(1)	21052						c.(34-36)GGT>GCT		c-K-ras2 protein isoform a precursor							91.0	81.0	85.0					12																	25398284		2203	4300	6503	SO:0001583	missense	3845	Cardiofaciocutaneous_syndrome|Noonan_syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	g.chr12:25398284C>G	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"""v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog"", ""v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"""	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.35G>C	12.37:g.25398284C>G	ENSP00000256078:p.Gly12Ala	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				KRAS_uc001rgq.1_Missense_Mutation_p.G12A|KRAS_uc001rgr.2_RNA	p.G12A	NM_033360	NP_203524	P01116	RASK_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)		2	216	-	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		12		G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).	GTP.		A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	c.35G>C	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	29.3	4.996285	0.93167	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78003	-1.14;-1.14;-1.14;-1.14	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.85643	0.5744	M	0.74546	2.27	0.80722	D	1	P;P	0.52842	0.898;0.956	P;P	0.55303	0.658;0.773	D	0.87064	0.2155	10	0.87932	D	0	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	A	12	ENSP00000308495:G12A;ENSP00000452512:G12A;ENSP00000256078:G12A;ENSP00000451856:G12A	ENSP00000256078:G12A	G	-	2	0	KRAS	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT		0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	NM_033360		25	6	0	0	0	0.008361	0	25	6				
ITPR2	3709	broad.mit.edu	37	12	26868721	26868721	+	Missense_Mutation	SNP	C	C	G			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr12:26868721C>G	ENST00000381340.3	-	7	1088	c.672G>C	c.(670-672)atG>atC	p.M224I		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	224					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cellular response to cAMP (GO:0071320)|cellular response to ethanol (GO:0071361)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|regulation of insulin secretion (GO:0050796)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	cell cortex (GO:0005938)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|phosphatidylinositol binding (GO:0035091)		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)				Caffeine(DB00201)	AACTATATTTCATGAATAAAG	0.358																																							uc001rhg.2		NA																	0				kidney(6)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	14						c.(670-672)ATG>ATC		inositol 1,4,5-triphosphate receptor, type 2							103.0	100.0	101.0					12																	26868721		1864	4101	5965	SO:0001583	missense	3709				activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity	g.chr12:26868721C>G	D26350	CCDS41764.1	12p11.23	2014-07-18	2011-04-28		ENSG00000123104	ENSG00000123104		"""Ion channels / Inositol triphosphate receptors"""	6181	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 48"""	600144	"""inositol 1,4,5-triphosphate receptor, type 2"""			8081734	Standard	XM_006719064		Approved	IP3R2, CFAP48	uc001rhg.3	Q14571	OTTHUMG00000169181	ENST00000381340.3:c.672G>C	12.37:g.26868721C>G	ENSP00000370744:p.Met224Ile						p.M224I	NM_002223	NP_002214	Q14571	ITPR2_HUMAN			7	1089	-	Colorectal(261;0.0847)		224			Cytoplasmic (Potential).		O94773	Missense_Mutation	SNP	ENST00000381340.3	37	c.672G>C	CCDS41764.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.769188	0.90020	.	.	ENSG00000123104	ENST00000381340	D	0.98362	-4.89	4.57	4.57	0.56435	Inositol 1,4,5-trisphosphate/ryanodine receptor (1);	0.000000	0.85682	D	0.000000	D	0.99042	0.9672	M	0.89601	3.045	0.80722	D	1	D	0.67145	0.996	D	0.83275	0.996	D	0.99521	1.0958	10	0.29301	T	0.29	.	17.9143	0.88944	0.0:1.0:0.0:0.0	.	224	Q14571	ITPR2_HUMAN	I	224	ENSP00000370744:M224I	ENSP00000370744:M224I	M	-	3	0	ITPR2	26759988	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.514000	0.81750	2.526000	0.85167	0.655000	0.94253	ATG		0.358	ITPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402732.1	NM_002223		5	114	0	0	0	0.000602	0	5	114				
PDZRN4	29951	broad.mit.edu	37	12	41966616	41966616	+	Missense_Mutation	SNP	G	G	C			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr12:41966616G>C	ENST00000402685.2	+	10	2043	c.2035G>C	c.(2035-2037)Gag>Cag	p.E679Q	PDZRN4_ENST00000298919.7_Missense_Mutation_p.E419Q|PDZRN4_ENST00000539469.2_Missense_Mutation_p.E421Q	NM_001164595.1	NP_001158067.1	Q6ZMN7	PZRN4_HUMAN	PDZ domain containing ring finger 4	679							ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				CATTGAGCTTGAGTGTCAGAA	0.448																																							uc010skn.1		NA																	0				lung(3)|skin(3)|ovary(2)|large_intestine(1)|kidney(1)|pancreas(1)	11						c.(1438-1440)GAG>CAG		PDZ domain containing RING finger 4 isoform 2							104.0	94.0	98.0					12																	41966616		2203	4300	6503	SO:0001583	missense	29951						ubiquitin-protein ligase activity|zinc ion binding	g.chr12:41966616G>C	AK094690	CCDS8739.1, CCDS53777.1	12q12	2008-08-14	2008-08-14			ENSG00000165966		"""RING-type (C3HC4) zinc fingers"""	30552	protein-coding gene	gene with protein product	"""similar to semaF cytoplasmic domain associated protein 3"""	609730				11230166, 15010864	Standard	NM_013377		Approved	DKFZp434B0417, LNX4, FLJ33777, IMAGE5767589	uc010skn.2	Q6ZMN7		ENST00000402685.2:c.2035G>C	12.37:g.41966616G>C	ENSP00000384197:p.Glu679Gln					PDZRN4_uc001rmq.3_Missense_Mutation_p.E421Q|PDZRN4_uc009zjz.2_Missense_Mutation_p.E419Q|PDZRN4_uc001rmr.2_Missense_Mutation_p.E306Q	p.E480Q	NM_013377	NP_037509	Q6ZMN7	PZRN4_HUMAN			10	1506	+	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)	679			Potential.		Q52LY3|Q52LY4|Q6N052|Q8IUU1|Q9NTP7	Missense_Mutation	SNP	ENST00000402685.2	37	c.1438G>C	CCDS53777.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.105964	0.77096	.	.	ENSG00000165966	ENST00000402685;ENST00000539469;ENST00000298919	T;T;T	0.74315	-0.83;3.66;3.66	4.49	4.49	0.54785	.	0.073229	0.56097	D	0.000036	T	0.81814	0.4902	L	0.59436	1.845	0.80722	D	1	D;P;P	0.53885	0.963;0.918;0.863	P;P;P	0.58210	0.684;0.835;0.771	T	0.83334	-0.0011	10	0.54805	T	0.06	-34.0047	18.0664	0.89392	0.0:0.0:1.0:0.0	.	679;419;421	Q6ZMN7;Q6ZMN7-4;Q6ZMN7-2	PZRN4_HUMAN;.;.	Q	679;421;419	ENSP00000384197:E679Q;ENSP00000439990:E421Q;ENSP00000298919:E419Q	ENSP00000298919:E419Q	E	+	1	0	PDZRN4	40252883	1.000000	0.71417	0.933000	0.37362	0.962000	0.63368	9.813000	0.99286	2.455000	0.83008	0.650000	0.86243	GAG		0.448	PDZRN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403701.1	NM_013377		16	82	0	0	0	0.00499	0	16	82				
PDZRN4	29951	broad.mit.edu	37	12	41967171	41967171	+	Missense_Mutation	SNP	G	G	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr12:41967171G>A	ENST00000402685.2	+	10	2598	c.2590G>A	c.(2590-2592)Gag>Aag	p.E864K	PDZRN4_ENST00000298919.7_Missense_Mutation_p.E604K|PDZRN4_ENST00000539469.2_Missense_Mutation_p.E606K	NM_001164595.1	NP_001158067.1	Q6ZMN7	PZRN4_HUMAN	PDZ domain containing ring finger 4	864							ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				ATCTGCAGTCGAGTATGCTCA	0.478																																							uc010skn.1		NA																	0				lung(3)|skin(3)|ovary(2)|large_intestine(1)|kidney(1)|pancreas(1)	11						c.(1993-1995)GAG>AAG		PDZ domain containing RING finger 4 isoform 2							116.0	114.0	115.0					12																	41967171		2203	4300	6503	SO:0001583	missense	29951						ubiquitin-protein ligase activity|zinc ion binding	g.chr12:41967171G>A	AK094690	CCDS8739.1, CCDS53777.1	12q12	2008-08-14	2008-08-14			ENSG00000165966		"""RING-type (C3HC4) zinc fingers"""	30552	protein-coding gene	gene with protein product	"""similar to semaF cytoplasmic domain associated protein 3"""	609730				11230166, 15010864	Standard	NM_013377		Approved	DKFZp434B0417, LNX4, FLJ33777, IMAGE5767589	uc010skn.2	Q6ZMN7		ENST00000402685.2:c.2590G>A	12.37:g.41967171G>A	ENSP00000384197:p.Glu864Lys					PDZRN4_uc001rmq.3_Missense_Mutation_p.E606K|PDZRN4_uc009zjz.2_Missense_Mutation_p.E604K|PDZRN4_uc001rmr.2_Missense_Mutation_p.E491K	p.E665K	NM_013377	NP_037509	Q6ZMN7	PZRN4_HUMAN			10	2061	+	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)	864					Q52LY3|Q52LY4|Q6N052|Q8IUU1|Q9NTP7	Missense_Mutation	SNP	ENST00000402685.2	37	c.1993G>A	CCDS53777.1	.	.	.	.	.	.	.	.	.	.	G	19.44	3.828667	0.71258	.	.	ENSG00000165966	ENST00000402685;ENST00000539469;ENST00000298919	T;T;T	0.40756	1.02;1.02;1.02	4.96	4.96	0.65561	.	0.000000	0.64402	D	0.000002	T	0.69142	0.3078	M	0.85859	2.78	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.72338	0.924;0.968;0.977	T	0.72868	-0.4162	10	0.52906	T	0.07	-30.5873	19.1069	0.93300	0.0:0.0:1.0:0.0	.	864;604;606	Q6ZMN7;Q6ZMN7-4;Q6ZMN7-2	PZRN4_HUMAN;.;.	K	864;606;604	ENSP00000384197:E864K;ENSP00000439990:E606K;ENSP00000298919:E604K	ENSP00000298919:E604K	E	+	1	0	PDZRN4	40253438	1.000000	0.71417	0.968000	0.41197	0.569000	0.35902	7.823000	0.86660	2.670000	0.90874	0.650000	0.86243	GAG		0.478	PDZRN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403701.1	NM_013377		5	132	0	0	0	0.001168	0	5	132				
ANO6	196527	broad.mit.edu	37	12	45803234	45803234	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr12:45803234G>T	ENST00000320560.8	+	16	2177	c.1975G>T	c.(1975-1977)Ggc>Tgc	p.G659C	ANO6_ENST00000423947.3_Missense_Mutation_p.G680C|ANO6_ENST00000425752.2_Missense_Mutation_p.G659C|ANO6_ENST00000426898.2_3'UTR|ANO6_ENST00000441606.2_Missense_Mutation_p.G641C|ANO6_ENST00000435642.1_Missense_Mutation_p.G659C	NM_001025356.2	NP_001020527.2	Q4KMQ2	ANO6_HUMAN	anoctamin 6	659					activation of blood coagulation via clotting cascade (GO:0002543)|blood coagulation (GO:0007596)|bone mineralization involved in bone maturation (GO:0035630)|calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|calcium activated phosphatidylserine scrambling (GO:0061589)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|dendritic cell chemotaxis (GO:0002407)|ion transmembrane transport (GO:0034220)|phosphatidylserine exposure on blood platelet (GO:0097045)|phospholipid scrambling (GO:0017121)|positive regulation of endothelial cell apoptotic process (GO:2000353)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)	cell surface (GO:0009986)|chloride channel complex (GO:0034707)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|intracellular calcium activated chloride channel activity (GO:0005229)|phospholipid scramblase activity (GO:0017128)|voltage-gated chloride channel activity (GO:0005247)|voltage-gated ion channel activity (GO:0005244)			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						GCAGCCTATGGGCAAACTGGG	0.383																																							uc001roo.2		NA																	0				ovary(1)|kidney(1)	2						c.(1975-1977)GGC>TGC		anoctamin 6 isoform a							121.0	121.0	121.0					12																	45803234		2203	4300	6503	SO:0001583	missense	196527				activation of blood coagulation via clotting cascade|phosphatidylserine exposure on blood platelet	chloride channel complex|plasma membrane	chloride channel activity	g.chr12:45803234G>T	AL832340	CCDS31782.1, CCDS44865.1, CCDS44866.1, CCDS55819.1	12q12-q13.11	2014-09-17	2008-08-28	2008-08-28				"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	25240	protein-coding gene	gene with protein product		608663	"""transmembrane protein 16F"""	TMEM16F		15067359, 24692353	Standard	NM_001025356		Approved	DKFZp313M0720	uc010slf.2	Q4KMQ2	OTTHUMG00000169564	ENST00000320560.8:c.1975G>T	12.37:g.45803234G>T	ENSP00000320087:p.Gly659Cys					ANO6_uc010sld.1_Missense_Mutation_p.G659C|ANO6_uc010sle.1_Missense_Mutation_p.G659C|ANO6_uc010slf.1_Missense_Mutation_p.G680C|ANO6_uc010slg.1_Missense_Mutation_p.G641C	p.G659C	NM_001025356	NP_001020527	Q4KMQ2	ANO6_HUMAN			16	2310	+			659			Extracellular (Potential).		A6NNM6|B9EGG0|E7ENK4|E9PB30|E9PCT2|Q8N3Q2	Missense_Mutation	SNP	ENST00000320560.8	37	c.1975G>T	CCDS31782.1	.	.	.	.	.	.	.	.	.	.	G	16.99	3.274852	0.59649	.	.	ENSG00000177119	ENST00000425752;ENST00000423947;ENST00000435642;ENST00000320560;ENST00000441606	T;T;T;T;T	0.63744	-0.06;-0.06;-0.06;-0.06;-0.06	5.23	3.33	0.38152	.	0.309410	0.34002	N	0.004349	T	0.80808	0.4694	M	0.90870	3.155	0.54753	D	0.999988	D;D;D;D	0.76494	0.995;0.987;0.999;0.984	D;P;D;D	0.70935	0.971;0.897;0.965;0.913	T	0.83107	-0.0125	10	0.72032	D	0.01	.	10.9743	0.47456	0.1601:0.0:0.8399:0.0	.	641;680;659;659	E9PB30;B9EGG0;E9PCT2;Q4KMQ2	.;.;.;ANO6_HUMAN	C	659;680;659;659;641	ENSP00000391417:G659C;ENSP00000409126:G680C;ENSP00000413840:G659C;ENSP00000320087:G659C;ENSP00000413137:G641C	ENSP00000320087:G659C	G	+	1	0	ANO6	44089501	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	2.030000	0.41108	0.797000	0.33971	0.655000	0.94253	GGC		0.383	ANO6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000404822.1	XM_113743		101	36	1	0	2.42198e-52	0.00361	3.9226e-52	101	36				
RAPGEF3	10411	broad.mit.edu	37	12	48141561	48141561	+	Silent	SNP	G	G	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr12:48141561G>A	ENST00000449771.2	-	14	1495	c.1407C>T	c.(1405-1407)gtC>gtT	p.V469V	RAPGEF3_ENST00000171000.4_Silent_p.V427V|RAPGEF3_ENST00000405493.2_Silent_p.V427V|RAPGEF3_ENST00000389212.3_Silent_p.V469V|RAPGEF3_ENST00000548919.1_Silent_p.V427V|RAPGEF3_ENST00000549151.1_Silent_p.V427V|RAPGEF3_ENST00000395358.3_Silent_p.V469V			O95398	RPGF3_HUMAN	Rap guanine nucleotide exchange factor (GEF) 3	469	N-terminal Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00135}.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cAMP-mediated signaling (GO:0019933)|cell proliferation (GO:0008283)|cellular response to cAMP (GO:0071320)|energy reserve metabolic process (GO:0006112)|establishment of endothelial barrier (GO:0061028)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cAMP catabolic process (GO:0030822)|positive regulation of Rap GTPase activity (GO:0032854)|positive regulation of stress fiber assembly (GO:0051496)|Rap protein signal transduction (GO:0032486)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cAMP-dependent protein kinase complex (GO:0005952)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|cAMP-dependent protein kinase regulator activity (GO:0008603)|guanyl-nucleotide exchange factor activity (GO:0005085)|Rap guanyl-nucleotide exchange factor activity (GO:0017034)			endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(7)	25	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.0375)		CCCACTGGCTGACCAGCCGCA	0.647																																							uc009zkp.2		NA																	0				lung(2)|skin(1)|pancreas(1)	4						c.(1279-1281)GTC>GTT		Rap guanine nucleotide exchange factor 3 isoform							34.0	36.0	35.0					12																	48141561		2203	4300	6503	SO:0001819	synonymous_variant	10411				regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex	cAMP-dependent protein kinase regulator activity|guanyl-nucleotide exchange factor activity	g.chr12:48141561G>A	AK092448	CCDS31784.1, CCDS41775.1	12q13.1	2006-04-12	2004-03-26		ENSG00000079337	ENSG00000079337			16629	protein-coding gene	gene with protein product	"""exchange protein directly activated by cAMP 1"""	606057	"""RAP guanine-nucleotide-exchange factor (GEF) 3"""			10777494, 9856955	Standard	NM_001098531		Approved	cAMP-GEFI, EPAC, bcm910	uc001rpz.4	O95398	OTTHUMG00000133667	ENST00000449771.2:c.1407C>T	12.37:g.48141561G>A						RAPGEF3_uc001rpx.2_5'Flank|RAPGEF3_uc010sln.1_5'UTR|RAPGEF3_uc001rpy.2_RNA|RAPGEF3_uc009zkq.2_Silent_p.V427V|RAPGEF3_uc001rpz.3_Silent_p.V469V|RAPGEF3_uc001rqa.2_5'UTR	p.V427V	NM_001098532	NP_001092002	A8K2G5	A8K2G5_HUMAN		GBM - Glioblastoma multiforme(48;0.0375)	13	1721	-	Lung SC(27;0.192)		427					A8K2G5|E7EQC8|O95634|Q8WVN0	Silent	SNP	ENST00000449771.2	37	c.1281C>T	CCDS41775.1																																																																																				0.647	RAPGEF3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257848.1	NM_006105		6	34	0	0	0	0.001984	0	6	34				
KMT2D	8085	broad.mit.edu	37	12	49439942	49439942	+	Silent	SNP	G	G	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr12:49439942G>T	ENST00000301067.7	-	17	4598	c.4599C>A	c.(4597-4599)ggC>ggA	p.G1533G		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	1533					chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										GGCTCTCACAGCCTGCATGCA	0.557																																							uc001rta.3		NA								N|F|Mis							medulloblastoma|renal		0				kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						c.(4597-4599)GGC>GGA		myeloid/lymphoid or mixed-lineage leukemia 2							43.0	49.0	47.0					12																	49439942		2118	4236	6354	SO:0001819	synonymous_variant	8085				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding	g.chr12:49439942G>T	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.4599C>A	12.37:g.49439942G>T		HNSCC(34;0.089)					p.G1533G	NM_003482	NP_003473	O14686	MLL2_HUMAN			17	4599	-			1533			RING-type 3; atypical.|PHD-type 5.		O14687	Silent	SNP	ENST00000301067.7	37	c.4599C>A	CCDS44873.1																																																																																				0.557	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			4	13	1	0	0.00909568	0.009096	0.00941286	4	13				
LIMA1	51474	broad.mit.edu	37	12	50586328	50586328	+	Missense_Mutation	SNP	C	C	G			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr12:50586328C>G	ENST00000341247.4	-	9	1196	c.1047G>C	c.(1045-1047)aaG>aaC	p.K349N	LIMA1_ENST00000552491.1_Missense_Mutation_p.K47N|RP3-405J10.3_ENST00000552061.1_RNA|LIMA1_ENST00000552823.1_Missense_Mutation_p.K189N|LIMA1_ENST00000552008.1_5'UTR|LIMA1_ENST00000547825.1_Missense_Mutation_p.K47N|LIMA1_ENST00000552783.1_Missense_Mutation_p.K190N|LIMA1_ENST00000394943.3_Missense_Mutation_p.K350N|LIMA1_ENST00000552909.1_Missense_Mutation_p.K189N	NM_001113546.1|NM_016357.4	NP_001107018.1|NP_057441.1	Q9UHB6	LIMA1_HUMAN	LIM domain and actin binding 1	349					actin filament bundle assembly (GO:0051017)|negative regulation of actin filament depolymerization (GO:0030835)|ruffle organization (GO:0031529)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	actin filament binding (GO:0051015)|actin monomer binding (GO:0003785)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(2)	44						GAACCTCACTCTTAACCTGGG	0.448																																							uc001rwj.3		NA																	0				ovary(1)	1						c.(1045-1047)AAG>AAC		LIM domain and actin binding 1 isoform b							130.0	114.0	119.0					12																	50586328		2203	4300	6503	SO:0001583	missense	51474				actin filament bundle assembly|negative regulation of actin filament depolymerization|ruffle organization	cytoplasm|focal adhesion|stress fiber	actin filament binding|actin monomer binding|zinc ion binding	g.chr12:50586328C>G	AF198454	CCDS8802.1, CCDS44877.1, CCDS55826.1, CCDS58230.1	12q13.12	2006-04-12				ENSG00000050405			24636	protein-coding gene	gene with protein product	"""epithelial protein lost in neoplasm beta"""	608364				10806352, 10618726, 12566430	Standard	NM_016357		Approved	EPLIN	uc001rwk.4	Q9UHB6		ENST00000341247.4:c.1047G>C	12.37:g.50586328C>G	ENSP00000340184:p.Lys349Asn					LIMA1_uc001rwg.3_Missense_Mutation_p.K47N|LIMA1_uc001rwh.3_Missense_Mutation_p.K189N|LIMA1_uc001rwi.3_Missense_Mutation_p.K190N|LIMA1_uc001rwk.3_Missense_Mutation_p.K350N|LIMA1_uc010smr.1_RNA|LIMA1_uc010sms.1_RNA	p.K349N	NM_016357	NP_057441	Q9UHB6	LIMA1_HUMAN			9	1221	-			349					B2RB09|Q2TAN7|Q59FE8|Q9BVF2|Q9H8J1|Q9HBN5|Q9NX96|Q9NXC3|Q9NXU6|Q9P0H8|Q9UHB5	Missense_Mutation	SNP	ENST00000341247.4	37	c.1047G>C	CCDS8802.1	.	.	.	.	.	.	.	.	.	.	C	14.47	2.545492	0.45280	.	.	ENSG00000050405	ENST00000552491;ENST00000547825;ENST00000552823;ENST00000394943;ENST00000341247;ENST00000552783;ENST00000552909;ENST00000420992	T;T;T;D;T;T;T	0.84298	-1.13;-1.13;-1.45;-1.83;-1.13;-1.42;-1.45	5.22	4.33	0.51752	.	0.384277	0.23424	N	0.048338	T	0.78496	0.4292	M	0.65975	2.015	0.34389	D	0.693953	B;P;B	0.35656	0.076;0.514;0.021	B;B;B	0.21151	0.019;0.033;0.029	T	0.81420	-0.0941	10	0.36615	T	0.2	.	8.1534	0.31154	0.1556:0.7653:0.0:0.0791	.	359;349;189	Q59FE8;Q9UHB6;F8VQE1	.;LIMA1_HUMAN;.	N	47;47;189;350;349;190;189;268	ENSP00000448463:K47N;ENSP00000448706:K47N;ENSP00000450266:K189N;ENSP00000378400:K350N;ENSP00000340184:K349N;ENSP00000448779:K190N;ENSP00000450087:K189N	ENSP00000340184:K349N	K	-	3	2	LIMA1	48872595	0.962000	0.33011	1.000000	0.80357	0.794000	0.44872	1.245000	0.32790	1.438000	0.47492	0.655000	0.94253	AAG		0.448	LIMA1-003	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000406235.2	NM_016357		3	66	0	0	0	0.000602	0	3	66				
PCBP2	5094	broad.mit.edu	37	12	53849708	53849708	+	Missense_Mutation	SNP	G	G	C			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr12:53849708G>C	ENST00000439930.3	+	4	188	c.166G>C	c.(166-168)Gag>Cag	p.E56Q	PCBP2_ENST00000546463.1_Missense_Mutation_p.E56Q|PCBP2_ENST00000359282.5_Missense_Mutation_p.E56Q|PCBP2_ENST00000548933.1_Missense_Mutation_p.E56Q|RP11-793H13.8_ENST00000547717.1_RNA|PCBP2_ENST00000447282.1_Missense_Mutation_p.E56Q|PCBP2_ENST00000552296.2_Missense_Mutation_p.E56Q|PCBP2_ENST00000455667.3_Missense_Mutation_p.E56Q|PCBP2_ENST00000549863.1_Missense_Mutation_p.E56Q|PCBP2_ENST00000359462.5_Missense_Mutation_p.E56Q|PCBP2_ENST00000541275.1_Missense_Mutation_p.E56Q|PCBP2_ENST00000603815.1_Missense_Mutation_p.E56Q|PCBP2_ENST00000437231.1_Missense_Mutation_p.E56Q|PCBP2_ENST00000552819.1_Missense_Mutation_p.E56Q			Q15366	PCBP2_HUMAN	poly(rC) binding protein 2	56	KH 1. {ECO:0000255|PROSITE- ProRule:PRU00117}.				defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA metabolic process (GO:0016071)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of defense response to virus (GO:0050687)|negative regulation of type I interferon production (GO:0032480)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(4)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	15						GAATTGTCCTGAGAGAATTAT	0.413																																							uc001sdl.3		NA																	0					0						c.(166-168)GAG>CAG		poly(rC) binding protein 2 isoform d							205.0	192.0	197.0					12																	53849708		2203	4300	6503	SO:0001583	missense	5094				innate immune response|negative regulation of defense response to virus|negative regulation of type I interferon production|nuclear mRNA splicing, via spliceosome|proteasomal ubiquitin-dependent protein catabolic process|response to virus	cytosol|nucleoplasm|ribonucleoprotein complex	DNA binding|RNA binding|ubiquitin protein ligase binding	g.chr12:53849708G>C	BC035420	CCDS8859.1, CCDS44900.1, CCDS44901.1, CCDS44902.1, CCDS44903.1, CCDS44904.1, CCDS55830.1	12q13.13	2013-10-30	2001-11-28		ENSG00000197111	ENSG00000197111			8648	protein-coding gene	gene with protein product	"""heterogenous nuclear ribonucleoprotein E2"""	601210	"""poly(rC)-binding protein 2"""			8833161	Standard	NM_001098620		Approved	HNRPE2, hnRNP-E2, HNRNPE2	uc001sdc.4	Q15366	OTTHUMG00000169439	ENST00000439930.3:c.166G>C	12.37:g.53849708G>C	ENSP00000408949:p.Glu56Gln					PCBP2_uc001sdc.3_Missense_Mutation_p.E56Q|PCBP2_uc001sdb.3_Missense_Mutation_p.E56Q|PCBP2_uc001sde.3_Missense_Mutation_p.E56Q|PCBP2_uc001sdi.3_Missense_Mutation_p.E56Q|PCBP2_uc001sdd.3_Missense_Mutation_p.E56Q|PCBP2_uc001sdf.3_Missense_Mutation_p.E56Q|PCBP2_uc009zna.2_Intron|PCBP2_uc010soh.1_Missense_Mutation_p.E56Q|PCBP2_uc009zmz.1_Intron	p.E56Q	NM_001128911	NP_001122383	Q15366	PCBP2_HUMAN			5	516	+			56			KH 1.		A8K7X6|F8VYL7|G3V0E8|I6L8F9|Q32Q82|Q59HD4|Q68Y55|Q6IPF4|Q6PKG5	Missense_Mutation	SNP	ENST00000439930.3	37	c.166G>C	CCDS44901.1	.	.	.	.	.	.	.	.	.	.	G	32	5.168943	0.94768	.	.	ENSG00000197111	ENST00000541275;ENST00000359282;ENST00000447282;ENST00000437231;ENST00000439930;ENST00000549863;ENST00000359462;ENST00000546463;ENST00000550192;ENST00000551104;ENST00000550520;ENST00000552296;ENST00000552819;ENST00000455667;ENST00000548933;ENST00000546652;ENST00000379777	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.49432	0.78;0.78;0.78;0.78;0.78;0.78;0.78;0.78;0.78;0.78;0.78;0.78;0.78;0.78;0.78	5.45	5.45	0.79879	K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);	0.000000	0.85682	D	0.000000	T	0.77691	0.4168	M	0.93283	3.4	0.80722	D	1	D;D;D;D;D;D;D;D	0.71674	0.998;0.998;0.996;0.987;0.997;0.98;0.998;0.965	D;D;D;D;D;D;D;D	0.87578	0.987;0.998;0.99;0.959;0.996;0.967;0.994;0.977	T	0.83109	-0.0124	10	0.87932	D	0	.	18.2185	0.89894	0.0:0.0:1.0:0.0	.	56;56;56;56;56;56;56;56	B4DLC0;Q15366;Q32Q82;G3V0E8;F8VYL7;Q68Y55;Q6IPF4;A8K7X6	.;PCBP2_HUMAN;.;.;.;.;.;.	Q	56;56;56;56;56;56;56;56;56;56;48;56;56;56;56;37;18	ENSP00000446130:E56Q;ENSP00000352228:E56Q;ENSP00000394116:E56Q;ENSP00000390304:E56Q;ENSP00000408949:E56Q;ENSP00000447670:E56Q;ENSP00000352438:E56Q;ENSP00000448762:E56Q;ENSP00000448079:E56Q;ENSP00000446601:E56Q;ENSP00000448847:E48Q;ENSP00000448927:E56Q;ENSP00000449070:E56Q;ENSP00000388008:E56Q;ENSP00000449062:E56Q	ENSP00000352228:E56Q	E	+	1	0	PCBP2	52135975	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.483000	0.97937	2.838000	0.97847	0.655000	0.94253	GAG		0.413	PCBP2-027	NOVEL	NAGNAG_splice_site|non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000407545.2	NM_005016		19	249	0	0	0	0.001882	0	19	249				
OR6C2	341416	broad.mit.edu	37	12	55846495	55846495	+	Missense_Mutation	SNP	C	C	G			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr12:55846495C>G	ENST00000322678.1	+	1	498	c.498C>G	c.(496-498)ttC>ttG	p.F166L	RP11-110A12.2_ENST00000556750.1_RNA|RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000554049.1_RNA|RP11-110A12.2_ENST00000555146.1_RNA	NM_054105.1	NP_473446.1	Q9NZP2	OR6C2_HUMAN	olfactory receptor, family 6, subfamily C, member 2	166					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(2)|large_intestine(5)|lung(8)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	23						AGCTCGAATTCTGTGACTCCA	0.438																																							uc001sgz.1		NA																	0				skin(2)	2						c.(496-498)TTC>TTG		olfactory receptor, family 6, subfamily C,							174.0	153.0	160.0					12																	55846495		2203	4300	6503	SO:0001583	missense	341416				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:55846495C>G	AF179766	CCDS31824.1	12q13.2	2012-08-09				ENSG00000179695		"""GPCR / Class A : Olfactory receptors"""	15436	protein-coding gene	gene with protein product							Standard	NM_054105		Approved	OR6C67	uc001sgz.1	Q9NZP2	OTTHUMG00000169957	ENST00000322678.1:c.498C>G	12.37:g.55846495C>G	ENSP00000323606:p.Phe166Leu						p.F166L	NM_054105	NP_473446	Q9NZP2	OR6C2_HUMAN			1	498	+			166			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000322678.1	37	c.498C>G	CCDS31824.1	.	.	.	.	.	.	.	.	.	.	C	15.09	2.729506	0.48833	.	.	ENSG00000179695	ENST00000322678	T	0.00039	8.85	5.42	3.57	0.40892	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000006	T	0.00356	0.0011	M	0.84326	2.69	0.27706	N	0.945629	D	0.56035	0.974	P	0.55965	0.788	T	0.23368	-1.0190	10	0.72032	D	0.01	.	8.8447	0.35164	0.0:0.7648:0.0:0.2352	.	166	Q9NZP2	OR6C2_HUMAN	L	166	ENSP00000323606:F166L	ENSP00000323606:F166L	F	+	3	2	OR6C2	54132762	0.175000	0.23083	0.998000	0.56505	0.138000	0.21146	-0.570000	0.05895	1.525000	0.49052	0.609000	0.83330	TTC		0.438	OR6C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406676.1	NM_054105		21	234	0	0	0	0.00333	0	21	234				
DNAJC14	85406	broad.mit.edu	37	12	56222305	56222305	+	Silent	SNP	A	A	C			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr12:56222305A>C	ENST00000357606.3	-	3	427	c.138T>G	c.(136-138)gcT>gcG	p.A46A	DNAJC14_ENST00000317287.5_Silent_p.A46A|RP11-762I7.5_ENST00000546837.1_5'Flank|DNAJC14_ENST00000317269.3_Silent_p.A46A|TMEM198B_ENST00000478241.1_RNA			Q6Y2X3	DJC14_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 14	46					protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(2)|kidney(1)|large_intestine(8)|lung(7)|ovary(3)|prostate(1)|skin(1)	23						TACCATTAGGAGCAGTCCCTG	0.602																																							uc001shx.1		NA																	0				ovary(3)|large_intestine(1)	4						c.(136-138)GCT>GCG		dopamine receptor interacting protein							149.0	131.0	137.0					12																	56222305		2203	4300	6503	SO:0001819	synonymous_variant	85406				protein folding|protein transport	endoplasmic reticulum membrane|integral to membrane	heat shock protein binding|unfolded protein binding	g.chr12:56222305A>C	AF141342	CCDS8894.1	12q12	2011-09-02				ENSG00000135392		"""Heat shock proteins / DNAJ (HSP40)"""	24581	protein-coding gene	gene with protein product		606092				11331877, 11984006	Standard	NM_032364		Approved	DNAJ, DRIP78, HDJ3, LIP6, FLJ32792	uc001shu.2	Q6Y2X3		ENST00000357606.3:c.138T>G	12.37:g.56222305A>C						DNAJC14_uc001shu.1_Silent_p.A46A|DNAJC14_uc009zob.1_Silent_p.A46A|DNAJC14_uc001shy.1_Silent_p.A46A	p.A46A	NM_032364	NP_115740	Q6Y2X3	DJC14_HUMAN			2	342	-			46					A5YM67|Q17RY2|Q66K17|Q96N59|Q96T63	Silent	SNP	ENST00000357606.3	37	c.138T>G	CCDS8894.1																																																																																				0.602	DNAJC14-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409095.1	NM_032364		85	98	0	0	0	0.00361	0	85	98				
CNPY2	10330	broad.mit.edu	37	12	56712162	56712162	+	5'Flank	SNP	G	G	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr12:56712162G>A	ENST00000273308.4	-	0	0				PAN2_ENST00000257931.5_Nonsense_Mutation_p.Q1144*|CNPY2_ENST00000551720.1_5'Flank|PAN2_ENST00000548043.1_Nonsense_Mutation_p.Q1145*|RP11-977G19.10_ENST00000549318.1_5'Flank|PAN2_ENST00000440411.3_Nonsense_Mutation_p.Q1141*|PAN2_ENST00000549090.1_5'UTR|PAN2_ENST00000425394.2_Nonsense_Mutation_p.Q1145*	NM_014255.5	NP_055070.1	Q9Y2B0	CNPY2_HUMAN	canopy FGF signaling regulator 2						negative regulation of gene expression (GO:0010629)|positive regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045716)|regulation of low-density lipoprotein particle clearance (GO:0010988)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)				large_intestine(2)|lung(2)	4						CGGTACAGCTGAAGGGCTGTG	0.493																																							uc001skx.2		NA																	0				ovary(2)|skin(2)|large_intestine(1)|breast(1)	6						c.(3433-3435)CAG>TAG		PAN2 polyA specific ribonuclease subunit homolog							125.0	116.0	119.0					12																	56712162		2203	4300	6503	SO:0001631	upstream_gene_variant	9924				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|ubiquitin-dependent protein catabolic process	cytosol|nucleus	nucleic acid binding|poly(A)-specific ribonuclease activity|ubiquitin thiolesterase activity	g.chr12:56712162G>A	AB015631	CCDS8914.1	12q15	2013-07-23	2013-07-23	2007-10-22		ENSG00000257727			13529	protein-coding gene	gene with protein product		605861	"""transmembrane protein 4"", ""canopy 2 homolog (zebrafish)"""	TMEM4		10072769, 15905959	Standard	NM_001190991		Approved	HP10390, ZSIG9, Cnpy2	uc001sku.2	Q9Y2B0	OTTHUMG00000170330		12.37:g.56712162G>A	Exception_encountered					CNPY2_uc001sku.1_5'Flank|CNPY2_uc001skv.2_5'Flank|PAN2_uc001skw.2_Nonsense_Mutation_p.Q293*|PAN2_uc001skz.2_Nonsense_Mutation_p.Q1144*|PAN2_uc001sky.2_Nonsense_Mutation_p.Q1141*	p.Q1145*	NM_001127460	NP_001120932	Q504Q3	PAN2_HUMAN			25	3806	-			1145			Exonuclease.		B2R7B9|Q9UHE9	Nonsense_Mutation	SNP	ENST00000273308.4	37	c.3433C>T	CCDS8914.1	.	.	.	.	.	.	.	.	.	.	G	45	11.746490	0.99598	.	.	ENSG00000135473	ENST00000425394;ENST00000440411;ENST00000257931;ENST00000548043	.	.	.	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10111	T	0.7	-14.466	18.4112	0.90552	0.0:0.0:1.0:0.0	.	.	.	.	X	1145;1141;1144;1145	.	ENSP00000257931:Q1144X	Q	-	1	0	PAN2	54998429	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.618000	0.98365	2.715000	0.92844	0.563000	0.77884	CAG		0.493	CNPY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408546.1	NM_014255		20	152	0	0	0	0.003954	0	20	152				
LRP1	4035	broad.mit.edu	37	12	57605102	57605102	+	Missense_Mutation	SNP	G	G	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr12:57605102G>A	ENST00000243077.3	+	84	13526	c.13060G>A	c.(13060-13062)Gtc>Atc	p.V4354I		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	4354	EGF-like 21. {ECO:0000255|PROSITE- ProRule:PRU00076}.				aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	GGCCTGTGTGGTCAACAAGCA	0.637																																							uc001snd.2		NA																	0				ovary(8)|lung(3)|breast(3)|large_intestine(2)|central_nervous_system(2)|skin(2)|pancreas(2)	22						c.(13060-13062)GTC>ATC		low density lipoprotein-related protein 1	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)						77.0	75.0	76.0					12																	57605102		2203	4300	6503	SO:0001583	missense	4035				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity	g.chr12:57605102G>A	X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"""CD molecules"", ""Low density lipoprotein receptors"""	6692	protein-coding gene	gene with protein product		107770	"""alpha-2-macroglobulin receptor"""	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.13060G>A	12.37:g.57605102G>A	ENSP00000243077:p.Val4354Ile						p.V4354I	NM_002332	NP_002323	Q07954	LRP1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0103)	84	13526	+			4354			EGF-like 21.|Extracellular (Potential).		Q2PP12|Q86SW0|Q8IVG8	Missense_Mutation	SNP	ENST00000243077.3	37	c.13060G>A	CCDS8932.1	.	.	.	.	.	.	.	.	.	.	G	1.947	-0.442232	0.04604	.	.	ENSG00000123384	ENST00000243077	T	0.10192	2.9	4.3	1.1	0.20463	.	0.400023	0.20399	N	0.093083	T	0.03564	0.0102	N	0.04043	-0.29	0.21762	N	0.999553	B	0.02656	0.0	B	0.01281	0.0	T	0.43925	-0.9361	10	0.14656	T	0.56	.	4.4928	0.11822	0.2222:0.0:0.5965:0.1814	.	4354	Q07954	LRP1_HUMAN	I	4354	ENSP00000243077:V4354I	ENSP00000243077:V4354I	V	+	1	0	LRP1	55891369	0.960000	0.32886	0.834000	0.33040	0.653000	0.38743	0.658000	0.24979	0.427000	0.26145	0.462000	0.41574	GTC		0.637	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332		45	91	0	0	0	0.00361	0	45	91				
SRGAP1	57522	broad.mit.edu	37	12	64437254	64437254	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr12:64437254C>A	ENST00000355086.3	+	6	1224	c.700C>A	c.(700-702)Cta>Ata	p.L234I	RP11-196H14.2_ENST00000535594.1_RNA|SRGAP1_ENST00000357825.3_Missense_Mutation_p.L234I|SRGAP1_ENST00000543397.1_Missense_Mutation_p.L194I	NM_020762.2	NP_065813.1	Q7Z6B7	SRGP1_HUMAN	SLIT-ROBO Rho GTPase activating protein 1	234	F-BAR domain.				axon guidance (GO:0007411)|cell migration (GO:0016477)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho GTPase activator activity (GO:0005100)			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)		AGAAAATAAGCTAAAATCAAT	0.343																																							uc010ssp.1		NA																	0				ovary(2)|central_nervous_system(2)	4						c.(700-702)CTA>ATA		SLIT-ROBO Rho GTPase activating protein 1							90.0	81.0	84.0					12																	64437254		2203	4299	6502	SO:0001583	missense	57522				axon guidance	cytosol		g.chr12:64437254C>A	AB037725	CCDS8967.1	12q13.13	2011-07-04			ENSG00000196935	ENSG00000196935		"""Rho GTPase activating proteins"""	17382	protein-coding gene	gene with protein product		606523				11672528	Standard	NM_020762		Approved	KIAA1304, ARHGAP13	uc010ssp.1	Q7Z6B7	OTTHUMG00000168750	ENST00000355086.3:c.700C>A	12.37:g.64437254C>A	ENSP00000347198:p.Leu234Ile					SRGAP1_uc001srt.2_Missense_Mutation_p.L234I|SRGAP1_uc001srv.2_Missense_Mutation_p.L194I	p.L234I	NM_020762	NP_065813	Q7Z6B7	SRGP1_HUMAN	GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)	6	756	+			234					Q9H8A3|Q9P2P2	Missense_Mutation	SNP	ENST00000355086.3	37	c.700C>A	CCDS8967.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.279909	0.80692	.	.	ENSG00000196935	ENST00000355086;ENST00000357825;ENST00000543397	T;T;T	0.55052	0.54;0.54;0.54	5.56	3.71	0.42584	.	0.000000	0.28790	U	0.014135	T	0.65657	0.2712	M	0.88181	2.935	0.58432	D	0.999999	P;P;P	0.50943	0.83;0.883;0.94	P;P;P	0.50590	0.498;0.645;0.565	T	0.71487	-0.4578	9	.	.	.	.	10.3395	0.43868	0.0:0.7886:0.0:0.2114	.	234;194;234	Q7Z6B7;G5EA48;Q7Z6B7-2	SRGP1_HUMAN;.;.	I	234;234;194	ENSP00000347198:L234I;ENSP00000350480:L234I;ENSP00000437948:L194I	.	L	+	1	2	SRGAP1	62723521	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	4.722000	0.61958	1.503000	0.48686	0.563000	0.77884	CTA		0.343	SRGAP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400896.1			33	16	1	0	8.69298e-16	0.006999	1.1821e-15	33	16				
XPOT	11260	broad.mit.edu	37	12	64812733	64812733	+	Silent	SNP	G	G	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr12:64812733G>A	ENST00000332707.5	+	6	877	c.348G>A	c.(346-348)gaG>gaA	p.E116E		NM_007235.4	NP_009166.2	O43592	XPOT_HUMAN	exportin, tRNA	116	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)	p.E116E(1)		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)		TTGTTACAGAGTATCTCACTA	0.438																																							uc001ssb.2		NA																	1	Substitution - coding silent(1)		kidney(1)	ovary(2)	2						c.(346-348)GAG>GAA		tRNA exportin							113.0	107.0	109.0					12																	64812733		2203	4300	6503	SO:0001819	synonymous_variant	11260				intracellular protein transport|tRNA export from nucleus	cytoplasm|nucleoplasm	protein transporter activity|tRNA binding	g.chr12:64812733G>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.348G>A	12.37:g.64812733G>A						XPOT_uc009zqm.1_Silent_p.E26E	p.E116E	NM_007235	NP_009166	O43592	XPOT_HUMAN		GBM - Glioblastoma multiforme(28;0.0404)	6	774	+			116			Necessary for interaction with Ran, nuclear localization and nuclear import.		A6NLH1|O43784|Q8WUG2|Q9BVS7	Silent	SNP	ENST00000332707.5	37	c.348G>A	CCDS31852.1																																																																																				0.438	XPOT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401122.1	NM_007235		3	87	0	0	0	0.009096	0	3	87				
TRHDE	29953	broad.mit.edu	37	12	72667195	72667195	+	Missense_Mutation	SNP	C	C	A	rs573702596		TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr12:72667195C>A	ENST00000261180.4	+	1	733	c.637C>A	c.(637-639)Caa>Aaa	p.Q213K	TRHDE-AS1_ENST00000550334.1_RNA|TRHDE-AS1_ENST00000435350.1_RNA|TRHDE-AS1_ENST00000426250.3_RNA	NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	213					cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						CCTCTACCCGCAAACCCAGGT	0.567																																							uc001sxa.2		NA																	0				ovary(2)|skin(1)	3						c.(637-639)CAA>AAA		thyrotropin-releasing hormone degrading enzyme							60.0	60.0	60.0					12																	72667195		2203	4300	6503	SO:0001583	missense	29953				cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding	g.chr12:72667195C>A	AF126372	CCDS9004.1	12q15-q21	2012-07-25		2005-08-09		ENSG00000072657	3.4.19.6		30748	protein-coding gene	gene with protein product	"""pyroglutamyl-peptidase II"", ""pyroglutamyl aminopeptidase II"", ""TRH-specific aminopeptidase"""	606950				10491199, 12975309	Standard	NM_013381		Approved	PGPEP2, TRH-DE, PAP-II	uc001sxa.3	Q9UKU6		ENST00000261180.4:c.637C>A	12.37:g.72667195C>A	ENSP00000261180:p.Gln213Lys					LOC283392_uc010stv.1_5'UTR	p.Q213K	NM_013381	NP_037513	Q9UKU6	TRHDE_HUMAN			1	667	+			213			Extracellular (Potential).		A5PL19|Q6UWJ4	Missense_Mutation	SNP	ENST00000261180.4	37	c.637C>A	CCDS9004.1	.	.	.	.	.	.	.	.	.	.	C	13.69	2.313063	0.40895	.	.	ENSG00000072657	ENST00000261180	T	0.02323	4.34	5.11	5.11	0.69529	Peptidase M1, membrane alanine aminopeptidase, N-terminal (1);	0.420665	0.24269	N	0.040003	T	0.01523	0.0049	N	0.02357	-0.585	0.29710	N	0.839452	B	0.16396	0.017	B	0.11329	0.006	T	0.33214	-0.9877	10	0.05721	T	0.95	.	17.3223	0.87239	0.0:1.0:0.0:0.0	.	213	Q9UKU6	TRHDE_HUMAN	K	213	ENSP00000261180:Q213K	ENSP00000261180:Q213K	Q	+	1	0	TRHDE	70953462	0.986000	0.35501	0.914000	0.36105	0.940000	0.58332	2.923000	0.48868	2.362000	0.80069	0.514000	0.50259	CAA		0.567	TRHDE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405380.1	NM_013381		12	114	1	0	6.31663e-08	0.003163	7.38526e-08	12	114				
OSBPL8	114882	broad.mit.edu	37	12	76786453	76786453	+	Silent	SNP	C	C	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr12:76786453C>T	ENST00000261183.3	-	10	1316	c.837G>A	c.(835-837)aaG>aaA	p.K279K	OSBPL8_ENST00000393249.2_Silent_p.K237K|OSBPL8_ENST00000393250.4_Silent_p.K237K	NM_020841.4	NP_065892.1	Q9BZF1	OSBL8_HUMAN	oxysterol binding protein-like 8	279					fat cell differentiation (GO:0045444)|lipid transport (GO:0006869)|negative regulation of cell migration (GO:0030336)|negative regulation of sequestering of triglyceride (GO:0010891)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of protein kinase B signaling (GO:0051897)|protein localization to nuclear pore (GO:0090204)	membrane (GO:0016020)|nuclear membrane (GO:0031965)	cholesterol binding (GO:0015485)			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(2)	28						GGTCATGTTCCTTTCCTTCTC	0.408																																							uc001sye.1		NA																	0				ovary(1)	1						c.(835-837)AAG>AAA		oxysterol-binding protein-like protein 8 isoform							251.0	194.0	214.0					12																	76786453		2203	4300	6503	SO:0001819	synonymous_variant	114882				lipid transport		lipid binding	g.chr12:76786453C>T	AF392452	CCDS31862.1, CCDS41814.1	12q14	2013-01-10				ENSG00000091039		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	16396	protein-coding gene	gene with protein product		606736				1735225, 17991739	Standard	NM_020841		Approved	OSBP10, ORP8, MST120, MSTP120	uc001sye.1	Q9BZF1		ENST00000261183.3:c.837G>A	12.37:g.76786453C>T						OSBPL8_uc001syf.1_Silent_p.K237K|OSBPL8_uc001syg.1_Silent_p.K237K|OSBPL8_uc001syh.1_Silent_p.K254K	p.K279K	NM_020841	NP_065892	Q9BZF1	OSBL8_HUMAN			10	1317	-			279					A8K1T2|E9PE66|E9PE68|Q52LQ3|Q68D75|Q8WXP8|Q9P277	Silent	SNP	ENST00000261183.3	37	c.837G>A	CCDS31862.1																																																																																				0.408	OSBPL8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000406357.1	NM_020841		10	69	0	0	0	0.000978	0	10	69				
TMTC3	160418	broad.mit.edu	37	12	88584229	88584229	+	Splice_Site	SNP	G	G	C			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr12:88584229G>C	ENST00000266712.6	+	12	1756		c.e12-1			NM_181783.3	NP_861448.2	Q6ZXV5	TMTC3_HUMAN	transmembrane and tetratricopeptide repeat containing 3						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						CTTCTAAACAGATTATTCCTG	0.348																																							uc001tau.2		NA																	0				skin(1)	1						c.e12-1		transmembrane and tetratricopeptide repeat							49.0	49.0	49.0					12																	88584229		2203	4300	6503	SO:0001630	splice_region_variant	160418					integral to membrane	binding	g.chr12:88584229G>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.1537-1G>C	12.37:g.88584229G>C							p.I513_splice	NM_181783	NP_861448	Q6ZXV5	TMTC3_HUMAN			12	1757	+								Q5CZ86|Q5H9T6|Q68DQ6|Q68DX0|Q7Z332|Q8NC50	Splice_Site	SNP	ENST00000266712.6	37	c.1537_splice	CCDS9032.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.468056	0.84533	.	.	ENSG00000139324	ENST00000266712	.	.	.	5.12	5.12	0.69794	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.9186	0.92516	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TMTC3	87108360	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.360000	0.97119	2.546000	0.85860	0.591000	0.81541	.		0.348	TMTC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406421.1	NM_181783	Intron	12	59	0	0	0	0.001855	0	12	59				
AMDHD1	144193	broad.mit.edu	37	12	96354210	96354210	+	Missense_Mutation	SNP	A	A	G			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr12:96354210A>G	ENST00000266736.2	+	5	728	c.622A>G	c.(622-624)Atc>Gtc	p.I208V		NM_152435.2	NP_689648.2	Q96NU7	HUTI_HUMAN	amidohydrolase domain containing 1	208					cellular nitrogen compound metabolic process (GO:0034641)|histidine catabolic process (GO:0006548)|histidine catabolic process to glutamate and formamide (GO:0019556)|histidine catabolic process to glutamate and formate (GO:0019557)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	imidazolonepropionase activity (GO:0050480)|metal ion binding (GO:0046872)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|skin(1)	22						TGATGACATCATCAATAACCA	0.403																																							uc001tel.1		NA																	0				central_nervous_system(1)	1						c.(622-624)ATC>GTC		amidohydrolase domain containing 1							92.0	86.0	88.0					12																	96354210		2203	4300	6503	SO:0001583	missense	144193				histidine catabolic process to glutamate and formamide	cytosol	imidazolonepropionase activity|metal ion binding	g.chr12:96354210A>G	AB075878	CCDS9057.1	12q23.1	2006-02-02				ENSG00000139344			28577	protein-coding gene	gene with protein product							Standard	NM_152435		Approved	MGC35366	uc001tel.2	Q96NU7	OTTHUMG00000170353	ENST00000266736.2:c.622A>G	12.37:g.96354210A>G	ENSP00000266736:p.Ile208Val					AMDHD1_uc009zth.1_Missense_Mutation_p.I99V	p.I208V	NM_152435	NP_689648	Q96NU7	HUTI_HUMAN			5	728	+			208					A8K463|Q68CI8	Missense_Mutation	SNP	ENST00000266736.2	37	c.622A>G	CCDS9057.1	.	.	.	.	.	.	.	.	.	.	A	1.834	-0.469215	0.04445	.	.	ENSG00000139344	ENST00000266736	T	0.39406	1.08	5.55	-3.23	0.05109	Metal-dependent hydrolase, composite domain (1);	0.514153	0.23658	N	0.045854	T	0.23846	0.0577	N	0.17345	0.48	0.33311	D	0.566142	B	0.09022	0.002	B	0.13407	0.009	T	0.09314	-1.0680	10	0.27082	T	0.32	-0.8538	14.641	0.68726	0.4141:0.0:0.5859:0.0	.	208	Q96NU7	HUTI_HUMAN	V	208	ENSP00000266736:I208V	ENSP00000266736:I208V	I	+	1	0	AMDHD1	94878341	0.997000	0.39634	0.056000	0.19401	0.066000	0.16364	0.610000	0.24253	-0.855000	0.04125	-0.250000	0.11733	ATC		0.403	AMDHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408640.1	NM_152435		8	43	0	0	0	0.008291	0	8	43				
CFAP54	144535	broad.mit.edu	37	12	97158910	97158910	+	Missense_Mutation	SNP	T	T	G			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr12:97158910T>G	ENST00000524981.4	+	60	8218	c.8195T>G	c.(8194-8196)aTg>aGg	p.M2732R				Q96N23	CL055_HUMAN		0																	AATACTAGAATGCATAAAGTT	0.323																																							uc001tet.1		NA																	0				skin(6)|ovary(1)	7						c.(3469-3471)ATG>AGG		hypothetical protein LOC374467							88.0	86.0	87.0					12																	97158910		2203	4297	6500	SO:0001583	missense	374467							g.chr12:97158910T>G																												ENST00000524981.4:c.8195T>G	12.37:g.97158910T>G	ENSP00000431759:p.Met2732Arg						p.M1157R	NM_198520	NP_940922	Q6ZTY8	CL063_HUMAN			27	3548	+			1157						Missense_Mutation	SNP	ENST00000524981.4	37	c.3470T>G		.	.	.	.	.	.	.	.	.	.	T	3.429	-0.116502	0.06838	.	.	ENSG00000188596	ENST00000524981;ENST00000342887	.	.	.	5.66	-2.38	0.06622	.	0.602705	0.15635	N	0.252173	T	0.15349	0.0370	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.12837	0.008	T	0.15093	-1.0449	9	0.52906	T	0.07	-0.402	6.149	0.20301	0.1716:0.3189:0.0:0.5096	.	1157	Q6ZTY8	CL063_HUMAN	R	2732;1157	.	ENSP00000345466:M1157R	M	+	2	0	C12orf63	95683041	0.000000	0.05858	0.001000	0.08648	0.422000	0.31414	-0.659000	0.05323	-0.133000	0.11537	-0.718000	0.03613	ATG		0.323	C12orf55-003	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000395046.4			66	68	0	0	0	0.00361	0	66	68				
ANKS1B	56899	broad.mit.edu	37	12	100166819	100166819	+	Missense_Mutation	SNP	G	G	C			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr12:100166819G>C	ENST00000547776.2	-	8	1008	c.1009C>G	c.(1009-1011)Ctc>Gtc	p.L337V	ANKS1B_ENST00000547010.1_Intron|ANKS1B_ENST00000329257.7_Missense_Mutation_p.L337V	NM_152788.4	NP_690001.3	Q7Z6G8	ANS1B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1B	337						cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	ephrin receptor binding (GO:0046875)			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		TCTTGACAGAGTTTTATTTCA	0.333																																							uc001tge.1		NA																	0					0						c.(1009-1011)CTC>GTC		cajalin 2 isoform a							121.0	113.0	115.0					12																	100166819		1810	4075	5885	SO:0001583	missense	56899					Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane		g.chr12:100166819G>C	AF145204	CCDS55864.1, CCDS55865.1, CCDS55866.1, CCDS55867.1, CCDS55868.1, CCDS55869.1, CCDS55870.1, CCDS55871.1, CCDS55872.1	12q23.1	2013-01-10						"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	24600	protein-coding gene	gene with protein product		607815				10490826, 12415113	Standard	NM_020140		Approved	EB-1, AIDA-1, cajalin-2, ANKS2	uc001tge.2	Q7Z6G8		ENST00000547776.2:c.1009C>G	12.37:g.100166819G>C	ENSP00000449629:p.Leu337Val					ANKS1B_uc001tgf.1_Intron|ANKS1B_uc009ztt.1_Missense_Mutation_p.L303V	p.L337V	NM_152788	NP_690001	Q7Z6G8	ANS1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)	8	1426	-		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)	337					A5PKY5|A7E259|A8K153|A8MSN4|B4DFP6|B4DH98|F8VPM3|F8VZR9|F8WC27|Q5XLJ0|Q6IVB5|Q6NUS4|Q7Z6G6|Q7Z6G7|Q8TAP3|Q9NRX7|Q9Y5K9	Missense_Mutation	SNP	ENST00000547776.2	37	c.1009C>G	CCDS55872.1	.	.	.	.	.	.	.	.	.	.	G	2.310	-0.358119	0.05138	.	.	ENSG00000185046	ENST00000547776;ENST00000329257;ENST00000549866	T;T;T	0.49432	0.96;0.96;0.78	5.47	5.47	0.80525	.	0.163098	0.40385	N	0.001119	T	0.46658	0.1404	L	0.36672	1.1	0.80722	D	1	P;B	0.50943	0.94;0.063	P;B	0.51135	0.66;0.053	T	0.25537	-1.0129	9	.	.	.	-6.0352	11.6947	0.51536	0.0883:0.0:0.9117:0.0	.	303;337	F8VVQ4;Q7Z6G8	.;ANS1B_HUMAN	V	337;337;303	ENSP00000449629:L337V;ENSP00000331381:L337V;ENSP00000449894:L303V	.	L	-	1	0	ANKS1B	98690950	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.129000	0.50500	2.748000	0.94277	0.655000	0.94253	CTC		0.333	ANKS1B-003	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000408421.3	NM_020140		25	19	0	0	0	0.008361	0	25	19				
SLC17A8	246213	broad.mit.edu	37	12	100811895	100811895	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr12:100811895G>T	ENST00000323346.5	+	11	1699	c.1386G>T	c.(1384-1386)atG>atT	p.M462I	SLC17A8_ENST00000552697.1_3'UTR|SLC17A8_ENST00000392989.3_Missense_Mutation_p.M412I	NM_001145288.1|NM_139319.2	NP_001138760.1|NP_647480.1	Q8NDX2	VGLU3_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 8	462					ion transport (GO:0006811)|neurotransmitter transport (GO:0006836)|sensory perception of sound (GO:0007605)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|synaptic vesicle membrane (GO:0030672)	L-glutamate transmembrane transporter activity (GO:0005313)|symporter activity (GO:0015293)			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	44						TCTCTGGAATGGTCTGTCCCC	0.502																																							uc010svi.1		NA																	0				ovary(3)	3						c.(1384-1386)ATG>ATT		solute carrier family 17 (sodium-dependent							176.0	161.0	166.0					12																	100811895		2203	4300	6503	SO:0001583	missense	246213				neurotransmitter transport|sensory perception of sound|sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity	g.chr12:100811895G>T	AJ459241	CCDS9077.1, CCDS44957.1	12q23.1	2013-07-18	2013-07-18		ENSG00000179520	ENSG00000179520		"""Solute carriers"""	20151	protein-coding gene	gene with protein product	"""vesicular glutamate transporter 3"""	607557	"""deafness, autosomal dominant 25"", ""solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 8"""	DFNA25		12151341	Standard	NM_139319		Approved	VGLUT3	uc010svi.2	Q8NDX2	OTTHUMG00000170358	ENST00000323346.5:c.1386G>T	12.37:g.100811895G>T	ENSP00000316909:p.Met462Ile					SLC17A8_uc009ztx.2_Missense_Mutation_p.M412I	p.M462I	NM_139319	NP_647480	Q8NDX2	VGLU3_HUMAN			11	1699	+			462			Helical; (Potential).		B3KXZ6|B7ZKV4|Q17RQ8	Missense_Mutation	SNP	ENST00000323346.5	37	c.1386G>T	CCDS9077.1	.	.	.	.	.	.	.	.	.	.	G	16.83	3.232355	0.58777	.	.	ENSG00000179520	ENST00000323346;ENST00000392989	T;T	0.35789	1.29;1.29	5.51	5.51	0.81932	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.24084	0.0583	N	0.10664	0.02	0.80722	D	1	B;B	0.28880	0.226;0.022	B;B	0.37091	0.241;0.025	T	0.05386	-1.0888	10	0.02654	T	1	.	19.8472	0.96713	0.0:0.0:1.0:0.0	.	462;412	Q8NDX2;Q8NDX2-2	VGLU3_HUMAN;.	I	462;412	ENSP00000316909:M462I;ENSP00000376715:M412I	ENSP00000316909:M462I	M	+	3	0	SLC17A8	99336026	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.810000	0.99221	2.769000	0.95229	0.650000	0.86243	ATG		0.502	SLC17A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408673.2	NM_139319		48	57	1	0	3.21867e-24	0.00361	4.77594e-24	48	57				
STAB2	55576	broad.mit.edu	37	12	104025458	104025458	+	Silent	SNP	C	C	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr12:104025458C>T	ENST00000388887.2	+	6	774	c.570C>T	c.(568-570)ccC>ccT	p.P190P		NM_017564.9	NP_060034.9			stabilin 2											NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						ACACTGGCCCCAAGTGTGACA	0.483																																							uc001tjw.2		NA																	0				ovary(9)|skin(5)	14						c.(568-570)CCC>CCT		stabilin 2 precursor							213.0	159.0	177.0					12																	104025458		2203	4300	6503	SO:0001819	synonymous_variant	55576				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	g.chr12:104025458C>T	AF160476	CCDS31888.1	12q23.3	2007-01-29				ENSG00000136011			18629	protein-coding gene	gene with protein product	"""hyaluronic acid receptor for endocytosis"""	608561				11829752, 12077138	Standard	XR_429107		Approved	DKFZP434E0321, FELL, STAB-2, HARE, FEEL-2	uc001tjw.3	Q8WWQ8	OTTHUMG00000170056	ENST00000388887.2:c.570C>T	12.37:g.104025458C>T							p.P190P	NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN			6	756	+			190			Extracellular (Potential).|EGF-like 2.			Silent	SNP	ENST00000388887.2	37	c.570C>T	CCDS31888.1																																																																																				0.483	STAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407089.1			20	129	0	0	0	0.001882	0	20	129				
STAB2	55576	broad.mit.edu	37	12	104049082	104049082	+	Silent	SNP	A	A	G			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr12:104049082A>G	ENST00000388887.2	+	14	1809	c.1605A>G	c.(1603-1605)ttA>ttG	p.L535L	RP11-341G23.2_ENST00000551905.1_RNA	NM_017564.9	NP_060034.9			stabilin 2											NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						GATCTTTGTTAGAGGTAAGCA	0.294																																							uc001tjw.2		NA																	0				ovary(9)|skin(5)	14						c.(1603-1605)TTA>TTG		stabilin 2 precursor							107.0	109.0	108.0					12																	104049082		2203	4300	6503	SO:0001819	synonymous_variant	55576				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	g.chr12:104049082A>G	AF160476	CCDS31888.1	12q23.3	2007-01-29				ENSG00000136011			18629	protein-coding gene	gene with protein product	"""hyaluronic acid receptor for endocytosis"""	608561				11829752, 12077138	Standard	XR_429107		Approved	DKFZP434E0321, FELL, STAB-2, HARE, FEEL-2	uc001tjw.3	Q8WWQ8	OTTHUMG00000170056	ENST00000388887.2:c.1605A>G	12.37:g.104049082A>G							p.L535L	NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN			14	1791	+			535			Extracellular (Potential).|FAS1 2.			Silent	SNP	ENST00000388887.2	37	c.1605A>G	CCDS31888.1																																																																																				0.294	STAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407089.1			53	53	0	0	0	0.00361	0	53	53				
STAB2	55576	broad.mit.edu	37	12	104152923	104152923	+	Silent	SNP	C	C	A	rs112523896		TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr12:104152923C>A	ENST00000388887.2	+	65	7324	c.7120C>A	c.(7120-7122)Cgg>Agg	p.R2374R	RP11-341G23.4_ENST00000551299.1_RNA	NM_017564.9	NP_060034.9			stabilin 2											NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						CTTGTCTGGGCGGGACATCGA	0.463																																							uc001tjw.2		NA																	0				ovary(9)|skin(5)	14						c.(7120-7122)CGG>AGG		stabilin 2 precursor							142.0	128.0	133.0					12																	104152923		2203	4300	6503	SO:0001819	synonymous_variant	55576				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	g.chr12:104152923C>A	AF160476	CCDS31888.1	12q23.3	2007-01-29				ENSG00000136011			18629	protein-coding gene	gene with protein product	"""hyaluronic acid receptor for endocytosis"""	608561				11829752, 12077138	Standard	XR_429107		Approved	DKFZP434E0321, FELL, STAB-2, HARE, FEEL-2	uc001tjw.3	Q8WWQ8	OTTHUMG00000170056	ENST00000388887.2:c.7120C>A	12.37:g.104152923C>A						STAB2_uc009zug.2_RNA	p.R2374R	NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN			65	7306	+			2374			Extracellular (Potential).|FAS1 7.			Silent	SNP	ENST00000388887.2	37	c.7120C>A	CCDS31888.1																																																																																				0.463	STAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407089.1			98	60	1	0	5.41809e-49	0.00361	8.73299e-49	98	60				
MMAB	326625	broad.mit.edu	37	12	109994891	109994891	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr12:109994891C>A	ENST00000545712.2	-	9	1088	c.695G>T	c.(694-696)gGg>gTg	p.G232V	MMAB_ENST00000540016.1_Missense_Mutation_p.G180V|MMAB_ENST00000266839.5_Missense_Mutation_p.G141V	NM_052845.3	NP_443077.1	Q96EY8	MMAB_HUMAN	methylmalonic aciduria (cobalamin deficiency) cblB type	232					cobalamin biosynthetic process (GO:0009236)|cobalamin metabolic process (GO:0009235)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|cob(I)yrinic acid a,c-diamide adenosyltransferase activity (GO:0008817)			cervix(1)|kidney(1)|large_intestine(2)|lung(1)|urinary_tract(1)	6					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CTCTTGATTCCCCTCCTTCAT	0.478																																							uc001tou.2		NA																	0					0						c.(694-696)GGG>GTG		cob(I)alamin adenosyltransferase precursor	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						131.0	117.0	122.0					12																	109994891		2203	4300	6503	SO:0001583	missense	326625				cobalamin biosynthetic process	mitochondrion	ATP binding|cob(I)yrinic acid a,c-diamide adenosyltransferase activity	g.chr12:109994891C>A	AF550404	CCDS9131.1	12q24	2014-07-18	2005-07-11		ENSG00000139428	ENSG00000139428			19331	protein-coding gene	gene with protein product	"""ATP:cob(I)alamin adenosyltransferase"", ""cilia and flagella associated protein 23"""	607568	"""methylmalonic aciduria (cobalamin deficiency) type B"""			12471062, 12514191	Standard	NM_052845		Approved	cblB, CFAP23	uc001tou.3	Q96EY8	OTTHUMG00000169255	ENST00000545712.2:c.695G>T	12.37:g.109994891C>A	ENSP00000445920:p.Gly232Val					MMAB_uc001tov.2_RNA|MMAB_uc001tow.2_RNA|MMAB_uc010sxq.1_Missense_Mutation_p.G141V|MMAB_uc001tox.2_Missense_Mutation_p.G180V	p.G232V	NM_052845	NP_443077	Q96EY8	MMAB_HUMAN			9	768	-			232					C5HU05|Q9BSH0	Missense_Mutation	SNP	ENST00000545712.2	37	c.695G>T	CCDS9131.1	.	.	.	.	.	.	.	.	.	.	C	19.61	3.859647	0.71834	.	.	ENSG00000139428	ENST00000545712;ENST00000266839	D;D	0.91996	-2.89;-2.95	5.43	5.43	0.79202	Adenosylcobalamin biosynthesis, ATP:cob(I)alamin adenosyltransferase, PduO-type, N-terminal (2);Adenosylcobalamin biosynthesis, ATP:cob(I)alamin adenosyltransferase-like (2);	0.000000	0.85682	D	0.000000	D	0.97182	0.9079	H	0.95187	3.635	0.80722	D	1	D;D;D	0.76494	0.999;0.998;0.996	D;D;P	0.69479	0.964;0.943;0.871	D	0.98231	1.0483	10	0.87932	D	0	-30.1555	16.3914	0.83541	0.0:1.0:0.0:0.0	.	141;232;232	B4DHP4;B2R6J3;Q96EY8	.;.;MMAB_HUMAN	V	232;141	ENSP00000445920:G232V;ENSP00000266839:G141V	ENSP00000266839:G141V	G	-	2	0	MMAB	108479274	1.000000	0.71417	0.863000	0.33907	0.736000	0.42039	5.679000	0.68160	2.527000	0.85204	0.561000	0.74099	GGG		0.478	MMAB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403128.2			43	25	1	0	6.14515e-18	0.00361	8.62372e-18	43	25				
CUX2	23316	broad.mit.edu	37	12	111749936	111749936	+	Missense_Mutation	SNP	A	A	G			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr12:111749936A>G	ENST00000261726.6	+	16	2087	c.1933A>G	c.(1933-1935)Aca>Gca	p.T645A		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	645					cellular response to organic substance (GO:0071310)|cognition (GO:0050890)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of synapse assembly (GO:0051965)|short-term memory (GO:0007614)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						CACGCCTGAGACAGGCTCAGA	0.612																																							uc001tsa.1		NA																	0				ovary(3)|skin(2)|breast(1)	6						c.(1933-1935)ACA>GCA		cut-like 2							62.0	70.0	67.0					12																	111749936		2065	4199	6264	SO:0001583	missense	23316					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:111749936A>G	AB006631	CCDS41837.1	12q24.12	2011-06-20	2007-11-07	2007-11-07	ENSG00000111249	ENSG00000111249		"""Homeoboxes / CUT class"""	19347	protein-coding gene	gene with protein product		610648	"""cut-like 2 (Drosophila)"""	CUTL2			Standard	NM_015267		Approved	KIAA0293, CDP2	uc001tsa.2	O14529	OTTHUMG00000169546	ENST00000261726.6:c.1933A>G	12.37:g.111749936A>G	ENSP00000261726:p.Thr645Ala						p.T645A	NM_015267	NP_056082	O14529	CUX2_HUMAN			16	2086	+			645					A7E2Y4	Missense_Mutation	SNP	ENST00000261726.6	37	c.1933A>G	CCDS41837.1	.	.	.	.	.	.	.	.	.	.	a	15.40	2.823347	0.50739	.	.	ENSG00000111249	ENST00000261726	T	0.49720	0.77	4.58	4.58	0.56647	.	0.164275	0.53938	D	0.000052	T	0.42921	0.1224	M	0.67953	2.075	0.47905	D	0.999548	P	0.41313	0.745	B	0.34931	0.192	T	0.39961	-0.9588	10	0.22706	T	0.39	-3.7816	14.0233	0.64571	1.0:0.0:0.0:0.0	.	645	O14529	CUX2_HUMAN	A	645	ENSP00000261726:T645A	ENSP00000261726:T645A	T	+	1	0	CUX2	110234319	1.000000	0.71417	0.932000	0.37286	0.015000	0.08874	9.331000	0.96430	1.720000	0.51447	0.234000	0.17832	ACA		0.612	CUX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404765.1	NM_015267		6	23	0	0	0	0.006214	0	6	23				
ATXN2	6311	broad.mit.edu	37	12	111956120	111956120	+	Silent	SNP	T	T	G			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr12:111956120T>G	ENST00000377617.3	-	9	1739	c.1578A>C	c.(1576-1578)tcA>tcC	p.S526S	ATXN2_ENST00000535949.1_Silent_p.S237S|ATXN2_ENST00000542287.2_Silent_p.S261S|ATXN2_ENST00000608853.1_Silent_p.S366S|ATXN2_ENST00000389153.4_Silent_p.S261S|ATXN2_ENST00000550104.1_Silent_p.S526S|ATXN2_ENST00000549455.1_5'Flank	NM_002973.3	NP_002964.3	Q99700	ATX2_HUMAN	ataxin 2	526					cell death (GO:0008219)|cerebellar Purkinje cell differentiation (GO:0021702)|cytoplasmic mRNA processing body assembly (GO:0033962)|homeostasis of number of cells (GO:0048872)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of receptor internalization (GO:0002091)|neuromuscular process (GO:0050905)|neuron projection morphogenesis (GO:0048812)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA transport (GO:0050658)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)|trans-Golgi network (GO:0005802)	epidermal growth factor receptor binding (GO:0005154)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|RNA binding (GO:0003723)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37						AAGTGGATCTTGATGGCATGG	0.453																																							uc001tsj.2		NA																	0				ovary(1)|breast(1)	2						c.(1576-1578)TCA>TCC		ataxin 2							122.0	117.0	119.0					12																	111956120		2203	4300	6503	SO:0001819	synonymous_variant	6311				cell death|cytoplasmic mRNA processing body assembly|regulation of translation|RNA metabolic process|RNA transport|stress granule assembly	nucleus|perinuclear region of cytoplasm|polysome|stress granule|trans-Golgi network	protein C-terminus binding|RNA binding	g.chr12:111956120T>G	U80749	CCDS31902.1	12q23-q24.1	2014-09-17	2004-08-12	2004-08-13	ENSG00000204842	ENSG00000204842		"""Ataxins"""	10555	protein-coding gene	gene with protein product	"""trinucleotide repeat containing 13"""	601517	"""spinocerebellar ataxia 2 (olivopontocerebellar ataxia 2, autosomal dominant, ataxin 2)"""	SCA2, TNRC13		8358438, 9225980	Standard	NM_002973		Approved	ATX2	uc001tsj.3	Q99700	OTTHUMG00000133475	ENST00000377617.3:c.1578A>C	12.37:g.111956120T>G						ATXN2_uc001tsh.2_Silent_p.S261S|ATXN2_uc001tsi.2_Silent_p.S237S|ATXN2_uc001tsk.2_RNA|ATXN2_uc001tsm.1_Silent_p.S261S	p.S526S	NM_002973	NP_002964	Q99700	ATX2_HUMAN			9	1740	-			526					A6NLD4|Q6ZQZ7|Q99493	Silent	SNP	ENST00000377617.3	37	c.1578A>C	CCDS31902.1																																																																																				0.453	ATXN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257351.3	NM_002973		31	137	0	0	0	0.004878	0	31	137				
ACAD10	80724	broad.mit.edu	37	12	112130648	112130648	+	Silent	SNP	G	G	C			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr12:112130648G>C	ENST00000313698.4	+	2	290	c.135G>C	c.(133-135)gtG>gtC	p.V45V	ACAD10_ENST00000392636.2_5'UTR|ACAD10_ENST00000549590.1_Silent_p.V45V|ACAD10_ENST00000455480.2_Silent_p.V45V|ACAD10_ENST00000413681.3_3'UTR	NM_025247.5	NP_079523.3	Q6JQN1	ACD10_HUMAN	acyl-CoA dehydrogenase family, member 10	45						mitochondrion (GO:0005739)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)|hydrolase activity (GO:0016787)|transferase activity, transferring phosphorus-containing groups (GO:0016772)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(17)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(5)	47						ACAGAGCGGTGATTTTCGACA	0.567																																							uc001tsq.2		NA																	0				ovary(2)	2						c.(133-135)GTG>GTC		acyl-Coenzyme A dehydrogenase family, member 10							183.0	151.0	162.0					12																	112130648		2203	4300	6503	SO:0001819	synonymous_variant	80724						acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|hydrolase activity|transferase activity, transferring phosphorus-containing groups	g.chr12:112130648G>C	AY323912	CCDS31903.1, CCDS44973.1	12q24.12	2012-10-02	2010-04-30		ENSG00000111271	ENSG00000111271			21597	protein-coding gene	gene with protein product		611181	"""acyl-Coenzyme A dehydrogenase family, member 10"""			15560374	Standard	NM_025247		Approved	MGC5601	uc009zvx.3	Q6JQN1	OTTHUMG00000169602	ENST00000313698.4:c.135G>C	12.37:g.112130648G>C						ACAD10_uc009zvw.2_Silent_p.V45V|ACAD10_uc001tso.3_Silent_p.V45V|ACAD10_uc001tsp.2_Silent_p.V45V|ACAD10_uc009zvx.2_Silent_p.V45V	p.V45V	NM_025247	NP_079523	Q6JQN1	ACD10_HUMAN			2	335	+			45					G3XAJ0|Q8N828|Q8NAP2|Q96BX5	Silent	SNP	ENST00000313698.4	37	c.135G>C	CCDS31903.1																																																																																				0.567	ACAD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368307.1	NM_025247		24	114	0	0	0	0.008361	0	24	114				
HECTD4	283450	broad.mit.edu	37	12	112717042	112717042	+	Silent	SNP	T	T	C	rs373751710		TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr12:112717042T>C	ENST00000430131.2	-	9	1640	c.495A>G	c.(493-495)tcA>tcG	p.S165S	HECTD4_ENST00000550722.1_Silent_p.S415S|HECTD4_ENST00000377560.5_Silent_p.S415S			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	165					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)										TTTTTAAAGATGACAAACCAC	0.398																																							uc009zwc.2		NA																	0				ovary(1)|lung(1)	2						c.(493-495)TCA>TCG		chromosome 12 open reading frame 51		T		1,3691		0,1,1845	72.0	71.0	71.0		1245	-2.8	1.0	12		71	0,8170		0,0,4085	no	coding-synonymous	C12orf51	NM_001109662.2		0,1,5930	CC,CT,TT		0.0,0.0271,0.0084		415/4247	112717042	1,11861	1846	4085	5931	SO:0001819	synonymous_variant	283450							g.chr12:112717042T>C	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.495A>G	12.37:g.112717042T>C							p.S165S	NM_001109662	NP_001103132					3	513	-								L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Silent	SNP	ENST00000430131.2	37	c.495A>G																																																																																					0.398	HECTD4-202	KNOWN	basic	protein_coding	protein_coding		NM_173813		45	18	0	0	0	0.00361	0	45	18				
ATP8A2	51761	broad.mit.edu	37	13	26402301	26402301	+	Missense_Mutation	SNP	G	G	C			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr13:26402301G>C	ENST00000381655.2	+	28	2867	c.2725G>C	c.(2725-2727)Gaa>Caa	p.E909Q	ATP8A2_ENST00000491840.1_3'UTR|ATP8A2_ENST00000255283.8_Intron	NM_016529.4	NP_057613.4	Q9NTI2	AT8A2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8A, member 2	869					aging (GO:0007568)|axonogenesis (GO:0007409)|detection of light stimulus involved in visual perception (GO:0050908)|eating behavior (GO:0042755)|inner ear morphogenesis (GO:0042472)|involuntary skeletal muscle contraction (GO:0003011)|negative regulation of cell proliferation (GO:0008285)|neurofilament cytoskeleton organization (GO:0060052)|neuromuscular process controlling posture (GO:0050884)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phospholipid translocation (GO:0061092)|response to auditory stimulus (GO:0010996)|retina layer formation (GO:0010842)|skin development (GO:0043588)	cell projection (GO:0042995)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1)	72		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)		GATTTTATTTGAACGTTGGTG	0.373																																							uc001uqk.2		NA																	0				ovary(2)|large_intestine(1)|skin(1)	4						c.(2725-2727)GAA>CAA		ATPase, aminophospholipid transporter-like,							274.0	251.0	258.0					13																	26402301		1895	4122	6017	SO:0001583	missense	51761				ATP biosynthetic process|negative regulation of cell proliferation	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr13:26402301G>C	AL137256	CCDS41873.1	13q12	2010-04-20	2010-03-31		ENSG00000132932	ENSG00000132932	3.6.3.1	"""ATPases / P-type"""	13533	protein-coding gene	gene with protein product		605870	"""ATPase, aminophospholipid transporter-like, Class I, type 8A, member 2"", ""ATPase, aminophospholipid transporter-like, class I, type 8A, member 2"""			11015572, 19778899	Standard	NM_016529		Approved	ATPIB, ML-1	uc001uqk.3	Q9NTI2	OTTHUMG00000016611	ENST00000381655.2:c.2725G>C	13.37:g.26402301G>C	ENSP00000371070:p.Glu909Gln					ATP8A2_uc010tdi.1_Intron|ATP8A2_uc010tdj.1_RNA|ATP8A2_uc010aaj.1_Missense_Mutation_p.E459Q	p.E909Q	NM_016529	NP_057613	Q9NTI2	AT8A2_HUMAN		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)	28	2867	+		Breast(139;0.0201)|Lung SC(185;0.0225)	869			Extracellular (Potential).		Q9H527|Q9NPU6|Q9NTL2|Q9NYM3	Missense_Mutation	SNP	ENST00000381655.2	37	c.2725G>C	CCDS41873.1	.	.	.	.	.	.	.	.	.	.	G	29.1	4.980904	0.92982	.	.	ENSG00000132932	ENST00000381655;ENST00000544544	T	0.41065	1.01	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.72574	0.3477	M	0.88704	2.975	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.74674	0.984;0.964	T	0.75280	-0.3373	10	0.72032	D	0.01	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	689;869	F5GZN5;Q9NTI2	.;AT8A2_HUMAN	Q	909;689	ENSP00000371070:E909Q	ENSP00000371070:E909Q	E	+	1	0	ATP8A2	25300301	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.476000	0.97823	2.941000	0.99782	0.655000	0.94253	GAA		0.373	ATP8A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044236.2	NM_016529		23	55	0	0	0	0.007291	0	23	55				
NBEA	26960	broad.mit.edu	37	13	36046592	36046592	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr13:36046592G>T	ENST00000400445.3	+	41	7038	c.6504G>T	c.(6502-6504)aaG>aaT	p.K2168N	NBEA_ENST00000379939.2_Missense_Mutation_p.K2165N|NBEA_ENST00000310336.4_Missense_Mutation_p.K2168N|NBEA_ENST00000540320.1_Missense_Mutation_p.K2168N	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	2168					protein localization (GO:0008104)	cytosol (GO:0005829)|endomembrane system (GO:0012505)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)				NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		TGGTGGCCAAGGGGACTCTCT	0.567																																							uc001uvb.2		NA																	0				ovary(9)|large_intestine(2)	11						c.(6502-6504)AAG>AAT		neurobeachin							75.0	77.0	77.0					13																	36046592		1993	4181	6174	SO:0001583	missense	26960					cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding	g.chr13:36046592G>T	AF467288	CCDS45026.1, CCDS55894.1	13q13	2014-09-17			ENSG00000172915	ENSG00000172915		"""A-kinase anchor proteins"", ""WD repeat domain containing"""	7648	protein-coding gene	gene with protein product		604889				10501977	Standard	NM_015678		Approved	KIAA1544, BCL8B, FLJ10197	uc021ric.1	Q8NFP9	OTTHUMG00000016724	ENST00000400445.3:c.6504G>T	13.37:g.36046592G>T	ENSP00000383295:p.Lys2168Asn					NBEA_uc010abi.2_Missense_Mutation_p.K824N|NBEA_uc010tee.1_Translation_Start_Site	p.K2168N	NM_015678	NP_056493	Q8NFP9	NBEA_HUMAN		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)	41	6710	+		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)	2168					B7Z2H9|Q5T320|Q9HCM8|Q9NSU1|Q9NW98|Q9Y6J1	Missense_Mutation	SNP	ENST00000400445.3	37	c.6504G>T	CCDS45026.1	.	.	.	.	.	.	.	.	.	.	G	16.67	3.188863	0.57909	.	.	ENSG00000172915	ENST00000540320;ENST00000400445;ENST00000379939;ENST00000310336;ENST00000422518	T;T;T;T	0.51817	0.69;0.69;0.69;0.69	5.51	-0.774	0.10991	PH-BEACH domain (1);	0.105602	0.64402	D	0.000007	T	0.43322	0.1242	M	0.69823	2.125	0.80722	D	1	B;B	0.14012	0.004;0.009	B;B	0.16289	0.009;0.015	T	0.37596	-0.9699	10	0.72032	D	0.01	.	10.0921	0.42453	0.4374:0.0:0.5626:0.0	.	2168;2165	Q8NFP9;Q5T321	NBEA_HUMAN;.	N	2168;2168;2165;2168;795	ENSP00000440951:K2168N;ENSP00000383295:K2168N;ENSP00000369271:K2165N;ENSP00000308534:K2168N	ENSP00000308534:K2168N	K	+	3	2	NBEA	34944592	0.750000	0.28316	0.991000	0.47740	0.996000	0.88848	-0.157000	0.10085	-0.245000	0.09625	0.563000	0.77884	AAG		0.567	NBEA-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_015678		22	27	1	0	1.64293e-13	0.00333	2.16413e-13	22	27				
TRPC4	7223	broad.mit.edu	37	13	38320089	38320089	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr13:38320089C>A	ENST00000379705.3	-	3	1739	c.882G>T	c.(880-882)aaG>aaT	p.K294N	TRPC4_ENST00000447043.1_Missense_Mutation_p.K294N|TRPC4_ENST00000338947.5_Intron|TRPC4_ENST00000358477.2_Missense_Mutation_p.K294N|TRPC4_ENST00000426868.2_Missense_Mutation_p.K294N|TRPC4_ENST00000379681.3_Missense_Mutation_p.K294N|TRPC4_ENST00000379679.1_Intron|TRPC4_ENST00000379673.2_Missense_Mutation_p.K294N|TRPC4_ENST00000355779.2_Missense_Mutation_p.K294N			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	294	Multimerization domain. {ECO:0000250}.				axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|gamma-aminobutyric acid secretion (GO:0014051)|ion transmembrane transport (GO:0034220)|oligodendrocyte differentiation (GO:0048709)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|calcium channel complex (GO:0034704)|caveola (GO:0005901)|cell surface (GO:0009986)|cortical cytoskeleton (GO:0030863)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		TTTGACGGTACTTAATGGCCA	0.373																																							uc001uws.2		NA																	0				ovary(3)|skin(2)|breast(1)	6						c.(880-882)AAG>AAT		transient receptor potential cation channel,							243.0	232.0	236.0					13																	38320089		2203	4300	6503	SO:0001583	missense	7223				axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity	g.chr13:38320089C>A	U40983	CCDS9365.1, CCDS45035.1, CCDS45036.1, CCDS45038.1, CCDS45039.1	13q13.3	2013-01-10			ENSG00000133107	ENSG00000133107		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	12336	protein-coding gene	gene with protein product		603651				8646775, 16382100	Standard	NM_016179		Approved	HTRP4, TRP4	uc010abx.3	Q9UBN4	OTTHUMG00000016752	ENST00000379705.3:c.882G>T	13.37:g.38320089C>A	ENSP00000369027:p.Lys294Asn					TRPC4_uc010abv.2_5'UTR|TRPC4_uc001uwt.2_Missense_Mutation_p.K294N|TRPC4_uc010tey.1_Missense_Mutation_p.K294N|TRPC4_uc010abw.2_Intron|TRPC4_uc010abx.2_Missense_Mutation_p.K294N|TRPC4_uc010aby.2_Missense_Mutation_p.K294N	p.K294N	NM_016179	NP_057263	Q9UBN4	TRPC4_HUMAN		all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)	3	1117	-			294			Cytoplasmic (Potential).|Multimerization domain (By similarity).		B1ALE0|B1ALE1|B1ALE2|Q15721|Q3SWS6|Q96P03|Q96P04|Q96P05|Q9UIB0|Q9UIB1|Q9UIB2	Missense_Mutation	SNP	ENST00000379705.3	37	c.882G>T	CCDS9365.1	.	.	.	.	.	.	.	.	.	.	C	16.11	3.029729	0.54790	.	.	ENSG00000133107	ENST00000379705;ENST00000379681;ENST00000426868;ENST00000355779;ENST00000358477;ENST00000379673;ENST00000447043	T;T;T;T;T;T;T	0.73152	-0.72;-0.72;-0.72;-0.72;-0.72;-0.72;-0.72	6.07	3.46	0.39613	.	0.000000	0.85682	D	0.000000	T	0.80053	0.4553	M	0.65975	2.015	0.49389	D	0.999785	D;D;D;D;D	0.89917	1.0;0.999;0.999;0.999;0.999	D;D;D;D;D	0.80764	0.982;0.979;0.994;0.987;0.986	T	0.78513	-0.2175	10	0.62326	D	0.03	-22.3163	9.3832	0.38327	0.0:0.7327:0.0:0.2673	.	294;294;294;294;294	Q9UBN4-3;Q9UBN4-4;Q9UBN4-5;Q9UBN4-2;Q9UBN4	.;.;.;.;TRPC4_HUMAN	N	294	ENSP00000369027:K294N;ENSP00000369003:K294N;ENSP00000410133:K294N;ENSP00000348025:K294N;ENSP00000351264:K294N;ENSP00000368995:K294N;ENSP00000414316:K294N	ENSP00000348025:K294N	K	-	3	2	TRPC4	37218089	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	1.196000	0.32198	0.465000	0.27167	-0.137000	0.14449	AAG		0.373	TRPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044574.2	NM_003306		47	178	1	0	1.82294e-38	0.00361	2.89205e-38	47	178				
ARL11	115761	broad.mit.edu	37	13	50204835	50204835	+	Silent	SNP	C	C	A	rs145617860		TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr13:50204835C>A	ENST00000282026.1	+	2	587	c.252C>A	c.(250-252)ctC>ctA	p.L84L	ARL11_ENST00000490932.1_Intron	NM_138450.5	NP_612459.1	Q969Q4	ARL11_HUMAN	ADP-ribosylation factor-like 11	84					hematopoietic progenitor cell differentiation (GO:0002244)|small GTPase mediated signal transduction (GO:0007264)	intracellular (GO:0005622)	GTP binding (GO:0005525)			kidney(1)|large_intestine(4)|ovary(1)	6		Lung NSC(96;2.1e-05)|Breast(56;0.00015)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.119)|Kidney(9;0.169)	GBM - Glioblastoma multiforme(99;1.67e-09)		CAGATATCCTCGTGTACGTGC	0.607																																							uc001vdf.1		NA																	0					0						c.(250-252)CTC>CTA		ADP-ribosylation factor-like 11							82.0	80.0	81.0					13																	50204835		2203	4300	6503	SO:0001819	synonymous_variant	115761				small GTPase mediated signal transduction	intracellular	GTP binding|protein binding	g.chr13:50204835C>A	AF441378	CCDS9419.1	13q14.12	2014-05-09			ENSG00000152213	ENSG00000152213		"""ADP-ribosylation factors-like"", ""ADP-ribosylation factors"""	24046	protein-coding gene	gene with protein product		609351				12477932	Standard	NM_138450		Approved	ARLTS1, FLJ33930	uc001vdf.2	Q969Q4	OTTHUMG00000016919	ENST00000282026.1:c.252C>A	13.37:g.50204835C>A							p.L84L	NM_138450	NP_612459	Q969Q4	ARL11_HUMAN	KIRC - Kidney renal clear cell carcinoma(9;0.119)|Kidney(9;0.169)	GBM - Glioblastoma multiforme(99;1.67e-09)	2	398	+		Lung NSC(96;2.1e-05)|Breast(56;0.00015)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	84						Silent	SNP	ENST00000282026.1	37	c.252C>A	CCDS9419.1																																																																																				0.607	ARL11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044929.2	NM_138450		30	54	1	0	1.61788e-16	0.002445	2.22403e-16	30	54				
CKAP2	26586	broad.mit.edu	37	13	53029722	53029722	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr13:53029722C>A	ENST00000378037.5	+	1	121	c.31C>A	c.(31-33)Cag>Aag	p.Q11K	CKAP2_ENST00000258607.5_Missense_Mutation_p.Q11K|CKAP2_ENST00000490903.1_5'Flank|CKAP2_ENST00000378034.3_Missense_Mutation_p.Q11K	NM_001098525.1|NM_018204.3	NP_001091995.1|NP_060674.3			cytoskeleton associated protein 2											breast(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(3)|skin(1)|urinary_tract(1)	20		Breast(56;0.000207)|Lung NSC(96;0.00212)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.6e-08)		CCAGGACCTGCAGCTGCCCCC	0.716																																							uc001vgv.2		NA																	0				ovary(1)|skin(1)	2						c.(31-33)CAG>AAG		cytoskeleton associated protein 2 isoform 2							30.0	33.0	32.0					13																	53029722		2200	4296	6496	SO:0001583	missense	26586				apoptosis|cell cycle	centrosome|microtubule|spindle pole		g.chr13:53029722C>A	AF177227	CCDS9435.1, CCDS41893.1, CCDS66557.1, CCDS73578.1	13q14	2014-03-21			ENSG00000136108	ENSG00000136108			1990	protein-coding gene	gene with protein product		611569				9771967	Standard	XM_005266343		Approved	LB1, FLJ10749, se20-10, TMAP	uc001vgv.2	Q8WWK9	OTTHUMG00000016967	ENST00000378037.5:c.31C>A	13.37:g.53029722C>A	ENSP00000367276:p.Gln11Lys					CKAP2_uc001vgt.2_Missense_Mutation_p.Q11K|CKAP2_uc001vgu.2_Missense_Mutation_p.Q11K|CKAP2_uc010tha.1_5'Flank	p.Q11K	NM_001098525	NP_001091995	Q8WWK9	CKAP2_HUMAN		GBM - Glioblastoma multiforme(99;2.6e-08)	1	228	+		Breast(56;0.000207)|Lung NSC(96;0.00212)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)	11						Missense_Mutation	SNP	ENST00000378037.5	37	c.31C>A	CCDS41893.1	.	.	.	.	.	.	.	.	.	.	.	19.16	3.774639	0.70107	.	.	ENSG00000136108	ENST00000398044;ENST00000258607;ENST00000378034;ENST00000378037	T;T;T	0.28454	1.61;1.61;1.61	4.84	4.84	0.62591	.	0.363924	0.23856	N	0.043892	T	0.37571	0.1008	M	0.71581	2.175	0.80722	D	1	B;P;B	0.40180	0.356;0.705;0.356	B;B;B	0.41510	0.197;0.359;0.197	T	0.30880	-0.9963	10	0.54805	T	0.06	-0.1446	13.3259	0.60459	0.0:1.0:0.0:0.0	.	11;11;11	Q8WWK9;B2RMQ4;A8MYU4	CKAP2_HUMAN;.;.	K	11	ENSP00000258607:Q11K;ENSP00000367273:Q11K;ENSP00000367276:Q11K	ENSP00000258607:Q11K	Q	+	1	0	CKAP2	51927723	1.000000	0.71417	1.000000	0.80357	0.658000	0.38924	2.887000	0.48586	2.515000	0.84797	0.655000	0.94253	CAG		0.716	CKAP2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355010.2			9	41	1	0	2.80697e-09	0.000978	3.38784e-09	9	41				
CTAGE11P	647288	broad.mit.edu	37	13	75814397	75814398	+	IGR	DNP	GG	GG	TT			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	GG	GG	-	-	GG	GG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr13:75814397_75814398GG>TT								AL162571.1 (31224 upstream) : LINC01078 (10217 downstream)																							CATACTCTCAGGTAGTGCTGCC	0.545																																							uc010ths.1		NA																	0					0						c.(79-81)CCT>AAT		Homo sapiens mRNA; cDNA DKFZp434F0327 (from clone DKFZp434F0327).																																				SO:0001628	intergenic_variant	647288							g.chr13:75814397_75814398GG>TT																													13.37:g.75814397_75814398delinsTT							p.P27N	NR_027466						1	120_121	-									Missense_Mutation	DNP		37	c.79_80CC>AA																																																																																				0	0.545									6	29	0	0	0	0.004672	0	6	29				
SLITRK6	84189	broad.mit.edu	37	13	86369289	86369289	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr13:86369289G>T	ENST00000400286.2	-	2	1953	c.1355C>A	c.(1354-1356)cCa>cAa	p.P452Q		NM_032229.2	NP_115605.2	Q9H5Y7	SLIK6_HUMAN	SLIT and NTRK-like family, member 6	452					adult locomotory behavior (GO:0008344)|auditory behavior (GO:0031223)|auditory receptor cell morphogenesis (GO:0002093)|axonogenesis (GO:0007409)|cochlea development (GO:0090102)|innervation (GO:0060384)|lens development in camera-type eye (GO:0002088)|linear vestibuloocular reflex (GO:0060007)|multicellular organism growth (GO:0035264)|sensory perception of sound (GO:0007605)|startle response (GO:0001964)|synapse assembly (GO:0007416)|vestibulocochlear nerve development (GO:0021562)|visual perception (GO:0007601)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)		p.P452Q(2)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		AAAGGTTCCTGGCAGTATTTC	0.358																																							uc001vll.1		NA																	2	Substitution - Missense(2)		lung(2)	large_intestine(1)|ovary(1)|central_nervous_system(1)	3						c.(1354-1356)CCA>CAA		slit and trk like 6 precursor							81.0	78.0	79.0					13																	86369289		1811	4073	5884	SO:0001583	missense	84189					integral to membrane		g.chr13:86369289G>T	AK026427	CCDS41903.1	13q31.1	2006-04-12			ENSG00000184564	ENSG00000184564			23503	protein-coding gene	gene with protein product		609681				14557068	Standard	NM_032229		Approved	FLJ22774	uc001vll.1	Q9H5Y7	OTTHUMG00000017157	ENST00000400286.2:c.1355C>A	13.37:g.86369289G>T	ENSP00000383143:p.Pro452Gln					SLITRK6_uc010afe.1_Intron	p.P452Q	NM_032229	NP_115605	Q9H5Y7	SLIK6_HUMAN		GBM - Glioblastoma multiforme(99;0.0456)	2	1814	-	all_neural(89;0.117)|Medulloblastoma(90;0.163)		452			Extracellular (Potential).|LRR 9.		A8K9S8|Q495Q0|Q6AW93|Q9HAA8|Q9NT60	Missense_Mutation	SNP	ENST00000400286.2	37	c.1355C>A	CCDS41903.1	.	.	.	.	.	.	.	.	.	.	G	12.19	1.864221	0.32977	.	.	ENSG00000184564	ENST00000400286	T	0.03689	3.84	5.71	5.71	0.89125	.	0.082967	0.49305	U	0.000143	T	0.14442	0.0349	M	0.77820	2.39	0.51012	D	0.999906	P	0.46512	0.879	P	0.51742	0.678	T	0.00033	-1.2269	10	0.56958	D	0.05	-9.5954	18.427	0.90612	0.0:0.0:1.0:0.0	.	452	Q9H5Y7	SLIK6_HUMAN	Q	452	ENSP00000383143:P452Q	ENSP00000383143:P452Q	P	-	2	0	SLITRK6	85267290	1.000000	0.71417	0.798000	0.32154	0.259000	0.26198	9.869000	0.99810	2.699000	0.92147	0.655000	0.94253	CCA		0.358	SLITRK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045404.2	NM_032229		5	38	1	0	0.000602214	0.000602	0.00064368	5	38				
SLITRK5	26050	broad.mit.edu	37	13	88328530	88328530	+	Missense_Mutation	SNP	C	C	T	rs533532510		TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr13:88328530C>T	ENST00000325089.6	+	2	1106	c.887C>T	c.(886-888)cCg>cTg	p.P296L	SLITRK5_ENST00000400028.3_Missense_Mutation_p.P55L	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	296					adult behavior (GO:0030534)|axonogenesis (GO:0007409)|cardiovascular system development (GO:0072358)|dendrite morphogenesis (GO:0048813)|grooming behavior (GO:0007625)|response to xenobiotic stimulus (GO:0009410)|skin development (GO:0043588)|striatum development (GO:0021756)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					GAGATGAGGCCGCAGACGCCT	0.532													C|||	1	0.000199681	0.0008	0.0	5008	,	,		17981	0.0		0.0	False		,,,				2504	0.0						uc001vln.2		NA																	0				ovary(2)|pancreas(2)|central_nervous_system(1)	5						c.(886-888)CCG>CTG		SLIT and NTRK-like family, member 5 precursor							67.0	73.0	71.0					13																	88328530		2203	4300	6503	SO:0001583	missense	26050					integral to membrane		g.chr13:88328530C>T	AB020725	CCDS9465.1	13q31.1	2004-04-16	2004-01-08		ENSG00000165300	ENSG00000165300			20295	protein-coding gene	gene with protein product		609680	"""leucine rich repeat containing 11"""	LRRC11		10048485, 14557068	Standard	NM_015567		Approved	bA364G4.2, KIAA0918	uc001vln.3	O94991	OTTHUMG00000017167	ENST00000325089.6:c.887C>T	13.37:g.88328530C>T	ENSP00000366283:p.Pro296Leu					SLITRK5_uc010tic.1_Missense_Mutation_p.P55L	p.P296L	NM_015567	NP_056382	O94991	SLIK5_HUMAN			2	1106	+	all_neural(89;0.101)|Medulloblastoma(90;0.163)		296			Extracellular (Potential).		B3KNB8|B4DSH5|Q5VT81	Missense_Mutation	SNP	ENST00000325089.6	37	c.887C>T	CCDS9465.1	.	.	.	.	.	.	.	.	.	.	C	14.80	2.642373	0.47153	.	.	ENSG00000165300	ENST00000325089;ENST00000400028	T;T	0.60299	0.2;0.2	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.46946	0.1419	L	0.36672	1.1	0.80722	D	1	B;B	0.30741	0.293;0.045	B;B	0.21360	0.034;0.015	T	0.36089	-0.9762	9	.	.	.	-11.4526	17.464	0.87627	0.0:1.0:0.0:0.0	.	55;296	B4DSH5;O94991	.;SLIK5_HUMAN	L	296;55	ENSP00000366283:P296L;ENSP00000442244:P55L	.	P	+	2	0	SLITRK5	87126531	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.864000	0.62990	2.724000	0.93272	0.491000	0.48974	CCG		0.532	SLITRK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045416.3			30	41	0	0	0	0.00623	0	30	41				
ITGBL1	9358	broad.mit.edu	37	13	102250501	102250501	+	Splice_Site	SNP	A	A	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr13:102250501A>T	ENST00000376180.3	+	7	1087		c.e7-1		ITGBL1_ENST00000545560.2_Splice_Site|ITGBL1_ENST00000376162.3_Splice_Site	NM_001271756.1|NM_004791.1	NP_001258685.1|NP_004782.1	O95965	ITGBL_HUMAN	integrin, beta-like 1 (with EGF-like repeat domains)						cell adhesion (GO:0007155)	extracellular region (GO:0005576)				breast(1)|large_intestine(6)|lung(16)|ovary(1)|prostate(4)|skin(3)	31	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					CTCACTGTGAAGGTCATGGAC	0.423																																							uc001vpb.2		NA																	0				ovary(1)|skin(1)	2						c.e7-2		integrin, beta-like 1 (with EGF-like repeat							132.0	115.0	121.0					13																	102250501		2203	4300	6503	SO:0001630	splice_region_variant	9358				cell-matrix adhesion|integrin-mediated signaling pathway	extracellular region|integrin complex	binding|receptor activity	g.chr13:102250501A>T	AF072752	CCDS9499.1, CCDS61361.1, CCDS61362.1, CCDS73594.1	13q33	2008-07-18			ENSG00000198542	ENSG00000198542			6164	protein-coding gene	gene with protein product	"""ten integrin EGF-like repeat domains protein"", ""ITGBL1, integrin beta-like 1"""	604234				10051402	Standard	NM_004791		Approved	TIED, OSCP	uc001vpb.4	O95965	OTTHUMG00000017296	ENST00000376180.3:c.869-1A>T	13.37:g.102250501A>T						ITGBL1_uc010agb.2_Splice_Site_p.G241_splice|ITGBL1_uc001vpc.3_Splice_Site_p.G149_splice	p.G290_splice	NM_004791	NP_004782	O95965	ITGBL_HUMAN			7	1088	+	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)							A8K5M5|B3KTP1|B4DQ02|Q8N172|Q9NPR0	Splice_Site	SNP	ENST00000376180.3	37	c.869_splice	CCDS9499.1	.	.	.	.	.	.	.	.	.	.	A	16.20	3.056322	0.55325	.	.	ENSG00000198542	ENST00000376180;ENST00000537118;ENST00000539955;ENST00000545560;ENST00000376162	.	.	.	5.42	5.42	0.78866	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.4567	0.75321	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ITGBL1	101048502	1.000000	0.71417	0.971000	0.41717	0.744000	0.42396	8.850000	0.92190	2.045000	0.60652	0.533000	0.62120	.		0.423	ITGBL1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045669.2	NM_004791	Intron	36	74	0	0	0	0.00361	0	36	74				
OR4L1	122742	broad.mit.edu	37	14	20528637	20528637	+	Missense_Mutation	SNP	C	C	T	rs371358020		TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr14:20528637C>T	ENST00000315683.1	+	1	434	c.434C>T	c.(433-435)gCg>gTg	p.A145V		NM_001004717.1	NP_001004717.1	Q8NH43	OR4L1_HUMAN	olfactory receptor, family 4, subfamily L, member 1	145						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(4)|lung(16)|ovary(2)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		AAGGGGTTTGCGATACTTTCA	0.388																																							uc001vwn.1		NA																	0				ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5						c.(433-435)GCG>GTG		olfactory receptor, family 4, subfamily L,		C	VAL/ALA	0,4406		0,0,2203	136.0	128.0	130.0		434	3.2	0.3	14		130	1,8599		0,1,4299	no	missense	OR4L1	NM_001004717.1	64	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	145/313	20528637	1,13005	2203	4300	6503	SO:0001583	missense	122742				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20528637C>T		CCDS32029.1	14q11.2	2013-09-23			ENSG00000176246	ENSG00000176246		"""GPCR / Class A : Olfactory receptors"""	15356	protein-coding gene	gene with protein product				OR4L2P			Standard	NM_001004717		Approved		uc001vwn.1	Q8NH43	OTTHUMG00000169492	ENST00000315683.1:c.434C>T	14.37:g.20528637C>T	ENSP00000319217:p.Ala145Val						p.A145V	NM_001004717	NP_001004717	Q8NH43	OR4L1_HUMAN	Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)	1	434	+	all_cancers(95;0.00108)		145			Helical; Name=4; (Potential).		Q6IEZ5	Missense_Mutation	SNP	ENST00000315683.1	37	c.434C>T	CCDS32029.1	.	.	.	.	.	.	.	.	.	.	.	0.007	-2.010295	0.00426	0.0	1.16E-4	ENSG00000176246	ENST00000315683	T	0.34472	1.36	4.37	3.22	0.36961	GPCR, rhodopsin-like superfamily (1);	0.775582	0.11258	N	0.582901	T	0.09468	0.0233	N	0.00507	-1.42	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.27468	-1.0073	10	0.02654	T	1	.	8.4376	0.32797	0.0:0.0954:0.0:0.9046	.	145	Q8NH43	OR4L1_HUMAN	V	145	ENSP00000319217:A145V	ENSP00000319217:A145V	A	+	2	0	OR4L1	19598477	0.006000	0.16342	0.272000	0.24630	0.112000	0.19704	0.565000	0.23578	0.809000	0.34255	-0.295000	0.09555	GCG		0.388	OR4L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404381.1			30	47	0	0	0	0.002836	0	30	47				
RNASE10	338879	broad.mit.edu	37	14	20979113	20979113	+	Silent	SNP	C	C	G			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr14:20979113C>G	ENST00000328444.5	+	1	502	c.483C>G	c.(481-483)ctC>ctG	p.L161L	RNASE10_ENST00000430083.1_Silent_p.L189L	NM_001012975.1	NP_001012993.1	Q5GAN6	RNS10_HUMAN	ribonuclease, RNase A family, 10 (non-active)	161					epithelial cell morphogenesis (GO:0003382)|heterotypic cell-cell adhesion (GO:0034113)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of sperm motility (GO:1902093)|regulation of fertilization (GO:0080154)|seminiferous tubule development (GO:0072520)|single fertilization (GO:0007338)	extracellular region (GO:0005576)	nucleic acid binding (GO:0003676)			endometrium(1)|large_intestine(2)|lung(8)|urinary_tract(1)	12	all_cancers(95;0.00123)		Epithelial(56;1.81e-07)|all cancers(55;1.86e-06)	GBM - Glioblastoma multiforme(265;0.022)|READ - Rectum adenocarcinoma(17;0.191)		CCTGTGAGCTCAAGGGGGGAA	0.478																																							uc010tlj.1		NA																	0					0						c.(481-483)CTC>CTG		ribonuclease, RNase A family, 10 (non-active)							103.0	83.0	90.0					14																	20979113		2203	4300	6503	SO:0001819	synonymous_variant	338879					extracellular region	nucleic acid binding|pancreatic ribonuclease activity	g.chr14:20979113C>G		CCDS32035.1	14q11.1	2004-11-16				ENSG00000182545		"""Ribonucleases, RNase A"""	19275	protein-coding gene	gene with protein product						12920233	Standard	XM_005267584		Approved	RNASE9	uc010tlj.2	Q5GAN6		ENST00000328444.5:c.483C>G	14.37:g.20979113C>G						RNASE10_uc001vxp.2_Silent_p.L189L	p.L161L	NM_001012975	NP_001012993	Q5GAN6	RNS10_HUMAN	Epithelial(56;1.81e-07)|all cancers(55;1.86e-06)	GBM - Glioblastoma multiforme(265;0.022)|READ - Rectum adenocarcinoma(17;0.191)	1	483	+	all_cancers(95;0.00123)		161					A2RUQ3|B4DKY4	Silent	SNP	ENST00000328444.5	37	c.483C>G	CCDS32035.1																																																																																				0.478	RNASE10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411088.1	XM_292225		12	40	0	0	0	0.003163	0	12	40				
SALL2	6297	broad.mit.edu	37	14	21991583	21991583	+	Missense_Mutation	SNP	T	T	C			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr14:21991583T>C	ENST00000327430.3	-	2	2573	c.2279A>G	c.(2278-2280)gAg>gGg	p.E760G	SALL2_ENST00000538754.1_Intron|AE000658.22_ENST00000535893.1_RNA|SALL2_ENST00000317492.5_Intron|SALL2_ENST00000450879.2_Missense_Mutation_p.E623G	NM_005407.1	NP_005398.1	Q9Y467	SALL2_HUMAN	spalt-like transcription factor 2	760					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(6)|urinary_tract(2)	43	all_cancers(95;0.000662)			GBM - Glioblastoma multiforme(265;0.0151)		AGACAACTCCTCTTCCGGTGA	0.577																																							uc001wbe.2		NA																	0				ovary(2)|large_intestine(1)	3						c.(2278-2280)GAG>GGG		sal-like 2							54.0	52.0	53.0					14																	21991583		2203	4300	6503	SO:0001583	missense	6297						DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr14:21991583T>C	AB002358	CCDS32045.1	14q11.1-q12.1	2013-10-17	2013-10-17		ENSG00000165821	ENSG00000165821		"""Zinc fingers, C2H2-type"""	10526	protein-coding gene	gene with protein product		602219	"""sal (Drosophila)-like 2"", ""sal-like 2 (Drosophila)"""			8975705	Standard	XM_005267983		Approved	KIAA0360, Hsal2, ZNF795	uc001wbe.3	Q9Y467	OTTHUMG00000168826	ENST00000327430.3:c.2279A>G	14.37:g.21991583T>C	ENSP00000333537:p.Glu760Gly					SALL2_uc010tly.1_Missense_Mutation_p.E758G|SALL2_uc010tlz.1_Missense_Mutation_p.E623G|SALL2_uc001wbf.3_Intron|SALL2_uc010tma.1_Missense_Mutation_p.E625G|SALL2_uc001wbg.1_Intron	p.E760G	NM_005407	NP_005398	Q9Y467	SALL2_HUMAN		GBM - Glioblastoma multiforme(265;0.0151)	2	2561	-	all_cancers(95;0.000662)		760					B2RMX6|B9EGK8|Q8N656|Q9Y4G1	Missense_Mutation	SNP	ENST00000327430.3	37	c.2279A>G	CCDS32045.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	17.85|17.85	3.490873|3.490873	0.64074|0.64074	.|.	.|.	ENSG00000165821|ENSG00000165821	ENST00000327430;ENST00000450879|ENST00000546363	T;T|.	0.04706|.	3.6;3.57|.	4.76|4.76	4.76|4.76	0.60689|0.60689	.|.	0.000000|.	0.33895|.	N|.	0.004445|.	T|T	0.38134|0.38134	0.1029|0.1029	L|L	0.27053|0.27053	0.805|0.805	0.33391|0.33391	D|D	0.576094|0.576094	D;D;P;P|.	0.53151|.	0.958;0.958;0.808;0.808|.	P;P;B;B|.	0.47705|.	0.555;0.555;0.304;0.304|.	T|T	0.49818|0.49818	-0.8899|-0.8899	10|5	0.49607|.	T|.	0.09|.	-6.3057|-6.3057	8.5507|8.5507	0.33449|0.33449	0.0:0.0:0.1954:0.8046|0.0:0.0:0.1954:0.8046	.|.	623;623;521;760|.	B4DK65;E7EW59;B4DFD9;Q9Y467|.	.;.;.;SALL2_HUMAN|.	G|G	760;623|619	ENSP00000333537:E760G;ENSP00000396773:E623G|.	ENSP00000333537:E760G|.	E|R	-|-	2|1	0|2	SALL2|SALL2	21061423|21061423	0.995000|0.995000	0.38212|0.38212	0.998000|0.998000	0.56505|0.56505	0.963000|0.963000	0.63663|0.63663	2.933000|2.933000	0.48948|0.48948	1.997000|1.997000	0.58415|0.58415	0.460000|0.460000	0.39030|0.39030	GAG|AGG		0.577	SALL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401242.1	NM_005407		20	23	0	0	0	0.00278	0	20	23				
DCAF11	80344	broad.mit.edu	37	14	24588398	24588398	+	Nonsense_Mutation	SNP	C	C	G			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr14:24588398C>G	ENST00000446197.3	+	9	1551	c.824C>G	c.(823-825)tCa>tGa	p.S275*	DCAF11_ENST00000396941.4_Nonsense_Mutation_p.S249*|RP11-468E2.6_ENST00000558325.1_5'Flank|DCAF11_ENST00000396936.1_Nonsense_Mutation_p.S175*|DCAF11_ENST00000559115.1_Nonsense_Mutation_p.S275*	NM_025230.4	NP_079506.3	Q8TEB1	DCA11_HUMAN	DDB1 and CUL4 associated factor 11	275					protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)											GCTGTCTCCTCAGATGGACGA	0.478																																							uc001wlv.2		NA																	0					0						c.(823-825)TCA>TGA		DDB1 and CUL4 associated factor 11 isoform 1							175.0	165.0	168.0					14																	24588398		2203	4300	6503	SO:0001587	stop_gained	80344					CUL4 RING ubiquitin ligase complex	protein binding	g.chr14:24588398C>G	AF130070	CCDS9610.1, CCDS41929.1	14q11.2	2013-01-09	2009-07-17	2009-07-17	ENSG00000100897	ENSG00000100897		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	20258	protein-coding gene	gene with protein product		613317	"""WD repeat domain 23"""	WDR23			Standard	NM_025230		Approved	PRO2389, GL014	uc001wlv.3	Q8TEB1	OTTHUMG00000028793	ENST00000446197.3:c.824C>G	14.37:g.24588398C>G	ENSP00000415556:p.Ser275*					DCAF11_uc001wlw.2_Nonsense_Mutation_p.S275*|DCAF11_uc001wlz.2_Nonsense_Mutation_p.S175*|DCAF11_uc001wly.2_Nonsense_Mutation_p.S231*|DCAF11_uc001wme.2_Nonsense_Mutation_p.S235*|DCAF11_uc010tny.1_Nonsense_Mutation_p.S142*|DCAF11_uc001wmd.2_Nonsense_Mutation_p.S275*|DCAF11_uc001wmc.2_Nonsense_Mutation_p.S175*|DCAF11_uc001wmb.3_Nonsense_Mutation_p.S249*|DCAF11_uc001wma.3_Nonsense_Mutation_p.S275*	p.S275*	NM_001163484	NP_001156956	Q8TEB1	DCA11_HUMAN			9	1104	+			275			WD 3.		B3KQ83|D3DS56|Q5D039|Q86U00|Q86U39|Q8NDN2|Q9H2J0|Q9H3A3|Q9H5C9	Nonsense_Mutation	SNP	ENST00000446197.3	37	c.824C>G	CCDS9610.1	.	.	.	.	.	.	.	.	.	.	c	41	8.838060	0.98972	.	.	ENSG00000100897	ENST00000326009;ENST00000446197;ENST00000396936;ENST00000396941	.	.	.	5.53	5.53	0.82687	.	0.059287	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-0.3884	17.0059	0.86393	0.0:1.0:0.0:0.0	.	.	.	.	X	275;249;175;249	.	ENSP00000323680:S275X	S	+	2	0	DCAF11	23658238	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.568000	0.60857	2.885000	0.99019	0.643000	0.83706	TCA		0.478	DCAF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071907.4			24	116	0	0	0	0.007291	0	24	116				
AKAP6	9472	broad.mit.edu	37	14	33015208	33015208	+	Missense_Mutation	SNP	C	C	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr14:33015208C>T	ENST00000280979.4	+	4	1519	c.1349C>T	c.(1348-1350)tCt>tTt	p.S450F	AKAP6_ENST00000557354.1_Missense_Mutation_p.S450F|AKAP6_ENST00000557272.1_Missense_Mutation_p.S450F	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	450					action potential (GO:0001508)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to cytokine stimulus (GO:0071345)|negative regulation of cAMP biosynthetic process (GO:0030818)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|positive regulation of cell growth (GO:0030307)|positive regulation of cell growth involved in cardiac muscle cell development (GO:0061051)|positive regulation of delayed rectifier potassium channel activity (GO:1902261)|positive regulation of NFAT protein import into nucleus (GO:0051533)|positive regulation of potassium ion transmembrane transport (GO:1901381)|positive regulation of protein phosphatase type 2B activity (GO:0032514)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|protein targeting (GO:0006605)|regulation of membrane repolarization (GO:0060306)|regulation of protein kinase A signaling (GO:0010738)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)	calcium channel complex (GO:0034704)|caveola (GO:0005901)|cytoplasm (GO:0005737)|intercalated disc (GO:0014704)|junctional sarcoplasmic reticulum membrane (GO:0014701)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)	adenylate cyclase binding (GO:0008179)|ion channel binding (GO:0044325)|protein anchor (GO:0043495)|protein complex scaffold (GO:0032947)|protein kinase A binding (GO:0051018)|protein kinase A regulatory subunit binding (GO:0034237)			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		AACAGCCCTTCTGCTGCCAGC	0.468																																					Melanoma(49;821 1200 7288 13647 42351)	Melanoma(49;821 1200 7288 13647 42351)	uc001wrq.2		NA																	0				breast(6)|ovary(5)|lung(4)|skin(3)|large_intestine(2)|pancreas(1)	21						c.(1348-1350)TCT>TTT		A-kinase anchor protein 6							172.0	189.0	184.0					14																	33015208		2203	4300	6503	SO:0001583	missense	9472				protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding	g.chr14:33015208C>T	AB002309	CCDS9644.1	14q12	2008-08-11			ENSG00000151320	ENSG00000151320		"""A-kinase anchor proteins"""	376	protein-coding gene	gene with protein product	"""protein kinase A anchoring protein 6"""	604691				7721854, 9205841	Standard	NM_004274		Approved	KIAA0311, mAKAP, AKAP100, PRKA6, ADAP6	uc001wrq.3	Q13023	OTTHUMG00000140207	ENST00000280979.4:c.1349C>T	14.37:g.33015208C>T	ENSP00000280979:p.Ser450Phe					AKAP6_uc010aml.2_Missense_Mutation_p.S447F	p.S450F	NM_004274	NP_004265	Q13023	AKAP6_HUMAN	LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)	4	1519	+	Breast(36;0.0388)|Prostate(35;0.15)		450					A7E242|A7E2D4|O15028	Missense_Mutation	SNP	ENST00000280979.4	37	c.1349C>T	CCDS9644.1	.	.	.	.	.	.	.	.	.	.	C	16.66	3.185266	0.57909	.	.	ENSG00000151320	ENST00000280979;ENST00000557354;ENST00000557272;ENST00000553547	T;T;T;T	0.61392	0.11;0.11;0.11;0.11	5.81	5.81	0.92471	.	0.317188	0.31507	N	0.007529	T	0.64450	0.2599	L	0.60455	1.87	0.25148	N	0.990442	P;P	0.50710	0.771;0.938	B;P	0.48524	0.424;0.58	T	0.63229	-0.6684	10	0.87932	D	0	-5.0228	18.2598	0.90031	0.0:1.0:0.0:0.0	.	450;450	A7E242;Q13023	.;AKAP6_HUMAN	F	450;450;450;208	ENSP00000280979:S450F;ENSP00000450531:S450F;ENSP00000451247:S450F;ENSP00000451239:S208F	ENSP00000280979:S450F	S	+	2	0	AKAP6	32084959	0.887000	0.30362	0.370000	0.25965	0.955000	0.61496	4.710000	0.61873	2.735000	0.93741	0.650000	0.86243	TCT		0.468	AKAP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276617.2	NM_004274		40	211	0	0	0	0.00361	0	40	211				
SEC23A	10484	broad.mit.edu	37	14	39512034	39512034	+	Missense_Mutation	SNP	G	G	C			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr14:39512034G>C	ENST00000307712.6	-	17	2459	c.1942C>G	c.(1942-1944)Ctt>Gtt	p.L648V	SEC23A_ENST00000537403.1_Missense_Mutation_p.L446V|SEC23A_ENST00000545328.2_Missense_Mutation_p.L619V|SEC23A_ENST00000536508.1_Missense_Mutation_p.L546V	NM_006364.2	NP_006355.2	Q15436	SC23A_HUMAN	Sec23 homolog A (S. cerevisiae)	648					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)|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)|vesicle-mediated transport (GO:0016192)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|perinuclear region of cytoplasm (GO:0048471)	zinc ion binding (GO:0008270)			kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(1)	23	Hepatocellular(127;0.213)		Lung(238;0.00047)|LUAD - Lung adenocarcinoma(48;0.000565)	GBM - Glioblastoma multiforme(112;0.0151)		TCCATGAGAAGAATACGATCT	0.328																																							uc001wup.1		NA																	0				ovary(4)|upper_aerodigestive_tract(1)	5						c.(1942-1944)CTT>GTT		SEC23-related protein A							103.0	109.0	107.0					14																	39512034		2203	4300	6503	SO:0001583	missense	10484				COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|Golgi membrane|smooth endoplasmic reticulum membrane	protein binding|zinc ion binding	g.chr14:39512034G>C	X97064	CCDS9668.1	14q21.1	2008-05-14	2001-11-28		ENSG00000100934	ENSG00000100934			10701	protein-coding gene	gene with protein product		610511	"""Sec23 (S. cerevisiae) homolog A"""			8898360, 10329445	Standard	NM_006364		Approved		uc001wup.1	Q15436	OTTHUMG00000028812	ENST00000307712.6:c.1942C>G	14.37:g.39512034G>C	ENSP00000306881:p.Leu648Val					SEC23A_uc010tqa.1_Missense_Mutation_p.L534V|SEC23A_uc010tqb.1_Missense_Mutation_p.L619V	p.L648V	NM_006364	NP_006355	Q15436	SC23A_HUMAN	Lung(238;0.00047)|LUAD - Lung adenocarcinoma(48;0.000565)	GBM - Glioblastoma multiforme(112;0.0151)	17	2165	-	Hepatocellular(127;0.213)		648					B2R5P4|B3KXI2|Q8NE16	Missense_Mutation	SNP	ENST00000307712.6	37	c.1942C>G	CCDS9668.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.411504	0.83340	.	.	ENSG00000100934	ENST00000537403;ENST00000307712;ENST00000536508;ENST00000545328	T;T;T;T	0.57907	0.37;0.37;0.37;0.37	5.44	5.44	0.79542	Gelsolin domain (1);	0.000000	0.85682	D	0.000000	T	0.78375	0.4273	M	0.93720	3.45	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.998;0.999	T	0.82762	-0.0297	10	0.62326	D	0.03	-19.3062	12.914	0.58195	0.0747:0.0:0.9253:0.0	.	619;546;648	F5H365;F5H6C4;Q15436	.;.;SC23A_HUMAN	V	446;648;546;619	ENSP00000444193:L446V;ENSP00000306881:L648V;ENSP00000437715:L546V;ENSP00000445393:L619V	ENSP00000306881:L648V	L	-	1	0	SEC23A	38581785	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	6.747000	0.74872	2.709000	0.92574	0.655000	0.94253	CTT		0.328	SEC23A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276728.2			5	107	0	0	0	0.000602	0	5	107				
LRFN5	145581	broad.mit.edu	37	14	42360560	42360560	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr14:42360560C>A	ENST00000298119.4	+	4	2682	c.1493C>A	c.(1492-1494)aCt>aAt	p.T498N	LRFN5_ENST00000554171.1_Intron|LRFN5_ENST00000554120.1_Intron	NM_152447.3	NP_689660.2	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	498	Fibronectin type-III.					integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		ACTTCCCTCACTGCCACAAGA	0.453										HNSCC(30;0.082)																													uc001wvm.2		NA																	0				ovary(5)|pancreas(2)|central_nervous_system(1)	8						c.(1492-1494)ACT>AAT		leucine rich repeat and fibronectin type III							216.0	187.0	197.0					14																	42360560		2203	4300	6503	SO:0001583	missense	145581					integral to membrane		g.chr14:42360560C>A	AK055365	CCDS9678.1	14q21.1	2013-02-11	2004-02-02	2004-02-04	ENSG00000165379	ENSG00000165379		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	20360	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 8"""	612811	"""chromosome 14 open reading frame 146"""	C14orf146		16828986	Standard	NM_152447		Approved	FIGLER8, SALM5	uc001wvm.3	Q96NI6	OTTHUMG00000140261	ENST00000298119.4:c.1493C>A	14.37:g.42360560C>A	ENSP00000298119:p.Thr498Asn	HNSCC(30;0.082)				LRFN5_uc010ana.2_Intron	p.T498N	NM_152447	NP_689660	Q96NI6	LRFN5_HUMAN	LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)	4	2691	+			498			Extracellular (Potential).|Fibronectin type-III.		B3KU78|Q86XL2	Missense_Mutation	SNP	ENST00000298119.4	37	c.1493C>A	CCDS9678.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.152400	0.78001	.	.	ENSG00000165379	ENST00000298119	T	0.53206	0.63	5.68	5.68	0.88126	Fibronectin, type III (1);Immunoglobulin-like fold (1);	0.000000	0.56097	D	0.000028	T	0.69351	0.3101	M	0.75615	2.305	0.80722	D	1	D	0.71674	0.998	D	0.75484	0.986	T	0.70332	-0.4901	10	0.54805	T	0.06	.	17.2912	0.87157	0.0:1.0:0.0:0.0	.	498	Q96NI6	LRFN5_HUMAN	N	498	ENSP00000298119:T498N	ENSP00000298119:T498N	T	+	2	0	LRFN5	41430310	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.673000	0.90976	0.650000	0.86243	ACT		0.453	LRFN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276786.1	NM_152447		47	184	1	0	1.54886e-18	0.00361	2.18574e-18	47	184				
LRFN5	145581	broad.mit.edu	37	14	42360851	42360851	+	Missense_Mutation	SNP	G	G	C			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr14:42360851G>C	ENST00000298119.4	+	4	2973	c.1784G>C	c.(1783-1785)gGa>gCa	p.G595A	LRFN5_ENST00000554171.1_Intron|LRFN5_ENST00000554120.1_Intron	NM_152447.3	NP_689660.2	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	595						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		CAAGCTGTGGGACACGAAGAG	0.473										HNSCC(30;0.082)																													uc001wvm.2		NA																	0				ovary(5)|pancreas(2)|central_nervous_system(1)	8						c.(1783-1785)GGA>GCA		leucine rich repeat and fibronectin type III							129.0	106.0	114.0					14																	42360851		2203	4300	6503	SO:0001583	missense	145581					integral to membrane		g.chr14:42360851G>C	AK055365	CCDS9678.1	14q21.1	2013-02-11	2004-02-02	2004-02-04	ENSG00000165379	ENSG00000165379		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	20360	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 8"""	612811	"""chromosome 14 open reading frame 146"""	C14orf146		16828986	Standard	NM_152447		Approved	FIGLER8, SALM5	uc001wvm.3	Q96NI6	OTTHUMG00000140261	ENST00000298119.4:c.1784G>C	14.37:g.42360851G>C	ENSP00000298119:p.Gly595Ala	HNSCC(30;0.082)				LRFN5_uc010ana.2_Intron	p.G595A	NM_152447	NP_689660	Q96NI6	LRFN5_HUMAN	LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)	4	2982	+			595			Cytoplasmic (Potential).		B3KU78|Q86XL2	Missense_Mutation	SNP	ENST00000298119.4	37	c.1784G>C	CCDS9678.1	.	.	.	.	.	.	.	.	.	.	G	7.938	0.742239	0.15642	.	.	ENSG00000165379	ENST00000298119	T	0.44083	0.93	5.95	5.04	0.67666	.	0.000000	0.56097	D	0.000034	T	0.21186	0.0510	N	0.08118	0	0.80722	D	1	B	0.12013	0.005	B	0.11329	0.006	T	0.10989	-1.0606	10	0.02654	T	1	.	14.199	0.65690	0.0:0.0:0.8494:0.1506	.	595	Q96NI6	LRFN5_HUMAN	A	595	ENSP00000298119:G595A	ENSP00000298119:G595A	G	+	2	0	LRFN5	41430601	1.000000	0.71417	0.927000	0.36925	0.670000	0.39368	5.452000	0.66638	1.480000	0.48289	0.650000	0.86243	GGA		0.473	LRFN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276786.1	NM_152447		22	33	0	0	0	0.007291	0	22	33				
FSCB	84075	broad.mit.edu	37	14	44975043	44975043	+	Missense_Mutation	SNP	T	T	C			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr14:44975043T>C	ENST00000340446.4	-	1	1439	c.1148A>G	c.(1147-1149)gAa>gGa	p.E383G	RP11-163M18.1_ENST00000557465.1_RNA|RP11-163M18.1_ENST00000555433.1_RNA	NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	383	Pro-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)		AGACCGAATTTCACCAAGAAG	0.527																																							uc001wvn.2		NA																	0				lung(3)|breast(3)|ovary(2)|central_nervous_system(1)	9						c.(1147-1149)GAA>GGA		fibrous sheath CABYR binding protein							85.0	97.0	93.0					14																	44975043		2203	4300	6503	SO:0001583	missense	84075					cilium		g.chr14:44975043T>C	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.1148A>G	14.37:g.44975043T>C	ENSP00000344579:p.Glu383Gly						p.E383G	NM_032135	NP_115511	Q5H9T9	FSCB_HUMAN		GBM - Glioblastoma multiforme(112;0.128)	1	1457	-			383			Pro-rich.		Q5H9U7|Q86YI2|Q9H0J3	Missense_Mutation	SNP	ENST00000340446.4	37	c.1148A>G	CCDS9679.1	.	.	.	.	.	.	.	.	.	.	t	8.656	0.899444	0.17686	.	.	ENSG00000189139	ENST00000340446;ENST00000537803	T	0.15487	2.42	4.15	2.97	0.34412	.	.	.	.	.	T	0.24928	0.0605	L	0.38175	1.15	0.09310	N	1	D	0.67145	0.996	P	0.60286	0.872	T	0.05886	-1.0858	9	0.62326	D	0.03	.	7.8194	0.29280	0.0:0.0:0.2117:0.7883	.	383	Q5H9T9	FSCB_HUMAN	G	383	ENSP00000344579:E383G	ENSP00000344579:E383G	E	-	2	0	FSCB	44044793	0.065000	0.20965	0.015000	0.15790	0.018000	0.09664	2.251000	0.43187	0.731000	0.32448	0.529000	0.55759	GAA		0.527	FSCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276788.1	NM_032135		38	67	0	0	0	0.00361	0	38	67				
NID2	22795	broad.mit.edu	37	14	52508850	52508850	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr14:52508850C>A	ENST00000216286.5	-	7	1797	c.1798G>T	c.(1798-1800)Ggc>Tgc	p.G600C	NID2_ENST00000541773.1_Missense_Mutation_p.G547C	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN	nidogen 2 (osteonidogen)	600	Nidogen G2 beta-barrel. {ECO:0000255|PROSITE-ProRule:PRU00348}.				basement membrane organization (GO:0071711)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|cell surface (GO:0009986)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)			NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					TTCTCAGAGCCAGGTTTTTCT	0.587																																							uc001wzo.2		NA																	0				pancreas(2)|breast(2)|ovary(1)|liver(1)|skin(1)	7						c.(1798-1800)GGC>TGC		nidogen 2 precursor							82.0	90.0	87.0					14																	52508850		2203	4300	6503	SO:0001583	missense	22795					basement membrane	calcium ion binding|collagen binding	g.chr14:52508850C>A	AB009799	CCDS9706.1	14q22.1	2008-05-14			ENSG00000087303	ENSG00000087303			13389	protein-coding gene	gene with protein product		605399				9733643	Standard	NM_007361		Approved		uc001wzo.3	Q14112	OTTHUMG00000140298	ENST00000216286.5:c.1798G>T	14.37:g.52508850C>A	ENSP00000216286:p.Gly600Cys					NID2_uc010tqs.1_Missense_Mutation_p.G600C|NID2_uc010tqt.1_Missense_Mutation_p.G600C|NID2_uc001wzp.2_Missense_Mutation_p.G600C	p.G600C	NM_007361	NP_031387	Q14112	NID2_HUMAN			7	2032	-	Breast(41;0.0639)|all_epithelial(31;0.123)		600			Nidogen G2 beta-barrel.		A8K6I7|B4DU19|O43710	Missense_Mutation	SNP	ENST00000216286.5	37	c.1798G>T	CCDS9706.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.256643	0.80246	.	.	ENSG00000087303	ENST00000216286;ENST00000316204;ENST00000541773;ENST00000395707	T;T	0.25749	1.78;1.78	5.93	5.93	0.95920	G2 nidogen/fibulin G2F (3);Green fluorescent protein-like (1);	0.091506	0.85682	D	0.000000	T	0.59183	0.2175	M	0.84846	2.72	0.44079	D	0.996833	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.994;0.996;0.999;0.999	T	0.62709	-0.6797	10	0.87932	D	0	.	19.949	0.97192	0.0:1.0:0.0:0.0	.	194;547;602;600	E7EPP3;Q14112-2;Q5CZI2;Q14112	.;.;.;NID2_HUMAN	C	600;194;547;602	ENSP00000216286:G600C;ENSP00000443730:G547C	ENSP00000216286:G600C	G	-	1	0	NID2	51578600	0.994000	0.37717	0.997000	0.53966	0.897000	0.52465	2.779000	0.47734	2.826000	0.97356	0.655000	0.94253	GGC		0.587	NID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276888.1			20	61	1	0	3.51602e-12	0.008871	4.52508e-12	20	61				
FERMT2	10979	broad.mit.edu	37	14	53385933	53385933	+	Missense_Mutation	SNP	C	C	A	rs141887548		TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr14:53385933C>A	ENST00000395631.2	-	3	515	c.299G>T	c.(298-300)cGc>cTc	p.R100L	FERMT2_ENST00000399304.3_Missense_Mutation_p.R100L|FERMT2_ENST00000343279.4_Missense_Mutation_p.R100L|FERMT2_ENST00000553373.1_Missense_Mutation_p.R100L|FERMT2_ENST00000341590.3_Missense_Mutation_p.R100L			Q96AC1	FERM2_HUMAN	fermitin family member 2	100					cell junction assembly (GO:0034329)|cell-matrix adhesion (GO:0007160)|focal adhesion assembly (GO:0048041)|integrin activation (GO:0033622)|integrin-mediated signaling pathway (GO:0007229)|protein localization to membrane (GO:0072657)|regulation of cell shape (GO:0008360)|substrate adhesion-dependent cell spreading (GO:0034446)|transforming growth factor beta receptor signaling pathway (GO:0007179)|Wnt signaling pathway (GO:0016055)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|filamentous actin (GO:0031941)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|stress fiber (GO:0001725)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)		ERO1L/FERMT2(2)	NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	20	Breast(41;0.0342)					AAGCTGCAGGCGGAGCAGTTT	0.418																																							uc001xad.2		NA																	0					0						c.(298-300)CGC>CTC		fermitin family homolog 2 isoform 1							133.0	123.0	126.0					14																	53385933		2203	4300	6503	SO:0001583	missense	10979				actin cytoskeleton organization|cell adhesion|cell junction assembly|regulation of cell shape	cell cortex|cytosol|focal adhesion|stress fiber	binding	g.chr14:53385933C>A	Z24725	CCDS9713.1, CCDS45107.1, CCDS45108.1	14q22.1	2013-01-10	2010-06-24	2007-12-14	ENSG00000073712	ENSG00000073712		"""Fermitins"", ""Pleckstrin homology (PH) domain containing"""	15767	protein-coding gene	gene with protein product	"""kindlin-2"""	607746	"""pleckstrin homology domain containing, family C (with FERM domain) member 1"", ""fermitin family homolog 2 (Drosophila)"""	PLEKHC1		8175911, 12697302	Standard	NM_006832		Approved	mig-2, KIND2, UNC112B	uc001xac.3	Q96AC1	OTTHUMG00000140309	ENST00000395631.2:c.299G>T	14.37:g.53385933C>A	ENSP00000378993:p.Arg100Leu					FERMT2_uc001xac.2_Missense_Mutation_p.R100L|FERMT2_uc001xae.2_Missense_Mutation_p.R100L|FERMT2_uc001xaf.2_Missense_Mutation_p.R100L	p.R100L	NM_006832	NP_006823	Q96AC1	FERM2_HUMAN			3	354	-	Breast(41;0.0342)		100					B5TJY2|Q14840|Q86TY7	Missense_Mutation	SNP	ENST00000395631.2	37	c.299G>T	CCDS9713.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.127219	0.77549	.	.	ENSG00000073712	ENST00000395631;ENST00000341590;ENST00000554152;ENST00000343279;ENST00000553373;ENST00000399304;ENST00000555692;ENST00000554712	T;T;T;T;T;T;T;T	0.11277	2.79;2.79;2.79;2.79;2.79;2.79;2.79;2.79	5.71	5.71	0.89125	Band 4.1 domain (1);	0.000000	0.85682	D	0.000000	T	0.18467	0.0443	M	0.67700	2.07	0.80722	D	1	B;B;B	0.19331	0.012;0.007;0.035	B;B;B	0.21708	0.036;0.024;0.024	T	0.01692	-1.1294	10	0.52906	T	0.07	.	19.8557	0.96758	0.0:1.0:0.0:0.0	.	100;100;100	Q96AC1-2;Q96AC1;B5TJY2	.;FERM2_HUMAN;.	L	100;100;42;100;100;100;56;100	ENSP00000378993:R100L;ENSP00000340391:R100L;ENSP00000450741:R42L;ENSP00000342858:R100L;ENSP00000451084:R100L;ENSP00000382243:R100L;ENSP00000452472:R56L;ENSP00000450506:R100L	ENSP00000340391:R100L	R	-	2	0	FERMT2	52455683	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.818000	0.86416	2.706000	0.92434	0.650000	0.86243	CGC		0.418	FERMT2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276907.2	NM_006832		35	96	1	0	2.45108e-15	0.00874	3.3152e-15	35	96				
ACTN1	87	broad.mit.edu	37	14	69445737	69445737	+	Missense_Mutation	SNP	T	T	C			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr14:69445737T>C	ENST00000193403.6	-	1	420	c.37A>G	c.(37-39)Atg>Gtg	p.M13V	ACTN1-AS1_ENST00000553944.1_RNA|ACTN1_ENST00000438964.2_Missense_Mutation_p.M13V|ACTN1_ENST00000538545.2_Missense_Mutation_p.M13V|ACTN1-AS1_ENST00000553961.1_RNA|ACTN1_ENST00000376839.3_5'Flank|ACTN1_ENST00000394419.4_Missense_Mutation_p.M13V	NM_001102.3	NP_001093.1	P12814	ACTN1_HUMAN	actinin, alpha 1	13	Actin-binding.				actin crosslink formation (GO:0051764)|actin filament bundle assembly (GO:0051017)|blood coagulation (GO:0007596)|cell junction assembly (GO:0034329)|extracellular matrix organization (GO:0030198)|focal adhesion assembly (GO:0048041)|negative regulation of cellular component movement (GO:0051271)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of apoptotic process (GO:0042981)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|pseudopodium (GO:0031143)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|double-stranded RNA binding (GO:0003725)|integrin binding (GO:0005178)|ion channel binding (GO:0044325)|vinculin binding (GO:0017166)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(9)|prostate(2)|urinary_tract(1)	27				BRCA - Breast invasive adenocarcinoma(234;0.00605)|all cancers(60;0.00846)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)		TCTGGCTGCATGTAATCGTTG	0.607																																							uc001xkl.2		NA																	0				central_nervous_system(1)	1						c.(37-39)ATG>GTG		actinin, alpha 1 isoform b							161.0	125.0	137.0					14																	69445737		2203	4300	6503	SO:0001583	missense	87				focal adhesion assembly|negative regulation of cellular component movement|platelet activation|platelet degranulation|regulation of apoptosis	actin cytoskeleton|cytosol|extracellular region|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|sarcomere	actin binding|calcium ion binding|integrin binding|vinculin binding	g.chr14:69445737T>C	M95178	CCDS9792.1, CCDS45129.1, CCDS45130.1	14q24.1	2014-08-08			ENSG00000072110	ENSG00000072110		"""EF-hand domain containing"""	163	protein-coding gene	gene with protein product		102575				2349951	Standard	NM_001102		Approved		uc001xkm.3	P12814	OTTHUMG00000171386	ENST00000193403.6:c.37A>G	14.37:g.69445737T>C	ENSP00000193403:p.Met13Val					ACTN1_uc010ttb.1_5'Flank|ACTN1_uc001xkm.2_Missense_Mutation_p.M13V|ACTN1_uc001xkn.2_Missense_Mutation_p.M13V|ACTN1_uc001xko.1_5'Flank|ACTN1_uc010ttd.1_5'Flank	p.M13V	NM_001102	NP_001093	P12814	ACTN1_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00605)|all cancers(60;0.00846)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)	1	347	-			13			Actin-binding.		B3V8S3|B4DHH3|B7TY16|Q1HE25|Q9BTN1	Missense_Mutation	SNP	ENST00000193403.6	37	c.37A>G	CCDS9792.1	.	.	.	.	.	.	.	.	.	.	T	21.7	4.182646	0.78677	.	.	ENSG00000072110	ENST00000193403;ENST00000394419;ENST00000438964;ENST00000538545	T;T;T;T	0.58358	0.34;0.34;0.34;0.34	5.02	5.02	0.67125	Calponin homology domain (1);	0.101596	0.64402	D	0.000003	T	0.54415	0.1857	L	0.55481	1.735	0.58432	D	0.999999	B;B;B	0.34015	0.214;0.435;0.302	B;B;B	0.40864	0.204;0.342;0.103	T	0.58042	-0.7706	10	0.54805	T	0.06	.	13.7515	0.62910	0.0:0.0:0.0:1.0	.	13;13;13	P12814-2;Q1HE25;P12814	.;.;ACTN1_HUMAN	V	13	ENSP00000193403:M13V;ENSP00000377941:M13V;ENSP00000414272:M13V;ENSP00000439828:M13V	ENSP00000193403:M13V	M	-	1	0	ACTN1	68515490	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.794000	0.75135	1.898000	0.54952	0.379000	0.24179	ATG		0.607	ACTN1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000413233.3	NM_001102		30	50	0	0	0	0.004878	0	30	50				
SLC8A3	6547	broad.mit.edu	37	14	70634159	70634159	+	Missense_Mutation	SNP	G	G	C			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr14:70634159G>C	ENST00000381269.2	-	2	1734	c.981C>G	c.(979-981)caC>caG	p.H327Q	SLC8A3_ENST00000534137.1_Missense_Mutation_p.H327Q|SLC8A3_ENST00000528359.1_Missense_Mutation_p.H327Q|SLC8A3_ENST00000357887.3_Missense_Mutation_p.H327Q|SLC8A3_ENST00000356921.2_Missense_Mutation_p.H327Q	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	327					blood coagulation (GO:0007596)|calcium ion export from cell (GO:1990034)|calcium ion import into cell (GO:1990035)|calcium ion transport into cytosol (GO:0060402)|cell communication (GO:0007154)|cellular response to cAMP (GO:0071320)|hematopoietic progenitor cell differentiation (GO:0002244)|ion transport (GO:0006811)|telencephalon development (GO:0021537)|transmembrane transport (GO:0055085)	dendritic spine (GO:0043197)|integral component of membrane (GO:0016021)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	calcium:sodium antiporter activity (GO:0005432)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		CCTTCTCTGGGTGTTTTTGCT	0.512																																							uc001xly.2		NA																	0				skin(3)|ovary(2)|breast(2)	7						c.(979-981)CAC>CAG		solute carrier family 8 (sodium/calcium							94.0	97.0	96.0					14																	70634159		2203	4300	6503	SO:0001583	missense	6547				cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding	g.chr14:70634159G>C	AJ304852	CCDS9799.1, CCDS9800.1, CCDS35498.1, CCDS41967.1, CCDS45131.1, CCDS53904.1	14q24.1	2013-05-22	2008-09-02		ENSG00000100678	ENSG00000100678		"""Solute carriers"""	11070	protein-coding gene	gene with protein product		607991				8798769	Standard	XM_005268017		Approved	NCX3	uc001xly.3	P57103	OTTHUMG00000152342	ENST00000381269.2:c.981C>G	14.37:g.70634159G>C	ENSP00000370669:p.His327Gln					SLC8A3_uc001xlw.2_Missense_Mutation_p.H327Q|SLC8A3_uc001xlx.2_Missense_Mutation_p.H327Q|SLC8A3_uc001xlz.2_Missense_Mutation_p.H327Q|SLC8A3_uc010ara.2_RNA	p.H327Q	NM_183002	NP_892114	P57103	NAC3_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)	2	1735	-			327			Cytoplasmic (Potential).		Q5K3P6|Q5K3P7|Q8IUE9|Q8IUF0|Q8NFI7|Q96QG1|Q96QG2	Missense_Mutation	SNP	ENST00000381269.2	37	c.981C>G	CCDS35498.1	.	.	.	.	.	.	.	.	.	.	G	14.05	2.420964	0.42918	.	.	ENSG00000100678	ENST00000356921;ENST00000381269;ENST00000357887;ENST00000534137;ENST00000528359	T;T;T;T;T	0.37411	1.28;1.2;1.35;1.28;1.35	5.85	3.97	0.46021	.	0.050812	0.85682	D	0.000000	T	0.55847	0.1946	M	0.83384	2.64	0.80722	D	1	D;D;D;D	0.62365	0.983;0.972;0.983;0.991	P;P;P;P	0.60789	0.879;0.76;0.824;0.824	T	0.58624	-0.7604	10	0.87932	D	0	.	8.6917	0.34271	0.2373:0.0:0.7627:0.0	.	327;327;327;327	P57103-2;P57103;Q96QG2;Q96QG1	.;NAC3_HUMAN;.;.	Q	327	ENSP00000349392:H327Q;ENSP00000370669:H327Q;ENSP00000350560:H327Q;ENSP00000436688:H327Q;ENSP00000433531:H327Q	ENSP00000349392:H327Q	H	-	3	2	SLC8A3	69703912	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	1.866000	0.39489	0.746000	0.32786	0.655000	0.94253	CAC		0.512	SLC8A3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390736.1			25	42	0	0	0	0.00632	0	25	42				
ADAM20	8748	broad.mit.edu	37	14	70989767	70989767	+	Nonsense_Mutation	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr14:70989767C>A	ENST00000256389.3	-	2	2102	c.1858G>T	c.(1858-1860)Gga>Tga	p.G620*	RP11-486O13.4_ENST00000556646.1_lincRNA	NM_003814.4	NP_003805.3	O43506	ADA20_HUMAN	ADAM metallopeptidase domain 20	570	Cys-rich.				binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(2)	27			KIRC - Kidney renal clear cell carcinoma(12;0.133)|Kidney(31;0.188)	all cancers(60;0.00294)|BRCA - Breast invasive adenocarcinoma(234;0.00668)|OV - Ovarian serous cystadenocarcinoma(108;0.0344)		GGAATTACTCCCACATTTTCA	0.453																																							uc001xme.2		NA																	0				skin(1)	1						c.(1858-1860)GGA>TGA		ADAM metallopeptidase domain 20 preproprotein							172.0	105.0	128.0					14																	70989767		2203	4300	6503	SO:0001587	stop_gained	8748				proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding	g.chr14:70989767C>A	AF029899	CCDS32111.1	14q24.2	2012-04-30	2005-08-18		ENSG00000134007	ENSG00000134007		"""ADAM metallopeptidase domain containing"""	199	protein-coding gene	gene with protein product		603712	"""a disintegrin and metalloproteinase domain 20"""			9469942	Standard	NM_003814		Approved		uc001xme.3	O43506	OTTHUMG00000167548	ENST00000256389.3:c.1858G>T	14.37:g.70989767C>A	ENSP00000256389:p.Gly620*						p.G620*	NM_003814	NP_003805	O43506	ADA20_HUMAN	KIRC - Kidney renal clear cell carcinoma(12;0.133)|Kidney(31;0.188)	all cancers(60;0.00294)|BRCA - Breast invasive adenocarcinoma(234;0.00668)|OV - Ovarian serous cystadenocarcinoma(108;0.0344)	2	2103	-			570			Cys-rich.|Extracellular (Potential).		Q6GTZ1|Q9UKJ9	Nonsense_Mutation	SNP	ENST00000256389.3	37	c.1858G>T	CCDS32111.1	.	.	.	.	.	.	.	.	.	.	C	26.9	4.784304	0.90282	.	.	ENSG00000134007	ENST00000256389	.	.	.	4.66	-7.5	0.01351	.	4.291010	0.00819	N	0.001574	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.15066	T	0.55	.	7.2604	0.26199	0.0:0.2435:0.3015:0.455	.	.	.	.	X	620	.	ENSP00000256389:G620X	G	-	1	0	ADAM20	70059520	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-2.431000	0.01023	-1.762000	0.01308	-1.113000	0.02065	GGA		0.453	ADAM20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395004.2			18	43	1	0	1.15919e-05	0.008871	1.28955e-05	18	43				
FLVCR2	55640	broad.mit.edu	37	14	76107373	76107373	+	Silent	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr14:76107373C>A	ENST00000238667.4	+	7	1667	c.1311C>A	c.(1309-1311)atC>atA	p.I437I	FLVCR2_ENST00000539311.1_Silent_p.I232I|FLVCR2_ENST00000555027.1_Silent_p.I152I|FLVCR2_ENST00000556241.1_Intron|FLVCR2_ENST00000556856.1_Intron|FLVCR2_ENST00000553587.1_Intron	NM_017791.2	NP_060261.2	Q9UPI3	FLVC2_HUMAN	feline leukemia virus subgroup C cellular receptor family, member 2	437					heme transport (GO:0015886)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	heme binding (GO:0020037)|heme transporter activity (GO:0015232)			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	15				BRCA - Breast invasive adenocarcinoma(234;0.029)		CAGAAGGCATCTCCTCCGGCC	0.502																																							uc001xrs.2		NA																	0					0						c.(1309-1311)ATC>ATA		feline leukemia virus subgroup C cellular							137.0	120.0	126.0					14																	76107373		2203	4300	6503	SO:0001819	synonymous_variant	55640				transmembrane transport	integral to membrane|plasma membrane	heme binding|heme transporter activity	g.chr14:76107373C>A	AK000378	CCDS9844.1, CCDS55933.1	14q24.3	2013-05-22	2007-05-01	2007-05-01	ENSG00000119686	ENSG00000119686		"""Solute carriers"""	20105	protein-coding gene	gene with protein product		610865	"""chromosome 14 open reading frame 58"", ""feline leukemia virus subgroup C cellular receptor 2"""	C14orf58		16439531, 20206334	Standard	NM_017791		Approved	FLJ20371, MFSD7C	uc001xrs.2	Q9UPI3	OTTHUMG00000171487	ENST00000238667.4:c.1311C>A	14.37:g.76107373C>A						FLVCR2_uc010tvd.1_Silent_p.I232I	p.I437I	NM_017791	NP_060261	Q9UPI3	FLVC2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.029)	7	1687	+			437			Helical; (Potential).		B7Z485|Q53ZT9|Q96JY3|Q9NX90	Silent	SNP	ENST00000238667.4	37	c.1311C>A	CCDS9844.1																																																																																				0.502	FLVCR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413672.1	NM_017791		17	52	1	0	1.36565e-18	0.00278	1.92988e-18	17	52				
TRIP11	9321	broad.mit.edu	37	14	92471799	92471799	+	Missense_Mutation	SNP	T	T	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr14:92471799T>A	ENST00000267622.4	-	11	2894	c.2521A>T	c.(2521-2523)Aat>Tat	p.N841Y		NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	841					protein targeting to Golgi (GO:0000042)|regulation of RNA biosynthetic process (GO:2001141)|transcription from RNA polymerase II promoter (GO:0006366)|ventricular septum development (GO:0003281)	acrosomal membrane (GO:0002080)|cis-Golgi network (GO:0005801)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58				COAD - Colon adenocarcinoma(157;0.223)		AAAATTTCATTTTTTCTTAAG	0.333			T	PDGFRB	AML																																Ovarian(84;609 1888 9852 42686)	Ovarian(84;609 1888 9852 42686)	uc001xzy.2		NA		Dom	yes		14	14q31-q32	9321	T	thyroid hormone receptor interactor 11			L	PDGFRB		AML		0				ovary(6)|skin(2)|kidney(2)|central_nervous_system(1)|lung(1)|breast(1)	13						c.(2521-2523)AAT>TAT		thyroid hormone receptor interactor 11							66.0	67.0	67.0					14																	92471799		2203	4300	6503	SO:0001583	missense	9321				transcription from RNA polymerase II promoter	cytoskeleton|Golgi apparatus|membrane|nucleus	protein binding|transcription coactivator activity	g.chr14:92471799T>A	L40380	CCDS9899.1	14q31-q32	2008-05-02				ENSG00000100815			12305	protein-coding gene	gene with protein product		604505				7776974, 9373237	Standard	NM_004239		Approved	CEV14, Trip230, GMAP-210	uc001xzy.3	Q15643		ENST00000267622.4:c.2521A>T	14.37:g.92471799T>A	ENSP00000267622:p.Asn841Tyr					TRIP11_uc010auf.1_Missense_Mutation_p.N577Y	p.N841Y	NM_004239	NP_004230	Q15643	TRIPB_HUMAN		COAD - Colon adenocarcinoma(157;0.223)	11	3309	-			841			Potential.		B2RUT2|O14689|O15154|O95949	Missense_Mutation	SNP	ENST00000267622.4	37	c.2521A>T	CCDS9899.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	2.801|2.801	-0.249137|-0.249137	0.05867|0.05867	.|.	.|.	ENSG00000100815|ENSG00000100815	ENST00000554357|ENST00000267622;ENST00000542257	T|T	0.06068|0.04194	3.35|3.68	5.91|5.91	5.91|5.91	0.95273|0.95273	.|.	.|0.736265	.|0.14186	.|N	.|0.335684	T|T	0.08980|0.08980	0.0222|0.0222	L|L	0.56769|0.56769	1.78|1.78	0.09310|0.09310	N|N	0.999997|0.999997	.|P;P	.|0.47409	.|0.755;0.895	.|B;B	.|0.43889	.|0.179;0.435	T|T	0.24621|0.24621	-1.0155|-1.0155	6|10	.|0.59425	.|D	.|0.04	.|.	11.5286|11.5286	0.50595|0.50595	0.0:0.0:0.2616:0.7384|0.0:0.0:0.2616:0.7384	.|.	.|577;841	.|F5H1Z0;Q15643	.|.;TRIPB_HUMAN	I|Y	556|841;577	ENSP00000451032:K556I|ENSP00000267622:N841Y	.|ENSP00000267622:N841Y	K|N	-|-	2|1	0|0	TRIP11|TRIP11	91541552|91541552	1.000000|1.000000	0.71417|0.71417	0.287000|0.287000	0.24848|0.24848	0.849000|0.849000	0.48306|0.48306	3.627000|3.627000	0.54252|0.54252	2.263000|2.263000	0.75096|0.75096	0.377000|0.377000	0.23210|0.23210	AAA|AAT		0.333	TRIP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411823.1			11	19	0	0	0	0.001368	0	11	19				
BCL11B	64919	broad.mit.edu	37	14	99640725	99640725	+	Silent	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr14:99640725C>A	ENST00000357195.3	-	4	2457	c.2448G>T	c.(2446-2448)cgG>cgT	p.R816R	BCL11B_ENST00000443726.2_Silent_p.R622R|BCL11B_ENST00000345514.2_Silent_p.R745R	NM_001282237.1|NM_138576.2	NP_001269166.1|NP_612808.1	Q9C0K0	BC11B_HUMAN	B-cell CLL/lymphoma 11B (zinc finger protein)	816					alpha-beta T cell differentiation (GO:0046632)|epithelial cell morphogenesis (GO:0003382)|keratinocyte development (GO:0003334)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|odontogenesis of dentin-containing tooth (GO:0042475)|olfactory bulb axon guidance (GO:0071678)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive T cell selection (GO:0043368)|post-embryonic camera-type eye development (GO:0031077)|regulation of keratinocyte proliferation (GO:0010837)|regulation of lipid metabolic process (GO:0019216)|regulation of neuron differentiation (GO:0045664)|striatal medium spiny neuron differentiation (GO:0021773)|T cell differentiation in thymus (GO:0033077)|T cell receptor V(D)J recombination (GO:0033153)|thymus development (GO:0048538)	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 positive regulation of transcription (GO:0001077)			NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)		CGGTGTGGCTCCGCCGGTGCA	0.672			T	TLX3	T-ALL																																		uc001yga.2		NA		Dom	yes		14	14q32.1	64919	T	B-cell CLL/lymphoma 11B  (CTIP2)			L	TLX3		T-ALL		0				central_nervous_system(8)|large_intestine(1)|lung(1)	10						c.(2446-2448)CGG>CGT		B-cell CLL/lymphoma 11B isoform 1							39.0	33.0	35.0					14																	99640725		2203	4299	6502	SO:0001819	synonymous_variant	64919					nucleus	zinc ion binding	g.chr14:99640725C>A	AJ404614	CCDS9949.1, CCDS9950.1	14q32	2013-01-08			ENSG00000127152	ENSG00000127152		"""Zinc fingers, C2H2-type"""	13222	protein-coding gene	gene with protein product		606558		ZNF856B		11719382, 16950772	Standard	NM_138576		Approved	CTIP-2, CTIP2, hRIT1-alpha	uc001yga.3	Q9C0K0	OTTHUMG00000028967	ENST00000357195.3:c.2448G>T	14.37:g.99640725C>A						BCL11B_uc001ygb.2_Silent_p.R745R	p.R816R	NM_138576	NP_612808	Q9C0K0	BC11B_HUMAN		COAD - Colon adenocarcinoma(157;0.103)	4	2715	-		Melanoma(154;0.0866)|all_epithelial(191;0.241)	816			C2H2-type 4.		Q9H162	Silent	SNP	ENST00000357195.3	37	c.2448G>T	CCDS9950.1																																																																																				0.672	BCL11B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000072332.2	NM_138576		21	19	1	0	4.26978e-12	0.00333	5.46727e-12	21	19				
WARS	7453	broad.mit.edu	37	14	100801274	100801274	+	Missense_Mutation	SNP	C	C	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr14:100801274C>T	ENST00000355338.2	-	11	1972	c.1354G>A	c.(1354-1356)Gtc>Atc	p.V452I	RP11-638I2.8_ENST00000557226.1_RNA|WARS_ENST00000344102.5_Missense_Mutation_p.V411I|WARS_ENST00000392882.2_Missense_Mutation_p.V452I|WARS_ENST00000556645.1_Missense_Mutation_p.V411I|WARS_ENST00000358655.4_Missense_Mutation_p.V411I|WARS_ENST00000557135.1_Missense_Mutation_p.V452I	NM_173701.1	NP_776049.1	P23381	SYWC_HUMAN	tryptophanyl-tRNA synthetase	452					angiogenesis (GO:0001525)|gene expression (GO:0010467)|negative regulation of cell proliferation (GO:0008285)|regulation of angiogenesis (GO:0045765)|translation (GO:0006412)|tRNA aminoacylation for protein translation (GO:0006418)|tryptophanyl-tRNA aminoacylation (GO:0006436)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|tryptophan-tRNA ligase activity (GO:0004830)			breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	20		all_cancers(154;0.00223)|all_lung(585;2.48e-06)|all_epithelial(191;0.000564)|Melanoma(154;0.152)			L-Tryptophan(DB00150)	TCATCCGTGACCTCCTTGCGC	0.512																																							uc001yhf.1		NA																	0				breast(1)	1						c.(1354-1356)GTC>ATC		tryptophanyl-tRNA synthetase isoform a	L-Tryptophan(DB00150)						139.0	116.0	124.0					14																	100801274		2203	4300	6503	SO:0001583	missense	7453				angiogenesis|negative regulation of cell proliferation|regulation of angiogenesis|tryptophanyl-tRNA aminoacylation	cytosol|soluble fraction	ATP binding|protein binding|tryptophan-tRNA ligase activity	g.chr14:100801274C>T	M61715	CCDS9960.1, CCDS9961.1	14q32.2	2014-03-19			ENSG00000140105	ENSG00000140105	6.1.1.2	"""Aminoacyl tRNA synthetases / Class I"""	12729	protein-coding gene	gene with protein product	"""tryptophan tRNA ligase 1, cytoplasmic"""	191050		IFI53		1537332, 1763065	Standard	NM_004184		Approved	IFP53	uc001yhl.1	P23381	OTTHUMG00000171572	ENST00000355338.2:c.1354G>A	14.37:g.100801274C>T	ENSP00000347495:p.Val452Ile					WARS_uc001yhe.1_Missense_Mutation_p.V258I|WARS_uc001yhg.1_Missense_Mutation_p.V452I|WARS_uc001yhh.1_Missense_Mutation_p.V452I|WARS_uc001yhi.1_Missense_Mutation_p.V411I|WARS_uc001yhj.1_Missense_Mutation_p.V411I|WARS_uc001yhk.1_Missense_Mutation_p.V411I|WARS_uc001yhl.1_Missense_Mutation_p.V452I	p.V452I	NM_173701	NP_776049	P23381	SYWC_HUMAN			10	1438	-		all_cancers(154;0.00223)|all_lung(585;2.48e-06)|all_epithelial(191;0.000564)|Melanoma(154;0.152)	452					A6NGN1|A6NID3|P78535|Q502Y0|Q53XB6|Q9UDI5|Q9UDL3	Missense_Mutation	SNP	ENST00000355338.2	37	c.1354G>A	CCDS9960.1	.	.	.	.	.	.	.	.	.	.	C	13.79	2.343164	0.41498	.	.	ENSG00000140105	ENST00000392882;ENST00000358655;ENST00000355338;ENST00000344102;ENST00000557135;ENST00000556645	T;T;T;T;T;T	0.72167	-0.63;-0.63;-0.63;-0.63;-0.63;-0.63	5.22	4.33	0.51752	.	0.183746	0.46758	N	0.000265	T	0.53722	0.1814	N	0.17872	0.535	0.58432	D	0.999993	B	0.02656	0.0	B	0.13407	0.009	T	0.47548	-0.9109	10	0.28530	T	0.3	-3.1148	10.9727	0.47448	0.0:0.7995:0.0:0.2005	.	452	P23381	SYWC_HUMAN	I	452;411;452;411;452;411	ENSP00000376620:V452I;ENSP00000351481:V411I;ENSP00000347495:V452I;ENSP00000339485:V411I;ENSP00000451460:V452I;ENSP00000451887:V411I	ENSP00000339485:V411I	V	-	1	0	WARS	99871027	1.000000	0.71417	1.000000	0.80357	0.859000	0.49053	2.085000	0.41634	1.326000	0.45319	0.591000	0.81541	GTC		0.512	WARS-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414236.1	NM_004184		10	84	0	0	0	0.008291	0	10	84				
DLK1	8788	broad.mit.edu	37	14	101200499	101200499	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr14:101200499C>A	ENST00000341267.4	+	5	660	c.418C>A	c.(418-420)Cac>Aac	p.H140N	DLK1_ENST00000331224.6_Missense_Mutation_p.H140N	NM_003836.5	NP_003827	P80370	DLK1_HUMAN	delta-like 1 homolog (Drosophila)	140	EGF-like 4. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell differentiation (GO:0030154)|embryonic skeletal system development (GO:0048706)|multicellular organismal development (GO:0007275)|negative regulation of Notch signaling pathway (GO:0045746)|Notch signaling pathway (GO:0007219)|post-embryonic development (GO:0009791)|regulation of gene expression (GO:0010468)	external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(16)|ovary(2)|prostate(1)|skin(1)	29		Melanoma(154;0.155)				CCCCTGCCAGCACGGAGGCAC	0.647																																							uc001yhs.3		NA																	0				ovary(2)|breast(1)|skin(1)	4						c.(418-420)CAC>AAC		delta-like 1 homolog precursor							37.0	36.0	36.0					14																	101200499		2199	4291	6490	SO:0001583	missense	8788				multicellular organismal development	extracellular space|integral to membrane|soluble fraction		g.chr14:101200499C>A	U15979	CCDS9963.1	14q32	2011-12-05	2001-12-03			ENSG00000185559			2907	protein-coding gene	gene with protein product		176290	"""delta-like homolog (Drosophila)"""			8095043, 7925474	Standard	NM_003836		Approved	FA1, pG2, Pref-1, ZOG, Delta1	uc001yhs.4	P80370		ENST00000341267.4:c.418C>A	14.37:g.101200499C>A	ENSP00000340292:p.His140Asn					DLK1_uc001yhu.3_Missense_Mutation_p.H140N	p.H140N	NM_003836	NP_003827	P80370	DLK1_HUMAN			5	571	+		Melanoma(154;0.155)	140			Extracellular (Potential).|EGF-like 4.		P15803|Q96DW5	Missense_Mutation	SNP	ENST00000341267.4	37	c.418C>A	CCDS9963.1	.	.	.	.	.	.	.	.	.	.	C	4.346	0.063678	0.08388	.	.	ENSG00000185559	ENST00000341267;ENST00000331224	D;D	0.90620	-2.7;-2.7	4.1	1.74	0.24563	EGF (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.126462	0.50627	N	0.000106	T	0.78698	0.4324	N	0.00408	-1.53	0.80722	D	1	D;B	0.71674	0.998;0.438	D;B	0.79784	0.993;0.216	T	0.75033	-0.3460	10	0.02654	T	1	.	9.9903	0.41868	0.6338:0.3662:0.0:0.0	.	140;140	P80370-2;P80370	.;DLK1_HUMAN	N	140	ENSP00000340292:H140N;ENSP00000331081:H140N	ENSP00000331081:H140N	H	+	1	0	DLK1	100270252	1.000000	0.71417	1.000000	0.80357	0.868000	0.49771	4.580000	0.60942	0.798000	0.33994	-0.500000	0.04577	CAC		0.647	DLK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414389.1			9	36	1	0	4.68919e-08	0.008291	5.51444e-08	9	36				
DLK1	8788	broad.mit.edu	37	14	101201212	101201212	+	Silent	SNP	G	G	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr14:101201212G>A	ENST00000341267.4	+	5	1373	c.1131G>A	c.(1129-1131)gaG>gaA	p.E377E	DLK1_ENST00000331224.6_Silent_p.E304E|RP11-566J3.4_ENST00000608876.1_lincRNA	NM_003836.5	NP_003827	P80370	DLK1_HUMAN	delta-like 1 homolog (Drosophila)	377					cell differentiation (GO:0030154)|embryonic skeletal system development (GO:0048706)|multicellular organismal development (GO:0007275)|negative regulation of Notch signaling pathway (GO:0045746)|Notch signaling pathway (GO:0007219)|post-embryonic development (GO:0009791)|regulation of gene expression (GO:0010468)	external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(16)|ovary(2)|prostate(1)|skin(1)	29		Melanoma(154;0.155)				TCAGCAAGGAGGCCGGCGACG	0.547																																							uc001yhs.3		NA																	0				ovary(2)|breast(1)|skin(1)	4						c.(1129-1131)GAG>GAA		delta-like 1 homolog precursor							91.0	91.0	91.0					14																	101201212		2203	4300	6503	SO:0001819	synonymous_variant	8788				multicellular organismal development	extracellular space|integral to membrane|soluble fraction		g.chr14:101201212G>A	U15979	CCDS9963.1	14q32	2011-12-05	2001-12-03			ENSG00000185559			2907	protein-coding gene	gene with protein product		176290	"""delta-like homolog (Drosophila)"""			8095043, 7925474	Standard	NM_003836		Approved	FA1, pG2, Pref-1, ZOG, Delta1	uc001yhs.4	P80370		ENST00000341267.4:c.1131G>A	14.37:g.101201212G>A						DLK1_uc001yhu.3_Silent_p.E304E	p.E377E	NM_003836	NP_003827	P80370	DLK1_HUMAN			5	1284	+		Melanoma(154;0.155)	377			Cytoplasmic (Potential).		P15803|Q96DW5	Silent	SNP	ENST00000341267.4	37	c.1131G>A	CCDS9963.1																																																																																				0.547	DLK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414389.1			15	114	0	0	0	0.007413	0	15	114				
C14orf180	400258	broad.mit.edu	37	14	105054091	105054091	+	Missense_Mutation	SNP	C	C	G			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr14:105054091C>G	ENST00000557649.1	+	3	453	c.117C>G	c.(115-117)gaC>gaG	p.D39E	C14orf180_ENST00000331952.2_Missense_Mutation_p.D39E|C14orf180_ENST00000410013.1_Missense_Mutation_p.D39E|RP11-614O9.1_ENST00000556073.1_RNA			Q8N912	NRAC_HUMAN	chromosome 14 open reading frame 180	39						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)							Melanoma(154;0.226)	all cancers(16;0.00405)|OV - Ovarian serous cystadenocarcinoma(23;0.0319)|Epithelial(46;0.0784)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.127)		ACCAGGAGGACAACAGGAAGT	0.701																																							uc001yow.1		NA																	0					0						c.(115-117)GAC>GAG		hypothetical protein LOC400258							22.0	28.0	26.0					14																	105054091		2197	4299	6496	SO:0001583	missense	400258					integral to membrane		g.chr14:105054091C>G		CCDS32166.1, CCDS66722.1	14q32.33	2012-11-12	2012-11-12	2012-11-12	ENSG00000184601	ENSG00000184601			33795	protein-coding gene	gene with protein product	"""nutritionally-regulated adipose and cardiac-enriched"""		"""chromosome 14 open reading frame 77"""	C14orf77		23029450	Standard	XM_005267638		Approved	NRAC	uc001yow.1	Q8N912	OTTHUMG00000029806	ENST00000557649.1:c.117C>G	14.37:g.105054091C>G	ENSP00000452502:p.Asp39Glu					C14orf180_uc010tyh.1_Missense_Mutation_p.D39E|C14orf180_uc010awy.1_Missense_Mutation_p.D39E	p.D39E	NM_001008404	NP_001008404	Q8N912	CN180_HUMAN	all cancers(16;0.00405)|OV - Ovarian serous cystadenocarcinoma(23;0.0319)|Epithelial(46;0.0784)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.127)	3	418	+		Melanoma(154;0.226)	39						Missense_Mutation	SNP	ENST00000557649.1	37	c.117C>G	CCDS32166.1	.	.	.	.	.	.	.	.	.	.	C	1.365	-0.587634	0.03799	.	.	ENSG00000184601	ENST00000557649;ENST00000331952;ENST00000553873;ENST00000410013	.	.	.	3.08	-5.43	0.02632	.	.	.	.	.	T	0.16896	0.0406	L	0.27053	0.805	0.09310	N	1	P;P;P	0.51057	0.84;0.941;0.84	P;P;P	0.45474	0.482;0.482;0.482	T	0.06092	-1.0846	8	0.34782	T	0.22	-1.1241	1.2224	0.01927	0.155:0.2397:0.1539:0.4513	.	39;39;39	B4DN93;G3V2Z8;Q8N912	.;.;CN180_HUMAN	E	39	.	ENSP00000333041:D39E	D	+	3	2	C14orf180	104125136	0.000000	0.05858	0.000000	0.03702	0.042000	0.13812	-1.933000	0.01553	-1.216000	0.02607	-0.436000	0.05848	GAC		0.701	C14orf180-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410580.1	NM_001008404		3	15	0	0	0	0.004672	0	3	15				
CYFIP1	23191	broad.mit.edu	37	15	22963800	22963800	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr15:22963800G>T	ENST00000313077.7	+	21	2439	c.2314G>T	c.(2314-2316)Gtc>Ttc	p.V772F	CYFIP1_ENST00000435939.2_Missense_Mutation_p.V341F|CYFIP1_ENST00000560848.1_Missense_Mutation_p.V772F	NM_014608.2	NP_055423.1			cytoplasmic FMR1 interacting protein 1											endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	40		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)		CACCCAGCGCGTCTCAGCAGC	0.478																																							uc001yus.2		NA																	0				ovary(4)|pancreas(3)|liver(1)|skin(1)	9						c.(2314-2316)GTC>TTC		cytoplasmic FMR1 interacting protein 1 isoform							144.0	130.0	135.0					15																	22963800		2203	4300	6503	SO:0001583	missense	23191				axon extension|lamellipodium assembly|regulation of cell shape|ruffle organization	cell junction|lamellipodium|mRNA cap binding complex|perinuclear region of cytoplasm|ruffle|synapse|synaptosome	actin filament binding|Rac GTPase binding	g.chr15:22963800G>T	D38549	CCDS73695.1, CCDS73696.1	15q11	2008-07-18			ENSG00000068793	ENSG00000273749			13759	protein-coding gene	gene with protein product	"""selective hybridizing clone"", ""cytoplasmic FMRP interacting protein 1"""	606322				11438699	Standard	XM_005272543		Approved	KIAA0068, P140SRA-1, SHYC	uc001yus.3	Q7L576	OTTHUMG00000129100	ENST00000313077.7:c.2314G>T	15.37:g.22963800G>T	ENSP00000324549:p.Val772Phe					CYFIP1_uc001yut.2_Missense_Mutation_p.V772F|CYFIP1_uc010aya.1_Missense_Mutation_p.V800F|CYFIP1_uc001yuu.2_Missense_Mutation_p.V341F	p.V772F	NM_014608	NP_055423	Q7L576	CYFP1_HUMAN		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)	21	2418	+		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)	772						Missense_Mutation	SNP	ENST00000313077.7	37	c.2314G>T	CCDS10009.1	.	.	.	.	.	.	.	.	.	.	G	12.32	1.903463	0.33628	.	.	ENSG00000068793	ENST00000313077;ENST00000412127;ENST00000435939	T;T	0.25250	1.81;1.81	5.73	3.64	0.41730	.	0.093721	0.45867	D	0.000340	T	0.23727	0.0574	L	0.49350	1.555	0.54753	D	0.999985	P;D;B	0.61080	0.901;0.989;0.009	B;P;B	0.46917	0.445;0.531;0.047	T	0.02983	-1.1086	10	0.41790	T	0.15	-39.6087	4.3137	0.10982	0.4472:0.0:0.5528:0.0	.	800;341;772	E7EQ04;Q7L576-2;Q7L576	.;.;CYFP1_HUMAN	F	772;800;341	ENSP00000324549:V772F;ENSP00000405956:V341F	ENSP00000324549:V772F	V	+	1	0	CYFIP1	20515241	0.998000	0.40836	0.730000	0.30809	0.179000	0.23085	2.983000	0.49345	1.425000	0.47237	0.655000	0.94253	GTC		0.478	CYFIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251136.2	NM_014608		44	31	1	0	1.51926e-22	0.00361	2.23785e-22	44	31				
GABRB3	2562	broad.mit.edu	37	15	26806080	26806080	+	Splice_Site	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr15:26806080C>A	ENST00000311550.5	-	8	1190	c.1079G>T	c.(1078-1080)cGg>cTg	p.R360L	GABRB3_ENST00000400188.3_Splice_Site_p.R289L|GABRB3_ENST00000545868.1_Splice_Site_p.R275L|GABRB3_ENST00000541819.2_Splice_Site_p.R416L|GABRB3_ENST00000299267.4_Splice_Site_p.R360L	NM_000814.5|NM_001278631.1	NP_000805.1|NP_001265560.1	P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 3	360					cellular response to histamine (GO:0071420)|chloride transmembrane transport (GO:1902476)|cochlea development (GO:0090102)|inner ear receptor cell development (GO:0060119)|innervation (GO:0060384)|ion transmembrane transport (GO:0034220)|negative regulation of neuron apoptotic process (GO:0043524)|palate development (GO:0060021)|sensory perception of sound (GO:0007605)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|GABA-A receptor complex (GO:1902711)|integral component of plasma membrane (GO:0005887)|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)|GABA-gated chloride ion channel activity (GO:0022851)			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Fospropofol(DB06716)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ivermectin(DB00602)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Piperazine(DB00592)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	AGAGCCTACCCGGTTGCTTTC	0.478																																							uc001zaz.2		NA																	0				upper_aerodigestive_tract(1)|ovary(1)|lung(1)|liver(1)|central_nervous_system(1)	5						c.(1078-1080)CGG>CTG		gamma-aminobutyric acid (GABA) A receptor, beta	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)						244.0	268.0	260.0					15																	26806080		2203	4300	6503	SO:0001630	splice_region_variant	2562				synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr15:26806080C>A		CCDS10018.1, CCDS10019.1, CCDS53920.1, CCDS53921.1	15q12	2012-06-22			ENSG00000166206	ENSG00000166206		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4083	protein-coding gene	gene with protein product	"""GABA(A) receptor, beta 3"""	137192					Standard	NM_000814		Approved		uc001zaz.3	P28472	OTTHUMG00000129231	ENST00000311550.5:c.1080+1G>T	15.37:g.26806080C>A						GABRB3_uc010uae.1_Missense_Mutation_p.R275L|GABRB3_uc001zba.2_Missense_Mutation_p.R360L|GABRB3_uc001zbb.2_Missense_Mutation_p.R416L	p.R360L	NM_000814	NP_000805	P28472	GBRB3_HUMAN		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	8	1221	-		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)	360			Cytoplasmic (Probable).		B7Z2W1|B7Z825|F5H3D2|H7BYV8|Q14352|Q96FM5	Missense_Mutation	SNP	ENST00000311550.5	37	c.1079G>T	CCDS10019.1	.	.	.	.	.	.	.	.	.	.	C	13.81	2.347584	0.41599	.	.	ENSG00000166206	ENST00000311550;ENST00000541819;ENST00000299267;ENST00000400188;ENST00000545868	D;D;D;D;D	0.84370	-1.84;-1.84;-1.84;-1.84;-1.84	5.19	4.28	0.50868	Neurotransmitter-gated ion-channel transmembrane domain (2);	4.287140	0.00575	N	0.000306	D	0.84183	0.5416	N	0.21508	0.67	0.54753	D	0.999987	P;P;P	0.42123	0.736;0.771;0.513	B;B;P	0.48030	0.405;0.428;0.564	T	0.66324	-0.5952	10	0.24483	T	0.36	.	12.8655	0.57937	0.0:0.9217:0.0:0.0783	.	416;360;360	F5H7N0;P28472-2;P28472	.;.;GBRB3_HUMAN	L	360;416;360;289;275	ENSP00000308725:R360L;ENSP00000442408:R416L;ENSP00000299267:R360L;ENSP00000383049:R289L;ENSP00000439169:R275L	ENSP00000299267:R360L	R	-	2	0	GABRB3	24357173	1.000000	0.71417	0.987000	0.45799	0.468000	0.32798	2.046000	0.41260	1.192000	0.43071	0.655000	0.94253	CGG		0.478	GABRB3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251352.2		Missense_Mutation	47	76	1	0	6.56871e-35	0.00361	1.02757e-34	47	76				
TRPM1	4308	broad.mit.edu	37	15	31319284	31319284	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr15:31319284C>A	ENST00000256552.6	-	26	3477	c.3330G>T	c.(3328-3330)caG>caT	p.Q1110H	TRPM1_ENST00000397795.2_Missense_Mutation_p.Q1088H|RP11-348B17.1_ENST00000558755.1_RNA|TRPM1_ENST00000542188.1_Missense_Mutation_p.Q1127H|RP11-348B17.1_ENST00000561299.1_RNA	NM_001252024.1	NP_001238953.1			transient receptor potential cation channel, subfamily M, member 1											NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		ACTTCCACACCTGGTTGGATA	0.368																																							uc001zfm.2		NA																	0				ovary(2)|pancreas(1)|skin(1)	4						c.(3262-3264)CAG>CAT		transient receptor potential cation channel,							82.0	79.0	80.0					15																	31319284		1895	4127	6022	SO:0001583	missense	4308				cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity	g.chr15:31319284C>A	AF071787	CCDS10024.2, CCDS58345.1, CCDS58346.1, CCDS58347.1	15q13.3	2014-01-28		2002-01-18	ENSG00000134160	ENSG00000134160		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	7146	protein-coding gene	gene with protein product		603576	"""melastatin 1"""	MLSN1		9806836, 9537257, 16382100	Standard	NM_001252020		Approved	LTRPC1, CSNB1C	uc021sia.1	Q7Z4N2	OTTHUMG00000129267	ENST00000256552.6:c.3330G>T	15.37:g.31319284C>A	ENSP00000256552:p.Gln1110His					TRPM1_uc010azy.2_Missense_Mutation_p.Q995H|TRPM1_uc001zfl.2_RNA	p.Q1088H	NM_002420	NP_002411	Q7Z4N2	TRPM1_HUMAN		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)	25	3392	-		all_lung(180;1.92e-11)	1088			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000256552.6	37	c.3264G>T	CCDS58346.1	.	.	.	.	.	.	.	.	.	.	C	17.60	3.430276	0.62844	.	.	ENSG00000134160	ENST00000397795;ENST00000542188;ENST00000256552;ENST00000397793	T;T;T	0.42131	0.98;0.98;0.98	5.59	-0.72	0.11195	.	0.000000	0.85682	D	0.000000	T	0.46946	0.1419	M	0.82517	2.595	0.42748	D	0.993763	P;P	0.51791	0.948;0.863	P;P	0.45310	0.458;0.476	T	0.55673	-0.8104	10	0.72032	D	0.01	-22.8496	11.0471	0.47865	0.0:0.4785:0.0:0.5215	.	1082;1088	Q7Z4N2-3;Q7Z4N2	.;TRPM1_HUMAN	H	1088;1127;1110;1088	ENSP00000380897:Q1088H;ENSP00000437849:Q1127H;ENSP00000256552:Q1110H	ENSP00000256552:Q1110H	Q	-	3	2	TRPM1	29106576	0.997000	0.39634	0.992000	0.48379	0.995000	0.86356	0.445000	0.21677	-0.379000	0.07906	0.655000	0.94253	CAG		0.368	TRPM1-004	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417166.2	NM_002420		20	32	1	0	1.55469e-16	0.00333	2.14301e-16	20	32				
TRPM1	4308	broad.mit.edu	37	15	31354895	31354895	+	Nonsense_Mutation	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr15:31354895C>A	ENST00000256552.6	-	9	1123	c.976G>T	c.(976-978)Gag>Tag	p.E326*	TRPM1_ENST00000397795.2_Nonsense_Mutation_p.E304*|TRPM1_ENST00000542188.1_Nonsense_Mutation_p.E343*|MIR211_ENST00000384969.1_RNA	NM_001252024.1	NP_001238953.1			transient receptor potential cation channel, subfamily M, member 1											NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		CTGAGGGACTCATTTATTATT	0.333																																							uc001zfm.2		NA																	0				ovary(2)|pancreas(1)|skin(1)	4						c.(910-912)GAG>TAG		transient receptor potential cation channel,							91.0	80.0	83.0					15																	31354895		1817	4080	5897	SO:0001587	stop_gained	4308				cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity	g.chr15:31354895C>A	AF071787	CCDS10024.2, CCDS58345.1, CCDS58346.1, CCDS58347.1	15q13.3	2014-01-28		2002-01-18	ENSG00000134160	ENSG00000134160		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	7146	protein-coding gene	gene with protein product		603576	"""melastatin 1"""	MLSN1		9806836, 9537257, 16382100	Standard	NM_001252020		Approved	LTRPC1, CSNB1C	uc021sia.1	Q7Z4N2	OTTHUMG00000129267	ENST00000256552.6:c.976G>T	15.37:g.31354895C>A	ENSP00000256552:p.Glu326*					TRPM1_uc010azy.2_Nonsense_Mutation_p.E211*|TRPM1_uc001zfl.2_RNA	p.E304*	NM_002420	NP_002411	Q7Z4N2	TRPM1_HUMAN		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)	8	1038	-		all_lung(180;1.92e-11)	304			Extracellular (Potential).			Nonsense_Mutation	SNP	ENST00000256552.6	37	c.910G>T	CCDS58346.1	.	.	.	.	.	.	.	.	.	.	C	40	8.399855	0.98794	.	.	ENSG00000134160	ENST00000397795;ENST00000542188;ENST00000256552;ENST00000397793	.	.	.	5.72	5.72	0.89469	.	0.136143	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.38643	T	0.18	-26.8165	19.8968	0.96969	0.0:1.0:0.0:0.0	.	.	.	.	X	304;343;326;304	.	ENSP00000256552:E326X	E	-	1	0	TRPM1	29142187	1.000000	0.71417	0.976000	0.42696	0.994000	0.84299	7.441000	0.80485	2.691000	0.91804	0.655000	0.94253	GAG		0.333	TRPM1-004	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417166.2	NM_002420		17	13	1	0	4.63292e-17	0.008871	6.42118e-17	17	13				
ACTC1	70	broad.mit.edu	37	15	35085482	35085482	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr15:35085482C>A	ENST00000290378.4	-	3	1073	c.418G>T	c.(418-420)Gca>Tca	p.A140S	RP11-814P5.1_ENST00000503496.1_RNA|ACTC1_ENST00000557860.1_5'Flank	NM_005159.4	NP_005150.1	P68032	ACTC_HUMAN	actin, alpha, cardiac muscle 1	140					actin filament-based movement (GO:0030048)|actin-myosin filament sliding (GO:0033275)|actomyosin structure organization (GO:0031032)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cardiac muscle contraction (GO:0060048)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|heart contraction (GO:0060047)|muscle filament sliding (GO:0030049)|negative regulation of apoptotic process (GO:0043066)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|skeletal muscle thin filament assembly (GO:0030240)	actin filament (GO:0005884)|actomyosin, actin portion (GO:0042643)|blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|I band (GO:0031674)|membrane (GO:0016020)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|myosin binding (GO:0017022)			central_nervous_system(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	31		all_lung(180;2.3e-08)		all cancers(64;5.83e-19)|GBM - Glioblastoma multiforme(113;1.98e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0244)		GATAGCACTGCCTGGATGGCC	0.552																																							uc001ziu.1		NA																	0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(418-420)GCA>TCA		cardiac muscle alpha actin 1 proprotein							102.0	95.0	98.0					15																	35085482		2201	4298	6499	SO:0001583	missense	70				apoptosis|cardiac muscle tissue morphogenesis|cardiac myofibril assembly|muscle filament sliding|skeletal muscle thin filament assembly	actomyosin, actin part|cytosol|I band	ATP binding|ATPase activity|myosin binding	g.chr15:35085482C>A	BC009978	CCDS10041.1	15q14	2014-09-17	2006-08-24	2006-08-24	ENSG00000159251	ENSG00000159251			143	protein-coding gene	gene with protein product		102540	"""actin, alpha, cardiac muscle"""	ACTC		1639426	Standard	NM_005159		Approved	CMD1R	uc001ziu.1	P68032	OTTHUMG00000129675	ENST00000290378.4:c.418G>T	15.37:g.35085482C>A	ENSP00000290378:p.Ala140Ser					uc001zit.1_Intron	p.A140S	NM_005159	NP_005150	P68032	ACTC_HUMAN		all cancers(64;5.83e-19)|GBM - Glioblastoma multiforme(113;1.98e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0244)	3	661	-		all_lung(180;2.3e-08)	140					P04270	Missense_Mutation	SNP	ENST00000290378.4	37	c.418G>T	CCDS10041.1	.	.	.	.	.	.	.	.	.	.	C	26.7	4.766368	0.90020	.	.	ENSG00000159251	ENST00000290378;ENST00000544062	D	0.97455	-4.39	5.63	5.63	0.86233	.	0.000000	0.51477	U	0.000081	D	0.98905	0.9629	M	0.79258	2.445	0.80722	D	1	B	0.27853	0.191	D	0.68621	0.959	D	0.97598	1.0121	10	0.87932	D	0	.	20.0442	0.97604	0.0:1.0:0.0:0.0	.	140	P68032	ACTC_HUMAN	S	140;105	ENSP00000290378:A140S	ENSP00000290378:A140S	A	-	1	0	ACTC1	32872774	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	7.818000	0.86416	2.814000	0.96858	0.655000	0.94253	GCA		0.552	ACTC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251876.3	NM_005159		14	73	1	0	3.45872e-05	0.004007	3.80572e-05	14	73				
PLCB2	5330	broad.mit.edu	37	15	40582792	40582792	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr15:40582792C>A	ENST00000260402.3	-	29	3444	c.3195G>T	c.(3193-3195)aaG>aaT	p.K1065N	PLCB2_ENST00000456256.2_Missense_Mutation_p.K1050N|PLCB2_ENST00000557821.1_Missense_Mutation_p.K1061N	NM_001284297.1|NM_004573.2	NP_001271226.1|NP_004564.2	Q00722	PLCB2_HUMAN	phospholipase C, beta 2	1065					activation of phospholipase C activity (GO:0007202)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|phospholipid metabolic process (GO:0006644)|sensory perception of bitter taste (GO:0050913)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3)	39		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)		CCTGGGCCATCTTGTCTGTGG	0.567																																							uc001zld.2		NA																	0				ovary(3)|breast(3)|kidney(1)|pancreas(1)	8						c.(3193-3195)AAG>AAT		phospholipase C, beta 2							226.0	235.0	232.0					15																	40582792		2011	4171	6182	SO:0001583	missense	5330				activation of phospholipase C activity|intracellular signal transduction|lipid catabolic process|phospholipid metabolic process|synaptic transmission	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr15:40582792C>A		CCDS42020.1, CCDS61591.1, CCDS61592.1, CCDS73704.1	15q15.1	2012-01-23			ENSG00000137841	ENSG00000137841	3.1.4.11		9055	protein-coding gene	gene with protein product		604114				1644792, 9925923	Standard	XM_005254448		Approved	FLJ38135	uc001zld.3	Q00722	OTTHUMG00000172412	ENST00000260402.3:c.3195G>T	15.37:g.40582792C>A	ENSP00000260402:p.Lys1065Asn					PLCB2_uc001zlc.2_Missense_Mutation_p.K49N|PLCB2_uc010bbo.2_Missense_Mutation_p.K1061N|PLCB2_uc010ucm.1_Missense_Mutation_p.K1050N	p.K1065N	NM_004573	NP_004564	Q00722	PLCB2_HUMAN		GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)	29	3496	-		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)	1065			Potential.		A8K6J2|B9EGH5	Missense_Mutation	SNP	ENST00000260402.3	37	c.3195G>T	CCDS42020.1	.	.	.	.	.	.	.	.	.	.	C	17.61	3.431307	0.62844	.	.	ENSG00000137841	ENST00000260402;ENST00000456256	T;T	0.63913	-0.07;-0.07	4.3	4.3	0.51218	PLC-beta, C-terminal (1);	1.432170	0.04507	N	0.382235	T	0.74359	0.3706	L	0.43152	1.355	0.80722	D	1	D;D;P	0.76494	0.999;0.998;0.949	D;D;P	0.81914	0.995;0.938;0.687	T	0.63708	-0.6576	10	0.87932	D	0	.	9.6813	0.40072	0.0:0.9044:0.0:0.0956	.	1050;1061;1065	B9EGH5;Q00722-2;Q00722	.;.;PLCB2_HUMAN	N	1065;1050	ENSP00000260402:K1065N;ENSP00000411991:K1050N	ENSP00000260402:K1065N	K	-	3	2	PLCB2	38370084	1.000000	0.71417	1.000000	0.80357	0.858000	0.48976	1.176000	0.31957	2.190000	0.69967	0.561000	0.74099	AAG		0.567	PLCB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000418430.1			125	95	1	0	9.91784e-70	0.00361	1.62453e-69	125	95				
FRMD5	84978	broad.mit.edu	37	15	44175919	44175919	+	Missense_Mutation	SNP	G	G	C			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr15:44175919G>C	ENST00000417257.1	-	13	1293	c.1117C>G	c.(1117-1119)Cac>Gac	p.H373D	FRMD5_ENST00000402883.1_Missense_Mutation_p.H373D|FRMD5_ENST00000484674.1_Missense_Mutation_p.H279D	NM_032892.3	NP_116281.2	Q7Z6J6	FRMD5_HUMAN	FERM domain containing 5	373						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|integral component of membrane (GO:0016021)				breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	14		all_cancers(109;2.29e-15)|all_epithelial(112;9.98e-13)|Lung NSC(122;4.89e-08)|all_lung(180;5.08e-07)|Melanoma(134;0.0275)		all cancers(107;8.63e-20)|GBM - Glioblastoma multiforme(94;3.63e-06)		ATGGAGATGTGAACAGCTCTT	0.547																																							uc001ztl.2		NA																	0				ovary(1)	1						c.(1117-1119)CAC>GAC		FERM domain containing 5 isoform 2							142.0	118.0	126.0					15																	44175919		2198	4298	6496	SO:0001583	missense	84978					cytoplasm|cytoskeleton|extrinsic to membrane|integral to membrane	cytoskeletal protein binding	g.chr15:44175919G>C	BC007796	CCDS10107.2, CCDS73715.1, CCDS73716.1	15q15.3	2005-08-09			ENSG00000171877	ENSG00000171877			28214	protein-coding gene	gene with protein product							Standard	XM_005254729		Approved	MGC14161	uc001ztl.3	Q7Z6J6	OTTHUMG00000060475	ENST00000417257.1:c.1117C>G	15.37:g.44175919G>C	ENSP00000403067:p.His373Asp					FRMD5_uc001ztj.1_Missense_Mutation_p.H46D|FRMD5_uc001ztk.1_Missense_Mutation_p.H279D|FRMD5_uc010uef.1_Missense_Mutation_p.H46D|FRMD5_uc001ztm.2_Missense_Mutation_p.H46D|FRMD5_uc001ztn.2_Missense_Mutation_p.H139D	p.H373D	NM_032892	NP_116281	Q7Z6J6	FRMD5_HUMAN		all cancers(107;8.63e-20)|GBM - Glioblastoma multiforme(94;3.63e-06)	13	1294	-		all_cancers(109;2.29e-15)|all_epithelial(112;9.98e-13)|Lung NSC(122;4.89e-08)|all_lung(180;5.08e-07)|Melanoma(134;0.0275)	373					Q8NBG4	Missense_Mutation	SNP	ENST00000417257.1	37	c.1117C>G	CCDS10107.2	.	.	.	.	.	.	.	.	.	.	G	10.39	1.337243	0.24253	.	.	ENSG00000171877	ENST00000417257;ENST00000402883;ENST00000449926	D;D;D	0.84370	-1.61;-1.76;-1.84	5.54	5.54	0.83059	.	0.262521	0.42420	D	0.000720	D	0.82421	0.5033	L	0.50333	1.59	0.58432	D	0.999996	B;B;B;B	0.27416	0.082;0.049;0.051;0.178	B;B;B;B	0.31101	0.036;0.016;0.016;0.124	T	0.76767	-0.2838	10	0.15952	T	0.53	.	18.234	0.89944	0.0:0.0:1.0:0.0	.	358;373;373;46	Q7Z6J6-2;Q7Z6J6;B5MC67;A8K1U8	.;FRMD5_HUMAN;.;.	D	373;373;339	ENSP00000403067:H373D;ENSP00000384142:H373D;ENSP00000399684:H339D	ENSP00000384142:H373D	H	-	1	0	FRMD5	41963211	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.087000	0.94110	2.884000	0.98904	0.655000	0.94253	CAC		0.547	FRMD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133879.1	NM_032892		26	73	0	0	0	0.003755	0	26	73				
SEMA6D	80031	broad.mit.edu	37	15	48056403	48056403	+	Missense_Mutation	SNP	T	T	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr15:48056403T>A	ENST00000316364.5	+	11	1437	c.998T>A	c.(997-999)aTg>aAg	p.M333K	SEMA6D_ENST00000558816.1_Missense_Mutation_p.M333K|SEMA6D_ENST00000536845.2_Missense_Mutation_p.M333K|SEMA6D_ENST00000389433.2_Missense_Mutation_p.M333K|SEMA6D_ENST00000389428.3_Missense_Mutation_p.M333K|SEMA6D_ENST00000355997.3_Missense_Mutation_p.M333K|SEMA6D_ENST00000389432.2_Missense_Mutation_p.M333K|SEMA6D_ENST00000558014.1_Missense_Mutation_p.M333K|SEMA6D_ENST00000537942.1_Missense_Mutation_p.M333K|SEMA6D_ENST00000389425.3_Missense_Mutation_p.M333K|SEMA6D_ENST00000354744.4_Missense_Mutation_p.M333K|SEMA6D_ENST00000358066.4_Missense_Mutation_p.M333K	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D	333	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|negative regulation of smooth muscle cell migration (GO:0014912)|positive regulation of smooth muscle cell migration (GO:0014911)|ventricular system development (GO:0021591)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		GCATTTAGCATGGATGACATT	0.458																																							uc010bek.2		NA																	0				skin(3)|breast(1)	4						c.(997-999)ATG>AAG		semaphorin 6D isoform 4 precursor							123.0	113.0	116.0					15																	48056403		2198	4297	6495	SO:0001583	missense	80031				axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity	g.chr15:48056403T>A	AF389430	CCDS32224.1, CCDS32225.1, CCDS32226.1, CCDS32227.1, CCDS32228.1, CCDS32229.1	15q21.1	2006-09-18				ENSG00000137872		"""Semaphorins"""	16770	protein-coding gene	gene with protein product		609295				12110693, 14977921	Standard	NM_020858		Approved	KIAA1479, FLJ11598	uc001zvy.3	Q8NFY4		ENST00000316364.5:c.998T>A	15.37:g.48056403T>A	ENSP00000324857:p.Met333Lys					SEMA6D_uc001zvw.2_Missense_Mutation_p.M333K|SEMA6D_uc001zvx.1_Missense_Mutation_p.M333K|SEMA6D_uc001zvy.2_Missense_Mutation_p.M333K|SEMA6D_uc001zvz.2_Missense_Mutation_p.M333K|SEMA6D_uc001zwa.2_Missense_Mutation_p.M333K|SEMA6D_uc001zwb.2_Missense_Mutation_p.M333K|SEMA6D_uc001zwc.2_Missense_Mutation_p.M333K	p.M333K	NM_153618	NP_705871	Q8NFY4	SEM6D_HUMAN		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)	11	1358	+		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)	333			Sema.|Extracellular (Potential).		A6NF10|A6NM95|A6NNK1|A7E2A0|Q8NFY3|Q8NFY5|Q8NFY6|Q8NFY7|Q9P249	Missense_Mutation	SNP	ENST00000316364.5	37	c.998T>A	CCDS32225.1	.	.	.	.	.	.	.	.	.	.	T	29.8	5.039579	0.93630	.	.	ENSG00000137872	ENST00000537942;ENST00000536845;ENST00000316364;ENST00000389433;ENST00000389432;ENST00000354744;ENST00000358066;ENST00000389428;ENST00000355997;ENST00000389425	T;T;T;T;T;T;T;T;T;T	0.13657	2.57;2.57;2.57;2.57;2.57;2.57;2.57;2.57;2.57;2.57	6.08	6.08	0.98989	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.000000	0.85682	D	0.000000	T	0.47116	0.1428	M	0.90483	3.12	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.999;1.0;0.995;1.0	D;D;D;D;D	0.91635	0.98;0.986;0.98;0.971;0.999	T	0.56426	-0.7981	10	0.87932	D	0	.	16.6438	0.85155	0.0:0.0:0.0:1.0	.	333;333;333;333;333	Q8NFY4-3;A6NM95;Q8NFY4-4;Q8NFY4;Q8NFY4-2	.;.;.;SEM6D_HUMAN;.	K	333	ENSP00000442040:M333K;ENSP00000446152:M333K;ENSP00000324857:M333K;ENSP00000374084:M333K;ENSP00000374083:M333K;ENSP00000346786:M333K;ENSP00000350770:M333K;ENSP00000374079:M333K;ENSP00000348276:M333K;ENSP00000374076:M333K	ENSP00000324857:M333K	M	+	2	0	SEMA6D	45843695	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	8.023000	0.88764	2.333000	0.79357	0.533000	0.62120	ATG		0.458	SEMA6D-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416868.1	NM_024966		13	50	0	0	0	0.003163	0	13	50				
MYEF2	50804	broad.mit.edu	37	15	48459593	48459593	+	Missense_Mutation	SNP	C	C	G			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr15:48459593C>G	ENST00000324324.7	-	3	655	c.376G>C	c.(376-378)Gag>Cag	p.E126Q	MYEF2_ENST00000267836.6_Missense_Mutation_p.E126Q	NM_016132.3	NP_057216	Q9P2K5	MYEF2_HUMAN	myelin expression factor 2	126	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				myotube differentiation (GO:0014902)|neuron differentiation (GO:0030182)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31		all_lung(180;0.00217)		all cancers(107;3.73e-10)|GBM - Glioblastoma multiforme(94;7.81e-07)		TATGTAACCTCACCAACTACA	0.403																																							uc001zwi.3		NA																	0				lung(2)|ovary(1)	3						c.(376-378)GAG>CAG		myelin expression factor 2							155.0	137.0	143.0					15																	48459593		2198	4297	6495	SO:0001583	missense	50804				transcription, DNA-dependent	Golgi apparatus|nucleus	DNA binding|nucleotide binding|RNA binding	g.chr15:48459593C>G	AB037762	CCDS32230.1, CCDS73722.1	15q15.1	2013-07-16				ENSG00000104177		"""RNA binding motif (RRM) containing"""	17940	protein-coding gene	gene with protein product						10718198, 2601707	Standard	XM_005254422		Approved	MEF-2, FLJ11213, KIAA1341, HsT18564	uc001zwi.4	Q9P2K5		ENST00000324324.7:c.376G>C	15.37:g.48459593C>G	ENSP00000316950:p.Glu126Gln					MYEF2_uc001zwj.3_Missense_Mutation_p.E126Q|MYEF2_uc001zwl.2_Intron	p.E126Q	NM_016132	NP_057216	Q9P2K5	MYEF2_HUMAN		all cancers(107;3.73e-10)|GBM - Glioblastoma multiforme(94;7.81e-07)	3	500	-		all_lung(180;0.00217)	126			RRM 1.		A7MCZ9|C9J921|C9K0J4|Q6NUM5|Q7L388|Q7Z4B7|Q9H922|Q9NUQ1	Missense_Mutation	SNP	ENST00000324324.7	37	c.376G>C	CCDS32230.1	.	.	.	.	.	.	.	.	.	.	C	18.62	3.663744	0.67700	.	.	ENSG00000104177	ENST00000324324;ENST00000267836	T;T	0.76316	-1.01;-1.01	6.16	6.16	0.99307	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	D	0.86489	0.5945	L	0.52364	1.645	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.80764	0.99;0.994	D	0.85834	0.1393	10	0.72032	D	0.01	-12.299	20.8598	0.99761	0.0:1.0:0.0:0.0	.	126;126	Q9P2K5-2;Q9P2K5	.;MYEF2_HUMAN	Q	126	ENSP00000316950:E126Q;ENSP00000267836:E126Q	ENSP00000267836:E126Q	E	-	1	0	MYEF2	46246885	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.487000	0.81328	2.937000	0.99478	0.650000	0.86243	GAG		0.403	MYEF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000416909.2	NM_016132		3	56	0	0	0	0.001168	0	3	56				
ATP8B4	79895	broad.mit.edu	37	15	50168682	50168682	+	Silent	SNP	G	G	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr15:50168682G>T	ENST00000284509.6	-	25	2961	c.2820C>A	c.(2818-2820)ctC>ctA	p.L940L	ATP8B4_ENST00000559829.1_Silent_p.L940L	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4	940						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		CTGGTTTGTAGAGCTGGGGAC	0.428																																							uc001zxu.2		NA																	0				skin(3)|ovary(2)|breast(2)|large_intestine(1)	8						c.(2818-2820)CTC>CTA		ATPase class I type 8B member 4							102.0	100.0	101.0					15																	50168682		2196	4295	6491	SO:0001819	synonymous_variant	79895				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr15:50168682G>T	AB075819	CCDS32238.1	15q21.2	2010-04-20	2007-09-19		ENSG00000104043	ENSG00000104043		"""ATPases / P-type"""	13536	protein-coding gene	gene with protein product		609123	"""ATPase, Class I, type 8B, member 4"""			11015572	Standard	NM_024837		Approved	ATPIM, KIAA1939	uc001zxu.3	Q8TF62		ENST00000284509.6:c.2820C>A	15.37:g.50168682G>T						ATP8B4_uc010ber.2_Silent_p.L813L|ATP8B4_uc010ufd.1_Silent_p.L750L|ATP8B4_uc010ufe.1_RNA|ATP8B4_uc001zxt.2_5'UTR	p.L940L	NM_024837	NP_079113	Q8TF62	AT8B4_HUMAN		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)	25	2962	-		all_lung(180;0.00183)	940			Cytoplasmic (Potential).		Q9H727	Silent	SNP	ENST00000284509.6	37	c.2820C>A	CCDS32238.1																																																																																				0.428	ATP8B4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418100.1	NM_024837		28	76	1	0	1.22384e-17	0.002836	1.70795e-17	28	76				
AP4E1	23431	broad.mit.edu	37	15	51285706	51285706	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr15:51285706G>T	ENST00000261842.5	+	17	2336	c.2230G>T	c.(2230-2232)Gct>Tct	p.A744S	AP4E1_ENST00000560508.1_Missense_Mutation_p.A669S	NM_001252127.1|NM_007347.4	NP_001239056.1|NP_031373.2	Q9UPM8	AP4E1_HUMAN	adaptor-related protein complex 4, epsilon 1 subunit	744					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	coated pit (GO:0005905)|Golgi apparatus (GO:0005794)|membrane coat (GO:0030117)				breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(5)|skin(2)	27				all cancers(107;0.000893)|GBM - Glioblastoma multiforme(94;0.00364)		TGTAGATCAAGCTATAACTAA	0.408																																							uc001zyx.1		NA																	0					0						c.(2230-2232)GCT>TCT		adaptor-related protein complex 4, epsilon 1							106.0	93.0	97.0					15																	51285706		2196	4294	6490	SO:0001583	missense	23431				intracellular protein transport|vesicle-mediated transport	COPI vesicle coat	binding|structural molecule activity	g.chr15:51285706G>T	AB030653	CCDS32240.1, CCDS58362.1	15q21.2	2014-09-17			ENSG00000081014	ENSG00000081014			573	protein-coding gene	gene with protein product		607244				10436028, 21620353	Standard	NM_007347		Approved	AP-4-EPSILON, SPG51	uc001zyx.2	Q9UPM8	OTTHUMG00000172458	ENST00000261842.5:c.2230G>T	15.37:g.51285706G>T	ENSP00000261842:p.Ala744Ser						p.A744S	NM_007347	NP_031373	Q9UPM8	AP4E1_HUMAN		all cancers(107;0.000893)|GBM - Glioblastoma multiforme(94;0.00364)	17	2260	+			744					A0AVD6|A1L4A9|A6NNX7|H0YKX4|Q68D31|Q9Y588	Missense_Mutation	SNP	ENST00000261842.5	37	c.2230G>T	CCDS32240.1	.	.	.	.	.	.	.	.	.	.	G	9.180	1.023466	0.19433	.	.	ENSG00000081014	ENST00000261842	T	0.17691	2.26	5.29	0.416	0.16416	.	1.190190	0.05817	N	0.615046	T	0.09379	0.0231	N	0.14661	0.345	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.38672	-0.9650	10	0.20046	T	0.44	0.0408	5.2074	0.15299	0.529:0.2733:0.1976:0.0	.	744	Q9UPM8	AP4E1_HUMAN	S	744	ENSP00000261842:A744S	ENSP00000261842:A744S	A	+	1	0	AP4E1	49072998	0.000000	0.05858	0.012000	0.15200	0.970000	0.65996	-0.112000	0.10791	-0.172000	0.10779	0.563000	0.77884	GCT		0.408	AP4E1-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418656.1			4	32	1	0	0.00909568	0.009096	0.00941286	4	32				
RAB27A	5873	broad.mit.edu	37	15	55516109	55516109	+	Missense_Mutation	SNP	T	T	C			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr15:55516109T>C	ENST00000396307.2	-	5	696	c.445A>G	c.(445-447)Ata>Gta	p.I149V	RAB27A_ENST00000564609.1_Missense_Mutation_p.I149V|RAB27A_ENST00000336787.1_Missense_Mutation_p.I149V|RAB27A_ENST00000569493.1_Missense_Mutation_p.I149V	NM_004580.4	NP_004571.2	P51159	RB27A_HUMAN	RAB27A, member RAS oncogene family	149					antigen processing and presentation (GO:0019882)|blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|cytotoxic T cell degranulation (GO:0043316)|exocytosis (GO:0006887)|exosomal secretion (GO:1990182)|melanocyte differentiation (GO:0030318)|melanosome transport (GO:0032402)|multivesicular body organization (GO:0036257)|multivesicular body sorting pathway (GO:0071985)|natural killer cell degranulation (GO:0043320)|positive regulation of exocytosis (GO:0045921)|positive regulation of gene expression (GO:0010628)|protein targeting (GO:0006605)|small GTPase mediated signal transduction (GO:0007264)|synaptic vesicle transport (GO:0048489)	apical plasma membrane (GO:0016324)|dendrite (GO:0030425)|exocytic vesicle (GO:0070382)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|late endosome (GO:0005770)|lysosome (GO:0005764)|melanosome (GO:0042470)|multivesicular body membrane (GO:0032585)|photoreceptor outer segment (GO:0001750)|secretory granule membrane (GO:0030667)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(1)|large_intestine(2)|liver(1)|lung(3)|ovary(1)|skin(1)	9				all cancers(107;0.0273)|GBM - Glioblastoma multiforme(80;0.0993)		GCGAGTGCTATGGCTTCCTCC	0.398																																							uc002aco.2		NA																	0				ovary(1)	1						c.(445-447)ATA>GTA		Ras-related protein Rab-27A							180.0	183.0	182.0					15																	55516109		2193	4292	6485	SO:0001583	missense	5873				small GTPase mediated signal transduction	dendrite|exocytic vesicle|late endosome|lysosome|melanosome	GTP binding|GTPase activity	g.chr15:55516109T>C	U38654	CCDS10153.1	15q15-q21.1	2014-09-17			ENSG00000069974	ENSG00000069974		"""RAB, member RAS oncogene"""	9766	protein-coding gene	gene with protein product		603868				7592656	Standard	NM_183235		Approved	RAB27, RAM, GS2, HsT18676	uc002acq.3	P51159	OTTHUMG00000131959	ENST00000396307.2:c.445A>G	15.37:g.55516109T>C	ENSP00000379601:p.Ile149Val					RAB27A_uc002acr.2_Missense_Mutation_p.I149V|RAB27A_uc002acp.2_Missense_Mutation_p.I149V|RAB27A_uc002acq.2_Missense_Mutation_p.I149V	p.I149V	NM_183234	NP_899057	P51159	RB27A_HUMAN		all cancers(107;0.0273)|GBM - Glioblastoma multiforme(80;0.0993)	6	678	-			149					O00195|Q6FI40|Q9UIR9|Q9Y5U3	Missense_Mutation	SNP	ENST00000396307.2	37	c.445A>G	CCDS10153.1	.	.	.	.	.	.	.	.	.	.	T	7.166	0.586682	0.13749	.	.	ENSG00000069974	ENST00000396307;ENST00000336787	T;T	0.76316	-1.01;-1.01	5.73	1.97	0.26223	Small GTP-binding protein domain (1);	0.247086	0.45126	N	0.000389	T	0.62648	0.2445	N	0.20530	0.585	0.09310	N	1	B	0.06786	0.001	B	0.19946	0.027	T	0.54370	-0.8304	10	0.72032	D	0.01	-19.3408	9.4309	0.38608	0.0:0.0653:0.2236:0.7111	.	149	P51159	RB27A_HUMAN	V	149	ENSP00000379601:I149V;ENSP00000337761:I149V	ENSP00000337761:I149V	I	-	1	0	RAB27A	53303401	0.996000	0.38824	0.112000	0.21494	0.025000	0.11179	1.547000	0.36190	-0.171000	0.10797	-1.477000	0.00996	ATA		0.398	RAB27A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254918.1	NM_004580, NM_183236		72	189	0	0	0	0.00361	0	72	189				
PYGO1	26108	broad.mit.edu	37	15	55839204	55839204	+	Missense_Mutation	SNP	G	G	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr15:55839204G>A	ENST00000302000.6	-	3	371	c.277C>T	c.(277-279)Cct>Tct	p.P93S	PYGO1_ENST00000563719.1_Missense_Mutation_p.P93S	NM_015617.1	NP_056432.1	Q9Y3Y4	PYGO1_HUMAN	pygopus family PHD finger 1	93	Pro-rich.				hematopoietic progenitor cell differentiation (GO:0002244)|kidney development (GO:0001822)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|protein localization to nucleus (GO:0034504)|spermatid nucleus differentiation (GO:0007289)|Wnt signaling pathway (GO:0016055)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			endometrium(4)|kidney(2)|large_intestine(6)|lung(6)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	27				all cancers(107;0.0131)|GBM - Glioblastoma multiforme(80;0.18)		GGATAACCAGGGCCAAGATAT	0.438																																							uc010bfl.1		NA																	0				ovary(1)|skin(1)	2						c.(277-279)CCT>TCT		pygopus homolog 1							109.0	100.0	103.0					15																	55839204		2193	4292	6485	SO:0001583	missense	26108				Wnt receptor signaling pathway	nucleus	zinc ion binding	g.chr15:55839204G>A	AF457207	CCDS10155.1	15q21.1	2013-10-09	2013-10-09		ENSG00000171016	ENSG00000171016		"""Zinc fingers, PHD-type"""	30256	protein-coding gene	gene with protein product		606902	"""pygopus homolog 1 (Drosophila)"""			11988739	Standard	NM_015617		Approved		uc002adf.1	Q9Y3Y4	OTTHUMG00000132009	ENST00000302000.6:c.277C>T	15.37:g.55839204G>A	ENSP00000302327:p.Pro93Ser					PYGO1_uc002adf.1_Missense_Mutation_p.P93S	p.P93S	NM_015617	NP_056432	Q9Y3Y4	PYGO1_HUMAN		all cancers(107;0.0131)|GBM - Glioblastoma multiforme(80;0.18)	3	333	-			93			Pro-rich.		A7Y2D6	Missense_Mutation	SNP	ENST00000302000.6	37	c.277C>T	CCDS10155.1	.	.	.	.	.	.	.	.	.	.	G	8.652	0.898550	0.17686	.	.	ENSG00000171016	ENST00000302000;ENST00000401688	T	0.40756	1.02	5.23	5.23	0.72850	.	0.072828	0.64402	D	0.000014	T	0.23727	0.0574	N	0.14661	0.345	0.42507	D	0.992952	B;B	0.28324	0.207;0.207	B;B	0.30251	0.113;0.113	T	0.08391	-1.0724	10	0.07644	T	0.81	-12.4387	11.6231	0.51130	0.081:0.0:0.919:0.0	.	93;93	A7Y2D6;Q9Y3Y4	.;PYGO1_HUMAN	S	93	ENSP00000302327:P93S	ENSP00000302327:P93S	P	-	1	0	PYGO1	53626496	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.404000	0.59735	2.601000	0.87937	0.585000	0.79938	CCT		0.438	PYGO1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254977.2	NM_015617		23	120	0	0	0	0.009535	0	23	120				
NEDD4	4734	broad.mit.edu	37	15	56140574	56140574	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr15:56140574C>A	ENST00000508342.1	-	13	3094	c.2795G>T	c.(2794-2796)gGa>gTa	p.G932V	NEDD4_ENST00000338963.2_Missense_Mutation_p.G860V|NEDD4_ENST00000435532.3_Missense_Mutation_p.G513V|NEDD4_ENST00000506154.1_Missense_Mutation_p.G916V	NM_001284338.1	NP_001271267.1	P46934	NEDD4_HUMAN	neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase	932	Mediates interaction with TNIK. {ECO:0000250}.				adaptive immune response (GO:0002250)|blood vessel morphogenesis (GO:0048514)|cellular response to UV (GO:0034644)|cytokine-mediated signaling pathway (GO:0019221)|development involved in symbiotic interaction (GO:0044111)|endocardial cushion development (GO:0003197)|glucocorticoid receptor signaling pathway (GO:0042921)|lysosomal transport (GO:0007041)|negative regulation of sodium ion transport (GO:0010766)|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage (GO:0010768)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|neuromuscular junction development (GO:0007528)|neuron projection development (GO:0031175)|outflow tract morphogenesis (GO:0003151)|positive regulation of nucleocytoplasmic transport (GO:0046824)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein catabolic process (GO:0045732)|progesterone receptor signaling pathway (GO:0050847)|protein K63-linked ubiquitination (GO:0070534)|protein monoubiquitination (GO:0006513)|protein targeting to lysosome (GO:0006622)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|receptor catabolic process (GO:0032801)|receptor internalization (GO:0031623)|regulation of dendrite morphogenesis (GO:0048814)|regulation of ion transmembrane transport (GO:0034765)|regulation of membrane potential (GO:0042391)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|regulation of synapse organization (GO:0050807)|response to calcium ion (GO:0051592)|T cell activation (GO:0042110)|transmission of virus (GO:0019089)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	apicolateral plasma membrane (GO:0016327)|cell cortex (GO:0005938)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	beta-2 adrenergic receptor binding (GO:0031698)|ligase activity (GO:0016874)|phosphoserine binding (GO:0050815)|phosphothreonine binding (GO:0050816)|proline-rich region binding (GO:0070064)|protein domain specific binding (GO:0019904)|RNA polymerase binding (GO:0070063)|sodium channel inhibitor activity (GO:0019871)|ubiquitin binding (GO:0043130)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	43				all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113)		ACTTACTGGTCCAGTTATTGC	0.438																																							uc002adj.2		NA																	0				skin(2)|ovary(1)|breast(1)	4						c.(2794-2796)GGA>GTA		neural precursor cell expressed, developmentally							225.0	192.0	203.0					15																	56140574		2193	4292	6485	SO:0001583	missense	4734				development involved in symbiotic interaction|glucocorticoid receptor signaling pathway|negative regulation of sodium ion transport|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage|negative regulation of vascular endothelial growth factor receptor signaling pathway|neuron projection development|positive regulation of nucleocytoplasmic transport|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein catabolic process|progesterone receptor signaling pathway|protein K63-linked ubiquitination|protein targeting to lysosome|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|receptor internalization|regulation of dendrite morphogenesis|response to calcium ion|transmission of virus	apicolateral plasma membrane|cell cortex|chromatin|cytosol|perinuclear region of cytoplasm|ubiquitin ligase complex	beta-2 adrenergic receptor binding|phosphoserine binding|phosphothreonine binding|proline-rich region binding|protein domain specific binding|RNA polymerase binding|sodium channel inhibitor activity|ubiquitin binding|ubiquitin-protein ligase activity	g.chr15:56140574C>A	D42055	CCDS10156.1, CCDS45265.1, CCDS61643.1, CCDS61644.1	15q	2012-02-23	2012-02-23		ENSG00000069869	ENSG00000069869			7727	protein-coding gene	gene with protein product	"""receptor-potentiating factor 1"""	602278	"""neural precursor cell expressed, developmentally down-regulated 4"""			9073511, 8649367	Standard	XR_243101		Approved	KIAA0093, MGC176705, NEDD4-1, RPF1	uc002adi.3	P46934	OTTHUMG00000132015	ENST00000508342.1:c.2795G>T	15.37:g.56140574C>A	ENSP00000424827:p.Gly932Val					NEDD4_uc002adl.2_Missense_Mutation_p.G513V|NEDD4_uc002adi.2_Missense_Mutation_p.G860V|NEDD4_uc010ugj.1_Missense_Mutation_p.G916V|NEDD4_uc010bfm.2_Missense_Mutation_p.G915V|NEDD4_uc002adk.2_RNA	p.G932V	NM_198400	NP_006145	P46934	NEDD4_HUMAN		all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113)	13	3095	-			932			Mediates interaction with TNIK (By similarity).		A1KY35|A6ND72|A7MD29|B4E2R7|B7ZM59|B7ZM60|B9EGN5|D6RF89	Missense_Mutation	SNP	ENST00000508342.1	37	c.2795G>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.6|23.6	4.438398|4.438398	0.83885|0.83885	.|.	.|.	ENSG00000069869|ENSG00000069869	ENST00000508871|ENST00000508342;ENST00000435532;ENST00000338963;ENST00000506154	.|T;T;T;T	.|0.21932	.|1.98;2.06;1.99;1.98	5.76|5.76	4.84|4.84	0.62591|0.62591	.|WW/Rsp5/WWP (1);	.|0.374482	.|0.30752	.|N	.|0.008951	T|T	0.48750|0.48750	0.1517|0.1517	M|M	0.83953|0.83953	2.67|2.67	0.80722|0.80722	D|D	1|1	.|D;P;D;D	.|0.69078	.|0.996;0.929;0.991;0.997	.|D;P;P;D	.|0.73708	.|0.925;0.792;0.873;0.981	T|T	0.52845|0.52845	-0.8521|-0.8521	5|10	.|0.87932	.|D	.|0	.|.	14.1973|14.1973	0.65679|0.65679	0.0:0.9275:0.0:0.0725|0.0:0.9275:0.0:0.0725	.|.	.|916;513;932;860	.|P46934-2;P46934-4;P46934;P46934-3	.|.;.;NEDD4_HUMAN;.	Y|V	523|932;513;860;916	.|ENSP00000424827:G932V;ENSP00000410613:G513V;ENSP00000345530:G860V;ENSP00000422705:G916V	.|ENSP00000345530:G860V	D|G	-|-	1|2	0|0	NEDD4|NEDD4	53927866|53927866	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	5.748000|5.748000	0.68697|0.68697	2.726000|2.726000	0.93360|0.93360	0.655000|0.655000	0.94253|0.94253	GAC|GGA		0.438	NEDD4-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000359817.1	NM_198400		72	175	1	0	6.20368e-34	0.00361	9.68965e-34	72	175				
LIPC	3990	broad.mit.edu	37	15	58840561	58840561	+	Nonsense_Mutation	SNP	C	C	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr15:58840561C>T	ENST00000356113.6	+	8	1456	c.841C>T	c.(841-843)Cga>Tga	p.R281*	LIPC_ENST00000414170.3_Nonsense_Mutation_p.R281*|LIPC_ENST00000433326.2_Nonsense_Mutation_p.R220*|LIPC_ENST00000299022.5_Nonsense_Mutation_p.R281*			P11150	LIPC_HUMAN	lipase, hepatic	281					cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|chylomicron remnant clearance (GO:0034382)|fatty acid biosynthetic process (GO:0006633)|high-density lipoprotein particle remodeling (GO:0034375)|intermediate-density lipoprotein particle remodeling (GO:0034373)|low-density lipoprotein particle remodeling (GO:0034374)|phosphatidylcholine catabolic process (GO:0034638)|reverse cholesterol transport (GO:0043691)|triglyceride catabolic process (GO:0019433)|triglyceride homeostasis (GO:0070328)|very-low-density lipoprotein particle remodeling (GO:0034372)	extracellular space (GO:0005615)|high-density lipoprotein particle (GO:0034364)	apolipoprotein binding (GO:0034185)|heparin binding (GO:0008201)|low-density lipoprotein particle binding (GO:0030169)|phospholipase activity (GO:0004620)|triglyceride lipase activity (GO:0004806)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Colorectal(260;0.215)		GBM - Glioblastoma multiforme(80;0.00213)|all cancers(107;0.00548)		CTCCCACGAGCGATCGGTGCA	0.572																																							uc010bga.1		NA																	0				ovary(1)	1						c.(841-843)CGA>TGA		lipase C precursor							102.0	85.0	91.0					15																	58840561		2192	4292	6484	SO:0001587	stop_gained	3990				cholesterol homeostasis|chylomicron remnant clearance|fatty acid biosynthetic process|high-density lipoprotein particle remodeling|intermediate-density lipoprotein particle remodeling|low-density lipoprotein particle remodeling|phosphatidylcholine catabolic process|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle remodeling	high-density lipoprotein particle	apolipoprotein binding|heparin binding|low-density lipoprotein particle binding|phospholipase activity|triglyceride lipase activity	g.chr15:58840561C>T		CCDS10166.1	15q21-q23	2012-10-02			ENSG00000166035	ENSG00000166035	3.1.1.3		6619	protein-coding gene	gene with protein product		151670					Standard	NM_000236		Approved	HL, HTGL	uc002afa.2	P11150	OTTHUMG00000132632	ENST00000356113.6:c.841C>T	15.37:g.58840561C>T	ENSP00000348425:p.Arg281*					LIPC_uc010bfz.1_Nonsense_Mutation_p.R281*|LIPC_uc002afa.1_Nonsense_Mutation_p.R281*|LIPC_uc010bgb.1_Nonsense_Mutation_p.R179*|LIPC_uc010ugy.1_Nonsense_Mutation_p.R220*	p.R281*	NM_000236	NP_000227	P11150	LIPC_HUMAN		GBM - Glioblastoma multiforme(80;0.00213)|all cancers(107;0.00548)	8	1449	+		Colorectal(260;0.215)	281					A2RUB4|A8K9B6|O43571|P78529|Q99465	Nonsense_Mutation	SNP	ENST00000356113.6	37	c.841C>T	CCDS10166.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.259159	0.80246	.	.	ENSG00000166035	ENST00000356113;ENST00000414170;ENST00000299022;ENST00000433326	.	.	.	5.18	3.17	0.36434	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.9219	0.63937	0.4482:0.5518:0.0:0.0	.	.	.	.	X	281;281;281;220	.	ENSP00000299022:R281X	R	+	1	2	LIPC	56627853	1.000000	0.71417	0.995000	0.50966	0.083000	0.17756	2.471000	0.45127	1.383000	0.46405	0.655000	0.94253	CGA		0.572	LIPC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416209.1			13	135	0	0	0	0.007413	0	13	135				
RORA	6095	broad.mit.edu	37	15	60795032	60795032	+	Silent	SNP	A	A	C			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr15:60795032A>C	ENST00000335670.6	-	8	1210	c.1110T>G	c.(1108-1110)cgT>cgG	p.R370R	RP11-219B17.1_ENST00000558140.1_RNA|RP11-219B17.1_ENST00000559824.1_RNA|RORA_ENST00000449337.2_Silent_p.R315R|RORA_ENST00000261523.5_Silent_p.R403R|RP11-219B17.1_ENST00000501579.2_RNA|RORA_ENST00000309157.4_Silent_p.R395R|RP11-219B17.1_ENST00000558235.1_RNA	NM_134261.2	NP_599023.1	P35398	RORA_HUMAN	RAR-related orphan receptor A	370	Ligand-binding.				angiogenesis (GO:0001525)|cellular response to hypoxia (GO:0071456)|cellular response to sterol (GO:0036315)|cerebellar granule cell precursor proliferation (GO:0021930)|cerebellar Purkinje cell differentiation (GO:0021702)|cGMP metabolic process (GO:0046068)|circadian regulation of gene expression (GO:0032922)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|muscle cell differentiation (GO:0042692)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|nitric oxide biosynthetic process (GO:0006809)|positive regulation of circadian rhythm (GO:0042753)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of cholesterol homeostasis (GO:2000188)|regulation of glucose metabolic process (GO:0010906)|regulation of macrophage activation (GO:0043030)|regulation of smoothened signaling pathway (GO:0008589)|regulation of steroid metabolic process (GO:0019218)|regulation of transcription involved in cell fate commitment (GO:0060850)|regulation of transcription, DNA-templated (GO:0006355)|T-helper 17 cell differentiation (GO:0072539)|transcription initiation from RNA polymerase II promoter (GO:0006367)|triglyceride homeostasis (GO:0070328)|xenobiotic metabolic process (GO:0006805)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	direct ligand regulated sequence-specific DNA binding transcription factor activity (GO:0098531)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|oxysterol binding (GO:0008142)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription coactivator binding (GO:0001223)|transcription corepressor binding (GO:0001222)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	21						AGTCAAAGGCACGGCACATTC	0.458																																							uc002agv.2		NA																	0				large_intestine(1)|ovary(1)	2						c.(1207-1209)CGT>CGG		RAR-related orphan receptor A isoform b							263.0	241.0	248.0					15																	60795032		2203	4300	6503	SO:0001819	synonymous_variant	6095				positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr15:60795032A>C	U04897	CCDS10177.1, CCDS10178.1, CCDS10179.1, CCDS45271.1	15q21-q22	2013-01-16			ENSG00000069667	ENSG00000069667		"""Nuclear hormone receptors"""	10258	protein-coding gene	gene with protein product		600825				7926749	Standard	NM_134261		Approved	RZRA, ROR1, ROR2, ROR3, NR1F1	uc002agv.3	P35398	OTTHUMG00000132769	ENST00000335670.6:c.1110T>G	15.37:g.60795032A>C						uc002ags.1_Intron|RORA_uc002agt.3_Silent_p.R315R|RORA_uc002agw.2_Silent_p.R395R|RORA_uc002agx.2_Silent_p.R370R	p.R403R	NM_134260	NP_599022	P35398	RORA_HUMAN			9	1365	-			403			Ligand-binding.		P35397|P35399|P45445|Q495X4|Q96H83	Silent	SNP	ENST00000335670.6	37	c.1209T>G	CCDS10177.1																																																																																				0.458	RORA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256142.2			77	236	0	0	0	0.00361	0	77	236				
CLPX	10845	broad.mit.edu	37	15	65450964	65450964	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr15:65450964C>A	ENST00000300107.3	-	7	1029	c.841G>T	c.(841-843)Gac>Tac	p.D281Y		NM_006660.3	NP_006651.2	O76031	CLPX_HUMAN	caseinolytic mitochondrial matrix peptidase chaperone subunit	281					ATP catabolic process (GO:0006200)|positive regulation of peptidase activity (GO:0010952)|protein folding (GO:0006457)|proteolysis involved in cellular protein catabolic process (GO:0051603)	endopeptidase Clp complex (GO:0009368)|mitochondrial endopeptidase Clp complex (GO:0009841)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|metal ion binding (GO:0046872)|peptidase activator activity (GO:0016504)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(4)|prostate(1)|skin(2)	16						AGTTTTATGTCATCATGAGAA	0.353																																							uc002aom.2		NA																	0					0						c.(841-843)GAC>TAC		ClpX caseinolytic protease X homolog precursor							194.0	172.0	180.0					15																	65450964		2201	4299	6500	SO:0001583	missense	10845				protein folding|proteolysis involved in cellular protein catabolic process	mitochondrial endopeptidase Clp complex|mitochondrial inner membrane|mitochondrial nucleoid	ATP binding|ATPase activity|metal ion binding|peptidase activator activity|unfolded protein binding	g.chr15:65450964C>A	AJ006267	CCDS10202.1	15q22.31	2013-09-12	2013-09-12		ENSG00000166855	ENSG00000166855		"""ATPases / AAA-type"""	2088	protein-coding gene	gene with protein product		615611	"""ClpX (caseinolytic protease X, E. coli) homolog"", ""ClpX caseinolytic protease X homolog (E. coli)"", ""ClpX caseinolytic peptidase X homolog (E. coli)"""			22841477	Standard	NM_006660		Approved		uc002aom.3	O76031	OTTHUMG00000133139	ENST00000300107.3:c.841G>T	15.37:g.65450964C>A	ENSP00000300107:p.Asp281Tyr					CLPX_uc010uiu.1_Intron|CLPX_uc010bhg.1_Missense_Mutation_p.D281Y	p.D281Y	NM_006660	NP_006651	O76031	CLPX_HUMAN			7	913	-			281					A1L428|A8K8F1|B9EGI8|Q9H4D9	Missense_Mutation	SNP	ENST00000300107.3	37	c.841G>T	CCDS10202.1	.	.	.	.	.	.	.	.	.	.	C	29.9	5.047981	0.93740	.	.	ENSG00000166855	ENST00000300107;ENST00000546194	T	0.44482	0.92	6.07	6.07	0.98685	.	0.039985	0.85682	D	0.000000	T	0.50701	0.1631	L	0.27053	0.805	0.80722	D	1	D;P	0.64830	0.994;0.823	P;P	0.57371	0.819;0.594	T	0.50566	-0.8813	10	0.87932	D	0	.	20.6593	0.99626	0.0:1.0:0.0:0.0	.	281;281	Q9H072;O76031	.;CLPX_HUMAN	Y	281	ENSP00000300107:D281Y	ENSP00000300107:D281Y	D	-	1	0	CLPX	63238017	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.670000	0.83925	2.885000	0.99019	0.655000	0.94253	GAC		0.353	CLPX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256828.2	NM_006660		17	117	1	0	2.4624e-09	0.008871	2.99344e-09	17	117				
IGDCC4	57722	broad.mit.edu	37	15	65684477	65684477	+	Missense_Mutation	SNP	T	T	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr15:65684477T>A	ENST00000352385.2	-	11	2326	c.2117A>T	c.(2116-2118)cAg>cTg	p.Q706L		NM_020962.1	NP_066013.1	Q8TDY8	IGDC4_HUMAN	immunoglobulin superfamily, DCC subclass, member 4	706	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	44						CTCACCTAGCTGGGTCAGCTC	0.607																																							uc002aou.1		NA																	0				ovary(1)|pancreas(1)|skin(1)	3						c.(2116-2118)CAG>CTG		immunoglobulin superfamily, DCC subclass, member							31.0	37.0	35.0					15																	65684477		2104	4228	6332	SO:0001583	missense	57722					integral to membrane|plasma membrane		g.chr15:65684477T>A		CCDS10206.1	15q22.31	2013-02-11			ENSG00000103742	ENSG00000103742		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	13770	protein-coding gene	gene with protein product	"""likely ortholog of mouse neighbor of Punc E11"""						Standard	NM_020962		Approved	NOPE, LOC57722	uc002aou.1	Q8TDY8	OTTHUMG00000133136	ENST00000352385.2:c.2117A>T	15.37:g.65684477T>A	ENSP00000319623:p.Gln706Leu					IGDCC4_uc002aot.1_Missense_Mutation_p.Q294L	p.Q706L	NM_020962	NP_066013	Q8TDY8	IGDC4_HUMAN			11	2327	-			706			Extracellular (Potential).|Fibronectin type-III 3.		Q9HCE4	Missense_Mutation	SNP	ENST00000352385.2	37	c.2117A>T	CCDS10206.1	.	.	.	.	.	.	.	.	.	.	T	14.72	2.619348	0.46736	.	.	ENSG00000103742	ENST00000352385;ENST00000356152	T	0.57436	0.4	5.49	3.16	0.36331	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.227351	0.38897	N	0.001524	T	0.45637	0.1352	L	0.52573	1.65	0.31030	N	0.717542	B	0.28470	0.213	B	0.31495	0.131	T	0.53457	-0.8436	10	0.62326	D	0.03	-11.0086	8.6249	0.33883	0.0:0.2248:0.0:0.7752	.	706	Q8TDY8	IGDC4_HUMAN	L	706;435	ENSP00000319623:Q706L	ENSP00000319623:Q706L	Q	-	2	0	IGDCC4	63471530	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.895000	0.39778	0.892000	0.36259	0.533000	0.62120	CAG		0.607	IGDCC4-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000256825.2	NM_020962		18	123	0	0	0	0.008871	0	18	123				
ANP32A	8125	broad.mit.edu	37	15	69072434	69072434	+	Missense_Mutation	SNP	C	C	G			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr15:69072434C>G	ENST00000465139.2	-	7	879	c.736G>C	c.(736-738)Gaa>Caa	p.E246Q	ANP32A_ENST00000483551.2_5'UTR	NM_006305.3	NP_006296.1	P39687	AN32A_HUMAN	acidic (leucine-rich) nuclear phosphoprotein 32 family, member A	246	Asp/Glu-rich (highly acidic).|Interaction with E4F1. {ECO:0000250}.				gene expression (GO:0010467)|intracellular signal transduction (GO:0035556)|mRNA metabolic process (GO:0016071)|nucleocytoplasmic transport (GO:0006913)|regulation of transcription, DNA-templated (GO:0006355)|RNA metabolic process (GO:0016070)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	poly(A) RNA binding (GO:0044822)			endometrium(1)|large_intestine(1)|lung(2)	4						TCATCATCTTCTCCCTCATCT	0.418																																							uc002arl.2		NA																	0					0						c.(736-738)GAA>CAA		acidic (leucine-rich) nuclear phosphoprotein 32							65.0	72.0	70.0					15																	69072434		2199	4298	6497	SO:0001583	missense	8125				intracellular signal transduction|mRNA metabolic process|nucleocytoplasmic transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	endoplasmic reticulum|nucleoplasm|perinuclear region of cytoplasm	protein binding	g.chr15:69072434C>G	AF025684	CCDS45292.1	15q23	2008-05-14			ENSG00000140350	ENSG00000140350		"""ANP32 acidic nuclear phosphoproteins"""	13233	protein-coding gene	gene with protein product		600832		C15orf1		8970164, 9144194	Standard	NM_006305		Approved	LANP, PP32, I1PP2A, PHAPI, MAPM, mapmodulin	uc002arl.3	P39687	OTTHUMG00000154502	ENST00000465139.2:c.736G>C	15.37:g.69072434C>G	ENSP00000417864:p.Glu246Gln						p.E246Q	NM_006305	NP_006296	P39687	AN32A_HUMAN			7	907	-			246			Interaction with E4F1 (By similarity).|Asp/Glu-rich (highly acidic).		B2R6T4|Q53FK4|Q5J8L8|Q7M4N6	Missense_Mutation	SNP	ENST00000465139.2	37	c.736G>C	CCDS45292.1	.	.	.	.	.	.	.	.	.	.	C	16.34	3.096419	0.56075	.	.	ENSG00000140350	ENST00000465139	T	0.38401	1.14	5.11	5.11	0.69529	.	0.097920	0.64402	D	0.000001	T	0.36963	0.0986	L	0.49126	1.545	0.80722	D	1	B	0.26635	0.155	B	0.25884	0.064	T	0.17992	-1.0351	10	0.49607	T	0.09	.	17.8884	0.88864	0.0:1.0:0.0:0.0	.	246	P39687	AN32A_HUMAN	Q	246	ENSP00000417864:E246Q	ENSP00000417864:E246Q	E	-	1	0	ANP32A	66859488	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	6.769000	0.74985	2.537000	0.85549	0.561000	0.74099	GAA		0.418	ANP32A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335525.2			7	60	0	0	0	0.006214	0	7	60				
LOC645752	645752	broad.mit.edu	37	15	78207594	78207594	+	lincRNA	SNP	C	C	G			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr15:78207594C>G	ENST00000565869.1	+	0	0				RN7SL214P_ENST00000487317.2_RNA																							TGGGGAGAACCCTCCCTGGCC	0.592																																							uc010bky.2		NA																	0					0						c.(1318-1320)GGT>CGT		SubName: Full=GOLGA6 protein; Flags: Fragment;																																						645752							g.chr15:78207594C>G																													15.37:g.78207594C>G						LOC645752_uc010umq.1_Missense_Mutation_p.G87R|uc002bcw.1_5'Flank|uc002bcx.1_5'Flank	p.G440R	NR_027024						18	2082	-									Missense_Mutation	SNP	ENST00000565869.1	37	c.1318G>C																																																																																					0.592	RP11-114H24.7-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000421587.1			38	11	0	0	0	0.00874	0	38	11				
CHRNA3	1136	broad.mit.edu	37	15	78888978	78888978	+	Missense_Mutation	SNP	G	G	C			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr15:78888978G>C	ENST00000326828.5	-	6	1870	c.1486C>G	c.(1486-1488)Ctg>Gtg	p.L496V	CHRNA3_ENST00000348639.3_Intron	NM_000743.4	NP_000734.2	P32297	ACHA3_HUMAN	cholinergic receptor, nicotinic, alpha 3 (neuronal)	496					activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|behavioral response to nicotine (GO:0035095)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|locomotory behavior (GO:0007626)|nervous system development (GO:0007399)|regulation of acetylcholine secretion, neurotransmission (GO:0014056)|regulation of dendrite morphogenesis (GO:0048814)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of membrane potential (GO:0042391)|regulation of smooth muscle contraction (GO:0006940)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission involved in micturition (GO:0060084)|synaptic transmission, cholinergic (GO:0007271)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|ligand-gated ion channel activity (GO:0015276)			central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18					Bupropion(DB01156)|Dextromethorphan(DB00514)|Galantamine(DB00674)|Levomethadyl Acetate(DB01227)|Nicotine(DB00184)|Pentolinium(DB01090)|Varenicline(DB01273)	AGGGGTTGCAGAAACAATCCT	0.498																																							uc002bec.2		NA																	0				central_nervous_system(3)|ovary(1)	4						c.(1486-1488)CTG>GTG		cholinergic receptor, nicotinic, alpha 3							104.0	94.0	98.0					15																	78888978		2196	4293	6489	SO:0001583	missense	1136				activation of transmembrane receptor protein tyrosine kinase activity|behavioral response to nicotine|locomotory behavior|regulation of acetylcholine secretion|regulation of dendrite morphogenesis|regulation of excitatory postsynaptic membrane potential|regulation of smooth muscle contraction|synaptic transmission involved in micturition|synaptic transmission, cholinergic	cell junction|dendrite|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic density|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	g.chr15:78888978G>C		CCDS10305.1, CCDS53964.1	15q24	2012-02-11	2012-02-07		ENSG00000080644	ENSG00000080644		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1957	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, alpha 3 (neuronal)"""	118503	"""cholinergic receptor, nicotinic, alpha polypeptide 3"""			2004777	Standard	NM_000743		Approved		uc002bec.3	P32297	OTTHUMG00000143863	ENST00000326828.5:c.1486C>G	15.37:g.78888978G>C	ENSP00000315602:p.Leu496Val					CHRNA3_uc002bea.2_RNA|CHRNA3_uc002beb.2_Intron|CHRNA3_uc010blg.1_RNA	p.L496V	NM_000743	NP_000734	P32297	ACHA3_HUMAN			6	1672	-			496			Helical; (Potential).		Q15823|Q4KMN8|Q86U77|Q96RH3|Q99553|Q9BQ93|Q9BRR4	Missense_Mutation	SNP	ENST00000326828.5	37	c.1486C>G	CCDS10305.1	.	.	.	.	.	.	.	.	.	.	G	14.40	2.523709	0.44866	.	.	ENSG00000080644	ENST00000326828;ENST00000326858	T	0.72167	-0.63	5.13	3.97	0.46021	Neurotransmitter-gated ion-channel transmembrane domain (1);	0.000000	0.64402	D	0.000001	T	0.64605	0.2613	M	0.76170	2.325	0.51767	D	0.999931	P	0.41131	0.739	B	0.38803	0.282	T	0.69606	-0.5100	10	0.66056	D	0.02	.	3.7386	0.08521	0.3531:0.0:0.6469:0.0	.	496	P32297	ACHA3_HUMAN	V	496;303	ENSP00000315602:L496V	ENSP00000315602:L496V	L	-	1	2	CHRNA3	76676033	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	2.003000	0.40844	2.548000	0.85928	0.655000	0.94253	CTG		0.498	CHRNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000290111.3			35	72	0	0	0	0.005524	0	35	72				
TMC3	342125	broad.mit.edu	37	15	81635632	81635633	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	GG	GG	-	-	GG	GG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr15:81635632_81635633GG>TT	ENST00000359440.5	-	15	1836_1837	c.1701_1702CC>AA	c.(1699-1704)aaCCaa>aaAAaa	p.567_568NQ>KK	RP11-761I4.3_ENST00000559277.1_RNA|RP11-761I4.3_ENST00000560851.1_RNA|RP11-761I4.3_ENST00000560973.1_RNA|RP11-761I4.3_ENST00000559781.1_RNA|TMC3_ENST00000558726.1_Missense_Mutation_p.568_569NQ>KK	NM_001080532.1	NP_001074001.1			transmembrane channel-like 3											autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						ATCATTCCTTGGTTGTAGACTA	0.351																																							uc002bgo.1		NA																	0				ovary(1)|liver(1)	2						c.(1699-1704)AACCAA>AAAAAA		transmembrane channel-like 3																																				SO:0001583	missense	342125					integral to membrane		g.chr15:81635632_81635633GG>TT	AY263163	CCDS45324.1	15q24.3	2006-11-24				ENSG00000188869			22995	protein-coding gene	gene with protein product						12906855, 12812529	Standard	NM_001080532		Approved		uc021ssk.1	Q7Z5M5		ENST00000359440.5:c.1701_1702delinsTT	15.37:g.81635632_81635633delinsTT	ENSP00000352413:p.N567_Q568delinsKK					TMC3_uc010blr.1_RNA|TMC3_uc002bgp.2_Missense_Mutation_p.567_568NQ>KK	p.567_568NQ>KK	NM_001080532	NP_001074001	Q7Z5M5	TMC3_HUMAN			15	1701_1702	-			567_568			Extracellular (Potential).			Missense_Mutation	DNP	ENST00000359440.5	37	c.1701_1702CC>AA	CCDS45324.1																																																																																				0.351	TMC3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417795.3	NM_181841		16	69	0	0	0	0.004672	0	16	69				
CPEB1	64506	broad.mit.edu	37	15	83226530	83226530	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr15:83226530C>A	ENST00000562019.1	-	4	902	c.586G>T	c.(586-588)Gat>Tat	p.D196Y	RP11-379H8.1_ENST00000568285.1_Intron|CPEB1_ENST00000568757.1_Missense_Mutation_p.D121Y|CPEB1_ENST00000398591.2_Missense_Mutation_p.D121Y|RP11-152F13.10_ENST00000562833.1_5'Flank|CPEB1_ENST00000398592.2_Intron|CPEB1_ENST00000261723.6_Missense_Mutation_p.D199Y|CPEB1_ENST00000423133.2_Missense_Mutation_p.D121Y|CPEB1_ENST00000563800.1_Missense_Mutation_p.D223Y|CPEB1_ENST00000564522.1_Missense_Mutation_p.D121Y|CPEB1_ENST00000568128.1_Missense_Mutation_p.D196Y|CPEB1_ENST00000450751.2_Missense_Mutation_p.D121Y			Q9BZB8	CPEB1_HUMAN	cytoplasmic polyadenylation element binding protein 1	196	Ser-rich.				cellular response to amino acid stimulus (GO:0071230)|cellular response to hypoxia (GO:0071456)|cellular response to insulin stimulus (GO:0032869)|mRNA processing (GO:0006397)|negative regulation of cytoplasmic translation (GO:2000766)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|ribonucleoprotein complex (GO:0030529)	metal ion binding (GO:0046872)|mRNA 3'-UTR AU-rich region binding (GO:0035925)|nucleotide binding (GO:0000166)|translation repressor activity, nucleic acid binding (GO:0000900)			breast(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(1)|lung(9)|ovary(1)|skin(1)	28			BRCA - Breast invasive adenocarcinoma(143;0.229)			GAGAGATGATCTGATCCAGAG	0.522																																							uc002bit.2		NA																	0				ovary(1)|breast(1)	2						c.(766-768)GAT>TAT		cytoplasmic polyadenylation element binding							96.0	95.0	95.0					15																	83226530		1952	4177	6129	SO:0001583	missense	64506				mRNA processing|regulation of translation	cell junction|cytoplasmic mRNA processing body|dendrite|postsynaptic density|postsynaptic membrane	nucleotide binding|RNA binding	g.chr15:83226530C>A	AF329402	CCDS42072.1, CCDS45329.1, CCDS45330.1, CCDS42072.2, CCDS45329.2, CCDS45330.2	15q25.1	2008-02-05				ENSG00000214575			21744	protein-coding gene	gene with protein product		607342				11223249	Standard	NM_001079533		Approved	FLJ13203, CPEB	uc002biv.3	Q9BZB8		ENST00000562019.1:c.586G>T	15.37:g.83226530C>A	ENSP00000457836:p.Asp196Tyr					CPEB1_uc002biq.2_Missense_Mutation_p.D121Y|CPEB1_uc002bir.2_Missense_Mutation_p.D121Y|CPEB1_uc002bis.2_Missense_Mutation_p.D121Y|CPEB1_uc010uod.1_Intron|CPEB1_uc010uoe.1_Missense_Mutation_p.D199Y|CPEB1_uc002biu.2_Missense_Mutation_p.D223Y|CPEB1_uc010uof.1_Missense_Mutation_p.D121Y|CPEB1_uc002biv.2_Missense_Mutation_p.D196Y|CPEB1_uc002bip.2_5'Flank	p.D256Y	NM_001079533	NP_001073001	Q9BZB8	CPEB1_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.229)		4	903	-			196			Ser-rich.		B7Z6C6|Q86W46|Q8IV41|Q9BZB7|Q9H8V5	Missense_Mutation	SNP	ENST00000562019.1	37	c.766G>T		.	.	.	.	.	.	.	.	.	.	C	33	5.246264	0.95305	.	.	ENSG00000214575	ENST00000450751;ENST00000398593;ENST00000423133;ENST00000398591;ENST00000261723	T;T;T;T	0.08896	3.1;3.04;3.04;3.04	6.08	6.08	0.98989	.	0.000000	0.85682	U	0.000000	T	0.21347	0.0514	L	0.27053	0.805	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.998;0.999;0.999	T	0.00538	-1.1682	10	0.87932	D	0	-12.597	20.6634	0.99662	0.0:1.0:0.0:0.0	.	199;196;196;196	B7Z237;Q9BZB8-3;Q9BZB8;E7ET70	.;.;CPEB1_HUMAN;.	Y	196;196;121;121;199	ENSP00000414187:D196Y;ENSP00000397526:D121Y;ENSP00000381591:D121Y;ENSP00000261723:D199Y	ENSP00000261723:D199Y	D	-	1	0	CPEB1	81023585	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.760000	0.85248	2.894000	0.99253	0.655000	0.94253	GAT		0.522	CPEB1-006	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000421102.1	NM_030594		22	94	1	0	8.24728e-16	0.004656	1.12301e-15	22	94				
ALPK3	57538	broad.mit.edu	37	15	85399757	85399757	+	Silent	SNP	G	G	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr15:85399757G>A	ENST00000258888.5	+	6	2561	c.2394G>A	c.(2392-2394)ggG>ggA	p.G798G		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3	798					heart development (GO:0007507)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			AGGAGGATGGGAGAACATCTG	0.512																																							uc002ble.2		NA																	0				stomach(3)|ovary(3)|lung(2)|skin(2)|central_nervous_system(1)|breast(1)	12						c.(2392-2394)GGG>GGA		alpha-kinase 3							126.0	105.0	112.0					15																	85399757		2203	4299	6502	SO:0001819	synonymous_variant	57538				heart development	nucleus	ATP binding|protein serine/threonine kinase activity	g.chr15:85399757G>A	AY044449	CCDS10333.1	15q25.2	2013-01-29			ENSG00000136383	ENSG00000136383		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17574	protein-coding gene	gene with protein product	"""myocyte induction differentiation originator"", ""muscle alpha-kinase"""					10021370	Standard	NM_020778		Approved	MAK, KIAA1330, Midori	uc002ble.3	Q96L96	OTTHUMG00000148667	ENST00000258888.5:c.2394G>A	15.37:g.85399757G>A							p.G798G	NM_020778	NP_065829	Q96L96	ALPK3_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0587)		6	2561	+			798					Q9P2L6	Silent	SNP	ENST00000258888.5	37	c.2394G>A	CCDS10333.1																																																																																				0.512	ALPK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308997.1	NM_020778		12	61	0	0	0	0.001368	0	12	61				
ACAN	176	broad.mit.edu	37	15	89383370	89383370	+	Missense_Mutation	SNP	C	C	G	rs375544241	byFrequency	TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr15:89383370C>G	ENST00000561243.1	+	3	582	c.582C>G	c.(580-582)gaC>gaG	p.D194E	ACAN_ENST00000559004.1_Missense_Mutation_p.D194E|ACAN_ENST00000352105.7_Missense_Mutation_p.D194E|ACAN_ENST00000439576.2_Missense_Mutation_p.D194E|ACAN_ENST00000558207.1_Missense_Mutation_p.D194E			P16112	PGCA_HUMAN	aggrecan	194	G1-B.|Link 1. {ECO:0000255|PROSITE- ProRule:PRU00323}.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|extracellular matrix structural constituent (GO:0005201)|hyaluronic acid binding (GO:0005540)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			CCTACGAAGACGGCTTCCACC	0.647																																							uc010upo.1		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(580-582)GAC>GAG		aggrecan isoform 2 precursor							25.0	25.0	25.0					15																	89383370		2153	4266	6419	SO:0001583	missense	176				cell adhesion		hyaluronic acid binding|sugar binding	g.chr15:89383370C>G	M55172	CCDS53970.1, CCDS53971.1	15q26.1	2013-05-07	2007-02-16	2007-02-16	ENSG00000157766	ENSG00000157766		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	319	protein-coding gene	gene with protein product	"""aggrecan proteoglycan"""	155760	"""chondroitin sulfate proteoglycan 1"", ""aggrecan 1"""	MSK16, CSPG1, AGC1		1985970	Standard	NM_013227		Approved	CSPGCP	uc010upo.1	P16112	OTTHUMG00000171989	ENST00000561243.1:c.582C>G	15.37:g.89383370C>G	ENSP00000453342:p.Asp194Glu					ACAN_uc002bmx.2_Missense_Mutation_p.D194E|ACAN_uc010upp.1_Missense_Mutation_p.D194E|ACAN_uc002bna.2_RNA	p.D194E	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.146)		4	956	+	Lung NSC(78;0.0392)|all_lung(78;0.077)		194					Q13650|Q9UCD3|Q9UCP4|Q9UCP5|Q9UDE0	Missense_Mutation	SNP	ENST00000561243.1	37	c.582C>G	CCDS53970.1	.	.	.	.	.	.	.	.	.	.	C	16.54	3.151409	0.57151	.	.	ENSG00000157766	ENST00000439576;ENST00000352105;ENST00000268134	T;T	0.09817	2.94;2.94	5.79	-4.18	0.03846	.	0.000000	0.34223	N	0.004155	T	0.17959	0.0431	L	0.33710	1.025	0.35471	D	0.797355	D;D;D	0.89917	1.0;1.0;0.987	D;D;D	0.97110	1.0;1.0;0.911	T	0.00318	-1.1821	10	0.49607	T	0.09	-28.8674	14.7221	0.69314	0.0:0.2434:0.0:0.7566	.	194;194;194	E7ENV9;E7EX88;Q6PID9	.;.;.	E	194	ENSP00000387356:D194E;ENSP00000341615:D194E	ENSP00000268134:D194E	D	+	3	2	ACAN	87184374	0.213000	0.23551	0.970000	0.41538	0.939000	0.58152	-0.394000	0.07296	-0.649000	0.05430	-0.794000	0.03295	GAC		0.647	ACAN-006	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416267.2	NM_001135		3	19	0	0	0	0.009096	0	3	19				
ACAN	176	broad.mit.edu	37	15	89398664	89398664	+	Missense_Mutation	SNP	G	G	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr15:89398664G>A	ENST00000561243.1	+	11	2848	c.2848G>A	c.(2848-2850)Gga>Aga	p.G950R	ACAN_ENST00000559004.1_Missense_Mutation_p.G950R|ACAN_ENST00000352105.7_Missense_Mutation_p.G950R|ACAN_ENST00000439576.2_Missense_Mutation_p.G950R			P16112	PGCA_HUMAN	aggrecan	949	29 X 19 AA approximate tandem repeats of E-[IVDG]-[LV]-[EV]-[GTI]-[STA]-[ATV]- [SP]-[GA]-[VIFAD]-[GEDL]-[DE]-[LVI]-[SG]- [GERK]-[LV]-P-S-G.|CS-1.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|extracellular matrix structural constituent (GO:0005201)|hyaluronic acid binding (GO:0005540)|metal ion binding (GO:0046872)	p.G950R(1)		NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			CTCTGCCTCTGGAGTTGGGGA	0.547																																							uc010upo.1		NA																	1	Substitution - Missense(1)		skin(1)	ovary(2)|central_nervous_system(1)	3						c.(2848-2850)GGA>AGA		aggrecan isoform 2 precursor							72.0	77.0	75.0					15																	89398664		1860	4111	5971	SO:0001583	missense	176				cell adhesion		hyaluronic acid binding|sugar binding	g.chr15:89398664G>A	M55172	CCDS53970.1, CCDS53971.1	15q26.1	2013-05-07	2007-02-16	2007-02-16	ENSG00000157766	ENSG00000157766		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	319	protein-coding gene	gene with protein product	"""aggrecan proteoglycan"""	155760	"""chondroitin sulfate proteoglycan 1"", ""aggrecan 1"""	MSK16, CSPG1, AGC1		1985970	Standard	NM_013227		Approved	CSPGCP	uc010upo.1	P16112	OTTHUMG00000171989	ENST00000561243.1:c.2848G>A	15.37:g.89398664G>A	ENSP00000453342:p.Gly950Arg					ACAN_uc010upp.1_Missense_Mutation_p.G950R|ACAN_uc002bna.2_RNA	p.G950R	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.146)		12	3222	+	Lung NSC(78;0.0392)|all_lung(78;0.077)		950					Q13650|Q9UCD3|Q9UCP4|Q9UCP5|Q9UDE0	Missense_Mutation	SNP	ENST00000561243.1	37	c.2848G>A	CCDS53970.1	.	.	.	.	.	.	.	.	.	.	G	13.21	2.169841	0.38315	.	.	ENSG00000157766	ENST00000439576;ENST00000352105;ENST00000268134	D;D	0.98835	-5.17;-5.17	4.49	4.49	0.54785	.	.	.	.	.	D	0.99017	0.9664	M	0.81942	2.565	0.20975	N	0.999815	D;D	0.76494	0.996;0.999	D;D	0.75484	0.969;0.986	D	0.96225	0.9163	9	0.51188	T	0.08	-5.2892	14.4964	0.67691	0.0:0.0:1.0:0.0	.	950;950	E7ENV9;E7EX88	.;.	R	950	ENSP00000387356:G950R;ENSP00000341615:G950R	ENSP00000268134:G950R	G	+	1	0	ACAN	87199668	1.000000	0.71417	0.192000	0.23308	0.059000	0.15707	3.835000	0.55805	2.311000	0.77944	0.563000	0.77884	GGA		0.547	ACAN-006	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416267.2	NM_001135		29	42	0	0	0	0.008361	0	29	42				
WDR93	56964	broad.mit.edu	37	15	90255262	90255262	+	Silent	SNP	T	T	C			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr15:90255262T>C	ENST00000268130.7	+	5	668	c.567T>C	c.(565-567)gaT>gaC	p.D189D	WDR93_ENST00000560294.1_Silent_p.D189D|RNU6-132P_ENST00000383863.1_RNA	NM_020212.1	NP_064597.1	Q6P2C0	WDR93_HUMAN	WD repeat domain 93	189					electron transport chain (GO:0022900)		oxidoreductase activity, acting on NAD(P)H (GO:0016651)			NS(1)|breast(3)|endometrium(2)|kidney(4)|large_intestine(5)|liver(2)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	33	Lung NSC(78;0.0237)|all_lung(78;0.0478)		KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|BRCA - Breast invasive adenocarcinoma(143;0.128)			TTCAGGATGATACCAGCAAGC	0.448																																							uc002boj.2		NA																	0				ovary(2)	2						c.(565-567)GAT>GAC		WD repeat domain 93							87.0	90.0	89.0					15																	90255262		2200	4299	6499	SO:0001819	synonymous_variant	56964				electron transport chain	mitochondrial inner membrane	oxidoreductase activity, acting on NADH or NADPH	g.chr15:90255262T>C		CCDS32326.1, CCDS66862.1, CCDS73779.1	15q26.1	2012-11-02						"""WD repeat domain containing"""	26924	protein-coding gene	gene with protein product							Standard	NM_020212		Approved		uc002boj.3	Q6P2C0		ENST00000268130.7:c.567T>C	15.37:g.90255262T>C						WDR93_uc010bnr.2_Silent_p.D189D	p.D189D	NM_020212	NP_064597	Q6P2C0	WDR93_HUMAN	KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|BRCA - Breast invasive adenocarcinoma(143;0.128)		5	668	+	Lung NSC(78;0.0237)|all_lung(78;0.0478)		189					Q8N7Y8|Q9NP89	Silent	SNP	ENST00000268130.7	37	c.567T>C	CCDS32326.1																																																																																				0.448	WDR93-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000416369.1	NM_020212		10	54	0	0	0	0.001368	0	10	54				
SV2B	9899	broad.mit.edu	37	15	91801761	91801761	+	Missense_Mutation	SNP	G	G	C			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr15:91801761G>C	ENST00000394232.1	+	5	1365	c.895G>C	c.(895-897)Gag>Cag	p.E299Q	SV2B_ENST00000330276.4_Missense_Mutation_p.E299Q|SV2B_ENST00000545111.2_Missense_Mutation_p.E148Q	NM_014848.4	NP_055663.1	Q7L1I2	SV2B_HUMAN	synaptic vesicle glycoprotein 2B	299					neurotransmitter transport (GO:0006836)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	transmembrane transporter activity (GO:0022857)			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(17)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42	Lung NSC(78;0.0987)|all_lung(78;0.172)		BRCA - Breast invasive adenocarcinoma(143;0.0895)			GTTCATGCCAGAGAGCCCAAG	0.552																																							uc002bqv.2		NA																	0				ovary(3)|central_nervous_system(2)|skin(2)|upper_aerodigestive_tract(1)	8						c.(895-897)GAG>CAG		synaptic vesicle protein 2B homolog							149.0	120.0	130.0					15																	91801761		2198	4298	6496	SO:0001583	missense	9899				neurotransmitter transport	acrosomal vesicle|cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity	g.chr15:91801761G>C	AB018278	CCDS10370.1, CCDS53972.1	15q26.1	2005-01-10			ENSG00000185518	ENSG00000185518			16874	protein-coding gene	gene with protein product		185861				9872452, 7681585	Standard	NM_014848		Approved	KIAA0735, HsT19680	uc002bqv.3	Q7L1I2	OTTHUMG00000149833	ENST00000394232.1:c.895G>C	15.37:g.91801761G>C	ENSP00000377779:p.Glu299Gln					SV2B_uc002bqt.2_Missense_Mutation_p.E299Q|SV2B_uc010uqv.1_Missense_Mutation_p.E148Q|SV2B_uc002bqu.3_RNA	p.E299Q	NM_014848	NP_055663	Q7L1I2	SV2B_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0895)		4	1286	+	Lung NSC(78;0.0987)|all_lung(78;0.172)		299			Cytoplasmic (Potential).		B4DH30|C6G489|O94840|Q6IAR8	Missense_Mutation	SNP	ENST00000394232.1	37	c.895G>C	CCDS10370.1	.	.	.	.	.	.	.	.	.	.	G	29.8	5.036529	0.93630	.	.	ENSG00000185518	ENST00000545111;ENST00000394232;ENST00000330276	T;T;T	0.68479	-0.33;-0.33;-0.33	5.29	5.29	0.74685	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	D	0.87529	0.6200	H	0.97023	3.925	0.80722	D	1	D	0.59767	0.986	D	0.65233	0.933	D	0.91615	0.5306	10	0.87932	D	0	-17.9867	17.8429	0.88720	0.0:0.0:1.0:0.0	.	299	Q7L1I2	SV2B_HUMAN	Q	148;299;299	ENSP00000443243:E148Q;ENSP00000377779:E299Q;ENSP00000332818:E299Q	ENSP00000332818:E299Q	E	+	1	0	SV2B	89602765	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	9.376000	0.97181	2.614000	0.88457	0.655000	0.94253	GAG		0.552	SV2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313494.3	NM_014848		9	121	0	0	0	0.006214	0	9	121				
OR4F6	390648	broad.mit.edu	37	15	102346129	102346129	+	Missense_Mutation	SNP	C	C	G			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr15:102346129C>G	ENST00000328882.4	+	1	228	c.207C>G	c.(205-207)atC>atG	p.I69M		NM_001005326.1	NP_001005326.1	Q8NGB9	OR4F6_HUMAN	olfactory receptor, family 4, subfamily F, member 6	69						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|large_intestine(1)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187)			TTTCCATCATCAATTTGGTAT	0.463																																							uc010utr.1		NA																	0				ovary(1)	1						c.(205-207)ATC>ATG		olfactory receptor, family 4, subfamily F,							293.0	278.0	283.0					15																	102346129		2203	4300	6503	SO:0001583	missense	390648				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr15:102346129C>G	AC025234	CCDS32341.1	15q26.3	2014-02-19	2002-02-28		ENSG00000184140	ENSG00000184140		"""GPCR / Class A : Olfactory receptors"""	15372	protein-coding gene	gene with protein product			"""olfactory receptor, family 4, subfamily F, member 12"""	OR4F12			Standard	NM_001005326		Approved		uc010utr.2	Q8NGB9	OTTHUMG00000172267	ENST00000328882.4:c.207C>G	15.37:g.102346129C>G	ENSP00000327525:p.Ile69Met						p.I69M	NM_001005326	NP_001005326	Q8NGB9	OR4F6_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187)		1	207	+	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		69			Helical; Name=2; (Potential).		B9EH28|Q6IF95	Missense_Mutation	SNP	ENST00000328882.4	37	c.207C>G	CCDS32341.1	.	.	.	.	.	.	.	.	.	.	.	2.687	-0.274126	0.05679	.	.	ENSG00000184140	ENST00000328882	T	0.03124	4.04	4.75	-4.24	0.03777	GPCR, rhodopsin-like superfamily (1);	0.933384	0.08983	N	0.865558	T	0.03178	0.0093	L	0.44542	1.39	0.22050	N	0.999391	B	0.32365	0.367	B	0.34346	0.18	T	0.39440	-0.9614	10	0.51188	T	0.08	.	1.5586	0.02589	0.1144:0.2315:0.2339:0.4202	.	69	Q8NGB9	OR4F6_HUMAN	M	69	ENSP00000327525:I69M	ENSP00000327525:I69M	I	+	3	3	OR4F6	100163652	0.000000	0.05858	0.003000	0.11579	0.000000	0.00434	-7.692000	0.00031	-0.869000	0.04052	-1.160000	0.01791	ATC		0.463	OR4F6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417593.1			10	331	0	0	0	0.001368	0	10	331				
RGS11	8786	broad.mit.edu	37	16	321090	321090	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr16:321090G>T	ENST00000397770.3	-	13	889	c.872C>A	c.(871-873)gCc>gAc	p.A291D	RGS11_ENST00000359740.5_Missense_Mutation_p.A280D|ARHGDIG_ENST00000464609.1_Intron|RGS11_ENST00000316163.5_Missense_Mutation_p.A270D			O94810	RGS11_HUMAN	regulator of G-protein signaling 11	291					G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|dendrite terminus (GO:0044292)|heterotrimeric G-protein complex (GO:0005834)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	G-protein beta-subunit binding (GO:0031681)|GTPase activator activity (GO:0005096)|signal transducer activity (GO:0004871)			endometrium(1)|kidney(1)|lung(4)|ovary(1)|pancreas(1)	8		all_cancers(16;6.71e-07)|all_epithelial(16;1.59e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00769)|all_lung(18;0.0186)				CTTCGTGGGGGCAGCCACCCT	0.701																																							uc002cgj.1		NA																	0				lung(1)|pancreas(1)	2						c.(871-873)GCC>GAC		regulator of G-protein signalling 11 isoform 1							10.0	15.0	13.0					16																	321090		2173	4254	6427	SO:0001583	missense	8786				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity	g.chr16:321090G>T	AF035153	CCDS10403.1, CCDS42088.1, CCDS66884.1	16p13.3	2008-07-28	2007-08-14		ENSG00000076344	ENSG00000076344		"""Regulators of G-protein signaling"""	9993	protein-coding gene	gene with protein product		603895	"""regulator of G-protein signalling 11"""			9789084	Standard	NM_001286486		Approved		uc002cgj.1	O94810	OTTHUMG00000064893	ENST00000397770.3:c.872C>A	16.37:g.321090G>T	ENSP00000380876:p.Ala291Asp					RGS11_uc002cgi.1_Missense_Mutation_p.A270D|RGS11_uc010bqs.1_Missense_Mutation_p.A280D|RGS11_uc002cgk.1_Missense_Mutation_p.A107D	p.A291D	NM_183337	NP_899180	O94810	RGS11_HUMAN			13	875	-		all_cancers(16;6.71e-07)|all_epithelial(16;1.59e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00769)|all_lung(18;0.0186)	291					O75883|Q4TT71|Q4TT72	Missense_Mutation	SNP	ENST00000397770.3	37	c.872C>A	CCDS42088.1	.	.	.	.	.	.	.	.	.	.	G	13.88	2.367934	0.42003	.	.	ENSG00000076344	ENST00000397770;ENST00000316163;ENST00000359740	T;T;T	0.29917	1.55;1.55;1.55	4.76	-4.0	0.04057	.	0.982886	0.08334	N	0.961861	T	0.19005	0.0456	N	0.17379	0.485	0.09310	N	1	B;B;B	0.33266	0.404;0.282;0.282	B;B;B	0.38755	0.281;0.126;0.126	T	0.39941	-0.9589	10	0.56958	D	0.05	-8.9368	6.8037	0.23766	0.4364:0.0:0.4532:0.1104	.	280;291;291	O94810-2;Q4TT70;O94810	.;.;RGS11_HUMAN	D	291;270;280	ENSP00000380876:A291D;ENSP00000319069:A270D;ENSP00000352778:A280D	ENSP00000319069:A270D	A	-	2	0	RGS11	261091	0.000000	0.05858	0.000000	0.03702	0.730000	0.41778	-0.001000	0.12947	-0.461000	0.06993	0.297000	0.19635	GCC		0.701	RGS11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139325.2			4	19	1	0	0.00116845	0.001168	0.00123451	4	19				
MSLN	10232	broad.mit.edu	37	16	814656	814656	+	Missense_Mutation	SNP	C	C	G			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr16:814656C>G	ENST00000382862.3	+	6	405	c.310C>G	c.(310-312)Ctg>Gtg	p.L104V	MSLN_ENST00000563941.1_Missense_Mutation_p.L104V|MSLN_ENST00000545450.2_Missense_Mutation_p.L104V|MSLN_ENST00000566549.1_Missense_Mutation_p.L104V	NM_013404.4	NP_037536.2	Q13421	MSLN_HUMAN	mesothelin	104					cell adhesion (GO:0007155)|pancreas development (GO:0031016)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(2)|kidney(2)|lung(11)|pancreas(1)|prostate(1)|skin(3)	20		Hepatocellular(780;0.00335)				GCTGCGCTGTCTGGCTCACCG	0.677																																							uc002cjw.1		NA																	0				pancreas(1)	1						c.(310-312)CTG>GTG		mesothelin isoform 2 preproprotein							81.0	91.0	88.0					16																	814656		2199	4292	6491	SO:0001583	missense	10232				cell adhesion	anchored to membrane|extracellular region|Golgi apparatus|plasma membrane		g.chr16:814656C>G	U40434	CCDS32356.1, CCDS45370.1	16p13.3	2008-04-16			ENSG00000102854	ENSG00000102854			7371	protein-coding gene	gene with protein product		601051				7665620, 8552591	Standard	NM_005823		Approved	CAK1, MPF	uc002cjw.2	Q13421	OTTHUMG00000047992	ENST00000382862.3:c.310C>G	16.37:g.814656C>G	ENSP00000372313:p.Leu104Val					MSLN_uc002cjt.1_Missense_Mutation_p.L104V|MSLN_uc002cju.1_Missense_Mutation_p.L104V|MSLN_uc010brd.1_Missense_Mutation_p.L103V|MSLN_uc002cjv.1_Missense_Mutation_p.L104V|MSLN_uc002cjx.1_Missense_Mutation_p.L104V|MSLN_uc002cjy.1_5'Flank	p.L104V	NM_013404	NP_037536	Q13421	MSLN_HUMAN			6	361	+		Hepatocellular(780;0.00335)	104					D3DU65|Q14859|Q4VQD5|Q96GR6|Q96KJ5|Q9BR17|Q9BTR2|Q9UCB2|Q9UK57	Missense_Mutation	SNP	ENST00000382862.3	37	c.310C>G	CCDS32356.1	.	.	.	.	.	.	.	.	.	.	C	11.96	1.794736	0.31777	.	.	ENSG00000102854	ENST00000446427;ENST00000445361;ENST00000545450;ENST00000382862	T;T	0.18960	2.18;2.18	2.54	1.56	0.23342	.	0.084915	0.46442	U	0.000298	T	0.34716	0.0907	L	0.59436	1.845	0.29057	N	0.884148	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.83275	0.994;0.996;0.992;0.994	T	0.12630	-1.0540	10	0.72032	D	0.01	-7.3946	4.9761	0.14142	0.0:0.8164:0.0:0.1836	.	103;104;104;104	Q13421-4;Q13421;Q13421-2;Q13421-3	.;MSLN_HUMAN;.;.	V	104	ENSP00000442965:L104V;ENSP00000372313:L104V	ENSP00000372313:L104V	L	+	1	2	MSLN	754657	0.009000	0.17119	0.970000	0.41538	0.390000	0.30446	1.450000	0.35134	0.254000	0.21573	0.561000	0.74099	CTG		0.677	MSLN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000109253.2			27	267	0	0	0	0.009535	0	27	267				
SOX8	30812	broad.mit.edu	37	16	1035263	1035263	+	Silent	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr16:1035263C>A	ENST00000293894.3	+	3	1333	c.1218C>A	c.(1216-1218)ccC>ccA	p.P406P		NM_014587.3	NP_055402.2	P57073	SOX8_HUMAN	SRY (sex determining region Y)-box 8	406					adipose tissue development (GO:0060612)|astrocyte fate commitment (GO:0060018)|cell fate commitment (GO:0045165)|cell maturation (GO:0048469)|enteric nervous system development (GO:0048484)|fat cell differentiation (GO:0045444)|in utero embryonic development (GO:0001701)|male gonad development (GO:0008584)|metanephric nephron tubule formation (GO:0072289)|morphogenesis of a branching epithelium (GO:0061138)|negative regulation of apoptotic process (GO:0043066)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of transcription, DNA-templated (GO:0045892)|neural crest cell migration (GO:0001755)|oligodendrocyte differentiation (GO:0048709)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of gliogenesis (GO:0014015)|positive regulation of kidney development (GO:0090184)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of hormone levels (GO:0010817)|renal vesicle induction (GO:0072034)|retina development in camera-type eye (GO:0060041)|retinal rod cell differentiation (GO:0060221)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|skeletal muscle cell differentiation (GO:0035914)|spermatogenesis (GO:0007283)|ureter morphogenesis (GO:0072197)	cytoplasm (GO:0005737)|nuclear transcription factor complex (GO:0044798)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			central_nervous_system(1)|kidney(1)|lung(5)|prostate(2)|skin(1)	10		Hepatocellular(780;0.00308)				ACCAGTACCCCTGCTTCCACT	0.711																																							uc002ckn.2		NA																	0				central_nervous_system(1)|skin(1)	2						c.(1216-1218)CCC>CCA		SRY (sex determining region Y)-box 8							21.0	22.0	22.0					16																	1035263		2196	4286	6482	SO:0001819	synonymous_variant	30812				adipose tissue development|enteric nervous system development|fat cell differentiation|in utero embryonic development|metanephric nephron tubule formation|morphogenesis of a branching epithelium|negative regulation of apoptosis|negative regulation of myoblast differentiation|negative regulation of transcription, DNA-dependent|neural crest cell migration|oligodendrocyte differentiation|osteoblast differentiation|peripheral nervous system development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of gliogenesis|positive regulation of osteoblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of hormone levels|renal vesicle induction|retinal rod cell differentiation|Sertoli cell development|signal transduction|spermatogenesis|ureter morphogenesis	cytoplasm|nucleus		g.chr16:1035263C>A	AF164104	CCDS10428.1	16p13.3	2008-05-23			ENSG00000005513	ENSG00000005513		"""SRY (sex determining region Y)-boxes"""	11203	protein-coding gene	gene with protein product		605923				10662550, 10684944	Standard	NM_014587		Approved		uc002ckn.3	P57073	OTTHUMG00000122101	ENST00000293894.3:c.1218C>A	16.37:g.1035263C>A							p.P406P	NM_014587	NP_055402	P57073	SOX8_HUMAN			3	1333	+		Hepatocellular(780;0.00308)	406					Q9NZW2	Silent	SNP	ENST00000293894.3	37	c.1218C>A	CCDS10428.1																																																																																				0.711	SOX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000242867.1			27	31	1	0	1.06647e-15	0.003755	1.44828e-15	27	31				
ABCA3	21	broad.mit.edu	37	16	2369608	2369608	+	Missense_Mutation	SNP	C	C	G	rs530557022		TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr16:2369608C>G	ENST00000301732.5	-	8	1547	c.847G>C	c.(847-849)Gtg>Ctg	p.V283L	ABCA3_ENST00000382381.3_Missense_Mutation_p.V283L	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3	283					response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)	alveolar lamellar body (GO:0097208)|alveolar lamellar body membrane (GO:0097233)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)			Imatinib(DB00619)	TTCTCCTGCACGACAGCACGG	0.612																																							uc002cpy.1		NA																	0				breast(5)|ovary(5)|central_nervous_system(3)|upper_aerodigestive_tract(1)|lung(1)|skin(1)	16						c.(847-849)GTG>CTG		ATP-binding cassette, sub-family A member 3							77.0	70.0	72.0					16																	2369608		2198	4300	6498	SO:0001583	missense	21				response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:2369608C>G	U78735	CCDS10466.1	16p13.3	2012-03-14			ENSG00000167972	ENSG00000167972		"""ATP binding cassette transporters / subfamily A"""	33	protein-coding gene	gene with protein product		601615		ABC3		8706931	Standard	NM_001089		Approved	ABC-C, EST111653, LBM180	uc002cpy.1	Q99758	OTTHUMG00000128845	ENST00000301732.5:c.847G>C	16.37:g.2369608C>G	ENSP00000301732:p.Val283Leu					ABCA3_uc010bsk.1_Missense_Mutation_p.V283L|ABCA3_uc010bsl.1_Missense_Mutation_p.V283L	p.V283L	NM_001089	NP_001080	Q99758	ABCA3_HUMAN			8	1559	-		Ovarian(90;0.17)	283			Helical; (Potential).		B2RU09|Q54A95|Q6P5P9|Q92473	Missense_Mutation	SNP	ENST00000301732.5	37	c.847G>C	CCDS10466.1	.	.	.	.	.	.	.	.	.	.	C	18.54	3.645800	0.67358	.	.	ENSG00000167972	ENST00000301732;ENST00000382381	D	0.88354	-2.37	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	D	0.92903	0.7742	L	0.58925	1.835	0.80722	D	1	P;P;P	0.47191	0.781;0.888;0.891	P;P;P	0.61800	0.613;0.894;0.78	D	0.92489	0.5999	10	0.51188	T	0.08	.	18.1769	0.89764	0.0:1.0:0.0:0.0	.	283;345;283	A7MBM9;Q4LE27;Q99758	.;.;ABCA3_HUMAN	L	283;345	ENSP00000301732:V283L	ENSP00000301732:V283L	V	-	1	0	ABCA3	2309609	1.000000	0.71417	0.986000	0.45419	0.002000	0.02628	7.532000	0.81985	2.640000	0.89533	0.650000	0.86243	GTG		0.612	ABCA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250784.2	NM_001089		10	99	0	0	0	0.000978	0	10	99				
PDPK1	5170	broad.mit.edu	37	16	2647754	2647754	+	Missense_Mutation	SNP	G	G	C			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr16:2647754G>C	ENST00000342085.4	+	14	1806	c.1657G>C	c.(1657-1659)Gcc>Ccc	p.A553P	CTD-3126B10.1_ENST00000562166.1_RNA|PDPK1_ENST00000441549.3_3'UTR|PDPK1_ENST00000268673.7_Missense_Mutation_p.A426P|PDPK1_ENST00000389224.3_Missense_Mutation_p.A526P|PDPK1_ENST00000354836.5_Missense_Mutation_p.A529P	NM_002613.4	NP_002604.1	O15530	PDPK1_HUMAN	3-phosphoinositide dependent protein kinase 1	553					actin cytoskeleton organization (GO:0030036)|activation of protein kinase B activity (GO:0032148)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|cell migration (GO:0016477)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to insulin stimulus (GO:0032869)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway (GO:0097191)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|focal adhesion assembly (GO:0048041)|hyperosmotic response (GO:0006972)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|intracellular signal transduction (GO:0035556)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-threonine phosphorylation (GO:0018107)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of endothelial cell migration (GO:0010594)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of mast cell degranulation (GO:0043304)|regulation of transcription, DNA-templated (GO:0006355)|synaptic transmission (GO:0007268)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|transcription, DNA-templated (GO:0006351)|type B pancreatic cell development (GO:0003323)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	3-phosphoinositide-dependent protein kinase activity (GO:0004676)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phospholipase activator activity (GO:0016004)|phospholipase binding (GO:0043274)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)	7		Ovarian(90;0.17)			Celecoxib(DB00482)	CCACCCGGACGCCGCTGTGCA	0.657																																							uc002cqs.2		NA																	0				central_nervous_system(2)|ovary(1)	3						c.(1657-1659)GCC>CCC		3-phosphoinositide dependent protein kinase-1	Celecoxib(DB00482)						63.0	52.0	55.0					16																	2647754		2198	4300	6498	SO:0001583	missense	5170				actin cytoskeleton organization|activation of protein kinase B activity|insulin receptor signaling pathway|negative regulation of protein kinase activity|nerve growth factor receptor signaling pathway|peptidyl-threonine phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|synaptic transmission|T cell costimulation|T cell receptor signaling pathway	cytosol|nucleoplasm|plasma membrane	3-phosphoinositide-dependent protein kinase activity|ATP binding	g.chr16:2647754G>C	AF017995	CCDS10472.1, CCDS10473.1, CCDS58411.1	16p13.3	2014-03-20	2014-03-20		ENSG00000140992	ENSG00000140992			8816	protein-coding gene	gene with protein product	"""PkB kinase"""	605213				9094314, 9445477	Standard	NM_002613		Approved	PDK1	uc002cqs.4	O15530	OTTHUMG00000128874	ENST00000342085.4:c.1657G>C	16.37:g.2647754G>C	ENSP00000344220:p.Ala553Pro					PDPK1_uc002cqt.2_Missense_Mutation_p.A426P|PDPK1_uc010bsn.2_3'UTR|PDPK1_uc002cqu.2_Missense_Mutation_p.A526P	p.A553P	NM_002613	NP_002604	O15530	PDPK1_HUMAN			14	1801	+		Ovarian(90;0.17)	553					H0Y4Z0|Q59EH6|Q6FI20|Q8IV52|Q9BRD5	Missense_Mutation	SNP	ENST00000342085.4	37	c.1657G>C	CCDS10472.1	.	.	.	.	.	.	.	.	.	.	-	8.439	0.850427	0.17034	.	.	ENSG00000140992	ENST00000342085;ENST00000268673;ENST00000354836;ENST00000389224	T;T;T;T	0.72051	-0.61;0.96;-0.11;-0.62	5.0	4.04	0.47022	Pleckstrin homology-type (1);	0.430714	0.23083	U	0.052132	T	0.45518	0.1346	N	0.04508	-0.205	0.21762	N	0.999552	B;B	0.06786	0.001;0.001	B;B	0.04013	0.0;0.001	T	0.31806	-0.9930	10	0.46703	T	0.11	-3.9506	8.1196	0.30963	0.1805:0.0:0.8195:0.0	.	426;553	O15530-4;O15530	.;PDPK1_HUMAN	P	553;426;529;526	ENSP00000344220:A553P;ENSP00000268673:A426P;ENSP00000346895:A529P;ENSP00000373876:A526P	ENSP00000268673:A426P	A	+	1	0	PDPK1	2587755	0.701000	0.27806	0.026000	0.17262	0.062000	0.15995	1.810000	0.38932	2.305000	0.77605	0.563000	0.77884	GCC		0.657	PDPK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250831.3			7	35	0	0	0	0.008291	0	7	35				
NMRAL1	57407	broad.mit.edu	37	16	4511851	4511851	+	Missense_Mutation	SNP	C	C	G			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr16:4511851C>G	ENST00000574733.1	-	6	1559	c.830G>C	c.(829-831)aGa>aCa	p.R277T	NMRAL1_ENST00000404295.3_Missense_Mutation_p.R277T|NMRAL1_ENST00000574425.1_Missense_Mutation_p.R277T|NMRAL1_ENST00000283429.6_Missense_Mutation_p.R277T|NMRAL1_ENST00000572391.1_5'Flank			Q9HBL8	NMRL1_HUMAN	NmrA-like family domain containing 1	277						cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|prostate(2)|stomach(1)	15						GGGGTTGAGTCTCAGGGTCAG	0.617																																							uc002cwm.2		NA																	0				kidney(1)	1						c.(829-831)AGA>ACA		NmrA-like family domain containing 1							136.0	131.0	132.0					16																	4511851		2197	4300	6497	SO:0001583	missense	57407					nucleus|perinuclear region of cytoplasm	binding	g.chr16:4511851C>G	AF225419	CCDS10516.1	16p13.3	2013-10-11			ENSG00000153406	ENSG00000153406		"""Short chain dehydrogenase/reductase superfamily / Atypical members"""	24987	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 48A, member 1"""					19027726	Standard	NM_020677		Approved	FLJ25918, HSCARG, SDR48A1	uc002cwo.3	Q9HBL8	OTTHUMG00000129468	ENST00000574733.1:c.830G>C	16.37:g.4511851C>G	ENSP00000458762:p.Arg277Thr					NMRAL1_uc002cwn.2_Missense_Mutation_p.R277T|NMRAL1_uc002cwo.2_Missense_Mutation_p.R277T|NMRAL1_uc002cwp.2_Missense_Mutation_p.R313T	p.R277T	NM_020677	NP_065728	Q9HBL8	NMRL1_HUMAN			6	986	-			277						Missense_Mutation	SNP	ENST00000574733.1	37	c.830G>C	CCDS10516.1	.	.	.	.	.	.	.	.	.	.	C	8.724	0.914948	0.17907	.	.	ENSG00000153406	ENST00000283429;ENST00000404295	T;T	0.28895	1.59;1.59	5.6	-0.324	0.12706	.	0.338132	0.31685	N	0.007234	T	0.18045	0.0433	L	0.31926	0.97	0.32086	N	0.592535	B	0.20988	0.05	B	0.15484	0.013	T	0.13575	-1.0504	10	0.27785	T	0.31	-7.6037	7.5053	0.27540	0.0:0.3767:0.0:0.6233	.	277	Q9HBL8	NMRL1_HUMAN	T	277	ENSP00000283429:R277T;ENSP00000383962:R277T	ENSP00000283429:R277T	R	-	2	0	NMRAL1	4451852	0.007000	0.16637	0.855000	0.33649	0.026000	0.11368	-0.065000	0.11617	0.071000	0.16664	-0.258000	0.10820	AGA		0.617	NMRAL1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438579.1	NM_020677		24	166	0	0	0	0.009535	0	24	166				
NMRAL1	57407	broad.mit.edu	37	16	4511958	4511958	+	Missense_Mutation	SNP	C	C	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr16:4511958C>T	ENST00000574733.1	-	6	1452	c.723G>A	c.(721-723)atG>atA	p.M241I	NMRAL1_ENST00000404295.3_Missense_Mutation_p.M241I|NMRAL1_ENST00000574425.1_Missense_Mutation_p.M241I|NMRAL1_ENST00000283429.6_Missense_Mutation_p.M241I|NMRAL1_ENST00000572391.1_5'Flank			Q9HBL8	NMRL1_HUMAN	NmrA-like family domain containing 1	241						cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|prostate(2)|stomach(1)	15						CCTCAGGAGTCATCTGGAAGC	0.652																																							uc002cwm.2		NA																	0				kidney(1)	1						c.(721-723)ATG>ATA		NmrA-like family domain containing 1							71.0	74.0	73.0					16																	4511958		2197	4300	6497	SO:0001583	missense	57407					nucleus|perinuclear region of cytoplasm	binding	g.chr16:4511958C>T	AF225419	CCDS10516.1	16p13.3	2013-10-11			ENSG00000153406	ENSG00000153406		"""Short chain dehydrogenase/reductase superfamily / Atypical members"""	24987	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 48A, member 1"""					19027726	Standard	NM_020677		Approved	FLJ25918, HSCARG, SDR48A1	uc002cwo.3	Q9HBL8	OTTHUMG00000129468	ENST00000574733.1:c.723G>A	16.37:g.4511958C>T	ENSP00000458762:p.Met241Ile					NMRAL1_uc002cwn.2_Missense_Mutation_p.M241I|NMRAL1_uc002cwo.2_Missense_Mutation_p.M241I|NMRAL1_uc002cwp.2_Missense_Mutation_p.M277I	p.M241I	NM_020677	NP_065728	Q9HBL8	NMRL1_HUMAN			6	879	-			241						Missense_Mutation	SNP	ENST00000574733.1	37	c.723G>A	CCDS10516.1	.	.	.	.	.	.	.	.	.	.	C	11.70	1.717608	0.30413	.	.	ENSG00000153406	ENST00000283429;ENST00000404295	T;T	0.25749	1.78;1.78	5.7	-6.68	0.01778	.	0.468629	0.23121	N	0.051684	T	0.07908	0.0198	N	0.11131	0.1	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.39313	-0.9620	10	0.02654	T	1	-0.5717	10.1619	0.42858	0.0:0.4158:0.4214:0.1629	.	241	Q9HBL8	NMRL1_HUMAN	I	241	ENSP00000283429:M241I;ENSP00000383962:M241I	ENSP00000283429:M241I	M	-	3	0	NMRAL1	4451959	0.030000	0.19436	0.663000	0.29738	0.453000	0.32348	-0.876000	0.04201	-0.740000	0.04803	-1.080000	0.02220	ATG		0.652	NMRAL1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438579.1	NM_020677		17	106	0	0	0	0.007413	0	17	106				
GLYR1	84656	broad.mit.edu	37	16	4882010	4882010	+	Silent	SNP	C	C	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr16:4882010C>T	ENST00000321919.9	-	5	583	c.507G>A	c.(505-507)cgG>cgA	p.R169R	GLYR1_ENST00000436648.5_Intron|GLYR1_ENST00000591451.1_Silent_p.R169R|GLYR1_ENST00000586901.1_5'UTR|GLYR1_ENST00000381983.3_Silent_p.R169R	NM_032569.3	NP_115958	Q49A26	GLYR1_HUMAN	glyoxylate reductase 1 homolog (Arabidopsis)	169					pentose-phosphate shunt (GO:0006098)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	DNA binding (GO:0003677)|methylated histone binding (GO:0035064)|NAD binding (GO:0051287)|phosphogluconate dehydrogenase (decarboxylating) activity (GO:0004616)			endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	19						GACCCCGCTTCCGGGGACTTT	0.498																																							uc002cxx.3		NA																	0					0						c.(505-507)CGG>CGA		cytokine-like nuclear factor n-pac							49.0	55.0	53.0					16																	4882010		2197	4300	6497	SO:0001819	synonymous_variant	84656				pentose-phosphate shunt	nucleus	coenzyme binding|DNA binding|methylated histone residue binding|phosphogluconate dehydrogenase (decarboxylating) activity	g.chr16:4882010C>T	AF244907	CCDS10524.1	16p13.3	2010-02-17			ENSG00000140632	ENSG00000140632			24434	protein-coding gene	gene with protein product	"""nuclear protein 60kDa"""	610660				16352664	Standard	NM_032569		Approved	BM045, HIBDL, NP60, N-PAC	uc002cxx.4	Q49A26	OTTHUMG00000129530	ENST00000321919.9:c.507G>A	16.37:g.4882010C>T						GLYR1_uc002cxy.2_RNA|GLYR1_uc002cxz.1_Silent_p.R100R|GLYR1_uc002cya.2_Silent_p.R169R|GLYR1_uc010uxv.1_Intron	p.R169R	NM_032569	NP_115958	Q49A26	GLYR1_HUMAN			5	544	-			169			A.T hook.		B4DL47|C9JJ40|C9JJ60|Q5U632|Q6P1Q2|Q6V3W7|Q9BTI1|Q9BXK2	Silent	SNP	ENST00000321919.9	37	c.507G>A	CCDS10524.1																																																																																				0.498	GLYR1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251717.2	NM_032569		9	50	0	0	0	0.006214	0	9	50				
USP7	7874	broad.mit.edu	37	16	8993541	8993541	+	Missense_Mutation	SNP	C	C	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr16:8993541C>T	ENST00000344836.4	-	22	2581	c.2383G>A	c.(2383-2385)Gat>Aat	p.D795N	USP7_ENST00000535863.1_Missense_Mutation_p.D696N|USP7_ENST00000381886.4_Missense_Mutation_p.D779N	NM_003470.2	NP_003461.2	Q93009	UBP7_HUMAN	ubiquitin specific peptidase 7 (herpes virus-associated)	795	Interaction with ICP0/VMW110.				maintenance of DNA methylation (GO:0010216)|multicellular organismal development (GO:0007275)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|protein deubiquitination (GO:0016579)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|transcription-coupled nucleotide-excision repair (GO:0006283)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|p53 binding (GO:0002039)|protein C-terminus binding (GO:0008022)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(13)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	48						AAAATGACATCAACGCGGTGG	0.388																																							uc002czl.2		NA																	0				ovary(3)	3						c.(2383-2385)GAT>AAT		ubiquitin specific peptidase 7							152.0	139.0	143.0					16																	8993541		2197	4300	6497	SO:0001583	missense	7874				interspecies interaction between organisms|multicellular organismal development|protein deubiquitination|regulation of sequence-specific DNA binding transcription factor activity|ubiquitin-dependent protein catabolic process	cytoplasm|PML body	cysteine-type endopeptidase activity|p53 binding|protein C-terminus binding|transcription factor binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr16:8993541C>T	Z72499	CCDS32385.1, CCDS66941.1	16p13.3	2008-04-11	2005-08-08			ENSG00000187555		"""Ubiquitin-specific peptidases"""	12630	protein-coding gene	gene with protein product		602519	"""ubiquitin specific protease 7 (herpes virus-associated)"""	HAUSP		12838346, 9925944	Standard	NM_003470		Approved		uc002czl.2	Q93009		ENST00000344836.4:c.2383G>A	16.37:g.8993541C>T	ENSP00000343535:p.Asp795Asn					USP7_uc010uyk.1_Missense_Mutation_p.D696N|USP7_uc002czj.2_RNA|USP7_uc010uyj.1_Missense_Mutation_p.D696N|USP7_uc002czk.2_Missense_Mutation_p.D779N	p.D795N	NM_003470	NP_003461	Q93009	UBP7_HUMAN			22	2582	-			795			Interaction with ICP0/VMW110.		A6NMY8|B7Z815|H0Y3G8	Missense_Mutation	SNP	ENST00000344836.4	37	c.2383G>A	CCDS32385.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.582578	0.86748	.	.	ENSG00000187555	ENST00000344836;ENST00000381886;ENST00000535863;ENST00000544549	T;T	0.06371	3.31;3.31	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	T	0.07683	0.0193	L	0.47716	1.5	0.80722	D	1	P;P	0.42785	0.79;0.79	B;B	0.34722	0.188;0.188	T	0.42050	-0.9474	10	0.20046	T	0.44	.	19.7815	0.96417	0.0:1.0:0.0:0.0	.	795;779	Q93009;B7Z815	UBP7_HUMAN;.	N	795;803;696;696	ENSP00000343535:D795N;ENSP00000443646:D696N	ENSP00000343535:D795N	D	-	1	0	USP7	8901042	1.000000	0.71417	0.953000	0.39169	0.939000	0.58152	7.524000	0.81866	2.674000	0.91012	0.555000	0.69702	GAT		0.388	USP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434268.2			14	98	0	0	0	0.001855	0	14	98				
GRIN2A	2903	broad.mit.edu	37	16	9928037	9928037	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr16:9928037C>A	ENST00000396573.2	-	9	2011	c.1702G>T	c.(1702-1704)Gtt>Ttt	p.V568F	GRIN2A_ENST00000535259.1_Missense_Mutation_p.V411F|GRIN2A_ENST00000396575.2_Missense_Mutation_p.V568F|GRIN2A_ENST00000330684.3_Missense_Mutation_p.V568F|GRIN2A_ENST00000404927.2_Missense_Mutation_p.V568F|GRIN2A_ENST00000562109.1_Missense_Mutation_p.V568F	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	568					directional locomotion (GO:0033058)|dopamine metabolic process (GO:0042417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning or memory (GO:0007611)|memory (GO:0007613)|negative regulation of protein catabolic process (GO:0042177)|neurogenesis (GO:0022008)|positive regulation of apoptotic process (GO:0043065)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic plasticity (GO:0048167)|response to amphetamine (GO:0001975)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to wounding (GO:0009611)|sensory perception of pain (GO:0019233)|serotonin metabolic process (GO:0042428)|sleep (GO:0030431)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)|visual learning (GO:0008542)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	ATGGCAGAAACAATGAGCAGC	0.418																																							uc002czo.3		NA																	0				skin(32)|NS(5)|ovary(4)|large_intestine(1)|lung(1)|breast(1)|kidney(1)	45						c.(1702-1704)GTT>TTT		N-methyl-D-aspartate receptor subunit 2A isoform	Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						157.0	148.0	151.0					16																	9928037		2197	4300	6497	SO:0001583	missense	2903				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr16:9928037C>A		CCDS10539.1, CCDS45407.1	16p13.2	2012-08-29			ENSG00000183454	ENSG00000183454		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4585	protein-coding gene	gene with protein product		138253		NMDAR2A		9480759	Standard	XM_005255267		Approved	GluN2A	uc002czo.4	Q12879	OTTHUMG00000129721	ENST00000396573.2:c.1702G>T	16.37:g.9928037C>A	ENSP00000379818:p.Val568Phe					GRIN2A_uc010uym.1_Missense_Mutation_p.V568F|GRIN2A_uc010uyn.1_Missense_Mutation_p.V411F|GRIN2A_uc002czr.3_Missense_Mutation_p.V568F	p.V568F	NM_001134407	NP_001127879	Q12879	NMDE1_HUMAN			8	2250	-			568			Helical; (Potential).		O00669|Q17RZ6	Missense_Mutation	SNP	ENST00000396573.2	37	c.1702G>T	CCDS10539.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.619966	0.87460	.	.	ENSG00000183454	ENST00000396573;ENST00000404927;ENST00000535259;ENST00000330684;ENST00000396575	T;T;T;T;T	0.59906	0.23;0.23;0.23;0.23;0.23	4.66	4.66	0.58398	Extracellular solute-binding protein, family 3 (1);Ionotropic glutamate receptor (2);	0.058260	0.64402	D	0.000002	T	0.73202	0.3557	M	0.64260	1.97	0.80722	D	1	D;D;D	0.76494	0.997;0.998;0.999	D;D;D	0.87578	0.981;0.989;0.998	T	0.73607	-0.3929	9	.	.	.	.	16.9103	0.86139	0.0:1.0:0.0:0.0	.	411;568;568	F5GZ52;Q17RZ6;Q12879	.;.;NMDE1_HUMAN	F	568;568;411;568;568	ENSP00000379818:V568F;ENSP00000385872:V568F;ENSP00000441572:V411F;ENSP00000332549:V568F;ENSP00000379820:V568F	.	V	-	1	0	GRIN2A	9835538	0.994000	0.37717	0.543000	0.28128	0.998000	0.95712	3.176000	0.50863	2.295000	0.77249	0.557000	0.71058	GTT		0.418	GRIN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251930.3			16	103	1	0	8.00594e-06	0.007413	8.95565e-06	16	103				
PDXDC1	23042	broad.mit.edu	37	16	15095657	15095657	+	Silent	SNP	C	C	G			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr16:15095657C>G	ENST00000396410.4	+	4	283	c.186C>G	c.(184-186)ctC>ctG	p.L62L	PDXDC1_ENST00000455313.2_Silent_p.L62L|PDXDC1_ENST00000450288.2_Intron|PDXDC1_ENST00000569715.1_Intron|PDXDC1_ENST00000535621.2_Silent_p.L62L|PDXDC1_ENST00000447912.2_Intron|PDXDC1_ENST00000325823.7_Silent_p.L47L|PDXDC1_ENST00000563679.1_Silent_p.L80L	NM_015027.2	NP_055842.2	Q6P996	PDXD1_HUMAN	pyridoxal-dependent decarboxylase domain containing 1	62					carboxylic acid metabolic process (GO:0019752)	Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)	carboxy-lyase activity (GO:0016831)|pyridoxal phosphate binding (GO:0030170)			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(10)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TGAGCATCCTCCAGTTAGTTC	0.498																																							uc002dda.3		NA																	0				skin(1)	1						c.(184-186)CTC>CTG		pyridoxal-dependent decarboxylase domain	Pyridoxal Phosphate(DB00114)						64.0	62.0	63.0					16																	15095657		2197	4300	6497	SO:0001819	synonymous_variant	23042				carboxylic acid metabolic process		carboxy-lyase activity|protein binding|pyridoxal phosphate binding	g.chr16:15095657C>G	AK025504, BX647809	CCDS32393.1, CCDS66954.1, CCDS66957.1, CCDS73830.1, CCDS73831.1	16p13.11	2008-02-05							28995	protein-coding gene	gene with protein product		614244					Standard	XM_005255173		Approved	KIAA0251	uc002dda.4	Q6P996	OTTHUMG00000166304	ENST00000396410.4:c.186C>G	16.37:g.15095657C>G						PDXDC1_uc010uzl.1_Silent_p.L47L|PDXDC1_uc010uzm.1_Intron|PDXDC1_uc010bvc.1_5'UTR|PDXDC1_uc002dcz.2_Silent_p.L62L|PDXDC1_uc002ddb.3_Intron|PDXDC1_uc010uzn.1_Intron|PDXDC1_uc002ddc.2_Silent_p.L62L	p.L62L	NM_015027	NP_055842	Q6P996	PDXD1_HUMAN			4	410	+			62					B4DR55|B4DSL3|E7EMH5|E7EPL4|H3BNZ1|O00236|Q4F6X7|Q6PID7|Q86YF1|Q8N4Q9|Q8TBS5	Silent	SNP	ENST00000396410.4	37	c.186C>G	CCDS32393.1																																																																																				0.498	PDXDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389065.2	NM_015027		4	30	0	0	0	0.000602	0	4	30				
MYH11	4629	broad.mit.edu	37	16	15829353	15829353	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr16:15829353C>A	ENST00000300036.5	-	26	3485	c.3376G>T	c.(3376-3378)Gac>Tac	p.D1126Y	AF001548.5_ENST00000574212.1_RNA|MYH11_ENST00000576790.2_Missense_Mutation_p.D1126Y|MYH11_ENST00000396324.3_Missense_Mutation_p.D1133Y|MYH11_ENST00000452625.2_Missense_Mutation_p.D1133Y	NM_002474.2	NP_002465.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	1126					axon guidance (GO:0007411)|cardiac muscle fiber development (GO:0048739)|elastic fiber assembly (GO:0048251)|muscle contraction (GO:0006936)|skeletal muscle myosin thick filament assembly (GO:0030241)|smooth muscle contraction (GO:0006939)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|smooth muscle contractile fiber (GO:0030485)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|motor activity (GO:0003774)|structural constituent of muscle (GO:0008307)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						GAGTCCAGGTCCTCCTGGAGG	0.582			T	CBFB	AML																																		uc002ddy.2		NA		Dom	yes		16	16p13.13-p13.12	4629	T	"""myosin, heavy polypeptide 11, smooth muscle"""			L	CBFB		AML		0				ovary(6)|skin(3)|lung(2)|breast(2)|upper_aerodigestive_tract(1)|pancreas(1)	15						c.(3376-3378)GAC>TAC		smooth muscle myosin heavy chain 11 isoform							120.0	115.0	117.0					16																	15829353		2197	4300	6497	SO:0001583	missense	4629				axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	g.chr16:15829353C>A	X69292	CCDS10565.1, CCDS10566.1, CCDS45423.1, CCDS45424.1	16p13.11	2011-09-27	2006-09-29		ENSG00000133392	ENSG00000133392		"""Myosins / Myosin superfamily : Class II"""	7569	protein-coding gene	gene with protein product		160745	"""myosin, heavy polypeptide 11, smooth muscle"""			7684189	Standard	NM_001040113		Approved	SMMHC, SMHC	uc002ddx.3	P35749	OTTHUMG00000129935	ENST00000300036.5:c.3376G>T	16.37:g.15829353C>A	ENSP00000300036:p.Asp1126Tyr					MYH11_uc002ddv.2_Missense_Mutation_p.D1133Y|MYH11_uc002ddw.2_Missense_Mutation_p.D1126Y|MYH11_uc002ddx.2_Missense_Mutation_p.D1133Y|MYH11_uc010bvg.2_Missense_Mutation_p.D958Y	p.D1126Y	NM_002474	NP_002465	P35749	MYH11_HUMAN			26	3483	-			1126			Potential.		D2JYH7|O00396|O94944|P78422|Q3MIV8|Q3MNF0|Q3MNF1	Missense_Mutation	SNP	ENST00000300036.5	37	c.3376G>T	CCDS10565.1	.	.	.	.	.	.	.	.	.	.	C	28.3	4.910767	0.92178	.	.	ENSG00000133392	ENST00000300036;ENST00000338282;ENST00000396320;ENST00000396324;ENST00000452625	D;D;D;D	0.83419	-1.72;-1.72;-1.72;-1.72	5.51	5.51	0.81932	Myosin tail (1);	0.000000	0.85682	D	0.000000	D	0.92721	0.7686	M	0.88906	2.99	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	0.83275	0.996;0.996;0.996;0.996;0.996	D	0.93740	0.7049	10	0.87932	D	0	.	18.4136	0.90561	0.0:1.0:0.0:0.0	.	1133;1126;1133;1126;1133	B1PS43;P35749;Q3MNF1;Q3MIV8;Q3MNF0	.;MYH11_HUMAN;.;.;.	Y	1126;1126;1133;1133;1133	ENSP00000300036:D1126Y;ENSP00000345136:D1126Y;ENSP00000379616:D1133Y;ENSP00000407821:D1133Y	ENSP00000300036:D1126Y	D	-	1	0	MYH11	15736854	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	7.701000	0.84566	2.593000	0.87608	0.442000	0.29010	GAC		0.582	MYH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252192.2	NM_001040113		17	151	1	0	3.10358e-05	0.002299	3.42242e-05	17	151				
DNAH3	55567	broad.mit.edu	37	16	21080738	21080738	+	Missense_Mutation	SNP	C	C	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr16:21080738C>T	ENST00000261383.3	-	23	3378	c.3379G>A	c.(3379-3381)Gcg>Acg	p.A1127T	DNAH3_ENST00000415178.1_Missense_Mutation_p.A1127T	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1127	Stem. {ECO:0000250}.				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)|microtubule motor activity (GO:0003777)			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		AAACTTACCGCTTGGGACATA	0.393																																							uc010vbe.1		NA																	0				ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	18						c.(3379-3381)GCG>ACG		dynein, axonemal, heavy chain 3							121.0	112.0	115.0					16																	21080738		2201	4300	6501	SO:0001583	missense	55567				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr16:21080738C>T	U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"""Axonemal dyneins"""	2949	protein-coding gene	gene with protein product		603334	"""dynein, axonemal, heavy polypeptide 3"""			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.3379G>A	16.37:g.21080738C>T	ENSP00000261383:p.Ala1127Thr						p.A1127T	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN		GBM - Glioblastoma multiforme(48;0.207)	23	3379	-			1127			Stem (By similarity).		O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Missense_Mutation	SNP	ENST00000261383.3	37	c.3379G>A	CCDS10594.1	.	.	.	.	.	.	.	.	.	.	C	11.88	1.771071	0.31320	.	.	ENSG00000158486	ENST00000261383;ENST00000415178	T;T	0.61274	0.12;0.12	5.15	5.15	0.70609	Dynein heavy chain, domain-2 (1);	0.069160	0.56097	D	0.000029	T	0.45276	0.1334	N	0.21324	0.655	0.44289	D	0.997157	B	0.33022	0.394	B	0.31946	0.138	T	0.33828	-0.9853	10	0.20046	T	0.44	.	18.9997	0.92828	0.0:1.0:0.0:0.0	.	1127	Q8TD57	DYH3_HUMAN	T	1127	ENSP00000261383:A1127T;ENSP00000394245:A1127T	ENSP00000261383:A1127T	A	-	1	0	DNAH3	20988239	1.000000	0.71417	0.997000	0.53966	0.470000	0.32858	1.596000	0.36718	2.580000	0.87095	0.655000	0.94253	GCG		0.393	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539		35	54	0	0	0	0.003214	0	35	54				
HS3ST2	9956	broad.mit.edu	37	16	22926860	22926860	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr16:22926860G>T	ENST00000261374.3	+	2	1515	c.1081G>T	c.(1081-1083)Ggg>Tgg	p.G361W		NM_006043.1	NP_006034.1	Q9Y278	HS3S2_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 2	361					carbohydrate metabolic process (GO:0005975)|circadian rhythm (GO:0007623)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine 3-sulfotransferase 2 activity (GO:0033871)|sulfotransferase activity (GO:0008146)			breast(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(2)|skin(1)	19				GBM - Glioblastoma multiforme(48;0.0299)		TGAAACCGTTGGGCAGGACTT	0.448																																							uc002dli.2		NA																	0				ovary(1)|pancreas(1)	2						c.(1081-1083)GGG>TGG		heparan sulfate D-glucosaminyl							95.0	108.0	104.0					16																	22926860		2195	4300	6495	SO:0001583	missense	9956					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 2 activity	g.chr16:22926860G>T	AF105374	CCDS10606.1	16p12	2008-02-05			ENSG00000122254	ENSG00000122254	2.8.2.23	"""Sulfotransferases, membrane-bound"""	5195	protein-coding gene	gene with protein product		604056				9988767	Standard	NM_006043		Approved	3OST2	uc002dli.3	Q9Y278	OTTHUMG00000094785	ENST00000261374.3:c.1081G>T	16.37:g.22926860G>T	ENSP00000261374:p.Gly361Trp					HS3ST2_uc002dlj.2_RNA	p.G361W	NM_006043	NP_006034	Q9Y278	HS3S2_HUMAN		GBM - Glioblastoma multiforme(48;0.0299)	2	1153	+			361			Lumenal (Potential).		Q52LZ1	Missense_Mutation	SNP	ENST00000261374.3	37	c.1081G>T	CCDS10606.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.162161	0.78226	.	.	ENSG00000122254	ENST00000261374	T	0.55588	0.51	5.11	5.11	0.69529	.	0.052642	0.85682	D	0.000000	T	0.81273	0.4788	H	0.95151	3.63	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.87361	0.2344	10	0.87932	D	0	.	17.5444	0.87857	0.0:0.0:1.0:0.0	.	361	Q9Y278	HS3S2_HUMAN	W	361	ENSP00000261374:G361W	ENSP00000261374:G361W	G	+	1	0	HS3ST2	22834361	1.000000	0.71417	0.947000	0.38551	0.895000	0.52256	9.869000	0.99810	2.375000	0.81037	0.561000	0.74099	GGG		0.448	HS3ST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211598.1	NM_006043		46	33	1	0	7.47603e-22	0.00361	1.09323e-21	46	33				
ERN2	10595	broad.mit.edu	37	16	23713983	23713983	+	Missense_Mutation	SNP	C	C	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr16:23713983C>T	ENST00000457008.2	-	9	933	c.895G>A	c.(895-897)Gtc>Atc	p.V299I	ERN2_ENST00000256797.4_Missense_Mutation_p.V347I					endoplasmic reticulum to nucleus signaling 2											large_intestine(2)|lung(2)|ovary(2)	6				GBM - Glioblastoma multiforme(48;0.0156)		GCTTTAGAGACATAGAAGCCA	0.488																																							uc002dma.3		NA																	0				large_intestine(2)|lung(2)|ovary(2)	6						c.(1039-1041)GTC>ATC		endoplasmic reticulum to nucleus signalling 2							143.0	130.0	134.0					16																	23713983		2197	4300	6497	SO:0001583	missense	10595				apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity	g.chr16:23713983C>T	AA527544	CCDS32407.1	16p12.2	2008-02-05	2007-08-14			ENSG00000134398			16942	protein-coding gene	gene with protein product		604034	"""ER to nucleus signalling 2"""			9755171, 11175748	Standard	NM_033266		Approved	IRE1b	uc002dma.4	Q76MJ5		ENST00000457008.2:c.895G>A	16.37:g.23713983C>T	ENSP00000413812:p.Val299Ile					ERN2_uc010bxp.2_Missense_Mutation_p.V347I|ERN2_uc010bxq.1_Missense_Mutation_p.V155I	p.V347I	NM_033266	NP_150296	Q76MJ5	ERN2_HUMAN		GBM - Glioblastoma multiforme(48;0.0156)	9	1208	-			299			Lumenal (Potential).			Missense_Mutation	SNP	ENST00000457008.2	37	c.1039G>A		.	.	.	.	.	.	.	.	.	.	C	21.8	4.205920	0.79127	.	.	ENSG00000134398	ENST00000256797;ENST00000457008	T;T	0.60424	0.19;0.22	6.07	6.07	0.98685	.	0.054728	0.64402	D	0.000001	T	0.53997	0.1831	L	0.44542	1.39	0.40438	D	0.980012	B;P;P	0.49090	0.354;0.919;0.737	B;B;B	0.41202	0.179;0.35;0.321	T	0.60419	-0.7267	10	0.72032	D	0.01	.	18.1377	0.89624	0.0:1.0:0.0:0.0	.	299;299;299	Q76MJ5;E7ETG2;A5YM65	ERN2_HUMAN;.;.	I	347;299	ENSP00000256797:V347I;ENSP00000413812:V299I	ENSP00000256797:V347I	V	-	1	0	ERN2	23621484	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.893000	0.75649	2.890000	0.99128	0.650000	0.86243	GTC		0.488	ERN2-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000434886.1			20	53	0	0	0	0.005443	0	20	53				
LCMT1	51451	broad.mit.edu	37	16	25175934	25175934	+	Silent	SNP	G	G	C			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr16:25175934G>C	ENST00000399069.3	+	7	740	c.585G>C	c.(583-585)ctG>ctC	p.L195L	LCMT1_ENST00000572869.1_3'UTR|LCMT1_ENST00000380966.4_Silent_p.L140L	NM_016309.2	NP_057393.2	Q9UIC8	LCMT1_HUMAN	leucine carboxyl methyltransferase 1	195					C-terminal protein methylation (GO:0006481)|cellular protein modification process (GO:0006464)|negative regulation of protein complex assembly (GO:0031333)|protein methylation (GO:0006479)|regulation of apoptotic process (GO:0042981)|regulation of glucose metabolic process (GO:0010906)|regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090266)	cytosol (GO:0005829)	protein C-terminal carboxyl O-methyltransferase activity (GO:0003880)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)								GBM - Glioblastoma multiforme(48;0.0336)	L-Leucine(DB00149)	CAACACTCCTGATAGCTGAAT	0.428																																					Colon(200;565 2072 24396 47922 50898)	Colon(200;565 2072 24396 47922 50898)	uc002dnx.1		NA																	0					0						c.(583-585)CTG>CTC		leucine carboxyl methyltransferase 1 isoform a	L-Leucine(DB00149)						89.0	84.0	86.0					16																	25175934		1913	4141	6054	SO:0001819	synonymous_variant	51451						protein binding|protein C-terminal carboxyl O-methyltransferase activity|S-adenosylmethionine-dependent methyltransferase activity	g.chr16:25175934G>C	AF037601	CCDS45445.1, CCDS45446.1	16p12.1	2014-08-01			ENSG00000205629	ENSG00000205629			17557	protein-coding gene	gene with protein product	"""protein phosphatase methyltransferase 1"""	610286				10810093	Standard	XM_005255354		Approved	CGI-68, PPMT1	uc002dnx.1	Q9UIC8	OTTHUMG00000177182	ENST00000399069.3:c.585G>C	16.37:g.25175934G>C						LCMT1_uc002dny.1_Silent_p.L140L|LCMT1_uc002dnz.1_Silent_p.L95L|LCMT1_uc002doa.1_Silent_p.L40L	p.L195L	NM_016309	NP_057393	Q9UIC8	LCMT1_HUMAN		GBM - Glioblastoma multiforme(48;0.0336)	7	743	+			195					A6NL89|A8K770|Q53FC5|Q96CI5|Q9H6I9|Q9NTG4|Q9Y378	Silent	SNP	ENST00000399069.3	37	c.585G>C	CCDS45445.1																																																																																				0.428	LCMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435747.4	NM_016309		8	30	0	0	0	0.006214	0	8	30				
IL4R	3566	broad.mit.edu	37	16	27370278	27370278	+	Missense_Mutation	SNP	G	G	T	rs55988941	byFrequency	TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr16:27370278G>T	ENST00000395762.2	+	9	1071	c.812G>T	c.(811-813)cGc>cTc	p.R271L	IL4R_ENST00000565915.1_3'UTR|IL4R_ENST00000543915.2_Missense_Mutation_p.R271L|IL4R_ENST00000380922.3_Missense_Mutation_p.R256L|IL4R_ENST00000170630.2_Missense_Mutation_p.R271L	NM_000418.3	NP_000409.1	P24394	IL4RA_HUMAN	interleukin 4 receptor	271					defense response to protozoan (GO:0042832)|immune response (GO:0006955)|interleukin-4-mediated signaling pathway (GO:0035771)|intracellular signal transduction (GO:0035556)|negative regulation of T-helper 1 cell differentiation (GO:0045626)|ovulation (GO:0030728)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of macrophage activation (GO:0043032)|positive regulation of T-helper 2 cell differentiation (GO:0045630)|production of molecular mediator involved in inflammatory response (GO:0002532)|regulation of cell proliferation (GO:0042127)|response to estrogen (GO:0043627)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	interleukin-4 receptor activity (GO:0004913)|receptor signaling protein activity (GO:0005057)			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	33						AACCCAGCCCGCAGCCGCCTC	0.478																																							uc002don.2		NA																	0				ovary(1)|skin(1)	2						c.(811-813)CGC>CTC		interleukin 4 receptor alpha chain isoform a							80.0	77.0	78.0					16																	27370278		2197	4300	6497	SO:0001583	missense	3566				immune response|production of molecular mediator involved in inflammatory response	integral to plasma membrane	identical protein binding|interleukin-4 receptor activity|receptor signaling protein activity	g.chr16:27370278G>T	X52425	CCDS10629.1, CCDS58441.1	16p12.1-p11.2	2008-05-14			ENSG00000077238	ENSG00000077238		"""Interleukins and interleukin receptors"", ""CD molecules"""	6015	protein-coding gene	gene with protein product		147781				1679753	Standard	NM_000418		Approved	CD124	uc010bxy.4	P24394	OTTHUMG00000097015	ENST00000395762.2:c.812G>T	16.37:g.27370278G>T	ENSP00000379111:p.Arg271Leu					IL4R_uc002dop.3_Missense_Mutation_p.R256L|IL4R_uc010bxy.2_Missense_Mutation_p.R271L|IL4R_uc002doo.2_Missense_Mutation_p.R111L	p.R271L	NM_000418	NP_000409	P24394	IL4RA_HUMAN			9	1054	+			271			Cytoplasmic (Potential).		B4E076|B9EKU8|H3BSY5|Q96P01|Q9H181|Q9H182|Q9H183|Q9H184|Q9H185|Q9H186|Q9H187|Q9H188	Missense_Mutation	SNP	ENST00000395762.2	37	c.812G>T	CCDS10629.1	.	.	.	.	.	.	.	.	.	.	G	10.40	1.339592	0.24339	.	.	ENSG00000077238	ENST00000395762;ENST00000543915;ENST00000380922;ENST00000170630	T;T;T;T	0.11063	2.81;2.81;2.81;2.81	5.56	-0.673	0.11373	.	2.019430	0.01676	N	0.025872	T	0.10937	0.0267	L	0.44542	1.39	0.30265	N	0.792805	P;P;B	0.38827	0.649;0.649;0.451	B;B;B	0.32090	0.14;0.14;0.066	T	0.37526	-0.9702	10	0.52906	T	0.07	-17.7949	9.7321	0.40368	0.4166:0.0:0.5834:0.0	.	256;271;271	B4E076;B9EGC0;P24394	.;.;IL4RA_HUMAN	L	271;271;256;271	ENSP00000379111:R271L;ENSP00000441667:R271L;ENSP00000370309:R256L;ENSP00000170630:R271L	ENSP00000170630:R271L	R	+	2	0	IL4R	27277779	0.921000	0.31238	0.136000	0.22124	0.078000	0.17371	0.845000	0.27668	-0.387000	0.07809	-0.302000	0.09304	CGC		0.478	IL4R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214104.4			16	44	1	0	2.48551e-13	0.00499	3.24854e-13	16	44				
IL21R	50615	broad.mit.edu	37	16	27454428	27454428	+	Silent	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr16:27454428C>A	ENST00000337929.3	+	5	971	c.498C>A	c.(496-498)ccC>ccA	p.P166P	IL21R_ENST00000395754.4_Silent_p.P166P|IL21R_ENST00000564089.1_Silent_p.P166P|IL21R_ENST00000395755.1_Silent_p.P166P	NM_181078.2	NP_851564.1	Q9HBE5	IL21R_HUMAN	interleukin 21 receptor	166	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				interleukin-21-mediated signaling pathway (GO:0038114)|natural killer cell activation (GO:0030101)	integral component of membrane (GO:0016021)	interleukin-21 receptor activity (GO:0001532)			breast(2)|large_intestine(3)|lung(1)|ovary(2)	8						GGGGAGACCCCTGGGCTGTGG	0.557			T	BCL6	NHL																																		uc002doq.1		NA		Dom	yes		16	16p11	50615	T	interleukin 21 receptor			L	BCL6		NHL		0				ovary(2)|lung(1)|breast(1)	4						c.(496-498)CCC>CCA		interleukin 21 receptor precursor							64.0	53.0	57.0					16																	27454428		2197	4300	6497	SO:0001819	synonymous_variant	50615				natural killer cell activation	integral to membrane	interleukin-21 receptor activity	g.chr16:27454428C>A	AF254067	CCDS10630.1	16p11	2014-09-17			ENSG00000103522	ENSG00000103522		"""Interleukins and interleukin receptors"", ""CD molecules"""	6006	protein-coding gene	gene with protein product		605383				11081504	Standard	NM_181078		Approved	CD360	uc002dos.2	Q9HBE5	OTTHUMG00000131675	ENST00000337929.3:c.498C>A	16.37:g.27454428C>A						IL21R_uc002dor.1_Silent_p.P166P|IL21R_uc002dos.1_Silent_p.P166P	p.P166P	NM_181078	NP_851564	Q9HBE5	IL21R_HUMAN			5	731	+			166			Extracellular (Potential).|Fibronectin type-III.		A8K9E8|D3DWF7|Q96HZ1|Q9HB91	Silent	SNP	ENST00000337929.3	37	c.498C>A	CCDS10630.1																																																																																				0.557	IL21R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254578.2	NM_181078		13	31	1	0	0.000308642	0.003163	0.000332713	13	31				
IL27	246778	broad.mit.edu	37	16	28515207	28515207	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr16:28515207G>T	ENST00000356897.1	-	2	218	c.196C>A	c.(196-198)Cac>Aac	p.H66N		NM_145659.3	NP_663634.2	Q8TAD2	IL17D_HUMAN	interleukin 27	0					inflammatory response (GO:0006954)	extracellular space (GO:0005615)				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	10						ACAAAGCGGTGGGCCTGGCCC	0.657																																							uc002dqc.2		NA																	0					0						c.(196-198)CAC>AAC		interleukin 27 precursor							36.0	39.0	38.0					16																	28515207		2196	4300	6496	SO:0001583	missense	246778				inflammatory response|innate immune response|positive regulation of interferon-gamma biosynthetic process|regulation of defense response to virus|regulation of T cell proliferation|regulation of T-helper 1 cell differentiation	extracellular space	cytokine activity|interleukin-27 receptor binding	g.chr16:28515207G>T	AY099296	CCDS10633.1	16p11	2011-07-21	2003-12-17	2003-12-19	ENSG00000197272	ENSG00000197272		"""Interleukins and interleukin receptors"""	19157	protein-coding gene	gene with protein product		608273	"""interleukin 30"""	IL30		12121660	Standard	NM_145659		Approved	IL-27, p28, IL27p28, IL-27A, IL27A, MGC71873	uc002dqc.3	Q8NEV9	OTTHUMG00000097023	ENST00000356897.1:c.196C>A	16.37:g.28515207G>T	ENSP00000349365:p.His66Asn					uc010vct.1_Intron	p.H66N	NM_145659	NP_663634	Q8NEV9	IL27A_HUMAN			2	219	-			66					B1AM69	Missense_Mutation	SNP	ENST00000356897.1	37	c.196C>A	CCDS10633.1	.	.	.	.	.	.	.	.	.	.	G	13.52	2.260340	0.39995	.	.	ENSG00000197272	ENST00000356897	T	0.34072	1.38	4.37	3.41	0.39046	.	0.141476	0.32563	N	0.005938	T	0.28400	0.0702	L	0.52573	1.65	0.09310	N	1	P	0.36535	0.557	B	0.36092	0.217	T	0.10823	-1.0613	10	0.30078	T	0.28	-3.6657	7.2973	0.26401	0.1192:0.0:0.8808:0.0	.	66	Q8NEV9	IL27A_HUMAN	N	66	ENSP00000349365:H66N	ENSP00000349365:H66N	H	-	1	0	IL27	28422708	0.989000	0.36119	0.045000	0.18777	0.660000	0.38997	3.341000	0.52151	1.980000	0.57719	0.549000	0.68633	CAC		0.657	IL27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214114.1	NM_145659		22	54	1	0	1.17739e-12	0.005443	1.51917e-12	22	54				
SNX29P2	440352	broad.mit.edu	37	16	29376190	29376190	+	RNA	SNP	G	G	A	rs373571952	byFrequency	TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr16:29376190G>A	ENST00000507381.1	+	0	929				SNX29P2_ENST00000398878.3_lincRNA			Q8IUI4	S29P2_HUMAN	sorting nexin 29 pseudogene 2																		AAGCCCCTTCGGGCCAAACTC	0.498													G|||	2	0.000399361	0.0	0.0	5008	,	,		15158	0.0		0.002	False		,,,				2504	0.0						uc002dsj.1		NA																	0					0						c.(532-534)GGG>AGG		RecName: Full=RUN domain-containing protein 2A;		G		0,4388		0,0,2194	35.0	41.0	39.0			1.5	1.0	16		39	6,8588	4.3+/-15.6	0,6,4291	no	intergenic				0,6,6485	AA,AG,GG		0.0698,0.0,0.0462			29376190	6,12976	2194	4297	6491			440352							g.chr16:29376190G>A	BX648280		16p11.2	2014-03-21	2011-08-16	2011-08-16	ENSG00000198106	ENSG00000198106			31914	pseudogene	pseudogene			"""RUN domain containing 2C"""	RUNDC2C			Standard	NR_002939		Approved		uc021tfw.1	Q8IUI4			16.37:g.29376190G>A						uc010vct.1_Intron|RUNDC2C_uc010bys.1_RNA|RUNDC2C_uc010vdo.1_Missense_Mutation_p.G159R	p.G178R	NM_001012391	NP_001012391					5	929	+									Missense_Mutation	SNP	ENST00000507381.1	37	c.532G>A		.	.	.	.	.	.	.	.	.	.	G	12.31	1.898828	0.33535	0.0	6.98E-4	ENSG00000198106	ENST00000398878;ENST00000507381;ENST00000356328	.	.	.	1.53	1.53	0.23141	.	0.286767	0.35040	N	0.003498	T	0.38427	0.1040	.	.	.	0.35565	D	0.805037	D;D	0.65815	0.986;0.995	P;P	0.49361	0.47;0.608	T	0.43327	-0.9398	8	0.25106	T	0.35	-5.9927	3.9378	0.09313	0.2248:0.0:0.7751:0.0	.	159;178	Q8IUI4;E9PDE2	RUN2B_HUMAN;.	R	159;178;159	.	ENSP00000348682:G159R	G	+	1	0	RUNDC2C	29283691	0.994000	0.37717	1.000000	0.80357	0.429000	0.31625	2.771000	0.47670	1.159000	0.42565	0.398000	0.26397	GGG		0.498	SNX29P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000361855.1	NR_002939		13	71	0	0	0	0.007413	0	13	71				
ZNF646	9726	broad.mit.edu	37	16	31090321	31090321	+	Silent	SNP	G	G	C			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr16:31090321G>C	ENST00000394979.2	+	1	3099	c.2676G>C	c.(2674-2676)ggG>ggC	p.G892G	ZNF646_ENST00000300850.5_Silent_p.G892G			O15015	ZN646_HUMAN	zinc finger protein 646	892					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						TCTTCCCTGGGCGGGCTGGCT	0.652																																							uc002eap.2		NA																	0				breast(2)	2						c.(2674-2676)GGG>GGC		zinc finger protein 646							32.0	35.0	34.0					16																	31090321		2197	4300	6497	SO:0001819	synonymous_variant	9726				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr16:31090321G>C	AB002294	CCDS10702.1	16p11.2	2013-01-08			ENSG00000167395	ENSG00000167395		"""Zinc fingers, C2H2-type"""	29004	protein-coding gene	gene with protein product							Standard	NM_014699		Approved	KIAA0296	uc002eap.3	O15015	OTTHUMG00000047355	ENST00000394979.2:c.2676G>C	16.37:g.31090321G>C							p.G892G	NM_014699	NP_055514	O15015	ZN646_HUMAN			2	2965	+			892			C2H2-type 16.		Q8IVD8	Silent	SNP	ENST00000394979.2	37	c.2676G>C																																																																																					0.652	ZNF646-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000108510.2	NM_014699		19	53	0	0	0	0.001882	0	19	53				
ITGAD	3681	broad.mit.edu	37	16	31434720	31434720	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr16:31434720G>T	ENST00000389202.2	+	25	2956	c.2907G>T	c.(2905-2907)tgG>tgT	p.W969C		NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN	integrin, alpha D	969					activated T cell proliferation (GO:0050798)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|immune response (GO:0006955)|integrin-mediated signaling pathway (GO:0007229)	cell surface (GO:0009986)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						TTAACTTCTGGGTTCCTGTCC	0.537																																							uc002ebv.1		NA																	0				skin(1)	1						c.(2905-2907)TGG>TGT		integrin, alpha D precursor							184.0	158.0	167.0					16																	31434720		2197	4300	6497	SO:0001583	missense	3681				cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity	g.chr16:31434720G>T	U40274	CCDS32438.1	16p13.1-p11	2010-03-23				ENSG00000156886		"""CD molecules"", ""Integrins"""	6146	protein-coding gene	gene with protein product		602453				8666289, 9598326	Standard	NM_005353		Approved	CD11d, ADB2	uc002ebv.1	Q13349		ENST00000389202.2:c.2907G>T	16.37:g.31434720G>T	ENSP00000373854:p.Trp969Cys					ITGAD_uc010cap.1_Missense_Mutation_p.W970C	p.W969C	NM_005353	NP_005344	Q13349	ITAD_HUMAN			25	2956	+			969			Extracellular (Potential).		Q15575|Q15576	Missense_Mutation	SNP	ENST00000389202.2	37	c.2907G>T	CCDS32438.1	.	.	.	.	.	.	.	.	.	.	G	13.09	2.133914	0.37630	.	.	ENSG00000156886	ENST00000444228;ENST00000389202	T	0.44881	0.91	5.24	5.24	0.73138	Integrin alpha-2 (1);	.	.	.	.	T	0.65647	0.2711	M	0.80982	2.52	0.58432	D	0.999995	D;D	0.89917	1.0;1.0	D;D	0.79784	0.993;0.993	T	0.69124	-0.5228	9	0.56958	D	0.05	.	14.3219	0.66491	0.0:0.0:1.0:0.0	.	985;969	Q59H14;Q13349	.;ITAD_HUMAN	C	985;969	ENSP00000373854:W969C	ENSP00000373854:W969C	W	+	3	0	ITGAD	31342221	1.000000	0.71417	0.934000	0.37439	0.023000	0.10783	2.625000	0.46452	2.409000	0.81822	0.650000	0.86243	TGG		0.537	ITGAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432836.1	NM_005353		41	74	1	0	3.16986e-14	0.00361	4.20841e-14	41	74				
ABCC12	94160	broad.mit.edu	37	16	48134857	48134857	+	Silent	SNP	G	G	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr16:48134857G>A	ENST00000311303.3	-	21	3309	c.2964C>T	c.(2962-2964)ttC>ttT	p.F988F	ABCC12_ENST00000416054.1_3'UTR|ABCC12_ENST00000448542.1_Missense_Mutation_p.H910Y	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	988	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.					integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				TGATGTGGGTGAACCAGGGTG	0.572																																							uc002efc.1		NA																	0				ovary(2)|skin(1)	3						c.(2962-2964)TTC>TTT		ATP-binding cassette protein C12							135.0	112.0	120.0					16																	48134857		2201	4300	6501	SO:0001819	synonymous_variant	94160					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:48134857G>A	AY040220	CCDS10730.1	16q12.1	2012-03-14			ENSG00000140798	ENSG00000140798		"""ATP binding cassette transporters / subfamily C"""	14640	protein-coding gene	gene with protein product		607041				11435397, 11483364	Standard	NM_033226		Approved	MRP9	uc002efc.1	Q96J65	OTTHUMG00000133143	ENST00000311303.3:c.2964C>T	16.37:g.48134857G>A						ABCC12_uc002eey.1_RNA|ABCC12_uc002eez.1_RNA|ABCC12_uc002efa.1_RNA|ABCC12_uc002efb.1_RNA|ABCC12_uc002efd.1_RNA	p.F988F	NM_033226	NP_150229	Q96J65	MRP9_HUMAN			21	3310	-		all_cancers(37;0.0474)|all_lung(18;0.047)	988			ABC transmembrane type-1 2.		Q49AL2|Q8TAF0|Q8TEY2	Silent	SNP	ENST00000311303.3	37	c.2964C>T	CCDS10730.1	.	.	.	.	.	.	.	.	.	.	G	8.757	0.922647	0.18056	.	.	ENSG00000140798	ENST00000448542	D	0.92249	-3.0	5.39	2.4	0.29515	.	.	.	.	.	D	0.90508	0.7026	.	.	.	0.80722	D	1	.	.	.	.	.	.	D	0.84456	0.0591	6	0.30854	T	0.27	.	7.5559	0.27824	0.2673:0.0:0.7327:0.0	.	.	.	.	Y	910	ENSP00000401855:H910Y	ENSP00000401855:H910Y	H	-	1	0	ABCC12	46692358	1.000000	0.71417	0.994000	0.49952	0.266000	0.26442	0.636000	0.24644	0.263000	0.21812	-0.258000	0.10820	CAC		0.572	ABCC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256837.1	NM_033226		6	44	0	0	0	0.006214	0	6	44				
CBLN1	869	broad.mit.edu	37	16	49313338	49313338	+	Missense_Mutation	SNP	C	C	G			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr16:49313338C>G	ENST00000219197.6	-	3	924	c.559G>C	c.(559-561)Gga>Cga	p.G187R	CBLN1_ENST00000536749.1_Missense_Mutation_p.G187R	NM_004352.3	NP_004343.1	P23435	CBLN1_HUMAN	cerebellin 1 precursor	187	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.|Necessary for interaction with CBLN3, and homotrimerization. {ECO:0000250}.				cerebellar granule cell differentiation (GO:0021707)|heterophilic cell-cell adhesion (GO:0007157)|nervous system development (GO:0007399)|positive regulation of synapse assembly (GO:0051965)|protein secretion (GO:0009306)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|extracellular region (GO:0005576)|postsynaptic membrane (GO:0045211)				breast(1)|kidney(3)|large_intestine(2)|lung(3)	9		all_cancers(37;0.0766)|all_lung(18;0.24)				ACCAGGAATCCGGAGAAGGTC	0.567																																							uc002efq.2		NA																	0					0						c.(559-561)GGA>CGA		cerebellin 1 precursor							96.0	91.0	92.0					16																	49313338		2200	4300	6500	SO:0001583	missense	869				nervous system development|synaptic transmission	cell junction|extracellular region|synapse		g.chr16:49313338C>G	M58583	CCDS10736.1	16q12.1	2008-02-05			ENSG00000102924	ENSG00000102924			1543	protein-coding gene	gene with protein product		600432				7877445, 1704129	Standard	NM_004352		Approved		uc002efq.3	P23435	OTTHUMG00000133148	ENST00000219197.6:c.559G>C	16.37:g.49313338C>G	ENSP00000219197:p.Gly187Arg						p.G187R	NM_004352	NP_004343	P23435	CBLN1_HUMAN			3	898	-		all_cancers(37;0.0766)|all_lung(18;0.24)	187			C1q.|Necessary for interaction with CBLN3, and homotrimerization (By similarity).		B2RAN9|P02682|Q52M09	Missense_Mutation	SNP	ENST00000219197.6	37	c.559G>C	CCDS10736.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.622257	0.87460	.	.	ENSG00000102924	ENST00000219197;ENST00000536749	D;D	0.96856	-4.15;-4.15	5.49	4.54	0.55810	Tumour necrosis factor-like (2);Complement C1q protein (4);	0.055633	0.64402	N	0.000001	D	0.98629	0.9541	H	0.95151	3.63	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99612	1.0981	10	0.87932	D	0	-5.0207	14.5603	0.68130	0.0:0.9294:0.0:0.0706	.	187	P23435	CBLN1_HUMAN	R	187	ENSP00000219197:G187R;ENSP00000444651:G187R	ENSP00000219197:G187R	G	-	1	0	CBLN1	47870839	1.000000	0.71417	0.896000	0.35187	0.988000	0.76386	7.691000	0.84191	1.442000	0.47568	0.655000	0.94253	GGA		0.567	CBLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256845.4	NM_004352		10	100	0	0	0	0.001368	0	10	100				
CYLD	1540	broad.mit.edu	37	16	50813605	50813606	+	Missense_Mutation	DNP	GA	GA	TT			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	GA	GA	-	-	GA	GA	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr16:50813605_50813606GA>TT	ENST00000427738.3	+	8	1373_1374	c.1168_1169GA>TT	c.(1168-1170)GAg>TTg	p.E390L	CYLD_ENST00000311559.9_Missense_Mutation_p.E390L|CYLD_ENST00000568704.2_Intron|CYLD_ENST00000540145.1_Missense_Mutation_p.E390L|CYLD_ENST00000566206.1_Missense_Mutation_p.E387L|CYLD_ENST00000569418.1_Missense_Mutation_p.E387L|CYLD_ENST00000398568.2_Missense_Mutation_p.E387L|CYLD_ENST00000564326.1_Missense_Mutation_p.E387L			Q9NQC7	CYLD_HUMAN	cylindromatosis (turban tumor syndrome)	390	Interaction with TRIP.				cell cycle (GO:0007049)|innate immune response (GO:0045087)|necroptotic process (GO:0070266)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|protein K63-linked deubiquitination (GO:0070536)|regulation of intrinsic apoptotic signaling pathway (GO:2001242)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of mitotic cell cycle (GO:0007346)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)	centrosome (GO:0005813)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|microtubule (GO:0005874)|nucleus (GO:0005634)	Lys63-specific deubiquitinase activity (GO:0061578)|proline-rich region binding (GO:0070064)|protein kinase binding (GO:0019901)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(9)|lung(17)|pancreas(1)|skin(22)|upper_aerodigestive_tract(1)	62		all_cancers(37;0.0156)				ATCTCTTACAGAGATATCTACA	0.386			"""Mis, N, F, S"""		cylindroma	cylindroma			Multiple Trichoepithelioma, Familial;Familial Cylindromatosis																														uc002egp.1		NA	yes	Rec	yes	Familial cylindromatosis	16	16q12-q13	1540	Mis|N|F|S	familial cylindromatosis gene			E		cylindroma	cylindroma		0				skin(19)|large_intestine(3)|haematopoietic_and_lymphoid_tissue(3)|central_nervous_system(3)	28						c.(1168-1170)GAG>TTG		ubiquitin carboxyl-terminal hydrolase CYLD																																				SO:0001583	missense	1540	Familial_Cylindromatosis|Multiple_Trichoepithelioma_Familial	Familial Cancer Database	;FADC, Turban Tumor syndrome, Epithelioma Adenoides Cysticum of Brooke, Hereditary Multiple Benign Cystic Epithelioma, Dermal Eccrine Cylindromatosis, Brooke-Spiegler s.	cell cycle|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K63-linked deubiquitination|regulation of microtubule cytoskeleton organization|regulation of mitotic cell cycle|translation|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	cytosol|extrinsic to internal side of plasma membrane|microtubule|perinuclear region of cytoplasm|ribosome	proline-rich region binding|protein kinase binding|structural constituent of ribosome|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	g.chr16:50813605_50813606GA>TT	AB020656	CCDS42164.1, CCDS45482.1	16q12-q13	2014-09-17							2584	protein-coding gene	gene with protein product	"""ubiquitin specific peptidase like 2"""	605018		CYLD1		7493027	Standard	NM_015247		Approved	KIAA0849, USPL2	uc002egq.1	Q9NQC7		Exception_encountered	16.37:g.50813605_50813606delinsTT	ENSP00000392025:p.Glu390Leu					CYLD_uc002ego.2_Missense_Mutation_p.E387L|CYLD_uc010cbs.1_Missense_Mutation_p.E387L|CYLD_uc002egq.1_Missense_Mutation_p.E387L|CYLD_uc002egr.1_Missense_Mutation_p.E387L|CYLD_uc002egs.1_Missense_Mutation_p.E387L	p.E390L	NM_015247	NP_056062	Q9NQC7	CYLD_HUMAN			9	1583_1584	+		all_cancers(37;0.0156)	390			Interaction with TRIP.		O94934|Q7L3N6|Q96EH0|Q9NZX9	Missense_Mutation	DNP	ENST00000427738.3	37	c.1168_1169GA>TT	CCDS45482.1																																																																																				0.386	CYLD-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000422998.2			21	163	0	0	0	0.004672	0	21	163				
MMP2	4313	broad.mit.edu	37	16	55519646	55519646	+	Nonsense_Mutation	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr16:55519646C>A	ENST00000219070.4	+	5	1298	c.789C>A	c.(787-789)taC>taA	p.Y263*	MMP2_ENST00000570308.1_Nonsense_Mutation_p.Y187*|MMP2_ENST00000437642.2_Nonsense_Mutation_p.Y213*|MMP2_ENST00000543485.1_Nonsense_Mutation_p.Y187*	NM_004530.4	NP_004521.1	P08253	MMP2_HUMAN	matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)	263	Collagen-binding.|Fibronectin type-II 1. {ECO:0000255|PROSITE-ProRule:PRU00479}.				angiogenesis (GO:0001525)|blood vessel maturation (GO:0001955)|bone trabecula formation (GO:0060346)|cellular protein metabolic process (GO:0044267)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|intramembranous ossification (GO:0001957)|positive regulation of innate immune response (GO:0045089)|proteolysis (GO:0006508)|response to hypoxia (GO:0001666)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)|sarcomere (GO:0030017)	metalloendopeptidase activity (GO:0004222)|serine-type endopeptidase activity (GO:0004252)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|liver(2)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	58		Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189)		UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786)	Captopril(DB01197)|Marimastat(DB00786)	CCACCACCTACAACTTTGAGA	0.562																																							uc002ehz.3		NA																	0				large_intestine(3)|ovary(3)|lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)	11						c.(787-789)TAC>TAA		matrix metalloproteinase 2 isoform a	Marimastat(DB00786)|Sulindac(DB00605)						136.0	120.0	125.0					16																	55519646		2198	4300	6498	SO:0001587	stop_gained	4313				angiogenesis|collagen catabolic process|proteolysis	extracellular space|membrane|nucleus|proteinaceous extracellular matrix	metalloendopeptidase activity|protein binding|zinc ion binding	g.chr16:55519646C>A		CCDS10752.1, CCDS45487.1	16q13-q21	2008-02-05	2005-08-08		ENSG00000087245	ENSG00000087245	3.4.24.24		7166	protein-coding gene	gene with protein product		120360	"""matrix metalloproteinase 2 (gelatinase A, 72kD gelatinase, 72kD type IV collagenase)"", ""matrix metalloproteinase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)"""	CLG4, CLG4A			Standard	NM_004530		Approved	TBE-1	uc002ehz.4	P08253	OTTHUMG00000133202	ENST00000219070.4:c.789C>A	16.37:g.55519646C>A	ENSP00000219070:p.Tyr263*					MMP2_uc010vhd.1_Nonsense_Mutation_p.Y187*|MMP2_uc010ccc.2_Nonsense_Mutation_p.Y213*	p.Y263*	NM_004530	NP_004521	P08253	MMP2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786)	5	1100	+		Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189)	263			Fibronectin type-II 1.|Collagen-binding.		B2R6U1|B4DWH3|E9PE45|Q9UCJ8	Nonsense_Mutation	SNP	ENST00000219070.4	37	c.789C>A	CCDS10752.1	.	.	.	.	.	.	.	.	.	.	C	34	5.341550	0.95783	.	.	ENSG00000087245	ENST00000219070;ENST00000543485;ENST00000437642	.	.	.	5.06	5.06	0.68205	.	0.115962	0.64402	D	0.000010	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.009	0.30342	0.1706:0.7466:0.0:0.0828	.	.	.	.	X	263;187;213	.	ENSP00000219070:Y263X	Y	+	3	2	MMP2	54077147	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	2.785000	0.47782	2.361000	0.80049	0.442000	0.29010	TAC		0.562	MMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256913.3			15	134	1	0	4.96729e-08	0.008871	5.83469e-08	15	134				
GNAO1	2775	broad.mit.edu	37	16	56226490	56226490	+	Silent	SNP	T	T	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr16:56226490T>A	ENST00000262493.6	+	2	969	c.123T>A	c.(121-123)gcT>gcA	p.A41A	GNAO1_ENST00000262494.7_Silent_p.A41A|RP11-461O7.1_ENST00000501259.1_lincRNA|GNAO1_ENST00000569295.1_3'UTR|CTD-2050B12.2_ENST00000567381.1_RNA	NM_020988.2	NP_066268.1	P09471	GNAO_HUMAN	guanine nucleotide binding protein (G protein), alpha activating activity polypeptide O	41					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|aging (GO:0007568)|dopamine receptor signaling pathway (GO:0007212)|forebrain development (GO:0030900)|locomotory behavior (GO:0007626)|muscle contraction (GO:0006936)|negative regulation of calcium ion transport (GO:0051926)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|regulation of heart contraction (GO:0008016)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to morphine (GO:0043278)	heterotrimeric G-protein complex (GO:0005834)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	corticotropin-releasing hormone receptor 1 binding (GO:0051430)|G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled serotonin receptor binding (GO:0031821)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|mu-type opioid receptor binding (GO:0031852)|signal transducer activity (GO:0004871)			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(4)|prostate(1)	17		all_neural(199;0.159)				CAACAGGGGCTGGAGAATCAG	0.478																																							uc002eit.3		NA																	0				lung(1)|breast(1)	2						c.(121-123)GCT>GCA		guanine nucleotide binding protein, alpha							135.0	138.0	137.0					16																	56226490		2198	4300	6498	SO:0001819	synonymous_variant	2775				dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|muscle contraction	heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|metabotropic serotonin receptor binding|signal transducer activity	g.chr16:56226490T>A		CCDS10756.1, CCDS10757.1	16q13	2008-08-01			ENSG00000087258	ENSG00000087258			4389	protein-coding gene	gene with protein product		139311				1899283, 11395521	Standard	NM_020988		Approved	G-ALPHA-o	uc002eit.4	P09471	OTTHUMG00000133241	ENST00000262493.6:c.123T>A	16.37:g.56226490T>A						GNAO1_uc002eiu.3_Silent_p.A41A|LOC283856_uc002eis.1_5'Flank	p.A41A	NM_138736	NP_620073	P09471	GNAO_HUMAN			2	1020	+		all_neural(199;0.159)	41			GTP (By similarity).		P29777|Q8TD72|Q9UMV4	Silent	SNP	ENST00000262493.6	37	c.123T>A	CCDS10756.1																																																																																				0.478	GNAO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256981.2	NM_020988		21	134	0	0	0	0.00632	0	21	134				
GPR114	221188	broad.mit.edu	37	16	57597831	57597831	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr16:57597831G>T	ENST00000340339.4	+	5	892	c.369G>T	c.(367-369)aaG>aaT	p.K123N	GPR114_ENST00000349457.3_Missense_Mutation_p.K123N|GPR114_ENST00000394361.4_3'UTR	NM_153837.1	NP_722579.1	Q8IZF4	GP114_HUMAN	G protein-coupled receptor 114	123					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)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(5)|ovary(2)|stomach(1)|urinary_tract(1)	23						ACGCCTGCAAGACCCGCCCCA	0.647																																							uc002elx.3		NA																	0				central_nervous_system(1)	1						c.(367-369)AAG>AAT		G protein-coupled receptor 114 precursor							50.0	54.0	53.0					16																	57597831		2198	4300	6498	SO:0001583	missense	221188				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr16:57597831G>T	AY140956	CCDS10785.1	16q13	2014-08-08			ENSG00000159618	ENSG00000159618		"""-"", ""GPCR / Class B : Orphans"""	19010	protein-coding gene	gene with protein product						12435584	Standard	NM_153837		Approved	PGR27	uc002ely.3	Q8IZF4	OTTHUMG00000133461	ENST00000340339.4:c.369G>T	16.37:g.57597831G>T	ENSP00000342981:p.Lys123Asn					GPR114_uc010vhr.1_Missense_Mutation_p.K123N|GPR114_uc002ely.2_Missense_Mutation_p.K123N	p.K123N	NM_153837	NP_722579	Q8IZF4	GP114_HUMAN			5	454	+			123			Extracellular (Potential).		B3KXZ5|Q6ZMH7|Q6ZML4|Q86SL8|Q8IZ14	Missense_Mutation	SNP	ENST00000340339.4	37	c.369G>T	CCDS10785.1	.	.	.	.	.	.	.	.	.	.	G	9.246	1.039542	0.19669	.	.	ENSG00000159618	ENST00000394361;ENST00000340339;ENST00000349457	T;T	0.29917	1.55;1.55	5.03	0.675	0.17952	.	1.222820	0.05815	N	0.614716	T	0.18759	0.0450	L	0.36672	1.1	0.09310	N	1	P;P	0.40144	0.704;0.454	B;B	0.27170	0.077;0.057	T	0.20538	-1.0272	10	0.42905	T	0.14	.	4.7051	0.12846	0.2784:0.1581:0.5635:0.0	.	123;123	B4E148;Q8IZF4	.;GP114_HUMAN	N	123	ENSP00000342981:K123N;ENSP00000290823:K123N	ENSP00000342981:K123N	K	+	3	2	GPR114	56155332	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.469000	0.22067	0.144000	0.18951	-0.339000	0.08088	AAG		0.647	GPR114-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257336.3	NM_153837		7	81	1	0	2.17888e-05	0.006214	2.40535e-05	7	81				
CNOT1	23019	broad.mit.edu	37	16	58559111	58559111	+	Missense_Mutation	SNP	C	C	G			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr16:58559111C>G	ENST00000317147.5	-	46	7088	c.6756G>C	c.(6754-6756)caG>caC	p.Q2252H	CNOT1_ENST00000569240.1_Missense_Mutation_p.Q2247H|CNOT1_ENST00000245138.4_Missense_Mutation_p.Q1103H	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	2252					gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of stem cell maintenance (GO:2000036)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular space (GO:0005615)|membrane (GO:0016020)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)	estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|retinoic acid receptor binding (GO:0042974)			breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		CAGCCAAATTCTGGAAGATAT	0.478																																							uc002env.2		NA																	0				ovary(4)|central_nervous_system(2)	6						c.(6754-6756)CAG>CAC		CCR4-NOT transcription complex, subunit 1							191.0	149.0	164.0					16																	58559111		2198	4300	6498	SO:0001583	missense	23019				nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol		g.chr16:58559111C>G	AL833549	CCDS10799.1, CCDS45501.1, CCDS58468.1	16q21	2008-02-05			ENSG00000125107	ENSG00000125107			7877	protein-coding gene	gene with protein product		604917		NOT1		14702039	Standard	NM_016284		Approved	CDC39, NOT1H, KIAA1007, AD-005	uc002env.4	A5YKK6	OTTHUMG00000133487	ENST00000317147.5:c.6756G>C	16.37:g.58559111C>G	ENSP00000320949:p.Gln2252His					CNOT1_uc002enw.2_RNA|CNOT1_uc002enu.3_Missense_Mutation_p.Q2247H|CNOT1_uc002ent.2_Missense_Mutation_p.Q190H|CNOT1_uc010vik.1_Missense_Mutation_p.Q1209H	p.Q2252H	NM_016284	NP_057368	A5YKK6	CNOT1_HUMAN		Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)	46	7049	-			2252					Q68DX7|Q7Z3K2|Q8IWB8|Q8TB53|Q9BVZ6|Q9UFR8|Q9UI27|Q9Y2L0	Missense_Mutation	SNP	ENST00000317147.5	37	c.6756G>C	CCDS10799.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.315286	0.81358	.	.	ENSG00000125107	ENST00000317147;ENST00000422872;ENST00000546037;ENST00000245138	T	0.49720	0.77	6.08	5.13	0.70059	CCR4-Not complex component, Not1, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.67192	0.2867	M	0.74881	2.28	0.80722	D	1	D;P;D	0.89917	1.0;0.885;1.0	D;P;D	0.91635	0.999;0.766;0.999	T	0.66775	-0.5838	10	0.32370	T	0.25	-25.4064	14.3722	0.66849	0.0:0.9296:0.0:0.0704	.	1103;2252;2247	B5MDN3;A5YKK6;A5YKK6-2	.;CNOT1_HUMAN;.	H	2252;946;257;1103	ENSP00000320949:Q2252H	ENSP00000245138:Q1103H	Q	-	3	2	CNOT1	57116612	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.445000	0.44899	1.575000	0.49775	0.591000	0.81541	CAG		0.478	CNOT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257385.3	NM_016284		17	134	0	0	0	0.001882	0	17	134				
CNOT1	23019	broad.mit.edu	37	16	58564242	58564242	+	Missense_Mutation	SNP	T	T	C			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr16:58564242T>C	ENST00000317147.5	-	43	6519	c.6187A>G	c.(6187-6189)Atg>Gtg	p.M2063V	CNOT1_ENST00000569240.1_Missense_Mutation_p.M2058V|CNOT1_ENST00000245138.4_Missense_Mutation_p.M914V	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	2063					gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of stem cell maintenance (GO:2000036)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular space (GO:0005615)|membrane (GO:0016020)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)	estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|retinoic acid receptor binding (GO:0042974)			breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		TGTGCATACATAGGCCACCCC	0.388																																							uc002env.2		NA																	0				ovary(4)|central_nervous_system(2)	6						c.(6187-6189)ATG>GTG		CCR4-NOT transcription complex, subunit 1							56.0	56.0	56.0					16																	58564242		2198	4300	6498	SO:0001583	missense	23019				nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol		g.chr16:58564242T>C	AL833549	CCDS10799.1, CCDS45501.1, CCDS58468.1	16q21	2008-02-05			ENSG00000125107	ENSG00000125107			7877	protein-coding gene	gene with protein product		604917		NOT1		14702039	Standard	NM_016284		Approved	CDC39, NOT1H, KIAA1007, AD-005	uc002env.4	A5YKK6	OTTHUMG00000133487	ENST00000317147.5:c.6187A>G	16.37:g.58564242T>C	ENSP00000320949:p.Met2063Val					CNOT1_uc002enw.2_RNA|CNOT1_uc002enu.3_Missense_Mutation_p.M2058V|CNOT1_uc002ent.2_Missense_Mutation_p.M1V|CNOT1_uc010vik.1_Missense_Mutation_p.M1020V	p.M2063V	NM_016284	NP_057368	A5YKK6	CNOT1_HUMAN		Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)	43	6480	-			2063					Q68DX7|Q7Z3K2|Q8IWB8|Q8TB53|Q9BVZ6|Q9UFR8|Q9UI27|Q9Y2L0	Missense_Mutation	SNP	ENST00000317147.5	37	c.6187A>G	CCDS10799.1	.	.	.	.	.	.	.	.	.	.	T	19.35	3.810133	0.70797	.	.	ENSG00000125107	ENST00000317147;ENST00000422872;ENST00000546037;ENST00000245138;ENST00000394200	T	0.42131	0.98	5.91	5.91	0.95273	CCR4-Not complex component, Not1, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.33876	0.0878	L	0.41632	1.29	0.80722	D	1	B;B;B	0.31435	0.323;0.073;0.24	B;B;B	0.26614	0.048;0.065;0.071	T	0.11012	-1.0605	10	0.16420	T	0.52	.	16.35	0.83199	0.0:0.0:0.0:1.0	.	914;2063;2058	B5MDN3;A5YKK6;A5YKK6-2	.;CNOT1_HUMAN;.	V	2063;757;68;914;2058	ENSP00000320949:M2063V	ENSP00000245138:M914V	M	-	1	0	CNOT1	57121743	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.002000	0.88514	2.270000	0.75569	0.528000	0.53228	ATG		0.388	CNOT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257385.3	NM_016284		11	60	0	0	0	0.000978	0	11	60				
LRRC36	55282	broad.mit.edu	37	16	67401279	67401279	+	Missense_Mutation	SNP	G	G	A	rs373608861		TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr16:67401279G>A	ENST00000329956.6	+	8	1133	c.1114G>A	c.(1114-1116)Gct>Act	p.A372T	LRRC36_ENST00000563189.1_Missense_Mutation_p.A251T|LRRC36_ENST00000435835.3_Missense_Mutation_p.A251T|LRRC36_ENST00000290940.7_Missense_Mutation_p.A104T|LRRC36_ENST00000541146.1_Intron	NM_018296.5	NP_060766.5	Q1X8D7	LRC36_HUMAN	leucine rich repeat containing 36	372										endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	24		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0669)|Epithelial(162;0.161)		AAAGACCACCGCTTCACATTC	0.433																																							uc002esv.2		NA																	0					0						c.(1114-1116)GCT>ACT		leucine rich repeat containing 36 isoform 1		G	THR/ALA,THR/ALA	0,4396		0,0,2198	204.0	206.0	205.0		751,1114	-10.6	0.0	16		205	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	LRRC36	NM_001161575.1,NM_018296.5	58,58	0,1,6497	AA,AG,GG		0.0116,0.0,0.0077	benign,benign	251/634,372/755	67401279	1,12995	2198	4300	6498	SO:0001583	missense	55282							g.chr16:67401279G>A	BC026156	CCDS32467.1, CCDS58474.1	16q22.1	2008-02-05				ENSG00000159708			25615	protein-coding gene	gene with protein product						12477932	Standard	NM_001161575		Approved	FLJ11004	uc002esv.3	Q1X8D7		ENST00000329956.6:c.1114G>A	16.37:g.67401279G>A	ENSP00000329943:p.Ala372Thr					LRRC36_uc002esw.2_Intron|LRRC36_uc010ceh.2_Intron|LRRC36_uc002esx.2_Missense_Mutation_p.A251T|LRRC36_uc010vjk.1_Missense_Mutation_p.A251T|LRRC36_uc010vjl.1_Intron|LRRC36_uc002esy.2_Intron	p.A372T	NM_018296	NP_060766	Q1X8D7	LRC36_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0669)|Epithelial(162;0.161)	8	1133	+		Ovarian(137;0.192)	372					A4FTV6|A6NDE9|A8K8E6|Q7Z5K5	Missense_Mutation	SNP	ENST00000329956.6	37	c.1114G>A	CCDS32467.1	.	.	.	.	.	.	.	.	.	.	G	0.011	-1.739471	0.00681	0.0	1.16E-4	ENSG00000159708	ENST00000329956;ENST00000290940;ENST00000435835	T;T;T	0.42900	3.35;0.96;1.6	5.32	-10.6	0.00265	.	1.220760	0.05645	N	0.584150	T	0.08044	0.0201	N	0.00436	-1.5	0.09310	N	0.999999	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.0;0.0	T	0.18618	-1.0331	10	0.02654	T	1	7.4727	7.4753	0.27371	0.3066:0.0:0.4907:0.2027	.	251;251;372	B7Z7B3;Q1X8D7-2;Q1X8D7	.;.;LRC36_HUMAN	T	372;104;251	ENSP00000329943:A372T;ENSP00000290940:A104T;ENSP00000411122:A251T	ENSP00000290940:A104T	A	+	1	0	LRRC36	65958780	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-2.134000	0.01307	-1.843000	0.01179	-0.137000	0.14449	GCT		0.433	LRRC36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421770.1	NM_018296		31	175	0	0	0	0.004878	0	31	175				
FAM65A	79567	broad.mit.edu	37	16	67576587	67576587	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr16:67576587C>A	ENST00000379312.3	+	13	2031	c.1910C>A	c.(1909-1911)aCc>aAc	p.T637N	CTD-2012K14.3_ENST00000563083.1_RNA|FAM65A_ENST00000540839.3_Missense_Mutation_p.T653N|CTD-2012K14.4_ENST00000564717.1_RNA|FAM65A_ENST00000422602.2_Missense_Mutation_p.T653N|FAM65A_ENST00000042381.4_Missense_Mutation_p.T633N|CTD-2012K14.2_ENST00000567122.1_RNA|FAM65A_ENST00000428437.2_Missense_Mutation_p.T647N	NM_001193522.1|NM_024519.3	NP_001180451.1|NP_078795.2	Q6ZS17	FA65A_HUMAN	family with sequence similarity 65, member A	637	Pro-rich.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117)		ACCCACAAAACCAGTATGTCA	0.582																																							uc010vjp.1		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(1957-1959)ACC>AAC		hypothetical protein LOC79567							304.0	260.0	275.0					16																	67576587		2198	4300	6498	SO:0001583	missense	79567					cytoplasm	binding	g.chr16:67576587C>A	AK127792	CCDS10840.1, CCDS54026.1, CCDS54027.1, CCDS54028.1	16q22.1	2008-02-05			ENSG00000039523	ENSG00000039523			25836	protein-coding gene	gene with protein product						11572484	Standard	NM_001193522		Approved	FLJ13725	uc010vjp.2	Q6ZS17	OTTHUMG00000137536	ENST00000379312.3:c.1910C>A	16.37:g.67576587C>A	ENSP00000368614:p.Thr637Asn					FAM65A_uc010cei.1_Missense_Mutation_p.T475N|FAM65A_uc002eth.2_Missense_Mutation_p.T633N|FAM65A_uc010cej.2_Missense_Mutation_p.T636N|FAM65A_uc002eti.1_Missense_Mutation_p.T596N|FAM65A_uc010vjq.1_Missense_Mutation_p.T647N|FAM65A_uc002etj.1_Missense_Mutation_p.T632N|FAM65A_uc002etk.2_Missense_Mutation_p.T632N	p.T653N	NM_024519	NP_078795	Q6ZS17	FA65A_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117)	13	2054	+		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)	637			Pro-rich.		B4DEQ9|B4DIM2|E9PBS3|Q4G0A4|Q7Z5R7|Q8NDA4|Q96J39|Q96PV8|Q9H8D9	Missense_Mutation	SNP	ENST00000379312.3	37	c.1958C>A	CCDS54028.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	7.324|7.324	0.617584|0.617584	0.14129|0.14129	.|.	.|.	ENSG00000039523|ENSG00000039523	ENST00000428437|ENST00000379312;ENST00000042381;ENST00000422602;ENST00000540839	.|T;T;T	.|0.15139	.|2.46;2.45;2.45	4.82|4.82	2.85|2.85	0.33270|0.33270	.|.	.|1.601400	.|0.02778	.|N	.|0.120582	T|T	0.09905|0.09905	0.0243|0.0243	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	.|B;B;B;B	.|0.20671	.|0.047;0.047;0.047;0.047	.|B;B;B;B	.|0.21917	.|0.017;0.017;0.017;0.037	T|T	0.27054|0.27054	-1.0085|-1.0085	5|10	.|0.27785	.|T	.|0.31	0.2627|0.2627	4.0563|4.0563	0.09818|0.09818	0.1646:0.5876:0.1594:0.0884|0.1646:0.5876:0.1594:0.0884	.|.	.|647;653;637;653	.|B4DIM2;E9PBS3;Q6ZS17;B4DEQ9	.|.;.;FA65A_HUMAN;.	K|N	627|637;633;653;647	.|ENSP00000368614:T637N;ENSP00000042381:T633N;ENSP00000400099:T653N	.|ENSP00000042381:T633N	N|T	+|+	3|2	2|0	FAM65A|FAM65A	66134088|66134088	0.001000|0.001000	0.12720|0.12720	0.000000|0.000000	0.03702|0.03702	0.019000|0.019000	0.09904|0.09904	0.502000|0.502000	0.22594|0.22594	0.589000|0.589000	0.29677|0.29677	-0.428000|-0.428000	0.05917|0.05917	AAC|ACC		0.582	FAM65A-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000268866.3	NM_024519		69	122	1	0	3.12118e-38	0.00361	4.93617e-38	69	122				
PKD1L2	114780	broad.mit.edu	37	16	81185474	81185474	+	RNA	SNP	T	T	C			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr16:81185474T>C	ENST00000525539.1	-	0	4450				PKD1L2_ENST00000533478.1_RNA	NM_052892.3	NP_443124.3	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						GAAATACCACTTCCGGTCCAT	0.527																																							uc002fgh.1		NA																	0				ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.(4450-4452)AAG>AGG		polycystin 1-like 2 isoform a							63.0	59.0	61.0					16																	81185474		1959	4148	6107			114780				neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding	g.chr16:81185474T>C	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.81185474T>C						PKD1L2_uc002fgg.1_RNA	p.K1484R	NM_052892	NP_443124	Q7Z442	PK1L2_HUMAN			27	4451	-			1484			Cytoplasmic (Potential).|PLAT.		Q6UEE1|Q6ZN46|Q6ZSP2|Q8N1H9|Q96CL2|Q96Q08	Missense_Mutation	SNP	ENST00000525539.1	37	c.4451A>G																																																																																					0.527	PKD1L2-001	KNOWN	non_canonical_polymorphism|basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000387972.2			4	35	0	0	0	0.009096	0	4	35				
PKD1L2	114780	broad.mit.edu	37	16	81194295	81194295	+	RNA	SNP	C	C	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr16:81194295C>T	ENST00000525539.1	-	0	3692				PKD1L2_ENST00000533478.1_RNA	NM_052892.3	NP_443124.3	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						TACCTGGAGCCACCATTGGTA	0.517																																							uc002fgh.1		NA																	0				ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.(3691-3693)GTG>GTA		polycystin 1-like 2 isoform a							87.0	91.0	90.0					16																	81194295		2035	4205	6240			114780				neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding	g.chr16:81194295C>T	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.81194295C>T						PKD1L2_uc002fgg.1_RNA	p.V1231V	NM_052892	NP_443124	Q7Z442	PK1L2_HUMAN			22	3693	-			1231			Extracellular (Potential).		Q6UEE1|Q6ZN46|Q6ZSP2|Q8N1H9|Q96CL2|Q96Q08	Silent	SNP	ENST00000525539.1	37	c.3693G>A																																																																																					0.517	PKD1L2-001	KNOWN	non_canonical_polymorphism|basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000387972.2			5	20	0	0	0	0.00308	0	5	20				
KCNG4	93107	broad.mit.edu	37	16	84270421	84270421	+	Missense_Mutation	SNP	G	G	C			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr16:84270421G>C	ENST00000308251.4	-	2	739	c.671C>G	c.(670-672)gCt>gGt	p.A224G	KCNG4_ENST00000568181.1_Missense_Mutation_p.A224G	NM_172347.2	NP_758857.1	Q8TDN1	KCNG4_HUMAN	potassium voltage-gated channel, subfamily G, member 4	224					protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	31						GGAGAGGCAAGCGAAGACCTT	0.682																																							uc010voc.1		NA																	0				breast(3)	3						c.(670-672)GCT>GGT		potassium voltage-gated channel, subfamily G,							40.0	40.0	40.0					16																	84270421		2200	4300	6500	SO:0001583	missense	93107					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr16:84270421G>C	AF348984	CCDS10945.1	16q24.1	2011-07-05			ENSG00000168418	ENSG00000168418		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	19697	protein-coding gene	gene with protein product		607603				12060745, 16382104	Standard	NM_172347		Approved	Kv6.4	uc010voc.2	Q8TDN1	OTTHUMG00000137638	ENST00000308251.4:c.671C>G	16.37:g.84270421G>C	ENSP00000312129:p.Ala224Gly					KCNG4_uc002fhu.1_Missense_Mutation_p.A224G	p.A224G	NM_172347	NP_758857	Q8TDN1	KCNG4_HUMAN			2	792	-			224					Q96H24	Missense_Mutation	SNP	ENST00000308251.4	37	c.671C>G	CCDS10945.1	.	.	.	.	.	.	.	.	.	.	G	29.3	4.992382	0.93167	.	.	ENSG00000168418	ENST00000308251	D	0.97480	-4.4	5.11	5.11	0.69529	.	0.000000	0.85682	D	0.000000	D	0.98707	0.9566	M	0.90542	3.125	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.99819	1.1046	10	0.87932	D	0	.	17.5437	0.87855	0.0:0.0:1.0:0.0	.	224;224	Q8TDN1;Q8TDN1-2	KCNG4_HUMAN;.	G	224	ENSP00000312129:A224G	ENSP00000312129:A224G	A	-	2	0	KCNG4	82827922	1.000000	0.71417	0.853000	0.33588	0.984000	0.73092	9.756000	0.98918	2.364000	0.80123	0.549000	0.68633	GCT		0.682	KCNG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269079.2	NM_172347		15	63	0	0	0	0.008871	0	15	63				
COX4I1	1327	broad.mit.edu	37	16	85838698	85838698	+	Nonsense_Mutation	SNP	G	G	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr16:85838698G>T	ENST00000562336.1	+	3	422	c.229G>T	c.(229-231)Gag>Tag	p.E77*	COX4I1_ENST00000568794.1_Nonsense_Mutation_p.E77*|COX4I1_ENST00000564903.1_Nonsense_Mutation_p.E77*|COX4I1_ENST00000253452.2_Nonsense_Mutation_p.E77*|COX4I1_ENST00000561569.1_Nonsense_Mutation_p.E77*|COX4I1_ENST00000570123.1_3'UTR			P13073	COX41_HUMAN	cytochrome c oxidase subunit IV isoform 1	77					cellular metabolic process (GO:0044237)|generation of precursor metabolites and energy (GO:0006091)|hydrogen ion transmembrane transport (GO:1902600)|respiratory electron transport chain (GO:0022904)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	cytochrome-c oxidase activity (GO:0004129)			endometrium(1)|large_intestine(2)|lung(5)|skin(1)	9		Renal(780;0.228)				CTCCATGGATGAGAAAGTCGA	0.602																																							uc002fje.2		NA																	0				lung(1)	1						c.(229-231)GAG>TAG		cytochrome c oxidase subunit IV isoform 1							31.0	38.0	35.0					16																	85838698		2197	4300	6497	SO:0001587	stop_gained	1327				respiratory electron transport chain	mitochondrial inner membrane|nucleus	cytochrome-c oxidase activity|protein binding	g.chr16:85838698G>T	AF005889	CCDS10955.1	16q24.1	2012-10-02	2001-11-30	2001-12-07	ENSG00000131143	ENSG00000131143	1.9.3.1	"""Mitochondrial respiratory chain complex / Complex IV"""	2265	protein-coding gene	gene with protein product		123864	"""cytochrome c oxidase subunit IV"""	COX4		2444497, 2157630	Standard	NM_001861		Approved	COX4-1	uc002fje.3	P13073	OTTHUMG00000137649	ENST00000562336.1:c.229G>T	16.37:g.85838698G>T	ENSP00000457513:p.Glu77*					COX4I1_uc002fjf.2_Nonsense_Mutation_p.E77*|COX4I1_uc002fjg.1_Nonsense_Mutation_p.E77*|COX4I1_uc010vom.1_5'UTR	p.E77*	NM_001861	NP_001852	P13073	COX41_HUMAN			3	393	+		Renal(780;0.228)	77					B2R4J2|D3DUM7|Q6P666	Nonsense_Mutation	SNP	ENST00000562336.1	37	c.229G>T	CCDS10955.1	.	.	.	.	.	.	.	.	.	.	G	37	6.280336	0.97440	.	.	ENSG00000131143	ENST00000253452	.	.	.	4.82	4.82	0.62117	.	0.100334	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-31.7248	18.2654	0.90051	0.0:0.0:1.0:0.0	.	.	.	.	X	77	.	ENSP00000253452:E77X	E	+	1	0	COX4I1	84396199	1.000000	0.71417	0.999000	0.59377	0.963000	0.63663	8.847000	0.92166	2.385000	0.81259	0.655000	0.94253	GAG		0.602	COX4I1-016	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430873.1	NM_001861		4	31	1	0	0.00909568	0.009096	0.00941286	4	31				
IRF8	3394	broad.mit.edu	37	16	85936643	85936643	+	Silent	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr16:85936643C>A	ENST00000268638.5	+	2	444	c.22C>A	c.(22-24)Cgg>Agg	p.R8R	IRF8_ENST00000563180.1_Silent_p.R8R	NM_002163.2	NP_002154.1	Q02556	IRF8_HUMAN	interferon regulatory factor 8	8					cellular response to lipopolysaccharide (GO:0071222)|cytokine-mediated signaling pathway (GO:0019221)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)|myeloid cell differentiation (GO:0030099)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|phagocytosis (GO:0006909)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|transcription from RNA polymerase II promoter (GO:0006366)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|nucleus (GO:0005634)	regulatory region DNA binding (GO:0000975)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	24		Prostate(104;0.0771)				GAATGGTGGTCGGCGGCTTCG	0.478																																							uc002fjh.2		NA																	0				breast(2)|ovary(1)	3						c.(22-24)CGG>AGG		interferon regulatory factor 8							167.0	169.0	168.0					16																	85936643		2198	4300	6498	SO:0001819	synonymous_variant	3394				interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	nucleus	DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity	g.chr16:85936643C>A	M91196	CCDS10956.1	16q24.1	2014-09-17	2004-11-12	2004-11-12	ENSG00000140968	ENSG00000140968			5358	protein-coding gene	gene with protein product		601565	"""interferon consensus sequence binding protein 1"""	ICSBP1		1460054, 11997525	Standard	NM_002163		Approved	IRF-8, ICSBP	uc002fjh.3	Q02556	OTTHUMG00000137648	ENST00000268638.5:c.22C>A	16.37:g.85936643C>A						IRF8_uc002fji.2_Silent_p.R8R	p.R8R	NM_002163	NP_002154	Q02556	IRF8_HUMAN			2	79	+		Prostate(104;0.0771)	8			IRF tryptophan pentad repeat.		A0AV82	Silent	SNP	ENST00000268638.5	37	c.22C>A	CCDS10956.1																																																																																				0.478	IRF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269100.2	NM_002163		59	160	1	0	3.12118e-38	0.00361	4.93617e-38	59	160				
ANKRD11	29123	broad.mit.edu	37	16	89352509	89352509	+	Missense_Mutation	SNP	G	G	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr16:89352509G>A	ENST00000301030.4	-	8	1290	c.830C>T	c.(829-831)cCc>cTc	p.P277L	ANKRD11_ENST00000378330.2_Missense_Mutation_p.P277L	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	277					bone development (GO:0060348)|face morphogenesis (GO:0060325)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|odontogenesis of dentin-containing tooth (GO:0042475)|skeletal system morphogenesis (GO:0048705)|tissue homeostasis (GO:0001894)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		CACCATCGTGGGGGAGTTGGC	0.577																																							uc002fmx.1		NA																	0				ovary(4)|large_intestine(1)|central_nervous_system(1)	6						c.(829-831)CCC>CTC		ankyrin repeat domain 11							166.0	155.0	159.0					16																	89352509		2198	4300	6498	SO:0001583	missense	29123					nucleus		g.chr16:89352509G>A	AY373756	CCDS32513.1	16q24.3	2013-01-10				ENSG00000167522		"""Ankyrin repeat domain containing"""	21316	protein-coding gene	gene with protein product		611192				11483580	Standard	NM_001256182		Approved	LZ16, T13	uc002fnc.2	Q6UB99		ENST00000301030.4:c.830C>T	16.37:g.89352509G>A	ENSP00000301030:p.Pro277Leu					ANKRD11_uc002fmy.1_Missense_Mutation_p.P277L|ANKRD11_uc002fnc.1_Missense_Mutation_p.P277L|ANKRD11_uc002fnb.1_Missense_Mutation_p.P234L	p.P277L	NM_013275	NP_037407	Q6UB99	ANR11_HUMAN		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)	8	1291	-		all_hematologic(23;0.00824)|Colorectal(91;0.0475)	277			ANK 4.		Q6NTG1|Q6QMF8	Missense_Mutation	SNP	ENST00000301030.4	37	c.830C>T	CCDS32513.1	.	.	.	.	.	.	.	.	.	.	G	27.3	4.816901	0.90790	.	.	ENSG00000167522	ENST00000301030;ENST00000378330;ENST00000378332	T;T	0.29655	1.56;1.56	5.9	5.9	0.94986	Ankyrin repeat-containing domain (2);	0.000000	0.85682	D	0.000000	T	0.39733	0.1089	N	0.11313	0.125	0.80722	D	1	D	0.69078	0.997	D	0.71414	0.973	T	0.46555	-0.9183	10	0.59425	D	0.04	.	20.2768	0.98488	0.0:0.0:1.0:0.0	.	277	Q6UB99	ANR11_HUMAN	L	277;277;291	ENSP00000301030:P277L;ENSP00000367581:P277L	ENSP00000301030:P277L	P	-	2	0	ANKRD11	87880010	1.000000	0.71417	0.963000	0.40424	0.776000	0.43924	7.484000	0.81180	2.797000	0.96272	0.655000	0.94253	CCC		0.577	ANKRD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430462.3	NM_013275		48	121	0	0	0	0.00361	0	48	121				
NXN	64359	broad.mit.edu	37	17	725687	725687	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr17:725687C>A	ENST00000336868.3	-	4	714	c.623G>T	c.(622-624)tGc>tTc	p.C208F	NXN_ENST00000575801.1_Missense_Mutation_p.C100F|NXN_ENST00000537628.2_5'UTR|NXN_ENST00000538650.1_5'UTR|NXN_ENST00000577098.1_5'Flank	NM_022463.4	NP_071908.2	Q6DKJ4	NXN_HUMAN	nucleoredoxin	208	Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cardiovascular system development (GO:0072358)|cell differentiation (GO:0030154)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of Wnt signaling pathway (GO:0030178)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein-disulfide reductase activity (GO:0047134)|thioredoxin-disulfide reductase activity (GO:0004791)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|ovary(2)|pancreas(1)|prostate(1)	13				UCEC - Uterine corpus endometrioid carcinoma (25;0.0237)		GAGGCTTCGGCAGGGCGGACA	0.592																																							uc002fsa.2		NA																	0				ovary(2)|breast(1)|pancreas(1)	4						c.(622-624)TGC>TTC		nucleoredoxin							82.0	62.0	69.0					17																	725687		2203	4300	6503	SO:0001583	missense	64359				cell differentiation|cell redox homeostasis|multicellular organismal development|Wnt receptor signaling pathway	cytosol|nucleus	protein-disulfide reductase activity	g.chr17:725687C>A		CCDS10998.1, CCDS56013.1	17p13	2007-08-10			ENSG00000167693	ENSG00000167693			18008	protein-coding gene	gene with protein product		612895					Standard	NM_022463		Approved	FLJ12614, NRX	uc002fsa.3	Q6DKJ4	OTTHUMG00000090307	ENST00000336868.3:c.623G>T	17.37:g.725687C>A	ENSP00000337443:p.Cys208Phe					NXN_uc002fsb.1_Missense_Mutation_p.C95F|NXN_uc010vqd.1_5'UTR|NXN_uc002frz.2_5'UTR|NXN_uc010vqe.1_Missense_Mutation_p.C100F	p.C208F	NM_022463	NP_071908	Q6DKJ4	NXN_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0237)	4	715	-			208			Thioredoxin.		B4DXQ0|D3DTH2|Q3SWW6|Q6P3U6|Q7L4C6|Q9H9Q1	Missense_Mutation	SNP	ENST00000336868.3	37	c.623G>T	CCDS10998.1	.	.	.	.	.	.	.	.	.	.	C	30	5.052929	0.93793	.	.	ENSG00000167693	ENST00000336868;ENST00000537628	D	0.84800	-1.9	5.94	5.94	0.96194	Alkyl hydroperoxide reductase subunit C/ Thiol specific antioxidant (1);Thioredoxin-like fold (3);	0.040098	0.85682	D	0.000000	D	0.96485	0.8853	H	0.99650	4.68	0.80722	D	1	D;D;D	0.76494	0.995;0.999;0.996	D;D;D	0.83275	0.929;0.996;0.996	D	0.97538	1.0084	10	0.56958	D	0.05	-19.8838	19.3475	0.94370	0.0:1.0:0.0:0.0	.	100;95;208	B4DXQ0;Q6DKJ4-2;Q6DKJ4	.;.;NXN_HUMAN	F	208;100	ENSP00000337443:C208F	ENSP00000337443:C208F	C	-	2	0	NXN	672437	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.694000	0.84235	2.816000	0.96949	0.563000	0.77884	TGC		0.592	NXN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206669.1			70	8	1	0	9.25274e-37	0.00361	1.45875e-36	70	8				
OR3A4P	390756	broad.mit.edu	37	17	3213766	3213766	+	RNA	SNP	G	G	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr17:3213766G>T	ENST00000573491.1	-	0	359																											CCATCCTTATGGAAACCAAAC	0.542																																							uc002fvi.2		NA																	0				ovary(1)	1						c.(160-162)ATG>ATT		RecName: Full=Olfactory receptor 3A4; AltName: Full=Olfactory receptor 17-24;          Short=OR17-24;							178.0	152.0	161.0					17																	3213766		2203	4300	6503			390756							g.chr17:3213766G>T																													17.37:g.3213766G>T							p.M54I	NR_024128						1	228	+									Missense_Mutation	SNP	ENST00000573491.1	37	c.162G>T																																																																																					0.542	RP11-64J4.2-001	KNOWN	basic	sense_overlapping	sense_overlapping	OTTHUMT00000438371.1			74	28	1	0	7.68447e-34	0.00361	1.1984e-33	74	28				
NLRP1	22861	broad.mit.edu	37	17	5462625	5462625	+	Missense_Mutation	SNP	T	T	G			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr17:5462625T>G	ENST00000572272.1	-	4	1390	c.1391A>C	c.(1390-1392)cAg>cCg	p.Q464P	NLRP1_ENST00000269280.4_Missense_Mutation_p.Q464P|NLRP1_ENST00000262467.5_Missense_Mutation_p.Q464P|NLRP1_ENST00000577119.1_Missense_Mutation_p.Q464P|NLRP1_ENST00000345221.3_Missense_Mutation_p.Q464P|NLRP1_ENST00000354411.3_Missense_Mutation_p.Q464P|NLRP1_ENST00000571307.1_5'UTR			Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1	464	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|defense response to bacterium (GO:0042742)|innate immune response (GO:0045087)|neuron apoptotic process (GO:0051402)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of interleukin-1 beta secretion (GO:0050718)|regulation of inflammatory response (GO:0050727)|response to muramyl dipeptide (GO:0032495)	cytosol (GO:0005829)|intracellular (GO:0005622)|NLRP1 inflammasome complex (GO:0072558)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|enzyme binding (GO:0019899)|protein domain specific binding (GO:0019904)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				AATGAGGTTCTGCAGAGCTGT	0.537																																							uc002gci.2		NA																	0				lung(4)|breast(2)|ovary(1)|central_nervous_system(1)|skin(1)	9						c.(1390-1392)CAG>CCG		NLR family, pyrin domain containing 1 isoform 1							41.0	43.0	42.0					17																	5462625		2203	4300	6503	SO:0001583	missense	22861				defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	cytoplasm|NALP1 inflammasome complex|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding	g.chr17:5462625T>G	AB023143	CCDS32537.1, CCDS42244.1, CCDS42245.1, CCDS42246.1, CCDS58508.1	17p13	2014-01-29	2006-12-08	2006-12-08	ENSG00000091592	ENSG00000091592		"""Nucleotide-binding domain and leucine rich repeat containing"""	14374	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 1"""	606636	"""NACHT, leucine rich repeat and PYD (pyrin domain) containing 1"", ""systemic lupus erythematosus, vitiligo-related 1"""	NALP1, SLEV1		8781126, 12563287, 17377159	Standard	NM_033006		Approved	KIAA0926, DKFZp586O1822, CARD7, NAC, CLR17.1, DEFCAP, VAMAS1	uc002gci.3	Q9C000		ENST00000572272.1:c.1391A>C	17.37:g.5462625T>G	ENSP00000460475:p.Gln464Pro					NLRP1_uc002gcg.1_Missense_Mutation_p.Q464P|NLRP1_uc002gck.2_Missense_Mutation_p.Q464P|NLRP1_uc002gcj.2_Missense_Mutation_p.Q464P|NLRP1_uc002gcl.2_Missense_Mutation_p.Q464P|NLRP1_uc002gch.3_Missense_Mutation_p.Q464P|NLRP1_uc010clh.2_Missense_Mutation_p.Q464P	p.Q464P	NM_033004	NP_127497	Q9C000	NALP1_HUMAN			4	1946	-		Colorectal(1115;3.48e-05)	464			NACHT.		E9PE50|I6L9D9|Q9BZZ8|Q9BZZ9|Q9H5Z7|Q9H5Z8|Q9HAV8|Q9UFT4|Q9Y2E0	Missense_Mutation	SNP	ENST00000572272.1	37	c.1391A>C	CCDS42246.1	.	.	.	.	.	.	.	.	.	.	T	18.60	3.658696	0.67586	.	.	ENSG00000091592	ENST00000544378;ENST00000262467;ENST00000269280;ENST00000354411;ENST00000345221	T;T;T;T;T	0.77489	-1.1;-1.1;-1.1;-1.1;-1.1	4.45	-5.08	0.02929	NACHT nucleoside triphosphatase (1);	1.062980	0.07498	N	0.906790	T	0.76307	0.3969	L	0.37897	1.145	0.09310	N	1	D;D;D;D;D	0.69078	0.993;0.993;0.994;0.993;0.997	P;P;D;P;D	0.68621	0.878;0.878;0.926;0.878;0.959	T	0.66897	-0.5807	10	0.87932	D	0	.	2.9279	0.05789	0.1444:0.4755:0.147:0.233	.	464;464;464;464;464	Q9C000-3;Q9C000-4;Q9C000;Q9C000-2;E9PE50	.;.;NALP1_HUMAN;.;.	P	464	ENSP00000442029:Q464P;ENSP00000262467:Q464P;ENSP00000269280:Q464P;ENSP00000346390:Q464P;ENSP00000324366:Q464P	ENSP00000262467:Q464P	Q	-	2	0	NLRP1	5403349	0.000000	0.05858	0.000000	0.03702	0.619000	0.37552	-0.097000	0.11042	-1.066000	0.03164	0.529000	0.55759	CAG		0.537	NLRP1-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439517.1	NM_033004		14	8	0	0	0	0.001855	0	14	8				
BCL6B	255877	broad.mit.edu	37	17	6930310	6930310	+	Silent	SNP	G	G	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr17:6930310G>A	ENST00000293805.5	+	8	1319	c.1227G>A	c.(1225-1227)gaG>gaA	p.E409E		NM_181844.3	NP_862827	Q8N143	BCL6B_HUMAN	B-cell CLL/lymphoma 6, member B	409					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			skin(1)	1						ACACCGGGGAGAAGCCCTACC	0.632																																							uc002geg.2		NA																	0				skin(1)	1						c.(1225-1227)GAG>GAA		B-cell CLL/lymphoma 6, member B (zinc finger							60.0	72.0	68.0					17																	6930310		2132	4264	6396	SO:0001819	synonymous_variant	255877					nucleus	zinc ion binding	g.chr17:6930310G>A	AI672318	CCDS42248.1	17p13.1	2014-06-10	2010-04-14		ENSG00000161940	ENSG00000161940		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	1002	protein-coding gene	gene with protein product		608992	"""zinc finger protein 62"", ""B-cell CLL/lymphoma 6, member B (zinc finger protein)"""	ZNF62		9632807	Standard	NM_181844		Approved	ZBTB28, BAZF	uc010clt.1	Q8N143	OTTHUMG00000177882	ENST00000293805.5:c.1227G>A	17.37:g.6930310G>A						BCL6B_uc010clt.1_Silent_p.E410E	p.E409E	NM_181844	NP_862827	Q8N143	BCL6B_HUMAN			8	1284	+			409					Q6PCB4	Silent	SNP	ENST00000293805.5	37	c.1227G>A	CCDS42248.1																																																																																				0.632	BCL6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439455.2	NM_181844		27	54	0	0	0	0.008361	0	27	54				
PHF23	79142	broad.mit.edu	37	17	7139465	7139465	+	Missense_Mutation	SNP	C	C	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr17:7139465C>T	ENST00000320316.3	-	4	1007	c.781G>A	c.(781-783)Gag>Aag	p.E261K	PHF23_ENST00000570753.1_5'Flank|DVL2_ENST00000005340.5_5'Flank|PHF23_ENST00000454255.2_Missense_Mutation_p.E257K|DVL2_ENST00000575458.1_5'Flank|PHF23_ENST00000576955.1_Missense_Mutation_p.E131K|PHF23_ENST00000571362.1_Missense_Mutation_p.E194K	NM_001284518.1|NM_024297.2	NP_001271447.1|NP_077273.2	Q9BUL5	PHF23_HUMAN	PHD finger protein 23	261	Poly-Glu.						zinc ion binding (GO:0008270)			breast(4)|kidney(2)|large_intestine(6)|lung(3)	15						GTTGCCATCtcttcttcttct	0.622																																							uc002gfa.2		NA																	0					0						c.(781-783)GAG>AAG		PHD finger protein 23							67.0	76.0	73.0					17																	7139465		2023	4195	6218	SO:0001583	missense	79142						zinc ion binding	g.chr17:7139465C>T	AK122791	CCDS42250.1, CCDS67143.1, CCDS67144.1	17p13.1	2014-08-13			ENSG00000040633	ENSG00000040633		"""Zinc fingers, PHD-type"""	28428	protein-coding gene	gene with protein product		612910					Standard	NM_024297		Approved	MGC2941, FLJ16355	uc002gfa.3	Q9BUL5	OTTHUMG00000177972	ENST00000320316.3:c.781G>A	17.37:g.7139465C>T	ENSP00000322579:p.Glu261Lys					DVL2_uc002gez.1_5'Flank|DVL2_uc010vtr.1_5'Flank|DVL2_uc010clz.1_5'Flank|PHF23_uc010vtt.1_Missense_Mutation_p.E194K|PHF23_uc010cma.2_Missense_Mutation_p.E131K	p.E261K	NM_024297	NP_077273	Q9BUL5	PHF23_HUMAN			4	1008	-			261			Poly-Glu.		A1DZ74|B3KVH8|B4DLK6|D3DTN4|Q8IZK0|Q96HG7|Q9H5X0	Missense_Mutation	SNP	ENST00000320316.3	37	c.781G>A	CCDS42250.1	.	.	.	.	.	.	.	.	.	.	C	14.90	2.672369	0.47781	.	.	ENSG00000040633	ENST00000320316;ENST00000454255	T;T	0.30981	1.52;1.51	5.18	5.18	0.71444	.	0.000000	0.37136	N	0.002230	T	0.21509	0.0518	N	0.08118	0	0.35816	D	0.824259	B;D	0.67145	0.148;0.996	B;P	0.48704	0.037;0.587	T	0.17228	-1.0376	10	0.20519	T	0.43	-7.7967	14.1706	0.65508	0.0:1.0:0.0:0.0	.	194;261	B4DLK6;Q9BUL5	.;PHF23_HUMAN	K	261;257	ENSP00000322579:E261K;ENSP00000414607:E257K	ENSP00000322579:E261K	E	-	1	0	PHF23	7080189	0.138000	0.22547	0.355000	0.25773	0.930000	0.56654	1.763000	0.38461	2.405000	0.81733	0.313000	0.20887	GAG		0.622	PHF23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440047.1	NM_024297		14	64	0	0	0	0.00245	0	14	64				
SLC35G6	643664	broad.mit.edu	37	17	7385378	7385378	+	Silent	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr17:7385378C>A	ENST00000412468.2	+	2	190	c.75C>A	c.(73-75)ctC>ctA	p.L25L	ZBTB4_ENST00000380599.4_5'Flank|POLR2A_ENST00000572844.1_5'Flank|ZBTB4_ENST00000311403.4_Intron|POLR2A_ENST00000322644.6_5'Flank	NM_001102614.1	NP_001096084.1	P0C7Q6	S35G6_HUMAN	solute carrier family 35, member G6	25						integral component of membrane (GO:0016021)											CACCCAGCCTCCGCTGGCACC	0.667																																							uc010cmj.1		NA																	0					0						c.(73-75)CTC>CTA		acyl-malonyl condensing enzyme 1-like 3							45.0	50.0	49.0					17																	7385378		2203	4299	6502	SO:0001819	synonymous_variant	643664					integral to membrane		g.chr17:7385378C>A		CCDS45603.1	17p13.1	2013-05-22	2011-08-03	2011-08-03		ENSG00000259224		"""Solute carriers"""	31351	protein-coding gene	gene with protein product			"""transmembrane protein 21B"", ""acyl-malonyl condensing enzyme 1-like 3"""	TMEM21B, AMAC1L3			Standard	NM_001102614		Approved		uc010cmj.1	P0C7Q6		ENST00000412468.2:c.75C>A	17.37:g.7385378C>A						ZBTB4_uc002ghc.3_5'Flank|ZBTB4_uc002ghd.3_Intron|POLR2A_uc002ghe.2_5'Flank|POLR2A_uc002ghf.3_5'Flank	p.L25L	NM_001102614	NP_001096084	P0C7Q6	AMCL3_HUMAN			2	190	+		Prostate(122;0.173)	25						Silent	SNP	ENST00000412468.2	37	c.75C>A	CCDS45603.1																																																																																				0.667	SLC35G6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001102614		13	66	1	0	1.62849e-17	0.004007	2.26641e-17	13	66				
TP53	7157	broad.mit.edu	37	17	7578448	7578448	+	Missense_Mutation	SNP	G	G	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr17:7578448G>A	ENST00000269305.4	-	5	671	c.482C>T	c.(481-483)gCc>gTc	p.A161V	TP53_ENST00000413465.2_Missense_Mutation_p.A161V|TP53_ENST00000359597.4_Missense_Mutation_p.A161V|TP53_ENST00000420246.2_Missense_Mutation_p.A161V|TP53_ENST00000455263.2_Missense_Mutation_p.A161V|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000445888.2_Missense_Mutation_p.A161V	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	161	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		A -> D (in sporadic cancers; somatic mutation).|A -> F (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|A -> G (in sporadic cancers; somatic mutation).|A -> P (in sporadic cancers; somatic mutation).|A -> S (in sporadic cancers; somatic mutation).|A -> T (in sporadic cancers; somatic mutation).|A -> V (in sporadic cancers; somatic mutation).|MA -> IP (in a sporadic cancer; somatic mutation).|MA -> IS (in sporadic cancers; somatic mutation).|MA -> IT (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.A161D(11)|p.0?(8)|p.A161V(8)|p.R156_I162delRVRAMAI(2)|p.V157_C176del20(1)|p.A161fs*19(1)|p.A68D(1)|p.R156_A161delRVRAMA(1)|p.P151_V173del23(1)|p.R156fs*18(1)|p.A29D(1)|p.A159_Q167delAMAIYKQSQ(1)|p.S149fs*72(1)|p.V157_I162delVRAMAI(1)|p.A161fs*7(1)|p.T155_A161delTRVRAMA(1)|p.A161T(1)|p.A161fs*8(1)|p.I162fs*8(1)|p.A161F(1)|p.A161G(1)|p.R158fs*8(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)	CTTGTAGATGGCCATGGCGCG	0.627		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)	Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	Mis|N|F	tumor protein p53			"""L, E, M, O"""		breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types		47	Substitution - Missense(24)|Whole gene deletion(8)|Deletion - In frame(8)|Deletion - Frameshift(7)	p.A161T(44)|p.A161D(8)|p.0?(7)|p.A161V(7)|p.A161A(5)|p.A161fs*9(3)|p.R156_I162delRVRAMAI(2)|p.V157_C176del20(1)|p.A161fs*19(1)|p.R156_A161delRVRAMA(1)|p.P151_V173del23(1)|p.R156fs*18(1)|p.A161fs*10(1)|p.R156_A161del(1)|p.A161fs*20(1)|p.M160_A161>IS(1)|p.A161fs*8(1)|p.A159_Q167delAMAIYKQSQ(1)|p.S149fs*72(1)|p.V157_I162delVRAMAI(1)|p.A161fs*7(1)|p.T155_A161delTRVRAMA(1)|p.A161S(1)|p.A161P(1)|p.I162fs*8(1)|p.A161F(1)|p.A161G(1)|p.R158fs*8(1)	lung(13)|ovary(5)|central_nervous_system(4)|oesophagus(4)|bone(4)|stomach(3)|haematopoietic_and_lymphoid_tissue(3)|breast(3)|large_intestine(2)|thyroid(1)|upper_aerodigestive_tract(1)|vulva(1)|cervix(1)|skin(1)|liver(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	CI023564	TP53	I		c.(481-483)GCC>GTC	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							53.0	53.0	53.0					17																	7578448		2203	4300	6503	SO:0001583	missense	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumensyndrome|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.chr17:7578448G>A	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.482C>T	17.37:g.7578448G>A	ENSP00000269305:p.Ala161Val	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.A161V|TP53_uc002gih.2_Missense_Mutation_p.A161V|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.A29V|TP53_uc010cng.1_Missense_Mutation_p.A29V|TP53_uc002gii.1_Missense_Mutation_p.A29V|TP53_uc010cnh.1_Missense_Mutation_p.A161V|TP53_uc010cni.1_Missense_Mutation_p.A161V|TP53_uc002gij.2_Missense_Mutation_p.A161V|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.A68V|TP53_uc002gio.2_Missense_Mutation_p.A29V|TP53_uc010vug.1_Missense_Mutation_p.A122V	p.A161V	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	676	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	161		MA -> IP (in a sporadic cancer; somatic mutation).|MA -> IS (in sporadic cancers; somatic mutation).|MA -> IT (in a sporadic cancer; somatic mutation).|A -> G (in sporadic cancers; somatic mutation).|A -> V (in sporadic cancers; somatic mutation).|A -> D (in sporadic cancers; somatic mutation).|A -> P (in sporadic cancers; somatic mutation).|A -> S (in sporadic cancers; somatic mutation).|A -> F (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|A -> T (in sporadic cancers; somatic mutation).	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.482C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	18.65	3.669051	0.67814	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315;ENST00000508793	D;D;D;D;D;D;D;D;D	0.99820	-6.93;-6.93;-6.93;-6.93;-6.93;-6.93;-6.93;-6.93;-6.93	5.59	4.63	0.57726	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	0.99667	0.9876	L	0.59436	1.845	0.54753	D	0.999987	D;D;P;D;D;D;D	0.89917	1.0;1.0;0.92;0.993;1.0;1.0;1.0	D;D;P;D;D;D;D	0.97110	0.998;0.999;0.696;0.956;0.999;1.0;1.0	D	0.97432	1.0016	10	0.72032	D	0.01	-25.6622	12.6491	0.56751	0.0804:0.0:0.9196:0.0	.	122;161;161;68;161;161;161	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	V	161;161;161;161;161;161;150;68;29;68;29;161	ENSP00000410739:A161V;ENSP00000352610:A161V;ENSP00000269305:A161V;ENSP00000398846:A161V;ENSP00000391127:A161V;ENSP00000391478:A161V;ENSP00000425104:A29V;ENSP00000423862:A68V;ENSP00000424104:A161V	ENSP00000269305:A161V	A	-	2	0	TP53	7519173	1.000000	0.71417	1.000000	0.80357	0.106000	0.19336	9.813000	0.99286	1.514000	0.48869	-0.140000	0.14226	GCC		0.627	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		35	35	0	0	0	0.00361	0	35	35				
TP53	7157	broad.mit.edu	37	17	7579312	7579312	+	Splice_Site	SNP	C	C	A	rs55863639		TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr17:7579312C>A	ENST00000269305.4	-	4	564	c.375G>T	c.(373-375)acG>acT	p.T125T	TP53_ENST00000413465.2_Splice_Site_p.T125T|TP53_ENST00000359597.4_Splice_Site_p.T125T|TP53_ENST00000420246.2_Splice_Site_p.T125T|TP53_ENST00000455263.2_Splice_Site_p.T125T|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000445888.2_Splice_Site_p.T125T	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	125	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		T -> A (in a sporadic cancer; somatic mutation).|T -> K (in sporadic cancers; somatic mutation).|T -> M (in sporadic cancers; somatic mutation).|T -> P (in a sporadic cancer; somatic mutation).|T -> R (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.T125T(51)|p.0?(8)|p.?(2)|p.V73fs*9(1)|p.G105_T125del21(1)|p.Y126fs*11(1)|p.P13fs*18(1)|p.T125_Y126insX(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)	GGCAACTGACCGTGCAAGTCA	0.537		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)	Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	Mis|N|F	tumor protein p53			"""L, E, M, O"""		breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types		66	Substitution - coding silent(51)|Whole gene deletion(8)|Deletion - Frameshift(3)|Unknown(2)|Deletion - In frame(1)|Insertion - In frame(1)	p.T125T(15)|p.0?(7)|p.T125M(7)|p.T125K(3)|p.T125R(3)|p.?(2)|p.V73fs*9(1)|p.T125P(1)|p.G105_T125del21(1)|p.Y126fs*11(1)|p.T125fs*45(1)|p.T125fs*24(1)|p.T125A(1)|p.P13fs*18(1)|p.T125_Y126insX(1)	lung(21)|haematopoietic_and_lymphoid_tissue(14)|large_intestine(8)|upper_aerodigestive_tract(7)|bone(4)|central_nervous_system(3)|biliary_tract(3)|stomach(1)|liver(1)|urinary_tract(1)|kidney(1)|ovary(1)|pancreas(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	GRCh37	CS004351|CS011573|CS971913	TP53	S	rs55863639	c.(373-375)ACG>ACT	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							66.0	61.0	63.0					17																	7579312		2203	4300	6503	SO:0001630	splice_region_variant	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumensyndrome|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.chr17:7579312C>A	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.375+1G>T	17.37:g.7579312C>A		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_Silent_p.T125T|TP53_uc002gih.2_Silent_p.T125T|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_5'Flank|TP53_uc010cng.1_5'Flank|TP53_uc002gii.1_5'Flank|TP53_uc010cnh.1_Silent_p.T125T|TP53_uc010cni.1_Silent_p.T125T|TP53_uc002gij.2_Silent_p.T125T|TP53_uc010cnj.1_5'Flank|TP53_uc002gin.2_Intron|TP53_uc002gio.2_Intron|TP53_uc010vug.1_Silent_p.T86T|TP53_uc010cnk.1_Silent_p.T140T	p.T125T	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	4	569	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	125		T -> A (in a sporadic cancer; somatic mutation).|T -> M (in sporadic cancers; somatic mutation).|T -> R (in sporadic cancers; somatic mutation).|T -> P (in a sporadic cancer; somatic mutation).|T -> K (in sporadic cancers; somatic mutation).	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Silent	SNP	ENST00000269305.4	37	c.375G>T	CCDS11118.1																																																																																				0.537	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	Silent	41	34	1	0	4.78724e-31	0.00361	7.3521e-31	41	34				
KCNAB3	9196	broad.mit.edu	37	17	7831100	7831100	+	Splice_Site	SNP	C	C	G			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr17:7831100C>G	ENST00000303790.2	-	2	286		c.e2+1		RP11-1099M24.7_ENST00000573621.1_Splice_Site	NM_004732.3	NP_004723.2	O43448	KCAB3_HUMAN	potassium voltage-gated channel, shaker-related subfamily, beta member 3						potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel regulator activity (GO:0015459)|voltage-gated potassium channel activity (GO:0005249)			breast(2)|endometrium(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)	8		Prostate(122;0.157)				TTCTGACTCACCTAGGCCAAG	0.522																																							uc002gjm.1		NA																	0				ovary(1)	1						c.e2+1		potassium voltage-gated channel, shaker-related							181.0	179.0	179.0					17																	7831100		2203	4300	6503	SO:0001630	splice_region_variant	9196					cytoplasm|integral to membrane	oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity	g.chr17:7831100C>G	AF016411	CCDS11124.1	17p13.1	2006-11-29			ENSG00000170049	ENSG00000170049		"""Potassium channels"", ""Aldo-keto reductases"""	6230	protein-coding gene	gene with protein product		604111				9857044	Standard	NM_004732		Approved	AKR6A9, KCNA3B	uc002gjm.2	O43448	OTTHUMG00000108170	ENST00000303790.2:c.286+1G>C	17.37:g.7831100C>G						KCNAB3_uc010vul.1_Splice_Site	p.G96_splice	NM_004732	NP_004723	O43448	KCAB3_HUMAN			2	286	-		Prostate(122;0.157)						Q4VAW0	Splice_Site	SNP	ENST00000303790.2	37	c.286_splice	CCDS11124.1	.	.	.	.	.	.	.	.	.	.	C	19.46	3.830906	0.71258	.	.	ENSG00000170049	ENST00000303790	.	.	.	5.5	5.5	0.81552	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.5425	0.84405	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	KCNAB3	7771825	1.000000	0.71417	1.000000	0.80357	0.900000	0.52787	6.743000	0.74848	2.591000	0.87537	0.655000	0.94253	.		0.522	KCNAB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226974.1	NM_004732	Intron	24	150	0	0	0	0.00632	0	24	150				
MYH8	4626	broad.mit.edu	37	17	10298475	10298475	+	Missense_Mutation	SNP	T	T	C			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr17:10298475T>C	ENST00000403437.2	-	34	5031	c.4937A>G	c.(4936-4938)tAc>tGc	p.Y1646C	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1646					ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|skeletal muscle contraction (GO:0003009)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|myosin light chain binding (GO:0032027)|structural constituent of muscle (GO:0008307)	p.Y1646C(1)		NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						GGTGTTCCTGTAGTTCCTTAA	0.458									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling																														uc002gmm.2		NA																	1	Substitution - Missense(1)		kidney(1)	skin(6)|ovary(3)|breast(2)	11						c.(4936-4938)TAC>TGC		myosin, heavy chain 8, skeletal muscle,							258.0	249.0	252.0					17																	10298475		2203	4300	6503	SO:0001583	missense	4626	Trismus-Pseudocamptodactyly_Syndrome_with_Cardiac_Myxoma_and_Freckling	Familial Cancer Database	Carney Complex Variant	muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	g.chr17:10298475T>C		CCDS11153.1	17p13.1	2013-09-19	2006-09-29		ENSG00000133020	ENSG00000133020		"""Myosins / Myosin superfamily : Class II"""	7578	protein-coding gene	gene with protein product		160741	"""myosin, heavy polypeptide 8, skeletal muscle, perinatal"""			2373371	Standard	NM_002472		Approved	MyHC-peri, MyHC-pn	uc002gmm.2	P13535	OTTHUMG00000130361	ENST00000403437.2:c.4937A>G	17.37:g.10298475T>C	ENSP00000384330:p.Tyr1646Cys					uc002gml.1_Intron	p.Y1646C	NM_002472	NP_002463	P13535	MYH8_HUMAN			34	5032	-			1646			Potential.		Q14910	Missense_Mutation	SNP	ENST00000403437.2	37	c.4937A>G	CCDS11153.1	.	.	.	.	.	.	.	.	.	.	T	17.52	3.410943	0.62399	.	.	ENSG00000133020	ENST00000252173;ENST00000403437	T	0.77620	-1.11	4.85	4.85	0.62838	Myosin tail (1);	0.530523	0.13713	U	0.367974	T	0.68293	0.2985	N	0.08118	0	0.37689	D	0.923785	P	0.39216	0.664	P	0.48677	0.586	T	0.72232	-0.4353	10	0.72032	D	0.01	.	8.2493	0.31708	0.3085:0.0:0.0:0.6915	.	1646	P13535	MYH8_HUMAN	C	1646	ENSP00000384330:Y1646C	ENSP00000252173:Y1646C	Y	-	2	0	MYH8	10239200	1.000000	0.71417	1.000000	0.80357	0.818000	0.46254	5.421000	0.66447	2.039000	0.60335	0.528000	0.53228	TAC		0.458	MYH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252724.2	NM_002472		6	106	0	0	0	0.00308	0	6	106				
PIGL	9487	broad.mit.edu	37	17	16220021	16220021	+	Missense_Mutation	SNP	C	C	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr17:16220021C>T	ENST00000225609.5	+	5	538	c.521C>T	c.(520-522)cCt>cTt	p.P174L	PIGL_ENST00000395844.4_Intron|PIGL_ENST00000581006.1_Intron|PIGL_ENST00000498772.2_Missense_Mutation_p.P174L	NM_004278.3	NP_004269.1	Q9Y2B2	PIGL_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class L	174					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	N-acetylglucosaminylphosphatidylinositol deacetylase activity (GO:0000225)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)	11				UCEC - Uterine corpus endometrioid carcinoma (92;0.0934)		GGGAAGTTACCTAAAGGTAAG	0.493																																							uc002gpv.2		NA																	0					0						c.(520-522)CCT>CTT		phosphatidylinositol glycan anchor biosynthesis,							109.0	87.0	94.0					17																	16220021		2203	4300	6503	SO:0001583	missense	9487				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	N-acetylglucosaminylphosphatidylinositol deacetylase activity	g.chr17:16220021C>T	AB017165	CCDS11176.1	17p12-p11.2	2013-02-26	2006-06-28		ENSG00000108474	ENSG00000108474	3.5.1.89	"""Phosphatidylinositol glycan anchor biosynthesis"""	8966	protein-coding gene	gene with protein product	"""N-acetylglucosaminylphosphatidylinositol deacetylase"""	605947	"""phosphatidylinositol glycan, class L"""			10085243	Standard	NM_004278		Approved		uc002gpv.3	Q9Y2B2	OTTHUMG00000059346	ENST00000225609.5:c.521C>T	17.37:g.16220021C>T	ENSP00000225609:p.Pro174Leu					PIGL_uc010vwd.1_Missense_Mutation_p.P174L	p.P174L	NM_004278	NP_004269	Q9Y2B2	PIGL_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0934)	5	553	+			174			Cytoplasmic (Potential).		A8KA67|B4DYN4	Missense_Mutation	SNP	ENST00000225609.5	37	c.521C>T	CCDS11176.1	.	.	.	.	.	.	.	.	.	.	C	17.48	3.399060	0.62177	.	.	ENSG00000108474	ENST00000225609	T	0.80033	-1.33	4.86	4.86	0.63082	Putative deacetylase LmbE-like domain (2);	0.104016	0.64402	D	0.000003	D	0.83830	0.5339	M	0.77486	2.375	0.80722	D	1	D;P	0.55605	0.972;0.933	P;B	0.48304	0.573;0.307	D	0.84486	0.0608	10	0.40728	T	0.16	-8.2559	15.8582	0.79000	0.0:1.0:0.0:0.0	.	174;174	B4DYN4;Q9Y2B2	.;PIGL_HUMAN	L	174	ENSP00000225609:P174L	ENSP00000225609:P174L	P	+	2	0	PIGL	16160746	1.000000	0.71417	1.000000	0.80357	0.905000	0.53344	4.186000	0.58337	2.702000	0.92279	0.655000	0.94253	CCT		0.493	PIGL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131881.1			26	54	0	0	0	0.003271	0	26	54				
EVPLL	645027	broad.mit.edu	37	17	18286156	18286157	+	Nonsense_Mutation	DNP	GG	GG	CT			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	GG	GG	-	-	GG	GG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr17:18286156_18286157GG>CT	ENST00000399134.4	+	6	847_848	c.489_490GG>CT	c.(487-492)ccGGag>ccCTag	p.E164*	RP1-37N7.1_ENST00000579352.1_RNA	NM_001145127.1	NP_001138599.1	A8MZ36	EVPLL_HUMAN	envoplakin-like	164										NS(1)|endometrium(1)|large_intestine(1)|lung(2)	5						GCCACCATCCGGAGCCAATACC	0.678																																							uc002gte.2		NA																	0					0						c.(487-492)CCGGAG>CCCTAG		envoplakin-like																																				SO:0001587	stop_gained	645027							g.chr17:18286156_18286157GG>CT		CCDS45626.1	17p11.2	2009-08-25			ENSG00000214860	ENSG00000214860			35236	protein-coding gene	gene with protein product							Standard	NM_001145127		Approved		uc002gte.3	A8MZ36	OTTHUMG00000059095	Exception_encountered	17.37:g.18286156_18286157delinsCT	ENSP00000382086:p.Glu164*						p.E164*	NM_001145127	NP_001138599	A8MZ36	EVPLL_HUMAN			6	744_745	+			164					B4DPD4	Nonsense_Mutation	DNP	ENST00000399134.4	37	c.489_490GG>CT	CCDS45626.1																																																																																				0.678	EVPLL-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000130836.2	NM_001145127		6	32	0	0	0	0.004672	0	6	32				
FAM83G	644815	broad.mit.edu	37	17	18882139	18882139	+	Silent	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr17:18882139C>A	ENST00000388995.6	-	5	1063	c.840G>T	c.(838-840)acG>acT	p.T280T	FAM83G_ENST00000585154.2_Silent_p.T280T|SLC5A10_ENST00000395642.1_Intron|SLC5A10_ENST00000317977.6_Intron|SLC5A10_ENST00000395643.2_Intron|FAM83G_ENST00000345041.4_Silent_p.T280T|SLC5A10_ENST00000395645.3_Intron|SLC5A10_ENST00000395647.2_Intron|SLC5A10_ENST00000417251.2_Intron			A6ND36	FA83G_HUMAN	family with sequence similarity 83, member G	280					BMP signaling pathway (GO:0030509)	cytosol (GO:0005829)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1)	22						CATTCCGGTCCGTCCGCGCGG	0.637																																							uc002guw.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(838-840)ACG>ACT		hypothetical protein LOC644815							44.0	49.0	48.0					17																	18882139		2157	4248	6405	SO:0001819	synonymous_variant	644815							g.chr17:18882139C>A	AK123558	CCDS42276.1	17p11.2	2014-05-01	2006-03-22		ENSG00000188522	ENSG00000188522			32554	protein-coding gene	gene with protein product	"""protein associated with SMAD1"""	615886				24554596	Standard	NM_001039999		Approved	FLJ41564, PAWS1	uc002guw.3	A6ND36	OTTHUMG00000059411	ENST00000388995.6:c.840G>T	17.37:g.18882139C>A						SLC5A10_uc002gur.1_Intron|SLC5A10_uc002guu.1_Intron|SLC5A10_uc002gut.1_Intron|SLC5A10_uc002guv.1_Intron|SLC5A10_uc010vyl.1_Intron	p.T280T	NM_001039999	NP_001035088	A6ND36	FA83G_HUMAN			5	1007	-			280					Q3KQZ4|Q6ZW60	Silent	SNP	ENST00000388995.6	37	c.840G>T	CCDS42276.1																																																																																				0.637	FAM83G-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253108.4			16	87	1	0	2.94398e-08	0.007413	3.49468e-08	16	87				
MAP2K3	5606	broad.mit.edu	37	17	21201792	21201792	+	Splice_Site	SNP	G	G	C	rs368105298		TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr17:21201792G>C	ENST00000342679.4	+	2	365		c.e2+1		MAP2K3_ENST00000361818.5_Splice_Site|MAP2K3_ENST00000316920.6_Splice_Site	NM_145109.2	NP_659731.1	P46734	MP2K3_HUMAN	mitogen-activated protein kinase kinase 3						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)		CCAACCCCACGTGAGTCTGCC	0.577																																							uc002gys.2		NA																	0					0						c.e2+1		mitogen-activated protein kinase kinase 3							202.0	174.0	183.0					17																	21201792		2203	4300	6503	SO:0001630	splice_region_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.chr17:21201792G>C	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.116+1G>C	17.37:g.21201792G>C						MAP2K3_uc002gyt.2_Splice_Site_p.T10_splice|MAP2K3_uc002gyu.2_Splice_Site_p.T10_splice	p.T39_splice	NM_145109	NP_659731	P46734	MP2K3_HUMAN		COAD - Colon adenocarcinoma(3;0.0131)|Colorectal(15;0.0553)	2	381	+								B3KSK7|Q99441|Q9UE71|Q9UE72	Splice_Site	SNP	ENST00000342679.4	37	c.116_splice	CCDS11217.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.232609	0.79688	.	.	ENSG00000034152	ENST00000342679;ENST00000395491;ENST00000361818;ENST00000526076;ENST00000316920	.	.	.	5.67	5.67	0.87782	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.8621	0.86021	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MAP2K3	21142385	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	3.020000	0.49643	2.837000	0.97791	0.655000	0.94253	.		0.577	MAP2K3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259374.2	NM_145109	Intron	11	309	0	0	0	0.00245	0	11	309				
UBBP4	23666	broad.mit.edu	37	17	21730858	21730858	+	Missense_Mutation	SNP	C	C	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr17:21730858C>T	ENST00000578713.1	+	1	164	c.160C>T	c.(160-162)Cgc>Tgc	p.R54C	UBBP4_ENST00000584755.1_Missense_Mutation_p.R54C|UBBP4_ENST00000584398.1_Intron|UBBP4_ENST00000583708.1_Intron					ubiquitin B pseudogene 4											endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						GGAAGATGGCCGCAGTCTTTC	0.517																																							uc002gyy.3		NA																	0					NA						c.(160-162)CGC>TGC		SubName: Full=cDNA FLJ51326, highly similar to Homo sapiens ubiquitin B (UBB), mRNA;																																				SO:0001583	missense	0							g.chr17:21730858C>T	X07499		17p11.2	2011-08-10				ENSG00000263563			12467	pseudogene	pseudogene						2834222	Standard	NG_002285		Approved		uc002gyy.3			ENST00000578713.1:c.160C>T	17.37:g.21730858C>T	ENSP00000464265:p.Arg54Cys						p.R54C							2	285	+									Missense_Mutation	SNP	ENST00000578713.1	37	c.160C>T																																																																																					0.517	UBBP4-004	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000444589.2			6	55	0	0	0	0.001984	0	6	55				
NOS2	4843	broad.mit.edu	37	17	26125764	26125764	+	Silent	SNP	G	G	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr17:26125764G>A	ENST00000313735.6	-	2	305	c.72C>T	c.(70-72)atC>atT	p.I24I		NM_000625.4	NP_000616.3	P35228	NOS2_HUMAN	nitric oxide synthase 2, inducible	24					arginine catabolic process (GO:0006527)|blood coagulation (GO:0007596)|cellular response to interferon-gamma (GO:0071346)|cellular response to lipopolysaccharide (GO:0071222)|circadian rhythm (GO:0007623)|defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|inflammatory response (GO:0006954)|innate immune response in mucosa (GO:0002227)|interaction with host (GO:0051701)|negative regulation of blood pressure (GO:0045776)|negative regulation of gene expression (GO:0010629)|negative regulation of protein catabolic process (GO:0042177)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide mediated signal transduction (GO:0007263)|peptidyl-cysteine S-nitrosylation (GO:0018119)|phagosome maturation (GO:0090382)|positive regulation of guanylate cyclase activity (GO:0031284)|positive regulation of killing of cells of other organism (GO:0051712)|positive regulation of leukocyte mediated cytotoxicity (GO:0001912)|positive regulation of vasodilation (GO:0045909)|regulation of cell proliferation (GO:0042127)|regulation of cellular respiration (GO:0043457)|regulation of insulin secretion (GO:0050796)|response to bacterium (GO:0009617)|response to hypoxia (GO:0001666)|superoxide metabolic process (GO:0006801)	cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|peroxisome (GO:0005777)	arginine binding (GO:0034618)|flavin adenine dinucleotide binding (GO:0050660)|FMN binding (GO:0010181)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|NADP binding (GO:0050661)|NADPH-hemoprotein reductase activity (GO:0003958)|nitric-oxide synthase activity (GO:0004517)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|tetrahydrobiopterin binding (GO:0034617)			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	56					Dexamethasone(DB01234)|Doxorubicin(DB00997)|L-Arginine(DB00125)|L-Citrulline(DB00155)|Miconazole(DB01110)|Triflusal(DB08814)	CATTGTTGTTGATGTCTTTTT	0.507																																							uc002gzu.2		NA																	0				skin(2)|ovary(1)|breast(1)	4						c.(70-72)ATC>ATT		nitric oxide synthase 2A	Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155)						247.0	228.0	234.0					17																	26125764		2203	4300	6503	SO:0001819	synonymous_variant	4843				arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process	cytosol|nucleus	arginine binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding	g.chr17:26125764G>A	U20141	CCDS11223.1	17q11.2	2014-06-12	2008-09-16	2008-09-16	ENSG00000007171	ENSG00000007171	1.14.13.39		7873	protein-coding gene	gene with protein product		163730	"""nitric oxide synthase 2A (inducible, hepatocytes)"""	NOS2A		7682706	Standard	NM_000625		Approved	iNOS, NOS, HEP-NOS	uc002gzu.3	P35228	OTTHUMG00000132445	ENST00000313735.6:c.72C>T	17.37:g.26125764G>A						NOS2_uc010crh.1_Silent_p.I24I|NOS2_uc010wab.1_Silent_p.I24I	p.I24I	NM_000625	NP_000616	P35228	NOS2_HUMAN			2	336	-			24					A1L3U5|B7ZLY2|O60757|O94994|Q16263|Q16692|Q4TTS5|Q9UD42	Silent	SNP	ENST00000313735.6	37	c.72C>T	CCDS11223.1																																																																																				0.507	NOS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255597.1	NM_000625		9	65	0	0	0	0.001368	0	9	65				
VTN	7448	broad.mit.edu	37	17	26699056	26699056	+	5'Flank	SNP	G	G	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr17:26699056G>T	ENST00000226218.4	-	0	0				CTB-96E2.3_ENST00000591482.1_RNA|TMEM199_ENST00000509083.1_Intron|SARM1_ENST00000379061.4_Intron|SARM1_ENST00000457710.3_5'UTR|VTN_ENST00000536498.1_5'Flank	NM_000638.3	NP_000629.3	P04004	VTNC_HUMAN	vitronectin						cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell-matrix adhesion (GO:0007160)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|immune response (GO:0006955)|innate immune response (GO:0045087)|negative regulation of blood coagulation (GO:0030195)|negative regulation of endopeptidase activity (GO:0010951)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein binding (GO:0032092)|positive regulation of receptor-mediated endocytosis (GO:0048260)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|positive regulation of wound healing (GO:0090303)|regulation of complement activation (GO:0030449)|smooth muscle cell-matrix adhesion (GO:0061302)	alphav-beta3 integrin-vitronectin complex (GO:0071062)|blood microparticle (GO:0072562)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix binding (GO:0050840)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			kidney(2)|large_intestine(7)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	13	all_lung(13;0.000533)|Lung NSC(42;0.00171)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)	Abciximab(DB00054)	CCGCGCCCATGGTCCTGACGC	0.716																																							uc010crl.1		NA																	0					0						c.(1-3)ATG>ATT		sterile alpha and TIR motif containing 1							3.0	3.0	3.0					17																	26699056		1584	3458	5042	SO:0001631	upstream_gene_variant	23098				innate immune response	cytoplasm|intrinsic to membrane	binding|transmembrane receptor activity	g.chr17:26699056G>T	BC005046	CCDS11229.1	17q11.2	2014-08-08	2006-02-10		ENSG00000109072	ENSG00000109072		"""Endogenous ligands"""	12724	protein-coding gene	gene with protein product	"""serum spreading factor"", ""somatomedin B"", ""complement S-protein"""	193190	"""vitronectin (serum spreading factor, somatomedin B, complement S-protein)"""			2447940	Standard	NM_000638		Approved	VN	uc002hbc.3	P04004	OTTHUMG00000132500		17.37:g.26699056G>T	Exception_encountered					SARM1_uc010wah.1_Intron|SARM1_uc010waj.1_Intron|VTN_uc002hbc.2_5'Flank	p.M1I	NM_015077	NP_055892	Q6SZW1	SARM1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (53;0.154)	1	70	+	all_lung(13;0.000533)|Lung NSC(42;0.00171)		1					B2R7G0|P01141|Q9BSH7	Missense_Mutation	SNP	ENST00000226218.4	37	c.3G>T	CCDS11229.1	.	.	.	.	.	.	.	.	.	.	G	10.36	1.328239	0.24080	.	.	ENSG00000004139	ENST00000457710	.	.	.	5.16	5.16	0.70880	.	0.089830	0.85682	D	0.000000	T	0.59101	0.2169	.	.	.	0.80722	D	1	B	0.25667	0.131	B	0.21546	0.035	T	0.60383	-0.7274	8	0.87932	D	0	-18.2659	18.6416	0.91397	0.0:0.0:1.0:0.0	.	1	Q6SZW1	SARM1_HUMAN	I	1	.	ENSP00000406738:M1I	M	+	3	0	SARM1	23723183	1.000000	0.71417	1.000000	0.80357	0.112000	0.19704	6.691000	0.74573	2.402000	0.81655	0.455000	0.32223	ATG		0.716	VTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255680.2	NM_000638		4	2	1	0	1.23904e-05	0.000602	1.37686e-05	4	2				
NEK8	284086	broad.mit.edu	37	17	27061141	27061141	+	Missense_Mutation	SNP	T	T	C			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr17:27061141T>C	ENST00000268766.6	+	2	222	c.188T>C	c.(187-189)gTc>gCc	p.V63A	AC010761.6_ENST00000584779.1_RNA|NEK8_ENST00000593261.1_3'UTR	NM_178170.2	NP_835464.1	Q86SG6	NEK8_HUMAN	NIMA-related kinase 8	63	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				organ morphogenesis (GO:0009887)|regulation of hippo signaling (GO:0035330)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|primary cilium (GO:0072372)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Lung NSC(42;0.0158)					CACCCCAATGTCATTGAGTAC	0.542																																					NSCLC(6;19 293 14866 25253 49845)	NSCLC(6;19 293 14866 25253 49845)	uc002hcp.2		NA																	0				stomach(2)|ovary(1)|pancreas(1)|liver(1)|skin(1)	6						c.(187-189)GTC>GCC		NIMA-related kinase 8							126.0	112.0	116.0					17																	27061141		2203	4300	6503	SO:0001583	missense	284086					cytoplasm|primary cilium	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr17:27061141T>C	AY267371	CCDS32597.1	17q11.1	2012-11-15	2012-11-15			ENSG00000160602			13387	protein-coding gene	gene with protein product		609799	"""NIMA (never in mitosis gene a)- related kinase 8"""			18199800	Standard	NM_178170		Approved	NPHP9	uc002hcp.3	Q86SG6		ENST00000268766.6:c.188T>C	17.37:g.27061141T>C	ENSP00000268766:p.Val63Ala						p.V63A	NM_178170	NP_835464	Q86SG6	NEK8_HUMAN			2	188	+	Lung NSC(42;0.0158)		63			Protein kinase.		A6NIC5|Q14CL7|Q2M1S6|Q8NDH1	Missense_Mutation	SNP	ENST00000268766.6	37	c.188T>C	CCDS32597.1	.	.	.	.	.	.	.	.	.	.	T	25.7	4.665231	0.88251	.	.	ENSG00000160602	ENST00000543014;ENST00000268766	T;T	0.30981	1.51;1.51	4.79	4.79	0.61399	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.062431	0.64402	D	0.000004	T	0.49779	0.1577	M	0.92412	3.305	0.47407	D	0.999414	P	0.40578	0.722	B	0.43445	0.42	T	0.63247	-0.6680	10	0.87932	D	0	.	13.5387	0.61662	0.0:0.0:0.0:1.0	.	63	Q86SG6	NEK8_HUMAN	A	63	ENSP00000465859:V63A;ENSP00000268766:V63A	ENSP00000268766:V63A	V	+	2	0	NEK8	24085268	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.746000	0.85057	1.790000	0.52503	0.260000	0.18958	GTC		0.542	NEK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446467.2			71	75	0	0	0	0.00361	0	71	75				
EVI2B	2124	broad.mit.edu	37	17	29632234	29632234	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr17:29632234G>T	ENST00000330927.4	-	2	548	c.394C>A	c.(394-396)Cgt>Agt	p.R132S	NF1_ENST00000356175.3_Intron|CTD-2370N5.3_ENST00000578584.1_3'UTR|NF1_ENST00000358273.4_Intron|EVI2B_ENST00000577894.1_Missense_Mutation_p.R132S|EVI2B_ENST00000544462.1_Missense_Mutation_p.R147S	NM_006495.3	NP_006486.3	P34910	EVI2B_HUMAN	ecotropic viral integration site 2B	132						integral component of plasma membrane (GO:0005887)		p.0?(8)|p.?(3)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1)	12		all_cancers(10;6.97e-11)|all_epithelial(10;0.0051)|all_hematologic(16;0.0149)|Breast(31;0.0155)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|all_lung(9;0.0468)|Lung NSC(157;0.094)		UCEC - Uterine corpus endometrioid carcinoma (4;6.64e-05)|all cancers(4;6.88e-13)|Epithelial(4;8.95e-12)|OV - Ovarian serous cystadenocarcinoma(4;1.01e-11)|GBM - Glioblastoma multiforme(4;0.184)		GTAGAAGTACGGGCAGATGGT	0.443																																							uc002hgk.2		NA																	11	Whole gene deletion(8)|Unknown(3)		soft_tissue(7)|autonomic_ganglia(2)|lung(1)|central_nervous_system(1)	ovary(2)	2						c.(394-396)CGT>AGT		ecotropic viral integration site 2B precursor							492.0	392.0	426.0					17																	29632234		2203	4300	6503	SO:0001583	missense	2124					cytoplasm|integral to plasma membrane		g.chr17:29632234G>T		CCDS11266.1	17q11.2	2011-08-11			ENSG00000185862	ENSG00000185862		"""CD molecules"""	3500	protein-coding gene	gene with protein product		158381				1903357	Standard	NM_006495		Approved	D17S376, EVDB, CD361	uc002hgk.2	P34910	OTTHUMG00000132869	ENST00000330927.4:c.394C>A	17.37:g.29632234G>T	ENSP00000333779:p.Arg132Ser					NF1_uc002hgg.2_Intron|NF1_uc002hgh.2_Intron|NF1_uc002hgi.1_Intron|NF1_uc010cso.2_Intron|EVI2B_uc010csq.2_Missense_Mutation_p.R147S	p.R132S	NM_006495	NP_006486	P34910	EVI2B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;6.64e-05)|all cancers(4;6.88e-13)|Epithelial(4;8.95e-12)|OV - Ovarian serous cystadenocarcinoma(4;1.01e-11)|GBM - Glioblastoma multiforme(4;0.184)	2	549	-		all_cancers(10;6.97e-11)|all_epithelial(10;0.0051)|all_hematologic(16;0.0149)|Breast(31;0.0155)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|all_lung(9;0.0468)|Lung NSC(157;0.094)	132			Extracellular (Potential).		B7Z4A7	Missense_Mutation	SNP	ENST00000330927.4	37	c.394C>A	CCDS11266.1	.	.	.	.	.	.	.	.	.	.	G	8.809	0.934668	0.18206	.	.	ENSG00000185862	ENST00000330927;ENST00000544462	T;T	0.44083	0.93;0.93	4.99	-1.41	0.08941	.	2.036250	0.02285	N	0.069777	T	0.20047	0.0482	N	0.08118	0	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.01281	0.0;0.0	T	0.07252	-1.0782	10	0.21540	T	0.41	-0.4628	1.694	0.02858	0.1819:0.3003:0.3642:0.1536	.	147;132	B7Z4A7;P34910	.;EVI2B_HUMAN	S	132;147	ENSP00000333779:R132S;ENSP00000439738:R147S	ENSP00000333779:R132S	R	-	1	0	EVI2B	26656360	0.000000	0.05858	0.000000	0.03702	0.045000	0.14185	0.313000	0.19415	-0.131000	0.11578	0.561000	0.74099	CGT		0.443	EVI2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256349.2	NM_006495		50	262	1	0	1.88225e-35	0.00361	2.94906e-35	50	262				
RHBDL3	162494	broad.mit.edu	37	17	30648077	30648077	+	Silent	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr17:30648077C>A	ENST00000269051.4	+	9	1058	c.1044C>A	c.(1042-1044)gcC>gcA	p.A348A	RHBDL3_ENST00000538145.1_Silent_p.A340A|RHBDL3_ENST00000536287.1_Silent_p.A250A	NM_138328.2	NP_612201.1	P58872	RHBL3_HUMAN	rhomboid, veinlet-like 3 (Drosophila)	348						integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|serine-type endopeptidase activity (GO:0004252)			breast(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(2)|skin(1)	16		Breast(31;0.116)|Ovarian(249;0.182)				GTGGCGTGGCCGTGGGCATCA	0.637																																							uc002hhe.1		NA																	0				ovary(1)	1						c.(1042-1044)GCC>GCA		rhomboid protease 3							159.0	131.0	141.0					17																	30648077		2203	4300	6503	SO:0001819	synonymous_variant	162494				proteolysis	integral to membrane	calcium ion binding|serine-type endopeptidase activity	g.chr17:30648077C>A	AJ313480	CCDS32613.1	17q11.2	2013-01-10				ENSG00000141314		"""EF-hand domain containing"""	16502	protein-coding gene	gene with protein product			"""rhomboid, veinlet-like 4 (Drosophila)"""	RHBDL4		11900977	Standard	XM_006721733		Approved	VRHO	uc002hhe.1	P58872		ENST00000269051.4:c.1044C>A	17.37:g.30648077C>A						RHBDL3_uc010csw.1_Silent_p.A340A|RHBDL3_uc010csx.1_Missense_Mutation_p.R315S|RHBDL3_uc010csy.1_Silent_p.A250A|RHBDL3_uc002hhf.1_Silent_p.A250A	p.A348A	NM_138328	NP_612201	P58872	RHBL3_HUMAN			9	1058	+		Breast(31;0.116)|Ovarian(249;0.182)	348			Helical; (Potential).		A6NMH1|Q495Y4|Q495Y5|Q495Y6	Silent	SNP	ENST00000269051.4	37	c.1044C>A	CCDS32613.1	.	.	.	.	.	.	.	.	.	.	C	11.64	1.699616	0.30142	.	.	ENSG00000141314	ENST00000431505	T	0.70516	-0.49	5.81	-11.6	0.00059	.	.	.	.	.	T	0.45054	0.1323	.	.	.	0.80722	D	1	B	0.11235	0.004	B	0.06405	0.002	T	0.05582	-1.0876	8	0.30854	T	0.27	.	4.2998	0.10918	0.1263:0.2621:0.1261:0.4855	.	315	E9PD28	.	S	315	ENSP00000394849:R315S	ENSP00000394849:R315S	R	+	1	0	RHBDL3	27672190	0.003000	0.15002	0.270000	0.24601	0.977000	0.68977	-1.611000	0.02062	-2.541000	0.00485	-1.325000	0.01285	CGT		0.637	RHBDL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000447120.1	NM_138328		47	50	1	0	1.4374e-25	0.00361	2.15503e-25	47	50				
CCL11	6356	broad.mit.edu	37	17	32614165	32614165	+	Missense_Mutation	SNP	C	C	G			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr17:32614165C>G	ENST00000305869.3	+	2	268	c.127C>G	c.(127-129)Ctt>Gtt	p.L43V		NM_002986.2	NP_002977.1	P51671	CCL11_HUMAN	chemokine (C-C motif) ligand 11	43					actin filament organization (GO:0007015)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cell adhesion (GO:0007155)|cellular calcium ion homeostasis (GO:0006874)|chemotaxis (GO:0006935)|chronic inflammatory response (GO:0002544)|cytoskeleton organization (GO:0007010)|eosinophil chemotaxis (GO:0048245)|ERK1 and ERK2 cascade (GO:0070371)|immune response (GO:0006955)|inflammatory response (GO:0006954)|mammary duct terminal end bud growth (GO:0060763)|mast cell chemotaxis (GO:0002551)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of Rac GTPase activity (GO:0032855)|protein phosphorylation (GO:0006468)|regulation of cell shape (GO:0008360)|response to interleukin-4 (GO:0070670)|response to radiation (GO:0009314)|response to virus (GO:0009615)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	chemokine activity (GO:0008009)			breast(1)|lung(1)|prostate(1)	3	Breast(3;0.00224)	Breast(31;0.151)|Ovarian(249;0.17)		BRCA - Breast invasive adenocarcinoma(366;0.155)		GAAGATACCCCTTCAGCGACT	0.428																																							uc002hia.1		NA																	0					0						c.(127-129)CTT>GTT		small inducible cytokine A11 precursor							90.0	94.0	93.0					17																	32614165		2203	4300	6503	SO:0001583	missense	6356				cell adhesion|cellular calcium ion homeostasis|immune response|positive regulation of actin filament polymerization|positive regulation of cell migration|positive regulation of endothelial cell proliferation|positive regulation of Rac GTPase activity|protein phosphorylation|response to radiation|response to virus|signal transduction	extracellular space	chemokine activity	g.chr17:32614165C>G	AB063614	CCDS11279.1	17q21.1-q21.2	2013-02-25	2002-08-22	2002-08-23	ENSG00000172156	ENSG00000172156		"""Chemokine ligands"", ""Endogenous ligands"""	10610	protein-coding gene	gene with protein product	"""eotaxin-1"""	601156	"""small inducible cytokine subfamily A (Cys-Cys), member 11 (eotaxin)"""	SCYA11		9169149	Standard	NM_002986		Approved	eotaxin, MGC22554	uc002hia.1	P51671	OTTHUMG00000132884	ENST00000305869.3:c.127C>G	17.37:g.32614165C>G	ENSP00000302234:p.Leu43Val						p.L43V	NM_002986	NP_002977	P51671	CCL11_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.155)	2	268	+	Breast(3;0.00224)	Breast(31;0.151)|Ovarian(249;0.17)	43					P50877|Q92490|Q92491	Missense_Mutation	SNP	ENST00000305869.3	37	c.127C>G	CCDS11279.1	.	.	.	.	.	.	.	.	.	.	C	1.586	-0.530357	0.04112	.	.	ENSG00000172156	ENST00000305869	T	0.04862	3.54	4.66	-9.32	0.00643	CC chemokine, conserved site (1);Chemokine interleukin-8-like domain (3);	2.404880	0.01680	N	0.026063	T	0.02494	0.0076	.	.	.	0.09310	N	1	B	0.14012	0.009	B	0.24006	0.05	T	0.39800	-0.9596	9	0.11794	T	0.64	.	3.09	0.06290	0.1724:0.2264:0.0768:0.5244	.	43	P51671	CCL11_HUMAN	V	43	ENSP00000302234:L43V	ENSP00000302234:L43V	L	+	1	0	CCL11	29638278	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.093000	0.03362	-1.608000	0.01587	-1.608000	0.00805	CTT		0.428	CCL11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256377.2	NM_002986		18	76	0	0	0	0.00278	0	18	76				
CCT6B	10693	broad.mit.edu	37	17	33259506	33259506	+	Silent	SNP	A	A	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr17:33259506A>T	ENST00000314144.5	-	11	1342	c.1227T>A	c.(1225-1227)ccT>ccA	p.P409P	CCT6B_ENST00000436961.3_Silent_p.P364P|CCT6B_ENST00000421975.3_Silent_p.P372P	NM_006584.3	NP_006575.2	Q92526	TCPW_HUMAN	chaperonin containing TCP1, subunit 6B (zeta 2)	409					chaperone-mediated protein complex assembly (GO:0051131)|protein folding (GO:0006457)|protein transport (GO:0015031)|spermatogenesis (GO:0007283)	chaperonin-containing T-complex (GO:0005832)	ATP binding (GO:0005524)|protein transporter activity (GO:0008565)|unfolded protein binding (GO:0051082)			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)	20		Ovarian(249;0.17)				CACCAGCTCCAGGAACCATAC	0.398																																							uc002hig.2		NA																	0				pancreas(1)	1						c.(1225-1227)CCT>CCA		chaperonin containing TCP1, subunit 6B							153.0	161.0	158.0					17																	33259506		2203	4300	6503	SO:0001819	synonymous_variant	10693				chaperone-mediated protein complex assembly|protein folding|spermatogenesis	cytoplasm	ATP binding|protein transporter activity|unfolded protein binding	g.chr17:33259506A>T	D78333	CCDS32617.1, CCDS54105.1, CCDS54106.1	17q	2011-09-02			ENSG00000132141	ENSG00000132141		"""Heat Shock Proteins / Chaperonins"""	1621	protein-coding gene	gene with protein product		610730				8812458, 9013858	Standard	NM_006584		Approved	Cctz2, TSA303	uc002hig.3	Q92526		ENST00000314144.5:c.1227T>A	17.37:g.33259506A>T						CCT6B_uc010ctg.2_Silent_p.P372P|CCT6B_uc010wcc.1_Silent_p.P364P	p.P409P	NM_006584	NP_006575	Q92526	TCPW_HUMAN			11	1321	-		Ovarian(249;0.17)	409					B4DX20|B4DYB0|Q8TC34	Silent	SNP	ENST00000314144.5	37	c.1227T>A	CCDS32617.1																																																																																				0.398	CCT6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448014.1	NM_006584		31	142	0	0	0	0.004878	0	31	142				
UNC45B	146862	broad.mit.edu	37	17	33504092	33504092	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr17:33504092C>A	ENST00000268876.5	+	16	2185	c.2088C>A	c.(2086-2088)caC>caA	p.H696Q	UNC45B_ENST00000394570.2_Missense_Mutation_p.H694Q|UNC45B_ENST00000591048.1_Missense_Mutation_p.H615Q|UNC45B_ENST00000433649.1_Missense_Mutation_p.H694Q|UNC45B_ENST00000378449.1_Missense_Mutation_p.H615Q	NM_173167.2	NP_775259.1	Q8IWX7	UN45B_HUMAN	unc-45 homolog B (C. elegans)	696					cell differentiation (GO:0030154)|chaperone-mediated protein folding (GO:0061077)|muscle organ development (GO:0007517)	cytoplasm (GO:0005737)|cytosol (GO:0005829)		p.H696H(1)		breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3)	59		Ovarian(249;0.17)				AGGCAGCCCACGCTCTAGCAA	0.567																																							uc002hja.2		NA																	1	Substitution - coding silent(1)		endometrium(1)	ovary(3)|central_nervous_system(2)|breast(1)	6						c.(2086-2088)CAC>CAA		cardiomyopathy associated 4 isoform 1							145.0	113.0	124.0					17																	33504092		2203	4300	6503	SO:0001583	missense	146862				cell differentiation|muscle organ development	cytosol	binding	g.chr17:33504092C>A	AW755253	CCDS11292.1, CCDS45648.1	17q12	2008-02-05	2005-11-17	2005-11-17	ENSG00000141161	ENSG00000141161			14304	protein-coding gene	gene with protein product		611220	"""cardiomyopathy associated 4"""	CMYA4		12356907	Standard	NM_001267052		Approved	UNC45	uc002hja.3	Q8IWX7	OTTHUMG00000132931	ENST00000268876.5:c.2088C>A	17.37:g.33504092C>A	ENSP00000268876:p.His696Gln					UNC45B_uc002hjb.2_Missense_Mutation_p.H694Q|UNC45B_uc002hjc.2_Missense_Mutation_p.H694Q|UNC45B_uc010cto.2_Missense_Mutation_p.H615Q	p.H696Q	NM_173167	NP_775259	Q8IWX7	UN45B_HUMAN			16	2185	+		Ovarian(249;0.17)	696					Q495Q8|Q495Q9	Missense_Mutation	SNP	ENST00000268876.5	37	c.2088C>A	CCDS11292.1	.	.	.	.	.	.	.	.	.	.	C	1.129	-0.653014	0.03480	.	.	ENSG00000141161	ENST00000394570;ENST00000268876;ENST00000433649;ENST00000378449	T;T;T	0.47528	3.66;3.67;0.84	5.08	-10.2	0.00374	Armadillo-like helical (1);Armadillo-type fold (1);	0.092942	0.64402	D	0.000001	T	0.33000	0.0848	N	0.02266	-0.62	0.43919	D	0.996562	D;B;B	0.76494	0.999;0.009;0.005	D;B;B	0.81914	0.995;0.016;0.003	T	0.71846	-0.4469	10	0.02654	T	1	-19.8141	22.7755	0.99976	0.0:0.1471:0.0:0.8529	.	615;694;696	Q8IWX7-2;Q8IWX7-3;Q8IWX7	.;.;UN45B_HUMAN	Q	696;696;694;615	ENSP00000268876:H696Q;ENSP00000412840:H694Q;ENSP00000367710:H615Q	ENSP00000268876:H696Q	H	+	3	2	UNC45B	30528205	0.000000	0.05858	0.149000	0.22428	0.846000	0.48090	-3.454000	0.00465	-2.655000	0.00422	-0.251000	0.11542	CAC		0.567	UNC45B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256458.2	NM_173167		58	61	1	0	7.14007e-55	0.00361	1.16199e-54	58	61				
LYZL6	57151	broad.mit.edu	37	17	34264792	34264792	+	Missense_Mutation	SNP	A	A	G			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr17:34264792A>G	ENST00000585556.1	-	3	602	c.268T>C	c.(268-270)Tcg>Ccg	p.S90P	LYZL6_ENST00000492340.2_5'UTR|LYZL6_ENST00000293274.4_Missense_Mutation_p.S90P|LYZL6_ENST00000394523.3_Missense_Mutation_p.S90P			O75951	LYZL6_HUMAN	lysozyme-like 6	90					cell wall macromolecule catabolic process (GO:0016998)	extracellular region (GO:0005576)	lysozyme activity (GO:0003796)			breast(1)|endometrium(1)|large_intestine(1)|lung(8)|stomach(1)	12				UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		AGGTTTTCCGAGTAACTCTTA	0.483																																							uc002hkj.1		NA																	0					0						c.(268-270)TCG>CCG		lysozyme-like 6 precursor							112.0	104.0	107.0					17																	34264792		2203	4300	6503	SO:0001583	missense	57151				cell wall macromolecule catabolic process	extracellular region	lysozyme activity	g.chr17:34264792A>G	AF088219, AY742214	CCDS11302.1	17q11.2	2014-04-10			ENSG00000161572	ENSG00000275722			29614	protein-coding gene	gene with protein product		612751				10213461	Standard	NM_020426		Approved	LYC1, PRO1485, TKAL754	uc002hkj.2	O75951	OTTHUMG00000188400	ENST00000585556.1:c.268T>C	17.37:g.34264792A>G	ENSP00000468094:p.Ser90Pro					LYZL6_uc002hkk.1_Missense_Mutation_p.S90P	p.S90P	NM_020426	NP_065159	O75951	LYZL6_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	2	418	-			90					Q6UW30	Missense_Mutation	SNP	ENST00000585556.1	37	c.268T>C	CCDS11302.1	.	.	.	.	.	.	.	.	.	.	A	11.41	1.631661	0.29068	.	.	ENSG00000161572	ENST00000293274;ENST00000394523	T;T	0.73681	-0.77;-0.77	4.96	1.25	0.21368	Lysozyme-like domain (1);	0.512237	0.17181	N	0.183884	T	0.77512	0.4141	L	0.46741	1.465	0.35742	D	0.818753	D	0.53619	0.961	P	0.62740	0.906	T	0.77763	-0.2466	10	0.59425	D	0.04	-6.3985	8.4506	0.32869	0.4951:0.0:0.0:0.5049	.	90	O75951	LYZL6_HUMAN	P	90	ENSP00000293274:S90P;ENSP00000378031:S90P	ENSP00000293274:S90P	S	-	1	0	LYZL6	31288905	0.956000	0.32656	0.345000	0.25642	0.015000	0.08874	0.438000	0.21559	-0.027000	0.13873	-0.333000	0.08304	TCG		0.483	LYZL6-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256578.2	NM_020426		5	91	0	0	0	0.001168	0	5	91				
GGNBP2	79893	broad.mit.edu	37	17	34935751	34935751	+	Missense_Mutation	SNP	G	G	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr17:34935751G>A	ENST00000304718.4	+	8	1238	c.922G>A	c.(922-924)Gaa>Aaa	p.E308K		NM_024835.3	NP_079111.1	Q9H3C7	GGNB2_HUMAN	gametogenetin binding protein 2	308					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasmic vesicle (GO:0031410)|nucleus (GO:0005634)				breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)	38		Breast(25;0.00957)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		TCATCTTTATGAAAGACTGCA	0.423																																							uc002hnb.2		NA																	0				ovary(2)	2						c.(922-924)GAA>AAA		zinc finger protein 403							180.0	183.0	182.0					17																	34935751		2203	4300	6503	SO:0001583	missense	79893				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasmic membrane-bounded vesicle		g.chr17:34935751G>A	AF126964	CCDS11314.1	17q21.1	2014-05-06	2007-08-20	2007-08-20	ENSG00000005955	ENSG00000278311			19357	protein-coding gene	gene with protein product		612275	"""zinc finger protein 403"""	ZNF403		11728448	Standard	NM_024835		Approved	ZFP403, LZK1, FLJ22561, FLJ21230, DIF-3, DIF3	uc002hnb.3	Q9H3C7	OTTHUMG00000188440	ENST00000304718.4:c.922G>A	17.37:g.34935751G>A	ENSP00000307617:p.Glu308Lys					GGNBP2_uc002hna.2_Missense_Mutation_p.E308K|GGNBP2_uc002hnc.1_Missense_Mutation_p.E137K	p.E308K	NM_024835	NP_079111	Q9H3C7	GGNB2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)	8	1171	+		Breast(25;0.00957)|Ovarian(249;0.17)	308					B2RPK7|Q96T90|Q9GZR8|Q9H767	Missense_Mutation	SNP	ENST00000304718.4	37	c.922G>A	CCDS11314.1	.	.	.	.	.	.	.	.	.	.	G	32	5.138117	0.94560	.	.	ENSG00000005955	ENST00000304718	.	.	.	5.55	4.57	0.56435	.	0.000000	0.85682	D	0.000000	T	0.74989	0.3789	M	0.65498	2.005	0.80722	D	1	D;D;D	0.69078	0.997;0.997;0.995	D;D;D	0.64144	0.921;0.921;0.922	T	0.78001	-0.2375	9	0.87932	D	0	-16.137	14.8003	0.69909	0.0706:0.0:0.9294:0.0	.	308;308;308	A8K3S2;Q9H3C7;Q9H3C7-3	.;GGNB2_HUMAN;.	K	308	.	ENSP00000307617:E308K	E	+	1	0	GGNBP2	32009864	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.266000	0.78452	2.615000	0.88500	0.460000	0.39030	GAA		0.423	GGNBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256684.2	NM_024835		28	145	0	0	0	0.009535	0	28	145				
TBC1D3F	84218	broad.mit.edu	37	17	36288223	36288223	+	Silent	SNP	C	C	G			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr17:36288223C>G	ENST00000327454.6	+	6	455	c.309C>G	c.(307-309)ccC>ccG	p.P103P	TBC1D3F_ENST00000378174.5_Silent_p.P103P|TBC1D3F_ENST00000539424.1_Silent_p.P23P|TBC1D3F_ENST00000505415.1_Silent_p.P103P	NM_032258.2	NP_115634.2	A6NER0	TBC3F_HUMAN	TBC1 domain family, member 3F	103	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.					plasma membrane (GO:0005886)	Rab GTPase activator activity (GO:0005097)			liver(1)|pancreas(1)	2						AGGGAATGCCCATGAACATCC	0.567																																							uc002hoo.2		NA																	0					0						c.(307-309)CCC>CCG		TBC1 domain family, member 3F							219.0	145.0	168.0					17																	36288223		876	1983	2859	SO:0001819	synonymous_variant	729873					intracellular	Rab GTPase activator activity	g.chr17:36288223C>G			17q12	2014-09-16				ENSG00000275954			18257	protein-coding gene	gene with protein product		610809				16863688	Standard	NM_032258		Approved			A6NER0	OTTHUMG00000188428	ENST00000327454.6:c.309C>G	17.37:g.36288223C>G						TBC1D3_uc002hop.2_RNA|TBC1D3_uc010wdj.1_Silent_p.P23P|TBC1D3_uc010cvf.1_Silent_p.P103P|TBC1D3_uc002hoq.2_Silent_p.P103P|TBC1D3_uc010wdk.1_Silent_p.P164P|uc002hpl.2_5'Flank|uc002hor.2_5'Flank	p.P103P	NM_032258	NP_115634	Q8IZP1	TBC3A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	6	466	+	Breast(7;2.97e-12)	Breast(25;0.102)|Ovarian(249;0.17)	103			Rab-GAP TBC.			Silent	SNP	ENST00000327454.6	37	c.309C>G	CCDS45657.1																																																																																				0.567	TBC1D3F-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256100.3	NM_032258.2		59	547	0	0	0	0.00361	0	59	547				
CACNB1	782	broad.mit.edu	37	17	37340312	37340312	+	Silent	SNP	A	A	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr17:37340312A>T	ENST00000394303.3	-	10	1077	c.870T>A	c.(868-870)atT>atA	p.I290I	CACNB1_ENST00000344140.5_Silent_p.I335I|CACNB1_ENST00000394310.3_Silent_p.I290I|CACNB1_ENST00000582877.1_5'Flank	NM_000723.4	NP_000714.3	Q02641	CACB1_HUMAN	calcium channel, voltage-dependent, beta 1 subunit	290					axon guidance (GO:0007411)|protein targeting to membrane (GO:0006612)|transport (GO:0006810)	sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	16					Dronedarone(DB04855)|Ibutilide(DB00308)|Magnesium Sulfate(DB00653)|Nimodipine(DB00393)|Spironolactone(DB00421)|Verapamil(DB00661)	TGGAGCGCTCAATGATGATGT	0.582																																					Esophageal Squamous(5;100 366 38393 41452 45827)	Esophageal Squamous(5;100 366 38393 41452 45827)	uc002hrm.1		NA																	0				large_intestine(1)|ovary(1)	2						c.(868-870)ATT>ATA		calcium channel, voltage-dependent, beta 1	Ibutilide(DB00308)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Verapamil(DB00661)						135.0	115.0	121.0					17																	37340312		2203	4300	6503	SO:0001819	synonymous_variant	782				axon guidance	voltage-gated calcium channel complex		g.chr17:37340312A>T		CCDS11334.1, CCDS42311.1, CCDS45665.1	17q21-q22	2013-03-20			ENSG00000067191	ENSG00000067191		"""Calcium channel subunits"""	1401	protein-coding gene	gene with protein product		114207		CACNLB1		8381767, 8395940	Standard	NM_000723		Approved		uc002hrm.2	Q02641	OTTHUMG00000133217	ENST00000394303.3:c.870T>A	17.37:g.37340312A>T						CACNB1_uc002hrl.1_Silent_p.I62I|CACNB1_uc002hrn.2_Silent_p.I290I|CACNB1_uc002hro.2_Silent_p.I335I	p.I290I	NM_000723	NP_000714	Q02641	CACB1_HUMAN			10	1023	-			290					A8K114|O15331|Q02639|Q02640|Q8N3X9|Q9C085|Q9UD79	Silent	SNP	ENST00000394303.3	37	c.870T>A	CCDS42311.1																																																																																				0.582	CACNB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256945.3			19	65	0	0	0	0.00278	0	19	65				
PSMD3	5709	broad.mit.edu	37	17	38140601	38140601	+	Missense_Mutation	SNP	G	G	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr17:38140601G>A	ENST00000264639.4	+	2	449	c.275G>A	c.(274-276)aGa>aAa	p.R92K	PSMD3_ENST00000541736.1_Intron	NM_002809.3	NP_002800.2	O43242	PSMD3_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 3	92					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 protein catabolic process (GO:0042176)|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)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)	enzyme regulator activity (GO:0030234)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Colorectal(19;0.000442)					AAGGAGCCGAGATTCGTGCTG	0.502																																					Ovarian(186;531 2051 6385 19668 48409)	Ovarian(186;531 2051 6385 19668 48409)	uc002htn.1		NA																	0				ovary(1)|pancreas(1)	2						c.(274-276)AGA>AAA		proteasome 26S non-ATPase subunit 3							80.0	74.0	76.0					17																	38140601		2203	4300	6503	SO:0001583	missense	5709				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome complex	enzyme regulator activity|protein binding	g.chr17:38140601G>A	D67025	CCDS11356.1	17q21.2	2010-07-23			ENSG00000108344	ENSG00000108344		"""Proteasome (prosome, macropain) subunits"""	9560	protein-coding gene	gene with protein product			"""tissue specific transplantation antigen 2"""	TSTA2		9017604	Standard	NM_002809		Approved	S3, P58, Rpn3	uc002htn.2	O43242	OTTHUMG00000133251	ENST00000264639.4:c.275G>A	17.37:g.38140601G>A	ENSP00000264639:p.Arg92Lys					PSMD3_uc010wen.1_Intron|PSMD3_uc010weo.1_Splice_Site	p.R92K	NM_002809	NP_002800	O43242	PSMD3_HUMAN			2	439	+	Colorectal(19;0.000442)		92					B3KMW9|B4DT72|Q96EI2|Q9BQA4	Missense_Mutation	SNP	ENST00000264639.4	37	c.275G>A	CCDS11356.1	.	.	.	.	.	.	.	.	.	.	G	35	5.431560	0.96150	.	.	ENSG00000108344	ENST00000264639;ENST00000415039	D	0.87729	-2.29	5.5	5.5	0.81552	.	0.054829	0.85682	D	0.000000	D	0.93141	0.7816	M	0.76938	2.355	0.80722	D	1	D	0.69078	0.997	P	0.62649	0.905	D	0.93288	0.6666	10	0.72032	D	0.01	-11.4255	19.6014	0.95563	0.0:0.0:1.0:0.0	.	92	O43242	PSMD3_HUMAN	K	92;79	ENSP00000264639:R92K	ENSP00000264639:R92K	R	+	2	0	PSMD3	35394127	1.000000	0.71417	0.026000	0.17262	0.706000	0.40770	9.394000	0.97261	2.854000	0.98071	0.655000	0.94253	AGA		0.502	PSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257018.1	NM_002809		9	60	0	0	0	0.008291	0	9	60				
SMARCE1	6605	broad.mit.edu	37	17	38785088	38785088	+	Silent	SNP	T	T	G			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr17:38785088T>G	ENST00000348513.6	-	11	1965	c.1185A>C	c.(1183-1185)acA>acC	p.T395T	SMARCE1_ENST00000578044.1_Silent_p.T325T|SMARCE1_ENST00000400122.3_3'UTR|SMARCE1_ENST00000544009.1_Silent_p.T325T|SMARCE1_ENST00000580419.1_Silent_p.T360T|KRT222_ENST00000476049.1_3'UTR|SMARCE1_ENST00000431889.2_Silent_p.T377T|SMARCE1_ENST00000377808.4_3'UTR	NM_003079.4	NP_003070.3	Q969G3	SMCE1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1	395	Glu-rich.				ATP-dependent chromatin remodeling (GO:0043044)|chromatin remodeling (GO:0006338)|metabolic process (GO:0008152)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|nucleosome disassembly (GO:0006337)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|N-acetyltransferase activity (GO:0008080)|protein N-terminus binding (GO:0047485)|RNA binding (GO:0003723)|transcription coactivator activity (GO:0003713)			large_intestine(1)	1		Breast(137;0.000812)				GCTCCTCCACTGTTGCACTGT	0.453																																							uc002hux.2		NA																	0					0						c.(1183-1185)ACA>ACC		SWI/SNF-related matrix-associated							131.0	114.0	120.0					17																	38785088		2203	4300	6503	SO:0001819	synonymous_variant	6605				chromatin modification|negative regulation of transcription, DNA-dependent|nervous system development|nucleosome disassembly|regulation of transcription from RNA polymerase II promoter	nBAF complex|npBAF complex|nuclear chromosome|SWI/SNF complex|transcriptional repressor complex	chromatin binding|DNA binding|N-acetyltransferase activity|protein binding|protein N-terminus binding|transcription coactivator activity	g.chr17:38785088T>G	AF035262	CCDS11370.1	17q21.2	2006-09-20			ENSG00000073584	ENSG00000073584			11109	protein-coding gene	gene with protein product		603111				9435219	Standard	NM_003079		Approved	BAF57	uc002hux.2	Q969G3	OTTHUMG00000133367	ENST00000348513.6:c.1185A>C	17.37:g.38785088T>G						SMARCE1_uc010wff.1_3'UTR|SMARCE1_uc010wfg.1_3'UTR|SMARCE1_uc002huy.2_Silent_p.T360T|SMARCE1_uc010wfh.1_Silent_p.T325T|SMARCE1_uc010wfi.1_Silent_p.T377T	p.T395T	NM_003079	NP_003070	Q969G3	SMCE1_HUMAN			11	1309	-		Breast(137;0.000812)	395			Glu-rich.		B3KMC1|B4DFR4|C0IMW4|C0IMW5|C0IMW7|H7C3F6|O43539	Silent	SNP	ENST00000348513.6	37	c.1185A>C	CCDS11370.1																																																																																				0.453	SMARCE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257203.1	NM_003079		53	81	0	0	0	0.00361	0	53	81				
KRT25	147183	broad.mit.edu	37	17	38907322	38907322	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr17:38907322G>T	ENST00000312150.4	-	5	901	c.841C>A	c.(841-843)Ctg>Atg	p.L281M		NM_181534.3	NP_853512.1			keratin 25											endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(4)	16		Breast(137;0.00526)				TGCTGCTGCAGGGAGGCGCTC	0.483																																							uc002hve.2		NA																	0				ovary(2)	2						c.(841-843)CTG>ATG		keratin 25							84.0	79.0	81.0					17																	38907322		2203	4300	6503	SO:0001583	missense	147183					cytoplasm|intermediate filament	structural molecule activity	g.chr17:38907322G>T	AK129503	CCDS11373.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000204897	ENSG00000204897		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	30839	protein-coding gene	gene with protein product			"""keratin 25A"""	KRT25A		16831889	Standard	NM_181534		Approved		uc002hve.3	Q7Z3Z0	OTTHUMG00000133373	ENST00000312150.4:c.841C>A	17.37:g.38907322G>T	ENSP00000310573:p.Leu281Met						p.L281M	NM_181534	NP_853512	Q7Z3Z0	K1C25_HUMAN			5	902	-		Breast(137;0.00526)	281			Rod.|Coil 2.			Missense_Mutation	SNP	ENST00000312150.4	37	c.841C>A	CCDS11373.1	.	.	.	.	.	.	.	.	.	.	G	18.33	3.600994	0.66332	.	.	ENSG00000204897	ENST00000312150	D	0.91631	-2.88	5.84	5.84	0.93424	Filament (1);	0.000000	0.48767	D	0.000176	D	0.96269	0.8783	M	0.84773	2.715	0.42017	D	0.990961	D	0.89917	1.0	D	0.85130	0.997	D	0.96222	0.9161	9	.	.	.	.	15.6136	0.76748	0.0:0.1368:0.8632:0.0	.	281	Q7Z3Z0	K1C25_HUMAN	M	281	ENSP00000310573:L281M	.	L	-	1	2	KRT25	36160848	1.000000	0.71417	0.988000	0.46212	0.764000	0.43329	1.848000	0.39309	2.758000	0.94735	0.655000	0.94253	CTG		0.483	KRT25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257218.1	NM_181534		11	62	1	0	1.3612e-06	0.003163	1.55017e-06	11	62				
KRT36	8689	broad.mit.edu	37	17	39642635	39642635	+	Missense_Mutation	SNP	G	G	T	rs148487920		TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr17:39642635G>T	ENST00000328119.6	-	7	1396	c.1397C>A	c.(1396-1398)cCg>cAg	p.P466Q	KRT36_ENST00000393986.2_Missense_Mutation_p.P416Q	NM_003771.4	NP_003762.1	O76013	KRT36_HUMAN	keratin 36	466	Tail.				regulation of keratinocyte differentiation (GO:0045616)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural constituent of epidermis (GO:0030280)			breast(2)|cervix(1)|kidney(2)|large_intestine(3)|lung(8)|skin(1)	17		Breast(137;0.000286)				CTGTCACAGCGGGCGGGACTG	0.637																																							uc002hwt.2		NA																	0					0						c.(1396-1398)CCG>CAG		keratin 36							49.0	41.0	44.0					17																	39642635		2203	4300	6503	SO:0001583	missense	8689					intermediate filament	protein binding|structural constituent of epidermis	g.chr17:39642635G>T	Y16792	CCDS11395.1	17q21.2	2013-06-20	2006-07-17	2006-07-17	ENSG00000126337	ENSG00000126337		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6454	protein-coding gene	gene with protein product		604540	"""keratin, hair, acidic, 6"""	KRTHA6		9756910, 16831889	Standard	XM_005257762		Approved		uc002hwt.3	O76013	OTTHUMG00000133431	ENST00000328119.6:c.1397C>A	17.37:g.39642635G>T	ENSP00000329165:p.Pro466Gln						p.P466Q	NM_003771	NP_003762	O76013	KRT36_HUMAN			7	1397	-		Breast(137;0.000286)	466			Tail.		Q86XG4	Missense_Mutation	SNP	ENST00000328119.6	37	c.1397C>A	CCDS11395.1	.	.	.	.	.	.	.	.	.	.	G	13.35	2.210441	0.39003	.	.	ENSG00000126337	ENST00000393986;ENST00000328119	D;T	0.81821	-1.54;-1.42	5.54	2.47	0.30058	.	0.269718	0.26489	N	0.024082	T	0.56514	0.1990	N	0.08118	0	0.09310	N	1	B	0.16802	0.019	B	0.15484	0.013	T	0.38243	-0.9670	10	0.16896	T	0.51	.	5.9529	0.19257	0.16:0.0:0.6875:0.1525	.	466	O76013	KRT36_HUMAN	Q	416;466	ENSP00000377555:P416Q;ENSP00000329165:P466Q	ENSP00000329165:P466Q	P	-	2	0	KRT36	36896161	0.938000	0.31826	0.002000	0.10522	0.243000	0.25628	1.551000	0.36233	0.301000	0.22738	-0.258000	0.10820	CCG		0.637	KRT36-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259508.1	NM_003771		7	48	1	0	8.12818e-05	0.001984	8.86631e-05	7	48				
KRT36	8689	broad.mit.edu	37	17	39645719	39645719	+	Missense_Mutation	SNP	A	A	G	rs570636230		TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr17:39645719A>G	ENST00000328119.6	-	1	397	c.398T>C	c.(397-399)aTc>aCc	p.I133T	KRT36_ENST00000393986.2_Missense_Mutation_p.I83T	NM_003771.4	NP_003762.1	O76013	KRT36_HUMAN	keratin 36	133	Linker 1.|Rod.				regulation of keratinocyte differentiation (GO:0045616)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural constituent of epidermis (GO:0030280)			breast(2)|cervix(1)|kidney(2)|large_intestine(3)|lung(8)|skin(1)	17		Breast(137;0.000286)				GATGTATGGGATCTGAAACTC	0.582																																							uc002hwt.2		NA																	0					0						c.(397-399)ATC>ACC		keratin 36							166.0	150.0	155.0					17																	39645719		2203	4300	6503	SO:0001583	missense	8689					intermediate filament	protein binding|structural constituent of epidermis	g.chr17:39645719A>G	Y16792	CCDS11395.1	17q21.2	2013-06-20	2006-07-17	2006-07-17	ENSG00000126337	ENSG00000126337		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6454	protein-coding gene	gene with protein product		604540	"""keratin, hair, acidic, 6"""	KRTHA6		9756910, 16831889	Standard	XM_005257762		Approved		uc002hwt.3	O76013	OTTHUMG00000133431	ENST00000328119.6:c.398T>C	17.37:g.39645719A>G	ENSP00000329165:p.Ile133Thr						p.I133T	NM_003771	NP_003762	O76013	KRT36_HUMAN			1	398	-		Breast(137;0.000286)	133			Rod.|Linker 1.		Q86XG4	Missense_Mutation	SNP	ENST00000328119.6	37	c.398T>C	CCDS11395.1	.	.	.	.	.	.	.	.	.	.	A	4.572	0.106333	0.08780	.	.	ENSG00000126337	ENST00000393986;ENST00000328119	D;D	0.87966	-2.32;-2.32	5.57	1.93	0.25924	Filament (1);	0.434931	0.19445	N	0.114081	T	0.63367	0.2505	N	0.03253	-0.375	0.30955	N	0.724269	B	0.02656	0.0	B	0.15870	0.014	T	0.50474	-0.8824	10	0.13853	T	0.58	.	0.6935	0.00895	0.4269:0.1508:0.254:0.1683	.	133	O76013	KRT36_HUMAN	T	83;133	ENSP00000377555:I83T;ENSP00000329165:I133T	ENSP00000329165:I133T	I	-	2	0	KRT36	36899245	0.000000	0.05858	0.534000	0.28014	0.686000	0.39977	-0.134000	0.10436	0.024000	0.15214	0.460000	0.39030	ATC		0.582	KRT36-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259508.1	NM_003771		101	102	0	0	0	0.00361	0	101	102				
FMNL1	752	broad.mit.edu	37	17	43322352	43322352	+	Missense_Mutation	SNP	G	G	C			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr17:43322352G>C	ENST00000331495.3	+	21	2941	c.2605G>C	c.(2605-2607)Gag>Cag	p.E869Q	MAP3K14-AS1_ENST00000590100.1_RNA|FMNL1_ENST00000587489.1_Missense_Mutation_p.E447Q|CTD-2020K17.4_ENST00000591361.1_RNA|CTD-2020K17.4_ENST00000420431.2_RNA|FMNL1_ENST00000328118.3_Missense_Mutation_p.E869Q|MAP3K14-AS1_ENST00000591263.1_RNA|MAP3K14-AS1_ENST00000592422.1_RNA|MAP3K14-AS1_ENST00000588504.1_RNA|CTD-2020K17.4_ENST00000589518.1_RNA|MAP3K14-AS1_ENST00000588698.1_RNA|MAP3K14-AS1_ENST00000585346.1_RNA	NM_005892.3	NP_005883	O95466	FMNL_HUMAN	formin-like 1	869	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin filament severing (GO:0051014)|cortical actin cytoskeleton organization (GO:0030866)|regulation of cell shape (GO:0008360)|substrate-dependent cell migration (GO:0006929)	cell projection (GO:0042995)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|GTPase activating protein binding (GO:0032794)|Rac GTPase binding (GO:0048365)			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(12)|pancreas(1)|skin(1)|urinary_tract(2)	33						GCAGCTGTTGGAGATGAAGTC	0.607																																					GBM(164;1247 1997 8702 11086 51972)	GBM(164;1247 1997 8702 11086 51972)	uc002iin.2		NA																	0				pancreas(1)	1						c.(2605-2607)GAG>CAG		formin-like 1							87.0	83.0	84.0					17																	43322352		2203	4300	6503	SO:0001583	missense	752				actin cytoskeleton organization		actin binding|Rho GTPase binding	g.chr17:43322352G>C	AJ008112	CCDS11497.1	17q21.31	2008-05-14	2003-12-02	2003-12-03		ENSG00000184922			1212	protein-coding gene	gene with protein product		604656	"""formin-like"""	C17orf1B, FMNL		9799091	Standard	NM_005892		Approved	C17orf1	uc002iin.3	O95466		ENST00000331495.3:c.2605G>C	17.37:g.43322352G>C	ENSP00000329219:p.Glu869Gln					FMNL1_uc002iiq.2_Missense_Mutation_p.E447Q|FMNL1_uc010dag.2_RNA|LOC100133991_uc010dah.2_5'Flank	p.E869Q	NM_005892	NP_005883	O95466	FMNL_HUMAN			21	2805	+			869			FH2.		D2DGW2|Q6DKG5|Q6IBP3|Q86UH1|Q8N671|Q8TDH1|Q96H10	Missense_Mutation	SNP	ENST00000331495.3	37	c.2605G>C	CCDS11497.1	.	.	.	.	.	.	.	.	.	.	G	28.4	4.915964	0.92178	.	.	ENSG00000184922	ENST00000328118;ENST00000331495;ENST00000539884	T;T	0.18174	2.23;2.23	4.52	4.52	0.55395	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.097988	0.64402	D	0.000002	T	0.33614	0.0869	L	0.48362	1.52	0.58432	D	0.999999	D	0.67145	0.996	D	0.67548	0.952	T	0.04255	-1.0965	10	0.87932	D	0	.	15.1166	0.72407	0.0:0.0:1.0:0.0	.	869	O95466	FMNL_HUMAN	Q	869;869;524	ENSP00000327442:E869Q;ENSP00000329219:E869Q	ENSP00000327442:E869Q	E	+	1	0	FMNL1	40678135	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.585000	0.98223	2.511000	0.84671	0.455000	0.32223	GAG		0.607	FMNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450198.1	NM_005892		16	79	0	0	0	0.006122	0	16	79				
TBX21	30009	broad.mit.edu	37	17	45822276	45822276	+	Silent	SNP	T	T	C			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr17:45822276T>C	ENST00000177694.1	+	6	1363	c.1152T>C	c.(1150-1152)gcT>gcC	p.A384A		NM_013351.1	NP_037483.1	Q9UL17	TBX21_HUMAN	T-box 21	384					cellular response to organic substance (GO:0071310)|lymphocyte migration (GO:0072676)|multicellular organismal development (GO:0007275)|positive regulation of isotype switching to IgG isotypes (GO:0048304)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|response to virus (GO:0009615)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351)	neuronal cell body (GO:0043025)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|endometrium(1)|large_intestine(3)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	22						TTCCCCAGGCTTACTGGCTGG	0.617																																							uc002ilv.1		NA																	0					0						c.(1150-1152)GCT>GCC		T-box 21							63.0	65.0	65.0					17																	45822276		2203	4300	6503	SO:0001819	synonymous_variant	30009				lymphocyte migration|multicellular organismal development|positive regulation of transcription, DNA-dependent|response to virus	nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr17:45822276T>C	AF093098	CCDS11514.1	17q21.2	2008-06-23				ENSG00000073861		"""T-boxes"""	11599	protein-coding gene	gene with protein product		604895					Standard	NM_013351		Approved	TBLYM, T-bet	uc002ilv.1	Q9UL17		ENST00000177694.1:c.1152T>C	17.37:g.45822276T>C							p.A384A	NM_013351	NP_037483	Q9UL17	TBX21_HUMAN			6	1363	+			384						Silent	SNP	ENST00000177694.1	37	c.1152T>C	CCDS11514.1																																																																																				0.617	TBX21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441365.1	NM_013351		16	104	0	0	0	0.006122	0	16	104				
HOXB9	3219	broad.mit.edu	37	17	46700309	46700309	+	Silent	SNP	G	G	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr17:46700309G>T	ENST00000311177.5	-	2	913	c.706C>A	c.(706-708)Cgg>Agg	p.R236R	HOXB7_ENST00000567101.2_Intron|HOXB9_ENST00000550387.1_3'UTR	NM_024017.4	NP_076922.1	P17482	HXB9_HUMAN	homeobox B9	236					anterior/posterior pattern specification (GO:0009952)|canonical Wnt signaling pathway (GO:0060070)|cell chemotaxis (GO:0060326)|embryonic skeletal system development (GO:0048706)|mammary gland development (GO:0030879)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)	p.R236W(1)		breast(2)|endometrium(1)|large_intestine(1)|liver(1)|lung(6)|prostate(1)	12						TTCATCCGCCGGTTCTGAAAC	0.463																																							uc002inx.2		NA																	1	Substitution - Missense(1)		endometrium(1)		0						c.(706-708)CGG>AGG		homeobox B9							158.0	161.0	160.0					17																	46700309		2203	4300	6503	SO:0001819	synonymous_variant	3219				canonical Wnt receptor signaling pathway|cell chemotaxis	mitochondrion|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:46700309G>T		CCDS11534.1	17q21.32	2011-06-20	2005-12-22		ENSG00000170689	ENSG00000170689		"""Homeoboxes / ANTP class : HOXL subclass"""	5120	protein-coding gene	gene with protein product		142964	"""homeo box B9"""	HOX2E, HOX2		1973146, 1358459	Standard	NM_024017		Approved		uc002inx.3	P17482	OTTHUMG00000159907	ENST00000311177.5:c.706C>A	17.37:g.46700309G>T							p.R236R	NM_024017	NP_076922	P17482	HXB9_HUMAN			2	910	-			236			Homeobox.		B2RDB7|Q9H1I1	Silent	SNP	ENST00000311177.5	37	c.706C>A	CCDS11534.1																																																																																				0.463	HOXB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358101.2			11	74	1	0	1.61879e-10	0.001368	2.01649e-10	11	74				
CA10	56934	broad.mit.edu	37	17	50235144	50235144	+	Start_Codon_SNP	SNP	C	C	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr17:50235144C>T	ENST00000285273.4	-	2	1114	c.3G>A	c.(1-3)atG>atA	p.M1I	CA10_ENST00000570565.1_Intron|CA10_ENST00000340813.6_5'UTR|CA10_ENST00000451037.2_Start_Codon_SNP_p.M1I|CA10_ENST00000442502.2_Start_Codon_SNP_p.M1I	NM_001082533.1	NP_001076002.1	Q9NS85	CAH10_HUMAN	carbonic anhydrase X	1					brain development (GO:0007420)					cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|skin(3)|stomach(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(22;4.74e-06)		Zonisamide(DB00909)	AGACTATTTCCATCCTCTGAT	0.517																																							uc002itw.3		NA																	0				ovary(1)|skin(1)	2						c.(1-3)ATG>ATA		carbonic anhydrase X							127.0	118.0	121.0					17																	50235144		2203	4300	6503	SO:0001582	initiator_codon_variant	56934				brain development			g.chr17:50235144C>T	AF288385	CCDS32684.1	17q21	2012-08-21			ENSG00000154975	ENSG00000154975		"""Carbonic anhydrases"""	1369	protein-coding gene	gene with protein product		604642				8673298, 9921901	Standard	NM_020178		Approved	CARPX, CA-RPX, HUCEP-15	uc002itx.4	Q9NS85	OTTHUMG00000177544	ENST00000285273.4:c.3G>A	17.37:g.50235144C>T	ENSP00000285273:p.Met1Ile					CA10_uc002itv.3_5'UTR|CA10_uc002itx.3_Missense_Mutation_p.M1I|CA10_uc002ity.3_Missense_Mutation_p.M1I|CA10_uc002itz.2_Missense_Mutation_p.M1I	p.M1I	NM_020178	NP_064563	Q9NS85	CAH10_HUMAN	BRCA - Breast invasive adenocarcinoma(22;4.74e-06)		1	989	-			1					B2R7J0|B4DGL6	Missense_Mutation	SNP	ENST00000285273.4	37	c.3G>A	CCDS32684.1	.	.	.	.	.	.	.	.	.	.	C	18.31	3.594818	0.66219	.	.	ENSG00000154975	ENST00000442502;ENST00000285273;ENST00000451037	T;T;T	0.32023	1.47;1.47;1.47	5.32	5.32	0.75619	.	.	.	.	.	T	0.24160	0.0585	.	.	.	0.80722	D	1	B	0.06786	0.001	B	0.06405	0.002	T	0.04229	-1.0967	7	.	.	.	.	18.1693	0.89740	0.0:1.0:0.0:0.0	.	1	Q9NS85	CAH10_HUMAN	I	1	ENSP00000390666:M1I;ENSP00000285273:M1I;ENSP00000405388:M1I	.	M	-	3	0	CA10	47590143	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.485000	0.66850	2.767000	0.95098	0.655000	0.94253	ATG		0.517	CA10-003	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000437480.1	NM_020178	Missense_Mutation	21	105	0	0	0	0.00278	0	21	105				
KIF2B	84643	broad.mit.edu	37	17	51901177	51901177	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr17:51901177C>A	ENST00000268919.4	+	1	939	c.783C>A	c.(781-783)aaC>aaA	p.N261K		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	261	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of chromosome segregation (GO:0051983)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						ACCTGCAGAACCAGACCTTCT	0.542																																							uc002iua.2		NA																	0				ovary(5)|skin(3)	8						c.(781-783)AAC>AAA		kinesin family member 2B							139.0	114.0	123.0					17																	51901177		2203	4300	6503	SO:0001583	missense	84643				blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity	g.chr17:51901177C>A	AF333335	CCDS32685.1	17q22	2014-08-12			ENSG00000141200	ENSG00000141200		"""Kinesins"""	29443	protein-coding gene	gene with protein product		615142				11416179	Standard	NM_032559		Approved		uc002iua.2	Q8N4N8	OTTHUMG00000177756	ENST00000268919.4:c.783C>A	17.37:g.51901177C>A	ENSP00000268919:p.Asn261Lys					uc010wna.1_Intron	p.N261K	NM_032559	NP_115948	Q8N4N8	KIF2B_HUMAN			1	939	+			261			Kinesin-motor.		Q96MA2|Q9BXG6	Missense_Mutation	SNP	ENST00000268919.4	37	c.783C>A	CCDS32685.1	.	.	.	.	.	.	.	.	.	.	C	17.50	3.405114	0.62288	.	.	ENSG00000141200	ENST00000268919	T	0.73897	-0.79	5.92	4.96	0.65561	Kinesin, motor domain (4);	0.355323	0.23638	N	0.046056	T	0.60327	0.2260	N	0.16266	0.395	0.40267	D	0.978243	B	0.33637	0.42	B	0.37198	0.243	T	0.61397	-0.7071	10	0.39692	T	0.17	.	10.3226	0.43775	0.0:0.8517:0.0:0.1483	.	261	Q8N4N8	KIF2B_HUMAN	K	261	ENSP00000268919:N261K	ENSP00000268919:N261K	N	+	3	2	KIF2B	49256176	1.000000	0.71417	1.000000	0.80357	0.832000	0.47134	2.143000	0.42187	1.507000	0.48752	0.650000	0.86243	AAC		0.542	KIF2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438854.1	NM_032559		22	46	1	0	4.26978e-12	0.00333	5.46727e-12	22	46				
TEX14	56155	broad.mit.edu	37	17	56679300	56679300	+	Silent	SNP	C	C	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr17:56679300C>T	ENST00000240361.8	-	13	1648	c.1563G>A	c.(1561-1563)caG>caA	p.Q521Q	TEX14_ENST00000349033.5_Silent_p.Q515Q|TEX14_ENST00000389934.3_Silent_p.Q515Q			Q8IWB6	TEX14_HUMAN	testis expressed 14	521					attachment of spindle microtubules to kinetochore (GO:0008608)|intercellular bridge organization (GO:0043063)|male meiosis (GO:0007140)|mitotic sister chromatid separation (GO:0051306)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of cytokinesis (GO:0032466)|negative regulation of protein binding (GO:0032091)	cell (GO:0005623)|cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|kinetochore (GO:0000776)|midbody (GO:0030496)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)			breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GTTGAGTTCTCTGGGCTCCAG	0.468																																							uc010dcz.1		NA																	0				stomach(4)|lung(3)|breast(3)|ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1)|skin(1)|pancreas(1)	17						c.(1561-1563)CAG>CAA		testis expressed sequence 14 isoform a							130.0	123.0	126.0					17																	56679300		2203	4300	6503	SO:0001819	synonymous_variant	56155					cytoplasm	ATP binding|protein kinase activity	g.chr17:56679300C>T	AF285601	CCDS32692.1, CCDS32693.1, CCDS56042.1	17q22	2013-09-20	2007-03-13		ENSG00000121101	ENSG00000121101			11737	protein-coding gene	gene with protein product	"""cancer/testis antigen 113"""	605792	"""testis expressed sequence 14"""			11279525, 12711554	Standard	NM_031272		Approved	CT113	uc010dcz.2	Q8IWB6	OTTHUMG00000179245	ENST00000240361.8:c.1563G>A	17.37:g.56679300C>T						TEX14_uc002iwr.1_Silent_p.Q515Q|TEX14_uc002iws.1_Silent_p.Q515Q|TEX14_uc010dda.1_Silent_p.Q295Q	p.Q521Q	NM_198393	NP_938207	Q8IWB6	TEX14_HUMAN			13	1681	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		521					A6NH19|Q7RTP3|Q8ND97|Q9BXT9	Silent	SNP	ENST00000240361.8	37	c.1563G>A	CCDS56042.1																																																																																				0.468	TEX14-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445446.1			7	59	0	0	0	0.006214	0	7	59				
Unknown	0	broad.mit.edu	37	17	58179857	58179857	+	IGR	SNP	A	A	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr17:58179857A>T								CTD-2319I12.1 (10611 upstream) : CTD-2319I12.4 (24038 downstream)																							TTTGTAAACAATCTTCAGATC	0.378																																							uc010wot.1		NA																	0					0						c.(307-309)ATT>AAT		adaptor-related protein complex 1 sigma 2																																				SO:0001628	intergenic_variant	653653							g.chr17:58179857A>T																													17.37:g.58179857A>T							p.I103N	NM_003916	NP_003907					1	424	-									Missense_Mutation	SNP		37	c.308T>A																																																																																				0	0.378									22	110	0	0	0	0.00278	0	22	110				
USP32	84669	broad.mit.edu	37	17	58303470	58303470	+	Silent	SNP	C	C	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr17:58303470C>T	ENST00000300896.4	-	13	1556	c.1362G>A	c.(1360-1362)gtG>gtA	p.V454V	USP32_ENST00000592339.1_Silent_p.V124V	NM_032582.3	NP_115971.2	Q8NFA0	UBP32_HUMAN	ubiquitin specific peptidase 32	454	DUSP. {ECO:0000255|PROSITE- ProRule:PRU00613}.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1)	62	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)			CTGTAGTATTCACGTAACTGA	0.428																																							uc002iyo.1		NA																	0		p.V454L(1)		lung(2)|breast(2)|large_intestine(1)	5						c.(1360-1362)GTG>GTA		ubiquitin specific protease 32							141.0	136.0	138.0					17																	58303470		2203	4300	6503	SO:0001819	synonymous_variant	84669				protein deubiquitination|ubiquitin-dependent protein catabolic process	Golgi apparatus|membrane	calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr17:58303470C>T	AF533230	CCDS32697.1	17q23.3	2013-01-10	2005-08-08		ENSG00000170832	ENSG00000170832		"""Ubiquitin-specific peptidases"", ""EF-hand domain containing"""	19143	protein-coding gene	gene with protein product		607740	"""ubiquitin specific protease 32"""			12838346	Standard	NM_032582		Approved	NY-REN-60, USP10	uc002iyo.1	Q8NFA0		ENST00000300896.4:c.1362G>A	17.37:g.58303470C>T						USP32_uc002iyn.1_Silent_p.V124V	p.V454V	NM_032582	NP_115971	Q8NFA0	UBP32_HUMAN	Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)		13	1648	-	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		454			DUSP.		Q7Z5T3|Q9BX85|Q9Y591	Silent	SNP	ENST00000300896.4	37	c.1362G>A	CCDS32697.1																																																																																				0.428	USP32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449235.2	NM_032582		21	99	0	0	0	0.00333	0	21	99				
ABCA9	10350	broad.mit.edu	37	17	67023491	67023491	+	Missense_Mutation	SNP	C	C	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr17:67023491C>T	ENST00000340001.4	-	14	2102	c.1891G>A	c.(1891-1893)Gcc>Acc	p.A631T	ABCA9_ENST00000370732.2_Missense_Mutation_p.A631T|ABCA9_ENST00000453985.2_Missense_Mutation_p.A631T	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	631	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					CCTAAAATGGCAATCCCAAAA	0.313																																							uc002jhu.2		NA																	0				ovary(4)|upper_aerodigestive_tract(1)|central_nervous_system(1)	6						c.(1891-1893)GCC>ACC		ATP-binding cassette, sub-family A, member 9							44.0	41.0	42.0					17																	67023491		2203	4292	6495	SO:0001583	missense	10350				transport	integral to membrane	ATP binding|ATPase activity	g.chr17:67023491C>T	AF423307	CCDS11681.1	17q24	2012-03-14			ENSG00000154258	ENSG00000154258		"""ATP binding cassette transporters / subfamily A"""	39	protein-coding gene	gene with protein product		612507					Standard	XM_005256934		Approved	EST640918	uc002jhu.3	Q8IUA7	OTTHUMG00000140371	ENST00000340001.4:c.1891G>A	17.37:g.67023491C>T	ENSP00000342216:p.Ala631Thr					ABCA9_uc010dez.2_Missense_Mutation_p.A631T	p.A631T	NM_080283	NP_525022	Q8IUA7	ABCA9_HUMAN			14	2034	-	Breast(10;1.47e-12)		631			ABC transporter 1.		Q6P655|Q8N2S4|Q8WWZ5|Q96MD8	Missense_Mutation	SNP	ENST00000340001.4	37	c.1891G>A	CCDS11681.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.483861	0.84854	.	.	ENSG00000154258	ENST00000340001;ENST00000453985;ENST00000370732;ENST00000453749	T;T	0.52526	0.66;0.66	5.09	4.11	0.48088	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.136569	0.32687	N	0.005780	T	0.63628	0.2527	M	0.65677	2.01	0.58432	D	0.99999	D;D	0.60575	0.981;0.988	D;D	0.63877	0.919;0.913	T	0.66646	-0.5871	10	0.54805	T	0.06	.	13.958	0.64162	0.1531:0.8469:0.0:0.0	.	631;631	Q8IUA7-3;Q8IUA7	.;ABCA9_HUMAN	T	631;614;631;626	ENSP00000342216:A631T;ENSP00000359767:A631T	ENSP00000342216:A631T	A	-	1	0	ABCA9	64535086	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.216000	0.65246	1.272000	0.44329	0.585000	0.79938	GCC		0.313	ABCA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277072.2	NM_172386		7	10	0	0	0	0.008291	0	7	10				
ABCA6	23460	broad.mit.edu	37	17	67114099	67114099	+	Splice_Site	SNP	T	T	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr17:67114099T>A	ENST00000284425.2	-	11	1611		c.e11-2			NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6						transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					TTTCTGATTCTGAAATAACAA	0.343																																							uc002jhw.1		NA																	0				upper_aerodigestive_tract(2)|large_intestine(2)|ovary(2)|skin(1)	7						c.e11-1		ATP-binding cassette, sub-family A, member 6							64.0	65.0	65.0					17																	67114099		2202	4298	6500	SO:0001630	splice_region_variant	23460				transport	integral to membrane	ATP binding|ATPase activity	g.chr17:67114099T>A	U66680	CCDS11683.1	17q21	2012-03-14			ENSG00000154262	ENSG00000154262		"""ATP binding cassette transporters / subfamily A"""	36	protein-coding gene	gene with protein product		612504				8894702	Standard	NM_080284		Approved	EST155051	uc002jhw.1	Q8N139		ENST00000284425.2:c.1437-2A>T	17.37:g.67114099T>A						ABCA6_uc002jhx.1_5'UTR	p.R479_splice	NM_080284	NP_525023	Q8N139	ABCA6_HUMAN			11	1612	-	Breast(10;5.65e-12)							Q6NSH9|Q8N856|Q8WWZ6	Splice_Site	SNP	ENST00000284425.2	37	c.1437_splice	CCDS11683.1	.	.	.	.	.	.	.	.	.	.	T	21.4	4.137743	0.77775	.	.	ENSG00000154262	ENST00000284425	.	.	.	5.33	5.33	0.75918	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.3423	0.60551	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	ABCA6	64625694	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	5.311000	0.65786	2.249000	0.74217	0.519000	0.50382	.		0.343	ABCA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450463.1	NM_080284	Intron	16	26	0	0	0	0.008871	0	16	26				
CD300E	342510	broad.mit.edu	37	17	72613365	72613365	+	Missense_Mutation	SNP	G	G	C			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr17:72613365G>C	ENST00000328630.3	-	2	320	c.280C>G	c.(280-282)Ctc>Gtc	p.L94V	CD300E_ENST00000426295.2_Missense_Mutation_p.L135V|CD300E_ENST00000392619.1_Missense_Mutation_p.L121V			Q496F6	CLM2_HUMAN	CD300e molecule	94	Ig-like V-type.				innate immune response (GO:0045087)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	19						TCTTCATTGAGGTTCTGCATG	0.537																																							uc002jlb.1		NA																	0				skin(2)|large_intestine(1)|ovary(1)	4						c.(280-282)CTC>GTC		CD300e molecule precursor							208.0	160.0	176.0					17																	72613365		2203	4300	6503	SO:0001583	missense	342510					integral to membrane|plasma membrane	receptor activity	g.chr17:72613365G>C	BX648376	CCDS11702.1	17q25.1	2013-01-11	2006-03-28	2006-02-22	ENSG00000186407	ENSG00000186407		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	28874	protein-coding gene	gene with protein product		609801	"""CD300 antigen like family member E"", ""CD300e antigen"""	CD300LE		15549731, 15557162	Standard	NM_181449		Approved	IREM2, CLM2	uc002jlb.2	Q496F6	OTTHUMG00000067605	ENST00000328630.3:c.280C>G	17.37:g.72613365G>C	ENSP00000329942:p.Leu94Val						p.L94V	NM_181449	NP_852114	Q496F6	CLM2_HUMAN			2	321	-			94			Ig-like V-type.|Extracellular (Potential).		B4DNS1|Q7Z7I3	Missense_Mutation	SNP	ENST00000328630.3	37	c.280C>G	CCDS11702.1	.	.	.	.	.	.	.	.	.	.	G	11.77	1.736807	0.30774	.	.	ENSG00000186407	ENST00000392619;ENST00000426295;ENST00000328630;ENST00000412268	T;T;T;T	0.70282	-0.47;-0.47;-0.47;-0.47	4.89	3.92	0.45320	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.162796	0.28595	N	0.014787	D	0.83714	0.5314	M	0.86420	2.815	0.29079	N	0.882825	D	0.89917	1.0	D	0.87578	0.998	T	0.78545	-0.2163	10	0.51188	T	0.08	-15.1675	9.7643	0.40552	0.0985:0.0:0.9015:0.0	.	94	Q496F6	CLM2_HUMAN	V	121;135;94;96	ENSP00000376395:L121V;ENSP00000416642:L135V;ENSP00000329942:L94V;ENSP00000415488:L96V	ENSP00000329942:L94V	L	-	1	0	CD300E	70124960	0.986000	0.35501	0.334000	0.25495	0.006000	0.05464	3.355000	0.52262	1.379000	0.46325	0.591000	0.81541	CTC		0.537	CD300E-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_181449		52	87	0	0	0	0.00361	0	52	87				
CD300LF	146722	broad.mit.edu	37	17	72694570	72694570	+	Nonsense_Mutation	SNP	A	A	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr17:72694570A>T	ENST00000326165.6	-	4	608	c.497T>A	c.(496-498)tTg>tAg	p.L166*	CD300LF_ENST00000343125.4_Intron|CD300LF_ENST00000469092.1_Intron|CD300LF_ENST00000583937.1_Nonsense_Mutation_p.L181*|CD300LF_ENST00000464910.1_Nonsense_Mutation_p.L169*|CD300LF_ENST00000581500.1_Nonsense_Mutation_p.L184*|CD300LF_ENST00000361254.4_Nonsense_Mutation_p.L184*|RAB37_ENST00000402449.4_Intron|CD300LF_ENST00000301573.9_Silent_p.I181I|RAB37_ENST00000340415.3_Intron	NM_139018.3	NP_620587.2	Q8TDQ1	CLM1_HUMAN	CD300 molecule-like family member f	166					immune system process (GO:0002376)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(2)|large_intestine(1)|lung(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						AAGCAGCAGCAATATGGTGAA	0.582																																							uc002jlg.2		NA																	0				upper_aerodigestive_tract(1)	1						c.(496-498)TTG>TAG		NK inhibitory receptor precursor							107.0	76.0	86.0					17																	72694570		2203	4300	6503	SO:0001587	stop_gained	146722					integral to membrane|plasma membrane	receptor activity	g.chr17:72694570A>T	BC028199	CCDS11704.1, CCDS74148.1, CCDS74149.1, CCDS74150.1, CCDS74151.1, CCDS74152.1	17q25.2	2013-01-11	2006-03-29		ENSG00000186074	ENSG00000186074		"""Immunoglobulin superfamily / V-set domain containing"""	29883	protein-coding gene	gene with protein product		609807	"""CD300 antigen like family member F"""			12975309	Standard	NM_139018		Approved	IREM1, NKIR, IGSF13, CD300f, CLM1	uc002jlg.3	Q8TDQ1	OTTHUMG00000067609	ENST00000326165.6:c.497T>A	17.37:g.72694570A>T	ENSP00000327075:p.Leu166*					RAB37_uc002jlc.2_Intron|RAB37_uc010dfu.2_Intron|RAB37_uc002jld.2_Intron|CD300LF_uc002jlf.2_Nonsense_Mutation_p.L169*|CD300LF_uc010dfw.2_Intron|CD300LF_uc002jlh.2_Silent_p.I181I|CD300LF_uc002jli.2_Intron|CD300LF_uc010wra.1_Nonsense_Mutation_p.L181*|CD300LF_uc002jlj.1_Nonsense_Mutation_p.L184*	p.L166*	NM_139018	NP_620587	Q8TDQ1	CLM1_HUMAN			4	600	-			166			Helical; (Potential).		B2RCL2|C9JDN3|Q3Y6P0|Q6UX24|Q7Z6A6|Q7Z7I4|Q7Z7I5|Q8N6D0|Q8NAF5	Nonsense_Mutation	SNP	ENST00000326165.6	37	c.497T>A	CCDS11704.1	.	.	.	.	.	.	.	.	.	.	A	12.12	1.842563	0.32606	.	.	ENSG00000186074	ENST00000361254;ENST00000326165	.	.	.	5.66	3.33	0.38152	.	0.571786	0.14312	N	0.327636	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.22109	T	0.4	.	5.2864	0.15704	0.7308:0.1786:0.0905:0.0	.	.	.	.	X	184;166	.	ENSP00000327075:L166X	L	-	2	0	CD300LF	70206165	0.709000	0.27886	0.379000	0.26080	0.045000	0.14185	2.772000	0.47678	0.979000	0.38497	0.460000	0.39030	TTG		0.582	CD300LF-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000145085.1	NM_139018		4	35	0	0	0	0.000602	0	4	35				
USH1G	124590	broad.mit.edu	37	17	72919127	72919127	+	Silent	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr17:72919127C>A	ENST00000319642.1	-	1	224	c.42G>T	c.(40-42)ctG>ctT	p.L14L	OTOP2_ENST00000580223.1_5'Flank|OTOP2_ENST00000331427.4_5'Flank	NM_001282489.1|NM_173477.2	NP_001269418.1|NP_775748.2	Q495M9	USH1G_HUMAN	Usher syndrome 1G (autosomal recessive)	14					equilibrioception (GO:0050957)|inner ear morphogenesis (GO:0042472)|inner ear receptor cell differentiation (GO:0060113)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	spectrin binding (GO:0030507)		HN1/USH1G(2)	endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(3)	14	all_lung(278;0.172)|Lung NSC(278;0.207)					TGAGGAGCTCCAGGTAGCCAT	0.687																																							uc002jme.1		NA																	0				skin(2)	2						c.(40-42)CTG>CTT		Usher syndrome 1G protein							26.0	21.0	23.0					17																	72919127		2190	4292	6482	SO:0001819	synonymous_variant	124590				equilibrioception|photoreceptor cell maintenance|sensory perception of sound	actin cytoskeleton		g.chr17:72919127C>A	AK091243	CCDS32725.1	17q25.1	2013-01-10			ENSG00000182040	ENSG00000182040		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	16356	protein-coding gene	gene with protein product		607696				12588794	Standard	NM_001282489		Approved	Sans, FLJ33924, ANKS4A	uc002jme.1	Q495M9	OTTHUMG00000178864	ENST00000319642.1:c.42G>T	17.37:g.72919127C>A						USH1G_uc010wro.1_5'UTR|OTOP2_uc002jmf.1_5'Flank|OTOP2_uc010wrp.1_5'Flank	p.L14L	NM_173477	NP_775748	Q495M9	USH1G_HUMAN			1	225	-	all_lung(278;0.172)|Lung NSC(278;0.207)		14					Q8N251	Silent	SNP	ENST00000319642.1	37	c.42G>T	CCDS32725.1																																																																																				0.687	USH1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443676.1	NM_173477		5	2	1	0	2.7689e-08	0.001984	3.30238e-08	5	2				
OTOP2	92736	broad.mit.edu	37	17	72926928	72926928	+	Missense_Mutation	SNP	G	G	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr17:72926928G>A	ENST00000580223.1	+	5	1228	c.1198G>A	c.(1198-1200)Gca>Aca	p.A400T	OTOP2_ENST00000331427.4_Missense_Mutation_p.A400T			Q7RTS6	OTOP2_HUMAN	otopetrin 2	400						integral component of membrane (GO:0016021)				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|prostate(4)|skin(1)|urinary_tract(2)	39	all_lung(278;0.172)|Lung NSC(278;0.207)					GGACCTGCTGGCAGGGCTCAA	0.622																																							uc010wrp.1		NA																	0				ovary(3)|large_intestine(1)	4						c.(1198-1200)GCA>ACA		otopetrin 2							80.0	65.0	70.0					17																	72926928		2203	4300	6503	SO:0001583	missense	92736					integral to membrane		g.chr17:72926928G>A	BK000567	CCDS11708.1	17q25.3	2006-09-20				ENSG00000183034			19657	protein-coding gene	gene with protein product		607827				12651873	Standard	NM_178160		Approved		uc010wrp.2	Q7RTS6		ENST00000580223.1:c.1198G>A	17.37:g.72926928G>A	ENSP00000463837:p.Ala400Thr						p.A400T	NM_178160	NP_835454	Q7RTS6	OTOP2_HUMAN			7	1287	+	all_lung(278;0.172)|Lung NSC(278;0.207)		400						Missense_Mutation	SNP	ENST00000580223.1	37	c.1198G>A	CCDS11708.1	.	.	.	.	.	.	.	.	.	.	G	11.16	1.556025	0.27827	.	.	ENSG00000183034	ENST00000331427	T	0.22539	1.95	5.47	4.5	0.54988	.	0.412520	0.28595	N	0.014786	T	0.08447	0.0210	N	0.04880	-0.145	0.09310	N	0.999993	B	0.29212	0.237	B	0.27380	0.079	T	0.31943	-0.9925	10	0.15066	T	0.55	-14.9307	6.6712	0.23070	0.3048:0.0:0.6952:0.0	.	400	Q7RTS6	OTOP2_HUMAN	T	400	ENSP00000332528:A400T	ENSP00000332528:A400T	A	+	1	0	OTOP2	70438523	0.234000	0.23783	0.330000	0.25442	0.277000	0.26821	1.780000	0.38634	1.313000	0.45069	0.456000	0.33151	GCA		0.622	OTOP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445306.1	NM_178160		21	71	0	0	0	0.001882	0	21	71				
GRB2	2885	broad.mit.edu	37	17	73317755	73317755	+	Missense_Mutation	SNP	T	T	C			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr17:73317755T>C	ENST00000392562.1	-	5	1235	c.453A>G	c.(451-453)atA>atG	p.I151M	GRB2_ENST00000392564.1_Missense_Mutation_p.I151M|GRB2_ENST00000462266.1_5'UTR|GRB2_ENST00000392563.1_Missense_Mutation_p.I110M|GRB2_ENST00000578961.1_Intron|GRB2_ENST00000316615.5_Missense_Mutation_p.I110M|GRB2_ENST00000316804.5_Missense_Mutation_p.I151M			P62993	GRB2_HUMAN	growth factor receptor-bound protein 2	151	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				aging (GO:0007568)|anatomical structure formation involved in morphogenesis (GO:0048646)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|branching involved in labyrinthine layer morphogenesis (GO:0060670)|cell-cell signaling (GO:0007267)|cellular response to ionizing radiation (GO:0071479)|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)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|protein heterooligomerization (GO:0051291)|Ras protein signal transduction (GO:0007265)|receptor internalization (GO:0031623)|regulation of MAPK cascade (GO:0043408)|signal transduction in response to DNA damage (GO:0042770)|T cell costimulation (GO:0031295)|viral process (GO:0016032)	cell-cell junction (GO:0005911)|COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Grb2-EGFR complex (GO:0070436)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle membrane (GO:0012506)	ephrin receptor binding (GO:0046875)|epidermal growth factor receptor binding (GO:0005154)|identical protein binding (GO:0042802)|insulin receptor substrate binding (GO:0043560)|neurotrophin TRKA receptor binding (GO:0005168)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|SH3 domain binding (GO:0017124)|SH3/SH2 adaptor activity (GO:0005070)			breast(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(3)|skin(1)	17	all_cancers(13;5.44e-09)|all_epithelial(9;1.1e-09)|Breast(9;1.85e-09)|all_lung(278;0.222)		all cancers(21;1.09e-07)|Epithelial(20;1.23e-06)|Lung(188;0.185)		Pegademase bovine(DB00061)	GCACCTGTTCTATGTCCCGCA	0.478																																							uc002jnx.3		NA																	0				ovary(3)	3						c.(451-453)ATA>ATG		growth factor receptor-bound protein 2 isoform	Pegademase bovine(DB00061)						105.0	101.0	102.0					17																	73317755		2203	4300	6503	SO:0001583	missense	2885				axon guidance|blood coagulation|cell junction assembly|cell-cell signaling|cellular response to ionizing radiation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of reactive oxygen species metabolic process|Ras protein signal transduction|receptor internalization|signal transduction in response to DNA damage|T cell costimulation	cytosol|Golgi apparatus	epidermal growth factor receptor binding|insulin receptor substrate binding|SH3/SH2 adaptor activity	g.chr17:73317755T>C		CCDS11721.1, CCDS11722.1	17q24-q25	2013-02-14			ENSG00000177885	ENSG00000177885		"""SH2 domain containing"""	4566	protein-coding gene	gene with protein product		108355					Standard	NM_002086		Approved	NCKAP2	uc002jnx.4	P62993	OTTHUMG00000134332	ENST00000392562.1:c.453A>G	17.37:g.73317755T>C	ENSP00000376345:p.Ile151Met					GRB2_uc002jny.3_Missense_Mutation_p.I110M	p.I151M	NM_002086	NP_002077	P62993	GRB2_HUMAN	all cancers(21;1.09e-07)|Epithelial(20;1.23e-06)|Lung(188;0.185)		5	810	-	all_cancers(13;5.44e-09)|all_epithelial(9;1.1e-09)|Breast(9;1.85e-09)|all_lung(278;0.222)		151			SH2.		P29354|Q14450|Q63057|Q63059	Missense_Mutation	SNP	ENST00000392562.1	37	c.453A>G	CCDS11721.1	.	.	.	.	.	.	.	.	.	.	T	9.270	1.045315	0.19748	.	.	ENSG00000177885	ENST00000316804;ENST00000392562;ENST00000392564;ENST00000392563;ENST00000316615	T;T;T;D;D	0.82803	1.77;1.77;1.77;-1.65;-1.65	5.7	3.4	0.38934	SH2 motif (2);	0.000000	0.85682	D	0.000000	T	0.58921	0.2156	N	0.02674	-0.535	0.53688	D	0.999972	B;B	0.15473	0.013;0.001	B;B	0.12837	0.008;0.004	T	0.45498	-0.9257	10	0.34782	T	0.22	-22.8983	6.5269	0.22307	0.3065:0.0:0.3409:0.3526	.	110;151	P62993-2;P62993	.;GRB2_HUMAN	M	151;151;151;110;110	ENSP00000339007:I151M;ENSP00000376345:I151M;ENSP00000376347:I151M;ENSP00000376346:I110M;ENSP00000317360:I110M	ENSP00000317360:I110M	I	-	3	3	GRB2	70829350	0.999000	0.42202	1.000000	0.80357	0.998000	0.95712	0.548000	0.23314	0.390000	0.25115	0.528000	0.53228	ATA		0.478	GRB2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259476.1			19	78	0	0	0	0.003954	0	19	78				
QRICH2	84074	broad.mit.edu	37	17	74271963	74271963	+	Missense_Mutation	SNP	T	T	C			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr17:74271963T>C	ENST00000262765.5	-	18	5100	c.4921A>G	c.(4921-4923)Agc>Ggc	p.S1641G		NM_032134.1	NP_115510.1	Q9H0J4	QRIC2_HUMAN	glutamine rich 2	1641										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4)	62						CCATTGCTGCTGAGGGATGGC	0.667																																							uc002jrd.1		NA																	0				ovary(1)|pancreas(1)|lung(1)|central_nervous_system(1)|skin(1)	5						c.(4921-4923)AGC>GGC		glutamine rich 2							85.0	70.0	75.0					17																	74271963		2203	4300	6503	SO:0001583	missense	84074						protein binding	g.chr17:74271963T>C	AK058102	CCDS32741.1	17q25.1	2009-03-19			ENSG00000129646	ENSG00000129646			25326	protein-coding gene	gene with protein product							Standard	NM_032134		Approved	DKFZP434P0316	uc002jrd.1	Q9H0J4	OTTHUMG00000167578	ENST00000262765.5:c.4921A>G	17.37:g.74271963T>C	ENSP00000262765:p.Ser1641Gly					QRICH2_uc010wsz.1_Missense_Mutation_p.Q1333R|QRICH2_uc010dgw.1_Missense_Mutation_p.S485G	p.S1641G	NM_032134	NP_115510	Q9H0J4	QRIC2_HUMAN			18	5101	-			1641					A2RRE1|Q96LM3	Missense_Mutation	SNP	ENST00000262765.5	37	c.4921A>G	CCDS32741.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	t|t	4.277|4.277	0.050576|0.050576	0.08243|0.08243	.|.	.|.	ENSG00000129646|ENSG00000129646	ENST00000447564;ENST00000532549|ENST00000262765;ENST00000301613	T|T	0.52526|0.08896	0.66|3.04	3.88|3.88	-7.75|-7.75	0.01236|0.01236	.|.	.|.	.|.	.|.	.|.	T|T	0.03959|0.03959	0.0111|0.0111	N|N	0.11560|0.11560	0.145|0.145	0.09310|0.09310	N|N	1|1	.|B	.|0.02656	.|0.0	.|B	.|0.01281	.|0.0	T|T	0.46857|0.46857	-0.9161|-0.9161	7|9	0.13470|0.10902	T|T	0.59|0.67	0.634|0.634	15.8121|15.8121	0.78573|0.78573	0.0:0.1367:0.0:0.8633|0.0:0.1367:0.0:0.8633	.|.	.|1641	.|Q9H0J4	.|QRIC2_HUMAN	R|G	415;239|1641;1407	ENSP00000394461:Q415R|ENSP00000262765:S1641G	ENSP00000394461:Q415R|ENSP00000262765:S1641G	Q|S	-|-	2|1	0|0	QRICH2|QRICH2	71783558|71783558	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.001000|0.001000	0.01503|0.01503	-1.484000|-1.484000	0.02316|0.02316	-2.239000|-2.239000	0.00711|0.00711	-1.519000|-1.519000	0.00935|0.00935	CAG|AGC		0.667	QRICH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395140.1	NM_032134		24	50	0	0	0	0.00632	0	24	50				
MGAT5B	146664	broad.mit.edu	37	17	74922712	74922712	+	Silent	SNP	G	G	A	rs144217759		TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr17:74922712G>A	ENST00000569840.2	+	10	1765	c.1191G>A	c.(1189-1191)acG>acA	p.T397T	MGAT5B_ENST00000428789.2_Silent_p.T408T|MGAT5B_ENST00000301618.4_Silent_p.T397T	NM_001199172.1	NP_001186101.1	Q3V5L5	MGT5B_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isozyme B	397					protein N-linked glycosylation (GO:0006487)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase activity (GO:0030144)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(15)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CCTTCGGGACGGAACCTGCGT	0.622																																							uc002jti.2		NA																	0				ovary(2)|skin(1)	3						c.(1222-1224)ACG>ACA		N-acetylglucosaminyltranferase VB isoform 2		G	,,	1,4401	2.1+/-5.4	0,1,2200	95.0	77.0	83.0		1191,1191,1224	-6.2	0.8	17	dbSNP_134	83	1,8591	1.2+/-3.3	0,1,4295	no	coding-synonymous,coding-synonymous,coding-synonymous	MGAT5B	NM_001199172.1,NM_144677.2,NM_198955.1	,,	0,2,6495	AA,AG,GG		0.0116,0.0227,0.0154	,,	397/793,397/791,408/802	74922712	2,12992	2201	4296	6497	SO:0001819	synonymous_variant	146664					Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity|metal ion binding	g.chr17:74922712G>A	AB109185	CCDS11751.1, CCDS45788.1, CCDS59299.1	17q25.3	2013-02-25	2005-11-16		ENSG00000167889	ENSG00000167889		"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	24140	protein-coding gene	gene with protein product		612441	"""mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isoenzyme B"""			14617637, 14623122	Standard	NM_001199172		Approved	GnT-IX, FLJ25132, GnT-VB	uc002jth.3	Q3V5L5	OTTHUMG00000177278	ENST00000569840.2:c.1191G>A	17.37:g.74922712G>A						MGAT5B_uc002jth.2_Silent_p.T397T	p.T408T	NM_198955	NP_945193	Q3V5L5	MGT5B_HUMAN			9	1327	+			397			Lumenal (Potential).		Q6P3S8|Q6P6B3|Q766X5|Q76D04|Q96LS2	Silent	SNP	ENST00000569840.2	37	c.1224G>A	CCDS59299.1																																																																																				0.622	MGAT5B-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460624.2	NM_144677		16	49	0	0	0	0.004007	0	16	49				
HGS	9146	broad.mit.edu	37	17	79662894	79662894	+	Missense_Mutation	SNP	G	G	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr17:79662894G>A	ENST00000329138.4	+	15	1393	c.1258G>A	c.(1258-1260)Gtg>Atg	p.V420M		NM_004712.4	NP_004703.1	O14964	HGS_HUMAN	hepatocyte growth factor-regulated tyrosine kinase substrate	420	Interaction with SNX1. {ECO:0000250}.				endosomal transport (GO:0016197)|endosome to lysosome transport (GO:0008333)|epidermal growth factor receptor signaling pathway (GO:0007173)|membrane invagination (GO:0010324)|membrane organization (GO:0061024)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of JAK-STAT cascade (GO:0046426)|positive regulation of gene expression (GO:0010628)|protein localization to membrane (GO:0072657)|protein targeting to lysosome (GO:0006622)|regulation of protein catabolic process (GO:0042176)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|secretory granule (GO:0030141)	metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)			endometrium(2)|kidney(3)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12	all_neural(118;0.0878)|all_lung(278;0.23)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)			CACCACCTTCGTGAACCGCAT	0.602																																							uc002kbg.2		NA																	0				ovary(1)	1						c.(1258-1260)GTG>ATG		hepatocyte growth factor-regulated tyrosine							83.0	63.0	69.0					17																	79662894		2203	4300	6503	SO:0001583	missense	9146				cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of JAK-STAT cascade|regulation of protein catabolic process	cytosol|early endosome membrane|multivesicular body membrane	metal ion binding|protein domain specific binding	g.chr17:79662894G>A	D84064	CCDS11784.1	17q25	2009-04-29				ENSG00000185359		"""Zinc fingers, FYVE domain containing"""	4897	protein-coding gene	gene with protein product		604375				9407053, 9630564	Standard	NM_004712		Approved	Hrs, ZFYVE8, Vps27	uc002kbg.3	O14964		ENST00000329138.4:c.1258G>A	17.37:g.79662894G>A	ENSP00000331201:p.Val420Met						p.V420M	NM_004712	NP_004703	O14964	HGS_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)		15	1335	+	all_neural(118;0.0878)|all_lung(278;0.23)		420			Interaction with SNX1 (By similarity).		Q9NR36	Missense_Mutation	SNP	ENST00000329138.4	37	c.1258G>A	CCDS11784.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.018301	0.75275	.	.	ENSG00000185359	ENST00000329138;ENST00000442335	T	0.04454	3.62	5.16	4.19	0.49359	Hepatocyte growth factor-regulated tyrosine kinase substrate, helical domain (1);	0.079410	0.52532	D	0.000073	T	0.08582	0.0213	N	0.24115	0.695	0.45284	D	0.99828	D	0.60160	0.987	P	0.62382	0.901	T	0.17992	-1.0351	10	0.87932	D	0	-54.8328	7.8953	0.29702	0.0822:0.0:0.759:0.1588	.	420	O14964	HGS_HUMAN	M	420	ENSP00000331201:V420M	ENSP00000331201:V420M	V	+	1	0	HGS	77273299	1.000000	0.71417	0.983000	0.44433	0.931000	0.56810	5.354000	0.66040	1.173000	0.42796	0.467000	0.42956	GTG		0.602	HGS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440541.1	NM_004712		16	54	0	0	0	0.004007	0	16	54				
CETN1	1068	broad.mit.edu	37	18	580575	580575	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr18:580575C>A	ENST00000327228.3	+	1	209	c.167C>A	c.(166-168)gCc>gAc	p.A56D		NM_004066.1	NP_004057.1	Q12798	CETN1_HUMAN	centrin, EF-hand protein, 1	56	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				cellular response to heat (GO:0034605)|mitotic nuclear division (GO:0007067)	centriole (GO:0005814)|centrosome (GO:0005813)|photoreceptor connecting cilium (GO:0032391)|spindle pole (GO:0000922)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|calcium ion binding (GO:0005509)|nucleic acid binding (GO:0003676)			breast(2)|cervix(1)|endometrium(3)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(2)	25						CTGAAGGTGGCCATGAGAGCG	0.552																																							uc002kko.1		NA																	0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(166-168)GCC>GAC		centrin 1							84.0	64.0	70.0					18																	580575		2203	4300	6503	SO:0001583	missense	1068				cell division|mitosis	spindle pole	ATP binding|ATP-dependent helicase activity|calcium ion binding|nucleic acid binding	g.chr18:580575C>A	U03270	CCDS11820.1	18p11.32	2013-01-10			ENSG00000177143	ENSG00000177143		"""EF-hand domain containing"""	1866	protein-coding gene	gene with protein product		603187		CETN		8175926	Standard	NM_004066		Approved	CEN1	uc002kko.1	Q12798	OTTHUMG00000131471	ENST00000327228.3:c.167C>A	18.37:g.580575C>A	ENSP00000319052:p.Ala56Asp						p.A56D	NM_004066	NP_004057	Q12798	CETN1_HUMAN			1	209	+			56			EF-hand 1.		B2R536	Missense_Mutation	SNP	ENST00000327228.3	37	c.167C>A	CCDS11820.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.978548	0.74360	.	.	ENSG00000177143	ENST00000327228	T	0.73363	-0.74	5.2	4.33	0.51752	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	D	0.89653	0.6777	H	0.97186	3.955	0.80722	D	1	D	0.65815	0.995	D	0.70227	0.968	D	0.92084	0.5675	10	0.87932	D	0	.	11.7501	0.51843	0.0:0.9146:0.0:0.0854	.	56	Q12798	CETN1_HUMAN	D	56	ENSP00000319052:A56D	ENSP00000319052:A56D	A	+	2	0	CETN1	570575	0.998000	0.40836	1.000000	0.80357	0.445000	0.32107	3.184000	0.50926	1.565000	0.49641	0.655000	0.94253	GCC		0.552	CETN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254314.2	NM_004066		54	50	1	0	1.85204e-48	0.00361	2.9804e-48	54	50				
CLUL1	27098	broad.mit.edu	37	18	633426	633426	+	Silent	SNP	C	C	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr18:633426C>T	ENST00000400606.2	+	6	1130	c.985C>T	c.(985-987)Cta>Tta	p.L329L	CLUL1_ENST00000338387.7_Silent_p.L329L|CLUL1_ENST00000581619.1_Silent_p.L354L|CLUL1_ENST00000579494.1_Silent_p.L329L|CLUL1_ENST00000540035.1_Silent_p.L381L	NM_014410.4	NP_055225.1	Q15846	CLUL1_HUMAN	clusterin-like 1 (retinal)	329					cell death (GO:0008219)	extracellular region (GO:0005576)				NS(1)|breast(1)|endometrium(5)|large_intestine(5)|liver(2)|lung(7)|ovary(2)|skin(1)	24						TCAGGCTCACCTATCTGAAGG	0.363																																							uc002kkp.2		NA																	0				ovary(2)	2						c.(985-987)CTA>TTA		clusterin-like 1 (retinal) precursor							66.0	63.0	64.0					18																	633426		1831	4080	5911	SO:0001819	synonymous_variant	27098				cell death	extracellular region		g.chr18:633426C>T	D63813	CCDS42405.1, CCDS74187.1	18p11.32	2008-07-28				ENSG00000079101			2096	protein-coding gene	gene with protein product						10675623, 14507903	Standard	NM_199167		Approved		uc002kkq.3	Q15846		ENST00000400606.2:c.985C>T	18.37:g.633426C>T						CLUL1_uc010wys.1_Silent_p.L381L|CLUL1_uc002kkq.2_Silent_p.L329L	p.L329L	NM_014410	NP_055225	Q15846	CLUL1_HUMAN			6	1130	+			329					A0FDN7	Silent	SNP	ENST00000400606.2	37	c.985C>T	CCDS42405.1																																																																																				0.363	CLUL1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441183.1			13	54	0	0	0	0.00499	0	13	54				
NDC80	10403	broad.mit.edu	37	18	2577750	2577750	+	Missense_Mutation	SNP	G	G	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr18:2577750G>A	ENST00000261597.4	+	4	367	c.185G>A	c.(184-186)aGt>aAt	p.S62N		NM_006101.2	NP_006092.1	O14777	NDC80_HUMAN	NDC80 kinetochore complex component	62	Interaction with the N-terminus of CDCA1.|Nuclear localization.				attachment of spindle microtubules to kinetochore (GO:0008608)|chromosome segregation (GO:0007059)|establishment of mitotic spindle orientation (GO:0000132)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle organization (GO:0007052)	chromosome, centromeric region (GO:0000775)|condensed chromosome kinetochore (GO:0000777)|condensed nuclear chromosome outer kinetochore (GO:0000942)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|Ndc80 complex (GO:0031262)|nucleus (GO:0005634)				NS(1)|biliary_tract(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)|urinary_tract(2)	22						TCCAGAACTAGTGGACATGGA	0.353																																							uc002kli.2		NA																	0				ovary(1)	1						c.(184-186)AGT>AAT		kinetochore associated 2							62.0	63.0	63.0					18																	2577750		2203	4300	6503	SO:0001583	missense	10403				attachment of spindle microtubules to kinetochore|cell division|establishment of mitotic spindle orientation|mitotic prometaphase|mitotic sister chromatid segregation|mitotic spindle organization|phosphatidylinositol-mediated signaling	condensed nuclear chromosome outer kinetochore|cytosol|Ndc80 complex	protein binding	g.chr18:2577750G>A	AF017790	CCDS11827.1	18p11.31	2013-01-17	2013-01-17	2007-03-02	ENSG00000080986	ENSG00000080986			16909	protein-coding gene	gene with protein product		607272	"""highly expressed in cancer, rich in leucine heptad repeats (yeast)"", ""kinetochore associated 2"", ""NDC80 kinetochore complex component homolog (S. cerevisiae)"""	KNTC2		9315664, 12351790	Standard	NM_006101		Approved	HEC, HEC1, hsNDC80, TID3	uc002kli.3	O14777	OTTHUMG00000131483	ENST00000261597.4:c.185G>A	18.37:g.2577750G>A	ENSP00000261597:p.Ser62Asn						p.S62N	NM_006101	NP_006092	O14777	NDC80_HUMAN			4	367	+			62			Interaction with the N-terminus of CDCA1.|Nuclear localization.		Q6PJX2	Missense_Mutation	SNP	ENST00000261597.4	37	c.185G>A	CCDS11827.1	.	.	.	.	.	.	.	.	.	.	G	17.17	3.320460	0.60634	.	.	ENSG00000080986	ENST00000261597;ENST00000543946	T	0.29397	1.57	5.62	5.62	0.85841	.	0.131013	0.64402	D	0.000001	T	0.55433	0.1920	M	0.61703	1.905	0.58432	D	0.999994	D	0.76494	0.999	D	0.72338	0.977	T	0.54166	-0.8334	10	0.59425	D	0.04	-14.3045	19.69	0.95996	0.0:0.0:1.0:0.0	.	62	O14777	NDC80_HUMAN	N	62	ENSP00000261597:S62N	ENSP00000261597:S62N	S	+	2	0	NDC80	2567750	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.444000	0.73452	2.648000	0.89879	0.650000	0.86243	AGT		0.353	NDC80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254327.1	NM_006101		21	118	0	0	0	0.003954	0	21	118				
EMILIN2	84034	broad.mit.edu	37	18	2891450	2891450	+	Missense_Mutation	SNP	C	C	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr18:2891450C>T	ENST00000254528.3	+	4	1484	c.1325C>T	c.(1324-1326)cCa>cTa	p.P442L		NM_032048.2	NP_114437.2	Q9BXX0	EMIL2_HUMAN	elastin microfibril interfacer 2	442					cell adhesion (GO:0007155)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix constituent conferring elasticity (GO:0030023)			breast(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(4)	48				READ - Rectum adenocarcinoma(2;0.1)		GTTCCAGAGCCAGATGTGGAT	0.433																																							uc002kln.2		NA																	0				skin(2)|ovary(1)	3						c.(1324-1326)CCA>CTA		elastin microfibril interfacer 2 precursor							80.0	82.0	81.0					18																	2891450		2203	4300	6503	SO:0001583	missense	84034				cell adhesion	collagen	extracellular matrix constituent conferring elasticity|protein binding	g.chr18:2891450C>T	AF270513	CCDS11828.1	18p11.3	2008-02-05			ENSG00000132205	ENSG00000132205		"""EMI domain containing"""	19881	protein-coding gene	gene with protein product		608928					Standard	NM_032048		Approved	FLJ33200, FOAP-10	uc002kln.3	Q9BXX0	OTTHUMG00000128525	ENST00000254528.3:c.1325C>T	18.37:g.2891450C>T	ENSP00000254528:p.Pro442Leu						p.P442L	NM_032048	NP_114437	Q9BXX0	EMIL2_HUMAN		READ - Rectum adenocarcinoma(2;0.1)	4	1484	+			442					B2RMY3|Q8NBH3|Q96JQ4	Missense_Mutation	SNP	ENST00000254528.3	37	c.1325C>T	CCDS11828.1	.	.	.	.	.	.	.	.	.	.	C	1.654	-0.513103	0.04200	.	.	ENSG00000132205	ENST00000254528	T	0.04317	3.65	5.39	4.52	0.55395	.	0.488838	0.20155	N	0.098068	T	0.05410	0.0143	L	0.43152	1.355	0.09310	N	0.999999	B	0.14012	0.009	B	0.11329	0.006	T	0.34925	-0.9809	10	0.23302	T	0.38	-1.846	10.8481	0.46754	0.0:0.8361:0.0:0.1639	.	442	Q9BXX0	EMIL2_HUMAN	L	442	ENSP00000254528:P442L	ENSP00000254528:P442L	P	+	2	0	EMILIN2	2881450	0.001000	0.12720	0.160000	0.22671	0.333000	0.28666	0.612000	0.24283	1.270000	0.44297	0.557000	0.71058	CCA		0.433	EMILIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250337.2	NM_032048		44	109	0	0	0	0.003214	0	44	109				
EPB41L3	23136	broad.mit.edu	37	18	5394744	5394744	+	Missense_Mutation	SNP	A	A	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr18:5394744A>T	ENST00000341928.2	-	22	3542	c.3202T>A	c.(3202-3204)Tca>Aca	p.S1068T	EPB41L3_ENST00000540638.2_Missense_Mutation_p.S846T|EPB41L3_ENST00000544123.1_Intron|EPB41L3_ENST00000342933.3_Missense_Mutation_p.S1068T|EPB41L3_ENST00000542146.1_Missense_Mutation_p.S373T|EPB41L3_ENST00000542652.2_5'UTR|EPB41L3_ENST00000400111.3_Missense_Mutation_p.S846T|EPB41L3_ENST00000427684.2_Missense_Mutation_p.S365T	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	1068	C-terminal (CTD).				apoptotic process (GO:0006915)|cortical actin cytoskeleton organization (GO:0030866)|cortical cytoskeleton organization (GO:0030865)|cytoskeletal anchoring at plasma membrane (GO:0007016)|myelin maintenance (GO:0043217)|neuron projection morphogenesis (GO:0048812)|paranodal junction assembly (GO:0030913)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|protein localization to plasma membrane (GO:0072659)|regulation of cell shape (GO:0008360)	axolemma (GO:0030673)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|juxtaparanode region of axon (GO:0044224)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						TTGGTCACTGACATGTCAGGG	0.507																																							uc002kmt.1		NA																	0				ovary(5)	5						c.(3202-3204)TCA>ACA		erythrocyte membrane protein band 4.1-like 3							246.0	195.0	212.0					18																	5394744		2203	4300	6503	SO:0001583	missense	23136				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity	g.chr18:5394744A>T	AB023204	CCDS11838.1, CCDS62381.1, CCDS62382.1	18p11.32	2006-06-28			ENSG00000082397	ENSG00000082397			3380	protein-coding gene	gene with protein product		605331				9828140, 9892180	Standard	NM_012307		Approved	DAL1, KIAA0987, 4.1B	uc002kmt.1	Q9Y2J2	OTTHUMG00000131562	ENST00000341928.2:c.3202T>A	18.37:g.5394744A>T	ENSP00000343158:p.Ser1068Thr					EPB41L3_uc010wzh.1_Intron|EPB41L3_uc002kmu.1_Missense_Mutation_p.S846T|EPB41L3_uc010dkq.1_Missense_Mutation_p.S737T|EPB41L3_uc002kms.1_Missense_Mutation_p.S303T|EPB41L3_uc010wze.1_Missense_Mutation_p.S373T|EPB41L3_uc010wzf.1_Missense_Mutation_p.S365T|EPB41L3_uc010wzg.1_Missense_Mutation_p.S340T|EPB41L3_uc010dkr.2_Missense_Mutation_p.S460T	p.S1068T	NM_012307	NP_036439	Q9Y2J2	E41L3_HUMAN			22	3288	-			1068			Carboxyl-terminal (CTD).		B7Z4I5|F5GX05|O95713|Q9BRP5	Missense_Mutation	SNP	ENST00000341928.2	37	c.3202T>A	CCDS11838.1	.	.	.	.	.	.	.	.	.	.	A	23.7	4.450535	0.84101	.	.	ENSG00000082397	ENST00000341928;ENST00000540638;ENST00000545076;ENST00000427684;ENST00000542146;ENST00000342933;ENST00000400111	T;T;T;T;T	0.78816	-1.21;-1.21;-1.21;-1.21;-1.21	5.82	5.82	0.92795	Band 4.1, C-terminal (1);	0.000000	0.64402	D	0.000001	T	0.82070	0.4957	L	0.38733	1.17	0.80722	D	1	D;P;D;D;P;D;P	0.76494	0.994;0.815;0.999;0.99;0.463;0.999;0.725	D;P;D;P;B;D;P	0.87578	0.977;0.646;0.991;0.846;0.211;0.998;0.842	T	0.78081	-0.2343	10	0.17832	T	0.49	.	16.1814	0.81903	1.0:0.0:0.0:0.0	.	365;373;460;737;846;1068;303	E7EUF8;F5H7W5;B7Z8M8;A8K968;Q9Y2J2-2;Q9Y2J2;B3KT50	.;.;.;.;.;E41L3_HUMAN;.	T	1068;737;737;365;373;1068;846	ENSP00000343158:S1068T;ENSP00000392195:S365T;ENSP00000442233:S373T;ENSP00000341138:S1068T;ENSP00000382981:S846T	ENSP00000343158:S1068T	S	-	1	0	EPB41L3	5384744	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.251000	0.78297	2.234000	0.73211	0.533000	0.62120	TCA		0.507	EPB41L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254424.1	NM_012307		19	274	0	0	0	0.004656	0	19	274				
LAMA1	284217	broad.mit.edu	37	18	7011460	7011460	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr18:7011460G>T	ENST00000389658.3	-	25	3619	c.3526C>A	c.(3526-3528)Cag>Aag	p.Q1176K		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	1176	Laminin IV type A 2. {ECO:0000255|PROSITE-ProRule:PRU00458}.				axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				AGAAGAGGCTGATCGGAGCCC	0.532																																							uc002knm.2		NA																	0				ovary(8)|large_intestine(4)|upper_aerodigestive_tract(2)|breast(2)|skin(2)|pancreas(2)|central_nervous_system(1)	21						c.(3526-3528)CAG>AAG		laminin, alpha 1 precursor	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						28.0	29.0	28.0					18																	7011460		2203	4300	6503	SO:0001583	missense	284217				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding	g.chr18:7011460G>T	X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"""Laminins"""	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.3526C>A	18.37:g.7011460G>T	ENSP00000374309:p.Gln1176Lys					LAMA1_uc010wzj.1_Missense_Mutation_p.Q652K	p.Q1176K	NM_005559	NP_005550	P25391	LAMA1_HUMAN			25	3620	-		Colorectal(10;0.172)	1176			Laminin IV type A 2.			Missense_Mutation	SNP	ENST00000389658.3	37	c.3526C>A	CCDS32787.1	.	.	.	.	.	.	.	.	.	.	G	13.53	2.263696	0.39995	.	.	ENSG00000101680	ENST00000389658	T	0.17370	2.28	5.68	3.82	0.43975	.	0.085546	0.50627	D	0.000120	T	0.19485	0.0468	M	0.74258	2.255	0.21105	N	0.99979	B	0.31581	0.329	B	0.21546	0.035	T	0.20472	-1.0274	10	0.13853	T	0.58	.	16.5096	0.84281	0.0:0.3855:0.6145:0.0	.	1176	P25391	LAMA1_HUMAN	K	1176	ENSP00000374309:Q1176K	ENSP00000374309:Q1176K	Q	-	1	0	LAMA1	7001460	0.770000	0.28543	0.095000	0.20976	0.811000	0.45836	2.938000	0.48987	1.375000	0.46248	0.643000	0.83706	CAG		0.532	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1	NM_005559		8	19	1	0	0.000442599	0.006214	0.000475594	8	19				
ANKRD12	23253	broad.mit.edu	37	18	9255108	9255108	+	Missense_Mutation	SNP	G	G	C			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr18:9255108G>C	ENST00000262126.4	+	9	2083	c.1843G>C	c.(1843-1845)Gaa>Caa	p.E615Q	ANKRD12_ENST00000400020.3_Missense_Mutation_p.E592Q|ANKRD12_ENST00000383440.2_Missense_Mutation_p.E592Q	NM_015208.4	NP_056023.3	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12	615						cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						TTTCCACTTAGAATTTGGTGA	0.308																																							uc002knv.2		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(1843-1845)GAA>CAA		ankyrin repeat domain 12 isoform 1							44.0	49.0	47.0					18																	9255108		2202	4289	6491	SO:0001583	missense	23253					nucleus		g.chr18:9255108G>C	AY373757	CCDS11843.1, CCDS42411.1	18p11.22	2013-01-10			ENSG00000101745	ENSG00000101745		"""Ankyrin repeat domain containing"""	29135	protein-coding gene	gene with protein product		610616				10048485	Standard	NM_001204056		Approved	KIAA0874, FLJ20053, GAC-1	uc002knv.3	Q6UB98	OTTHUMG00000131595	ENST00000262126.4:c.1843G>C	18.37:g.9255108G>C	ENSP00000262126:p.Glu615Gln					ANKRD12_uc002knw.2_Missense_Mutation_p.E592Q|ANKRD12_uc002knx.2_Missense_Mutation_p.E592Q|ANKRD12_uc010dkx.1_Missense_Mutation_p.E322Q	p.E615Q	NM_015208	NP_056023	Q6UB98	ANR12_HUMAN			9	2100	+			615					O94951|Q658K1|Q6QMF7|Q9H231|Q9H784	Missense_Mutation	SNP	ENST00000262126.4	37	c.1843G>C	CCDS11843.1	.	.	.	.	.	.	.	.	.	.	G	14.13	2.442774	0.43326	.	.	ENSG00000101745	ENST00000383440;ENST00000262126;ENST00000359158	D;D	0.92965	-3.14;-3.14	5.53	5.53	0.82687	.	0.052371	0.85682	D	0.000000	D	0.91730	0.7385	L	0.35487	1.065	0.44142	D	0.996938	D;P;B	0.53885	0.963;0.836;0.321	P;P;B	0.52957	0.714;0.603;0.177	D	0.90408	0.4407	10	0.32370	T	0.25	-11.3783	19.4706	0.94962	0.0:0.0:1.0:0.0	.	242;592;615	Q9NXU3;Q6UB98-2;Q6UB98	.;.;ANR12_HUMAN	Q	592;615;322	ENSP00000372932:E592Q;ENSP00000262126:E615Q	ENSP00000262126:E615Q	E	+	1	0	ANKRD12	9245108	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	5.059000	0.64306	2.611000	0.88343	0.460000	0.39030	GAA		0.308	ANKRD12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254478.2	NM_015208		9	173	0	0	0	0.006214	0	9	173				
LDLRAD4	753	broad.mit.edu	37	18	13621256	13621256	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr18:13621256G>T	ENST00000359446.5	+	4	790	c.322G>T	c.(322-324)Gac>Tac	p.D108Y	LDLRAD4_ENST00000399848.3_Missense_Mutation_p.D108Y|LDLRAD4_ENST00000585931.1_Missense_Mutation_p.D31Y|LDLRAD4_ENST00000586765.1_Missense_Mutation_p.D71Y|LDLRAD4_ENST00000361205.4_Missense_Mutation_p.D108Y|LDLRAD4_ENST00000587757.1_Missense_Mutation_p.D71Y	NM_001276251.1	NP_001263180.1	O15165	LRAD4_HUMAN	low density lipoprotein receptor class A domain containing 4	108					negative regulation of cell migration (GO:0030336)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of SMAD protein complex assembly (GO:0010991)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)	early endosome membrane (GO:0031901)|endosome (GO:0005768)|integral component of membrane (GO:0016021)	R-SMAD binding (GO:0070412)										GAGGCGGGAGGACGGGCTGCC	0.647																																							uc002ksa.2		NA																	0				ovary(2)|skin(1)	3						c.(322-324)GAC>TAC		hypothetical protein LOC753 isoform alpha 1							44.0	42.0	43.0					18																	13621256		2203	4299	6502	SO:0001583	missense	753					integral to membrane|plasma membrane		g.chr18:13621256G>T	AF009424, AF009428	CCDS32793.1, CCDS32794.1, CCDS32795.1, CCDS42415.1, CCDS62392.1, CCDS62393.1	18p11.21	2014-04-29	2012-10-24	2012-10-24	ENSG00000168675	ENSG00000168675			1224	protein-coding gene	gene with protein product	"""clone 22"""	606571	"""chromosome 18 open reading frame 1"""	C18orf1		9479497, 9129712, 24627487	Standard	NM_181482		Approved		uc002ksb.3	O15165	OTTHUMG00000181925	ENST00000359446.5:c.322G>T	18.37:g.13621256G>T	ENSP00000352420:p.Asp108Tyr					C18orf1_uc002ksb.2_Missense_Mutation_p.D108Y|C18orf1_uc002kse.2_Missense_Mutation_p.D71Y|C18orf1_uc002ksf.2_Missense_Mutation_p.D71Y|C18orf1_uc002ksg.1_Missense_Mutation_p.D31Y|C18orf1_uc002ksh.1_Missense_Mutation_p.D50Y|C18orf1_uc002ksi.1_Missense_Mutation_p.D50Y	p.D108Y	NM_181481	NP_852146	O15165	CR001_HUMAN		READ - Rectum adenocarcinoma(73;0.0642)	5	990	+			108			Cytoplasmic (Potential).		B3KNT9|E9PAY9|K7EN38|O15166|O15167|O15168|Q5U646|Q6NXP3	Missense_Mutation	SNP	ENST00000359446.5	37	c.322G>T	CCDS32793.1	.	.	.	.	.	.	.	.	.	.	G	19.09	3.759544	0.69763	.	.	ENSG00000168675	ENST00000361205;ENST00000399848;ENST00000359446;ENST00000399847;ENST00000361303;ENST00000435606	T;T	0.27402	1.7;1.67	5.58	5.58	0.84498	.	0.275476	0.40144	N	0.001177	T	0.37571	0.1008	M	0.68952	2.095	0.44908	D	0.997921	P;P;P;P;P;P	0.46706	0.603;0.809;0.73;0.883;0.659;0.579	B;B;B;B;B;B	0.40038	0.116;0.317;0.178;0.317;0.248;0.169	T	0.40098	-0.9581	10	0.72032	D	0.01	1.3839	19.156	0.93510	0.0:0.0:1.0:0.0	.	50;50;71;71;108;108	O15165-4;O15165-3;E9PAY9;B3KNT9;O15165-2;O15165	.;.;.;.;.;CR001_HUMAN	Y	108;108;71;71;50;50	ENSP00000354753:D108Y;ENSP00000382741:D108Y	ENSP00000352420:D71Y	D	+	1	0	C18orf1	13611256	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	6.574000	0.74014	2.645000	0.89757	0.655000	0.94253	GAC		0.647	LDLRAD4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458326.1	NM_181481		28	117	1	0	2.46105e-21	0.002096	3.57295e-21	28	117				
POTEC	388468	broad.mit.edu	37	18	14513693	14513693	+	Missense_Mutation	SNP	T	T	G			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr18:14513693T>G	ENST00000358970.5	-	10	1500	c.1501A>C	c.(1501-1503)Ata>Cta	p.I501L		NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	501										NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						GCCACTTCTATCTGCTTTTGT	0.299																																							uc010dln.2		NA																	0				skin(3)	3						c.(1501-1503)ATA>CTA		ANKRD26-like family B, member 2							127.0	91.0	102.0					18																	14513693		692	1589	2281	SO:0001583	missense	388468							g.chr18:14513693T>G	BX649118	CCDS45835.1	18p11.21	2013-01-10	2008-11-26	2008-11-26	ENSG00000183206	ENSG00000183206		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33894	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 6"""		"""ANKRD26-like family B, member 2"""	A26B2			Standard	NM_001137671		Approved	POTE18, POTE-18, DKFZp686J0529, CT104.6	uc010dln.3	B2RU33	OTTHUMG00000162963	ENST00000358970.5:c.1501A>C	18.37:g.14513693T>G	ENSP00000351856:p.Ile501Leu					POTEC_uc010xaj.1_RNA	p.I501L	NM_001137671	NP_001131143	B2RU33	POTEC_HUMAN			10	1955	-			501			Potential.			Missense_Mutation	SNP	ENST00000358970.5	37	c.1501A>C	CCDS45835.1	.	.	.	.	.	.	.	.	.	.	T	0.163	-1.079376	0.01903	.	.	ENSG00000183206	ENST00000358970	T	0.32023	1.47	1.53	-2.0	0.07433	.	.	.	.	.	T	0.16642	0.0400	L	0.38175	1.15	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.32534	-0.9903	9	0.15499	T	0.54	.	2.1415	0.03776	0.2922:0.0:0.2959:0.412	.	501	B2RU33	POTEC_HUMAN	L	501	ENSP00000351856:I501L	ENSP00000351856:I501L	I	-	1	0	POTEC	14503693	0.888000	0.30383	0.001000	0.08648	0.017000	0.09413	0.060000	0.14342	-0.474000	0.06862	0.172000	0.16884	ATA		0.299	POTEC-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371179.1	XM_496269		16	133	0	0	0	0.008871	0	16	133				
LAMA3	3909	broad.mit.edu	37	18	21343483	21343483	+	Missense_Mutation	SNP	G	G	C			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr18:21343483G>C	ENST00000313654.9	+	8	1419	c.1178G>C	c.(1177-1179)tGt>tCt	p.C393S	LAMA3_ENST00000399516.3_Missense_Mutation_p.C393S	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	393	Domain V.|Laminin EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00460}.				cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)					TGCATTAACTGTCAGGTGAGG	0.488																																							uc002kuq.2		NA																	0				ovary(8)|skin(2)|central_nervous_system(1)	11						c.(1177-1179)TGT>TCT		laminin alpha 3 subunit isoform 1	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						124.0	126.0	125.0					18																	21343483		2002	4189	6191	SO:0001583	missense	3909				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr18:21343483G>C	L34155	CCDS11880.1, CCDS42419.1, CCDS45838.1, CCDS59307.1	18q11.2	2013-03-01	2002-08-29		ENSG00000053747	ENSG00000053747		"""Laminins"""	6483	protein-coding gene	gene with protein product		600805	"""laminin, alpha 3 (nicein (150kD), kalinin (165kD), BM600 (150kD), epilegrin)"""	LAMNA		8077230	Standard	NM_000227		Approved	nicein-150kDa, kalinin-165kDa, BM600-150kDa, epiligrin	uc002kuq.3	Q16787	OTTHUMG00000131874	ENST00000313654.9:c.1178G>C	18.37:g.21343483G>C	ENSP00000324532:p.Cys393Ser					LAMA3_uc010dlv.1_Missense_Mutation_p.C393S|LAMA3_uc002kur.2_Missense_Mutation_p.C393S	p.C393S	NM_198129	NP_937762	Q16787	LAMA3_HUMAN			8	1264	+	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)		393			Domain V.|Laminin EGF-like 2.		B0YJ33|Q13679|Q13680|Q6VU67|Q6VU68|Q6VU69|Q76E14|Q96TG0	Missense_Mutation	SNP	ENST00000313654.9	37	c.1178G>C	CCDS42419.1	.	.	.	.	.	.	.	.	.	.	G	26.8	4.768359	0.90020	.	.	ENSG00000053747	ENST00000313654;ENST00000399516;ENST00000416669;ENST00000538801	D;D	0.95171	-3.63;-3.63	6.03	6.03	0.97812	EGF-like, laminin (4);	.	.	.	.	D	0.98773	0.9587	H	0.99379	4.54	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.999	D	0.99187	1.0869	9	0.87932	D	0	.	19.3381	0.94329	0.0:0.0:1.0:0.0	.	393;393;393	F5H8G3;Q6VU67;Q16787	.;.;LAMA3_HUMAN	S	393;393;391;393	ENSP00000324532:C393S;ENSP00000382432:C393S	ENSP00000324532:C393S	C	+	2	0	LAMA3	19597481	1.000000	0.71417	0.964000	0.40570	0.947000	0.59692	8.668000	0.91158	2.854000	0.98071	0.655000	0.94253	TGT		0.488	LAMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254824.3	NM_000227, NM_198129		21	155	0	0	0	0.004656	0	21	155				
MEP1B	4225	broad.mit.edu	37	18	29795168	29795168	+	Missense_Mutation	SNP	T	T	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr18:29795168T>A	ENST00000269202.6	+	12	1750	c.1703T>A	c.(1702-1704)cTg>cAg	p.L568Q	MEP1B_ENST00000581447.1_Missense_Mutation_p.L568Q	NM_005925.2	NP_005916.2	Q16820	MEP1B_HUMAN	meprin A, beta	568	MATH. {ECO:0000255|PROSITE- ProRule:PRU00129}.				digestion (GO:0007586)|inflammatory response (GO:0006954)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						CACGAAAGGCTGAAAAGCAGA	0.368																																							uc002kxj.3		NA																	0				ovary(2)	2						c.(1702-1704)CTG>CAG		meprin A beta precursor							81.0	81.0	81.0					18																	29795168		1837	4084	5921	SO:0001583	missense	4225				digestion|proteolysis	extracellular space|integral to plasma membrane	metalloendopeptidase activity|zinc ion binding	g.chr18:29795168T>A	X81333	CCDS45846.1	18q12.2-q12.3	2003-12-17				ENSG00000141434	3.4.24.18		7020	protein-coding gene	gene with protein product		600389				7774936	Standard	NM_005925		Approved		uc002kxj.4	Q16820		ENST00000269202.6:c.1703T>A	18.37:g.29795168T>A	ENSP00000269202:p.Leu568Gln						p.L568Q	NM_005925	NP_005916	Q16820	MEP1B_HUMAN			12	1750	+			568			Extracellular (Potential).|MATH.		B7ZM35|B9EGL6|Q670J1	Missense_Mutation	SNP	ENST00000269202.6	37	c.1703T>A	CCDS45846.1	.	.	.	.	.	.	.	.	.	.	T	16.52	3.145572	0.57044	.	.	ENSG00000141434	ENST00000269202	T	0.58358	0.34	5.97	5.97	0.96955	TRAF-type (1);TRAF-like (1);MATH (3);	0.195954	0.45361	D	0.000370	T	0.76681	0.4021	M	0.88842	2.985	0.36846	D	0.887635	D	0.61080	0.989	D	0.67231	0.95	D	0.84506	0.0619	10	0.87932	D	0	-7.1795	16.43	0.83839	0.0:0.0:0.0:1.0	.	568	Q16820	MEP1B_HUMAN	Q	568	ENSP00000269202:L568Q	ENSP00000269202:L568Q	L	+	2	0	MEP1B	28049166	1.000000	0.71417	0.485000	0.27403	0.540000	0.34992	4.659000	0.61504	2.283000	0.76528	0.533000	0.62120	CTG		0.368	MEP1B-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447755.1	NM_005925		9	20	0	0	0	0.001855	0	9	20				
DTNA	1837	broad.mit.edu	37	18	32405235	32405235	+	Missense_Mutation	SNP	A	A	G			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr18:32405235A>G	ENST00000399113.3	+	9	1006	c.1006A>G	c.(1006-1008)Act>Gct	p.T336A	DTNA_ENST00000601125.1_Intron|DTNA_ENST00000444659.1_Missense_Mutation_p.T336A|DTNA_ENST00000399097.3_Intron|DTNA_ENST00000315456.6_Missense_Mutation_p.T336A|DTNA_ENST00000269192.7_Intron|DTNA_ENST00000596745.1_Intron|DTNA_ENST00000283365.9_Missense_Mutation_p.T336A|DTNA_ENST00000598334.1_Intron|DTNA_ENST00000598142.1_Missense_Mutation_p.T336A|DTNA_ENST00000269190.7_Intron|DTNA_ENST00000595022.1_Intron|DTNA_ENST00000399121.5_Intron|DTNA_ENST00000598774.1_Missense_Mutation_p.T336A|DTNA_ENST00000597674.1_Intron|DTNA_ENST00000269191.6_Missense_Mutation_p.T336A|DTNA_ENST00000348997.5_Intron|DTNA_ENST00000597599.1_Intron|DTNA_ENST00000591182.1_Intron|DTNA_ENST00000599844.1_Intron|DTNA_ENST00000554864.3_Intron|DTNA_ENST00000556414.3_Intron			Q9Y4J8	DTNA_HUMAN	dystrobrevin, alpha	336					neuromuscular synaptic transmission (GO:0007274)|signal transduction (GO:0007165)|striated muscle contraction (GO:0006941)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(2)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	29						CAAAAGTGATACTTGGTAAGT	0.348																																							uc010dmn.1		NA																	0					0						c.(1006-1008)ACT>GCT		dystrobrevin alpha isoform 1							221.0	202.0	208.0					18																	32405235		1866	4110	5976	SO:0001583	missense	1837				neuromuscular synaptic transmission|signal transduction|striated muscle contraction	cell junction|cytoplasm|synapse	calcium ion binding|protein binding|zinc ion binding	g.chr18:32405235A>G	U84540	CCDS11908.1, CCDS11909.1, CCDS42426.1, CCDS45848.1, CCDS56060.1, CCDS56061.1, CCDS56062.1, CCDS56063.1, CCDS59309.1, CCDS59310.1, CCDS59311.1, CCDS59312.1, CCDS59313.1, CCDS59314.1	18q12	2014-09-17			ENSG00000134769	ENSG00000134769			3057	protein-coding gene	gene with protein product	"""dystrophin-related protein 3"""	601239				8081380, 15834686	Standard	NM_001390		Approved	D18S892E, DTN, DTN-1, DTN-2, DTN-3, DRP3	uc010dmn.1	Q9Y4J8	OTTHUMG00000132309	ENST00000399113.3:c.1006A>G	18.37:g.32405235A>G	ENSP00000382064:p.Thr336Ala					DTNA_uc002kxu.2_Missense_Mutation_p.T336A|DTNA_uc010xbx.1_Intron|DTNA_uc002kxv.3_Missense_Mutation_p.T336A|DTNA_uc002kxw.2_Missense_Mutation_p.T336A|DTNA_uc002kxx.2_Intron|DTNA_uc010dmj.2_Intron|DTNA_uc002kxz.2_Intron|DTNA_uc002kxy.2_Intron|DTNA_uc010dmk.1_Intron|DTNA_uc010dml.2_Intron|DTNA_uc002kyb.3_Intron|DTNA_uc010dmm.2_Missense_Mutation_p.T336A|DTNA_uc010xby.1_Intron|DTNA_uc010dmo.2_Intron|DTNA_uc002kyd.3_Intron|DTNA_uc010xbz.1_Intron|DTNA_uc010xca.1_Intron|DTNA_uc002kye.2_Intron	p.T336A	NM_001390	NP_001381	Q9Y4J8	DTNA_HUMAN			9	1007	+			336					A8K541|A8MSZ0|A8MUY4|B4DGS6|B4DIR0|B4DIU8|M0QYX6|M0R397|O15332|O15333|O75697|Q13197|Q13198|Q13199|Q13498|Q13499|Q13500|Q59GK7|Q9BS59	Missense_Mutation	SNP	ENST00000399113.3	37	c.1006A>G	CCDS59311.1	.	.	.	.	.	.	.	.	.	.	A	11.64	1.697746	0.30142	.	.	ENSG00000134769	ENST00000283365;ENST00000315456;ENST00000444659;ENST00000269191;ENST00000399113	T;T;T;T;T	0.16897	2.31;2.36;2.34;2.34;2.34	5.52	5.52	0.82312	.	.	.	.	.	T	0.15522	0.0374	N	0.22421	0.69	0.80722	D	1	B;B;B;P;P	0.37398	0.002;0.013;0.047;0.593;0.593	B;B;B;B;B	0.42462	0.01;0.037;0.062;0.388;0.388	T	0.07271	-1.0781	9	0.37606	T	0.19	.	12.3128	0.54938	1.0:0.0:0.0:0.0	.	336;336;336;336;336	Q9Y4J8;Q9Y4J8-3;Q9Y4J8-2;Q9Y4J8-5;Q9Y4J8-7	DTNA_HUMAN;.;.;.;.	A	336	ENSP00000283365:T336A;ENSP00000322519:T336A;ENSP00000405819:T336A;ENSP00000269191:T336A;ENSP00000382064:T336A	ENSP00000269191:T336A	T	+	1	0	DTNA	30659233	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.899000	0.63245	2.216000	0.71823	0.528000	0.53228	ACT		0.348	DTNA-005	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255422.2	NM_001390		20	159	0	0	0	0.005443	0	20	159				
SETBP1	26040	broad.mit.edu	37	18	42530331	42530331	+	Silent	SNP	G	G	C			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr18:42530331G>C	ENST00000282030.5	+	4	1322	c.1026G>C	c.(1024-1026)gtG>gtC	p.V342V		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	342						nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		AAAAAGATGTGATAAGTCAGA	0.483									Schinzel-Giedion syndrome																														uc010dni.2		NA																	0				upper_aerodigestive_tract(2)|large_intestine(1)	3						c.(1024-1026)GTG>GTC		SET binding protein 1 isoform a							79.0	81.0	80.0					18																	42530331		2202	4300	6502	SO:0001819	synonymous_variant	26040	Schinzel-Giedion_syndrome	Familial Cancer Database	SGC, Schinzel-Giedion Midface Retraction syndrome		nucleus	DNA binding	g.chr18:42530331G>C	AB022660	CCDS11923.2, CCDS45859.1	18q21.1	2008-08-01			ENSG00000152217	ENSG00000152217			15573	protein-coding gene	gene with protein product		611060				11231286	Standard	NM_015559		Approved	SEB, KIAA0437	uc010dni.3	Q9Y6X0	OTTHUMG00000132613	ENST00000282030.5:c.1026G>C	18.37:g.42530331G>C							p.V342V	NM_015559	NP_056374	Q9Y6X0	SETBP_HUMAN		Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)	4	1322	+			342					A6H8W5|Q6P6C3|Q9UEF3	Silent	SNP	ENST00000282030.5	37	c.1026G>C	CCDS11923.2																																																																																				0.483	SETBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255854.4	NM_001130110		18	71	0	0	0	0.007413	0	18	71				
SIGLEC15	284266	broad.mit.edu	37	18	43420203	43420203	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr18:43420203C>A	ENST00000389474.3	+	5	1119	c.902C>A	c.(901-903)cCa>cAa	p.P301Q	SIGLEC15_ENST00000587418.1_Missense_Mutation_p.H71N|SIGLEC15_ENST00000602118.2_3'UTR|SIGLEC15_ENST00000546268.1_Missense_Mutation_p.P147Q	NM_213602.2	NP_998767.1	Q6ZMC9	SIG15_HUMAN	sialic acid binding Ig-like lectin 15	301					cellular response to lipoprotein particle stimulus (GO:0071402)|innate immune response (GO:0045087)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of bone resorption (GO:0045124)|regulation of osteoclast development (GO:2001204)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|protein complex (GO:0043234)				endometrium(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	4						GACACCCCACCACGGTAAGTG	0.637																																							uc002lbl.1		NA																	0					0						c.(901-903)CCA>CAA		sialic acid binding Ig-like lectin 15 precursor							126.0	99.0	108.0					18																	43420203		2203	4300	6503	SO:0001583	missense	284266					integral to membrane		g.chr18:43420203C>A	AK095432	CCDS32819.1	18q21.1	2014-01-28	2007-05-31	2007-05-31	ENSG00000197046	ENSG00000197046		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	27596	protein-coding gene	gene with protein product			"""CD33 antigen-like 3"", ""CD33 molecule-like 3"""	CD33L3		17483134	Standard	NM_213602		Approved	HsT1361	uc002lbl.1	Q6ZMC9		ENST00000389474.3:c.902C>A	18.37:g.43420203C>A	ENSP00000374125:p.Pro301Gln					SIGLEC15_uc010xcp.1_RNA	p.P301Q	NM_213602	NP_998767	Q6ZMC9	SIG15_HUMAN			5	1051	+			301			Cytoplasmic (Potential).		A8K2Y5|B4DVQ9	Missense_Mutation	SNP	ENST00000389474.3	37	c.902C>A	CCDS32819.1	.	.	.	.	.	.	.	.	.	.	C	14.01	2.406501	0.42715	.	.	ENSG00000197046	ENST00000389474;ENST00000546268	T;T	0.72282	1.52;-0.64	3.92	3.03	0.35002	.	0.287190	0.24195	N	0.040678	T	0.69682	0.3138	M	0.65975	2.015	0.09310	N	1	P	0.52316	0.952	P	0.46585	0.521	T	0.64317	-0.6436	10	0.87932	D	0	-3.2138	8.9773	0.35944	0.2208:0.7792:0.0:0.0	.	301	Q6ZMC9	SIG15_HUMAN	Q	301;147	ENSP00000374125:P301Q;ENSP00000443509:P147Q	ENSP00000374125:P301Q	P	+	2	0	SIGLEC15	41674201	0.004000	0.15560	0.015000	0.15790	0.062000	0.15995	1.118000	0.31246	1.207000	0.43291	-0.324000	0.08512	CCA		0.637	SIGLEC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410768.2	NM_213602		10	128	1	0	5.50884e-06	0.001368	6.17602e-06	10	128				
ALPK2	115701	broad.mit.edu	37	18	56203946	56203946	+	Missense_Mutation	SNP	G	G	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr18:56203946G>A	ENST00000361673.3	-	5	3686	c.3473C>T	c.(3472-3474)cCt>cTt	p.P1158L	RP11-1151B14.4_ENST00000591360.1_RNA	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	1158						nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						AGATGTCGTAGGCAAACTTTG	0.552																																							uc002lhj.3		NA																	0				ovary(7)|skin(5)|lung(1)|central_nervous_system(1)	14						c.(3472-3474)CCT>CTT		heart alpha-kinase							97.0	93.0	95.0					18																	56203946		2203	4300	6503	SO:0001583	missense	115701						ATP binding|protein serine/threonine kinase activity	g.chr18:56203946G>A	AY044450	CCDS11966.2	18q21.31	2013-01-11			ENSG00000198796	ENSG00000198796		"""Immunoglobulin superfamily / I-set domain containing"""	20565	protein-coding gene	gene with protein product	"""heart alpha-kinase"""					10021370	Standard	NM_052947		Approved	HAK	uc002lhj.4	Q86TB3	OTTHUMG00000132755	ENST00000361673.3:c.3473C>T	18.37:g.56203946G>A	ENSP00000354991:p.Pro1158Leu					ALPK2_uc002lhk.1_Missense_Mutation_p.P489L	p.P1158L	NM_052947	NP_443179	Q86TB3	ALPK2_HUMAN			5	3687	-			1158					Q6ZUX0|Q8NAT5|Q96L95	Missense_Mutation	SNP	ENST00000361673.3	37	c.3473C>T	CCDS11966.2	.	.	.	.	.	.	.	.	.	.	G	13.73	2.325619	0.41197	.	.	ENSG00000198796	ENST00000361673	T	0.48201	0.82	5.24	1.14	0.20703	.	0.830887	0.10808	N	0.631869	T	0.33876	0.0878	L	0.46157	1.445	0.09310	N	1	P;B	0.36587	0.559;0.137	B;B	0.34346	0.18;0.049	T	0.38308	-0.9667	10	0.72032	D	0.01	-9.6462	1.1971	0.01877	0.2002:0.1613:0.4503:0.1882	.	1153;1158	Q86TB3-2;Q86TB3	.;ALPK2_HUMAN	L	1158	ENSP00000354991:P1158L	ENSP00000354991:P1158L	P	-	2	0	ALPK2	54354926	0.104000	0.21937	0.198000	0.23420	0.005000	0.04900	1.059000	0.30517	0.609000	0.30018	-0.192000	0.12808	CCT		0.552	ALPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256126.1	NM_052947		17	71	0	0	0	0.002299	0	17	71				
ALPK2	115701	broad.mit.edu	37	18	56247148	56247148	+	Missense_Mutation	SNP	T	T	C			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr18:56247148T>C	ENST00000361673.3	-	4	1073	c.860A>G	c.(859-861)gAc>gGc	p.D287G	ALPK2_ENST00000587399.1_5'Flank	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	287						nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						CACGGCACTGTCACCTGGGTA	0.493											OREG0025011	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc002lhj.3		NA																	0				ovary(7)|skin(5)|lung(1)|central_nervous_system(1)	14						c.(859-861)GAC>GGC		heart alpha-kinase							92.0	87.0	89.0					18																	56247148		2203	4300	6503	SO:0001583	missense	115701						ATP binding|protein serine/threonine kinase activity	g.chr18:56247148T>C	AY044450	CCDS11966.2	18q21.31	2013-01-11			ENSG00000198796	ENSG00000198796		"""Immunoglobulin superfamily / I-set domain containing"""	20565	protein-coding gene	gene with protein product	"""heart alpha-kinase"""					10021370	Standard	NM_052947		Approved	HAK	uc002lhj.4	Q86TB3	OTTHUMG00000132755	ENST00000361673.3:c.860A>G	18.37:g.56247148T>C	ENSP00000354991:p.Asp287Gly		OREG0025011	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1014		p.D287G	NM_052947	NP_443179	Q86TB3	ALPK2_HUMAN			4	1074	-			287					Q6ZUX0|Q8NAT5|Q96L95	Missense_Mutation	SNP	ENST00000361673.3	37	c.860A>G	CCDS11966.2	.	.	.	.	.	.	.	.	.	.	T	12.90	2.076685	0.36662	.	.	ENSG00000198796	ENST00000361673	T	0.51817	0.69	5.89	-1.05	0.10036	.	1.559630	0.04286	N	0.344651	T	0.44519	0.1297	L	0.50333	1.59	0.09310	N	1	B	0.15473	0.013	B	0.12156	0.007	T	0.46190	-0.9209	10	0.66056	D	0.02	-0.0439	10.1819	0.42972	0.0:0.0677:0.5511:0.3812	.	287	Q86TB3	ALPK2_HUMAN	G	287	ENSP00000354991:D287G	ENSP00000354991:D287G	D	-	2	0	ALPK2	54398128	0.000000	0.05858	0.000000	0.03702	0.142000	0.21351	0.061000	0.14366	-0.390000	0.07774	-0.376000	0.06991	GAC		0.493	ALPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256126.1	NM_052947		12	43	0	0	0	0.001368	0	12	43				
SERPINB7	8710	broad.mit.edu	37	18	61449703	61449703	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr18:61449703C>A	ENST00000398019.2	+	2	422	c.97C>A	c.(97-99)Ctg>Atg	p.L33M	SERPINB7_ENST00000336429.2_Missense_Mutation_p.L33M|SERPINB7_ENST00000540675.1_Missense_Mutation_p.L33M|SERPINB7_ENST00000546027.1_Missense_Mutation_p.L33M	NM_003784.3	NP_003775.1	O75635	SPB7_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 7	33					negative regulation of endopeptidase activity (GO:0010951)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of glomerular mesangial cell proliferation (GO:0072126)|positive regulation of platelet-derived growth factor production (GO:0090362)|positive regulation of transforming growth factor beta1 production (GO:0032914)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	27		Esophageal squamous(42;0.129)				CTTTTCCTCTCTGAGCCTCTT	0.493																																							uc002ljl.2		NA																	0				lung(2)|central_nervous_system(1)	3						c.(97-99)CTG>ATG		serine (or cysteine) proteinase inhibitor, clade							124.0	100.0	108.0					18																	61449703		2203	4300	6503	SO:0001583	missense	8710				regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity	g.chr18:61449703C>A	AF027866	CCDS11988.1, CCDS58633.1	18q21.33	2014-02-18	2005-08-18		ENSG00000166396	ENSG00000166396		"""Serine (or cysteine) peptidase inhibitors"""	13902	protein-coding gene	gene with protein product		603357	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 7"""			24172014	Standard	NM_003784		Approved	MEGSIN	uc002ljl.4	O75635	OTTHUMG00000060591	ENST00000398019.2:c.97C>A	18.37:g.61449703C>A	ENSP00000381101:p.Leu33Met					SERPINB7_uc002ljm.2_Missense_Mutation_p.L33M|SERPINB7_uc010xet.1_Missense_Mutation_p.L33M|SERPINB7_uc010dqg.2_Missense_Mutation_p.L33M	p.L33M	NM_001040147	NP_001035237	O75635	SPB7_HUMAN			2	193	+		Esophageal squamous(42;0.129)	33					B4DUW8|F5GZC0|Q1ED45|Q3KPG4	Missense_Mutation	SNP	ENST00000398019.2	37	c.97C>A	CCDS11988.1	.	.	.	.	.	.	.	.	.	.	C	17.73	3.461021	0.63513	.	.	ENSG00000166396	ENST00000425392;ENST00000336429;ENST00000398019;ENST00000540675;ENST00000447428;ENST00000546027;ENST00000431370	D;D;D;D;D;D;D	0.86230	-2.09;-2.09;-2.09;-2.09;-2.09;-2.09;-2.09	5.88	4.09	0.47781	Serpin domain (3);	0.000000	0.40908	D	0.000981	D	0.91825	0.7413	M	0.76433	2.335	0.30329	N	0.78683	D;D	0.89917	1.0;1.0	D;D	0.87578	0.992;0.998	D	0.88101	0.2819	10	0.36615	T	0.2	.	10.7938	0.46449	0.0:0.8452:0.0:0.1548	.	33;33	F5GZC0;O75635	.;SPB7_HUMAN	M	33	ENSP00000397301:L33M;ENSP00000337212:L33M;ENSP00000381101:L33M;ENSP00000444572:L33M;ENSP00000402362:L33M;ENSP00000444861:L33M;ENSP00000393947:L33M	ENSP00000337212:L33M	L	+	1	2	SERPINB7	59600683	0.035000	0.19736	1.000000	0.80357	0.913000	0.54294	0.269000	0.18589	0.819000	0.34492	0.491000	0.48974	CTG		0.493	SERPINB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134007.1	NM_003784		29	46	1	0	9.45814e-24	0.004878	1.39931e-23	29	46				
CDH7	1005	broad.mit.edu	37	18	63481777	63481777	+	Missense_Mutation	SNP	A	A	G			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr18:63481777A>G	ENST00000397968.2	+	4	988	c.562A>G	c.(562-564)Agt>Ggt	p.S188G	CDH7_ENST00000536984.2_Missense_Mutation_p.S188G|CDH7_ENST00000323011.3_Missense_Mutation_p.S188G	NM_004361.2	NP_004352.2	Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	188	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				ATATGGCAACAGTGCCAGAGT	0.433																																							uc002ljz.2		NA																	0				ovary(2)|pancreas(1)|skin(1)	4						c.(562-564)AGT>GGT		cadherin 7, type 2 preproprotein							182.0	163.0	169.0					18																	63481777		2203	4300	6503	SO:0001583	missense	1005				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr18:63481777A>G	AB035301	CCDS11993.1	18q22.1	2010-01-26			ENSG00000081138	ENSG00000081138		"""Cadherins / Major cadherins"""	1766	protein-coding gene	gene with protein product		605806				9615235	Standard	NM_033646		Approved		uc002ljz.3	Q9ULB5	OTTHUMG00000132800	ENST00000397968.2:c.562A>G	18.37:g.63481777A>G	ENSP00000381058:p.Ser188Gly					CDH7_uc002lka.2_Missense_Mutation_p.S188G|CDH7_uc002lkb.2_Missense_Mutation_p.S188G	p.S188G	NM_033646	NP_387450	Q9ULB5	CADH7_HUMAN			4	887	+		Esophageal squamous(42;0.129)	188			Extracellular (Potential).|Cadherin 2.		Q9H157	Missense_Mutation	SNP	ENST00000397968.2	37	c.562A>G	CCDS11993.1	.	.	.	.	.	.	.	.	.	.	A	28.8	4.949890	0.92660	.	.	ENSG00000081138	ENST00000323011;ENST00000536984;ENST00000397966;ENST00000397968	T;T;T	0.51325	0.71;0.71;0.71	5.75	5.75	0.90469	Cadherin (4);Cadherin-like (1);	0.248990	0.42420	D	0.000713	T	0.58366	0.2117	L	0.29908	0.895	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.76071	0.983;0.987	T	0.62158	-0.6913	10	0.72032	D	0.01	.	16.0591	0.80826	1.0:0.0:0.0:0.0	.	188;188	F5H5X9;Q9ULB5	.;CADH7_HUMAN	G	188	ENSP00000319166:S188G;ENSP00000443030:S188G;ENSP00000381058:S188G	ENSP00000319166:S188G	S	+	1	0	CDH7	61632757	1.000000	0.71417	0.998000	0.56505	0.976000	0.68499	8.820000	0.92003	2.190000	0.69967	0.482000	0.46254	AGT		0.433	CDH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256217.2	NM_033646		43	78	0	0	0	0.00361	0	43	78				
CDH7	1005	broad.mit.edu	37	18	63548025	63548025	+	Missense_Mutation	SNP	C	C	G			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr18:63548025C>G	ENST00000397968.2	+	12	2679	c.2253C>G	c.(2251-2253)atC>atG	p.I751M	CDH7_ENST00000323011.3_Missense_Mutation_p.I751M	NM_004361.2	NP_004352.2	Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	751					adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				TAGATTCCATCAGCTCAAACT	0.473																																							uc002ljz.2		NA																	0				ovary(2)|pancreas(1)|skin(1)	4						c.(2251-2253)ATC>ATG		cadherin 7, type 2 preproprotein							90.0	93.0	92.0					18																	63548025		2203	4300	6503	SO:0001583	missense	1005				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr18:63548025C>G	AB035301	CCDS11993.1	18q22.1	2010-01-26			ENSG00000081138	ENSG00000081138		"""Cadherins / Major cadherins"""	1766	protein-coding gene	gene with protein product		605806				9615235	Standard	NM_033646		Approved		uc002ljz.3	Q9ULB5	OTTHUMG00000132800	ENST00000397968.2:c.2253C>G	18.37:g.63548025C>G	ENSP00000381058:p.Ile751Met					CDH7_uc002lkb.2_Missense_Mutation_p.I751M	p.I751M	NM_033646	NP_387450	Q9ULB5	CADH7_HUMAN			12	2578	+		Esophageal squamous(42;0.129)	751			Cytoplasmic (Potential).		Q9H157	Missense_Mutation	SNP	ENST00000397968.2	37	c.2253C>G	CCDS11993.1	.	.	.	.	.	.	.	.	.	.	C	14.22	2.471840	0.43942	.	.	ENSG00000081138	ENST00000323011;ENST00000397966;ENST00000397968	T;T	0.76578	-1.03;-1.03	5.33	5.33	0.75918	Cadherin, cytoplasmic domain (1);	0.843225	0.10763	N	0.636846	T	0.74215	0.3687	L	0.38175	1.15	0.39935	D	0.974337	B	0.24721	0.11	B	0.30646	0.118	T	0.68496	-0.5393	10	0.52906	T	0.07	.	15.4888	0.75587	0.1388:0.8612:0.0:0.0	.	751	Q9ULB5	CADH7_HUMAN	M	751	ENSP00000319166:I751M;ENSP00000381058:I751M	ENSP00000319166:I751M	I	+	3	3	CDH7	61699005	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.116000	0.50399	2.510000	0.84645	0.650000	0.86243	ATC		0.473	CDH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256217.2	NM_033646		9	97	0	0	0	0.008291	0	9	97				
CD226	10666	broad.mit.edu	37	18	67563206	67563206	+	Missense_Mutation	SNP	T	T	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr18:67563206T>A	ENST00000280200.4	-	4	726	c.458A>T	c.(457-459)cAg>cTg	p.Q153L	CD226_ENST00000582621.1_Missense_Mutation_p.Q153L|CD226_ENST00000577287.1_5'UTR|CD226_ENST00000581982.1_5'UTR	NM_006566.2	NP_006557.2	Q15762	CD226_HUMAN	CD226 molecule	153	Ig-like C2-type 2.				cell adhesion (GO:0007155)|cell recognition (GO:0008037)|cytokine production (GO:0001816)|positive regulation of Fc receptor mediated stimulatory signaling pathway (GO:0060369)|positive regulation of immunoglobulin mediated immune response (GO:0002891)|positive regulation of mast cell activation (GO:0033005)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target (GO:0002860)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|integrin binding (GO:0005178)|protein kinase binding (GO:0019901)			breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(14)|prostate(1)|urinary_tract(1)	24		Esophageal squamous(42;0.129)				CATCTGAGGCTGACAAGTGAG	0.473																																					NSCLC(184;838 2130 8673 21498 50749)	NSCLC(184;838 2130 8673 21498 50749)	uc010dqo.2		NA																	0					0						c.(457-459)CAG>CTG		CD226 molecule precursor							102.0	86.0	92.0					18																	67563206		2203	4300	6503	SO:0001583	missense	10666				cell adhesion|cell recognition|positive regulation of Fc receptor mediated stimulatory signaling pathway|positive regulation of immunoglobulin mediated immune response|positive regulation of mast cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target	cell surface|integral to plasma membrane|membrane raft	cell adhesion molecule binding|integrin binding|protein kinase binding|receptor activity	g.chr18:67563206T>A	U56102	CCDS11997.1	18q22.3	2013-01-11	2006-03-28		ENSG00000150637	ENSG00000150637		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	16961	protein-coding gene	gene with protein product		605397	"""CD226 antigen"""			8673704	Standard	NM_006566		Approved	DNAM-1, DNAM1, PTA1, TLiSA1	uc002lkm.4	Q15762	OTTHUMG00000132809	ENST00000280200.4:c.458A>T	18.37:g.67563206T>A	ENSP00000280200:p.Gln153Leu					CD226_uc002lkm.3_Missense_Mutation_p.Q153L	p.Q153L	NM_006566	NP_006557	Q15762	CD226_HUMAN			3	905	-		Esophageal squamous(42;0.129)	153			Ig-like C2-type 2.|Extracellular (Potential).		B2R818	Missense_Mutation	SNP	ENST00000280200.4	37	c.458A>T	CCDS11997.1	.	.	.	.	.	.	.	.	.	.	T	14.03	2.413515	0.42817	.	.	ENSG00000150637	ENST00000280200	T	0.13778	2.56	5.09	3.89	0.44902	Immunoglobulin V-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.584501	0.18526	N	0.138635	T	0.15089	0.0364	M	0.64997	1.995	0.09310	N	1	P	0.40515	0.719	B	0.39258	0.295	T	0.10941	-1.0608	10	0.42905	T	0.14	.	8.1114	0.30917	0.1793:0.0:0.0:0.8207	.	153	Q15762	CD226_HUMAN	L	153	ENSP00000280200:Q153L	ENSP00000280200:Q153L	Q	-	2	0	CD226	65714186	0.001000	0.12720	0.016000	0.15963	0.041000	0.13682	0.770000	0.26618	1.025000	0.39708	0.528000	0.53228	CAG		0.473	CD226-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256226.3	NM_006566		29	29	0	0	0	0.003755	0	29	29				
FBXO15	201456	broad.mit.edu	37	18	71796717	71796717	+	Silent	SNP	T	T	C			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr18:71796717T>C	ENST00000419743.2	-	5	787	c.708A>G	c.(706-708)ctA>ctG	p.L236L	FBXO15_ENST00000269500.5_Silent_p.L160L	NM_001142958.1	NP_001136430.1	Q8NCQ5	FBX15_HUMAN	F-box protein 15	236						SCF ubiquitin ligase complex (GO:0019005)				autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)	27		Esophageal squamous(42;0.103)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.143)		ACAATGATGCTAGGCATGGCC	0.378																																							uc002lle.2		NA																	0				ovary(2)|pancreas(1)	3						c.(478-480)CTA>CTG		F-box protein 15 isoform 1							142.0	120.0	127.0					18																	71796717		2203	4300	6503	SO:0001819	synonymous_variant	201456							g.chr18:71796717T>C	AK094215	CCDS45884.1	18q22.3	2006-03-09	2004-06-15		ENSG00000141665	ENSG00000141665		"""F-boxes /  ""other"""""	13617	protein-coding gene	gene with protein product		609093	"""F-box only protein 15"""			12665572	Standard	NM_152676		Approved	MGC39671, FBX15	uc002llf.2	Q8NCQ5	OTTHUMG00000132842	ENST00000419743.2:c.708A>G	18.37:g.71796717T>C						FBXO15_uc002llf.2_Silent_p.L236L	p.L160L	NM_152676	NP_689889	Q8NCQ5	FBX15_HUMAN		BRCA - Breast invasive adenocarcinoma(31;0.143)	5	816	-		Esophageal squamous(42;0.103)|Prostate(75;0.173)	160					B3KST3	Silent	SNP	ENST00000419743.2	37	c.480A>G	CCDS45884.1																																																																																				0.378	FBXO15-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000444223.1	NM_152676		11	33	0	0	0	0.001368	0	11	33				
TSHZ1	10194	broad.mit.edu	37	18	72999519	72999519	+	Silent	SNP	C	C	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr18:72999519C>T	ENST00000580243.1	+	2	2505	c.2157C>T	c.(2155-2157)ctC>ctT	p.L719L	TSHZ1_ENST00000322038.5_Silent_p.L674L			Q6ZSZ6	TSH1_HUMAN	teashirt zinc finger homeobox 1	719					anterior/posterior pattern specification (GO:0009952)|middle ear morphogenesis (GO:0042474)|regulation of transcription, DNA-templated (GO:0006355)|soft palate development (GO:0060023)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2)	42		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)		CAGAGCCTCTCAAAGCAAAGG	0.572																																							uc002lly.2		NA																	0					0						c.(2020-2022)CTC>CTT		teashirt family zinc finger 1							121.0	101.0	108.0					18																	72999519		2203	4300	6503	SO:0001819	synonymous_variant	10194					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr18:72999519C>T	AF039698	CCDS12009.1	18q22.3	2013-11-20	2007-07-16	2006-03-14	ENSG00000179981	ENSG00000179981		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	10669	protein-coding gene	gene with protein product		614427	"""serologically defined colon cancer antigen 33"", ""teashirt zinc finger 1"", ""teashirt family zinc finger 1"""	SDCCAG33		17586487	Standard	NM_005786		Approved	NY-CO-33, TSH1	uc002lly.4	Q6ZSZ6	OTTHUMG00000132859	ENST00000580243.1:c.2157C>T	18.37:g.72999519C>T							p.L674L	NM_005786	NP_005777	Q6ZSZ6	TSH1_HUMAN		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)	2	2585	+		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)	719					O60534|Q4LE29|Q53EU4	Silent	SNP	ENST00000580243.1	37	c.2022C>T																																																																																					0.572	TSHZ1-005	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000444913.1	NM_005786		6	31	0	0	0	0.00308	0	6	31				
CTDP1	9150	broad.mit.edu	37	18	77455237	77455237	+	Silent	SNP	G	G	C			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr18:77455237G>C	ENST00000299543.7	+	2	474	c.327G>C	c.(325-327)gtG>gtC	p.V109V	CTDP1_ENST00000075430.7_Silent_p.V109V	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	109					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)		CGGTTCTGGTGAGGTTGGAAG	0.453																																							uc002lnh.1		NA																	0					0						c.(325-327)GTG>GTC		CTD (carboxy-terminal domain, RNA polymerase II,							128.0	114.0	119.0					18																	77455237		2203	4300	6503	SO:0001819	synonymous_variant	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.chr18:77455237G>C	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.327G>C	18.37:g.77455237G>C						CTDP1_uc002lni.1_Silent_p.V109V|CTDP1_uc010drd.1_Silent_p.V109V	p.V109V	NM_004715	NP_004706	Q9Y5B0	CTDP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;5.2e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0277)	2	474	+		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)	109					A8MY97|Q7Z644|Q96BZ1|Q9Y6F5	Silent	SNP	ENST00000299543.7	37	c.327G>C	CCDS12017.1																																																																																				0.453	CTDP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256432.1	NM_004715		12	57	0	0	0	0.003163	0	12	57				
CTDP1	9150	broad.mit.edu	37	18	77477965	77477965	+	Missense_Mutation	SNP	C	C	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr18:77477965C>T	ENST00000299543.7	+	10	2513	c.2366C>T	c.(2365-2367)cCc>cTc	p.P789L	CTDP1_ENST00000075430.7_Missense_Mutation_p.P789L	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	789					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)		GCCCGGGGGCCCCCAGCACCC	0.667																																							uc002lnh.1		NA																	0					0						c.(2365-2367)CCC>CTC		CTD (carboxy-terminal domain, RNA polymerase II,							31.0	39.0	36.0					18																	77477965		2203	4299	6502	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.chr18:77477965C>T	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.2366C>T	18.37:g.77477965C>T	ENSP00000299543:p.Pro789Leu					CTDP1_uc002lni.1_Missense_Mutation_p.P789L|CTDP1_uc010drd.1_Missense_Mutation_p.P789L	p.P789L	NM_004715	NP_004706	Q9Y5B0	CTDP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;5.2e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0277)	10	2513	+		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)	789					A8MY97|Q7Z644|Q96BZ1|Q9Y6F5	Missense_Mutation	SNP	ENST00000299543.7	37	c.2366C>T	CCDS12017.1	.	.	.	.	.	.	.	.	.	.	C	7.256	0.604260	0.14002	.	.	ENSG00000060069	ENST00000299543;ENST00000075430	T;T	0.43688	0.94;0.94	5.07	2.21	0.28008	FCP1-like phosphatase, C-terminal (1);	0.340166	0.26832	N	0.022279	T	0.42832	0.1220	L	0.54323	1.7	0.09310	N	1	P;B;P	0.44946	0.617;0.418;0.846	B;B;P	0.48982	0.242;0.121;0.597	T	0.29458	-1.0011	10	0.62326	D	0.03	-0.0727	6.4359	0.21823	0.1369:0.659:0.1319:0.0722	.	670;789;789	Q9Y5B0-3;Q9Y5B0-4;Q9Y5B0	.;.;CTDP1_HUMAN	L	789	ENSP00000299543:P789L;ENSP00000075430:P789L	ENSP00000075430:P789L	P	+	2	0	CTDP1	75578953	0.064000	0.20934	0.000000	0.03702	0.041000	0.13682	2.593000	0.46180	0.132000	0.18615	-0.311000	0.09066	CCC		0.667	CTDP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256432.1	NM_004715		4	61	0	0	0	0.001168	0	4	61				
PRSS57	400668	broad.mit.edu	37	19	694890	694890	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr19:694890C>A	ENST00000329267.7	-	2	189	c.160G>T	c.(160-162)Ggg>Tgg	p.G54W		NM_214710.3	NP_999875	Q6UWY2	PRS57_HUMAN	protease, serine, 57	54	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|lung(5)	6						TGTTGGCCCCCGAAGCGCACG	0.697																																							uc002lpl.1		NA																	0					0						c.(160-162)GGG>TGG		protease, serine-like 1 precursor							17.0	16.0	16.0					19																	694890		2196	4293	6489	SO:0001583	missense	400668				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr19:694890C>A	AY358594	CCDS12041.1	19p13.3	2012-03-26	2011-03-07	2011-03-07		ENSG00000185198		"""Serine peptidases / Serine peptidases"""	31397	protein-coding gene	gene with protein product			"""protease, serine-like 1"""	PRSSL1		12975309	Standard	NM_214710		Approved	UNQ782	uc002lpl.1	Q6UWY2		ENST00000329267.7:c.160G>T	19.37:g.694890C>A	ENSP00000327386:p.Gly54Trp					PRSSL1_uc010xfs.1_Missense_Mutation_p.G53W	p.G54W	NM_214710	NP_999875	Q6UWY2	PRS57_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	191	-		all_epithelial(18;2.19e-21)|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)	54			Peptidase S1.		B2RNW8	Missense_Mutation	SNP	ENST00000329267.7	37	c.160G>T	CCDS12041.1	.	.	.	.	.	.	.	.	.	.	C	14.16	2.452678	0.43531	.	.	ENSG00000185198	ENST00000329267	D	0.93659	-3.26	4.9	-0.664	0.11406	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	1.522810	0.04446	N	0.371811	D	0.93706	0.7989	L	0.33792	1.035	0.09310	N	1	D;D	0.69078	0.997;0.997	D;D	0.65443	0.935;0.935	D	0.85140	0.0980	10	0.51188	T	0.08	.	9.416	0.38521	0.0:0.4971:0.4119:0.0909	.	53;54	B7ZMF6;Q6UWY2	.;PRS57_HUMAN	W	54	ENSP00000327386:G54W	ENSP00000327386:G54W	G	-	1	0	PRSS57	645890	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.581000	0.05820	0.103000	0.17682	-0.458000	0.05436	GGG		0.697	PRSS57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452480.2	NM_214710		8	1	1	0	2.17888e-05	0.006214	2.40535e-05	8	1				
ABCA7	10347	broad.mit.edu	37	19	1043466	1043466	+	Missense_Mutation	SNP	G	G	C			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr19:1043466G>C	ENST00000263094.6	+	9	1155	c.924G>C	c.(922-924)atG>atC	p.M308I	ABCA7_ENST00000435683.2_Missense_Mutation_p.M170I|ABCA7_ENST00000433129.1_Missense_Mutation_p.M308I	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	308					apolipoprotein A-I-mediated signaling pathway (GO:0038027)|ATP catabolic process (GO:0006200)|cholesterol efflux (GO:0033344)|high-density lipoprotein particle assembly (GO:0034380)|memory (GO:0007613)|negative regulation of amyloid precursor protein biosynthetic process (GO:0042985)|negative regulation of ATPase activity (GO:0032780)|negative regulation of beta-amyloid formation (GO:1902430)|peptide cross-linking (GO:0018149)|phagocytosis (GO:0006909)|phospholipid efflux (GO:0033700)|phospholipid scrambling (GO:0017121)|positive regulation of ATPase activity (GO:0032781)|positive regulation of beta-amyloid clearance (GO:1900223)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of engulfment of apoptotic cell (GO:1901076)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phagocytosis (GO:0050766)|positive regulation of phospholipid efflux (GO:1902995)|protein localization to nucleus (GO:0034504)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|ATP-binding cassette (ABC) transporter complex (GO:0043190)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	apolipoprotein A-I receptor activity (GO:0034188)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phospholipid transporter activity (GO:0005548)|transporter activity (GO:0005215)			NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|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)		GGAAGCTCATGGCCCAGGTGG	0.652																																							uc002lqw.3		NA																	0				pancreas(7)|ovary(1)|central_nervous_system(1)	9						c.(922-924)ATG>ATC		ATP-binding cassette, sub-family A, member 7							66.0	76.0	72.0					19																	1043466		2203	4300	6503	SO:0001583	missense	10347				phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity	g.chr19:1043466G>C	AF328787	CCDS12055.1	19p13.3	2012-03-14			ENSG00000064687	ENSG00000064687		"""ATP binding cassette transporters / subfamily A"""	37	protein-coding gene	gene with protein product		605414					Standard	NM_019112		Approved	ABCX	uc002lqw.4	Q8IZY2	OTTHUMG00000167547	ENST00000263094.6:c.924G>C	19.37:g.1043466G>C	ENSP00000263094:p.Met308Ile					ABCA7_uc010dsb.1_Missense_Mutation_p.M170I	p.M308I	NM_019112	NP_061985	Q8IZY2	ABCA7_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)	9	1155	+		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)	308			Extracellular (By similarity).		Q96S58|Q9BZC4|Q9NR73|Q9UKP8	Missense_Mutation	SNP	ENST00000263094.6	37	c.924G>C	CCDS12055.1	.	.	.	.	.	.	.	.	.	.	G	7.126	0.578876	0.13686	.	.	ENSG00000064687	ENST00000263094;ENST00000433129	D;D	0.84589	-1.87;-1.87	4.25	4.25	0.50352	.	.	.	.	.	T	0.81494	0.4834	L	0.39898	1.24	0.27750	N	0.944195	B;B	0.29988	0.264;0.04	B;B	0.38683	0.279;0.023	T	0.68546	-0.5380	9	0.11182	T	0.66	.	14.1326	0.65266	0.0:0.0:1.0:0.0	.	170;308	Q8IZY2-2;Q8IZY2	.;ABCA7_HUMAN	I	308	ENSP00000263094:M308I;ENSP00000414062:M308I	ENSP00000263094:M308I	M	+	3	0	ABCA7	994466	1.000000	0.71417	1.000000	0.80357	0.584000	0.36387	3.269000	0.51592	1.937000	0.56155	0.313000	0.20887	ATG		0.652	ABCA7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000394993.1	NM_019112		33	95	0	0	0	0.006999	0	33	95				
DAZAP1	26528	broad.mit.edu	37	19	1428883	1428883	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr19:1428883G>T	ENST00000233078.4	+	8	750	c.589G>T	c.(589-591)Gcg>Tcg	p.A197S	DAZAP1_ENST00000336761.6_Missense_Mutation_p.A197S|DAZAP1_ENST00000586579.1_3'UTR	NM_018959.2	NP_061832.2	Q96EP5	DAZP1_HUMAN	DAZ associated protein 1	197					cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|maternal placenta development (GO:0001893)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|RNA stem-loop binding (GO:0035613)			breast(2)|endometrium(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	9		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)		CAAGAGCCAAGCGCCGGGACA	0.657																																							uc002lsn.2		NA																	0				breast(1)	1						c.(589-591)GCG>TCG		DAZ associated protein 1 isoform b							34.0	43.0	40.0					19																	1428883		2203	4299	6502	SO:0001583	missense	26528				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm|nucleus	nucleotide binding|RNA binding	g.chr19:1428883G>T		CCDS12065.1, CCDS12066.1	19p13.3	2013-07-16			ENSG00000071626	ENSG00000071626		"""RNA binding motif (RRM) containing"""	2683	protein-coding gene	gene with protein product	"""deleted in azoospermia associated protein 1"""	607430				10857750, 23658607	Standard	XM_005259530		Approved	MGC19907	uc002lsn.3	Q96EP5		ENST00000233078.4:c.589G>T	19.37:g.1428883G>T	ENSP00000233078:p.Ala197Ser					DAZAP1_uc002lsm.2_Missense_Mutation_p.A197S|DAZAP1_uc002lso.2_Missense_Mutation_p.A196S|DAZAP1_uc002lsl.1_Missense_Mutation_p.A197S	p.A197S	NM_018959	NP_061832	Q96EP5	DAZP1_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)	8	778	+		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)	197					Q96MJ3|Q9NRR9	Missense_Mutation	SNP	ENST00000233078.4	37	c.589G>T	CCDS12065.1	.	.	.	.	.	.	.	.	.	.	G	8.173	0.792076	0.16258	.	.	ENSG00000071626	ENST00000233078;ENST00000336761	T;T	0.74002	-0.8;-0.8	5.03	2.74	0.32292	Nucleotide-binding, alpha-beta plait (1);	0.270973	0.42420	D	0.000717	T	0.49813	0.1579	N	0.14661	0.345	0.40266	D	0.97823	B;B;B	0.13594	0.005;0.008;0.001	B;B;B	0.12156	0.007;0.005;0.003	T	0.30707	-0.9969	10	0.15499	T	0.54	.	5.0138	0.14326	0.1628:0.3798:0.4574:0.0	.	264;197;197	Q5IRN4;Q96EP5;Q96EP5-2	.;DAZP1_HUMAN;.	S	197	ENSP00000233078:A197S;ENSP00000337132:A197S	ENSP00000233078:A197S	A	+	1	0	DAZAP1	1379883	1.000000	0.71417	0.867000	0.34043	0.864000	0.49448	1.869000	0.39519	1.125000	0.41998	-0.264000	0.10439	GCG		0.657	DAZAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449522.3	NM_170711		12	50	1	0	6.40141e-05	0.000978	6.99029e-05	12	50				
CREB3L3	84699	broad.mit.edu	37	19	4170148	4170148	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr19:4170148G>T	ENST00000078445.2	+	7	980	c.833G>T	c.(832-834)tGc>tTc	p.C278F	CREB3L3_ENST00000252587.3_Intron|CREB3L3_ENST00000602147.1_Missense_Mutation_p.L242F|CREB3L3_ENST00000602257.1_Missense_Mutation_p.C276F|CREB3L3_ENST00000595923.1_Missense_Mutation_p.C277F	NM_001271995.1|NM_001271996.1|NM_032607.1	NP_001258924.1|NP_001258925.1|NP_115996.1	Q68CJ9	CR3L3_HUMAN	cAMP responsive element binding protein 3-like 3	278	bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.				positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to unfolded protein (GO:0006986)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)			breast(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|urinary_tract(3)	24				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0232)|STAD - Stomach adenocarcinoma(1328;0.18)		ATGTCAGCTTGCACTGCTCAG	0.552																																							uc002lzl.2		NA																	0				ovary(1)|skin(1)	2						c.(832-834)TGC>TTC		cAMP responsive element binding protein 3-like							123.0	101.0	109.0					19																	4170148		2203	4300	6503	SO:0001583	missense	84699				response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr19:4170148G>T		CCDS12121.1, CCDS62498.1, CCDS62499.1, CCDS62500.1	19p13.3	2013-01-10				ENSG00000060566		"""basic leucine zipper proteins"""	18855	protein-coding gene	gene with protein product		611998				11353085	Standard	NM_032607		Approved	CREB-H	uc002lzl.4	Q68CJ9		ENST00000078445.2:c.833G>T	19.37:g.4170148G>T	ENSP00000078445:p.Cys278Phe					CREB3L3_uc002lzm.2_Missense_Mutation_p.C268F|CREB3L3_uc010xib.1_Missense_Mutation_p.C267F|CREB3L3_uc010xic.1_Missense_Mutation_p.L233F	p.C278F	NM_032607	NP_115996	Q68CJ9	CR3L3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0232)|STAD - Stomach adenocarcinoma(1328;0.18)	7	949	+			278			Cytoplasmic (Potential).|Leucine-zipper.		B2R7S6|B7ZL69|M0QYW7|Q6ZMC5|Q96TB9	Missense_Mutation	SNP	ENST00000078445.2	37	c.833G>T	CCDS12121.1	.	.	.	.	.	.	.	.	.	.	G	19.07	3.755266	0.69648	.	.	ENSG00000060566	ENST00000078445	T	0.51574	0.7	5.37	4.32	0.51571	Basic-leucine zipper (bZIP) transcription factor (2);bZIP transcription factor, bZIP-1 (1);	.	.	.	.	T	0.64427	0.2597	M	0.73372	2.23	0.80722	D	1	D;D;D	0.71674	0.998;0.995;0.996	D;D;D	0.72982	0.973;0.964;0.979	T	0.63708	-0.6576	9	0.36615	T	0.2	.	12.09	0.53719	0.0854:0.0:0.9146:0.0	.	276;277;278	B7ZL69;Q68CJ9-2;Q68CJ9	.;.;CR3L3_HUMAN	F	278	ENSP00000078445:C278F	ENSP00000078445:C278F	C	+	2	0	CREB3L3	4121148	1.000000	0.71417	0.865000	0.33974	0.987000	0.75469	5.801000	0.69115	1.254000	0.44035	0.650000	0.86243	TGC		0.552	CREB3L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457922.1	NM_032607		23	78	1	0	1.74197e-06	0.00632	1.97711e-06	23	78				
PTPRS	5802	broad.mit.edu	37	19	5218454	5218454	+	Missense_Mutation	SNP	C	C	G			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr19:5218454C>G	ENST00000587303.1	-	24	4124	c.4025G>C	c.(4024-4026)aGa>aCa	p.R1342T	PTPRS_ENST00000353284.2_Missense_Mutation_p.R911T|PTPRS_ENST00000592099.1_Missense_Mutation_p.R911T|PTPRS_ENST00000348075.2_Missense_Mutation_p.R1320T|PTPRS_ENST00000357368.4_Missense_Mutation_p.R1342T|PTPRS_ENST00000588012.1_Missense_Mutation_p.R1320T|PTPRS_ENST00000262963.6_Missense_Mutation_p.R1338T|PTPRS_ENST00000372412.4_Missense_Mutation_p.R1343T|PTPRS_ENST00000588552.1_5'UTR			Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type, S	1342					cell adhesion (GO:0007155)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|corpus callosum development (GO:0022038)|extracellular matrix organization (GO:0030198)|hippocampus development (GO:0021766)|peptidyl-tyrosine dephosphorylation (GO:0035335)|spinal cord development (GO:0021510)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)	Alendronate(DB00630)|Etidronic acid(DB01077)	GTTAATGCGTCTCATTTCCAC	0.552																																							uc002mbv.2		NA																	0				large_intestine(2)|ovary(1)|central_nervous_system(1)	4						c.(4024-4026)AGA>ACA		protein tyrosine phosphatase, receptor type,							219.0	202.0	208.0					19																	5218454		2203	4300	6503	SO:0001583	missense	5802				cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr19:5218454C>G	U35234	CCDS12139.1, CCDS12140.1, CCDS45930.1, CCDS74265.1	19p13.3	2013-02-11				ENSG00000105426		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9681	protein-coding gene	gene with protein product		601576				8954782, 8524829	Standard	NM_002850		Approved		uc002mbv.3	Q13332		ENST00000587303.1:c.4025G>C	19.37:g.5218454C>G	ENSP00000467537:p.Arg1342Thr					PTPRS_uc002mbu.1_Missense_Mutation_p.R911T|PTPRS_uc010xin.1_Missense_Mutation_p.R911T|PTPRS_uc002mbw.2_Missense_Mutation_p.R1320T|PTPRS_uc002mbx.2_Missense_Mutation_p.R915T|PTPRS_uc002mby.2_Missense_Mutation_p.R911T	p.R1342T	NM_002850	NP_002841	Q13332	PTPRS_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)	25	4259	-			1342			Cytoplasmic (Potential).		O75255|O75870|Q15718|Q16341|Q2M3R7	Missense_Mutation	SNP	ENST00000587303.1	37	c.4025G>C	CCDS45930.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.611261	0.87258	.	.	ENSG00000105426	ENST00000536396;ENST00000372412;ENST00000357368;ENST00000355005;ENST00000356037;ENST00000262963;ENST00000348075;ENST00000355322;ENST00000544524;ENST00000353284	T;T;T;T;T	0.57273	0.59;0.58;0.53;0.41;0.51	4.3	4.3	0.51218	.	0.000000	0.64402	U	0.000010	T	0.76285	0.3966	M	0.87900	2.915	0.80722	D	1	P;D;D;D;D;D	0.89917	0.83;0.999;0.999;0.974;0.999;1.0	P;D;D;P;D;D	0.91635	0.646;0.986;0.999;0.804;0.998;0.996	T	0.82252	-0.0549	10	0.87932	D	0	.	16.9445	0.86227	0.0:1.0:0.0:0.0	.	924;911;915;1320;1342;937	F8W800;Q13332-7;F5H2T4;Q13332-6;Q13332;Q59FX6	.;.;.;.;PTPRS_HUMAN;.	T	937;1343;1342;1342;1333;1338;1320;924;915;911	ENSP00000361489:R1343T;ENSP00000349932:R1342T;ENSP00000262963:R1338T;ENSP00000269907:R1320T;ENSP00000327313:R911T	ENSP00000262963:R1338T	R	-	2	0	PTPRS	5169454	1.000000	0.71417	0.980000	0.43619	0.923000	0.55619	7.209000	0.77916	2.232000	0.73038	0.561000	0.74099	AGA		0.552	PTPRS-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450762.2			13	246	0	0	0	0.00499	0	13	246				
ZNRF4	148066	broad.mit.edu	37	19	5456536	5456536	+	Missense_Mutation	SNP	G	G	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr19:5456536G>A	ENST00000222033.4	+	1	1111	c.1034G>A	c.(1033-1035)cGg>cAg	p.R345Q		NM_181710.3	NP_859061.3	Q8WWF5	ZNRF4_HUMAN	zinc and ring finger 4	345						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			NS(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;0.0002)		CAAGCCCCCCGGCGCTCCTGC	0.622																																							uc002mca.3		NA																	0				large_intestine(2)	2						c.(1033-1035)CGG>CAG		zinc and ring finger 4 precursor							92.0	104.0	100.0					19																	5456536		2013	4159	6172	SO:0001583	missense	148066					integral to membrane	zinc ion binding	g.chr19:5456536G>A	AK098722	CCDS42475.1	19p13.3	2013-01-09				ENSG00000105428		"""RING-type (C3HC4) zinc fingers"""	17726	protein-coding gene	gene with protein product		612063					Standard	NM_181710		Approved	spzn, Ssrzf1, RNF204	uc002mca.4	Q8WWF5		ENST00000222033.4:c.1034G>A	19.37:g.5456536G>A	ENSP00000222033:p.Arg345Gln						p.R345Q	NM_181710	NP_859061	Q8WWF5	ZNRF4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;0.0002)	1	1111	+			345			RING-type; atypical.|Cytoplasmic (Potential).		A8K886|O75866	Missense_Mutation	SNP	ENST00000222033.4	37	c.1034G>A	CCDS42475.1	.	.	.	.	.	.	.	.	.	.	G	12.95	2.090721	0.36855	.	.	ENSG00000105428	ENST00000222033	T	0.41065	1.01	4.47	-2.07	0.07276	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.414815	0.21941	N	0.066868	T	0.24353	0.0590	L	0.37850	1.14	0.09310	N	1	P	0.41232	0.743	B	0.33750	0.169	T	0.19778	-1.0295	10	0.51188	T	0.08	-16.2542	8.5077	0.33197	0.5865:0.0:0.4135:0.0	.	345	Q8WWF5	ZNRF4_HUMAN	Q	345	ENSP00000222033:R345Q	ENSP00000222033:R345Q	R	+	2	0	ZNRF4	5407536	0.000000	0.05858	0.011000	0.14972	0.659000	0.38960	-0.622000	0.05553	-0.053000	0.13289	0.561000	0.74099	CGG		0.622	ZNRF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450924.1	NM_181710		18	103	0	0	0	0.00278	0	18	103				
TUBB4A	10382	broad.mit.edu	37	19	6495474	6495474	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr19:6495474G>T	ENST00000264071.2	-	4	1407	c.1036C>A	c.(1036-1038)Ccc>Acc	p.P346T	TUBB4A_ENST00000540257.1_Missense_Mutation_p.P346T|CTD-2396E7.10_ENST00000596027.1_RNA|CTD-2396E7.9_ENST00000599292.1_RNA			P04350	TBB4A_HUMAN	tubulin, beta 4A class IVa	346					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based process (GO:0007017)|mitotic cell cycle (GO:0000278)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cilium (GO:0005929)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|internode region of axon (GO:0033269)|microtubule (GO:0005874)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)										ACGTTGTTGGGGATCCACTCC	0.632																																							uc002mfg.1		NA																	0				ovary(2)	2						c.(1036-1038)CCC>ACC		tubulin, beta 4							186.0	152.0	163.0					19																	6495474		2203	4300	6503	SO:0001583	missense	10382				'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	g.chr19:6495474G>T	AK075307	CCDS12168.1	19p13.3	2014-02-05	2011-10-11	2011-10-10	ENSG00000104833	ENSG00000104833		"""Tubulins"""	20774	protein-coding gene	gene with protein product	"""class IVa beta-tubulin"""	602662	"""tubulin, beta 4"", ""tubulin, beta 4 class IVa"", ""dystonia 4, torsion (autosomal dominant)"""	TUBB4, DYT4		6865944, 6462917, 23595291	Standard	NM_001289123		Approved	beta-5	uc002mfg.1	P04350		ENST00000264071.2:c.1036C>A	19.37:g.6495474G>T	ENSP00000264071:p.Pro346Thr					TUBB4_uc002mff.1_Missense_Mutation_p.P274T|MIR220B_hsa-mir-220b|MI0005529_5'Flank	p.P346T	NM_006087	NP_006078	P04350	TBB4_HUMAN		Lung(535;3.23e-05)|STAD - Stomach adenocarcinoma(1328;8.24e-05)|GBM - Glioblastoma multiforme(1328;0.00839)|READ - Rectum adenocarcinoma(264;0.155)	4	1143	-		Hepatocellular(1079;0.00213)|Renal(1328;0.0183)	346					B3KQP4|Q969E5	Missense_Mutation	SNP	ENST00000264071.2	37	c.1036C>A	CCDS12168.1	.	.	.	.	.	.	.	.	.	.	G	14.74	2.625005	0.46840	.	.	ENSG00000104833	ENST00000264071;ENST00000540257;ENST00000412858	D;D	0.90004	-2.6;-2.6	3.43	3.43	0.39272	.	0.000000	0.64402	U	0.000002	D	0.97012	0.9024	H	0.99758	4.755	0.54753	D	0.999989	D	0.89917	1.0	D	0.97110	1.0	D	0.98023	1.0372	10	0.87932	D	0	.	13.6752	0.62449	0.0:0.0:1.0:0.0	.	346	P04350	TBB4A_HUMAN	T	346;346;264	ENSP00000264071:P346T;ENSP00000443590:P346T	ENSP00000264071:P346T	P	-	1	0	TUBB4	6446474	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	9.584000	0.98220	1.473000	0.48159	0.306000	0.20318	CCC		0.632	TUBB4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457841.1	NM_006087		89	118	1	0	1.44786e-46	0.00361	2.32256e-46	89	118				
CD70	970	broad.mit.edu	37	19	6590933	6590933	+	Silent	SNP	G	G	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr19:6590933G>T	ENST00000245903.3	-	1	230	c.81C>A	c.(79-81)gtC>gtA	p.V27V	CD70_ENST00000423145.3_Silent_p.V27V	NM_001252.3	NP_001243.1	P32970	CD70_HUMAN	CD70 molecule	27					cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|extrinsic apoptotic signaling pathway (GO:0097191)|immune response (GO:0006955)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	protease binding (GO:0002020)|receptor binding (GO:0005102)			endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|skin(1)	11						CCAAGCCCGCGACCAATGGGA	0.662																																					Pancreas(183;2617 2876 10173 34193)	Pancreas(183;2617 2876 10173 34193)	uc002mfi.2		NA																	0					0						c.(79-81)GTC>GTA		tumor necrosis factor ligand superfamily, member							65.0	66.0	66.0					19																	6590933		2203	4300	6503	SO:0001819	synonymous_variant	970				cell proliferation|cell-cell signaling|immune response|induction of apoptosis|signal transduction	extracellular space|integral to membrane of membrane fraction|integral to plasma membrane	cytokine activity|protease binding|tumor necrosis factor receptor binding	g.chr19:6590933G>T	L08096	CCDS12170.1	19p13	2013-05-22	2006-10-27	2006-10-27		ENSG00000125726		"""Tumor necrosis factor (ligand) superfamily"", ""CD molecules"""	11937	protein-coding gene	gene with protein product		602840	"""tumor necrosis factor (ligand) superfamily, member 7"""	CD27LG, TNFSF7		8387892, 8120384	Standard	NM_001252		Approved	CD27L	uc002mfi.3	P32970		ENST00000245903.3:c.81C>A	19.37:g.6590933G>T						CD70_uc010xjf.1_Silent_p.V27V	p.V27V	NM_001252	NP_001243	P32970	CD70_HUMAN			1	231	-			27			Helical; Signal-anchor for type II membrane protein; (Potential).		B4DPR8|Q53XX4|Q96J57	Silent	SNP	ENST00000245903.3	37	c.81C>A	CCDS12170.1																																																																																				0.662	CD70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457860.1			12	70	1	0	2.32078e-09	0.003163	2.82811e-09	12	70				
EMR1	2015	broad.mit.edu	37	19	6890521	6890521	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr19:6890521C>A	ENST00000312053.4	+	2	98	c.61C>A	c.(61-63)Cac>Aac	p.H21N	EMR1_ENST00000450315.3_Missense_Mutation_p.H21N|EMR1_ENST00000250572.8_Missense_Mutation_p.H21N|EMR1_ENST00000381404.4_Missense_Mutation_p.H21N|EMR1_ENST00000381407.5_Missense_Mutation_p.H21N	NM_001974.4	NP_001965.3	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 1	21					cell adhesion (GO:0007155)|G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62	all_hematologic(4;0.166)					CTGGGAAGGGCACATAAGACC	0.428																																							uc002mfw.2		NA																	0				ovary(3)|lung(1)|skin(1)	5						c.(61-63)CAC>AAC		egf-like module containing, mucin-like, hormone							99.0	77.0	85.0					19																	6890521		2203	4300	6503	SO:0001583	missense	2015				cell adhesion|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr19:6890521C>A	X81479	CCDS12175.1, CCDS58643.1, CCDS58644.1, CCDS58645.1, CCDS58646.1	19p13.3	2014-08-08	2003-11-26					"""-"", ""GPCR / Class B : Orphans"""	3336	protein-coding gene	gene with protein product		600493	"""egf-like module containing, mucin-like, hormone receptor-like sequence 1"""	TM7LN3		7601460, 9500513	Standard	NM_001974		Approved		uc002mfw.4	Q14246		ENST00000312053.4:c.61C>A	19.37:g.6890521C>A	ENSP00000311545:p.His21Asn					EMR1_uc010dvc.2_Missense_Mutation_p.H21N|EMR1_uc010dvb.2_Missense_Mutation_p.H21N|EMR1_uc010xji.1_Missense_Mutation_p.H21N|EMR1_uc010xjj.1_Missense_Mutation_p.H21N	p.H21N	NM_001974	NP_001965	Q14246	EMR1_HUMAN			2	99	+	all_hematologic(4;0.166)		21			Extracellular (Potential).		A6NHV2|B7Z486|B7Z489|E7EPX9|E9PD45|H9KV79|Q2I7G5|Q6ZMN0|Q8NGA7	Missense_Mutation	SNP	ENST00000312053.4	37	c.61C>A	CCDS12175.1	.	.	.	.	.	.	.	.	.	.	C	2.857	-0.237002	0.05944	.	.	ENSG00000174837	ENST00000543519;ENST00000312053;ENST00000381404;ENST00000250572;ENST00000381407;ENST00000450315	T;T;T;T;T	0.77750	-1.08;-1.11;-1.12;0.07;0.41	1.93	-1.97	0.07503	.	.	.	.	.	T	0.59128	0.2171	N	0.19112	0.55	0.09310	N	1	B;D;B;B;B	0.53885	0.072;0.963;0.001;0.0;0.002	B;P;B;B;B	0.46208	0.021;0.507;0.004;0.001;0.003	T	0.53528	-0.8426	9	0.19147	T	0.46	.	2.9442	0.05840	0.0:0.4399:0.2377:0.3224	.	21;21;21;21;21	E7EPX9;B7Z486;Q14246-2;E9PD45;Q14246	.;.;.;.;EMR1_HUMAN	N	21	ENSP00000311545:H21N;ENSP00000370811:H21N;ENSP00000250572:H21N;ENSP00000370814:H21N;ENSP00000405974:H21N	ENSP00000250572:H21N	H	+	1	0	EMR1	6841521	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-1.752000	0.01819	-0.388000	0.07797	0.655000	0.94253	CAC		0.428	EMR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458485.1			5	25	1	0	2.7689e-08	0.001984	3.30238e-08	5	25				
ZNF358	140467	broad.mit.edu	37	19	7584121	7584121	+	5'UTR	SNP	C	C	T	rs561154955		TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr19:7584121C>T	ENST00000597229.1	+	0	163				CTD-2207O23.11_ENST00000602083.1_RNA|ZNF358_ENST00000394341.2_5'UTR|CTD-2207O23.12_ENST00000599312.1_Missense_Mutation_p.R31C	NM_018083.4	NP_060553.4	Q9NW07	ZN358_HUMAN	zinc finger protein 358						embryonic forelimb morphogenesis (GO:0035115)|neural tube development (GO:0021915)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|lung(1)|skin(2)	8						GGCACATCCACGCCTGAAATG	0.602																																							uc002mgn.2		NA																	0				central_nervous_system(1)	1						c.(-9--5)CACGC>CATGC		zinc finger protein 358							57.0	64.0	62.0					19																	7584121		2109	4248	6357	SO:0001623	5_prime_UTR_variant	140467				embryonic forelimb morphogenesis|neural tube development|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:7584121C>T	AK001252	CCDS32890.2	19p13.2	2013-01-08			ENSG00000198816	ENSG00000198816		"""Zinc fingers, C2H2-type"""	16838	protein-coding gene	gene with protein product							Standard	NM_018083		Approved	FLJ10390, ZFEND	uc002mgn.2	Q9NW07		ENST00000597229.1:c.-8C>T	19.37:g.7584121C>T								NM_018083	NP_060553	Q9NW07	ZN358_HUMAN			2	163	+								Q9BTM7	Translation_Start_Site	SNP	ENST00000597229.1	37	c.-7C>T	CCDS32890.2																																																																																				0.602	ZNF358-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316747.1			12	73	0	0	0	0.004007	0	12	73				
ZNF358	140467	broad.mit.edu	37	19	7585782	7585782	+	Nonsense_Mutation	SNP	G	G	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr19:7585782G>T	ENST00000597229.1	+	2	1824	c.1654G>T	c.(1654-1656)Gag>Tag	p.E552*	CTD-2207O23.11_ENST00000602083.1_RNA|ZNF358_ENST00000394341.2_Nonsense_Mutation_p.E552*|MCOLN1_ENST00000264079.6_5'Flank	NM_018083.4	NP_060553.4	Q9NW07	ZN358_HUMAN	zinc finger protein 358	552					embryonic forelimb morphogenesis (GO:0035115)|neural tube development (GO:0021915)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|lung(1)|skin(2)	8						CCCTACCGGCGAGAGTCCAGA	0.652																																							uc002mgn.2		NA																	0				central_nervous_system(1)	1						c.(1654-1656)GAG>TAG		zinc finger protein 358							60.0	53.0	55.0					19																	7585782		2203	4300	6503	SO:0001587	stop_gained	140467				embryonic forelimb morphogenesis|neural tube development|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:7585782G>T	AK001252	CCDS32890.2	19p13.2	2013-01-08			ENSG00000198816	ENSG00000198816		"""Zinc fingers, C2H2-type"""	16838	protein-coding gene	gene with protein product							Standard	NM_018083		Approved	FLJ10390, ZFEND	uc002mgn.2	Q9NW07		ENST00000597229.1:c.1654G>T	19.37:g.7585782G>T	ENSP00000472305:p.Glu552*					MCOLN1_uc010dvh.1_5'Flank|MCOLN1_uc002mgo.2_5'Flank|MCOLN1_uc002mgp.2_5'Flank	p.E552*	NM_018083	NP_060553	Q9NW07	ZN358_HUMAN			2	1824	+			552					Q9BTM7	Nonsense_Mutation	SNP	ENST00000597229.1	37	c.1654G>T	CCDS32890.2	.	.	.	.	.	.	.	.	.	.	g	26.0	4.699508	0.88830	.	.	ENSG00000198816	ENST00000361576;ENST00000394341	.	.	.	3.82	2.78	0.32641	.	.	.	.	.	.	.	.	.	.	.	0.47698	D	0.999493	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	.	5.6903	0.17825	0.1075:0.1987:0.6938:0.0	.	.	.	.	X	552	.	ENSP00000354703:E552X	E	+	1	0	ZNF358	7491782	0.000000	0.05858	0.015000	0.15790	0.302000	0.27658	0.076000	0.14712	1.209000	0.43321	-0.119000	0.15052	GAG		0.652	ZNF358-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316747.1			18	79	1	0	2.94398e-08	0.007413	3.49468e-08	18	79				
CLEC4G	339390	broad.mit.edu	37	19	7794745	7794745	+	Missense_Mutation	SNP	C	C	G			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr19:7794745C>G	ENST00000328853.5	-	8	773	c.705G>C	c.(703-705)caG>caC	p.Q235H	CLEC4G_ENST00000598081.1_5'Flank	NM_001244856.1|NM_198492.3	NP_001231785.1|NP_940894.1	Q6UXB4	CLC4G_HUMAN	C-type lectin domain family 4, member G	235	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.					integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			breast(1)|cervix(2)|endometrium(1)|large_intestine(1)|lung(1)	6						ACTGGTAGCCCTGAACCTTGC	0.612																																					Esophageal Squamous(146;540 1807 3349 19438 30853)	Esophageal Squamous(146;540 1807 3349 19438 30853)	uc002mhp.3		NA																	0					0						c.(703-705)CAG>CAC		C-type lectin domain family 4, member G							80.0	73.0	75.0					19																	7794745		2203	4300	6503	SO:0001583	missense	339390					integral to membrane	protein binding|sugar binding	g.chr19:7794745C>G	AY358431	CCDS12185.1	19p13.2	2010-04-27	2008-11-04			ENSG00000182566		"""C-type lectin domain containing"""	24591	protein-coding gene	gene with protein product			"""C-type lectin superfamily 4, member G"""			12975309	Standard	NM_198492		Approved	UNQ431, LSECtin	uc002mhp.4	Q6UXB4		ENST00000328853.5:c.705G>C	19.37:g.7794745C>G	ENSP00000327599:p.Gln235His						p.Q235H	NM_198492	NP_940894	Q6UXB4	CLC4G_HUMAN			8	774	-			235			Extracellular (Potential).|C-type lectin.			Missense_Mutation	SNP	ENST00000328853.5	37	c.705G>C	CCDS12185.1	.	.	.	.	.	.	.	.	.	.	C	17.14	3.313021	0.60414	.	.	ENSG00000182566	ENST00000328853;ENST00000381308	T	0.16897	2.31	5.53	-2.3	0.06785	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.225948	0.22693	N	0.056791	T	0.25754	0.0627	M	0.64997	1.995	0.09310	N	1	D	0.58970	0.984	P	0.62649	0.905	T	0.06899	-1.0801	10	0.40728	T	0.16	.	5.0136	0.14324	0.1398:0.4014:0.0:0.4588	.	235	Q6UXB4	CLC4G_HUMAN	H	235;119	ENSP00000327599:Q235H	ENSP00000327599:Q235H	Q	-	3	2	CLEC4G	7700745	0.003000	0.15002	0.000000	0.03702	0.163000	0.22366	-0.309000	0.08145	-0.147000	0.11254	0.563000	0.77884	CAG		0.612	CLEC4G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461989.1	NM_198492		10	78	0	0	0	0.00245	0	10	78				
MUC16	94025	broad.mit.edu	37	19	9056231	9056232	+	Missense_Mutation	DNP	AA	AA	CT	rs192023755	byFrequency	TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	AA	AA	-	-	AA	AA	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr19:9056231_9056232AA>CT	ENST00000397910.4	-	3	31417_31418	c.31214_31215TT>AG	c.(31213-31215)gTT>gAG	p.V10405E		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10407	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TTCCCAGCTCAACGCTCTCTGT	0.485																																							uc002mkp.2		NA																	0				lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(31213-31215)GTT>GAG		mucin 16																																				SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9056231_9056232AA>CT	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.31214_31215delinsCT	19.37:g.9056231_9056232delinsCT	ENSP00000381008:p.Val10405Glu						p.V10405E	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			3	31418_31419	-			10407			Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Missense_Mutation	DNP	ENST00000397910.4	37	c.31214_31215TT>AG	CCDS54212.1																																																																																				0.485	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		27	63	0	0	0	0.004672	0	27	63				
SMARCA4	6597	broad.mit.edu	37	19	11136108	11136108	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr19:11136108G>T	ENST00000429416.3	+	23	3373	c.3092G>T	c.(3091-3093)gGc>gTc	p.G1031V	SMARCA4_ENST00000541122.2_Missense_Mutation_p.G1031V|SMARCA4_ENST00000344626.4_Missense_Mutation_p.G1031V|SMARCA4_ENST00000450717.3_Missense_Mutation_p.G1031V|SMARCA4_ENST00000444061.3_Missense_Mutation_p.G1031V|SMARCA4_ENST00000358026.2_Missense_Mutation_p.G1031V|SMARCA4_ENST00000413806.3_Missense_Mutation_p.G1031V|SMARCA4_ENST00000590574.1_Missense_Mutation_p.G1031V|SMARCA4_ENST00000589677.1_Missense_Mutation_p.G1031V	NM_001128844.1	NP_001122316.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	1031					aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|blastocyst growth (GO:0001832)|blastocyst hatching (GO:0001835)|cell morphogenesis (GO:0000902)|chromatin remodeling (GO:0006338)|definitive erythrocyte differentiation (GO:0060318)|DNA methylation on cytosine within a CG sequence (GO:0010424)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic organ morphogenesis (GO:0048562)|epidermis morphogenesis (GO:0048730)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|glial cell fate determination (GO:0007403)|heart trabecula formation (GO:0060347)|hindbrain development (GO:0030902)|histone H3 acetylation (GO:0043966)|keratinocyte differentiation (GO:0030216)|lens fiber cell development (GO:0070307)|liver development (GO:0001889)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell growth (GO:0030308)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription, DNA-templated (GO:0045892)|neural retina development (GO:0003407)|nucleosome disassembly (GO:0006337)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|vasculogenesis (GO:0001570)	extracellular space (GO:0005615)|heterochromatin (GO:0000792)|membrane (GO:0016020)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nuclear euchromatin (GO:0005719)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein N-terminus binding (GO:0047485)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				GGCAAAGGCGGCACCAAGACC	0.632			"""F, N, Mis"""		NSCLC																																		uc002mqf.3		NA		Rec	yes		19	19p13.2	6597	F|N|Mis	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4"""			E			NSCLC		1	Unknown(1)	p.?(1)	lung(1)	lung(29)|ovary(8)|pancreas(7)|large_intestine(5)|central_nervous_system(5)|skin(3)|prostate(3)|breast(2)|adrenal_gland(1)|stomach(1)|liver(1)|autonomic_ganglia(1)|kidney(1)	67						c.(3091-3093)GGC>GTC		SWI/SNF-related matrix-associated							101.0	82.0	88.0					19																	11136108		2203	4300	6503	SO:0001583	missense	6597	Rhabdoid_Predisposition_syndrome			chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	g.chr19:11136108G>T	D26156	CCDS12253.1, CCDS45972.1, CCDS45973.1, CCDS54217.1, CCDS54218.1	19p13.3	2014-09-17	2006-11-09		ENSG00000127616	ENSG00000127616			11100	protein-coding gene	gene with protein product	"""SNF2-like 4"", ""global transcription activator homologous sequence"", ""sucrose nonfermenting-like 4"", ""mitotic growth and transcription activator"", ""BRM/SWI2-related gene 1"", ""homeotic gene regulator"", ""nuclear protein GRB1"", ""brahma protein-like 1"", ""ATP-dependent helicase SMARCA4"""	603254		SNF2L4		8208605	Standard	NM_003072		Approved	hSNF2b, BRG1, BAF190, SNF2, SWI2, SNF2-BETA, SNF2LB, FLJ39786	uc010dxo.3	P51532	OTTHUMG00000169272	ENST00000429416.3:c.3092G>T	19.37:g.11136108G>T	ENSP00000395654:p.Gly1031Val					SMARCA4_uc010dxp.2_Missense_Mutation_p.G1031V|SMARCA4_uc010dxo.2_Missense_Mutation_p.G1031V|SMARCA4_uc002mqg.1_Missense_Mutation_p.G1031V|SMARCA4_uc010dxq.2_Missense_Mutation_p.G1031V|SMARCA4_uc010dxr.2_Missense_Mutation_p.G1031V|SMARCA4_uc002mqj.3_Missense_Mutation_p.G1031V|SMARCA4_uc010dxs.2_Missense_Mutation_p.G1031V|SMARCA4_uc010dxt.1_Missense_Mutation_p.G251V|SMARCA4_uc002mqh.3_Missense_Mutation_p.G154V|SMARCA4_uc002mqi.1_Missense_Mutation_p.G234V	p.G1031V	NM_003072	NP_003063	P51532	SMCA4_HUMAN			22	3376	+		all_lung(6;0.0512)|Lung NSC(9;0.0568)	1031					B1A8Z4|B1A8Z5|B1A8Z6|B1A8Z7|E9PBR8|O95052|Q9HBD3	Missense_Mutation	SNP	ENST00000429416.3	37	c.3092G>T	CCDS12253.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.505928	0.85282	.	.	ENSG00000127616	ENST00000429416;ENST00000358026;ENST00000421844;ENST00000344626;ENST00000541122;ENST00000444061;ENST00000450717;ENST00000413806	D;D;D;D;D;D;D	0.93076	-3.16;-3.16;-3.16;-3.16;-3.16;-3.16;-3.16	4.79	4.79	0.61399	SNF2-related (1);	0.000000	0.85682	D	0.000000	D	0.94751	0.8306	L	0.37850	1.14	0.80722	D	1	D;D;D;D;D;P;D;D	0.89917	1.0;0.999;0.999;1.0;1.0;0.941;0.999;0.999	D;D;D;D;D;P;D;D	0.91635	0.999;0.995;0.995;0.999;0.997;0.775;0.998;0.998	D	0.95458	0.8540	10	0.87932	D	0	-36.2975	16.7568	0.85502	0.0:0.0:1.0:0.0	.	1031;1031;1031;1031;1031;251;1031;1031	B1A8Z6;B1A8Z4;B1A8Z7;Q9HBD4;B1A8Z5;B4E0F1;A7E2E1;P51532	.;.;.;.;.;.;.;SMCA4_HUMAN	V	1031;1031;1095;1031;1031;1031;1031;1031	ENSP00000395654:G1031V;ENSP00000350720:G1031V;ENSP00000343896:G1031V;ENSP00000445036:G1031V;ENSP00000392837:G1031V;ENSP00000397783:G1031V;ENSP00000414727:G1031V	ENSP00000343896:G1031V	G	+	2	0	SMARCA4	10997108	1.000000	0.71417	0.997000	0.53966	0.966000	0.64601	7.568000	0.82369	2.486000	0.83907	0.655000	0.94253	GGC		0.632	SMARCA4-007	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000452638.2	NM_003072		9	67	1	0	1.76689e-08	0.006214	2.11232e-08	9	67				
ZNF441	126068	broad.mit.edu	37	19	11892146	11892146	+	Missense_Mutation	SNP	C	C	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr19:11892146C>T	ENST00000357901.4	+	4	1609	c.1507C>T	c.(1507-1509)Cat>Tat	p.H503Y	ZNF441_ENST00000454339.2_Missense_Mutation_p.H436Y	NM_152355.2	NP_689568.2	Q8N8Z8	ZN441_HUMAN	zinc finger protein 441	503					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						AGATGGACCTCATAAATGTAA	0.403																																							uc010dyj.2		NA																	0				ovary(1)	1						c.(1507-1509)CAT>TAT		zinc finger protein 441							92.0	92.0	92.0					19																	11892146		2203	4300	6503	SO:0001583	missense	126068				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:11892146C>T	AK095956	CCDS12266.2	19p13.13	2013-01-08			ENSG00000197044	ENSG00000197044		"""Zinc fingers, C2H2-type"", ""-"""	20875	protein-coding gene	gene with protein product							Standard	NM_152355		Approved	FLJ38637	uc010dyj.3	Q8N8Z8	OTTHUMG00000154449	ENST00000357901.4:c.1507C>T	19.37:g.11892146C>T	ENSP00000350576:p.His503Tyr					ZNF441_uc002msn.3_Missense_Mutation_p.H459Y	p.H503Y	NM_152355	NP_689568	Q8N8Z8	ZN441_HUMAN			4	1701	+			503			C2H2-type 13.			Missense_Mutation	SNP	ENST00000357901.4	37	c.1507C>T	CCDS12266.2	.	.	.	.	.	.	.	.	.	.	-	3.437	-0.114784	0.06881	.	.	ENSG00000197044	ENST00000409902;ENST00000357901;ENST00000454339	T;T	0.14144	2.53;2.53	1.22	0.14	0.14804	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.02571	0.0078	N	0.00504	-1.425	0.09310	N	1	B	0.11235	0.004	B	0.06405	0.002	T	0.43572	-0.9383	9	0.02654	T	1	.	5.0279	0.14395	0.0:0.2017:0.0:0.7983	.	503	Q8N8Z8	ZN441_HUMAN	Y	459;503;436	ENSP00000350576:H503Y;ENSP00000403738:H436Y	ENSP00000350576:H503Y	H	+	1	0	ZNF441	11753146	0.001000	0.12720	0.002000	0.10522	0.862000	0.49288	0.655000	0.24933	-0.007000	0.14345	0.305000	0.20034	CAT		0.403	ZNF441-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335273.3	NM_152355		29	48	0	0	0	0.007835	0	29	48				
ZNF440	126070	broad.mit.edu	37	19	11943217	11943217	+	Nonsense_Mutation	SNP	C	C	G			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr19:11943217C>G	ENST00000304060.5	+	4	1390	c.1226C>G	c.(1225-1227)tCa>tGa	p.S409*		NM_152357.2	NP_689570.2	Q8IYI8	ZN440_HUMAN	zinc finger protein 440	409					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(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(9)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						AGATCTGCCTCACACCTTCGA	0.458																																							uc002msp.1		NA																	0					0						c.(1225-1227)TCA>TGA		zinc finger protein 440							95.0	93.0	93.0					19																	11943217		2203	4300	6503	SO:0001587	stop_gained	126070				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:11943217C>G	AK095252	CCDS42503.1	19p13.13	2013-01-08	2006-08-14	2006-08-14	ENSG00000171295	ENSG00000171295		"""Zinc fingers, C2H2-type"", ""-"""	20874	protein-coding gene	gene with protein product							Standard	NM_152357		Approved	FLJ37933	uc002msp.1	Q8IYI8	OTTHUMG00000156403	ENST00000304060.5:c.1226C>G	19.37:g.11943217C>G	ENSP00000305373:p.Ser409*						p.S409*	NM_152357	NP_689570	Q8IYI8	ZN440_HUMAN			4	1382	+			409			C2H2-type 10.		Q8N1R9	Nonsense_Mutation	SNP	ENST00000304060.5	37	c.1226C>G	CCDS42503.1	.	.	.	.	.	.	.	.	.	.	c	16.88	3.244922	0.59103	.	.	ENSG00000171295	ENST00000304060	.	.	.	1.19	-2.37	0.06643	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	.	6.091	0.19995	0.1751:0.6081:0.2167:0.0	.	.	.	.	X	409	.	ENSP00000305373:S409X	S	+	2	0	ZNF440	11804217	0.000000	0.05858	0.000000	0.03702	0.020000	0.10135	-3.937000	0.00330	-0.876000	0.04017	0.205000	0.17691	TCA		0.458	ZNF440-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344508.1	NM_152357		19	75	0	0	0	0.00333	0	19	75				
FBXW9	84261	broad.mit.edu	37	19	12805682	12805683	+	Missense_Mutation	DNP	CC	CC	TA			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	CC	CC	-	-	CC	CC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr19:12805682_12805683CC>TA	ENST00000380339.3	-	2	515_516	c.479_480GG>TA	c.(478-480)gGG>gTA	p.G160V	FBXW9_ENST00000587955.1_Missense_Mutation_p.G150V|FBXW9_ENST00000393261.3_Missense_Mutation_p.G160V|FBXW9_ENST00000544494.1_Intron			Q5XUX1	FBXW9_HUMAN	F-box and WD repeat domain containing 9	160					SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)					cervix(1)|lung(4)|ovary(1)|prostate(1)	7						CGACCCAGCGCCCATCCTCTGC	0.644																																							uc010dyx.2		NA																	0				ovary(1)	1						c.(448-450)GGG>GTA		F-box and WD-40 domain protein 9																																				SO:0001583	missense	84261						protein binding	g.chr19:12805682_12805683CC>TA	BC004290	CCDS12278.2	19p13.2	2013-01-09	2007-02-08		ENSG00000132004	ENSG00000132004		"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	28136	protein-coding gene	gene with protein product		609074	"""F-box and WD-40 domain protein 9"""			12477932	Standard	NM_032301		Approved	MGC10870, Fbw9	uc002mum.1	Q5XUX1	OTTHUMG00000150152	ENST00000380339.3:c.479_480delinsTA	19.37:g.12805682_12805683delinsTA	ENSP00000369696:p.Gly160Val					FBXW9_uc010xmp.1_Intron|FBXW9_uc002mum.1_Missense_Mutation_p.G160V|FBXW9_uc002mun.1_Intron	p.G150V	NM_032301	NP_115677	Q5XUX1	FBXW9_HUMAN			2	449_450	-			160					B3KVP7|Q9BT89	Missense_Mutation	DNP	ENST00000380339.3	37	c.449_450GG>TA																																																																																					0.644	FBXW9-201	KNOWN	basic	protein_coding	protein_coding		NM_032301		4	23	0	0	0	0.004672	0	4	23				
PIK3R2	5296	broad.mit.edu	37	19	18273784	18273784	+	Missense_Mutation	SNP	G	G	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr19:18273784G>A	ENST00000593731.1	+	10	1677	c.1117G>A	c.(1117-1119)Ggg>Agg	p.G373R	PIK3R2_ENST00000222254.8_Missense_Mutation_p.G373R			O00459	P85B_HUMAN	phosphoinositide-3-kinase, regulatory subunit 2 (beta)	373	SH2 1. {ECO:0000255|PROSITE- ProRule:PRU00191}.		G -> R (in MPPH1). {ECO:0000269|PubMed:22729224}.		blood coagulation (GO:0007596)|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)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|phosphatidylinositol 3-kinase complex (GO:0005942)	phosphatidylinositol 3-kinase regulator activity (GO:0035014)|receptor tyrosine kinase binding (GO:0030971)	p.G373R(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(3)|pancreas(1)|stomach(1)	24					Isoprenaline(DB01064)	CAGGAAAGGCGGGAACAATAA	0.562																																							uc002nia.1		NA																	1	Substitution - Missense(1)		endometrium(1)	lung(2)|stomach(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|pancreas(1)	6						c.(1117-1119)GGG>AGG		phosphoinositide-3-kinase, regulatory subunit 2							92.0	76.0	81.0					19																	18273784		2203	4300	6503	SO:0001583	missense	5296				fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|negative regulation of anti-apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|T cell costimulation|T cell receptor signaling pathway	phosphatidylinositol 3-kinase complex	GTPase activator activity|phosphatidylinositol 3-kinase regulator activity|protein binding	g.chr19:18273784G>A		CCDS12371.1	19p13.11	2013-03-28	2008-02-04		ENSG00000105647	ENSG00000105647		"""SH2 domain containing"""	8980	protein-coding gene	gene with protein product		603157				1314371	Standard	NM_005027		Approved	P85B, p85	uc002nia.2	O00459	OTTHUMG00000183383	ENST00000593731.1:c.1117G>A	19.37:g.18273784G>A	ENSP00000471914:p.Gly373Arg					PIK3R2_uc002nib.1_RNA|PIK3R2_uc010ebi.1_RNA	p.G373R	NM_005027	NP_005018	O00459	P85B_HUMAN			10	1629	+			373			SH2 1.		Q5EAT5|Q9UPH9	Missense_Mutation	SNP	ENST00000593731.1	37	c.1117G>A	CCDS12371.1	.	.	.	.	.	.	.	.	.	.	G	16.31	3.088288	0.55968	.	.	ENSG00000105647	ENST00000222254	T	0.65916	-0.18	3.69	3.69	0.42338	SH2 motif (4);	0.000000	0.85682	D	0.000000	T	0.80529	0.4640	M	0.84433	2.695	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.84987	0.0892	10	0.87932	D	0	-43.1899	15.323	0.74139	0.0:0.0:1.0:0.0	.	373	O00459	P85B_HUMAN	R	373	ENSP00000222254:G373R	ENSP00000222254:G373R	G	+	1	0	PIK3R2	18134784	1.000000	0.71417	0.805000	0.32314	0.010000	0.07245	9.626000	0.98410	2.015000	0.59207	0.561000	0.74099	GGG		0.562	PIK3R2-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	protein_coding	OTTHUMT00000466386.2	NM_005027		11	94	0	0	0	0.00245	0	11	94				
MPV17L2	84769	broad.mit.edu	37	19	18305825	18305825	+	Missense_Mutation	SNP	C	C	G			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr19:18305825C>G	ENST00000599612.2	+	4	593	c.493C>G	c.(493-495)Caa>Gaa	p.Q165E		NM_032683.2	NP_116072.2	Q567V2	M17L2_HUMAN	MPV17 mitochondrial membrane protein-like 2	165						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				large_intestine(1)|lung(2)|urinary_tract(1)	4						CGTGCCCCCCCAATTTCGAGT	0.642																																							uc002nid.2		NA																	0					0						c.(493-495)CAA>GAA		MPV17 mitochondrial membrane protein-like 2							110.0	111.0	111.0					19																	18305825		2078	4213	6291	SO:0001583	missense	84769					integral to membrane		g.chr19:18305825C>G	AK094091	CCDS42522.1	19p13.11	2011-05-26			ENSG00000254858	ENSG00000254858			28177	protein-coding gene	gene with protein product						12477932	Standard	NM_032683		Approved	FKSG24, MGC12972	uc002nid.3	Q567V2	OTTHUMG00000165628	ENST00000599612.2:c.493C>G	19.37:g.18305825C>G	ENSP00000469836:p.Gln165Glu					MPV17L2_uc010ebj.2_Missense_Mutation_p.P75R	p.Q165E	NM_032683	NP_116072	Q567V2	M17L2_HUMAN			4	545	+			165					Q96P34|Q96QA0|Q9BSG4	Missense_Mutation	SNP	ENST00000599612.2	37	c.493C>G	CCDS42522.1	.	.	.	.	.	.	.	.	.	.	c	14.06	2.422305	0.43020	.	.	ENSG00000254858	ENST00000534474;ENST00000247712	D	0.85861	-2.04	4.26	4.26	0.50523	.	0.376195	0.28914	N	0.013739	T	0.71195	0.3311	N	0.25286	0.73	0.24042	N	0.996079	B	0.15719	0.014	B	0.20384	0.029	T	0.52756	-0.8533	10	0.09843	T	0.71	.	7.8869	0.29655	0.179:0.6471:0.1739:0.0	.	165	Q567V2	M17L2_HUMAN	E	140;165	ENSP00000247712:Q165E	ENSP00000247712:Q165E	Q	+	1	0	MPV17L2	18166825	1.000000	0.71417	0.999000	0.59377	0.940000	0.58332	3.346000	0.52190	2.092000	0.63282	0.455000	0.32223	CAA		0.642	MPV17L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466294.2	NM_032683		6	245	0	0	0	0.001984	0	6	245				
KIAA1683	80726	broad.mit.edu	37	19	18368153	18368153	+	Missense_Mutation	SNP	A	A	C			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr19:18368153A>C	ENST00000600328.3	-	4	3573	c.3380T>G	c.(3379-3381)tTt>tGt	p.F1127C	PDE4C_ENST00000596647.1_5'Flank|KIAA1683_ENST00000392413.4_Missense_Mutation_p.F1314C|PDE4C_ENST00000355502.3_5'Flank|KIAA1683_ENST00000600359.3_Missense_Mutation_p.F1081C			Q9H0B3	K1683_HUMAN	KIAA1683	1127	IQ 5. {ECO:0000255|PROSITE- ProRule:PRU00116}.					mitochondrion (GO:0005739)|nucleus (GO:0005634)				breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						GCGGATCTTAAAGCCCCTCCA	0.622																																							uc002nin.2		NA																	0				ovary(2)	2						c.(3379-3381)TTT>TGT		KIAA1683 isoform b							59.0	55.0	56.0					19																	18368153		2203	4300	6503	SO:0001583	missense	80726					mitochondrion		g.chr19:18368153A>C	AB051470	CCDS32958.1, CCDS46017.1, CCDS46018.1	19p13.1	2008-02-05				ENSG00000130518			29350	protein-coding gene	gene with protein product						11214970, 11230166	Standard	NM_025249		Approved		uc010ebn.2	Q9H0B3		ENST00000600328.3:c.3380T>G	19.37:g.18368153A>C	ENSP00000470780:p.Phe1127Cys					PDE4C_uc002nil.3_5'Flank|KIAA1683_uc010ebn.2_Missense_Mutation_p.F1314C|KIAA1683_uc010xqe.1_Missense_Mutation_p.F1081C|KIAA1683_uc010xqf.1_RNA	p.F1127C	NM_025249	NP_079525	Q9H0B3	K1683_HUMAN			4	3596	-			1127			IQ 5.		B4DYH2|E9PDE0|E9PH54|Q2KHR5|Q8N4G8|Q96M14|Q9C0I0	Missense_Mutation	SNP	ENST00000600328.3	37	c.3380T>G	CCDS32958.1	.	.	.	.	.	.	.	.	.	.	A	9.879	1.201022	0.22121	.	.	ENSG00000130518	ENST00000392413;ENST00000359737;ENST00000427634;ENST00000392412;ENST00000358422;ENST00000411671	T;T;T	0.28895	1.59;1.59;1.59	4.7	0.966	0.19667	.	0.681446	0.12171	N	0.492987	T	0.45458	0.1343	L	0.53617	1.68	0.09310	N	1	D;D	0.89917	1.0;0.999	D;D	0.72982	0.979;0.969	T	0.23797	-1.0178	10	0.59425	D	0.04	-14.2171	7.9091	0.29780	0.3421:0.0:0.0:0.6579	.	1314;1127	E9PDE0;Q9H0B3	.;K1683_HUMAN	C	1314;1127;1081;391;512;741	ENSP00000376213:F1314C;ENSP00000352774:F1127C;ENSP00000404501:F1081C	ENSP00000351198:F512C	F	-	2	0	KIAA1683	18229153	0.044000	0.20184	0.154000	0.22540	0.002000	0.02628	0.402000	0.20965	0.128000	0.18479	0.379000	0.24179	TTT		0.622	KIAA1683-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000466312.3			12	96	0	0	0	0.004007	0	12	96				
FKBP8	23770	broad.mit.edu	37	19	18649221	18649221	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr19:18649221C>A	ENST00000596558.2	-	5	683	c.574G>T	c.(574-576)Gcg>Tcg	p.A192S	FKBP8_ENST00000597960.3_Missense_Mutation_p.A193S|FKBP8_ENST00000608443.1_Missense_Mutation_p.A193S|AC005387.2_ENST00000596596.1_RNA|FKBP8_ENST00000453489.2_Missense_Mutation_p.A221S|FKBP8_ENST00000610101.1_Intron|FKBP8_ENST00000222308.4_Missense_Mutation_p.A192S			Q14318	FKBP8_HUMAN	FK506 binding protein 8, 38kDa	192	PPIase FKBP-type. {ECO:0000255|PROSITE- ProRule:PRU00277}.				apoptotic process (GO:0006915)|camera-type eye development (GO:0043010)|cell fate specification (GO:0001708)|chaperone-mediated protein folding (GO:0061077)|dorsal/ventral neural tube patterning (GO:0021904)|intracellular signal transduction (GO:0035556)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|positive regulation of BMP signaling pathway (GO:0030513)|protein peptidyl-prolyl isomerization (GO:0000413)|regulation of gene expression (GO:0010468)|smoothened signaling pathway (GO:0007224)|viral process (GO:0016032)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|mitochondrial envelope (GO:0005740)	FK506 binding (GO:0005528)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)	15						CACAGGGCCGCGTGCGGGGGG	0.682																																							uc002njk.1		NA																	0				ovary(1)	1						c.(574-576)GCG>TCG		FK506-binding protein 8							17.0	19.0	18.0					19																	18649221		2199	4293	6492	SO:0001583	missense	23770				apoptosis|interspecies interaction between organisms|intracellular signal transduction|protein folding	integral to endoplasmic reticulum membrane|mitochondrial membrane	FK506 binding|peptidyl-prolyl cis-trans isomerase activity|protein binding	g.chr19:18649221C>A	L37033	CCDS32961.1	19p12	2013-01-10	2002-08-29		ENSG00000105701	ENSG00000105701		"""Tetratricopeptide (TTC) repeat domain containing"""	3724	protein-coding gene	gene with protein product	"""FK506-binding protein 8 (38kD)"""	604840	"""FK506-binding protein 8 (38kD)"""			7543869	Standard	NM_012181		Approved	FKBP38, FKBPr38	uc002njj.1	Q14318		ENST00000596558.2:c.574G>T	19.37:g.18649221C>A	ENSP00000472302:p.Ala192Ser					FKBP8_uc002nji.1_Missense_Mutation_p.A30S|FKBP8_uc010xqi.1_Missense_Mutation_p.A221S|FKBP8_uc002njj.1_Missense_Mutation_p.A193S|FKBP8_uc002njl.1_Missense_Mutation_p.A193S|FKBP8_uc002njm.1_Missense_Mutation_p.A192S|FKBP8_uc010ebr.1_Missense_Mutation_p.A31S|FKBP8_uc002njn.2_RNA	p.A192S	NM_012181	NP_036313	Q14318	FKBP8_HUMAN			5	687	-			192			PPIase FKBP-type.		C8C9T5|Q53GU3|Q7Z349|Q86YK6	Missense_Mutation	SNP	ENST00000596558.2	37	c.574G>T		.	.	.	.	.	.	.	.	.	.	C	13.62	2.290170	0.40494	.	.	ENSG00000105701	ENST00000222308;ENST00000453489	T;T	0.55930	0.49;0.49	4.04	2.93	0.34026	Peptidyl-prolyl cis-trans isomerase, FKBP-type, domain (2);	0.288882	0.33180	N	0.005181	T	0.51363	0.1670	N	0.17564	0.495	0.80722	D	1	P;P;P;P	0.46952	0.581;0.768;0.785;0.887	P;D;P;P	0.63488	0.53;0.915;0.717;0.609	T	0.47071	-0.9145	10	0.33141	T	0.24	-28.7542	11.2283	0.48897	0.2765:0.7235:0.0:0.0	.	221;136;192;193	B7Z6M0;B2R8G6;Q14318;Q14318-2	.;.;FKBP8_HUMAN;.	S	193;221	ENSP00000222308:A193S;ENSP00000388891:A221S	ENSP00000222308:A193S	A	-	1	0	FKBP8	18510221	0.875000	0.30112	0.835000	0.33067	0.683000	0.39861	1.382000	0.34374	2.078000	0.62432	0.561000	0.74099	GCG		0.682	FKBP8-002	KNOWN	alternative_5_UTR|NAGNAG_splice_site|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000466374.3	NM_012181		10	46	1	0	4.68919e-08	0.008291	5.51444e-08	10	46				
CRLF1	9244	broad.mit.edu	37	19	18710436	18710436	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr19:18710436G>T	ENST00000392386.3	-	2	529	c.336C>A	c.(334-336)gaC>gaA	p.D112E		NM_004750.4	NP_004741.1	O75462	CRLF1_HUMAN	cytokine receptor-like factor 1	112	Ig-like C2-type.				negative regulation of motor neuron apoptotic process (GO:2000672)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of cell proliferation (GO:0008284)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|ureteric bud development (GO:0001657)	CRLF-CLCF1 complex (GO:0097058)|extracellular space (GO:0005615)	cytokine binding (GO:0019955)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)	9						ACACGAGGTTGTCCCCCGACC	0.672																																							uc010ebt.1		NA																	0				central_nervous_system(1)	1						c.(334-336)GAC>GAA		cytokine receptor-like factor 1 precursor							32.0	32.0	32.0					19																	18710436		2203	4300	6503	SO:0001583	missense	9244				negative regulation of neuron apoptosis|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of Stat3 protein	extracellular space	cytokine binding|protein heterodimerization activity|receptor activity	g.chr19:18710436G>T	AF059293	CCDS32962.1	19p12	2013-02-11				ENSG00000006016		"""Fibronectin type III domain containing"""	2364	protein-coding gene	gene with protein product	"""cold-induced sweating syndrome"""	604237				9686600	Standard	NM_004750		Approved	CLF-1, CLF, CISS, CISS1	uc010ebt.2	O75462		ENST00000392386.3:c.336C>A	19.37:g.18710436G>T	ENSP00000376188:p.Asp112Glu						p.D112E	NM_004750	NP_004741	O75462	CRLF1_HUMAN			2	530	-			112			Ig-like C2-type.		Q9UHH5	Missense_Mutation	SNP	ENST00000392386.3	37	c.336C>A	CCDS32962.1	.	.	.	.	.	.	.	.	.	.	G	16.20	3.055362	0.55325	.	.	ENSG00000006016	ENST00000392386	D	0.85484	-1.99	5.23	5.23	0.72850	Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.86389	0.5921	L	0.32530	0.975	0.45205	D	0.998212	D	0.64830	0.994	D	0.72625	0.978	D	0.83794	0.0232	10	0.28530	T	0.3	-49.5472	10.9534	0.47343	0.0874:0.0:0.9126:0.0	.	112	O75462	CRLF1_HUMAN	E	112	ENSP00000376188:D112E	ENSP00000376188:D112E	D	-	3	2	CRLF1	18571436	1.000000	0.71417	1.000000	0.80357	0.836000	0.47400	3.092000	0.50207	2.449000	0.82847	0.511000	0.50034	GAC		0.672	CRLF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465129.1			11	58	1	0	9.70103e-10	0.008291	1.1908e-09	11	58				
CRLF1	9244	broad.mit.edu	37	19	18710443	18710443	+	Nonsense_Mutation	SNP	G	G	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr19:18710443G>T	ENST00000392386.3	-	2	522	c.329C>A	c.(328-330)tCg>tAg	p.S110*		NM_004750.4	NP_004741.1	O75462	CRLF1_HUMAN	cytokine receptor-like factor 1	110	Ig-like C2-type.				negative regulation of motor neuron apoptotic process (GO:2000672)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of cell proliferation (GO:0008284)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|ureteric bud development (GO:0001657)	CRLF-CLCF1 complex (GO:0097058)|extracellular space (GO:0005615)	cytokine binding (GO:0019955)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)	p.S110*(1)		central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)	9						GTTGTCCCCCGACCGCTGCCT	0.672																																							uc010ebt.1		NA																	1	Substitution - Nonsense(1)		lung(1)	central_nervous_system(1)	1						c.(328-330)TCG>TAG		cytokine receptor-like factor 1 precursor							30.0	30.0	30.0					19																	18710443		2203	4300	6503	SO:0001587	stop_gained	9244				negative regulation of neuron apoptosis|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of Stat3 protein	extracellular space	cytokine binding|protein heterodimerization activity|receptor activity	g.chr19:18710443G>T	AF059293	CCDS32962.1	19p12	2013-02-11				ENSG00000006016		"""Fibronectin type III domain containing"""	2364	protein-coding gene	gene with protein product	"""cold-induced sweating syndrome"""	604237				9686600	Standard	NM_004750		Approved	CLF-1, CLF, CISS, CISS1	uc010ebt.2	O75462		ENST00000392386.3:c.329C>A	19.37:g.18710443G>T	ENSP00000376188:p.Ser110*						p.S110*	NM_004750	NP_004741	O75462	CRLF1_HUMAN			2	523	-			110			Ig-like C2-type.		Q9UHH5	Nonsense_Mutation	SNP	ENST00000392386.3	37	c.329C>A	CCDS32962.1	.	.	.	.	.	.	.	.	.	.	G	38	6.899462	0.97920	.	.	ENSG00000006016	ENST00000392386	.	.	.	5.23	5.23	0.72850	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07175	T	0.84	-14.8055	17.3617	0.87353	0.0:0.0:1.0:0.0	.	.	.	.	X	110	.	ENSP00000376188:S110X	S	-	2	0	CRLF1	18571443	1.000000	0.71417	0.947000	0.38551	0.798000	0.45092	8.931000	0.92884	2.449000	0.82847	0.511000	0.50034	TCG		0.672	CRLF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465129.1			11	49	1	0	1.08611e-07	0.000978	1.26254e-07	11	49				
TMEM59L	25789	broad.mit.edu	37	19	18727850	18727850	+	Missense_Mutation	SNP	G	G	A	rs61731609		TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr19:18727850G>A	ENST00000600490.1	+	6	787	c.602G>A	c.(601-603)cGt>cAt	p.R201H	TMEM59L_ENST00000262817.3_Missense_Mutation_p.R201H			Q9UK28	TM59L_HUMAN	transmembrane protein 59-like	201						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(2)	13						CAGGGGGGCCGTCTGCAGCGC	0.642													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17190	0.0		0.0	False		,,,				2504	0.0						uc002njy.3		NA																	0				ovary(2)|skin(2)	4						c.(601-603)CGT>CAT		brain-specific membrane-anchored protein		G	HIS/ARG	0,4406		0,0,2203	69.0	71.0	70.0		602	-3.1	0.0	19	dbSNP_129	70	18,8582	12.6+/-44.7	0,18,4282	yes	missense	TMEM59L	NM_012109.2	29	0,18,6485	AA,AG,GG		0.2093,0.0,0.1384	benign	201/343	18727850	18,12988	2203	4300	6503	SO:0001583	missense	25789					Golgi membrane|integral to membrane|membrane fraction		g.chr19:18727850G>A	AF186264	CCDS12383.1	19p12	2008-02-05	2007-03-14	2007-03-14		ENSG00000105696			13237	protein-coding gene	gene with protein product			"""chromosome 19 open reading frame 4"""	C19orf4		10527841	Standard	NM_012109		Approved	BSMAP	uc002njy.4	Q9UK28		ENST00000600490.1:c.602G>A	19.37:g.18727850G>A	ENSP00000470879:p.Arg201His					TMEM59L_uc010ebu.1_Missense_Mutation_p.R201H	p.R201H	NM_012109	NP_036241	Q9UK28	TM59L_HUMAN			5	689	+			201						Missense_Mutation	SNP	ENST00000600490.1	37	c.602G>A	CCDS12383.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	10.02	1.235997	0.22626	0.0	0.002093	ENSG00000105696	ENST00000262817	T	0.46819	0.86	3.23	-3.11	0.05299	.	0.462574	0.23589	N	0.046573	T	0.20901	0.0503	N	0.08118	0	0.09310	N	0.999995	B	0.14012	0.009	B	0.06405	0.002	T	0.12066	-1.0562	10	0.30854	T	0.27	-3.1537	8.749	0.34605	0.5289:0.0:0.4711:0.0	rs61731609	201	Q9UK28	TM59L_HUMAN	H	201	ENSP00000262817:R201H	ENSP00000262817:R201H	R	+	2	0	TMEM59L	18588850	0.000000	0.05858	0.040000	0.18447	0.654000	0.38779	-0.998000	0.03701	-0.514000	0.06488	-0.657000	0.03884	CGT		0.642	TMEM59L-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465143.2			20	172	0	0	0	0.001882	0	20	172				
NCAN	1463	broad.mit.edu	37	19	19349079	19349079	+	Missense_Mutation	SNP	C	C	T	rs200250416		TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr19:19349079C>T	ENST00000252575.6	+	11	3367	c.3268C>T	c.(3268-3270)Cgc>Tgc	p.R1090C	NCAN_ENST00000538881.1_Missense_Mutation_p.R541C	NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	neurocan	1090	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|regulation of synapse structural plasticity (GO:0051823)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|hyaluronic acid binding (GO:0005540)			breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)		Hyaluronan(DB08818)	GGGCTGTGACCGCGGCTGGCA	0.657																																							uc002nlz.2		NA																	0				ovary(4)	4						c.(3268-3270)CGC>TGC		chondroitin sulfate proteoglycan 3 precursor							52.0	54.0	53.0					19																	19349079		2203	4300	6503	SO:0001583	missense	1463				axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding	g.chr19:19349079C>T	AF026547	CCDS12397.1	19p12	2014-01-30	2007-02-15	2007-02-15	ENSG00000130287	ENSG00000130287		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"", ""Endogenous ligands"""	2465	protein-coding gene	gene with protein product	"""neurocan proteoglycan"""	600826	"""chondroitin sulfate proteoglycan 3"""	CSPG3		1326557, 21353194	Standard	NM_004386		Approved		uc002nlz.3	O14594		ENST00000252575.6:c.3268C>T	19.37:g.19349079C>T	ENSP00000252575:p.Arg1090Cys					NCAN_uc010ecc.1_Missense_Mutation_p.R654C|NCAN_uc002nma.2_5'Flank	p.R1090C	NM_004386	NP_004377	O14594	NCAN_HUMAN	Epithelial(12;0.00544)		11	3367	+			1090			C-type lectin.		Q9UPK6	Missense_Mutation	SNP	ENST00000252575.6	37	c.3268C>T	CCDS12397.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.083297	0.76642	.	.	ENSG00000130287	ENST00000539499;ENST00000252575;ENST00000538881	T;T	0.17528	2.27;2.27	4.75	4.75	0.60458	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (1);	0.395872	0.18712	N	0.133272	T	0.28101	0.0693	L	0.35542	1.07	0.52501	D	0.999956	D;D	0.89917	1.0;0.999	P;P	0.60609	0.877;0.732	T	0.01156	-1.1434	10	0.49607	T	0.09	.	15.3064	0.73995	0.0:1.0:0.0:0.0	.	1104;1090	Q4LE67;O14594	.;NCAN_HUMAN	C	1104;1090;541	ENSP00000252575:R1090C;ENSP00000442202:R541C	ENSP00000252575:R1090C	R	+	1	0	NCAN	19210079	0.950000	0.32346	0.955000	0.39395	0.697000	0.40408	2.378000	0.44309	2.464000	0.83262	0.561000	0.74099	CGC		0.657	NCAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460111.2	NM_004386		64	90	0	0	0	0.00361	0	64	90				
ZNF708	7562	broad.mit.edu	37	19	21476519	21476519	+	Missense_Mutation	SNP	T	T	C			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr19:21476519T>C	ENST00000356929.3	-	4	1446	c.1249A>G	c.(1249-1251)Aag>Gag	p.K417E		NM_021269.2	NP_067092.2	P17019	ZN708_HUMAN	zinc finger protein 708	353					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(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(2)|stomach(1)	32						TAGGGTTTCTTTCCAGTATGA	0.343																																							uc002npq.1		NA																	0				central_nervous_system(4)|skin(2)	6						c.(1249-1251)AAG>GAG		zinc finger protein 708							51.0	55.0	53.0					19																	21476519		2200	4298	6498	SO:0001583	missense	7562				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:21476519T>C	X52339	CCDS32980.1	19p12	2014-02-14	2006-08-22	2005-08-16	ENSG00000182141	ENSG00000182141		"""Zinc fingers, C2H2-type"", ""-"""	12945	protein-coding gene	gene with protein product			"""zinc finger protein 15-like 1 (KOX 8)"", ""zinc finger protein 708"", ""zinc finger protein 708 (KOX8)"""	ZNF15, ZNF15L1		2014798	Standard	NM_021269		Approved	KOX8	uc002npq.1	P17019	OTTHUMG00000182841	ENST00000356929.3:c.1249A>G	19.37:g.21476519T>C	ENSP00000349401:p.Lys417Glu					ZNF708_uc002npr.1_Missense_Mutation_p.K353E|ZNF708_uc010ecs.1_Missense_Mutation_p.K353E	p.K417E	NM_021269	NP_067092	P17019	ZN708_HUMAN			4	1447	-			417					Q6ZMR0	Missense_Mutation	SNP	ENST00000356929.3	37	c.1249A>G	CCDS32980.1	.	.	.	.	.	.	.	.	.	.	.	0.007	-2.010251	0.00426	.	.	ENSG00000182141	ENST00000356929	T	0.12672	2.66	1.05	-2.1	0.07210	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03178	0.0093	N	0.01417	-0.88	0.23056	N	0.998366	B	0.02656	0.0	B	0.01281	0.0	T	0.38542	-0.9656	9	0.02654	T	1	.	7.3011	0.26422	0.0:0.6317:0.0:0.3683	.	417	P17019	ZN708_HUMAN	E	417	ENSP00000349401:K417E	ENSP00000349401:K417E	K	-	1	0	ZNF708	21268359	0.000000	0.05858	0.077000	0.20336	0.069000	0.16628	-0.024000	0.12435	-1.351000	0.02197	-1.371000	0.01190	AAG		0.343	ZNF708-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463953.1	NM_021269		4	55	0	0	0	0.009096	0	4	55				
ZNF208	7757	broad.mit.edu	37	19	22156743	22156743	+	Nonsense_Mutation	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr19:22156743C>A	ENST00000397126.4	-	4	1241	c.1093G>T	c.(1093-1095)Gga>Tga	p.G365*	ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron	NM_007153.3	NP_009084.2	O43345	ZN208_HUMAN	zinc finger protein 208	365					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				GGTTTCTCTCCAGTATGAATT	0.388																																							uc002nqp.2		NA																	0				ovary(5)|skin(2)	7						c.(1093-1095)GGA>TGA		zinc finger protein 208							35.0	38.0	37.0					19																	22156743		2041	4208	6249	SO:0001587	stop_gained	7757							g.chr19:22156743C>A	BC038199	CCDS54240.1	19p12	2013-01-08				ENSG00000160321		"""Zinc fingers, C2H2-type"", ""-"""	12999	protein-coding gene	gene with protein product	"""zinc finger protein 95"""	603977				9724325	Standard	NM_007153		Approved	PMIDP, ZNF95	uc021urr.1	O43345		ENST00000397126.4:c.1093G>T	19.37:g.22156743C>A	ENSP00000380315:p.Gly365*					ZNF208_uc002nqo.1_Intron|ZNF208_uc010ecw.1_5'Flank	p.G365*	NM_007153	NP_009084					4	1242	-		all_lung(12;0.0961)|Lung NSC(12;0.103)							Nonsense_Mutation	SNP	ENST00000397126.4	37	c.1093G>T	CCDS54240.1	.	.	.	.	.	.	.	.	.	.	C	16.74	3.207387	0.58343	.	.	ENSG00000160321	ENST00000397126;ENST00000428290	.	.	.	2.65	1.56	0.23342	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	8.3095	0.32062	0.0:0.8685:0.0:0.1315	.	.	.	.	X	365	.	ENSP00000380315:G365X	G	-	1	0	ZNF208	21948583	0.004000	0.15560	0.001000	0.08648	0.019000	0.09904	0.796000	0.26986	0.115000	0.18071	0.306000	0.20318	GGA		0.388	ZNF208-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464302.1	NM_007153		13	63	1	0	1.49906e-05	0.00245	1.66214e-05	13	63				
ZNF257	113835	broad.mit.edu	37	19	22271347	22271347	+	Silent	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr19:22271347C>A	ENST00000594947.1	+	4	939	c.795C>A	c.(793-795)gcC>gcA	p.A265A		NM_033468.2	NP_258429.2	Q9Y2Q1	ZN257_HUMAN	zinc finger protein 257	265					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(2)|lung(4)	6		all_lung(12;0.0961)|Lung NSC(12;0.103)				GTGGCAAAGCCTTTAACCGGT	0.388																																							uc010ecx.2		NA																	0					0						c.(793-795)GCC>GCA		zinc finger protein 257							41.0	44.0	43.0					19																	22271347		2091	4257	6348	SO:0001819	synonymous_variant	113835				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:22271347C>A	AF070651	CCDS46030.1	19p12	2014-02-14			ENSG00000197134	ENSG00000197134		"""Zinc fingers, C2H2-type"", ""-"""	13498	protein-coding gene	gene with protein product		606957				10585455	Standard	NM_033468		Approved	BMZF-4	uc010ecx.3	Q9Y2Q1	OTTHUMG00000182927	ENST00000594947.1:c.795C>A	19.37:g.22271347C>A						ZNF257_uc010ecy.2_Silent_p.A233A	p.A265A	NM_033468	NP_258429	Q9Y2Q1	ZN257_HUMAN			4	964	+		all_lung(12;0.0961)|Lung NSC(12;0.103)	265			C2H2-type 4.		B3KPS4|E9PG34|Q8NE34	Silent	SNP	ENST00000594947.1	37	c.795C>A	CCDS46030.1																																																																																				0.388	ZNF257-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464382.1			25	16	1	0	3.69857e-22	0.008361	5.42421e-22	25	16				
ZNF91	7644	broad.mit.edu	37	19	23542980	23542980	+	Missense_Mutation	SNP	C	C	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr19:23542980C>T	ENST00000300619.7	-	4	3006	c.2801G>A	c.(2800-2802)gGa>gAa	p.G934E	ZNF91_ENST00000397082.2_Missense_Mutation_p.G902E|ZNF91_ENST00000596528.1_5'Flank|ZNF91_ENST00000599743.1_Intron	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91	934					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)				GGGTTTCTCTCCAGTGTGCAT	0.398																																							uc002nre.2		NA																	0					0						c.(2800-2802)GGA>GAA		zinc finger protein 91							62.0	65.0	64.0					19																	23542980		2180	4288	6468	SO:0001583	missense	7644					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:23542980C>T	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.2801G>A	19.37:g.23542980C>T	ENSP00000300619:p.Gly934Glu					ZNF91_uc002nrd.2_5'Flank|ZNF91_uc010xrj.1_Missense_Mutation_p.G902E	p.G934E	NM_003430	NP_003421	Q05481	ZNF91_HUMAN			4	2914	-		all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)	934					A8K5E1|B7Z6G6	Missense_Mutation	SNP	ENST00000300619.7	37	c.2801G>A	CCDS42541.1	.	.	.	.	.	.	.	.	.	.	C	14.86	2.660174	0.47572	.	.	ENSG00000167232	ENST00000300619;ENST00000397082	T;T	0.01599	4.74;4.74	1.34	1.34	0.21922	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04272	0.0118	L	0.41632	1.29	0.37088	D	0.899328	D;D	0.69078	0.997;0.993	P;P	0.60415	0.461;0.874	T	0.51687	-0.8674	9	0.66056	D	0.02	.	9.5501	0.39304	0.0:1.0:0.0:0.0	.	902;934	Q05481-2;Q05481	.;ZNF91_HUMAN	E	934;902	ENSP00000300619:G934E;ENSP00000380272:G902E	ENSP00000300619:G934E	G	-	2	0	ZNF91	23334820	0.470000	0.25854	0.024000	0.17045	0.042000	0.13812	1.443000	0.35057	0.682000	0.31407	0.205000	0.17691	GGA		0.398	ZNF91-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465891.1	NM_003430		12	115	0	0	0	0.00499	0	12	115				
ZNF536	9745	broad.mit.edu	37	19	30935569	30935569	+	Missense_Mutation	SNP	A	A	G			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr19:30935569A>G	ENST00000355537.3	+	2	1247	c.1100A>G	c.(1099-1101)cAc>cGc	p.H367R		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	367					negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|retinoic acid-responsive element binding (GO:0044323)			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					ATGCGCAAGCACAAAGACTCC	0.612																																							uc002nsu.1		NA																	0				ovary(7)|large_intestine(2)|skin(2)	11						c.(1099-1101)CAC>CGC		zinc finger protein 536							95.0	100.0	99.0					19																	30935569		2203	4300	6503	SO:0001583	missense	9745				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr19:30935569A>G		CCDS32984.1	19q13.11	2013-01-08				ENSG00000198597		"""Zinc fingers, C2H2-type"""	29025	protein-coding gene	gene with protein product						9205841	Standard	XM_005259445		Approved	KIAA0390	uc002nsu.1	O15090		ENST00000355537.3:c.1100A>G	19.37:g.30935569A>G	ENSP00000347730:p.His367Arg					ZNF536_uc010edd.1_Missense_Mutation_p.H367R	p.H367R	NM_014717	NP_055532	O15090	ZN536_HUMAN			2	1238	+	Esophageal squamous(110;0.0834)		367			C2H2-type 5.		A2RU18	Missense_Mutation	SNP	ENST00000355537.3	37	c.1100A>G	CCDS32984.1	.	.	.	.	.	.	.	.	.	.	A	14.44	2.535957	0.45176	.	.	ENSG00000198597	ENST00000355537	D	0.81908	-1.55	5.41	5.41	0.78517	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.92034	0.7476	M	0.87381	2.88	0.54753	D	0.999986	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.93432	0.6786	10	0.87932	D	0	-27.8899	15.4312	0.75102	1.0:0.0:0.0:0.0	.	367;367	A7E228;O15090	.;ZN536_HUMAN	R	367	ENSP00000347730:H367R	ENSP00000347730:H367R	H	+	2	0	ZNF536	35627409	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.302000	0.96175	2.041000	0.60428	0.402000	0.26972	CAC		0.612	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459667.2	NM_014717		35	146	0	0	0	0.00623	0	35	146				
CD22	933	broad.mit.edu	37	19	35823583	35823583	+	Silent	SNP	C	C	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr19:35823583C>T	ENST00000085219.5	+	3	234	c.168C>T	c.(166-168)ttC>ttT	p.F56F	CD22_ENST00000341773.6_Silent_p.F56F|CD22_ENST00000536635.2_Silent_p.F56F|U62631.5_ENST00000597110.1_RNA|CD22_ENST00000595419.1_3'UTR|CD22_ENST00000544992.2_Silent_p.F56F|CD22_ENST00000270311.6_5'UTR|CD22_ENST00000594250.1_Silent_p.F56F|CD22_ENST00000419549.2_5'UTR	NM_001771.3	NP_001762.2	P20273	CD22_HUMAN	CD22 molecule	56	Ig-like V-type.				cell adhesion (GO:0007155)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)			breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	54	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			TGGAAAGCTTCATCCTGTTCC	0.512																																					Ovarian(42;1009 1133 23674 26041)	Ovarian(42;1009 1133 23674 26041)	uc010edt.2		NA																	0				ovary(5)|lung(3)|breast(1)	9						c.(166-168)TTC>TTT		CD22 molecule precursor	OspA lipoprotein(DB00045)						87.0	86.0	86.0					19																	35823583		2203	4300	6503	SO:0001819	synonymous_variant	933				cell adhesion		protein binding|sugar binding	g.chr19:35823583C>T	X52785	CCDS12457.1, CCDS54247.1, CCDS54248.1, CCDS54249.1, CCDS62634.1	19q13.1	2013-01-29	2006-03-28		ENSG00000012124	ENSG00000012124		"""CD molecules"", ""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1643	protein-coding gene	gene with protein product	"""sialic acid binding Ig-like lectin 2"""	107266	"""CD22 antigen"""			8496602, 1691828	Standard	NM_001185099		Approved	SIGLEC-2, SIGLEC2	uc010edt.3	P20273		ENST00000085219.5:c.168C>T	19.37:g.35823583C>T						CD22_uc010xst.1_5'UTR|CD22_uc010edu.2_Silent_p.F56F|CD22_uc010edv.2_Silent_p.F56F|CD22_uc002nzb.3_Silent_p.F56F	p.F56F	NM_001771	NP_001762	P20273	CD22_HUMAN	Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)		3	245	+	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		56			Extracellular (Potential).|Ig-like V-type.		F5GYU4|F5H7U3|O95699|O95701|O95702|O95703|Q01665|Q32M46|Q92872|Q92873|Q9UQA6|Q9UQA7|Q9UQA8|Q9UQA9|Q9UQB0|Q9Y2A6	Silent	SNP	ENST00000085219.5	37	c.168C>T	CCDS12457.1																																																																																				0.512	CD22-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466099.1	NM_001771		16	125	0	0	0	0.00278	0	16	125				
KMT2B	9757	broad.mit.edu	37	19	36220984	36220984	+	Missense_Mutation	SNP	G	G	C			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr19:36220984G>C	ENST00000222270.7	+	23	5034	c.5034G>C	c.(5032-5034)aaG>aaC	p.K1678N	KMT2B_ENST00000420124.1_Missense_Mutation_p.K1678N|KMT2B_ENST00000607650.1_RNA	NM_014727.1	NP_055542.1	Q9UMN6	KMT2B_HUMAN	lysine (K)-specific methyltransferase 2B	1678					chromatin-mediated maintenance of transcription (GO:0048096)|gene silencing (GO:0016458)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|oocyte differentiation (GO:0009994)|ovarian follicle development (GO:0001541)|ovulation (GO:0030728)|regulation of histone H3-K4 methylation (GO:0051569)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)										AGGATGACAAGAAAGTCTTCT	0.572																																							uc010eei.2		NA																	0				central_nervous_system(6)|breast(2)|ovary(1)|kidney(1)|skin(1)	11						c.(5032-5034)AAG>AAC		myeloid/lymphoid or mixed-lineage leukemia 4							54.0	58.0	57.0					19																	36220984		2089	4224	6313	SO:0001583	missense	9757				chromatin-mediated maintenance of transcription		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:36220984G>C	AJ007041	CCDS46055.1	19q13.1	2014-02-18			ENSG00000105663	ENSG00000272333		"""Chromatin-modifying enzymes / K-methyltransferases"""	15840	protein-coding gene	gene with protein product	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) 4"""	606834				10409430, 10637508	Standard	XM_006723513		Approved	KIAA0304, MLL2, TRX2, HRX2, WBP7, MLL1B, MLL4		Q9UMN6	OTTHUMG00000048119	ENST00000222270.7:c.5034G>C	19.37:g.36220984G>C	ENSP00000222270:p.Lys1678Asn						p.K1678N	NM_014727	NP_055542	Q9UMN6	MLL4_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		24	5034	+	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		1678					O15022|O95836|Q96GP2|Q96IP3|Q9UK25|Q9Y668|Q9Y669	Missense_Mutation	SNP	ENST00000222270.7	37	c.5034G>C	CCDS46055.1	.	.	.	.	.	.	.	.	.	.	G	13.92	2.381673	0.42207	.	.	ENSG00000105663	ENST00000222270;ENST00000420124	T;T	0.70869	-0.52;-0.52	5.37	4.34	0.51931	Zinc finger, PHD-type (1);	0.000000	0.47093	D	0.000251	T	0.79678	0.4487	M	0.63428	1.95	0.54753	D	0.999985	D	0.89917	1.0	D	0.77557	0.99	T	0.80781	-0.1229	10	0.87932	D	0	.	9.2261	0.37407	0.1647:0.0:0.8353:0.0	.	1678	Q9UMN6	MLL4_HUMAN	N	1678	ENSP00000222270:K1678N;ENSP00000398837:K1678N	ENSP00000222270:K1678N	K	+	3	2	AD000671.1	40912824	1.000000	0.71417	1.000000	0.80357	0.872000	0.50106	3.266000	0.51569	1.504000	0.48704	0.655000	0.94253	AAG		0.572	KMT2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_014727		4	17	0	0	0	0.000602	0	4	17				
KCNK6	9424	broad.mit.edu	37	19	38817411	38817411	+	Silent	SNP	G	G	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr19:38817411G>T	ENST00000263372.3	+	2	608	c.501G>T	c.(499-501)cgG>cgT	p.R167R		NM_004823.1	NP_004814.1	Q9Y257	KCNK6_HUMAN	potassium channel, subfamily K, member 6	167					negative regulation of systemic arterial blood pressure (GO:0003085)|potassium ion transport (GO:0006813)|regulation of resting membrane potential (GO:0060075)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	inward rectifier potassium channel activity (GO:0005242)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(3)	17	all_cancers(60;5.83e-07)		Lung(45;0.00047)|LUSC - Lung squamous cell carcinoma(53;0.000613)		Ibutilide(DB00308)|Quinidine(DB00908)	ACCCCCGGCGGGCGGCCTGCT	0.672																																							uc002oic.2		NA																	0				ovary(1)	1						c.(499-501)CGG>CGT		potassium channel, subfamily K, member 6	Ibutilide(DB00308)|Quinidine(DB00908)						49.0	51.0	50.0					19																	38817411		2203	4300	6503	SO:0001819	synonymous_variant	9424					voltage-gated potassium channel complex	inward rectifier potassium channel activity	g.chr19:38817411G>T	AF117708	CCDS12513.1	19q13.1	2012-03-07				ENSG00000099337		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6281	protein-coding gene	gene with protein product		603939				10075682, 10393428, 16382106	Standard	NM_004823		Approved	K2p6.1, TWIK-2	uc002oic.3	Q9Y257		ENST00000263372.3:c.501G>T	19.37:g.38817411G>T						KCNK6_uc002oid.2_Silent_p.R33R	p.R167R	NM_004823	NP_004814	Q9Y257	KCNK6_HUMAN	Lung(45;0.00047)|LUSC - Lung squamous cell carcinoma(53;0.000613)		2	611	+	all_cancers(60;5.83e-07)		167			Cytoplasmic (Potential).		Q9HB47	Silent	SNP	ENST00000263372.3	37	c.501G>T	CCDS12513.1																																																																																				0.672	KCNK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460524.1	NM_004823		19	68	1	0	2.94398e-08	0.007413	3.49468e-08	19	68				
FBXO27	126433	broad.mit.edu	37	19	39517606	39517606	+	Silent	SNP	G	G	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr19:39517606G>A	ENST00000292853.4	-	5	731	c.612C>T	c.(610-612)ctC>ctT	p.L204L	FBXO27_ENST00000600828.1_Silent_p.L203L|FBXO27_ENST00000509137.2_Silent_p.L204L	NM_178820.3	NP_849142.1	Q8NI29	FBX27_HUMAN	F-box protein 27	204	FBA. {ECO:0000255|PROSITE- ProRule:PRU00482}.					SCF ubiquitin ligase complex (GO:0019005)	glycoprotein binding (GO:0001948)			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|ovary(1)|urinary_tract(2)	17	all_cancers(60;3.79e-07)|all_lung(34;1.26e-07)|Lung NSC(34;1.46e-07)|all_epithelial(25;4.69e-07)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			GTTGGACGAGGAGTCTGTACA	0.562																																							uc002okh.2		NA																	0				ovary(1)	1						c.(610-612)CTC>CTT		F-box protein 27							164.0	154.0	158.0					19																	39517606		2203	4300	6503	SO:0001819	synonymous_variant	126433				protein catabolic process	SCF ubiquitin ligase complex	glycoprotein binding	g.chr19:39517606G>A	AF436061	CCDS12527.1	19q13.2	2008-02-05	2004-06-15			ENSG00000161243		"""F-boxes /  ""other"""""	18753	protein-coding gene	gene with protein product		609099	"""F-box only protein 27"""			126433	Standard	NM_178820		Approved	Fbg5, Fbx27	uc002okh.3	Q8NI29		ENST00000292853.4:c.612C>T	19.37:g.39517606G>A							p.L204L	NM_178820	NP_849142	Q8NI29	FBX27_HUMAN	Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)		5	694	-	all_cancers(60;3.79e-07)|all_lung(34;1.26e-07)|Lung NSC(34;1.46e-07)|all_epithelial(25;4.69e-07)|Ovarian(47;0.0454)		204			FBA.		Q96C87	Silent	SNP	ENST00000292853.4	37	c.612C>T	CCDS12527.1																																																																																				0.562	FBXO27-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000463281.1			113	80	0	0	0	0.00361	0	113	80				
LRFN1	57622	broad.mit.edu	37	19	39798904	39798904	+	Missense_Mutation	SNP	T	T	C			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr19:39798904T>C	ENST00000248668.4	-	2	1684	c.1685A>G	c.(1684-1686)tAt>tGt	p.Y562C		NM_020862.1	NP_065913.1	Q9P244	LRFN1_HUMAN	leucine rich repeat and fibronectin type III domain containing 1	562						cell junction (GO:0030054)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;1.96e-27)|all cancers(26;2.05e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)			CCCGTCGCCATACACCTTATA	0.657																																							uc002okw.2		NA																	0				ovary(2)	2						c.(1684-1686)TAT>TGT		leucine rich repeat and fibronectin type III							24.0	29.0	27.0					19																	39798904		2166	4278	6444	SO:0001583	missense	57622					cell junction|integral to membrane|postsynaptic density|postsynaptic membrane		g.chr19:39798904T>C	BC014678	CCDS46071.1	19q13.2	2013-02-11				ENSG00000128011		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	29290	protein-coding gene	gene with protein product		612807				10819331, 16828986	Standard	NM_020862		Approved	KIAA1484, SALM2	uc002okw.2	Q9P244		ENST00000248668.4:c.1685A>G	19.37:g.39798904T>C	ENSP00000248668:p.Tyr562Cys						p.Y562C	NM_020862	NP_065913	Q9P244	LRFN1_HUMAN	Epithelial(26;1.96e-27)|all cancers(26;2.05e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)		2	1685	-	all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		562			Cytoplasmic (Potential).		Q8TBS9	Missense_Mutation	SNP	ENST00000248668.4	37	c.1685A>G	CCDS46071.1	.	.	.	.	.	.	.	.	.	.	T	9.719	1.159132	0.21454	.	.	ENSG00000128011	ENST00000248668	T	0.61627	0.09	4.17	4.17	0.49024	.	0.439888	0.16812	N	0.198536	T	0.32823	0.0842	N	0.04090	-0.28	0.48087	D	0.99958	B	0.14438	0.01	B	0.16722	0.016	T	0.12372	-1.0550	10	0.16420	T	0.52	.	11.2394	0.48960	0.0:0.0:0.0:1.0	.	562	Q9P244	LRFN1_HUMAN	C	562	ENSP00000248668:Y562C	ENSP00000248668:Y562C	Y	-	2	0	LRFN1	44490744	1.000000	0.71417	0.996000	0.52242	0.921000	0.55340	4.588000	0.60999	1.768000	0.52137	0.379000	0.24179	TAT		0.657	LRFN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463835.1	NM_020862		4	34	0	0	0	0.001168	0	4	34				
FCGBP	8857	broad.mit.edu	37	19	40430340	40430340	+	Missense_Mutation	SNP	C	C	A	rs148563964		TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr19:40430340C>A	ENST00000221347.6	-	3	1610	c.1603G>T	c.(1603-1605)Gcc>Tcc	p.A535S		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	535	VWFD 1. {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)			TGGCTGTAGGCGCGCACAGTG	0.667																																							uc002omp.3		NA																	0				ovary(4)|skin(4)|central_nervous_system(1)	9						c.(1603-1605)GCC>TCC		Fc fragment of IgG binding protein precursor							49.0	41.0	44.0					19																	40430340		2203	4300	6503	SO:0001583	missense	8857					extracellular region	protein binding	g.chr19:40430340C>A	D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"""IgG Fc binding protein"", ""Human Fc gamma BP"""					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.1603G>T	19.37:g.40430340C>A	ENSP00000221347:p.Ala535Ser						p.A535S	NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)		3	1611	-	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		535			VWFD 1.		O95784	Missense_Mutation	SNP	ENST00000221347.6	37	c.1603G>T	CCDS12546.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.479769	0.84747	.	.	ENSG00000090920	ENST00000221347	T	0.58940	0.3	5.53	5.53	0.82687	von Willebrand factor, type D domain (3);	0.105878	0.37095	U	0.002255	T	0.73257	0.3564	L	0.59967	1.855	0.44668	D	0.997656	D	0.89917	1.0	D	0.77557	0.99	T	0.71626	-0.4536	10	0.42905	T	0.14	.	18.2443	0.89979	0.0:1.0:0.0:0.0	.	535	Q9Y6R7	FCGBP_HUMAN	S	535	ENSP00000221347:A535S	ENSP00000221347:A535S	A	-	1	0	FCGBP	45122180	1.000000	0.71417	0.960000	0.40013	0.425000	0.31504	7.267000	0.78462	2.608000	0.88229	0.561000	0.74099	GCC		0.667	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890		8	49	1	0	2.80697e-09	0.000978	3.38784e-09	8	49				
ZNF574	64763	broad.mit.edu	37	19	42583941	42583941	+	Missense_Mutation	SNP	C	C	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr19:42583941C>T	ENST00000600245.1	+	2	1838	c.1183C>T	c.(1183-1185)Cca>Tca	p.P395S	ZNF574_ENST00000222339.7_Missense_Mutation_p.P485S|ZNF574_ENST00000359044.4_Missense_Mutation_p.P395S|CTB-59C6.3_ENST00000594531.1_RNA			Q6ZN55	ZN574_HUMAN	zinc finger protein 574	395					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20		Prostate(69;0.059)				GCATTCATGTCCATGTGGGAA	0.592																																							uc002osm.3		NA																	0					0						c.(1183-1185)CCA>TCA		zinc finger protein 574							113.0	91.0	98.0					19																	42583941		2203	4300	6503	SO:0001583	missense	64763				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:42583941C>T	AK074788	CCDS12596.1	19q13.2	2013-09-20			ENSG00000105732	ENSG00000105732		"""Zinc fingers, C2H2-type"""	26166	protein-coding gene	gene with protein product						12477932	Standard	NM_022752		Approved	FLJ22059	uc002osm.4	Q6ZN55	OTTHUMG00000182751	ENST00000600245.1:c.1183C>T	19.37:g.42583941C>T	ENSP00000469029:p.Pro395Ser					ZNF574_uc002osk.3_Missense_Mutation_p.P485S	p.P395S	NM_022752	NP_073589	Q6ZN55	ZN574_HUMAN			2	1352	+		Prostate(69;0.059)	395			C2H2-type 8.		Q6IPE0|Q6ZN10|Q7L5Z5|Q8NCE3|Q9H6N0	Missense_Mutation	SNP	ENST00000600245.1	37	c.1183C>T	CCDS12596.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	9.119|9.119	1.008619|1.008619	0.19199|0.19199	.|.	.|.	ENSG00000105732|ENSG00000105732	ENST00000222339;ENST00000359044|ENST00000535775	T;T|.	0.34859|.	1.34;1.34|.	4.7|4.7	4.7|4.7	0.59300|0.59300	Zinc finger, C2H2-like (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);|.	0.462000|.	0.20959|.	N|.	0.082596|.	T|T	0.25531|0.25531	0.0621|0.0621	N|N	0.05487|0.05487	-0.04|-0.04	0.23331|0.23331	N|N	0.997893|0.997893	B;P|.	0.42248|.	0.292;0.774|.	B;B|.	0.36608|.	0.071;0.229|.	T|T	0.20874|0.20874	-1.0262|-1.0262	10|6	0.59425|0.87932	D|D	0.04|0	-16.1424|-16.1424	11.5053|11.5053	0.50463|0.50463	0.0:0.6987:0.3013:0.0|0.0:0.6987:0.3013:0.0	.|.	395;484|.	Q6ZN55;Q6ZN55-2|.	ZN574_HUMAN;.|.	S|F	485;395|2	ENSP00000222339:P485S;ENSP00000351939:P395S|.	ENSP00000222339:P485S|ENSP00000445515:S2F	P|S	+|+	1|2	0|0	ZNF574|ZNF574	47275781|47275781	0.084000|0.084000	0.21492|0.21492	0.993000|0.993000	0.49108|0.49108	0.892000|0.892000	0.51952|0.51952	-0.083000|-0.083000	0.11286|0.11286	2.434000|2.434000	0.82447|0.82447	0.645000|0.645000	0.84053|0.84053	CCA|TCC		0.592	ZNF574-002	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463458.1	NM_022752		22	75	0	0	0	0.00333	0	22	75				
POU2F2	5452	broad.mit.edu	37	19	42599776	42599776	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr19:42599776C>A	ENST00000526816.2	-	10	890	c.875G>T	c.(874-876)gGc>gTc	p.G292V	POU2F2_ENST00000529067.1_Missense_Mutation_p.G276V|POU2F2_ENST00000342301.4_Missense_Mutation_p.G292V|POU2F2_ENST00000529952.1_Missense_Mutation_p.G292V|POU2F2_ENST00000560398.1_Missense_Mutation_p.G298V|POU2F2_ENST00000533720.1_Missense_Mutation_p.G276V|POU2F2_ENST00000560558.1_Missense_Mutation_p.G237V|POU2F2_ENST00000389341.5_Missense_Mutation_p.G276V			P09086	PO2F2_HUMAN	POU class 2 homeobox 2	292					cell maturation (GO:0048469)|humoral immune response (GO:0006959)|immunoglobulin secretion involved in immune response (GO:0002380)|mature B cell differentiation (GO:0002335)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(1)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Prostate(69;0.059)			Dolutegravir(DB08930)	GCCGGGCAGGCCGTCGAAACC	0.627																																							uc002osp.2		NA																	0		p.V292V(1)		ovary(1)|skin(1)	2						c.(874-876)GGC>GTC		POU domain, class 2, transcription factor 2							24.0	27.0	26.0					19																	42599776		2203	4298	6501	SO:0001583	missense	5452				humoral immune response|transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr19:42599776C>A		CCDS33035.1, CCDS56094.1, CCDS56095.1, CCDS58665.1	19q13.2	2011-06-20	2007-07-13					"""Homeoboxes / POU class"""	9213	protein-coding gene	gene with protein product		164176	"""POU domain class 2, transcription factor 2"""	OTF2			Standard	NM_001207026		Approved	OCT2	uc002osp.3	P09086		ENST00000526816.2:c.875G>T	19.37:g.42599776C>A	ENSP00000431603:p.Gly292Val					POU2F2_uc002osn.2_Missense_Mutation_p.G276V|POU2F2_uc002oso.2_Missense_Mutation_p.G65V|POU2F2_uc002osq.2_Missense_Mutation_p.G276V|POU2F2_uc002osr.1_Missense_Mutation_p.G292V	p.G292V	NM_002698	NP_002689	P09086	PO2F2_HUMAN			10	942	-		Prostate(69;0.059)	292					Q16648|Q7M4M8|Q9BRS4	Missense_Mutation	SNP	ENST00000526816.2	37	c.875G>T	CCDS56095.1	.	.	.	.	.	.	.	.	.	.	C	28.0	4.881973	0.91740	.	.	ENSG00000028277	ENST00000389341;ENST00000342301;ENST00000292077;ENST00000533720;ENST00000526816;ENST00000529067;ENST00000529952	D;D;D;D;D	0.95656	-3.77;-3.77;-3.77;-3.77;-3.77	4.41	4.41	0.53225	Homeodomain-related (1);	0.000000	0.85682	D	0.000000	D	0.96269	0.8783	L	0.47716	1.5	0.80722	D	1	D;P;P	0.59357	0.985;0.473;0.562	D;B;P	0.63793	0.918;0.13;0.542	D	0.96823	0.9605	10	0.87932	D	0	.	16.3024	0.82830	0.0:1.0:0.0:0.0	.	276;292;276	P09086-4;P09086;P09086-3	.;PO2F2_HUMAN;.	V	276;292;292;276;291;276;292	ENSP00000373992:G276V;ENSP00000339369:G292V;ENSP00000437221:G276V;ENSP00000437224:G276V;ENSP00000436988:G292V	ENSP00000292077:G292V	G	-	2	0	POU2F2	47291616	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.561000	0.67339	2.446000	0.82766	0.655000	0.94253	GGC		0.627	POU2F2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387329.3			28	19	1	0	4.31865e-32	0.004878	6.65269e-32	28	19				
POU2F2	5452	broad.mit.edu	37	19	42600287	42600287	+	Nonsense_Mutation	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr19:42600287C>A	ENST00000526816.2	-	8	625	c.610G>T	c.(610-612)Gag>Tag	p.E204*	POU2F2_ENST00000529067.1_Nonsense_Mutation_p.E188*|POU2F2_ENST00000342301.4_Nonsense_Mutation_p.E204*|POU2F2_ENST00000529952.1_Nonsense_Mutation_p.E204*|POU2F2_ENST00000560398.1_Nonsense_Mutation_p.E210*|POU2F2_ENST00000533720.1_Nonsense_Mutation_p.E188*|POU2F2_ENST00000560558.1_Nonsense_Mutation_p.E149*|POU2F2_ENST00000389341.5_Nonsense_Mutation_p.E188*			P09086	PO2F2_HUMAN	POU class 2 homeobox 2	204	POU-specific. {ECO:0000255|PROSITE- ProRule:PRU00530}.				cell maturation (GO:0048469)|humoral immune response (GO:0006959)|immunoglobulin secretion involved in immune response (GO:0002380)|mature B cell differentiation (GO:0002335)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(1)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Prostate(69;0.059)			Dolutegravir(DB08930)	GCGAATTGCTCCAGCTCCTCC	0.692																																							uc002osp.2		NA																	0				ovary(1)|skin(1)	2						c.(610-612)GAG>TAG		POU domain, class 2, transcription factor 2							53.0	49.0	50.0					19																	42600287		2203	4300	6503	SO:0001587	stop_gained	5452				humoral immune response|transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr19:42600287C>A		CCDS33035.1, CCDS56094.1, CCDS56095.1, CCDS58665.1	19q13.2	2011-06-20	2007-07-13					"""Homeoboxes / POU class"""	9213	protein-coding gene	gene with protein product		164176	"""POU domain class 2, transcription factor 2"""	OTF2			Standard	NM_001207026		Approved	OCT2	uc002osp.3	P09086		ENST00000526816.2:c.610G>T	19.37:g.42600287C>A	ENSP00000431603:p.Glu204*					POU2F2_uc002osn.2_Nonsense_Mutation_p.E188*|POU2F2_uc002oso.2_5'UTR|POU2F2_uc002osq.2_Nonsense_Mutation_p.E188*|POU2F2_uc002osr.1_Nonsense_Mutation_p.E204*	p.E204*	NM_002698	NP_002689	P09086	PO2F2_HUMAN			8	677	-		Prostate(69;0.059)	204			POU-specific.		Q16648|Q7M4M8|Q9BRS4	Nonsense_Mutation	SNP	ENST00000526816.2	37	c.610G>T	CCDS56095.1	.	.	.	.	.	.	.	.	.	.	C	35	5.490911	0.96339	.	.	ENSG00000028277	ENST00000389341;ENST00000342301;ENST00000292077;ENST00000533720;ENST00000526816;ENST00000529067;ENST00000529952	.	.	.	4.47	4.47	0.54385	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	16.4364	0.83877	0.0:1.0:0.0:0.0	.	.	.	.	X	188;204;204;188;203;188;204	.	ENSP00000292077:E204X	E	-	1	0	POU2F2	47292127	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.530000	0.81962	2.481000	0.83766	0.650000	0.86243	GAG		0.692	POU2F2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387329.3			20	29	1	0	8.24728e-16	0.004656	1.12301e-15	20	29				
CIC	23152	broad.mit.edu	37	19	42791820	42791820	+	Nonsense_Mutation	SNP	G	G	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr19:42791820G>T	ENST00000575354.2	+	5	746	c.706G>T	c.(706-708)Gag>Tag	p.E236*	CIC_ENST00000160740.3_Nonsense_Mutation_p.E236*|CIC_ENST00000572681.2_Nonsense_Mutation_p.E1145*	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor	236					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				GATCCTGGGCGAGTGGTGGTA	0.607			"""Mis, F, S"""		oligodendroglioma																																		uc002otf.1		NA		Rec	yes		19	19q13.2	23152	T	capicua homolog			O	DUX4		soft tissue sarcoma		0				ovary(4)|breast(4)|lung(1)|central_nervous_system(1)|skin(1)	11						c.(706-708)GAG>TAG		capicua homolog							81.0	74.0	77.0					19																	42791820		2203	4300	6503	SO:0001587	stop_gained	23152				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr19:42791820G>T	AB002304	CCDS12601.1	19q13.2	2013-03-15	2013-03-15		ENSG00000079432	ENSG00000079432			14214	protein-coding gene	gene with protein product		612082	"""capicua (Drosophila) homolog"", ""capicua homolog (Drosophila)"""			12393275, 15981098	Standard	NM_015125		Approved	KIAA0306	uc002otf.1	Q96RK0		ENST00000575354.2:c.706G>T	19.37:g.42791820G>T	ENSP00000458663:p.Glu236*						p.E236*	NM_015125	NP_055940	Q96RK0	CIC_HUMAN			5	746	+		Prostate(69;0.00682)	236			HMG box.		Q7LGI1|Q9UEG5|Q9Y6T1	Nonsense_Mutation	SNP	ENST00000575354.2	37	c.706G>T	CCDS12601.1	.	.	.	.	.	.	.	.	.	.	G	41	9.104775	0.99068	.	.	ENSG00000079432	ENST00000160740	.	.	.	4.39	4.39	0.52855	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-19.8881	14.5138	0.67807	0.0:0.0:1.0:0.0	.	.	.	.	X	236	.	ENSP00000160740:E236X	E	+	1	0	CIC	47483660	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.446000	0.80609	2.284000	0.76573	0.555000	0.69702	GAG		0.607	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438532.2			52	40	1	0	7.41606e-26	0.00361	1.11351e-25	52	40				
PSG8	440533	broad.mit.edu	37	19	43257524	43257524	+	IGR	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr19:43257524C>A	ENST00000306511.4	-	0	1441				PSG8_ENST00000406636.3_Missense_Mutation_p.W294C|PSG8_ENST00000404209.4_Missense_Mutation_p.W416C|PSG8_ENST00000401467.2_Missense_Mutation_p.W323C|PSG8_ENST00000600709.1_5'UTR	NM_182707.2	NP_874366.1	Q9UQ74	PSG8_HUMAN	pregnancy specific beta-1-glycoprotein 8							extracellular region (GO:0005576)				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40		Prostate(69;0.00899)				agggtaatgtccagtctacag	0.383																																							uc002ouh.2		NA																	0					0						c.(1246-1248)TGG>TGT		pregnancy specific beta-1-glycoprotein 8 isoform							47.0	44.0	45.0					19																	43257524		692	1590	2282	SO:0001628	intergenic_variant	440533					extracellular region		g.chr19:43257524C>A	M74106	CCDS33037.1, CCDS46090.1, CCDS46091.1	19q13.2	2013-01-29			ENSG00000124467	ENSG00000124467		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9525	protein-coding gene	gene with protein product		176397				1672663, 1572651	Standard	NM_182707		Approved		uc002ouo.2	Q9UQ74	OTTHUMG00000151118		19.37:g.43257524C>A						PSG3_uc002ouf.2_Intron|PSG1_uc002oug.1_Intron|PSG8_uc010eim.2_RNA|PSG8_uc002oui.2_Missense_Mutation_p.W255C|PSG8_uc010ein.2_Missense_Mutation_p.W294C|PSG8_uc002ouj.3_Missense_Mutation_p.W198C|PSG8_uc002ouk.3_Missense_Mutation_p.W255C|PSG8_uc002oul.3_Missense_Mutation_p.W416C|PSG8_uc002oum.3_Missense_Mutation_p.W323C|PSG1_uc002oun.2_RNA	p.W416C	NM_001130167	NP_001123639	Q9UQ74	PSG8_HUMAN			6	1346	-		Prostate(69;0.00899)	416					A5PKV3|B2RPL4|B4DTI6|O60410|Q68CR6	Missense_Mutation	SNP	ENST00000306511.4	37	c.1248G>T	CCDS33037.1	.	.	.	.	.	.	.	.	.	.	N	1.083	-0.666410	0.03428	.	.	ENSG00000124467	ENST00000404209;ENST00000292109;ENST00000406636;ENST00000401467	T;T;T	0.21932	2.16;1.98;3.29	.	.	.	.	.	.	.	.	T	0.10208	0.0250	N	0.08118	0	0.09310	N	1	P;P;B;B	0.44344	0.482;0.833;0.125;0.077	B;B;B;B	0.42319	0.383;0.379;0.296;0.155	T	0.19844	-1.0293	7	0.38643	T	0.18	.	.	.	.	.	294;323;416;416	Q9UQ74-2;E7ENH0;Q9UQ74-3;A5PKV3	.;.;.;.	C	416;198;294;323	ENSP00000385869:W416C;ENSP00000385081:W294C;ENSP00000386090:W323C	ENSP00000292109:W198C	W	-	3	0	PSG8	47949364	0.130000	0.22417	0.077000	0.20336	0.077000	0.17291	0.184000	0.16939	0.119000	0.18210	0.121000	0.15741	TGG		0.383	PSG8-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464526.1			14	68	1	0	0.000422831	0.004007	0.000454837	14	68				
PSG4	5672	broad.mit.edu	37	19	43698701	43698701	+	Missense_Mutation	SNP	C	C	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr19:43698701C>T	ENST00000405312.3	-	5	1271	c.1034G>A	c.(1033-1035)cGt>cAt	p.R345H	PSG4_ENST00000433626.2_Missense_Mutation_p.R252H|PSG4_ENST00000244295.9_Missense_Mutation_p.R252H	NM_002780.3	NP_002771.2	Q00888	PSG4_HUMAN	pregnancy specific beta-1-glycoprotein 4	345	Ig-like C2-type 3.				female pregnancy (GO:0007565)	extracellular vesicular exosome (GO:0070062)		p.R345H(1)|p.R252H(1)		central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	24		Prostate(69;0.00682)				TTCTCCTGAACGGTAATAGGT	0.478																																							uc002ovy.2		NA																	2	Substitution - Missense(2)		central_nervous_system(2)	ovary(1)	1						c.(1033-1035)CGT>CAT		pregnancy specific beta-1-glycoprotein 4 isoform							153.0	159.0	157.0					19																	43698701		2202	4295	6497	SO:0001583	missense	5672				defense response|female pregnancy	extracellular region		g.chr19:43698701C>T		CCDS33039.1, CCDS46093.1, CCDS62695.1	19q13.2	2013-01-29			ENSG00000243137	ENSG00000243137		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9521	protein-coding gene	gene with protein product	"""pregnancy-specific beta-1-glycoprotein 4"""	176393				2783133	Standard	NM_002780		Approved		uc002ovy.4	Q00888	OTTHUMG00000151544	ENST00000405312.3:c.1034G>A	19.37:g.43698701C>T	ENSP00000384770:p.Arg345His					PSG6_uc010xwk.1_Intron|PSG4_uc002owa.2_Intron|PSG4_uc002owb.2_Missense_Mutation_p.R252H|PSG4_uc002ovz.2_Missense_Mutation_p.R252H	p.R345H	NM_002780	NP_002771	Q00888	PSG4_HUMAN			5	1136	-		Prostate(69;0.00682)	345			Ig-like C2-type 3.		E7EX79|Q13047|Q13048|Q15234|Q15240|Q9UQ76	Missense_Mutation	SNP	ENST00000405312.3	37	c.1034G>A	CCDS46093.1	.	.	.	.	.	.	.	.	.	.	c	2.895	-0.228835	0.06022	.	.	ENSG00000243137	ENST00000244295;ENST00000405312;ENST00000433626	T;T;T	0.13307	2.6;2.6;2.6	1.4	-2.79	0.05841	Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.07773	0.0195	L	0.33753	1.03	0.09310	N	1	B;B;B	0.21688	0.059;0.001;0.001	B;B;B	0.29353	0.101;0.003;0.004	T	0.45556	-0.9253	9	0.08837	T	0.75	.	3.181	0.06584	0.0:0.223:0.4504:0.3266	.	252;252;345	E7EX79;Q00888-2;Q00888	.;.;PSG4_HUMAN	H	252;345;252	ENSP00000244295:R252H;ENSP00000384770:R345H;ENSP00000387864:R252H	ENSP00000244295:R252H	R	-	2	0	PSG4	48390541	0.000000	0.05858	0.003000	0.11579	0.004000	0.04260	-3.953000	0.00326	-1.003000	0.03425	-0.550000	0.04213	CGT		0.478	PSG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323073.1	NM_213633		32	223	0	0	0	0.002445	0	32	223				
PSG9	5678	broad.mit.edu	37	19	43773566	43773566	+	Silent	SNP	G	G	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr19:43773566G>T	ENST00000270077.3	-	1	114	c.18C>A	c.(16-18)gcC>gcA	p.A6A	PSG9_ENST00000443718.3_Silent_p.A6A|PSG9_ENST00000593948.1_Silent_p.A6A|PSG9_ENST00000291752.5_Silent_p.A6A|PSG9_ENST00000244293.7_Silent_p.A6A|PSG9_ENST00000418820.2_Silent_p.A6A|PSG9_ENST00000596730.1_Silent_p.A6A	NM_002784.3	NP_002775.3	Q00887	PSG9_HUMAN	pregnancy specific beta-1-glycoprotein 9	6					female pregnancy (GO:0007565)	extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Prostate(69;0.00682)				TGCAGGAAGGGGCTGGGAGGG	0.617																																							uc002owd.3		NA																	0				ovary(1)|skin(1)	2						c.(16-18)GCC>GCA		pregnancy specific beta-1-glycoprotein 9							112.0	105.0	107.0					19																	43773566		2203	4300	6503	SO:0001819	synonymous_variant	5678				female pregnancy	extracellular region		g.chr19:43773566G>T	M34481	CCDS12618.1	19q13.2	2013-01-29			ENSG00000183668	ENSG00000183668		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9526	protein-coding gene	gene with protein product		176398		PSG11		7806221	Standard	XM_005259076		Approved	PSGII	uc002owd.4	Q00887	OTTHUMG00000182826	ENST00000270077.3:c.18C>A	19.37:g.43773566G>T						PSG9_uc002owe.3_Silent_p.A6A|PSG9_uc010xwm.1_Silent_p.A6A|PSG9_uc002owf.3_Silent_p.A6A|PSG9_uc002owg.2_Silent_p.A6A|PSG9_uc002owh.2_Silent_p.A6A	p.A6A	NM_002784	NP_002775	Q00887	PSG9_HUMAN			1	117	-		Prostate(69;0.00682)	6					B2R869|Q15227|Q15236|Q15237|Q8WW78|Q9UQ73	Silent	SNP	ENST00000270077.3	37	c.18C>A	CCDS12618.1																																																																																				0.617	PSG9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323065.1	NM_002784		25	171	1	0	2.95478e-19	0.00874	4.19321e-19	25	171				
PHLDB3	653583	broad.mit.edu	37	19	44001348	44001348	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr19:44001348C>A	ENST00000292140.5	-	6	1107	c.747G>T	c.(745-747)gaG>gaT	p.E249D	PHLDB3_ENST00000599242.1_Missense_Mutation_p.E249D	NM_198850.3	NP_942147.3	Q6NSJ2	PHLB3_HUMAN	pleckstrin homology-like domain, family B, member 3	249							enzyme binding (GO:0019899)			breast(1)|central_nervous_system(1)|lung(5)	7		Prostate(69;0.0153)				CCCGATCCTCCTCCTCCTGCC	0.627																																							uc002own.3		NA																	0					0						c.(745-747)GAG>GAT		pleckstrin homology-like domain, family B,							58.0	57.0	57.0					19																	44001348		2203	4300	6503	SO:0001583	missense	653583							g.chr19:44001348C>A		CCDS12621.2	19q13.31	2013-01-10			ENSG00000176531	ENSG00000176531		"""Pleckstrin homology (PH) domain containing"""	30499	protein-coding gene	gene with protein product							Standard	NM_198850		Approved	FLJ40193	uc002own.4	Q6NSJ2	OTTHUMG00000150693	ENST00000292140.5:c.747G>T	19.37:g.44001348C>A	ENSP00000292140:p.Glu249Asp					PHLDB3_uc010eit.2_5'Flank|PHLDB3_uc002owo.2_Missense_Mutation_p.E249D	p.E249D	NM_198850	NP_942147	Q6NSJ2	PHLB3_HUMAN			6	1006	-		Prostate(69;0.0153)	249			Potential.		Q8N7Z4	Missense_Mutation	SNP	ENST00000292140.5	37	c.747G>T	CCDS12621.2	.	.	.	.	.	.	.	.	.	.	C	13.33	2.205111	0.39003	.	.	ENSG00000176531	ENST00000292140	T	0.66995	-0.24	4.14	-0.591	0.11675	.	0.182612	0.32736	N	0.005702	T	0.70561	0.3238	M	0.61703	1.905	0.25858	N	0.983866	D;B	0.61697	0.99;0.005	D;B	0.70935	0.971;0.003	T	0.59118	-0.7514	10	0.42905	T	0.14	.	3.689	0.08339	0.0:0.4836:0.1887:0.3277	.	249;249	Q6NSJ2-2;Q6NSJ2	.;PHLB3_HUMAN	D	249	ENSP00000292140:E249D	ENSP00000292140:E249D	E	-	3	2	PHLDB3	48693188	0.885000	0.30320	0.999000	0.59377	0.972000	0.66771	-0.072000	0.11486	0.028000	0.15324	0.306000	0.20318	GAG		0.627	PHLDB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319643.2			18	84	1	0	1.37657e-19	0.001882	1.9618e-19	18	84				
GEMIN7	79760	broad.mit.edu	37	19	45593559	45593559	+	Missense_Mutation	SNP	C	C	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr19:45593559C>T	ENST00000270257.4	+	3	434	c.187C>T	c.(187-189)Cgg>Tgg	p.R63W	PPP1R37_ENST00000221462.4_5'Flank|GEMIN7_ENST00000391951.2_Missense_Mutation_p.R63W|GEMIN7_ENST00000591747.1_Missense_Mutation_p.R63W|CTB-179K24.3_ENST00000586556.1_RNA|CTB-179K24.3_ENST00000586744.1_RNA|GEMIN7_ENST00000591607.1_Missense_Mutation_p.R63W|PPP1R37_ENST00000421905.1_5'Flank	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	39	0	0	0	0.000602	0	4	39				
KLC3	147700	broad.mit.edu	37	19	45851263	45851263	+	Silent	SNP	G	G	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr19:45851263G>A	ENST00000391946.2	+	5	726	c.624G>A	c.(622-624)cgG>cgA	p.R208R	KLC3_ENST00000470402.1_Silent_p.R222R|KLC3_ENST00000585434.1_Silent_p.R207R	NM_177417.2	NP_803136.2	Q6P597	KLC3_HUMAN	kinesin light chain 3	208					axon cargo transport (GO:0008088)	ciliary rootlet (GO:0035253)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|motile cilium (GO:0031514)|neuron projection (GO:0043005)	microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(1)|ovary(1)	8		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0226)		CCCGCCTTCGGACCCTGCATA	0.677																																							uc002pbf.1		NA																	0				ovary(1)	1						c.(622-624)CGG>CGA		kinesin light chain 3							19.0	24.0	22.0					19																	45851263		2175	4285	6460	SO:0001819	synonymous_variant	147700					cytoplasm|kinesin complex|microtubule	microtubule motor activity	g.chr19:45851263G>A	AK092481	CCDS12660.2	19q13	2013-01-10			ENSG00000104892	ENSG00000104892		"""Tetratricopeptide (TTC) repeat domain containing"""	20717	protein-coding gene	gene with protein product		601334					Standard	XM_005258536		Approved	KLC2L, KNS2B, KLCt	uc002pbf.1	Q6P597	OTTHUMG00000143722	ENST00000391946.2:c.624G>A	19.37:g.45851263G>A						KLC3_uc010ejy.1_Silent_p.R207R|KLC3_uc002pbg.1_Silent_p.R222R	p.R208R	NM_177417	NP_803136	Q6P597	KLC3_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0226)	5	739	+		Ovarian(192;0.0728)|all_neural(266;0.112)	208			TPR 1.		A0AVM3|A2RUT6|Q6GMU2|Q8NAL1|Q8WWJ9	Silent	SNP	ENST00000391946.2	37	c.624G>A	CCDS12660.2																																																																																				0.677	KLC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000289776.1	NM_145275		5	23	0	0	0	0.001984	0	5	23				
SPACA4	171169	broad.mit.edu	37	19	49110431	49110431	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr19:49110431C>A	ENST00000321762.1	+	1	432	c.196C>A	c.(196-198)Ctg>Atg	p.L66M	FAM83E_ENST00000263266.3_Intron	NM_133498.2	NP_598005.1	Q8TDM5	SACA4_HUMAN	sperm acrosome associated 4	66	UPAR/Ly6 1.				cell adhesion (GO:0007155)	anchored component of membrane (GO:0031225)|cytoplasmic vesicle (GO:0031410)|plasma membrane (GO:0005886)				central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1)	5		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;9.98e-05)|all cancers(93;0.000112)|GBM - Glioblastoma multiforme(486;0.00615)|Epithelial(262;0.0155)		CAAAGGCTGCCTGCGAGCCAC	0.642																																							uc002pjo.2		NA																	0				central_nervous_system(1)	1						c.(196-198)CTG>ATG		sperm acrosomal membrane protein 14 precursor							40.0	38.0	38.0					19																	49110431		2203	4300	6503	SO:0001583	missense	171169				cell adhesion	acrosomal vesicle|anchored to membrane|plasma membrane		g.chr19:49110431C>A		CCDS12725.1	19q13.33	2013-10-24			ENSG00000177202	ENSG00000177202			16441	protein-coding gene	gene with protein product		609932					Standard	NM_133498		Approved	SAMP14	uc002pjo.3	Q8TDM5	OTTHUMG00000183316	ENST00000321762.1:c.196C>A	19.37:g.49110431C>A	ENSP00000312774:p.Leu66Met					FAM83E_uc002pjn.2_Intron	p.L66M	NM_133498	NP_598005	Q8TDM5	SACA4_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;9.98e-05)|all cancers(93;0.000112)|GBM - Glioblastoma multiforme(486;0.00615)|Epithelial(262;0.0155)	1	432	+		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	66			UPAR/Ly6 1.			Missense_Mutation	SNP	ENST00000321762.1	37	c.196C>A	CCDS12725.1	.	.	.	.	.	.	.	.	.	.	C	1.568	-0.534918	0.04082	.	.	ENSG00000177202	ENST00000321762	T	0.70869	-0.52	5.19	-7.61	0.01299	CD59 antigen (1);	0.896154	0.09338	N	0.815872	T	0.44953	0.1318	N	0.12182	0.205	0.09310	N	1	B	0.10296	0.003	B	0.14023	0.01	T	0.30937	-0.9961	10	0.23891	T	0.37	-7.97	10.3245	0.43785	0.2163:0.5953:0.1884:0.0	.	66	Q8TDM5	SACA4_HUMAN	M	66	ENSP00000312774:L66M	ENSP00000312774:L66M	L	+	1	2	SPACA4	53802243	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-1.865000	0.01649	-1.345000	0.02214	-1.167000	0.01749	CTG		0.642	SPACA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466149.1	NM_133498		4	43	1	0	2.56e-06	0.009096	2.88608e-06	4	43				
SNRNP70	6625	broad.mit.edu	37	19	49601690	49601690	+	Missense_Mutation	SNP	C	C	G			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr19:49601690C>G	ENST00000598441.1	+	5	496	c.272C>G	c.(271-273)cCt>cGt	p.P91R	SNRNP70_ENST00000221448.5_Missense_Mutation_p.P91R			P08621	RU17_HUMAN	small nuclear ribonucleoprotein 70kDa (U1)	91					gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U1 snRNP (GO:0005685)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|skin(2)	12						ACAGGGGACCCTCACAATGAT	0.517											OREG0025616	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc002pmk.2		NA																	0					0						c.(271-273)CCT>CGT		U1 small nuclear ribonucleoprotein 70 kDa							129.0	130.0	130.0					19																	49601690		2203	4300	6503	SO:0001583	missense	6625				nuclear mRNA splicing, via spliceosome|regulation of RNA splicing	nucleoplasm|spliceosomal complex	nucleotide binding|protein binding|RNA binding	g.chr19:49601690C>G		CCDS12756.1, CCDS74417.1	19q13.3	2013-02-12	2008-10-29	2008-10-29		ENSG00000104852		"""RNA binding motif (RRM) containing"""	11150	protein-coding gene	gene with protein product		180740	"""small nuclear ribonucleoprotein 70kDa (RNP antigen)"""	RNPU1Z, RPU1, SNRP70			Standard	XM_005259177		Approved	U1-70K, Snp1	uc021uxh.1	P08621		ENST00000598441.1:c.272C>G	19.37:g.49601690C>G	ENSP00000472998:p.Pro91Arg		OREG0025616	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	963	SNRNP70_uc002pmh.1_RNA|SNRNP70_uc002pmi.1_Missense_Mutation_p.P91R|SNRNP70_uc002pml.2_5'UTR|SNRNP70_uc002pmm.2_RNA	p.P91R	NM_003089	NP_003080	P08621	RU17_HUMAN			5	711	+			91					B3KUA3|P78493|P78494|Q15364|Q15686|Q15687|Q15689|Q99377|Q9UE45|Q9UE46|Q9UE47|Q9UE48|Q9UFQ6	Missense_Mutation	SNP	ENST00000598441.1	37	c.272C>G	CCDS12756.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.771884	0.90108	.	.	ENSG00000104852	ENST00000221448;ENST00000401730	T;T	0.76060	-0.99;-0.99	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	D	0.90386	0.6991	H	0.94925	3.6	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.997	D	0.92575	0.6069	10	0.87932	D	0	-7.5453	18.4505	0.90702	0.0:1.0:0.0:0.0	.	91;91	P08621;P08621-2	RU17_HUMAN;.	R	91	ENSP00000221448:P91R;ENSP00000385077:P91R	ENSP00000221448:P91R	P	+	2	0	SNRNP70	54293502	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.125000	0.77193	2.749000	0.94314	0.655000	0.94253	CCT		0.517	SNRNP70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466266.1	NM_003089		25	170	0	0	0	0.002445	0	25	170				
SLC17A7	57030	broad.mit.edu	37	19	49934685	49934685	+	Missense_Mutation	SNP	G	G	C			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr19:49934685G>C	ENST00000221485.3	-	10	1342	c.1171C>G	c.(1171-1173)Ctg>Gtg	p.L391V	SLC17A7_ENST00000600601.1_Missense_Mutation_p.L324V|SLC17A7_ENST00000543531.1_Missense_Mutation_p.L379V	NM_020309.3	NP_064705.1	Q9P2U7	VGLU1_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 7	391					glutamate secretion (GO:0014047)|ion transport (GO:0006811)|L-glutamate import (GO:0051938)|long-term memory (GO:0007616)|neurotransmitter secretion (GO:0007269)|phosphate ion transmembrane transport (GO:0035435)|phosphate ion transport (GO:0006817)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|sequestering of neurotransmitter (GO:0042137)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|cerebellar mossy fiber (GO:0044300)|clathrin-sculpted glutamate transport vesicle membrane (GO:0060203)|excitatory synapse (GO:0060076)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|synaptic vesicle membrane (GO:0030672)	inorganic phosphate transmembrane transporter activity (GO:0005315)|L-glutamate transmembrane transporter activity (GO:0005313)|sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|sodium:inorganic phosphate symporter activity (GO:0015319)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	26		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(486;0.0245)		ACCAACAGCAGCGTGGCTTCC	0.687																																							uc002pnp.2		NA																	0				ovary(1)|pancreas(1)|skin(1)	3						c.(1171-1173)CTG>GTG		solute carrier family 17, member 7							33.0	33.0	33.0					19																	49934685		2202	4299	6501	SO:0001583	missense	57030				glutamate secretion|neurotransmitter secretion	cell junction|clathrin sculpted glutamate transport vesicle membrane|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|sodium-dependent phosphate transmembrane transporter activity|sodium:inorganic phosphate symporter activity	g.chr19:49934685G>C	AB032436	CCDS12764.1	19q13.33	2013-07-18	2013-07-18		ENSG00000104888	ENSG00000104888		"""Solute carriers"""	16704	protein-coding gene	gene with protein product	"""vesicular glutamate transporter 1"""	605208	"""solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 7"""			8632143, 10820226	Standard	NM_020309		Approved	BNPI, VGLUT1	uc002pnp.3	Q9P2U7		ENST00000221485.3:c.1171C>G	19.37:g.49934685G>C	ENSP00000221485:p.Leu391Val					SLC17A7_uc002pno.2_Intron	p.L391V	NM_020309	NP_064705	Q9P2U7	VGLU1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(486;0.0245)	10	1343	-		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)	391			Helical; (Potential).		B4DFR9|B4DG46|Q6PCD0	Missense_Mutation	SNP	ENST00000221485.3	37	c.1171C>G	CCDS12764.1	.	.	.	.	.	.	.	.	.	.	G	16.69	3.192478	0.58017	.	.	ENSG00000104888	ENST00000221485;ENST00000543531	T;T	0.58797	0.31;0.31	3.99	2.95	0.34219	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.44688	D	0.000432	T	0.56366	0.1980	L	0.61036	1.89	0.54753	D	0.999986	B	0.23854	0.092	B	0.35353	0.201	T	0.62101	-0.6925	10	0.62326	D	0.03	.	9.4069	0.38466	0.1107:0.0:0.8893:0.0	.	391	Q9P2U7	VGLU1_HUMAN	V	391;379	ENSP00000221485:L391V;ENSP00000441767:L379V	ENSP00000221485:L391V	L	-	1	2	SLC17A7	54626497	0.997000	0.39634	1.000000	0.80357	0.880000	0.50808	2.394000	0.44450	2.235000	0.73313	0.430000	0.28490	CTG		0.687	SLC17A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465367.2			9	50	0	0	0	0.000978	0	9	50				
RPL13A	23521	broad.mit.edu	37	19	49993733	49993733	+	Splice_Site	SNP	G	G	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr19:49993733G>A	ENST00000391857.4	+	4	232	c.156G>A	c.(154-156)ttG>ttA	p.L52L	CTD-3148I10.15_ENST00000595815.1_RNA|SNORD35A_ENST00000363389.1_RNA|SNORD33_ENST00000362761.1_RNA|SNORD32A_ENST00000364805.1_RNA|SNORD34_ENST00000365633.1_RNA|RPL13A_ENST00000477613.2_3'UTR	NM_001270491.1|NM_012423.3	NP_001257420.1|NP_036555.1	P40429	RL13A_HUMAN	ribosomal protein L13a	52					cellular protein metabolic process (GO:0044267)|cellular response to interferon-gamma (GO:0071346)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|negative regulation of formation of translation preinitiation complex (GO:1901194)|negative regulation of translation (GO:0017148)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|focal adhesion (GO:0005925)|GAIT complex (GO:0097452)|large ribosomal subunit (GO:0015934)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			cervix(1)|endometrium(1)	2		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00154)|GBM - Glioblastoma multiforme(486;0.0246)		TCTCCCTAGTGAAGTACCTGG	0.622																																							uc002pny.2		NA																	0					0						c.(154-156)TTG>TTA		ribosomal protein L13a							32.0	39.0	37.0					19																	49993733		2203	4300	6503	SO:0001630	splice_region_variant	23521				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|large ribosomal subunit	structural constituent of ribosome	g.chr19:49993733G>A	X56932	CCDS12768.1, CCDS74421.1	19q13.3	2011-04-06			ENSG00000142541	ENSG00000142541		"""L ribosomal proteins"""	10304	protein-coding gene	gene with protein product			"""tissue specific transplantation antigen 1"""	TSTA1			Standard	NM_012423		Approved	L13A	uc031rlt.1	P40429	OTTHUMG00000134289	ENST00000391857.4:c.155-1G>A	19.37:g.49993733G>A						RPL13A_uc002pnz.2_5'UTR|RPL13A_uc002poa.2_Missense_Mutation_p.M42I|SNORD33_uc010emz.1_5'Flank|SNORD34_uc010ena.1_5'Flank|SNORD35A_uc010enb.1_5'Flank	p.L52L	NM_012423	NP_036555	P40429	RL13A_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00154)|GBM - Glioblastoma multiforme(486;0.0246)	4	178	+		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)	52					A8K505	Silent	SNP	ENST00000391857.4	37	c.156G>A	CCDS12768.1																																																																																				0.622	RPL13A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258989.1		Silent	7	53	0	0	0	0.001984	0	7	53				
CPT1C	126129	broad.mit.edu	37	19	50195610	50195610	+	Missense_Mutation	SNP	C	C	G			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr19:50195610C>G	ENST00000392518.4	+	3	473	c.101C>G	c.(100-102)tCt>tGt	p.S34C	CPT1C_ENST00000354199.5_Missense_Mutation_p.S34C|CPT1C_ENST00000323446.5_Missense_Mutation_p.S34C|CPT1C_ENST00000598714.1_3'UTR|CPT1C_ENST00000598293.1_Missense_Mutation_p.S34C|CTB-33G10.6_ENST00000596472.1_RNA|CPT1C_ENST00000405931.2_Missense_Mutation_p.S34C	NM_001199752.1	NP_001186681.1	Q8TCG5	CPT1C_HUMAN	carnitine palmitoyltransferase 1C	34					carnitine metabolic process (GO:0009437)|fatty acid beta-oxidation (GO:0006635)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|endoplasmic reticulum membrane (GO:0005789)|mitochondrial outer membrane (GO:0005741)|synapse (GO:0045202)	carnitine O-palmitoyltransferase activity (GO:0004095)			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786)		ATCTACCTCTCTGGCCTGCGC	0.622																																							uc002ppj.2		NA																	0				ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.(100-102)TCT>TGT		carnitine palmitoyltransferase 1C isoform 2							73.0	56.0	62.0					19																	50195610		2203	4300	6503	SO:0001583	missense	126129				fatty acid metabolic process	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity	g.chr19:50195610C>G	AF357970	CCDS12779.1, CCDS46147.1	19q13.33	2014-03-14				ENSG00000169169			18540	protein-coding gene	gene with protein product		608846				12376098, 11001805	Standard	NM_001136052		Approved	FLJ23809, CPTIC, CPT1P	uc010eng.3	Q8TCG5		ENST00000392518.4:c.101C>G	19.37:g.50195610C>G	ENSP00000376303:p.Ser34Cys					CPT1C_uc002ppl.3_Missense_Mutation_p.S34C|CPT1C_uc002ppi.2_5'UTR|CPT1C_uc002ppk.2_Missense_Mutation_p.S34C|CPT1C_uc010eng.2_Missense_Mutation_p.S34C|CPT1C_uc010enh.2_Missense_Mutation_p.S34C|CPT1C_uc010ybc.1_5'UTR	p.S34C	NM_152359	NP_689572	Q8TCG5	CPT1C_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786)	2	306	+		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)	34			Cytoplasmic (Potential).		A8K0Z8|Q5K6N5|Q8N6Q9|Q8NDS6|Q8TE84	Missense_Mutation	SNP	ENST00000392518.4	37	c.101C>G	CCDS12779.1	.	.	.	.	.	.	.	.	.	.	C	16.62	3.175093	0.57692	.	.	ENSG00000169169	ENST00000392518;ENST00000354199;ENST00000405931;ENST00000323446	D;D;D;D	0.87571	-2.27;-2.09;-2.26;-2.27	4.62	2.37	0.29283	.	0.237120	0.22014	N	0.065834	D	0.89350	0.6690	M	0.78285	2.405	0.80722	D	1	B;B;B	0.33528	0.023;0.416;0.188	B;B;B	0.42995	0.021;0.404;0.228	D	0.88386	0.3005	10	0.62326	D	0.03	.	14.1578	0.65428	0.0:0.7404:0.2596:0.0	.	34;34;34	Q8TCG5-3;Q8TCG5-2;Q8TCG5	.;.;CPT1C_HUMAN	C	34	ENSP00000376303:S34C;ENSP00000346138:S34C;ENSP00000384465:S34C;ENSP00000319343:S34C	ENSP00000319343:S34C	S	+	2	0	CPT1C	54887422	0.997000	0.39634	0.943000	0.38184	0.996000	0.88848	5.131000	0.64751	0.468000	0.27243	0.456000	0.33151	TCT		0.622	CPT1C-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465873.1	NM_152359		12	60	0	0	0	0.003163	0	12	60				
ZNF473	25888	broad.mit.edu	37	19	50548106	50548106	+	Missense_Mutation	SNP	G	G	C			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr19:50548106G>C	ENST00000595661.1	+	6	901	c.406G>C	c.(406-408)Gat>Cat	p.D136H	ZNF473_ENST00000270617.3_Missense_Mutation_p.D136H|CTD-2126E3.3_ENST00000599914.1_RNA|CTD-2126E3.3_ENST00000599410.1_RNA|ZNF473_ENST00000601364.1_Intron|ZNF473_ENST00000445728.3_Missense_Mutation_p.D124H|ZNF473_ENST00000391821.2_Missense_Mutation_p.D136H			Q8WTR7	ZN473_HUMAN	zinc finger protein 473	136					gene expression (GO:0010467)|histone mRNA 3'-end processing (GO:0006398)|histone mRNA metabolic process (GO:0008334)|mRNA 3'-end processing (GO:0031124)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	Cajal body (GO:0015030)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37		all_neural(266;0.0459)|Ovarian(192;0.0728)		GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058)		TCTGAGGTCTGATATTGCCAC	0.483																																							uc002prn.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(406-408)GAT>CAT		zinc finger protein 473							66.0	62.0	63.0					19																	50548106		2203	4300	6503	SO:0001583	missense	25888				histone mRNA 3'-end processing|regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription	Cajal body	DNA binding|protein binding|zinc ion binding	g.chr19:50548106G>C	AB032967	CCDS33077.1	19q13.33	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	23239	protein-coding gene	gene with protein product						11782445	Standard	NM_015428		Approved	KIAA1141, DKFZP434N043, HZFP100	uc002prn.3	Q8WTR7		ENST00000595661.1:c.406G>C	19.37:g.50548106G>C	ENSP00000472808:p.Asp136His					ZNF473_uc002prm.2_Missense_Mutation_p.D136H|ZNF473_uc010ybo.1_Missense_Mutation_p.D124H	p.D136H	NM_001006656	NP_001006657	Q8WTR7	ZN473_HUMAN		GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058)	5	643	+		all_neural(266;0.0459)|Ovarian(192;0.0728)	136					A8K8T7|Q9ULS9|Q9Y4Q7	Missense_Mutation	SNP	ENST00000595661.1	37	c.406G>C	CCDS33077.1	.	.	.	.	.	.	.	.	.	.	G	13.58	2.278663	0.40294	.	.	ENSG00000142528	ENST00000270617;ENST00000391821;ENST00000445728	T;T;T	0.10099	3.09;3.09;2.91	4.16	4.16	0.48862	.	0.000000	0.43416	D	0.000571	T	0.21509	0.0518	L	0.32530	0.975	0.37217	D	0.905086	D	0.89917	1.0	D	0.91635	0.999	T	0.03166	-1.1065	10	0.36615	T	0.2	-25.2571	14.7612	0.69607	0.0:0.0:1.0:0.0	.	136	Q8WTR7	ZN473_HUMAN	H	136;136;124	ENSP00000270617:D136H;ENSP00000375697:D136H;ENSP00000388961:D124H	ENSP00000270617:D136H	D	+	1	0	ZNF473	55239918	0.998000	0.40836	0.418000	0.26571	0.212000	0.24457	3.912000	0.56386	2.609000	0.88269	0.655000	0.94253	GAT		0.483	ZNF473-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464833.1	XM_046390		9	56	0	0	0	0.001368	0	9	56				
SIGLEC12	89858	broad.mit.edu	37	19	52001316	52001316	+	Missense_Mutation	SNP	G	G	T	rs267605619		TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr19:52001316G>T	ENST00000291707.3	-	5	1416	c.1361C>A	c.(1360-1362)tCc>tAc	p.S454Y	SIGLEC12_ENST00000598614.1_Missense_Mutation_p.S336Y	NM_053003.2	NP_443729.1	Q96PQ1	SIG12_HUMAN	sialic acid binding Ig-like lectin 12 (gene/pseudogene)	454	Ig-like C2-type 2.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			NS(2)|biliary_tract(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(1)|lung(23)|ovary(4)|prostate(2)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)	61		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)		AATGTGCTGGGAGCCTAGAGG	0.592																																							uc002pwx.1		NA																	0				ovary(3)|skin(2)	5						c.(1360-1362)TCC>TAC		sialic acid binding immunoglobulin-like							58.0	54.0	56.0					19																	52001316		2203	4300	6503	SO:0001583	missense	89858				cell adhesion	integral to membrane	sugar binding	g.chr19:52001316G>T	AF282256	CCDS12833.1, CCDS59416.1	19q13.41	2013-01-29	2011-06-29	2004-10-20	ENSG00000254521	ENSG00000254521		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15482	protein-coding gene	gene with protein product		606094	"""SIGLEC-like 1"", ""sialic acid binding Ig-like lectin 12"""	SIGLECL1		11409877, 11328818, 21555517	Standard	NM_053003		Approved	SLG, S2V, Siglec-XII, Siglec-12, Siglec-L1	uc002pwx.1	Q96PQ1	OTTHUMG00000165524	ENST00000291707.3:c.1361C>A	19.37:g.52001316G>T	ENSP00000291707:p.Ser454Tyr					SIGLEC12_uc002pww.1_Missense_Mutation_p.S336Y|SIGLEC12_uc010eoy.1_Missense_Mutation_p.S181Y	p.S454Y	NM_053003	NP_443729	Q96PQ1	SIG12_HUMAN		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)	5	1417	-		all_neural(266;0.0199)	454			Ig-like C2-type 2.|Extracellular (Potential).		Q8IYH7	Missense_Mutation	SNP	ENST00000291707.3	37	c.1361C>A	CCDS12833.1	.	.	.	.	.	.	.	.	.	.	.	16.80	3.223592	0.58668	.	.	ENSG00000254521	ENST00000291707	T	0.17370	2.28	1.39	1.39	0.22231	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.222920	0.23003	U	0.053041	T	0.44117	0.1278	M	0.92784	3.345	0.20703	N	0.999862	D;D	0.89917	1.0;0.998	D;D	0.85130	0.997;0.966	T	0.15235	-1.0444	10	0.87932	D	0	.	6.2185	0.20667	0.0:0.0:1.0:0.0	.	454;336	Q96PQ1;Q96PQ1-2	SIG12_HUMAN;.	Y	454	ENSP00000291707:S454Y	ENSP00000291707:S454Y	S	-	2	0	SIGLEC12	56693128	0.042000	0.20092	0.440000	0.26846	0.889000	0.51656	0.819000	0.27308	1.076000	0.40961	0.393000	0.25936	TCC		0.592	SIGLEC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384641.2	NM_053003		30	57	1	0	1.26612e-14	0.003271	1.68983e-14	30	57				
ZNF845	91664	broad.mit.edu	37	19	53855364	53855364	+	Missense_Mutation	SNP	C	C	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr19:53855364C>T	ENST00000595091.1	+	5	1655	c.1436C>T	c.(1435-1437)aCa>aTa	p.T479I	ZNF845_ENST00000458035.1_Missense_Mutation_p.T479I			Q96IR2	ZN845_HUMAN	zinc finger protein 845	479					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						TTCAGTCAGACATCATCCCTT	0.378																																							uc010ydv.1		NA																	0					0						c.(1435-1437)ACA>ATA		zinc finger protein 845							34.0	31.0	32.0					19																	53855364		692	1590	2282	SO:0001583	missense	91664				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53855364C>T	BC007307	CCDS46170.1	19q13.42	2013-01-08			ENSG00000213799	ENSG00000213799		"""Zinc fingers, C2H2-type"", ""-"""	25112	protein-coding gene	gene with protein product							Standard	NM_138374		Approved		uc010ydv.1	Q96IR2		ENST00000595091.1:c.1436C>T	19.37:g.53855364C>T	ENSP00000470005:p.Thr479Ile					ZNF845_uc010ydw.1_Missense_Mutation_p.T479I	p.T479I	NM_138374	NP_612383	Q96IR2	ZN845_HUMAN			4	1553	+			479			C2H2-type 10.			Missense_Mutation	SNP	ENST00000595091.1	37	c.1436C>T	CCDS46170.1	.	.	.	.	.	.	.	.	.	.	C	2.500	-0.315375	0.05422	.	.	ENSG00000213799	ENST00000458035;ENST00000427984	T	0.01034	5.42	2.08	-3.47	0.04753	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.00552	0.0018	N	0.10707	0.03	0.09310	N	1	B	0.22541	0.071	B	0.25987	0.065	T	0.45131	-0.9282	9	0.15499	T	0.54	.	4.7623	0.13113	0.4825:0.3397:0.1778:0.0	.	479	Q96IR2	ZN845_HUMAN	I	479	ENSP00000388311:T479I	ENSP00000412086:T479I	T	+	2	0	ZNF845	58547176	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-3.966000	0.00324	-0.647000	0.05444	-0.688000	0.03733	ACA		0.378	ZNF845-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464359.1	XM_039908		4	126	0	0	0	0.00308	0	4	126				
KIR3DL2	3812	broad.mit.edu	37	19	55377322	55377322	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr19:55377322C>A	ENST00000326321.3	+	7	1096	c.1063C>A	c.(1063-1065)Ctc>Atc	p.L355I	KIR3DL2_ENST00000270442.5_Missense_Mutation_p.L338I|KIR3DL1_ENST00000402254.2_Missense_Mutation_p.L355I	NM_006737.3	NP_006728.2	P43630	KI3L2_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 2	355					cellular defense response (GO:0006968)|regulation of immune response (GO:0050776)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	23				GBM - Glioblastoma multiforme(193;0.0192)		cttcatcctcctcctcttctt	0.498																																							uc002qhl.3		NA																	0				ovary(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|skin(1)	5						c.(1063-1065)CTC>ATC		SubName: Full=KIR3DS1;							288.0	234.0	252.0					19																	55377322		2203	4300	6503	SO:0001583	missense	3811				immune response|regulation of immune response	integral to plasma membrane	HLA-B specific inhibitory MHC class I receptor activity	g.chr19:55377322C>A	L41270	CCDS12906.1, CCDS58677.1	19q13.4	2014-05-22			ENSG00000240403	ENSG00000240403		"""Killer cell immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6339	protein-coding gene	gene with protein product		604947				7716543, 8662091	Standard	NM_006737		Approved	cl-5, nkat4, nkat4a, nkat4b, CD158K	uc002qho.4	P43630	OTTHUMG00000065935	ENST00000326321.3:c.1063C>A	19.37:g.55377322C>A	ENSP00000325525:p.Leu355Ile					KIR3DL2_uc010esh.2_Missense_Mutation_p.L338I|KIR3DL2_uc002qho.3_Missense_Mutation_p.L355I	p.L355I			P43629	KI3L1_HUMAN		GBM - Glioblastoma multiforme(193;0.0192)	7	1126	+			355			Helical; (Potential).		Q13238|Q14947|Q14948|Q92684|Q95366|Q95367|Q95368	Missense_Mutation	SNP	ENST00000326321.3	37	c.1063C>A	CCDS12906.1	.	.	.	.	.	.	.	.	.	.	c	0.007	-1.953746	0.00470	.	.	ENSG00000167633;ENSG00000240403;ENSG00000240403	ENST00000402254;ENST00000326321;ENST00000270442	T;T;T	0.00504	6.94;7.09;6.99	0.792	-1.58	0.08479	.	3.959500	0.02794	U	0.122397	T	0.00524	0.0017	L	0.49778	1.585	0.09310	N	1	B;B;B	0.14438	0.007;0.01;0.007	B;B;B	0.18263	0.014;0.009;0.021	T	0.51980	-0.8636	10	0.56958	D	0.05	.	2.3788	0.04348	0.4986:0.2937:0.0:0.2077	.	338;355;355	Q95366;P43630;F6QF33	.;KI3L2_HUMAN;.	I	355;355;338	ENSP00000384528:L355I;ENSP00000325525:L355I;ENSP00000270442:L338I	ENSP00000384528:L355I	L	+	1	0	KIR3DL1;KIR3DL2	60069134	0.001000	0.12720	0.000000	0.03702	0.000000	0.00434	-0.811000	0.04500	-2.740000	0.00379	-3.558000	0.00030	CTC		0.498	KIR3DL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000141241.1			22	27	1	0	1.50039e-11	0.001882	1.90188e-11	22	27				
RPL28	6158	broad.mit.edu	37	19	55897779	55897779	+	Missense_Mutation	SNP	C	C	G			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr19:55897779C>G	ENST00000344063.2	+	2	683	c.54C>G	c.(52-54)atC>atG	p.I18M	RPL28_ENST00000560583.1_Missense_Mutation_p.I18M|RPL28_ENST00000558752.1_Missense_Mutation_p.I18M|RPL28_ENST00000558815.1_Missense_Mutation_p.I18M|RPL28_ENST00000458349.2_Missense_Mutation_p.I18M|RPL28_ENST00000560055.1_Missense_Mutation_p.I18M|RPL28_ENST00000428193.2_Missense_Mutation_p.I18M|TMEM238_ENST00000444469.3_5'Flank|RPL28_ENST00000558131.1_Missense_Mutation_p.I18M|RPL28_ENST00000431533.2_Missense_Mutation_p.I18M|RPL28_ENST00000559463.1_Missense_Mutation_p.I18M			P46779	RL28_HUMAN	ribosomal protein L28	18					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			endometrium(1)|kidney(2)|large_intestine(2)|lung(1)	6	Breast(117;0.191)	Renal(1328;0.245)	LUSC - Lung squamous cell carcinoma(43;0.13)|BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0443)		GTTTCCTGATCAAGAGGAATA	0.607																																							uc002qkv.2		NA																	0					0						c.(52-54)ATC>ATG		ribosomal protein L28 isoform 2							44.0	42.0	43.0					19																	55897779		2203	4300	6503	SO:0001583	missense	6158				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	protein binding|RNA binding|structural constituent of ribosome	g.chr19:55897779C>G	U14969	CCDS12924.1, CCDS46189.1, CCDS46190.1, CCDS46191.1, CCDS46192.1	19q13.4	2011-04-06				ENSG00000108107		"""L ribosomal proteins"""	10330	protein-coding gene	gene with protein product	"""60S ribosomal protein L28"""	603638				7772601, 9582194	Standard	NM_001136134		Approved	FLJ43307, L28	uc010yga.2	P46779		ENST00000344063.2:c.54C>G	19.37:g.55897779C>G	ENSP00000342787:p.Ile18Met					uc002qku.2_5'Flank|RPL28_uc010yfz.1_Missense_Mutation_p.I18M|RPL28_uc010yfy.1_Missense_Mutation_p.I18M|RPL28_uc010yga.1_Missense_Mutation_p.I18M|RPL28_uc010ygb.1_Missense_Mutation_p.I18M|RPL28_uc002qkw.1_Missense_Mutation_p.I18M	p.I18M	NM_000991	NP_000982	P46779	RL28_HUMAN	LUSC - Lung squamous cell carcinoma(43;0.13)|BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0443)	2	96	+	Breast(117;0.191)	Renal(1328;0.245)	18					B2R4A6|B4DEP9|C9JB50|E9PB24|G5E9L2|Q6IAY0|Q96FX1|Q9BWQ0	Missense_Mutation	SNP	ENST00000344063.2	37	c.54C>G	CCDS12924.1	.	.	.	.	.	.	.	.	.	.	C	18.45	3.627228	0.66901	.	.	ENSG00000108107	ENST00000344063;ENST00000426763;ENST00000428193;ENST00000431533;ENST00000458349	T;T;T;T	0.43294	0.95;0.95;0.95;0.95	4.33	2.12	0.27331	.	0.064020	0.64402	D	0.000009	T	0.56140	0.1965	M	0.67953	2.075	0.39166	D	0.962493	D;D;B;P;D	0.71674	0.992;0.998;0.352;0.946;0.978	D;D;B;P;P	0.73380	0.945;0.98;0.175;0.689;0.867	T	0.57768	-0.7754	10	0.72032	D	0.01	.	7.5781	0.27948	0.164:0.7434:0.0:0.0925	.	18;18;18;18;18	B4DEP9;E9PB24;C9JB50;G5E9L2;P46779	.;.;.;.;RL28_HUMAN	M	18	ENSP00000342787:I18M;ENSP00000391665:I18M;ENSP00000400596:I18M;ENSP00000401450:I18M	ENSP00000342787:I18M	I	+	3	3	RPL28	60589591	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.983000	0.40648	0.520000	0.28426	0.655000	0.94253	ATC		0.607	RPL28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416277.2	NM_000991		6	44	0	0	0	0.006214	0	6	44				
U2AF2	11338	broad.mit.edu	37	19	56179919	56179919	+	Silent	SNP	C	C	T	rs80011152	byFrequency	TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr19:56179919C>T	ENST00000308924.4	+	8	829	c.789C>T	c.(787-789)atC>atT	p.I263I	CTD-2537I9.12_ENST00000585940.1_RNA|U2AF2_ENST00000590551.1_Silent_p.I99I|CTD-2537I9.13_ENST00000592252.1_RNA|U2AF2_ENST00000450554.2_Silent_p.I263I|CTD-2537I9.12_ENST00000589456.1_RNA			P26368	U2AF2_HUMAN	U2 small nuclear RNA auxiliary factor 2	263	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	enzyme binding (GO:0019899)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			biliary_tract(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(2)	21		Colorectal(82;0.00244)|Ovarian(87;0.133)	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.107)		AGCTGTTCATCGGGGGCTTAC	0.582													C|||	43	0.00858626	0.0318	0.0014	5008	,	,		13898	0.0		0.0	False		,,,				2504	0.0						uc002qlu.2		NA																	0				ovary(1)	1						c.(787-789)ATC>ATT		U2 (RNU2) small nuclear RNA auxiliary factor 2		C	,	158,4248	107.3+/-145.7	3,152,2048	125.0	109.0	114.0		789,789	-7.7	0.8	19	dbSNP_132	114	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	U2AF2	NM_001012478.1,NM_007279.2	,	3,152,6348	TT,TC,CC		0.0,3.586,1.2148	,	263/472,263/476	56179919	158,12848	2203	4300	6503	SO:0001819	synonymous_variant	11338				mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	nucleoplasm|spliceosomal complex	enzyme binding|nucleotide binding|RNA binding	g.chr19:56179919C>T	BC008740	CCDS12933.1, CCDS46197.1	19q13.43	2014-09-17	2006-04-11			ENSG00000063244		"""RNA binding motif (RRM) containing"""	23156	protein-coding gene	gene with protein product	"""U2 small nuclear ribonucleoprotein auxiliary factor (65kD)"", ""splicing factor U2AF 65 kD subunit"", ""U2 snRNP auxiliary factor large subunit"""	191318	"""U2 (RNU2) small nuclear RNA auxiliary factor 2"""			1538748	Standard	XM_006722994		Approved	U2AF65	uc002qlu.3	P26368		ENST00000308924.4:c.789C>T	19.37:g.56179919C>T						U2AF2_uc002qlt.2_Silent_p.I263I	p.I263I	NM_007279	NP_009210	P26368	U2AF2_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.107)	8	1844	+		Colorectal(82;0.00244)|Ovarian(87;0.133)	263			RRM 2.		Q96HC5	Silent	SNP	ENST00000308924.4	37	c.789C>T	CCDS12933.1																																																																																				0.582	U2AF2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000453599.1	NM_007279		9	88	0	0	0	0.008291	0	9	88				
ZIM2	23619	broad.mit.edu	37	19	57290750	57290750	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr19:57290750C>A	ENST00000391708.3	-	11	1279	c.737G>T	c.(736-738)tGt>tTt	p.C246F	AC006115.3_ENST00000597946.1_RNA|ZIM2_ENST00000593711.1_Missense_Mutation_p.C246F|ZIM2_ENST00000221722.5_Missense_Mutation_p.C246F|ZIM2_ENST00000601070.1_Missense_Mutation_p.C246F|AC006115.3_ENST00000595954.1_RNA|ZIM2_ENST00000599935.1_Missense_Mutation_p.C246F|AC006115.3_ENST00000594400.1_RNA	NM_001146326.1|NM_001146327.1	NP_001139798.1|NP_001139799.1	Q9NZV7	ZIM2_HUMAN	zinc finger, imprinted 2	246	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)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0314)		CTCACCTTGACAAATCACTGT	0.517																																							uc002qnr.2		NA																	0				ovary(3)	3						c.(736-738)TGT>TTT		zinc finger, imprinted 2							216.0	160.0	179.0					19																	57290750		2203	4300	6503	SO:0001583	missense	23619				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57290750C>A	AF166122	CCDS33123.1	19q13.4	2012-10-31				ENSG00000269699		"""Zinc fingers, C2H2-type"""	12875	protein-coding gene	gene with protein product							Standard	NM_015363		Approved	ZNF656		Q9NZV7		ENST00000391708.3:c.737G>T	19.37:g.57290750C>A	ENSP00000375589:p.Cys246Phe					uc010ygp.1_Intron|uc002qnp.1_Intron|ZIM2_uc010ygq.1_Missense_Mutation_p.C42F|ZIM2_uc010ygr.1_Missense_Mutation_p.C42F|ZIM2_uc002qnq.2_Missense_Mutation_p.C246F|ZIM2_uc010etp.2_Missense_Mutation_p.C246F|ZIM2_uc010ygs.1_Missense_Mutation_p.C246F	p.C246F	NM_015363	NP_056178	Q9NZV7	ZIM2_HUMAN		GBM - Glioblastoma multiforme(193;0.0314)	10	1119	-		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)	246			KRAB.		Q2M3K1	Missense_Mutation	SNP	ENST00000391708.3	37	c.737G>T	CCDS33123.1	.	.	.	.	.	.	.	.	.	.	C	1.549	-0.539705	0.04053	.	.	ENSG00000198300	ENST00000391708;ENST00000221722	T;T	0.04862	3.54;3.54	4.57	-5.75	0.02384	Krueppel-associated box (1);	.	.	.	.	T	0.03477	0.0100	L	0.39898	1.24	.	.	.	B	0.02656	0.0	B	0.04013	0.001	T	0.48864	-0.8997	8	0.10636	T	0.68	.	1.2461	0.01973	0.1841:0.2528:0.1252:0.4379	.	246	Q9NZV7	ZIM2_HUMAN	F	246	ENSP00000375589:C246F;ENSP00000221722:C246F	ENSP00000221722:C246F	C	-	2	0	ZIM2	61982562	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.848000	0.04326	-0.662000	0.05338	-0.878000	0.02970	TGT		0.517	ZIM2-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416094.2			23	115	1	0	2.79863e-10	0.004656	3.46481e-10	23	115				
ZNF154	7710	broad.mit.edu	37	19	58213694	58213694	+	Missense_Mutation	SNP	C	C	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr19:58213694C>T	ENST00000512439.2	-	3	819	c.623G>A	c.(622-624)cGg>cAg	p.R208Q	ZNF154_ENST00000426889.1_Missense_Mutation_p.R208Q|AC003006.7_ENST00000599221.1_Intron|AC003006.7_ENST00000594684.1_Intron|ZNF551_ENST00000596085.1_Intron			Q13106	ZN154_HUMAN	zinc finger protein 154	208					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)	p.R208Q(1)		endometrium(1)|kidney(1)|large_intestine(7)|lung(3)	12		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		GTGAACTCTCCGGTGCTGAAT	0.438																																							uc010euf.2		NA																	1	Substitution - Missense(1)		large_intestine(1)		0						c.(622-624)CGG>CAG		zinc finger protein 154							100.0	100.0	100.0					19																	58213694		2190	4290	6480	SO:0001583	missense	7710					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:58213694C>T	U20648	CCDS42639.1	19q13.4	2013-01-08	2006-08-22		ENSG00000179909	ENSG00000179909		"""Zinc fingers, C2H2-type"", ""-"""	12939	protein-coding gene	gene with protein product		604085	"""zinc finger protein 154 (pHZ-92)"""			7557990	Standard	XR_243957		Approved	pHZ-92	uc010euf.3	Q13106	OTTHUMG00000140375	ENST00000512439.2:c.623G>A	19.37:g.58213694C>T	ENSP00000421258:p.Arg208Gln					ZNF776_uc002qpx.2_Intron|ZNF154_uc002qpy.2_RNA	p.R208Q	NM_001085384	NP_001078853	Q13106	ZN154_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)	3	863	-		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)	208			C2H2-type 4.		A7MCY3|Q8IVG7|Q8NAR0	Missense_Mutation	SNP	ENST00000512439.2	37	c.623G>A	CCDS42639.1	.	.	.	.	.	.	.	.	.	.	C	11.17	1.559795	0.27827	.	.	ENSG00000179909	ENST00000512439;ENST00000426889	T;T	0.17691	2.26;2.26	2.82	0.515	0.17013	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.05640	0.0148	N	0.15975	0.35	0.09310	N	1	B	0.31026	0.304	B	0.17722	0.019	T	0.33033	-0.9884	9	0.02654	T	1	.	3.181	0.06584	0.0:0.5015:0.2292:0.2693	.	208	Q13106	ZN154_HUMAN	Q	208	ENSP00000421258:R208Q;ENSP00000442370:R208Q	ENSP00000442370:R208Q	R	-	2	0	ZNF154	62905506	0.000000	0.05858	0.005000	0.12908	0.971000	0.66376	-0.986000	0.03747	0.226000	0.20979	0.561000	0.74099	CGG		0.438	ZNF154-002	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277102.2			18	102	0	0	0	0.006122	0	18	102				
ADAM17	6868	broad.mit.edu	37	2	9676042	9676042	+	Missense_Mutation	SNP	T	T	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr2:9676042T>A	ENST00000310823.3	-	4	553	c.371A>T	c.(370-372)gAc>gTc	p.D124V	ADAM17_ENST00000497134.1_Missense_Mutation_p.D124V	NM_003183.4	NP_003174.3	P78536	ADA17_HUMAN	ADAM metallopeptidase domain 17	124					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)		AACCCTAGAGTCAGGCTCACC	0.299																																							uc002qzu.2		NA																	0				lung(1)|kidney(1)	2						c.(370-372)GAC>GTC		a disintegrin and metalloprotease domain 17							48.0	47.0	47.0					2																	9676042		2203	4298	6501	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.chr2:9676042T>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.371A>T	2.37:g.9676042T>A	ENSP00000309968:p.Asp124Val					ADAM17_uc010ewy.2_Missense_Mutation_p.D124V|ADAM17_uc010ewz.2_Intron|ADAM17_uc010exb.1_Missense_Mutation_p.D124V|ADAM17_uc002qzv.2_Missense_Mutation_p.D124V	p.D124V	NM_003183	NP_003174	P78536	ADA17_HUMAN		Epithelial(75;0.225)	4	554	-	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		124					O60226	Missense_Mutation	SNP	ENST00000310823.3	37	c.371A>T	CCDS1665.1	.	.	.	.	.	.	.	.	.	.	T	17.52	3.410266	0.62399	.	.	ENSG00000151694	ENST00000310823;ENST00000497134;ENST00000538558	T;T	0.06933	3.24;3.24	5.33	4.18	0.49190	Peptidase M12B, propeptide (1);	0.093251	0.64402	D	0.000001	T	0.17152	0.0412	L	0.38531	1.155	0.50467	D	0.999872	D;B;D;B	0.64830	0.994;0.072;0.994;0.072	D;B;D;B	0.67231	0.95;0.065;0.95;0.065	T	0.00704	-1.1602	10	0.49607	T	0.09	.	11.2509	0.49026	0.0:0.0722:0.0:0.9278	.	124;124;124;124	A8K1B4;B2RNB2;Q6P5T8;P78536	.;.;.;ADA17_HUMAN	V	124	ENSP00000309968:D124V;ENSP00000418728:D124V	ENSP00000309968:D124V	D	-	2	0	ADAM17	9593493	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	4.678000	0.61641	0.965000	0.38133	0.455000	0.32223	GAC		0.299	ADAM17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206857.1			4	37	0	0	0	0.009096	0	4	37				
NBAS	51594	broad.mit.edu	37	2	15519904	15519904	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr2:15519904C>A	ENST00000281513.5	-	30	3437	c.3412G>T	c.(3412-3414)Gct>Tct	p.A1138S	NBAS_ENST00000441750.1_Missense_Mutation_p.A1018S	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	1138					negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process (GO:0000956)	cytoplasm (GO:0005737)|membrane (GO:0016020)				NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						ATCTGTCCAGCCAGGTGGATG	0.443																																							uc002rcc.1		NA																	0				ovary(2)|liver(1)|skin(1)	4						c.(3412-3414)GCT>TCT		neuroblastoma-amplified protein							110.0	113.0	112.0					2																	15519904		2203	4300	6503	SO:0001583	missense	51594							g.chr2:15519904C>A	BC051792	CCDS1685.1	2p24.3	2009-02-23			ENSG00000151779	ENSG00000151779			15625	protein-coding gene	gene with protein product		608025				9926938, 12706883	Standard	NM_015909		Approved	NAG	uc002rcc.2	A2RRP1	OTTHUMG00000121153	ENST00000281513.5:c.3412G>T	2.37:g.15519904C>A	ENSP00000281513:p.Ala1138Ser					NBAS_uc010exl.1_Missense_Mutation_p.A210S|NBAS_uc002rcd.1_RNA	p.A1138S	NM_015909	NP_056993	A2RRP1	NBAS_HUMAN			30	3438	-			1138					O95790|Q2VPJ7|Q53TK6|Q86V39|Q8NFY8|Q9Y3W5	Missense_Mutation	SNP	ENST00000281513.5	37	c.3412G>T	CCDS1685.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	33|33	5.279232|5.279232	0.95489|0.95489	.|.	.|.	ENSG00000151779|ENSG00000151779	ENST00000441750;ENST00000281513;ENST00000441755|ENST00000442506	T;T;T|.	0.26373|.	1.74;1.74;1.74|.	5.89|5.89	5.89|5.89	0.94794|0.94794	Secretory pathway Sec39 (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.77987|0.77987	0.4213|0.4213	M|M	0.74258|0.74258	2.255|2.255	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	0.999;1.0|.	T|T	0.75639|0.75639	-0.3248|-0.3248	10|5	0.87932|.	D|.	0|.	.|.	20.2562|20.2562	0.98421|0.98421	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1018;1138|.	A2RRP1-2;A2RRP1|.	.;NBAS_HUMAN|.	S|C	1018;1138;185|185	ENSP00000413201:A1018S;ENSP00000281513:A1138S;ENSP00000396501:A185S|.	ENSP00000281513:A1138S|.	A|W	-|-	1|3	0|0	NBAS|NBAS	15437355|15437355	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	6.728000|6.728000	0.74769|0.74769	2.797000|2.797000	0.96272|0.96272	0.563000|0.563000	0.77884|0.77884	GCT|TGG		0.443	NBAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241638.1	NM_015909		83	56	1	0	1.76565e-42	0.00361	2.81445e-42	83	56				
MYCN	4613	broad.mit.edu	37	2	16086175	16086175	+	Missense_Mutation	SNP	C	C	G			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr2:16086175C>G	ENST00000281043.3	+	3	1648	c.1351C>G	c.(1351-1353)Cag>Gag	p.Q451E		NM_005378.4	NP_005369.2	P04198	MYCN_HUMAN	v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog	451	Leucine-zipper.				branching morphogenesis of an epithelial tube (GO:0048754)|cartilage condensation (GO:0001502)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system morphogenesis (GO:0048704)|lung development (GO:0030324)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|positive regulation of cell death (GO:0010942)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	chromatin (GO:0000785)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	31	all_cancers(1;1.35e-08)|all_neural(1;2.92e-24)|Lung SC(1;3.26e-07)|Medulloblastoma(1;6.9e-06)|all_lung(1;1.26e-05)|Glioma(3;0.135)|Acute lymphoblastic leukemia(172;0.155)|all_epithelial(1;0.169)|all_hematologic(175;0.197)		GBM - Glioblastoma multiforme(3;0.000332)			GCAGGCAAGACAGCAGCAGTT	0.458			A		neuroblastoma																																		uc002rci.2		NA		Dom	yes		2	2p24.1	4613	A	"""v-myc myelocytomatosis viral related oncogene, neuroblastoma derived (avian)"""			O			neuroblastoma		0				central_nervous_system(2)|ovary(1)|lung(1)|skin(1)	5						c.(1351-1353)CAG>GAG		v-myc myelocytomatosis viral related oncogene,							92.0	103.0	99.0					2																	16086175		2203	4300	6503	SO:0001583	missense	4613				regulation of transcription from RNA polymerase II promoter	chromatin|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr2:16086175C>G	BC002712	CCDS1687.1	2p24.3	2013-08-14	2013-07-09		ENSG00000134323	ENSG00000134323		"""Basic helix-loop-helix proteins"""	7559	protein-coding gene	gene with protein product		164840		NMYC			Standard	XM_006711886		Approved	bHLHe37, N-myc, MYCNOT	uc002rci.3	P04198	OTTHUMG00000039579	ENST00000281043.3:c.1351C>G	2.37:g.16086175C>G	ENSP00000281043:p.Gln451Glu					MYCN_uc010yjr.1_Missense_Mutation_p.Q443E	p.Q451E	NM_005378	NP_005369	P04198	MYCN_HUMAN	GBM - Glioblastoma multiforme(3;0.000332)		3	1651	+	all_cancers(1;1.35e-08)|all_neural(1;2.92e-24)|Lung SC(1;3.26e-07)|Medulloblastoma(1;6.9e-06)|all_lung(1;1.26e-05)|Glioma(3;0.135)|Acute lymphoblastic leukemia(172;0.155)|all_epithelial(1;0.169)|all_hematologic(175;0.197)		451			Leucine-zipper.		Q53XS5|Q6LDT9	Missense_Mutation	SNP	ENST00000281043.3	37	c.1351C>G	CCDS1687.1	.	.	.	.	.	.	.	.	.	.	C	15.87	2.960228	0.53400	.	.	ENSG00000134323	ENST00000281043;ENST00000426211	D	0.88201	-2.35	5.08	4.17	0.49024	Helix-loop-helix DNA-binding (2);	0.056834	0.64402	D	0.000001	D	0.88629	0.6488	M	0.79693	2.465	0.44323	D	0.997202	B	0.30824	0.296	B	0.23419	0.046	D	0.87762	0.2599	10	0.56958	D	0.05	-6.3383	15.5913	0.76530	0.0:0.8617:0.1383:0.0	.	451	P04198	MYCN_HUMAN	E	451;369	ENSP00000281043:Q451E	ENSP00000281043:Q451E	Q	+	1	0	MYCN	16003626	1.000000	0.71417	0.941000	0.38009	0.998000	0.95712	4.829000	0.62737	1.235000	0.43724	0.609000	0.83330	CAG		0.458	MYCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095469.2	NM_005378		25	159	0	0	0	0.008361	0	25	159				
WDR35	57539	broad.mit.edu	37	2	20175335	20175335	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr2:20175335C>A	ENST00000345530.3	-	6	641	c.526G>T	c.(526-528)Gca>Tca	p.A176S	WDR35_ENST00000416055.2_5'UTR|WDR35_ENST00000281405.4_Missense_Mutation_p.A176S	NM_001006657.1	NP_001006658.1	Q9P2L0	WDR35_HUMAN	WD repeat domain 35	176					cilium assembly (GO:0042384)|intraciliary retrograde transport (GO:0035721)	axoneme (GO:0005930)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|intraciliary transport particle A (GO:0030991)				breast(1)|endometrium(5)|kidney(8)|large_intestine(8)|lung(16)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCCCCATTTGCCATTCCAAAA	0.343																																							uc002rdi.2		NA																	0				ovary(1)	1						c.(526-528)GCA>TCA		WD repeat domain 35 isoform 1							99.0	88.0	92.0					2																	20175335		2203	4300	6503	SO:0001583	missense	57539							g.chr2:20175335C>A	AB037757	CCDS1695.1, CCDS33152.1	2p24.3	2014-02-21			ENSG00000118965	ENSG00000118965		"""WD repeat domain containing"", ""Intraflagellar transport homologs"""	29250	protein-coding gene	gene with protein product		613602				10718198	Standard	NM_001006657		Approved	MGC33196, KIAA1336, IFT121, IFTA1	uc002rdi.3	Q9P2L0	OTTHUMG00000090737	ENST00000345530.3:c.526G>T	2.37:g.20175335C>A	ENSP00000314444:p.Ala176Ser					WDR35_uc002rdj.2_Missense_Mutation_p.A176S|WDR35_uc010ext.2_RNA|WDR35_uc002rdh.2_5'UTR	p.A176S	NM_001006657	NP_001006658	Q9P2L0	WDR35_HUMAN			6	634	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		176			WD 4.		B3KVI5|Q4ZG01|Q8NE11	Missense_Mutation	SNP	ENST00000345530.3	37	c.526G>T	CCDS33152.1	.	.	.	.	.	.	.	.	.	.	C	14.14	2.447536	0.43429	.	.	ENSG00000118965	ENST00000345530;ENST00000281405	T;T	0.37235	1.21;1.21	5.11	4.24	0.50183	WD40/YVTN repeat-like-containing domain (1);	0.166793	0.52532	D	0.000075	T	0.25419	0.0618	N	0.24115	0.695	0.80722	D	1	B;B	0.31949	0.348;0.001	B;B	0.36244	0.22;0.007	T	0.03240	-1.1057	10	0.11182	T	0.66	-10.043	13.1604	0.59540	0.0:0.9222:0.0:0.0778	.	176;176	Q9P2L0-2;Q9P2L0	.;WDR35_HUMAN	S	176	ENSP00000314444:A176S;ENSP00000281405:A176S	ENSP00000281405:A176S	A	-	1	0	WDR35	20038816	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.690000	0.47001	1.295000	0.44724	0.563000	0.77884	GCA		0.343	WDR35-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000207472.2	NM_020779		22	11	1	0	2.37509e-13	0.010504	3.1204e-13	22	11				
OTOF	9381	broad.mit.edu	37	2	26689665	26689665	+	Missense_Mutation	SNP	C	C	A	rs371051158		TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr2:26689665C>A	ENST00000272371.2	-	36	4543	c.4417G>T	c.(4417-4419)Ggc>Tgc	p.G1473C	OTOF_ENST00000403946.3_Missense_Mutation_p.G1473C|OTOF_ENST00000402415.3_Missense_Mutation_p.G783C|OTOF_ENST00000338581.6_Missense_Mutation_p.G706C|OTOF_ENST00000339598.3_Missense_Mutation_p.G706C	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	1473					membrane fusion (GO:0061025)|sensory perception of sound (GO:0007605)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GAGTCGTAGCCGGCTTCCCGG	0.607																																					GBM(102;732 1451 20652 24062 31372)	GBM(102;732 1451 20652 24062 31372)	uc002rhk.2		NA																	0				ovary(3)|breast(2)|central_nervous_system(1)|pancreas(1)	7						c.(4417-4419)GGC>TGC		otoferlin isoform a							91.0	82.0	85.0					2																	26689665		2203	4300	6503	SO:0001583	missense	9381				cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding	g.chr2:26689665C>A	AF107403	CCDS1724.1, CCDS1725.1, CCDS1726.1, CCDS46241.1, CCDS74497.1	2p23.1	2014-06-27			ENSG00000115155	ENSG00000115155			8515	protein-coding gene	gene with protein product	"""fer-1-like family member 2"""	603681		DFNB9		10192385, 18381613	Standard	NM_194248		Approved	FER1L2, DFNB6	uc002rhk.3	Q9HC10	OTTHUMG00000096977	ENST00000272371.2:c.4417G>T	2.37:g.26689665C>A	ENSP00000272371:p.Gly1473Cys					OTOF_uc010yla.1_Missense_Mutation_p.G203C|OTOF_uc002rhh.2_Missense_Mutation_p.G706C|OTOF_uc002rhi.2_Missense_Mutation_p.G783C|OTOF_uc002rhj.2_Missense_Mutation_p.G706C	p.G1473C	NM_194248	NP_919224	Q9HC10	OTOF_HUMAN			36	4544	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		1473			Cytoplasmic (Potential).		B4DJX0|B5MCC1|B9A0H6|Q53R90|Q9HC08|Q9HC09|Q9Y650	Missense_Mutation	SNP	ENST00000272371.2	37	c.4417G>T	CCDS1725.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.250547	0.80024	.	.	ENSG00000115155	ENST00000338581;ENST00000339598;ENST00000402415;ENST00000272371;ENST00000403946	T;T;T;T;T	0.81415	-1.23;-1.23;-1.23;-1.49;-1.49	4.92	3.09	0.35607	C2 calcium/lipid-binding domain, CaLB (1);	0.152476	0.64402	D	0.000016	D	0.85492	0.5709	M	0.64997	1.995	0.80722	D	1	D;D;D;D	0.71674	0.998;0.993;0.998;0.977	P;P;D;P	0.65443	0.84;0.851;0.935;0.851	D	0.85621	0.1264	10	0.59425	D	0.04	-28.54	10.6387	0.45579	0.0:0.8409:0.0:0.1591	.	1473;706;783;706	Q9HC10;Q9HC10-2;Q9HC10-3;Q9HC10-4	OTOF_HUMAN;.;.;.	C	706;706;783;1473;1473	ENSP00000345137:G706C;ENSP00000344521:G706C;ENSP00000383906:G783C;ENSP00000272371:G1473C;ENSP00000385255:G1473C	ENSP00000272371:G1473C	G	-	1	0	OTOF	26543169	1.000000	0.71417	0.996000	0.52242	0.965000	0.64279	6.021000	0.70832	1.219000	0.43474	0.561000	0.74099	GGC		0.607	OTOF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214047.3			41	104	1	0	2.74695e-27	0.00361	4.16793e-27	41	104				
FAM179A	165186	broad.mit.edu	37	2	29274845	29274845	+	Silent	SNP	G	G	C	rs373619963		TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr2:29274845G>C	ENST00000379558.4	+	20	3297	c.2946G>C	c.(2944-2946)acG>acC	p.T982T	FAM179A_ENST00000403861.2_Silent_p.T927T|FAM179A_ENST00000465300.1_3'UTR	NM_199280.2	NP_954974.2	Q6ZUX3	F179A_HUMAN	family with sequence similarity 179, member A	982										breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						TCCTCAAGACGCTCCAGGAAC	0.637																																							uc010ezl.2		NA																	0				ovary(3)|skin(1)	4						c.(2944-2946)ACG>ACC		hypothetical protein LOC165186							18.0	20.0	20.0					2																	29274845		1906	4126	6032	SO:0001819	synonymous_variant	165186						binding	g.chr2:29274845G>C	AK125239, AK125744	CCDS1769.2	2p23.2	2008-10-30			ENSG00000189350	ENSG00000189350			33715	protein-coding gene	gene with protein product						16344560	Standard	NM_199280		Approved	FLJ43249, LOC165186	uc010ezl.3	Q6ZUX3	OTTHUMG00000128432	ENST00000379558.4:c.2946G>C	2.37:g.29274845G>C						FAM179A_uc010ymm.1_Silent_p.T927T|FAM179A_uc002rmr.3_Silent_p.T509T	p.T982T	NM_199280	NP_954974	Q6ZUX3	F179A_HUMAN			20	3297	+			982					Q6ZUF5	Silent	SNP	ENST00000379558.4	37	c.2946G>C	CCDS1769.2																																																																																				0.637	FAM179A-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317848.4	NM_199280		4	16	0	0	0	0.009096	0	4	16				
HEATR5B	54497	broad.mit.edu	37	2	37283652	37283652	+	Missense_Mutation	SNP	C	C	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr2:37283652C>T	ENST00000233099.5	-	16	2425	c.2330G>A	c.(2329-2331)gGa>gAa	p.G777E	HEATR5B_ENST00000354531.2_Missense_Mutation_p.G777E	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	777						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				GACTGAGACTCCGAGAGGGAG	0.458																																							uc002rpp.1		NA																	0				ovary(5)|skin(2)|breast(1)	8						c.(2329-2331)GGA>GAA		HEAT repeat containing 5B							94.0	101.0	98.0					2																	37283652		2203	4300	6503	SO:0001583	missense	54497						binding	g.chr2:37283652C>T	AB037835	CCDS33181.1	2p22.2	2007-01-02			ENSG00000008869	ENSG00000008869			29273	protein-coding gene	gene with protein product						10718198	Standard	XM_005264379		Approved	KIAA1414, DKFZp686P15184	uc002rpp.1	Q9P2D3	OTTHUMG00000152158	ENST00000233099.5:c.2330G>A	2.37:g.37283652C>T	ENSP00000233099:p.Gly777Glu						p.G777E	NM_019024	NP_061897	Q9P2D3	HTR5B_HUMAN			16	2426	-		all_hematologic(82;0.21)	777					B5MDU8|Q7Z3B2|Q9NVL7	Missense_Mutation	SNP	ENST00000233099.5	37	c.2330G>A	CCDS33181.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.467220	0.84533	.	.	ENSG00000008869	ENST00000233099;ENST00000354531	T;T	0.43294	0.95;0.97	5.5	5.5	0.81552	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.47710	0.1460	M	0.67397	2.05	0.80722	D	1	P	0.35600	0.511	B	0.42245	0.381	T	0.41179	-0.9523	10	0.06891	T	0.86	-22.5893	19.383	0.94545	0.0:1.0:0.0:0.0	.	777	Q9P2D3	HTR5B_HUMAN	E	777	ENSP00000233099:G777E;ENSP00000346531:G777E	ENSP00000233099:G777E	G	-	2	0	HEATR5B	37137156	1.000000	0.71417	0.983000	0.44433	0.992000	0.81027	7.775000	0.85489	2.582000	0.87167	0.591000	0.81541	GGA		0.458	HEATR5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325492.1	NM_019024		34	94	0	0	0	0.00874	0	34	94				
CDKL4	344387	broad.mit.edu	37	2	39431680	39431680	+	Missense_Mutation	SNP	C	C	G			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr2:39431680C>G	ENST00000395035.3	-	4	441	c.442G>C	c.(442-444)Gca>Cca	p.A148P	CDKL4_ENST00000378803.1_Missense_Mutation_p.A148P			Q5MAI5	CDKL4_HUMAN	cyclin-dependent kinase-like 4	148	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)				AGAATTTGTGCAAACCCGAAG	0.284																																							uc002rrm.2		NA																	0				ovary(1)	1						c.(442-444)GCA>CCA		cyclin-dependent kinase-like 4							82.0	78.0	79.0					2																	39431680		2201	4292	6493	SO:0001583	missense	344387					cytoplasm	ATP binding|cyclin-dependent protein kinase activity	g.chr2:39431680C>G		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.442G>C	2.37:g.39431680C>G	ENSP00000378476:p.Ala148Pro					CDKL4_uc010fal.1_Missense_Mutation_p.A148P	p.A148P	NM_001009565	NP_001009565	Q5MAI5	CDKL4_HUMAN			4	442	-		all_hematologic(82;0.248)	148			Protein kinase.		Q2NME9	Missense_Mutation	SNP	ENST00000395035.3	37	c.442G>C		.	.	.	.	.	.	.	.	.	.	C	25.3	4.618963	0.87460	.	.	ENSG00000205111	ENST00000378803;ENST00000395035	T;T	0.63913	-0.07;-0.07	5.79	5.79	0.91817	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	0.56097	D	0.000028	D	0.85173	0.5636	H	0.95328	3.655	0.58432	D	0.999996	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.997	D	0.88981	0.3408	10	0.87932	D	0	-24.5762	15.5436	0.76077	0.0:1.0:0.0:0.0	.	148;148	Q2NME9;Q5MAI5	.;CDKL4_HUMAN	P	148	ENSP00000368080:A148P;ENSP00000378476:A148P	ENSP00000368080:A148P	A	-	1	0	CDKL4	39285184	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.050000	0.64251	2.731000	0.93534	0.650000	0.86243	GCA		0.284	CDKL4-002	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000331655.1	XM_293029		11	66	0	0	0	0.00245	0	11	66				
REL	5966	broad.mit.edu	37	2	61144153	61144153	+	Splice_Site	SNP	G	G	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr2:61144153G>T	ENST00000295025.8	+	5	855		c.e5+1		REL_ENST00000394479.3_Splice_Site	NM_002908.2	NP_002899.1	Q04864	REL_HUMAN	v-rel avian reticuloendotheliosis viral oncogene homolog						cytokine production (GO:0001816)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|negative regulation of neuron death (GO:1901215)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	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)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|large_intestine(5)|lung(3)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	16	all_hematologic(2;0.0797)	Ovarian(717;0.0728)	LUSC - Lung squamous cell carcinoma(5;6.2e-08)|Lung(5;1.65e-06)|Epithelial(17;0.064)|all cancers(80;0.221)			TATGACAACCGTAAGTACTTC	0.308			A		Hodgkin Lymphoma																																		uc002sam.1		NA		Dom	yes		2	2p13-p12	5966	A	v-rel reticuloendotheliosis viral oncogene homolog (avian)			L			Hodgkin Lymphoma		0				ovary(2)|breast(1)	3						c.e5+1		v-rel reticuloendotheliosis viral oncogene							141.0	133.0	136.0					2																	61144153		2203	4300	6503	SO:0001630	splice_region_variant	5966				positive regulation of I-kappaB kinase/NF-kappaB cascade	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr2:61144153G>T	M11595	CCDS1864.1, CCDS74515.1	2p13-p12	2013-07-09	2013-07-09		ENSG00000162924	ENSG00000162924			9954	protein-coding gene	gene with protein product		164910				1577270	Standard	XM_005264470		Approved	I-Rel, c-Rel	uc002sam.1	Q04864	OTTHUMG00000129418	ENST00000295025.8:c.535+1G>T	2.37:g.61144153G>T						REL_uc002san.1_Splice_Site_p.R179_splice	p.R179_splice	NM_002908	NP_002899	Q04864	REL_HUMAN	LUSC - Lung squamous cell carcinoma(5;6.2e-08)|Lung(5;1.65e-06)|Epithelial(17;0.064)|all cancers(80;0.221)		5	759	+	all_hematologic(2;0.0797)	Ovarian(717;0.0728)						Q17RU2|Q2PNZ7|Q6LDY0	Splice_Site	SNP	ENST00000295025.8	37	c.535_splice	CCDS1864.1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.718998	0.89205	.	.	ENSG00000162924	ENST00000295025;ENST00000394479	.	.	.	5.68	5.68	0.88126	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.7762	0.96393	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	REL	60997657	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	9.362000	0.97126	2.678000	0.91216	0.591000	0.81541	.		0.308	REL-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251576.3	NM_002908	Intron	31	42	1	0	2.40579e-17	0.00623	3.34359e-17	31	42				
PROKR1	10887	broad.mit.edu	37	2	68882544	68882544	+	Missense_Mutation	SNP	C	C	G			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr2:68882544C>G	ENST00000303786.3	+	3	1438	c.1018C>G	c.(1018-1020)Ctg>Gtg	p.L340V	PROKR1_ENST00000394342.2_Missense_Mutation_p.L340V			Q8TCW9	PKR1_HUMAN	prokineticin receptor 1	340					negative regulation of apoptotic process (GO:0043066)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide Y receptor activity (GO:0004983)			endometrium(3)|kidney(2)|large_intestine(14)|lung(9)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						GATCAACACTCTGTGCTTCGT	0.507																																							uc010yqj.1		NA																	0				ovary(1)	1						c.(1018-1020)CTG>GTG		G protein-coupled receptor 73							193.0	139.0	157.0					2																	68882544		2203	4300	6503	SO:0001583	missense	10887					integral to membrane|plasma membrane	neuropeptide Y receptor activity	g.chr2:68882544C>G	AF506287	CCDS1889.1	2p14	2012-08-08	2006-02-15	2006-02-15	ENSG00000169618	ENSG00000169618		"""GPCR / Class A : Prokineticin receptors"""	4524	protein-coding gene	gene with protein product		607122	"""G protein-coupled receptor 73"""	GPR73		10760605	Standard	NM_138964		Approved	PKR1, ZAQ, GPR73a	uc010yqj.2	Q8TCW9	OTTHUMG00000129567	ENST00000303786.3:c.1018C>G	2.37:g.68882544C>G	ENSP00000303775:p.Leu340Val					PROKR1_uc002ses.2_RNA	p.L340V	NM_138964	NP_620414	Q8TCW9	PKR1_HUMAN			2	1018	+			340			Helical; Name=7; (Potential).		A5JUU2|Q53QT9|Q8NFJ7	Missense_Mutation	SNP	ENST00000303786.3	37	c.1018C>G	CCDS1889.1	.	.	.	.	.	.	.	.	.	.	C	0.003	-2.434148	0.00182	.	.	ENSG00000169618	ENST00000303786;ENST00000394342	T;T	0.39592	1.07;1.07	4.68	-2.65	0.06095	GPCR, rhodopsin-like superfamily (1);	0.455288	0.25648	N	0.029233	T	0.19127	0.0459	N	0.17674	0.51	0.24126	N	0.995788	B	0.02656	0.0	B	0.10450	0.005	T	0.04870	-1.0921	10	0.39692	T	0.17	.	2.0421	0.03553	0.117:0.2121:0.3658:0.3051	.	340	Q8TCW9	PKR1_HUMAN	V	340	ENSP00000303775:L340V;ENSP00000377874:L340V	ENSP00000303775:L340V	L	+	1	2	PROKR1	68736048	0.003000	0.15002	0.303000	0.25071	0.305000	0.27757	0.023000	0.13533	-0.555000	0.06142	-0.878000	0.02970	CTG		0.507	PROKR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251760.2			19	55	0	0	0	0.003954	0	19	55				
DYSF	8291	broad.mit.edu	37	2	71892384	71892384	+	Missense_Mutation	SNP	G	G	C			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr2:71892384G>C	ENST00000258104.3	+	46	5427	c.5150G>C	c.(5149-5151)cGg>cCg	p.R1717P	DYSF_ENST00000429174.2_Missense_Mutation_p.R1738P|DYSF_ENST00000409762.1_Missense_Mutation_p.R1734P|DYSF_ENST00000410020.3_Missense_Mutation_p.R1756P|DYSF_ENST00000409366.1_Missense_Mutation_p.R1739P|DYSF_ENST00000394120.2_Missense_Mutation_p.R1718P|DYSF_ENST00000409651.1_Missense_Mutation_p.R1749P|DYSF_ENST00000409744.1_Missense_Mutation_p.R1725P|DYSF_ENST00000410041.1_Missense_Mutation_p.R1735P|DYSF_ENST00000413539.2_Missense_Mutation_p.R1748P|DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000409582.3_Missense_Mutation_p.R1755P	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	1717					plasma membrane repair (GO:0001778)|vesicle fusion (GO:0006906)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phospholipid binding (GO:0005543)			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						CCTGTGTACCGGACAGACCGT	0.562																																							uc002sie.2		NA																	0				ovary(3)|breast(2)|pancreas(1)|skin(1)	7						c.(5149-5151)CGG>CCG		dysferlin isoform 8							101.0	100.0	101.0					2																	71892384		2203	4300	6503	SO:0001583	missense	8291					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding	g.chr2:71892384G>C	AF075575	CCDS1918.1, CCDS46323.1, CCDS46324.1, CCDS46325.1, CCDS46326.1, CCDS46327.1, CCDS46328.1, CCDS46329.1, CCDS46330.1, CCDS46331.1, CCDS46332.1	2p13.3	2014-09-17	2013-09-12		ENSG00000135636	ENSG00000135636			3097	protein-coding gene	gene with protein product	"""fer-1-like family member 1"""	603009	"""limb girdle muscular dystrophy 2B (autosomal recessive)"""	LGMD2B		8320700	Standard	NM_003494		Approved	FER1L1	uc010fen.3	O75923	OTTHUMG00000129757	ENST00000258104.3:c.5150G>C	2.37:g.71892384G>C	ENSP00000258104:p.Arg1717Pro					DYSF_uc010feg.2_Missense_Mutation_p.R1748P|DYSF_uc010feh.2_Missense_Mutation_p.R1724P|DYSF_uc002sig.3_Missense_Mutation_p.R1703P|DYSF_uc010yqx.1_RNA|DYSF_uc010fee.2_Missense_Mutation_p.R1738P|DYSF_uc010fef.2_Missense_Mutation_p.R1755P|DYSF_uc010fei.2_Missense_Mutation_p.R1734P|DYSF_uc010fek.2_Missense_Mutation_p.R1735P|DYSF_uc010fej.2_Missense_Mutation_p.R1725P|DYSF_uc010fel.2_Missense_Mutation_p.R1704P|DYSF_uc010feo.2_Missense_Mutation_p.R1749P|DYSF_uc010fem.2_Missense_Mutation_p.R1739P|DYSF_uc010fen.2_Missense_Mutation_p.R1756P|DYSF_uc002sif.2_Missense_Mutation_p.R1718P|DYSF_uc010yqy.1_Missense_Mutation_p.R598P|DYSF_uc010yqz.1_Missense_Mutation_p.R478P	p.R1717P	NM_003494	NP_003485	O75923	DYSF_HUMAN			46	5526	+			1717			Cytoplasmic (Potential).		A0FK00|B1PZ70|B1PZ71|B1PZ72|B1PZ73|B1PZ74|B1PZ75|B1PZ76|B1PZ77|B1PZ78|B1PZ79|B1PZ80|B1PZ81|B3KQB9|O75696|Q09EX5|Q0H395|Q53QY3|Q53TD2|Q8TEL8|Q9UEN7	Missense_Mutation	SNP	ENST00000258104.3	37	c.5150G>C	CCDS1918.1	.	.	.	.	.	.	.	.	.	.	G	5.126	0.208899	0.09757	.	.	ENSG00000135636	ENST00000413539;ENST00000409762;ENST00000409582;ENST00000429174;ENST00000258104;ENST00000409651;ENST00000394120;ENST00000409744;ENST00000409366;ENST00000410020;ENST00000410041	D;D;D;D;D;D;D;D;D;D;D	0.83335	-1.71;-1.71;-1.71;-1.71;-1.71;-1.71;-1.71;-1.71;-1.71;-1.71;-1.71	5.41	-3.84	0.04256	.	1.577600	0.03111	N	0.162429	T	0.77003	0.4067	L	0.45352	1.415	0.09310	N	1	B;B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.27679	0.0;0.001;0.185;0.185;0.185;0.0;0.0;0.0;0.0;0.001;0.001;0.001;0.002;0.002;0.116	B;B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.33454	0.001;0.01;0.164;0.164;0.124;0.003;0.003;0.003;0.001;0.01;0.01;0.01;0.01;0.01;0.058	T	0.60772	-0.7197	10	0.27082	T	0.32	-0.1002	7.8115	0.29234	0.6056:0.0:0.2792:0.1152	.	481;1749;1756;1739;1704;1735;1725;1734;1724;1748;1755;1738;1703;1718;1717	B7Z8G4;O75923-8;O75923-13;O75923-10;O75923-9;O75923-11;O75923-12;O75923-5;O75923-6;O75923-2;O75923-7;O75923-4;O75923-3;O75923-14;O75923	.;.;.;.;.;.;.;.;.;.;.;.;.;.;DYSF_HUMAN	P	1748;1734;1755;1738;1717;1749;1718;1725;1739;1756;1735	ENSP00000407046:R1748P;ENSP00000387137:R1734P;ENSP00000386547:R1755P;ENSP00000398305:R1738P;ENSP00000258104:R1717P;ENSP00000386683:R1749P;ENSP00000377678:R1718P;ENSP00000386285:R1725P;ENSP00000386512:R1739P;ENSP00000386881:R1756P;ENSP00000386617:R1735P	ENSP00000258104:R1717P	R	+	2	0	DYSF	71745892	0.001000	0.12720	0.009000	0.14445	0.213000	0.24496	-0.031000	0.12287	-0.848000	0.04163	-0.140000	0.14226	CGG		0.562	DYSF-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251970.3	NM_003494		34	105	0	0	0	0.005524	0	34	105				
LBX2	85474	broad.mit.edu	37	2	74725136	74725136	+	Missense_Mutation	SNP	G	G	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr2:74725136G>A	ENST00000377566.4	-	2	693	c.515C>T	c.(514-516)cCa>cTa	p.P172L	LBX2_ENST00000550249.1_5'UTR|LBX2_ENST00000341396.2_3'UTR|LBX2_ENST00000460508.3_Missense_Mutation_p.P168L|AC005041.17_ENST00000479098.1_RNA	NM_001282430.1	NP_001269359.1	Q6XYB7	LBX2_HUMAN	ladybird homeobox 2	172					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(1)	4						GCCGGGATCTGGAGCGCCTTC	0.662																																							uc002slv.3		NA																	0					0						c.(514-516)CCA>CTA		ladybird homeobox 2							32.0	35.0	34.0					2																	74725136		2202	4298	6500	SO:0001583	missense	85474					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:74725136G>A	AC005041	CCDS33228.1, CCDS62938.1	2p13.1	2014-05-06	2007-02-15		ENSG00000179528	ENSG00000179528		"""Homeoboxes / ANTP class : NKL subclass"""	15525	protein-coding gene	gene with protein product		607164	"""ladybird homeobox homolog 2 (Drosophila)"""			11386758	Standard	NM_001282430		Approved		uc002slw.3	Q6XYB7	OTTHUMG00000170595	ENST00000377566.4:c.515C>T	2.37:g.74725136G>A	ENSP00000366789:p.Pro172Leu					LBX2_uc002slw.2_Missense_Mutation_p.P168L	p.P172L	NM_001009812	NP_001009812	Q6XYB7	LBX2_HUMAN			2	520	-			172					Q7Z5Y8	Missense_Mutation	SNP	ENST00000377566.4	37	c.515C>T		.	.	.	.	.	.	.	.	.	.	G	13.23	2.175613	0.38413	.	.	ENSG00000179528	ENST00000377566;ENST00000460508	D;D	0.92099	-2.86;-2.97	4.76	0.649	0.17806	.	.	.	.	.	D	0.82765	0.5108	L	0.27053	0.805	0.20764	N	0.999853	B;B	0.22003	0.063;0.001	B;B	0.17433	0.018;0.001	T	0.67252	-0.5717	9	0.25751	T	0.34	.	3.6684	0.08265	0.084:0.1441:0.4753:0.2966	.	168;172	Q6XYB7-2;Q6XYB7	.;LBX2_HUMAN	L	172;168	ENSP00000366789:P172L;ENSP00000417116:P168L	ENSP00000366789:P172L	P	-	2	0	LBX2	74578644	0.008000	0.16893	0.000000	0.03702	0.092000	0.18411	1.524000	0.35942	-0.060000	0.13132	0.561000	0.74099	CCA		0.662	LBX2-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000328490.1	NM_001009812		15	56	0	0	0	0.001882	0	15	56				
LRRTM4	80059	broad.mit.edu	37	2	77745498	77745498	+	Silent	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr2:77745498C>A	ENST00000409093.1	-	3	1833	c.1497G>T	c.(1495-1497)tcG>tcT	p.S499S	LRRTM4_ENST00000409884.1_Silent_p.S499S|LRRTM4_ENST00000409282.1_Silent_p.S500S|LRRTM4_ENST00000409911.1_Silent_p.S500S|LRRTM4_ENST00000409088.3_Silent_p.S499S			Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	499					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)		ATCCATTAACCGATATATCCA	0.463																																							uc002snr.2		NA																	0				pancreas(3)|ovary(1)	4						c.(1495-1497)TCG>TCT		leucine rich repeat transmembrane neuronal 4							84.0	84.0	84.0					2																	77745498		1886	4116	6002	SO:0001819	synonymous_variant	80059					integral to membrane		g.chr2:77745498C>A	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.1497G>T	2.37:g.77745498C>A						LRRTM4_uc002snq.2_Silent_p.S499S|LRRTM4_uc002sns.2_Silent_p.S499S|LRRTM4_uc002snt.2_Silent_p.S500S	p.S499S	NM_001134745	NP_001128217	Q86VH4	LRRT4_HUMAN		Colorectal(11;0.059)	3	1912	-			499			Cytoplasmic (Potential).		Q4FZ98|Q6UXJ7	Silent	SNP	ENST00000409093.1	37	c.1497G>T	CCDS46346.1																																																																																				0.463	LRRTM4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000328225.1	NM_024993		10	11	1	0	0.000673444	0.008291	0.000717534	10	11				
REG1A	5967	broad.mit.edu	37	2	79350055	79350055	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr2:79350055G>T	ENST00000233735.1	+	5	513	c.410G>T	c.(409-411)tGt>tTt	p.C137F		NM_002909.4	NP_002900.2	P05451	REG1A_HUMAN	regenerating islet-derived 1 alpha	137	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				positive regulation of cell proliferation (GO:0008284)	extracellular vesicular exosome (GO:0070062)	carbohydrate binding (GO:0030246)|growth factor activity (GO:0008083)	p.C137F(1)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(26)|prostate(1)|upper_aerodigestive_tract(1)	39						CCTGGCTACTGTGTGAGCCTG	0.567																																							uc002snz.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(409-411)TGT>TTT		regenerating islet-derived 1 alpha precursor							103.0	96.0	99.0					2																	79350055		2203	4300	6503	SO:0001583	missense	5967				positive regulation of cell proliferation	extracellular region	growth factor activity|sugar binding	g.chr2:79350055G>T		CCDS1964.1	2p12	2008-09-04	2008-06-04		ENSG00000115386	ENSG00000115386			9951	protein-coding gene	gene with protein product	"""pancreatic stone protein"", ""pancreatic thread protein"""	167770	"""regenerating islet-derived 1 alpha (pancreatic stone protein, pancreatic thread protein)"""	REG		2332435, 8333731	Standard	NM_002909		Approved	PSP, PTP, PSPS, PSPS1	uc002snz.3	P05451	OTTHUMG00000130016	ENST00000233735.1:c.410G>T	2.37:g.79350055G>T	ENSP00000233735:p.Cys137Phe					REG1A_uc010ysd.1_Missense_Mutation_p.C137F	p.C137F	NM_002909	NP_002900	P05451	REG1A_HUMAN			5	513	+			137			C-type lectin.		P11379|Q4ZG28	Missense_Mutation	SNP	ENST00000233735.1	37	c.410G>T	CCDS1964.1	.	.	.	.	.	.	.	.	.	.	g	17.97	3.517888	0.64634	.	.	ENSG00000115386	ENST00000233735	T	0.62105	0.05	3.15	3.15	0.36227	C-type lectin fold (1);C-type lectin, conserved site (1);C-type lectin-like (1);C-type lectin (3);	0.173798	0.27941	N	0.017239	D	0.85128	0.5626	H	0.98487	4.245	0.47153	D	0.999331	D	0.89917	1.0	D	0.91635	0.999	D	0.88240	0.2909	10	0.87932	D	0	.	9.9324	0.41530	0.0:0.0:1.0:0.0	.	137	P05451	REG1A_HUMAN	F	137	ENSP00000233735:C137F	ENSP00000233735:C137F	C	+	2	0	REG1A	79203563	0.978000	0.34361	0.946000	0.38457	0.429000	0.31625	1.904000	0.39868	1.765000	0.52091	0.557000	0.71058	TGT		0.567	REG1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252289.1	NM_002909		29	45	1	0	3.1745e-13	0.008361	4.13833e-13	29	45				
CD8A	925	broad.mit.edu	37	2	87017616	87017617	+	Missense_Mutation	DNP	CC	CC	AT			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	CC	CC	-	-	CC	CC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr2:87017616_87017617CC>AT	ENST00000409511.2	-	5	1267_1268	c.237_238GG>AT	c.(235-240)aaGGcg>aaATcg	p.A80S	CD8A_ENST00000538832.1_Missense_Mutation_p.A121S|CD8A_ENST00000352580.3_Missense_Mutation_p.A80S|CD8A_ENST00000409781.1_Missense_Mutation_p.A80S|CD8A_ENST00000283635.3_Missense_Mutation_p.A80S|CD8A_ENST00000456996.2_Missense_Mutation_p.A80S	NM_001145873.1	NP_001139345.1	P01732	CD8A_HUMAN	CD8a molecule	80	Ig-like V-type.				antigen processing and presentation (GO:0019882)|cytotoxic T cell differentiation (GO:0045065)|defense response to virus (GO:0051607)|immune response (GO:0006955)|positive regulation of calcium-mediated signaling (GO:0050850)|regulation of immune response (GO:0050776)|T cell activation (GO:0042110)|T cell mediated immunity (GO:0002456)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	coreceptor activity (GO:0015026)|MHC class I protein binding (GO:0042288)			lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	8						CCCTCGGCCGCCTTGGGCTTGT	0.663																																							uc002srt.2		NA																	0				ovary(1)	1						c.(235-240)AAGGCG>AAATCG		CD8 antigen alpha polypeptide isoform 1																																				SO:0001583	missense	925				antigen processing and presentation|regulation of immune response|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular region|integral to plasma membrane|T cell receptor complex	coreceptor activity|MHC class I protein binding	g.chr2:87017616_87017617CC>AT		CCDS1992.1, CCDS1993.1	2p12	2014-09-17	2006-03-28		ENSG00000153563	ENSG00000153563		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	1706	protein-coding gene	gene with protein product		186910	"""CD8 antigen, alpha polypeptide (p32)"", ""T-cell surface glycoprotein CD8 alpha chain"""	CD8		1541829	Standard	NM_171827		Approved		uc002sru.3	P01732	OTTHUMG00000130265	ENST00000409511.2:c.237_238delinsAT	2.37:g.87017616_87017617delinsAT	ENSP00000386559:p.Ala80Ser					RMND5A_uc002srs.3_Intron|CD8A_uc002srv.2_Missense_Mutation_p.A80S|CD8A_uc010ytn.1_Missense_Mutation_p.A121S|CD8A_uc002sru.2_Missense_Mutation_p.A80S	p.A80S	NM_001768	NP_001759	P01732	CD8A_HUMAN			2	1126_1127	-			80			Ig-like V-type.|Extracellular (Potential).		B4DT80|D6W5M8|Q13970|Q4ZG17	Missense_Mutation	DNP	ENST00000409511.2	37	c.237_238GG>AT	CCDS1992.1																																																																																				0.663	CD8A-006	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000330784.3	NM_001768		28	101	0	0	0	0.004672	0	28	101				
VWA3B	200403	broad.mit.edu	37	2	98852870	98852870	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr2:98852870G>T	ENST00000477737.1	+	18	2650	c.2446G>T	c.(2446-2448)Gct>Tct	p.A816S		NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	816										NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						CATCTTGCTGGCTGAGGAGTG	0.443																																							uc002syo.2		NA																	0				ovary(3)|large_intestine(2)|skin(1)	6						c.(2446-2448)GCT>TCT		von Willebrand factor A domain containing 3B							115.0	120.0	119.0					2																	98852870		1941	4157	6098	SO:0001583	missense	200403							g.chr2:98852870G>T	AL832761	CCDS42718.1	2q11.2	2008-02-05			ENSG00000168658	ENSG00000168658			28385	protein-coding gene	gene with protein product						12477932	Standard	NM_144992		Approved	DKFZp686F2227, MGC26733	uc002syo.3	Q502W6	OTTHUMG00000153104	ENST00000477737.1:c.2446G>T	2.37:g.98852870G>T	ENSP00000417955:p.Ala816Ser					VWA3B_uc002syk.1_RNA|VWA3B_uc002syl.1_Missense_Mutation_p.A335S|VWA3B_uc002sym.2_Missense_Mutation_p.A816S|VWA3B_uc002syn.1_RNA|VWA3B_uc010yvi.1_Missense_Mutation_p.A473S|VWA3B_uc002syp.1_Missense_Mutation_p.A208S|VWA3B_uc002syq.1_Missense_Mutation_p.A92S|VWA3B_uc002syr.1_Missense_Mutation_p.A133S|VWA3B_uc010fih.1_5'Flank	p.A816S	NM_144992	NP_659429	Q502W6	VWA3B_HUMAN			18	2710	+			816					B9EK71|Q86T73|Q8N2D0|Q8N770|Q8NA79|Q8ND63|Q8ND65|Q8WW02	Missense_Mutation	SNP	ENST00000477737.1	37	c.2446G>T	CCDS42718.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	0.894|0.894	-0.724546|-0.724546	0.03158|0.03158	.|.	.|.	ENSG00000168658|ENSG00000168658	ENST00000477737|ENST00000473149	T|.	0.05925|.	3.37|.	4.48|4.48	-3.4|-3.4	0.04853|0.04853	.|.	1.295940|.	0.05351|.	N|.	0.531811|.	T|T	0.34890|0.34890	0.0913|0.0913	L|L	0.43152|0.43152	1.355|1.355	0.09310|0.09310	N|N	1|1	B;B;B;B|.	0.21071|.	0.013;0.051;0.013;0.034|.	B;B;B;B|.	0.22601|.	0.015;0.016;0.015;0.04|.	T|T	0.38499|0.38499	-0.9658|-0.9658	10|5	0.11182|.	T|.	0.66|.	.|.	8.5496|8.5496	0.33444|0.33444	0.2746:0.1566:0.5688:0.0|0.2746:0.1566:0.5688:0.0	.|.	208;816;816;816|.	Q502W6-5;Q502W6;Q502W6-8;Q502W6-6|.	.;VWA3B_HUMAN;.;.|.	S|V	816|226	ENSP00000417955:A816S|.	ENSP00000417955:A816S|.	A|G	+|+	1|2	0|0	VWA3B|VWA3B	98219302|98219302	0.002000|0.002000	0.14202|0.14202	0.000000|0.000000	0.03702|0.03702	0.000000|0.000000	0.00434|0.00434	0.167000|0.167000	0.16602|0.16602	-0.908000|-0.908000	0.03857|0.03857	-2.615000|-2.615000	0.00158|0.00158	GCT|GGC		0.443	VWA3B-020	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353469.2	NM_144992		28	108	1	0	6.84511e-11	0.003271	8.57977e-11	28	108				
UNC50	25972	broad.mit.edu	37	2	99234748	99234748	+	Missense_Mutation	SNP	A	A	G			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr2:99234748A>G	ENST00000357765.2	+	6	913	c.761A>G	c.(760-762)tAt>tGt	p.Y254C	UNC50_ENST00000409975.1_Missense_Mutation_p.Y271C|UNC50_ENST00000409347.1_Missense_Mutation_p.Y271C	NM_014044.5	NP_054763.2	Q53HI1	UNC50_HUMAN	unc-50 homolog (C. elegans)	254					cell surface receptor signaling pathway (GO:0007166)|protein transport (GO:0015031)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nuclear inner membrane (GO:0005637)	RNA binding (GO:0003723)			breast(1)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(1)	10						TGTTCTTTCTATAAGTACAGA	0.368																																							uc002szc.3		NA																	0					0						c.(760-762)TAT>TGT		unc-50 homolog							63.0	61.0	61.0					2																	99234748		2203	4300	6503	SO:0001583	missense	25972				protein transport	Golgi membrane|integral to membrane|nuclear inner membrane	RNA binding	g.chr2:99234748A>G		CCDS2035.1	2q12.2	2008-02-05			ENSG00000115446	ENSG00000115446			16046	protein-coding gene	gene with protein product						10980252	Standard	NM_014044		Approved	URP, UNCL, GMH1	uc002szc.4	Q53HI1	OTTHUMG00000130562	ENST00000357765.2:c.761A>G	2.37:g.99234748A>G	ENSP00000350409:p.Tyr254Cys					C2orf64_uc002sza.2_Intron|UNC50_uc002szb.2_Missense_Mutation_p.Y254C|UNC50_uc010yvl.1_Missense_Mutation_p.Y271C	p.Y254C	NM_014044	NP_054763	Q53HI1	UNC50_HUMAN			6	913	+			254			Lumenal (Potential).		D3DVH4|Q53S98|Q53TD6|Q5U5U2|Q6X7B9|Q9UQF4|Q9Y4S6	Missense_Mutation	SNP	ENST00000357765.2	37	c.761A>G	CCDS2035.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	23.9|23.9	4.475630|4.475630	0.84640|0.84640	.|.	.|.	ENSG00000115446|ENSG00000115446	ENST00000423713|ENST00000357765;ENST00000409975;ENST00000409347;ENST00000393493	.|.	.|.	.|.	6.06|6.06	6.06|6.06	0.98353|0.98353	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.85617|0.85617	0.5738|0.5738	M|M	0.91249|0.91249	3.19|3.19	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.97110	.|1.0	D|D	0.88693|0.88693	0.3210|0.3210	5|9	.|0.87932	.|D	.|0	-1.4886|-1.4886	15.7905|15.7905	0.78357|0.78357	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|254	.|Q53HI1	.|UNC50_HUMAN	V|C	87|254;271;271;128	.|.	.|ENSP00000350409:Y254C	I|Y	+|+	1|2	0|0	UNC50|UNC50	98601180|98601180	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.952000|0.952000	0.60782|0.60782	8.809000|8.809000	0.91944|0.91944	2.324000|2.324000	0.78689|0.78689	0.533000|0.533000	0.62120|0.62120	ATA|TAT		0.368	UNC50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252987.1	NM_014044		8	43	0	0	0	0.000978	0	8	43				
GPR45	11250	broad.mit.edu	37	2	105858897	105858897	+	Silent	SNP	C	C	G			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr2:105858897C>G	ENST00000258456.1	+	1	698	c.582C>G	c.(580-582)gcC>gcG	p.A194A		NM_007227.3	NP_009158.3	Q9Y5Y3	GPR45_HUMAN	G protein-coupled receptor 45	194						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	28						CTGACCGCGCCTACGTGGTCA	0.692																																							uc002tco.1		NA																	0				ovary(1)|breast(1)|central_nervous_system(1)	3						c.(580-582)GCC>GCG		G protein-coupled receptor 45							36.0	33.0	34.0					2																	105858897		2203	4300	6503	SO:0001819	synonymous_variant	11250					integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding	g.chr2:105858897C>G	AF118266	CCDS2066.1	2q11.1-q12	2012-08-21			ENSG00000135973	ENSG00000135973		"""GPCR / Class A : Orphans"""	4503	protein-coding gene	gene with protein product		604838				10036181	Standard	NM_007227		Approved	PSP24, PSP24A	uc002tco.1	Q9Y5Y3	OTTHUMG00000130805	ENST00000258456.1:c.582C>G	2.37:g.105858897C>G							p.A194A	NM_007227	NP_009158	Q9Y5Y3	GPR45_HUMAN			1	698	+			194			Extracellular (Potential).		Q6NWS4|Q6NXU6	Silent	SNP	ENST00000258456.1	37	c.582C>G	CCDS2066.1																																																																																				0.692	GPR45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253348.1	NM_007227		19	15	0	0	0	0.008871	0	19	15				
ST6GAL2	84620	broad.mit.edu	37	2	107423223	107423223	+	Missense_Mutation	SNP	C	C	G			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr2:107423223C>G	ENST00000409382.3	-	6	2111	c.1501G>C	c.(1501-1503)Ggg>Cgg	p.G501R	ST6GAL2_ENST00000361686.4_Missense_Mutation_p.G501R	NM_001142351.1	NP_001135823.1	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 2	501					growth (GO:0040007)|multicellular organismal development (GO:0007275)|oligosaccharide metabolic process (GO:0009311)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	beta-galactoside alpha-2,6-sialyltransferase activity (GO:0003835)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						TGCAAATCCCCCTGCGTGCCC	0.587																																							uc002tdq.2		NA																	0				pancreas(6)|ovary(4)|skin(1)	11						c.(1501-1503)GGG>CGG		ST6 beta-galactosamide							104.0	90.0	95.0					2																	107423223		2203	4300	6503	SO:0001583	missense	84620				growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity	g.chr2:107423223C>G	AB059555	CCDS2073.1, CCDS46380.1	2q11-q12	2008-02-05	2005-02-07	2005-02-07	ENSG00000144057	ENSG00000144057	2.4.99.2		10861	protein-coding gene	gene with protein product		608472	"""sialyltransferase 2 (monosialoganglioside sialyltransferase)"""	SIAT2			Standard	NM_032528		Approved	KIAA1877, St6gal2, St6GalII	uc002tdr.3	Q96JF0	OTTHUMG00000130923	ENST00000409382.3:c.1501G>C	2.37:g.107423223C>G	ENSP00000386942:p.Gly501Arg					ST6GAL2_uc002tdr.2_Missense_Mutation_p.G501R	p.G501R	NM_001142351	NP_001135823	Q96JF0	SIAT2_HUMAN			6	1620	-			501			Lumenal (Potential).		D3DVK3|Q53QP4|Q86Y44|Q8IUG7|Q96HE4	Missense_Mutation	SNP	ENST00000409382.3	37	c.1501G>C	CCDS2073.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	8.180|8.180	0.793546|0.793546	0.16327|0.16327	.|.	.|.	ENSG00000144057|ENSG00000144057	ENST00000361803|ENST00000361686;ENST00000409382	.|T;T	.|0.26660	.|1.72;1.72	5.8|5.8	4.91|4.91	0.64330|0.64330	.|.	0.368203|0.368203	0.32258|0.32258	N|N	0.006346|0.006346	T|T	0.16041|0.16041	0.0386|0.0386	N|N	0.12182|0.12182	0.205|0.205	0.80722|0.80722	D|D	1|1	.|B	.|0.15930	.|0.015	.|B	.|0.19666	.|0.026	T|T	0.05683|0.05683	-1.0870|-1.0870	6|10	.|0.16420	.|T	.|0.52	-6.1368|-6.1368	15.9016|15.9016	0.79380|0.79380	0.0:0.8646:0.1354:0.0|0.0:0.8646:0.1354:0.0	.|.	.|501	.|Q96JF0	.|SIAT2_HUMAN	A|R	66|501	.|ENSP00000355273:G501R;ENSP00000386942:G501R	.|ENSP00000355273:G501R	G|G	-|-	2|1	0|0	ST6GAL2|ST6GAL2	106789655|106789655	0.991000|0.991000	0.36638|0.36638	0.065000|0.065000	0.19835|0.19835	0.373000|0.373000	0.29922|0.29922	2.805000|2.805000	0.47939|0.47939	1.410000|1.410000	0.46936|0.46936	0.655000|0.655000	0.94253|0.94253	GGG|GGG		0.587	ST6GAL2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330065.1	NM_032528		46	38	0	0	0	0.00361	0	46	38				
SLC5A7	60482	broad.mit.edu	37	2	108626829	108626829	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr2:108626829C>A	ENST00000264047.2	+	9	1531	c.1255C>A	c.(1255-1257)Ccc>Acc	p.P419T	SLC5A7_ENST00000540517.1_Missense_Mutation_p.P314T|SLC5A7_ENST00000409059.1_Missense_Mutation_p.P419T	NM_021815.2	NP_068587.1	Q9GZV3	SC5A7_HUMAN	solute carrier family 5 (sodium/choline cotransporter), member 7	419					acetylcholine biosynthetic process (GO:0008292)|cell death (GO:0008219)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	choline binding (GO:0033265)|choline transmembrane transporter activity (GO:0015220)|choline:sodium symporter activity (GO:0005307)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49					Choline(DB00122)	CGTTATCTTCCCCCAGCTGCT	0.502																																							uc002tdv.2		NA																	0				ovary(2)|central_nervous_system(1)|skin(1)	4						c.(1255-1257)CCC>ACC		solute carrier family 5 (choline transporter),	Choline(DB00122)						273.0	221.0	238.0					2																	108626829		2203	4300	6503	SO:0001583	missense	60482				acetylcholine biosynthetic process|neurotransmitter secretion	integral to membrane|plasma membrane	choline:sodium symporter activity	g.chr2:108626829C>A	AF276871	CCDS2074.1	2q12	2013-07-19	2013-07-19		ENSG00000115665	ENSG00000115665		"""Solute carriers"""	14025	protein-coding gene	gene with protein product		608761	"""solute carrier family 5 (choline transporter), member 7"""			11027560	Standard	NM_021815		Approved	hCHT, CHT1	uc002tdv.3	Q9GZV3	OTTHUMG00000130959	ENST00000264047.2:c.1255C>A	2.37:g.108626829C>A	ENSP00000264047:p.Pro419Thr					SLC5A7_uc010ywm.1_Missense_Mutation_p.P172T|SLC5A7_uc010fjj.2_Missense_Mutation_p.P419T|SLC5A7_uc010ywn.1_Missense_Mutation_p.P306T	p.P419T	NM_021815	NP_068587	Q9GZV3	SC5A7_HUMAN			9	1531	+			419			Helical; (Potential).		Q53TF2	Missense_Mutation	SNP	ENST00000264047.2	37	c.1255C>A	CCDS2074.1	.	.	.	.	.	.	.	.	.	.	C	28.9	4.962489	0.92791	.	.	ENSG00000115665	ENST00000409059;ENST00000540517;ENST00000264047	D;D;D	0.88896	-2.44;-2.44;-2.44	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	D	0.96334	0.8804	M	0.93854	3.465	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96530	0.9392	10	0.87932	D	0	-19.404	20.4024	0.99000	0.0:1.0:0.0:0.0	.	419	Q9GZV3	SC5A7_HUMAN	T	419;314;419	ENSP00000387346:P419T;ENSP00000445351:P314T;ENSP00000264047:P419T	ENSP00000264047:P419T	P	+	1	0	SLC5A7	107993261	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.818000	0.86416	2.827000	0.97445	0.650000	0.86243	CCC		0.502	SLC5A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253562.1			25	57	1	0	3.11337e-16	0.002836	4.2682e-16	25	57				
GCC2	9648	broad.mit.edu	37	2	109085530	109085530	+	Missense_Mutation	SNP	A	A	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr2:109085530A>T	ENST00000309863.6	+	5	1025	c.311A>T	c.(310-312)cAa>cTa	p.Q104L		NM_181453.3	NP_852118	Q8IWJ2	GCC2_HUMAN	GRIP and coiled-coil domain containing 2	104					Golgi ribbon formation (GO:0090161)|late endosome to Golgi transport (GO:0034499)|microtubule anchoring (GO:0034453)|microtubule organizing center organization (GO:0031023)|protein localization to Golgi apparatus (GO:0034067)|protein targeting to Golgi (GO:0000042)|protein targeting to lysosome (GO:0006622)|recycling endosome to Golgi transport (GO:0071955)|regulation of protein exit from endoplasmic reticulum (GO:0070861)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	identical protein binding (GO:0042802)			breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						AAAATGAAGCAAGAGGTTGAG	0.313																																							uc002tec.2		NA																	0				ovary(1)	1						c.(310-312)CAA>CTA		GRIP and coiled-coil domain-containing 2							74.0	83.0	80.0					2																	109085530		2203	4300	6503	SO:0001583	missense	9648				Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum	membrane|trans-Golgi network	identical protein binding	g.chr2:109085530A>T	BC020645	CCDS33268.1	2q12.3	2008-02-05	2004-03-05		ENSG00000135968	ENSG00000135968			23218	protein-coding gene	gene with protein product		612711	"""GRIP and coiled-coil domain-containing 2"""			12446665	Standard	NM_181453		Approved	GCC185, KIAA0336	uc002tec.3	Q8IWJ2	OTTHUMG00000153214	ENST00000309863.6:c.311A>T	2.37:g.109085530A>T	ENSP00000307939:p.Gln104Leu					GCC2_uc002ted.2_Missense_Mutation_p.Q3L	p.Q104L	NM_181453	NP_852118	Q8IWJ2	GCC2_HUMAN			5	465	+			104					A6H8X8|O15045|Q4ZG46|Q8TDH3|Q9H2G8	Missense_Mutation	SNP	ENST00000309863.6	37	c.311A>T	CCDS33268.1	.	.	.	.	.	.	.	.	.	.	A	15.00	2.703463	0.48412	.	.	ENSG00000135968	ENST00000435553;ENST00000309863;ENST00000409821;ENST00000409896	T	0.37411	1.2	4.67	4.67	0.58626	.	0.207021	0.42053	D	0.000780	T	0.25901	0.0631	L	0.34521	1.04	0.45205	D	0.998219	B	0.34103	0.437	B	0.30029	0.11	T	0.11717	-1.0576	10	0.72032	D	0.01	.	9.9038	0.41364	0.8479:0.0:0.0:0.1521	.	104	Q8IWJ2	GCC2_HUMAN	L	104;104;107;67	ENSP00000307939:Q104L	ENSP00000307939:Q104L	Q	+	2	0	GCC2	108451962	1.000000	0.71417	0.996000	0.52242	0.982000	0.71751	5.194000	0.65125	2.078000	0.62432	0.377000	0.23210	CAA		0.313	GCC2-014	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358516.3	NM_014635		20	54	0	0	0	0.00333	0	20	54				
MERTK	10461	broad.mit.edu	37	2	112751865	112751865	+	Missense_Mutation	SNP	G	G	T	rs202242962		TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr2:112751865G>T	ENST00000295408.4	+	9	1591	c.1334G>T	c.(1333-1335)cGa>cTa	p.R445L	MERTK_ENST00000409780.1_Missense_Mutation_p.R269L|MERTK_ENST00000421804.2_Missense_Mutation_p.R445L			Q12866	MERTK_HUMAN	MER proto-oncogene, tyrosine kinase	445	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				apoptotic cell clearance (GO:0043277)|blood coagulation (GO:0007596)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|leukocyte migration (GO:0050900)|natural killer cell differentiation (GO:0001779)|negative regulation of lymphocyte activation (GO:0051250)|peptidyl-tyrosine phosphorylation (GO:0018108)|phagocytosis (GO:0006909)|platelet activation (GO:0030168)|positive regulation of phagocytosis (GO:0050766)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|retina development in camera-type eye (GO:0060041)|secretion by cell (GO:0032940)|spermatogenesis (GO:0007283)|substrate adhesion-dependent cell spreading (GO:0034446)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|rhabdomere (GO:0016028)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.R445Q(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						AATGGCAGCCGAGCTCGGATC	0.527																																							uc002thk.1		NA																	1	Substitution - Missense(1)		large_intestine(1)	lung(6)|upper_aerodigestive_tract(1)|stomach(1)|kidney(1)	9						c.(1333-1335)CGA>CTA		MER receptor tyrosine kinase precursor							119.0	117.0	118.0					2																	112751865		2203	4300	6503	SO:0001583	missense	10461				cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr2:112751865G>T	U08023	CCDS2094.1	2q14.1	2014-06-26	2014-06-26		ENSG00000153208	ENSG00000153208		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7027	protein-coding gene	gene with protein product		604705	"""c-mer proto-oncogene tyrosine kinase"""			8086340, 10343112	Standard	XM_005263565		Approved	mer, RP38	uc002thk.1	Q12866	OTTHUMG00000131278	ENST00000295408.4:c.1334G>T	2.37:g.112751865G>T	ENSP00000295408:p.Arg445Leu					MERTK_uc002thl.1_Missense_Mutation_p.R269L	p.R445L	NM_006343	NP_006334	Q12866	MERTK_HUMAN			9	1456	+			445			Fibronectin type-III 2.|Extracellular (Potential).		Q9HBB4	Missense_Mutation	SNP	ENST00000295408.4	37	c.1334G>T	CCDS2094.1	.	.	.	.	.	.	.	.	.	.	G	0.011	-1.707585	0.00712	.	.	ENSG00000153208	ENST00000295408;ENST00000421804;ENST00000393237;ENST00000409780	T;T;T	0.53206	0.63;0.63;0.63	4.95	-9.89	0.00464	Fibronectin, type III (3);Immunoglobulin-like fold (1);	2.361860	0.02365	N	0.077284	T	0.21962	0.0529	N	0.05554	-0.025	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.15665	-1.0429	10	0.09843	T	0.71	0.0	10.0875	0.42428	0.2231:0.0:0.6026:0.1742	.	445	Q12866	MERTK_HUMAN	L	445;445;40;269	ENSP00000295408:R445L;ENSP00000389152:R445L;ENSP00000387277:R269L	ENSP00000295408:R445L	R	+	2	0	MERTK	112468336	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	-3.075000	0.00616	-2.863000	0.00326	-1.423000	0.01107	CGA		0.527	MERTK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254046.2			61	128	1	0	7.75977e-34	0.00361	1.20827e-33	61	128				
DDX18	8886	broad.mit.edu	37	2	118575196	118575196	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr2:118575196C>A	ENST00000263239.2	+	2	390	c.262C>A	c.(262-264)Cag>Aag	p.Q88K	DDX18_ENST00000474694.1_3'UTR	NM_006773.3	NP_006764.3	Q9NVP1	DDX18_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 18	88					ATP catabolic process (GO:0006200)	membrane (GO:0016020)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						AAAGTCTCCCCAGAAATCCAC	0.363																																							uc002tlh.1		NA																	0				breast(2)|ovary(1)|lung(1)	4						c.(262-264)CAG>AAG		DEAD (Asp-Glu-Ala-Asp) box polypeptide 18							85.0	97.0	93.0					2																	118575196		2203	4300	6503	SO:0001583	missense	8886						ATP binding|ATP-dependent RNA helicase activity|RNA binding	g.chr2:118575196C>A	X98743	CCDS2120.1	2q21.2	2008-02-05	2003-06-13		ENSG00000088205	ENSG00000088205		"""DEAD-boxes"""	2741	protein-coding gene	gene with protein product		606355	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 18 (Myc-regulated)"""			8861962	Standard	NM_006773		Approved	MrDb	uc002tlh.1	Q9NVP1	OTTHUMG00000058521	ENST00000263239.2:c.262C>A	2.37:g.118575196C>A	ENSP00000263239:p.Gln88Lys						p.Q88K	NM_006773	NP_006764	Q9NVP1	DDX18_HUMAN			2	361	+			88					Q6GTZ9|Q6IAU4|Q92732|Q9BQB7	Missense_Mutation	SNP	ENST00000263239.2	37	c.262C>A	CCDS2120.1	.	.	.	.	.	.	.	.	.	.	C	1.315	-0.601053	0.03744	.	.	ENSG00000088205	ENST00000263239	T	0.21191	2.02	4.01	3.01	0.34805	.	1.344300	0.04524	N	0.385239	T	0.10680	0.0261	N	0.11364	0.135	0.20196	N	0.999922	B	0.02656	0.0	B	0.01281	0.0	T	0.24190	-1.0167	10	0.02654	T	1	5.659	7.3603	0.26742	0.4763:0.5237:0.0:0.0	.	88	Q9NVP1	DDX18_HUMAN	K	88	ENSP00000263239:Q88K	ENSP00000263239:Q88K	Q	+	1	0	DDX18	118291666	0.660000	0.27420	0.238000	0.24106	0.341000	0.28922	2.121000	0.41977	0.913000	0.36797	0.655000	0.94253	CAG		0.363	DDX18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129632.3	NM_006773		9	100	1	0	2.17888e-05	0.006214	2.40535e-05	9	100				
CFC1	55997	broad.mit.edu	37	2	131356263	131356263	+	Missense_Mutation	SNP	C	C	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr2:131356263C>T	ENST00000259216.4	-	3	461	c.199G>A	c.(199-201)Ggc>Agc	p.G67S		NM_032545.3	NP_115934.1	P0CG37	CFC1_HUMAN	cripto, FRL-1, cryptic family 1	67					determination of left/right symmetry (GO:0007368)|gastrulation (GO:0007369)|nodal signaling pathway (GO:0038092)	anchored component of membrane (GO:0031225)|extracellular region (GO:0005576)|plasma membrane (GO:0005886)	nodal binding (GO:0038100)			endometrium(1)|lung(4)	5	Colorectal(110;0.1)					GGCCCCCAGCCCTCGGCGCTC	0.632																																							uc002tro.1		NA																	0					0						c.(199-201)GGC>AGC		cripto, FRL-1, cryptic family 1B							25.0	39.0	34.0					2																	131356263		2185	4286	6471	SO:0001583	missense	653275				gastrulation	extracellular region		g.chr2:131356263C>T	AF312769	CCDS2162.1, CCDS74573.1, CCDS74574.1	2q21.2	2014-02-04			ENSG00000136698	ENSG00000136698			18292	protein-coding gene	gene with protein product		605194	"""heterotaxy 2 (autosomal dominant)"""	HTX2		11062482, 10858660	Standard	NM_032545		Approved	CRYPTIC, HTX2	uc002tro.2	P0CG37	OTTHUMG00000131628	ENST00000259216.4:c.199G>A	2.37:g.131356263C>T	ENSP00000259216:p.Gly67Ser						p.G67S	NM_001079530	NP_001072998	P0CG36	CFC1B_HUMAN			3	590	-	Colorectal(110;0.1)		67					B2RCY0|B9EJD3|Q53T05|Q9GZR3	Missense_Mutation	SNP	ENST00000259216.4	37	c.199G>A	CCDS2162.1	.	.	.	.	.	.	.	.	.	.	.	7.312	0.615283	0.14129	.	.	ENSG00000136698	ENST00000259216	D	0.88896	-2.44	1.91	-0.0927	0.13655	.	0.708168	0.12235	N	0.487094	T	0.77928	0.4204	L	0.41710	1.295	0.09310	N	1	B	0.32781	0.384	B	0.23716	0.048	T	0.63431	-0.6639	10	0.30078	T	0.28	-39.3713	3.0229	0.06082	0.0:0.5186:0.292:0.1893	.	67	P0CG37	CFC1_HUMAN	S	67	ENSP00000259216:G67S	ENSP00000259216:G67S	G	-	1	0	CFC1	131072733	0.000000	0.05858	0.038000	0.18304	0.014000	0.08584	-1.033000	0.03571	-0.037000	0.13646	-0.662000	0.03851	GGC		0.632	CFC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333367.1	NM_032545		19	53	0	0	0	0.002836	0	19	53				
AMER3	205147	broad.mit.edu	37	2	131521517	131521517	+	Silent	SNP	A	A	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr2:131521517A>T	ENST00000423981.1	+	2	1982	c.1872A>T	c.(1870-1872)acA>acT	p.T624T	AMER3_ENST00000321420.4_Silent_p.T624T	NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2	NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2	Q8N944	AMER3_HUMAN	APC membrane recruitment protein 3	624					Wnt signaling pathway (GO:0016055)	plasma membrane (GO:0005886)	lipid binding (GO:0008289)										CTTCGACAACAGATACTTCCG	0.582																																							uc002trw.2		NA																	0				pancreas(2)|ovary(1)	3						c.(1870-1872)ACA>ACT		hypothetical protein LOC205147							56.0	59.0	58.0					2																	131521517		2203	4300	6503	SO:0001819	synonymous_variant	205147							g.chr2:131521517A>T	AK095696	CCDS2164.1	2q21.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000178171	ENSG00000178171		"""-"""	26771	protein-coding gene	gene with protein product			"""family with sequence similarity 123C"""	FAM123C		20843316	Standard	NM_001105195		Approved	FLJ38377	uc002trw.2	Q8N944	OTTHUMG00000131637	ENST00000423981.1:c.1872A>T	2.37:g.131521517A>T						FAM123C_uc010fmv.2_Silent_p.T624T|FAM123C_uc010fms.1_Silent_p.T624T|FAM123C_uc010fmt.1_Silent_p.T624T|FAM123C_uc010fmu.1_Silent_p.T624T	p.T624T	NM_152698	NP_689911	Q8N944	F123C_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.13)	2	2062	+	Colorectal(110;0.1)		624					B7ZLH6	Silent	SNP	ENST00000423981.1	37	c.1872A>T	CCDS2164.1																																																																																				0.582	AMER3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254531.3	NM_152698		17	35	0	0	0	0.010504	0	17	35				
ARHGEF4	50649	broad.mit.edu	37	2	131796570	131796570	+	Missense_Mutation	SNP	G	G	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr2:131796570G>A	ENST00000326016.5	+	6	1231	c.712G>A	c.(712-714)Gat>Aat	p.D238N	ARHGEF4_ENST00000392953.3_Missense_Mutation_p.D238N|ARHGEF4_ENST00000355771.3_Missense_Mutation_p.D167N|ARHGEF4_ENST00000525839.1_Missense_Mutation_p.D238N|ARHGEF4_ENST00000409303.1_Missense_Mutation_p.D238N|ARHGEF4_ENST00000439368.2_3'UTR|ARHGEF4_ENST00000428230.2_Intron	NM_015320.2	NP_056135.2	Q9NR80	ARHG4_HUMAN	Rho guanine nucleotide exchange factor (GEF) 4	238	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				apoptotic signaling pathway (GO:0097190)|filopodium assembly (GO:0046847)|lamellipodium assembly (GO:0030032)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell projection (GO:0042995)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|protein domain specific binding (GO:0019904)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)	p.D238Y(1)		NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(4)	29		Prostate(154;0.055)		BRCA - Breast invasive adenocarcinoma(221;0.097)		CCGGGTCGCCGATGGCGAGGG	0.592																																							uc002tsa.1		NA																	1	Substitution - Missense(1)		lung(1)	breast(3)|ovary(2)|skin(1)	6						c.(712-714)GAT>AAT		Rho guanine nucleotide exchange factor 4 isoform							57.0	51.0	53.0					2																	131796570		2203	4300	6503	SO:0001583	missense	50649				apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|lamellipodium assembly|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|ruffle membrane	protein domain specific binding|Rac guanyl-nucleotide exchange factor activity	g.chr2:131796570G>A	AL137289	CCDS2165.1, CCDS42754.1	2q22	2013-01-10			ENSG00000136002	ENSG00000136002		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	684	protein-coding gene	gene with protein product	"""APC-stimulated guanine nucleotide exchange factor"""	605216				10873612	Standard	NM_015320		Approved	STM6, KIAA1112, ASEF	uc002tsa.1	Q9NR80	OTTHUMG00000131657	ENST00000326016.5:c.712G>A	2.37:g.131796570G>A	ENSP00000316845:p.Asp238Asn					ARHGEF4_uc010fmw.1_Intron|ARHGEF4_uc002tsb.1_Missense_Mutation_p.D238N|ARHGEF4_uc010fmx.1_Missense_Mutation_p.D238N|ARHGEF4_uc002tsc.1_5'Flank	p.D238N	NM_015320	NP_056135	Q9NR80	ARHG4_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.097)	6	1232	+		Prostate(154;0.055)	238			SH3.		Q9HDC6|Q9UPP0	Missense_Mutation	SNP	ENST00000326016.5	37	c.712G>A	CCDS2165.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.098794	0.76870	.	.	ENSG00000136002	ENST00000326016;ENST00000392953;ENST00000525839;ENST00000409303;ENST00000355771	T;T;T;T;T	0.47177	0.85;0.85;0.85;0.85;0.85	4.57	4.57	0.56435	Src homology-3 domain (4);	0.000000	0.85682	D	0.000000	T	0.56396	0.1982	L	0.28776	0.89	0.58432	D	0.999999	D;D;D	0.76494	0.999;0.994;0.999	D;D;D	0.72982	0.979;0.922;0.979	T	0.60100	-0.7329	10	0.59425	D	0.04	.	15.1989	0.73120	0.0:0.0:1.0:0.0	.	238;238;238	E9PEM0;Q9NR80-4;Q9NR80	.;.;ARHG4_HUMAN	N	238;238;238;238;167	ENSP00000316845:D238N;ENSP00000376680:D238N;ENSP00000432267:D238N;ENSP00000387285:D238N;ENSP00000348017:D167N	ENSP00000316845:D238N	D	+	1	0	ARHGEF4	131513040	1.000000	0.71417	0.011000	0.14972	0.336000	0.28762	9.053000	0.93860	2.248000	0.74166	0.563000	0.77884	GAT		0.592	ARHGEF4-001	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000254554.4			4	36	0	0	0	0.001168	0	4	36				
TUBA3D	113457	broad.mit.edu	37	2	132240245	132240245	+	Missense_Mutation	SNP	C	C	G			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr2:132240245C>G	ENST00000321253.6	+	5	1284	c.1177C>G	c.(1177-1179)Cat>Gat	p.H393D	MZT2A_ENST00000410036.2_5'Flank	NM_080386.3	NP_525125.2	Q13748	TBA3C_HUMAN	tubulin, alpha 3d	393					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	32				BRCA - Breast invasive adenocarcinoma(221;0.13)		CCGCCTGGACCATAAGTTCGA	0.652																																					Ovarian(137;2059 2432 35543 39401)	Ovarian(137;2059 2432 35543 39401)	uc002tsu.3		NA																	0					0						c.(1177-1179)CAT>GAT		tubulin, alpha 3d							112.0	110.0	111.0					2																	132240245		2203	4300	6503	SO:0001583	missense	113457				'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	g.chr2:132240245C>G	K03460	CCDS33290.1	2q21.1	2007-03-16			ENSG00000075886	ENSG00000075886		"""Tubulins"""	24071	protein-coding gene	gene with protein product	"""alpha-tubulin isotype H2-alpha"""					3785200	Standard	NM_080386		Approved	H2-ALPHA	uc002tsu.4	Q13748	OTTHUMG00000153600	ENST00000321253.6:c.1177C>G	2.37:g.132240245C>G	ENSP00000326042:p.His393Asp						p.H393D	NM_080386	NP_525125	Q13748	TBA3C_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.13)	5	1284	+			393					A6NJQ0|Q5W099|Q6PEY3|Q96F18	Missense_Mutation	SNP	ENST00000321253.6	37	c.1177C>G	CCDS33290.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	9.829|9.829	1.187896|1.187896	0.21954|0.21954	.|.	.|.	ENSG00000075886|ENSG00000075886	ENST00000321253|ENST00000341158	D|.	0.83591|.	-1.74|.	2.41|2.41	2.41|2.41	0.29592|0.29592	Tubulin/FtsZ, 2-layer sandwich domain (1);Tubulin, C-terminal (1);Tubulin/FtsZ, C-terminal (1);|.	0.000000|.	0.47852|.	U|.	0.000215|.	T|T	0.74313|0.74313	0.3700|0.3700	M|M	0.83603|0.83603	2.65|2.65	0.45490|0.45490	D|D	0.998459|0.998459	B|.	0.02656|.	0.0|.	B|.	0.30251|.	0.113|.	T|T	0.77991|0.77991	-0.2379|-0.2379	10|6	0.87932|0.87932	D|D	0|0	.|.	10.5186|10.5186	0.44905|0.44905	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	393|.	Q13748|.	TBA3C_HUMAN|.	D|V	393|393	ENSP00000326042:H393D|.	ENSP00000326042:H393D|ENSP00000344440:L393V	H|L	+|+	1|1	0|2	TUBA3D|TUBA3D	131956715|131956715	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.808000|0.808000	0.45660|0.45660	7.053000|7.053000	0.76641|0.76641	1.334000|1.334000	0.45468|0.45468	0.194000|0.194000	0.17425|0.17425	CAT|CTG		0.652	TUBA3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331800.2	NM_080386		26	172	0	0	0	0.005443	0	26	172				
R3HDM1	23518	broad.mit.edu	37	2	136389479	136389479	+	Silent	SNP	A	A	G			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr2:136389479A>G	ENST00000264160.4	+	9	976	c.606A>G	c.(604-606)ctA>ctG	p.L202L	R3HDM1_ENST00000409606.1_Silent_p.L202L|R3HDM1_ENST00000329971.3_Silent_p.L158L|R3HDM1_ENST00000410054.1_Silent_p.L146L|R3HDM1_ENST00000409478.1_Silent_p.L158L	NM_001282798.1|NM_015361.2	NP_001269727.1|NP_056176.2	Q15032	R3HD1_HUMAN	R3H domain containing 1	202	R3H. {ECO:0000255|PROSITE- ProRule:PRU00382}.						poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(6)|kidney(5)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	38				BRCA - Breast invasive adenocarcinoma(221;0.127)		ATAGGATGCTATTACACAGAG	0.393																																							uc002tuo.2		NA																	0				skin(1)	1						c.(604-606)CTA>CTG		R3H domain containing 1							127.0	128.0	128.0					2																	136389479		2203	4300	6503	SO:0001819	synonymous_variant	23518						nucleic acid binding	g.chr2:136389479A>G	D21852	CCDS2177.1, CCDS63024.1, CCDS63025.1, CCDS63026.1	2q21.3	2012-09-20	2005-09-02	2005-09-02	ENSG00000048991	ENSG00000048991			9757	protein-coding gene	gene with protein product			"""R3H domain (binds single-stranded nucleic acids) containing"""	R3HDM		7584026	Standard	NM_001282798		Approved	KIAA0029	uc002tuo.3	Q15032	OTTHUMG00000131740	ENST00000264160.4:c.606A>G	2.37:g.136389479A>G						R3HDM1_uc010fni.2_Silent_p.L200L|R3HDM1_uc002tup.2_Silent_p.L146L|R3HDM1_uc010zbh.1_Silent_p.L34L	p.L202L	NM_015361	NP_056176	Q15032	R3HD1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.127)	9	976	+			202			R3H.		A8K1V0|B3KXQ9|E9PBB4|E9PG42|G5E9G8|Q8IW32	Silent	SNP	ENST00000264160.4	37	c.606A>G	CCDS2177.1	.	.	.	.	.	.	.	.	.	.	A	9.676	1.147888	0.21288	.	.	ENSG00000048991	ENST00000456040	.	.	.	5.76	-9.45	0.00600	.	.	.	.	.	T	0.50292	0.1607	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.61608	-0.7028	4	.	.	.	-10.2106	11.4187	0.49967	0.226:0.2832:0.4908:0.0	.	.	.	.	C	185	.	.	Y	+	2	0	R3HDM1	136105949	0.963000	0.33076	0.398000	0.26321	0.993000	0.82548	0.181000	0.16880	-2.194000	0.00753	-0.297000	0.09499	TAT		0.393	R3HDM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254659.1	NM_015361		27	149	0	0	0	0.008361	0	27	149				
MCM6	4175	broad.mit.edu	37	2	136609035	136609035	+	Silent	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr2:136609035C>A	ENST00000264156.2	-	13	1914	c.1854G>T	c.(1852-1854)gtG>gtT	p.V618V	MCM6_ENST00000492091.1_5'UTR	NM_005915.5	NP_005906.2	Q14566	MCM6_HUMAN	minichromosome maintenance complex component 6	618					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)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA helicase activity (GO:0003678)|identical protein binding (GO:0042802)|single-stranded DNA binding (GO:0003697)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(15)|prostate(2)|skin(1)	29				BRCA - Breast invasive adenocarcinoma(221;0.166)		CAAGCTGTCGCACTGTAATCC	0.458																																					Ovarian(196;141 2104 8848 24991 25939)	Ovarian(196;141 2104 8848 24991 25939)	uc002tuw.2		NA																	0					0						c.(1852-1854)GTG>GTT		minichromosome maintenance complex component 6	Atorvastatin(DB01076)						138.0	110.0	120.0					2																	136609035		2203	4300	6503	SO:0001819	synonymous_variant	4175				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|identical protein binding	g.chr2:136609035C>A		CCDS2179.1	2q14-q21	2008-02-05	2007-04-04		ENSG00000076003	ENSG00000076003			6949	protein-coding gene	gene with protein product	"""MIS5 homolog (S.pombe)"""	601806	"""minichromosome maintenance deficient (mis5, S. pombe) 6"", ""MCM6 minichromosome maintenance deficient 6 (MIS5 homolog, S. pombe) (S. cerevisiae)"", ""minichromosome maintenance deficient 6 homolog (S. cerevisiae)"""				Standard	NM_005915		Approved	Mis5	uc002tuw.4	Q14566	OTTHUMG00000131739	ENST00000264156.2:c.1854G>T	2.37:g.136609035C>A							p.V618V	NM_005915	NP_005906	Q14566	MCM6_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.166)	13	1930	-			618					B2R6H2|Q13504|Q99859	Silent	SNP	ENST00000264156.2	37	c.1854G>T	CCDS2179.1																																																																																				0.458	MCM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254658.1	NM_005915		27	18	1	0	1.74807e-11	0.002096	2.21305e-11	27	18				
LRP1B	53353	broad.mit.edu	37	2	141762928	141762928	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr2:141762928C>A	ENST00000389484.3	-	15	3450	c.2479G>T	c.(2479-2481)Gat>Tat	p.D827Y		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	827	EGF-like 4. {ECO:0000255|PROSITE- ProRule:PRU00076}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CCATTTTCATCCAAAAGTTGA	0.428										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	Colon(99;50 2074 2507 20106)	uc002tvj.1		NA																	0				lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50						c.(2479-2481)GAT>TAT		low density lipoprotein-related protein 1B							71.0	69.0	70.0					2																	141762928		2203	4300	6503	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141762928C>A	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.2479G>T	2.37:g.141762928C>A	ENSP00000374135:p.Asp827Tyr	TSP Lung(27;0.18)				LRP1B_uc010fnl.1_Intron	p.D827Y	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	15	3451	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	827			Extracellular (Potential).|EGF-like 3.		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.2479G>T	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.570417	0.86542	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.96587	-4.06	5.99	5.99	0.97316	.	0.217306	0.37483	U	0.002078	D	0.96747	0.8938	M	0.64404	1.975	0.54753	D	0.999981	D	0.53885	0.963	P	0.50490	0.642	D	0.96482	0.9357	10	0.59425	D	0.04	.	20.4777	0.99188	0.0:1.0:0.0:0.0	.	827	Q9NZR2	LRP1B_HUMAN	Y	827;765	ENSP00000374135:D827Y	ENSP00000374135:D827Y	D	-	1	0	LRP1B	141479398	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.896000	0.56266	2.840000	0.97914	0.655000	0.94253	GAT		0.428	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		7	44	1	0	2.0095e-06	0.001984	2.27053e-06	7	44				
ARHGAP15	55843	broad.mit.edu	37	2	143913201	143913201	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr2:143913201G>T	ENST00000295095.6	+	2	309	c.142G>T	c.(142-144)Gat>Tat	p.D48Y	ARHGAP15_ENST00000409869.1_Missense_Mutation_p.D48Y	NM_018460.3	NP_060930.3	Q53QZ3	RHG15_HUMAN	Rho GTPase activating protein 15	48					positive regulation of Rac GTPase activity (GO:0032855)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)			endometrium(1)|kidney(5)|large_intestine(8)|liver(2)|lung(15)|ovary(1)|skin(2)	34				BRCA - Breast invasive adenocarcinoma(221;0.151)		GATCCTCACCGATGTCGGGAA	0.423																																							uc002tvm.3		NA																	0				ovary(1)|skin(1)	2						c.(142-144)GAT>TAT		ARHGAP15							107.0	96.0	100.0					2																	143913201		2203	4300	6503	SO:0001583	missense	55843				regulation of cell shape|small GTPase mediated signal transduction	cytosol|membrane	protein binding|Rac GTPase activator activity	g.chr2:143913201G>T	AY219338	CCDS2184.1	2q22.2-q22.3	2013-01-10			ENSG00000075884	ENSG00000075884		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	21030	protein-coding gene	gene with protein product		610578				12650940, 11042152	Standard	NM_018460		Approved	BM046	uc002tvm.4	Q53QZ3	OTTHUMG00000131845	ENST00000295095.6:c.142G>T	2.37:g.143913201G>T	ENSP00000295095:p.Asp48Tyr					ARHGAP15_uc010zbl.1_Missense_Mutation_p.D48Y	p.D48Y	NM_018460	NP_060930	Q53QZ3	RHG15_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.151)	2	293	+			48					Q53R36|Q53RD7|Q53RT6|Q53SX9|Q584N9|Q6PJE6|Q86WP1|Q8IXX1|Q9NRL8|Q9NZ77|Q9NZ91	Missense_Mutation	SNP	ENST00000295095.6	37	c.142G>T	CCDS2184.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.266760	0.80358	.	.	ENSG00000075884	ENST00000409869;ENST00000295095	T	0.08807	3.05	6.07	6.07	0.98685	.	0.053328	0.85682	D	0.000000	T	0.20414	0.0491	L	0.29908	0.895	0.51482	D	0.999927	D;D	0.76494	0.999;0.957	D;P	0.64410	0.925;0.48	T	0.00175	-1.1954	10	0.87932	D	0	.	20.6439	0.99570	0.0:0.0:1.0:0.0	.	48;48	B4E0R3;Q53QZ3	.;RHG15_HUMAN	Y	48	ENSP00000295095:D48Y	ENSP00000295095:D48Y	D	+	1	0	ARHGAP15	143629671	1.000000	0.71417	0.922000	0.36590	0.923000	0.55619	6.780000	0.75063	2.884000	0.98904	0.655000	0.94253	GAT		0.423	ARHGAP15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254793.2	NM_018460		22	59	1	0	2.27525e-19	0.003954	3.23342e-19	22	59				
RIF1	55183	broad.mit.edu	37	2	152319895	152319895	+	Silent	SNP	A	A	C			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr2:152319895A>C	ENST00000243326.5	+	29	4344	c.3861A>C	c.(3859-3861)tcA>tcC	p.S1287S	RIF1_ENST00000444746.2_Silent_p.S1287S|RIF1_ENST00000453091.2_Silent_p.S1287S|RIF1_ENST00000428287.2_Silent_p.S1287S|RIF1_ENST00000430328.2_Silent_p.S1287S			Q9Y581	INSL6_HUMAN	replication timing regulatory factor 1	0					fertilization (GO:0009566)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|sperm motility (GO:0030317)|spermatid development (GO:0007286)	extracellular region (GO:0005576)	hormone activity (GO:0005179)			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		CTAAGAGATCAAGCCGGAGAG	0.378																																							uc002txm.2		NA																	0				ovary(5)|breast(4)|skin(3)|lung(2)|kidney(1)	15						c.(3859-3861)TCA>TCC		RAP1 interacting factor 1							75.0	82.0	80.0					2																	152319895		2203	4299	6502	SO:0001819	synonymous_variant	55183				cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding	g.chr2:152319895A>C	AK022932	CCDS2194.1, CCDS54406.1	2q23.3	2014-06-02	2014-06-02		ENSG00000080345	ENSG00000080345			23207	protein-coding gene	gene with protein product		608952	"""RAP1 interacting factor homolog (yeast)"""			15342490, 15042697, 22850674	Standard	NM_018151		Approved	FLJ12870, FLJ10599	uc002txm.3	Q5UIP0	OTTHUMG00000131886	ENST00000243326.5:c.3861A>C	2.37:g.152319895A>C						RIF1_uc002txl.2_Silent_p.S1287S|RIF1_uc002txn.2_Silent_p.S1287S|RIF1_uc002txo.2_Silent_p.S1287S|RIF1_uc002txp.2_RNA	p.S1287S	NM_018151	NP_060621	Q5UIP0	RIF1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0429)	30	3991	+			1287					A0AVS0|Q9NS16	Silent	SNP	ENST00000243326.5	37	c.3861A>C	CCDS2194.1																																																																																				0.378	RIF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254836.3			7	80	0	0	0	0.004482	0	7	80				
NEB	4703	broad.mit.edu	37	2	152487259	152487259	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr2:152487259C>A	ENST00000172853.10	-	63	9111	c.8964G>T	c.(8962-8964)ttG>ttT	p.L2988F	NEB_ENST00000603639.1_Missense_Mutation_p.L3231F|NEB_ENST00000397345.3_Missense_Mutation_p.L3231F|NEB_ENST00000409198.1_Missense_Mutation_p.L2988F|NEB_ENST00000427231.2_Missense_Mutation_p.L3231F|NEB_ENST00000604864.1_Missense_Mutation_p.L3231F			P20929	NEBU_HUMAN	nebulin	2988					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TCTGCCTTGCCAACATAATCT	0.398																																							uc010fnx.2		NA																	0				ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1)	20						c.(8962-8964)TTG>TTT		nebulin isoform 3							167.0	144.0	151.0					2																	152487259		1949	4164	6113	SO:0001583	missense	4703				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle	g.chr2:152487259C>A	X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.8964G>T	2.37:g.152487259C>A	ENSP00000172853:p.Leu2988Phe					NEB_uc002txu.2_Missense_Mutation_p.L335F	p.L2988F	NM_004543	NP_004534	P20929	NEBU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.219)	63	9155	-			2988			Nebulin 81.		F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	ENST00000172853.10	37	c.8964G>T		.	.	.	.	.	.	.	.	.	.	C	18.17	3.564123	0.65651	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000172853	T;T;T;T	0.49720	0.77;0.77;0.77;0.77	5.6	4.71	0.59529	.	0.000000	0.64402	D	0.000002	T	0.70020	0.3176	M	0.88570	2.965	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.72337	-0.4324	10	0.37606	T	0.19	.	10.7031	0.45939	0.1315:0.7995:0.0:0.0691	.	2988	P20929	NEBU_HUMAN	F	2988;3231;3231;2988	ENSP00000386259:L2988F;ENSP00000380505:L3231F;ENSP00000416578:L3231F;ENSP00000172853:L2988F	ENSP00000172853:L2988F	L	-	3	2	NEB	152195505	0.745000	0.28261	0.995000	0.50966	0.977000	0.68977	0.388000	0.20735	1.475000	0.48197	0.563000	0.77884	TTG		0.398	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		3	11	1	0	0.00909568	0.009096	0.00941286	3	11				
NEB	4703	broad.mit.edu	37	2	152506830	152506830	+	Missense_Mutation	SNP	C	C	G			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr2:152506830C>G	ENST00000172853.10	-	54	7438	c.7291G>C	c.(7291-7293)Gag>Cag	p.E2431Q	NEB_ENST00000603639.1_Missense_Mutation_p.E2431Q|NEB_ENST00000397345.3_Missense_Mutation_p.E2431Q|NEB_ENST00000409198.1_Missense_Mutation_p.E2431Q|NEB_ENST00000427231.2_Missense_Mutation_p.E2431Q|NEB_ENST00000604864.1_Missense_Mutation_p.E2431Q			P20929	NEBU_HUMAN	nebulin	2431					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TTTTCTGCCTCTAAAGAACCC	0.453																																							uc010fnx.2		NA																	0				ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1)	20	GRCh37	CM064140	NEB	M		c.(7291-7293)GAG>CAG		nebulin isoform 3							121.0	112.0	115.0					2																	152506830		1853	4108	5961	SO:0001583	missense	4703				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle	g.chr2:152506830C>G	X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.7291G>C	2.37:g.152506830C>G	ENSP00000172853:p.Glu2431Gln						p.E2431Q	NM_004543	NP_004534	P20929	NEBU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.219)	54	7482	-			2431			Nebulin 65.		F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	ENST00000172853.10	37	c.7291G>C		.	.	.	.	.	.	.	.	.	.	C	26.6	4.751582	0.89753	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000172853	T;T;T;T	0.07567	3.18;3.21;3.21;3.25	5.37	5.37	0.77165	.	0.060281	0.64402	D	0.000004	T	0.21718	0.0523	L	0.44542	1.39	0.80722	D	1	D	0.71674	0.998	D	0.64506	0.926	T	0.00321	-1.1819	10	0.38643	T	0.18	.	19.1125	0.93323	0.0:1.0:0.0:0.0	.	2431	P20929	NEBU_HUMAN	Q	2431	ENSP00000386259:E2431Q;ENSP00000380505:E2431Q;ENSP00000416578:E2431Q;ENSP00000172853:E2431Q	ENSP00000172853:E2431Q	E	-	1	0	NEB	152215076	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	6.043000	0.71004	2.527000	0.85204	0.650000	0.86243	GAG		0.453	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		18	74	0	0	0	0.00278	0	18	74				
TANC1	85461	broad.mit.edu	37	2	160007013	160007013	+	Missense_Mutation	SNP	G	G	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr2:160007013G>A	ENST00000263635.6	+	7	865	c.628G>A	c.(628-630)Gag>Aag	p.E210K	TANC1_ENST00000454300.1_Intron	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	210	Ser-rich.				dendritic spine maintenance (GO:0097062)|myoblast fusion (GO:0007520)|visual learning (GO:0008542)	axon terminus (GO:0043679)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)				breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						AAGTCCCTGTGAGACCATTAG	0.502																																							uc002uag.2		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(628-630)GAG>AAG		tetratricopeptide repeat, ankyrin repeat and							89.0	90.0	90.0					2																	160007013		2039	4201	6240	SO:0001583	missense	85461					cell junction|postsynaptic density|postsynaptic membrane	binding	g.chr2:160007013G>A	AB051515	CCDS42766.1	2q24.2	2013-01-11			ENSG00000115183	ENSG00000115183		"""Ankyrin repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	29364	protein-coding gene	gene with protein product	"""rolling pebbles homolog B (Drosophila)"""	611397				15673434	Standard	NM_033394		Approved	KIAA1728, ROLSB	uc002uag.3	Q9C0D5	OTTHUMG00000153945	ENST00000263635.6:c.628G>A	2.37:g.160007013G>A	ENSP00000263635:p.Glu210Lys					TANC1_uc010fol.1_Intron|TANC1_uc010zcm.1_Missense_Mutation_p.E209K|TANC1_uc010fom.1_Intron|TANC1_uc002uah.1_3'UTR	p.E210K	NM_033394	NP_203752	Q9C0D5	TANC1_HUMAN			7	902	+			210			Ser-rich.		C9JD88|Q49AI8	Missense_Mutation	SNP	ENST00000263635.6	37	c.628G>A	CCDS42766.1	.	.	.	.	.	.	.	.	.	.	G	15.14	2.746223	0.49257	.	.	ENSG00000115183	ENST00000263635	T	0.29142	1.58	5.34	5.34	0.76211	.	0.284743	0.34002	N	0.004355	T	0.26882	0.0658	N	0.22421	0.69	0.80722	D	1	B;B	0.25850	0.094;0.136	B;B	0.27887	0.054;0.084	T	0.06162	-1.0842	10	0.56958	D	0.05	.	19.4231	0.94729	0.0:0.0:1.0:0.0	.	209;210	B9EK39;Q9C0D5	.;TANC1_HUMAN	K	210	ENSP00000263635:E210K	ENSP00000263635:E210K	E	+	1	0	TANC1	159715259	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.608000	0.67654	2.665000	0.90641	0.563000	0.77884	GAG		0.502	TANC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333135.1			11	87	0	0	0	0.000978	0	11	87				
DPP4	1803	broad.mit.edu	37	2	162894883	162894883	+	Missense_Mutation	SNP	G	G	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr2:162894883G>A	ENST00000360534.3	-	8	1102	c.542C>T	c.(541-543)cCa>cTa	p.P181L		NM_001935.3	NP_001926.2	P27487	DPP4_HUMAN	dipeptidyl-peptidase 4	181					cell adhesion (GO:0007155)|endothelial cell migration (GO:0043542)|negative regulation of extracellular matrix disassembly (GO:0010716)|positive regulation of cell proliferation (GO:0008284)|regulation of cell-cell adhesion mediated by integrin (GO:0033632)|response to hypoxia (GO:0001666)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intercellular canaliculus (GO:0046581)|invadopodium membrane (GO:0071438)|lamellipodium (GO:0030027)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)	dipeptidyl-peptidase activity (GO:0008239)|identical protein binding (GO:0042802)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	48					Alogliptin(DB06203)|Atorvastatin(DB01076)|Linagliptin(DB08882)|Liraglutide(DB06655)|Saxagliptin(DB06335)|Sitagliptin(DB01261)|Vildagliptin(DB04876)	TCTGTAACTTGGTAAATTTGG	0.289																																							uc002ubz.2		NA																	0				ovary(3)	3						c.(541-543)CCA>CTA		dipeptidylpeptidase IV	Sitagliptin(DB01261)						65.0	64.0	65.0					2																	162894883		2201	4285	6486	SO:0001583	missense	1803				cell adhesion|endothelial cell migration|negative regulation of extracellular matrix disassembly|positive regulation of cell proliferation|proteolysis|regulation of cell-cell adhesion mediated by integrin|response to hypoxia|T cell activation|T cell costimulation	apical plasma membrane|cell surface|endocytic vesicle|extracellular region|integral to membrane|invadopodium membrane|lamellipodium membrane|membrane raft	aminopeptidase activity|dipeptidyl-peptidase activity|protease binding|protein homodimerization activity|receptor activity|receptor binding|serine-type endopeptidase activity	g.chr2:162894883G>A	M74777	CCDS2216.1	2q24.2	2013-09-19	2008-08-01		ENSG00000197635	ENSG00000197635	3.4.14.5	"""CD molecules"""	3009	protein-coding gene	gene with protein product		102720	"""dipeptidylpeptidase IV (CD26, adenosine deaminase complexing protein 2)"", ""adenosine deaminase complexing protein 2"""	CD26, ADCP2		8101391	Standard	NM_001935		Approved	DPPIV	uc002ubz.3	P27487	OTTHUMG00000132056	ENST00000360534.3:c.542C>T	2.37:g.162894883G>A	ENSP00000353731:p.Pro181Leu					DPP4_uc010fpb.2_5'UTR|DPP4_uc002uca.1_RNA|DPP4_uc002ucb.1_RNA	p.P181L	NM_001935	NP_001926	P27487	DPP4_HUMAN			8	1103	-			181			Extracellular (Potential).		Q53TN1	Missense_Mutation	SNP	ENST00000360534.3	37	c.542C>T	CCDS2216.1	.	.	.	.	.	.	.	.	.	.	G	14.36	2.511744	0.44660	.	.	ENSG00000197635	ENST00000360534	D	0.95788	-3.81	6.03	4.09	0.47781	Peptidase S9B, dipeptidylpeptidase IV N-terminal (1);	1.178380	0.05814	N	0.614545	D	0.93035	0.7783	L	0.39397	1.21	0.09310	N	0.999993	B	0.15719	0.014	B	0.17098	0.017	D	0.84297	0.0503	10	0.56958	D	0.05	-20.7482	9.8009	0.40764	0.0:0.2294:0.5244:0.2462	.	181	P27487	DPP4_HUMAN	L	181	ENSP00000353731:P181L	ENSP00000353731:P181L	P	-	2	0	DPP4	162603129	0.002000	0.14202	0.832000	0.32986	0.961000	0.63080	1.123000	0.31308	1.499000	0.48617	0.557000	0.71058	CCA		0.289	DPP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255079.2			5	47	0	0	0	0.000602	0	5	47				
GCG	2641	broad.mit.edu	37	2	163003990	163003990	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr2:163003990C>A	ENST00000418842.2	-	3	381	c.127G>T	c.(127-129)Gat>Tat	p.D43Y	GCG_ENST00000375497.3_Missense_Mutation_p.D43Y	NM_002054.4	NP_002045.1	P01275	GLUC_HUMAN	glucagon	43					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cell proliferation (GO:0008283)|cellular protein metabolic process (GO:0044267)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|feeding behavior (GO:0007631)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of apoptotic process (GO:0043066)|negative regulation of execution phase of apoptosis (GO:1900118)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|positive regulation of calcium ion import (GO:0090280)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of protein binding (GO:0032092)|positive regulation of protein kinase activity (GO:0045860)|protein kinase A signaling (GO:0010737)|regulation of insulin secretion (GO:0050796)|response to starvation (GO:0042594)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)|secretory granule lumen (GO:0034774)	glucagon receptor binding (GO:0031769)|hormone activity (GO:0005179)|identical protein binding (GO:0042802)|receptor binding (GO:0005102)	p.D43N(2)		breast(1)|central_nervous_system(1)|large_intestine(3)|lung(9)	14						TGATCAGGATCACTGAGTGGG	0.483																																							uc002ucc.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(127-129)GAT>TAT		glucagon preproprotein	Exenatide(DB01276)|Phentolamine(DB00692)						273.0	270.0	271.0					2																	163003990		2040	4193	6233	SO:0001583	missense	2641				cell proliferation|cellular response to glucagon stimulus|energy reserve metabolic process|feeding behavior|regulation of insulin secretion	plasma membrane|soluble fraction	hormone activity	g.chr2:163003990C>A		CCDS46439.1	2q36-q37	2013-02-26			ENSG00000115263	ENSG00000115263		"""Endogenous ligands"""	4191	protein-coding gene	gene with protein product	"""glicentin-related polypeptide"", ""glucagon-like peptide 1"", ""glucagon-like peptide 2"", ""preproglucagon"""	138030				2753890, 3725587	Standard	NM_002054		Approved	GLP1, GLP2, GRPP	uc002ucc.4	P01275	OTTHUMG00000153892	ENST00000418842.2:c.127G>T	2.37:g.163003990C>A	ENSP00000387662:p.Asp43Tyr						p.D43Y	NM_002054	NP_002045	P01275	GLUC_HUMAN			3	226	-			43					A6NN65|Q53TP6	Missense_Mutation	SNP	ENST00000418842.2	37	c.127G>T	CCDS46439.1	.	.	.	.	.	.	.	.	.	.	C	14.30	2.494960	0.44352	.	.	ENSG00000115263	ENST00000418842;ENST00000375497	T;T	0.53423	0.62;0.62	5.64	3.86	0.44501	.	0.376030	0.32273	N	0.006332	T	0.46698	0.1406	M	0.71581	2.175	0.52099	D	0.999948	B	0.34181	0.44	B	0.32022	0.139	T	0.51426	-0.8707	10	0.87932	D	0	25.9301	12.0396	0.53446	0.0:0.8625:0.0:0.1375	.	43	P01275	GLUC_HUMAN	Y	43	ENSP00000387662:D43Y;ENSP00000364647:D43Y	ENSP00000364647:D43Y	D	-	1	0	GCG	162712236	0.994000	0.37717	0.013000	0.15412	0.003000	0.03518	4.188000	0.58351	0.942000	0.37525	-0.142000	0.14014	GAT		0.483	GCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332860.1	NM_002054		47	262	1	0	3.10202e-16	0.00361	4.25842e-16	47	262				
KCNH7	90134	broad.mit.edu	37	2	163360955	163360955	+	Nonsense_Mutation	SNP	G	G	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr2:163360955G>A	ENST00000332142.5	-	6	1225	c.1126C>T	c.(1126-1128)Cag>Tag	p.Q376*	KCNH7_ENST00000477019.1_5'UTR|KCNH7_ENST00000328032.4_Nonsense_Mutation_p.Q369*	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	376					circadian rhythm (GO:0007623)|potassium ion transmembrane transport (GO:0071805)|protein heterooligomerization (GO:0051291)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)|signal transducer activity (GO:0004871)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Doxazosin(DB00590)|Ibutilide(DB00308)|Miconazole(DB01110)|Prazosin(DB00457)|Terazosin(DB01162)	TGTCCTACCTGGGTCACTTTC	0.358																																					GBM(196;1492 2208 17507 24132 45496)	GBM(196;1492 2208 17507 24132 45496)	uc002uch.1		NA																	0				ovary(3)|skin(2)	5						c.(1126-1128)CAG>TAG		potassium voltage-gated channel, subfamily H,	Ibutilide(DB00308)						143.0	141.0	142.0					2																	163360955		2203	4300	6503	SO:0001587	stop_gained	90134				regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity	g.chr2:163360955G>A	AF032897	CCDS2219.1, CCDS2220.1	2q24.3	2012-07-05			ENSG00000184611	ENSG00000184611		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18863	protein-coding gene	gene with protein product		608169				16382104	Standard	NM_173162		Approved	Kv11.3, HERG3, erg3	uc002uch.2	Q9NS40	OTTHUMG00000132069	ENST00000332142.5:c.1126C>T	2.37:g.163360955G>A	ENSP00000331727:p.Gln376*					KCNH7_uc002uci.2_Nonsense_Mutation_p.Q369*	p.Q376*	NM_033272	NP_150375	Q9NS40	KCNH7_HUMAN			6	1338	-			376			Cytoplasmic (Potential).		Q53QU4|Q53TB7|Q53TP9|Q8IV15	Nonsense_Mutation	SNP	ENST00000332142.5	37	c.1126C>T	CCDS2219.1	.	.	.	.	.	.	.	.	.	.	G	38	6.649506	0.97734	.	.	ENSG00000184611	ENST00000332142;ENST00000328032	.	.	.	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.41790	T	0.15	.	20.0716	0.97726	0.0:0.0:1.0:0.0	.	.	.	.	X	376;369	.	ENSP00000333781:Q369X	Q	-	1	0	KCNH7	163069201	1.000000	0.71417	1.000000	0.80357	0.836000	0.47400	9.841000	0.99482	2.741000	0.93983	0.585000	0.79938	CAG		0.358	KCNH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255093.1	NM_033272		23	119	0	0	0	0.00632	0	23	119				
TTC21B	79809	broad.mit.edu	37	2	166769059	166769059	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr2:166769059C>A	ENST00000243344.7	-	17	2424	c.2287G>T	c.(2287-2289)Ggc>Tgc	p.G763C		NM_024753.4	NP_079029.3	Q7Z4L5	TT21B_HUMAN	tetratricopeptide repeat domain 21B	763					forebrain dorsal/ventral pattern formation (GO:0021798)|intraciliary retrograde transport (GO:0035721)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|protein localization to cilium (GO:0061512)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|smoothened signaling pathway (GO:0007224)|ventricular system development (GO:0021591)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intraciliary transport particle A (GO:0030991)|nuclear chromatin (GO:0000790)				breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(9)|lung(28)|ovary(2)|pancreas(2)|skin(2)|urinary_tract(1)	58						AGTGCTTTGCCCATTTTGCTT	0.363																																							uc002udk.2		NA																	0				ovary(2)|pancreas(2)|breast(1)	5						c.(2287-2289)GGC>TGC		tetratricopeptide repeat domain 21B							382.0	352.0	362.0					2																	166769059		2203	4300	6503	SO:0001583	missense	79809					cilium axoneme|cytoplasm|cytoskeleton	binding	g.chr2:166769059C>A	AB082523	CCDS33315.1	2q24.3	2014-09-04			ENSG00000123607	ENSG00000123607		"""Tetratricopeptide (TTC) repeat domain containing"", ""Intraflagellar transport homologs"""	25660	protein-coding gene	gene with protein product		612014				12056414, 21258341	Standard	NM_024753		Approved	FLJ11457, JBTS11, NPHP12, IFT139, THM1	uc002udk.3	Q7Z4L5	OTTHUMG00000154083	ENST00000243344.7:c.2287G>T	2.37:g.166769059C>A	ENSP00000243344:p.Gly763Cys						p.G763C	NM_024753	NP_079029	Q7Z4L5	TT21B_HUMAN			17	2420	-			763			TPR 10.		A8MUZ3|Q3LIE4|Q53T84|Q6P4A1|Q6PIF5|Q8NCN3|Q96MA4|Q9HAK8	Missense_Mutation	SNP	ENST00000243344.7	37	c.2287G>T	CCDS33315.1	.	.	.	.	.	.	.	.	.	.	C	17.28	3.349320	0.61183	.	.	ENSG00000123607	ENST00000243344	T	0.66638	-0.22	5.2	5.2	0.72013	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	D	0.90424	0.7002	H	0.99600	4.65	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94699	0.7881	10	0.72032	D	0.01	-9.241	18.7162	0.91677	0.0:1.0:0.0:0.0	.	763	Q7Z4L5	TT21B_HUMAN	C	763	ENSP00000243344:G763C	ENSP00000243344:G763C	G	-	1	0	TTC21B	166477305	1.000000	0.71417	1.000000	0.80357	0.102000	0.19082	7.475000	0.81041	2.405000	0.81733	0.557000	0.71058	GGC		0.363	TTC21B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333770.1	NM_024753		15	194	1	0	3.45872e-05	0.004007	3.80572e-05	15	194				
STK39	27347	broad.mit.edu	37	2	168921829	168921829	+	Splice_Site	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr2:168921829C>A	ENST00000355999.4	-	13	2010	c.1305G>T	c.(1303-1305)caG>caT	p.Q435H	STK39_ENST00000487143.1_5'UTR	NM_013233.2	NP_037365.2	Q9UEW8	STK39_HUMAN	serine threonine kinase 39	435					cellular hypotonic response (GO:0071476)|intracellular signal transduction (GO:0035556)|negative regulation of potassium ion transmembrane transport (GO:1901380)|negative regulation of potassium ion transmembrane transporter activity (GO:1901017)|negative regulation of rubidium ion transmembrane transporter activity (GO:2000687)|negative regulation of rubidium ion transport (GO:2000681)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of potassium ion transport (GO:0043268)|protein phosphorylation (GO:0006468)|regulation of inflammatory response (GO:0050727)|response to stress (GO:0006950)|signal transduction by phosphorylation (GO:0023014)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|skin(2)	13						AGAAACATACCTGAGAGTCGT	0.453																																							uc002uea.2		NA																	0				central_nervous_system(1)|skin(1)	2						c.(1303-1305)CAG>CAT		serine threonine kinase 39 (STE20/SPS1 homolog,							158.0	159.0	159.0					2																	168921829		2022	4182	6204	SO:0001630	splice_region_variant	27347				response to stress	cytoplasm|nucleus	ATP binding|protein binding|receptor signaling protein serine/threonine kinase activity	g.chr2:168921829C>A	AF099989	CCDS42770.1	2q24.3	2010-06-25	2010-06-25		ENSG00000198648	ENSG00000198648			17717	protein-coding gene	gene with protein product	"""STE20/SPS1 homolog (yeast)"""	607648				10980603	Standard	NM_013233		Approved	DCHT, SPAK	uc002uea.3	Q9UEW8	OTTHUMG00000133745	ENST00000355999.4:c.1305+1G>T	2.37:g.168921829C>A							p.Q435H	NM_013233	NP_037365	Q9UEW8	STK39_HUMAN			13	1465	-			435					O14774|Q53S90|Q53SL7|Q53SS1|Q9UER4|X5D9C8	Missense_Mutation	SNP	ENST00000355999.4	37	c.1305G>T	CCDS42770.1	.	.	.	.	.	.	.	.	.	.	C	16.43	3.122148	0.56613	.	.	ENSG00000198648	ENST00000355999	T	0.74002	-0.8	5.81	5.81	0.92471	.	0.278003	0.36665	N	0.002469	T	0.69052	0.3068	L	0.42245	1.32	0.53688	D	0.99997	B	0.12013	0.005	B	0.12156	0.007	T	0.61302	-0.7090	9	.	.	.	-60.6622	19.2079	0.93742	0.0:1.0:0.0:0.0	.	435	Q9UEW8	STK39_HUMAN	H	435	ENSP00000348278:Q435H	.	Q	-	3	2	STK39	168630075	1.000000	0.71417	1.000000	0.80357	0.737000	0.42083	4.738000	0.62073	2.906000	0.99361	0.655000	0.94253	CAG		0.453	STK39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258112.2	NM_013233	Missense_Mutation	91	77	1	0	4.00015e-43	0.00361	6.38631e-43	91	77				
SSB	6741	broad.mit.edu	37	2	170657490	170657490	+	Missense_Mutation	SNP	A	A	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr2:170657490A>T	ENST00000409333.1	+	2	267	c.20A>T	c.(19-21)aAt>aTt	p.N7I	SSB_ENST00000260956.4_Missense_Mutation_p.N7I			P05455	LA_HUMAN	Sjogren syndrome antigen B (autoantigen La)	7	HTH La-type RNA-binding. {ECO:0000255|PROSITE-ProRule:PRU00332}.				histone mRNA metabolic process (GO:0008334)|tRNA modification (GO:0006400)	nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|tRNA binding (GO:0000049)			endometrium(3)|large_intestine(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						AATGGTGATAATGAAAAGATG	0.328																																							uc002ufk.2		NA																	0				skin(3)|pancreas(1)	4						c.(19-21)AAT>ATT		autoantigen La							79.0	87.0	84.0					2																	170657490		2203	4300	6503	SO:0001583	missense	6741				histone mRNA metabolic process|tRNA modification	nucleus|ribonucleoprotein complex	mRNA binding|nucleotide binding|protein binding|tRNA binding	g.chr2:170657490A>T		CCDS2237.1	2q31.1	2014-02-14		2005-06-16	ENSG00000138385	ENSG00000138385		"""La ribonucleoprotein domain containing"", ""RNA binding motif (RRM) containing"""	11316	protein-coding gene	gene with protein product	"""La ribonucleoprotein domain family, member 3"""	109090					Standard	NM_003142		Approved	LARP3, La, La/SSB	uc002ufk.3	P05455	OTTHUMG00000132212	ENST00000409333.1:c.20A>T	2.37:g.170657490A>T	ENSP00000386636:p.Asn7Ile					SSB_uc002ufl.2_Missense_Mutation_p.N7I|SSB_uc002ufm.2_Missense_Mutation_p.N7I	p.N7I	NM_003142	NP_003133	P05455	LA_HUMAN			2	127	+			7			HTH La-type RNA-binding.		Q15367|Q53XJ4	Missense_Mutation	SNP	ENST00000409333.1	37	c.20A>T	CCDS2237.1	.	.	.	.	.	.	.	.	.	.	A	12.92	2.081031	0.36758	.	.	ENSG00000138385	ENST00000422006;ENST00000260956;ENST00000409005;ENST00000409333	T;T;T	0.46451	0.91;0.87;0.87	5.21	1.04	0.20106	RNA-binding protein Lupus La (1);	0.549745	0.21474	N	0.073960	T	0.19765	0.0475	N	0.08118	0	0.35026	D	0.758273	B;B	0.25719	0.07;0.132	B;B	0.21708	0.019;0.036	T	0.11916	-1.0568	10	0.41790	T	0.15	-16.122	7.6803	0.28509	0.4643:0.0:0.5357:0.0	.	7;7	E9PFH8;P05455	.;LA_HUMAN	I	7	ENSP00000397029:N7I;ENSP00000260956:N7I;ENSP00000386636:N7I	ENSP00000260956:N7I	N	+	2	0	SSB	170365736	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.095000	0.30964	0.324000	0.23333	0.460000	0.39030	AAT		0.328	SSB-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333316.1	NM_003142		28	76	0	0	0	0.004878	0	28	76				
GORASP2	26003	broad.mit.edu	37	2	171812965	171812965	+	Missense_Mutation	SNP	A	A	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr2:171812965A>T	ENST00000234160.4	+	7	1534	c.719A>T	c.(718-720)aAt>aTt	p.N240I	GORASP2_ENST00000493692.1_Intron|GORASP2_ENST00000452526.2_Missense_Mutation_p.N252I	NM_001201428.1|NM_015530.4	NP_001188357.1|NP_056345.3	Q9H8Y8	GORS2_HUMAN	golgi reassembly stacking protein 2, 55kDa	240					mitotic cell cycle (GO:0000278)|organelle organization (GO:0006996)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	14						TCCTCAGTTAATCCCCCGTCT	0.388																																							uc002ugk.2		NA																	0				breast(1)|central_nervous_system(1)	2						c.(718-720)AAT>ATT		golgi reassembly stacking protein 2							96.0	92.0	93.0					2																	171812965		2203	4300	6503	SO:0001583	missense	26003					Golgi membrane		g.chr2:171812965A>T		CCDS33325.1	2q31.1	2012-09-20	2002-08-29		ENSG00000115806	ENSG00000115806			17500	protein-coding gene	gene with protein product		608693	"""golgi reassembly stacking protein 2, 55 kDa"""			10487747	Standard	NM_015530		Approved	GRASP55, GRS2, GOLPH6	uc002ugj.3	Q9H8Y8	OTTHUMG00000154072	ENST00000234160.4:c.719A>T	2.37:g.171812965A>T	ENSP00000234160:p.Asn240Ile					GORASP2_uc002ugj.2_Missense_Mutation_p.N172I|GORASP2_uc010zdl.1_Missense_Mutation_p.N252I|GORASP2_uc010zdm.1_Missense_Mutation_p.N196I|GORASP2_uc002ugl.2_Missense_Mutation_p.N172I|GORASP2_uc002ugm.2_Missense_Mutation_p.N22I	p.N240I	NM_015530	NP_056345	Q9H8Y8	GORS2_HUMAN			7	859	+			240					B4DKT0|Q53TE3|Q96I74|Q96K84|Q9H946|Q9UFW4	Missense_Mutation	SNP	ENST00000234160.4	37	c.719A>T	CCDS33325.1	.	.	.	.	.	.	.	.	.	.	A	14.42	2.530026	0.45073	.	.	ENSG00000115806	ENST00000234160;ENST00000452526	T;T	0.47869	0.85;0.83	5.89	4.75	0.60458	.	0.310318	0.38326	N	0.001739	T	0.42154	0.1190	M	0.62723	1.935	0.34973	D	0.75338	B;B;P	0.35383	0.028;0.004;0.498	B;B;B	0.30401	0.01;0.004;0.115	T	0.54118	-0.8341	10	0.34782	T	0.22	-5.1648	11.1498	0.48451	0.9274:0.0:0.0726:0.0	.	196;252;240	B4DNR1;B4DKT0;Q9H8Y8	.;.;GORS2_HUMAN	I	240;252	ENSP00000234160:N240I;ENSP00000410208:N252I	ENSP00000234160:N240I	N	+	2	0	GORASP2	171521211	1.000000	0.71417	0.982000	0.44146	0.997000	0.91878	1.716000	0.37981	1.065000	0.40693	0.533000	0.62120	AAT		0.388	GORASP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333719.2			9	73	0	0	0	0.008291	0	9	73				
SP3	6670	broad.mit.edu	37	2	174820238	174820238	+	Silent	SNP	G	G	C			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr2:174820238G>C	ENST00000310015.6	-	4	1532	c.1002C>G	c.(1000-1002)tcC>tcG	p.S334S	SP3_ENST00000483084.1_5'Flank|SP3_ENST00000455789.2_Silent_p.S281S|SP3_ENST00000418194.2_Silent_p.S266S	NM_001172712.1|NM_003111.4	NP_001166183.1|NP_003102.1	Q02447	SP3_HUMAN	Sp3 transcription factor	334					B cell differentiation (GO:0030183)|definitive hemopoiesis (GO:0060216)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic placenta development (GO:0001892)|embryonic process involved in female pregnancy (GO:0060136)|embryonic skeletal system development (GO:0048706)|enucleate erythrocyte differentiation (GO:0043353)|granulocyte differentiation (GO:0030851)|liver development (GO:0001889)|lung development (GO:0030324)|megakaryocyte differentiation (GO:0030219)|monocyte differentiation (GO:0030224)|natural killer cell differentiation (GO:0001779)|negative regulation of transcription, DNA-templated (GO:0045892)|ossification (GO:0001503)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|T cell differentiation (GO:0030217)|trophectodermal cell differentiation (GO:0001829)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|double-stranded DNA binding (GO:0003690)|metal ion binding (GO:0046872)|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 sequence-specific DNA binding (GO:0000979)		EWSR1/SP3(3)	NS(2)|large_intestine(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.185)			GTGATGAAGAGGATGTTGGCA	0.378																																							uc002uig.2		NA																EWSR1/SP3(3)	0				soft_tissue(3)|upper_aerodigestive_tract(1)|ovary(1)|skin(1)	6						c.(1000-1002)TCC>TCG		Sp3 transcription factor isoform 1							129.0	130.0	129.0					2																	174820238		2203	4300	6503	SO:0001819	synonymous_variant	6670				negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	PML body	protein binding|zinc ion binding	g.chr2:174820238G>C	M97191	CCDS2254.1, CCDS46452.1	2q31	2013-01-08			ENSG00000172845	ENSG00000172845		"""Specificity protein transcription factors"", ""Zinc fingers, C2H2-type"""	11208	protein-coding gene	gene with protein product		601804				1341900, 1454515	Standard	NM_003111		Approved	SPR-2	uc002uig.3	Q02447	OTTHUMG00000132333	ENST00000310015.6:c.1002C>G	2.37:g.174820238G>C						SP3_uc002uie.2_Silent_p.S266S|SP3_uc002uif.2_Silent_p.S281S|SP3_uc010zel.1_Silent_p.S331S	p.S334S	NM_003111	NP_003102	Q02447	SP3_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.185)		4	1166	-			334					A0AVL9|B4E2B7|Q69B26|Q69B27|Q8TD56|Q8WWU4|Q9BQR1	Silent	SNP	ENST00000310015.6	37	c.1002C>G	CCDS2254.1	.	.	.	.	.	.	.	.	.	.	G	2.888	-0.230295	0.05983	.	.	ENSG00000172845	ENST00000416195	.	.	.	5.51	4.63	0.57726	.	.	.	.	.	T	0.55449	0.1921	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.53556	-0.8422	4	.	.	.	.	5.9375	0.19173	0.0751:0.1261:0.6527:0.1462	.	.	.	.	R	291	.	.	P	-	2	0	SP3	174528484	0.953000	0.32496	1.000000	0.80357	0.998000	0.95712	0.307000	0.19296	1.315000	0.45114	0.563000	0.77884	CCT		0.378	SP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255452.1	NM_003111		23	144	0	0	0	0.002445	0	23	144				
CHRNA1	1134	broad.mit.edu	37	2	175614771	175614771	+	Missense_Mutation	SNP	A	A	G			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr2:175614771A>G	ENST00000261007.5	-	8	1046	c.980T>C	c.(979-981)aTg>aCg	p.M327T	CHRNA1_ENST00000409542.1_Missense_Mutation_p.M220T|CHRNA1_ENST00000409219.1_Missense_Mutation_p.M302T|CHRNA1_ENST00000348749.5_Missense_Mutation_p.M302T|AC018890.6_ENST00000442996.1_RNA	NM_001039523.2	NP_001034612.1	P02708	ACHA_HUMAN	cholinergic receptor, nicotinic, alpha 1 (muscle)	327					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|muscle cell cellular homeostasis (GO:0046716)|musculoskeletal movement (GO:0050881)|neuromuscular junction development (GO:0007528)|neuromuscular process (GO:0050905)|neuromuscular synaptic transmission (GO:0007274)|neuron cellular homeostasis (GO:0070050)|neuronal action potential (GO:0019228)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|skeletal muscle contraction (GO:0003009)|skeletal muscle tissue growth (GO:0048630)|synaptic transmission (GO:0007268)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|cell surface (GO:0009986)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|ion channel activity (GO:0005216)			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(3)|prostate(3)|skin(4)	37					Galantamine(DB00674)	GACGAACACCATGGTGAACAG	0.527																																							uc002ujd.2		NA																	0				ovary(2)|central_nervous_system(1)|skin(1)	4						c.(979-981)ATG>ACG		nicotinic cholinergic receptor alpha 1 isoform a							231.0	176.0	195.0					2																	175614771		2203	4300	6503	SO:0001583	missense	1134				muscle cell homeostasis|neuromuscular junction development|neuromuscular process|neuromuscular synaptic transmission|neuron homeostasis|regulation of action potential in neuron|skeletal muscle contraction|skeletal muscle tissue growth	cell junction|cell surface|neuromuscular junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	g.chr2:175614771A>G	Y00762	CCDS2261.1, CCDS33331.1	2q31.1	2012-02-11	2006-02-01		ENSG00000138435	ENSG00000138435		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1955	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, alpha 1 (muscle)"""	100690	"""cholinergic receptor, nicotinic, alpha polypeptide 1 (muscle)"""	CHRNA			Standard	NM_001039523		Approved		uc002uje.2	P02708	OTTHUMG00000132357	ENST00000261007.5:c.980T>C	2.37:g.175614771A>G	ENSP00000261007:p.Met327Thr					uc002uiw.2_Intron|CHRNA1_uc002uje.2_Missense_Mutation_p.M302T	p.M327T	NM_001039523	NP_001034612	P02708	ACHA_HUMAN			8	1058	-			327			Helical.		B4DRV6|D3DPE8	Missense_Mutation	SNP	ENST00000261007.5	37	c.980T>C	CCDS33331.1	.	.	.	.	.	.	.	.	.	.	A	17.10	3.303703	0.60305	.	.	ENSG00000138435	ENST00000348749;ENST00000261007;ENST00000409542;ENST00000409219	D;D;D;D	0.88354	-2.37;-2.37;-2.37;-2.37	5.5	5.5	0.81552	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.85682	D	0.000000	D	0.94673	0.8282	M	0.82193	2.58	0.80722	D	1	D;B	0.76494	0.999;0.256	D;B	0.85130	0.997;0.241	D	0.95379	0.8471	10	0.87932	D	0	.	15.6187	0.76787	1.0:0.0:0.0:0.0	.	302;327	Q53SH4;P02708	.;ACHA_HUMAN	T	302;327;220;302	ENSP00000261008:M302T;ENSP00000261007:M327T;ENSP00000387026:M220T;ENSP00000386611:M302T	ENSP00000261007:M327T	M	-	2	0	CHRNA1	175323017	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	9.336000	0.96533	2.091000	0.63221	0.533000	0.62120	ATG		0.527	CHRNA1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000334116.1			19	125	0	0	0	0.010504	0	19	125				
MTX2	10651	broad.mit.edu	37	2	177134358	177134358	+	Start_Codon_SNP	SNP	A	A	G			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr2:177134358A>G	ENST00000249442.6	+	1	212	c.1A>G	c.(1-3)Atg>Gtg	p.M1V	MTX2_ENST00000392529.2_5'UTR|MTX2_ENST00000443241.1_Start_Codon_SNP_p.M1V	NM_006554.4	NP_006545.1	O75431	MTX2_HUMAN	metaxin 2	1					cellular protein metabolic process (GO:0044267)|mitochondrial transport (GO:0006839)|protein targeting to mitochondrion (GO:0006626)	mitochondrial outer membrane (GO:0005741)				breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(117;0.00365)|Epithelial(96;0.0654)|all cancers(119;0.181)			CCCAGCCGACATGTCTCTAGT	0.716																																							uc002ukx.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(1-3)ATG>GTG		metaxin 2							8.0	9.0	8.0					2																	177134358		2116	4175	6291	SO:0001582	initiator_codon_variant	10651				protein targeting to mitochondrion	mitochondrial outer membrane		g.chr2:177134358A>G	AF053551	CCDS2272.1	2q31.1	2012-02-07			ENSG00000128654	ENSG00000128654			7506	protein-coding gene	gene with protein product		608555				10381257, 17624330	Standard	NM_006554		Approved		uc002ukx.3	O75431	OTTHUMG00000132514	ENST00000249442.6:c.1A>G	2.37:g.177134358A>G	ENSP00000249442:p.Met1Val					MTX2_uc002ukw.2_5'UTR	p.M1V	NM_006554	NP_006545	O75431	MTX2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00365)|Epithelial(96;0.0654)|all cancers(119;0.181)		1	236	+			1					A8JZZ4|Q53S50|Q53SQ2|Q5M7Z6|Q8IZ68	Missense_Mutation	SNP	ENST00000249442.6	37	c.1A>G	CCDS2272.1	.	.	.	.	.	.	.	.	.	.	A	12.47	1.947616	0.34377	.	.	ENSG00000128654	ENST00000249442;ENST00000443241;ENST00000452865	T;T	0.41400	1.0;1.05	5.12	2.7	0.31948	.	0.000000	0.85682	D	0.000000	T	0.41673	0.1169	.	.	.	0.80722	D	1	D	0.53151	0.958	P	0.46718	0.525	T	0.27606	-1.0069	9	0.66056	D	0.02	.	7.8444	0.29417	0.8293:0.0:0.1707:0.0	.	1	O75431	MTX2_HUMAN	V	1	ENSP00000249442:M1V;ENSP00000414176:M1V	ENSP00000249442:M1V	M	+	1	0	MTX2	176842604	1.000000	0.71417	0.996000	0.52242	0.952000	0.60782	4.518000	0.60510	0.364000	0.24374	0.379000	0.24179	ATG		0.716	MTX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255695.4	NM_006554	Missense_Mutation	5	2	0	0	0	0.006214	0	5	2				
PRKRA	8575	broad.mit.edu	37	2	179315099	179315099	+	Silent	SNP	C	C	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr2:179315099C>T	ENST00000325748.4	-	2	305	c.105G>A	c.(103-105)ccG>ccA	p.P35P	PRKRA_ENST00000487082.1_Silent_p.P10P|DFNB59_ENST00000375129.4_5'Flank|PRKRA_ENST00000432031.2_Silent_p.P24P|PRKRA_ENST00000470200.1_5'UTR|PRKRA_ENST00000438687.3_5'UTR|DFNB59_ENST00000409117.3_5'Flank	NM_003690.4	NP_003681.1	O75569	PRKRA_HUMAN	protein kinase, interferon-inducible double stranded RNA dependent activator	35	DRBM 1. {ECO:0000255|PROSITE- ProRule:PRU00266}.|Sufficient for self-association and interaction with TARBP2.				cellular response to oxidative stress (GO:0034599)|gene expression (GO:0010467)|immune response (GO:0006955)|middle ear morphogenesis (GO:0042474)|negative regulation of cell proliferation (GO:0008285)|outer ear morphogenesis (GO:0042473)|positive regulation of catalytic activity (GO:0043085)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|production of siRNA involved in RNA interference (GO:0030422)|protein phosphorylation (GO:0006468)|response to virus (GO:0009615)|skeletal system morphogenesis (GO:0048705)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	enzyme activator activity (GO:0008047)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(2)	19			OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.00634)|all cancers(119;0.0265)			ATACCTGAATCGGTGTTTTCC	0.428																																					Melanoma(200;68 3001 23825 48764)	Melanoma(200;68 3001 23825 48764)	uc002umf.2		NA																	0				central_nervous_system(1)|skin(1)	2						c.(103-105)CCG>CCA		protein kinase, interferon-inducible double							251.0	275.0	267.0					2																	179315099		2203	4300	6503	SO:0001819	synonymous_variant	8575				immune response|negative regulation of cell proliferation|production of siRNA involved in RNA interference|response to virus	perinuclear region of cytoplasm	double-stranded RNA binding|enzyme activator activity|protein homodimerization activity	g.chr2:179315099C>T	AF072860	CCDS2279.1, CCDS46460.1, CCDS46461.1	2q31.2	2009-08-25			ENSG00000180228	ENSG00000180228			9438	protein-coding gene	gene with protein product	"""protein activator of the interferon-induced protein kinase"""	603424				9687506, 10336432	Standard	NM_003690		Approved	PACT, RAX, HSD14, DYT16	uc002umf.3	O75569	OTTHUMG00000132576	ENST00000325748.4:c.105G>A	2.37:g.179315099C>T						PRKRA_uc002umd.2_Silent_p.P10P|PRKRA_uc002ume.2_Silent_p.P24P|PRKRA_uc002umg.2_5'UTR|DFNB59_uc002umi.3_5'Flank	p.P35P	NM_003690	NP_003681	O75569	PRKRA_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.00634)|all cancers(119;0.0265)		2	306	-			35			Sufficient for self-association and interaction with TARBP2.|DRBM 1.		A8K3I6|Q53G24|Q6X7T5|Q8NDK4	Silent	SNP	ENST00000325748.4	37	c.105G>A	CCDS2279.1																																																																																				0.428	PRKRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255782.2	NM_003690		31	345	0	0	0	0.004878	0	31	345				
TTN	7273	broad.mit.edu	37	2	179414326	179414326	+	Missense_Mutation	SNP	G	G	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr2:179414326G>A	ENST00000591111.1	-	288	87424	c.87200C>T	c.(87199-87201)tCt>tTt	p.S29067F	TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000456053.1_RNA|RP11-65L3.2_ENST00000603415.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.S21768F|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.S30708F|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.S21835F|TTN_ENST00000342992.6_Missense_Mutation_p.S28140F|TTN_ENST00000460472.2_Missense_Mutation_p.S21643F|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA			Q8WZ42	TITIN_HUMAN	titin	29067	Fibronectin type-III 111. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CACTGGATCAGAATCAAGTGG	0.378																																							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.(84418-84420)TCT>TTT		titin isoform N2-A							115.0	114.0	115.0					2																	179414326		1859	4096	5955	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179414326G>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.87200C>T	2.37:g.179414326G>A	ENSP00000465570:p.Ser29067Phe					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.S21835F|TTN_uc010zfi.1_Missense_Mutation_p.S21768F|TTN_uc010zfj.1_Missense_Mutation_p.S21643F	p.S28140F	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		287	84643	-			29067					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.84419C>T		.	.	.	.	.	.	.	.	.	.	G	20.1	3.939890	0.73557	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.63580	-0.05;-0.05;-0.05;-0.05	5.74	5.74	0.90152	Fibronectin, type III (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.86851	0.6032	H	0.95884	3.735	0.80722	D	1	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.83275	0.996;0.996;0.996;0.996	D	0.90011	0.4121	9	0.87932	D	0	.	20.2982	0.98569	0.0:0.0:1.0:0.0	.	21643;21768;21835;29067	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	F	28140;21643;21835;21768;21640	ENSP00000343764:S28140F;ENSP00000434586:S21643F;ENSP00000340554:S21835F;ENSP00000352154:S21768F	ENSP00000340554:S21835F	S	-	2	0	TTN	179122572	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	9.813000	0.99286	2.873000	0.98535	0.563000	0.77884	TCT		0.378	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		20	154	0	0	0	0.00278	0	20	154				
TTN	7273	broad.mit.edu	37	2	179434805	179434805	+	Missense_Mutation	SNP	T	T	C			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr2:179434805T>C	ENST00000591111.1	-	276	71355	c.71131A>G	c.(71131-71133)Aca>Gca	p.T23711A	TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.T16412A|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.T25352A|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.T16479A|TTN_ENST00000342992.6_Missense_Mutation_p.T22784A|TTN_ENST00000460472.2_Missense_Mutation_p.T16287A|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA			Q8WZ42	TITIN_HUMAN	titin	23711	Fibronectin type-III 72. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGGCATCTTGTCCATCTAATG	0.428																																							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.(68350-68352)ACA>GCA		titin isoform N2-A							129.0	120.0	123.0					2																	179434805		1951	4146	6097	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179434805T>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.71131A>G	2.37:g.179434805T>C	ENSP00000465570:p.Thr23711Ala					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.T16479A|TTN_uc010zfi.1_Missense_Mutation_p.T16412A|TTN_uc010zfj.1_Missense_Mutation_p.T16287A	p.T22784A	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		275	68574	-			23711					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.68350A>G		.	.	.	.	.	.	.	.	.	.	T	11.53	1.665009	0.29604	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.56611	0.45;0.45;0.45;0.45	5.87	3.41	0.39046	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.53738	0.1815	M	0.64170	1.965	0.49299	D	0.999773	P;P;P;P	0.38420	0.63;0.489;0.63;0.489	B;B;B;B	0.42495	0.389;0.389;0.389;0.273	T	0.54649	-0.8262	9	0.87932	D	0	.	11.1163	0.48262	0.247:0.0:0.0:0.7529	.	16287;16412;16479;23711	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	A	22784;16287;16479;16412;16285	ENSP00000343764:T22784A;ENSP00000434586:T16287A;ENSP00000340554:T16479A;ENSP00000352154:T16412A	ENSP00000340554:T16479A	T	-	1	0	TTN	179143051	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.119000	0.64679	0.430000	0.26230	-0.341000	0.08007	ACA		0.428	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		11	54	0	0	0	0.001368	0	11	54				
TTN	7273	broad.mit.edu	37	2	179437740	179437740	+	Silent	SNP	G	G	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr2:179437740G>T	ENST00000591111.1	-	276	68420	c.68196C>A	c.(68194-68196)gtC>gtA	p.V22732V	TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Silent_p.V15433V|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000589042.1_Silent_p.V24373V|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342175.6_Silent_p.V15500V|TTN_ENST00000342992.6_Silent_p.V21805V|TTN_ENST00000460472.2_Silent_p.V15308V|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA			Q8WZ42	TITIN_HUMAN	titin	22732	Fibronectin type-III 65. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTGGTGGAGTGACAATCTGCC	0.448																																							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.(65413-65415)GTC>GTA		titin isoform N2-A							74.0	75.0	75.0					2																	179437740		2030	4184	6214	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179437740G>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.68196C>A	2.37:g.179437740G>T						uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.V15500V|TTN_uc010zfi.1_Silent_p.V15433V|TTN_uc010zfj.1_Silent_p.V15308V	p.V21805V	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		275	65639	-			22732					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.65415C>A																																																																																					0.448	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		8	29	1	0	2.27111e-07	0.001368	2.61891e-07	8	29				
TTN	7273	broad.mit.edu	37	2	179600657	179600657	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr2:179600657G>T	ENST00000591111.1	-	48	13789	c.13565C>A	c.(13564-13566)cCt>cAt	p.P4522H	TTN_ENST00000359218.5_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.P4839H|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P3595H|TTN_ENST00000460472.2_Intron			Q8WZ42	TITIN_HUMAN	titin	12278	Ig-like 25.				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)			CCTCCAGTTAGGTGAAGGTGA	0.438																																							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.(10783-10785)CCT>CAT		titin isoform N2-A							126.0	123.0	124.0					2																	179600657		1942	4152	6094	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179600657G>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.13565C>A	2.37:g.179600657G>T	ENSP00000465570:p.Pro4522His					TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.P256H	p.P3595H	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		47	11008	-			4522					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.10784C>A		.	.	.	.	.	.	.	.	.	.	G	5.465	0.270856	0.10349	.	.	ENSG00000155657	ENST00000342992	T	0.43688	0.94	5.93	5.05	0.67936	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.27832	0.0685	N	0.13168	0.305	0.80722	D	1	P	0.39883	0.693	B	0.41619	0.361	T	0.06463	-1.0825	9	0.87932	D	0	.	7.395	0.26931	0.0807:0.0:0.6365:0.2828	.	4522	Q8WZ42	TITIN_HUMAN	H	3595	ENSP00000343764:P3595H	ENSP00000343764:P3595H	P	-	2	0	TTN	179308902	0.926000	0.31397	0.894000	0.35097	0.223000	0.24884	2.044000	0.41241	2.805000	0.96524	0.655000	0.94253	CCT		0.438	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		23	70	1	0	1.61788e-16	0.002445	2.22403e-16	23	70				
TTN	7273	broad.mit.edu	37	2	179638309	179638309	+	Missense_Mutation	SNP	G	G	C			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr2:179638309G>C	ENST00000591111.1	-	32	7698	c.7474C>G	c.(7474-7476)Cag>Gag	p.Q2492E	TTN_ENST00000360870.5_Missense_Mutation_p.Q2492E|TTN_ENST00000359218.5_Missense_Mutation_p.Q2446E|TTN_ENST00000589042.1_Missense_Mutation_p.Q2492E|TTN-AS1_ENST00000610005.1_RNA|TTN-AS1_ENST00000584485.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.Q2446E|TTN_ENST00000342992.6_Missense_Mutation_p.Q2492E|TTN_ENST00000460472.2_Missense_Mutation_p.Q2446E			Q8WZ42	TITIN_HUMAN	titin	12813	Ig-like 14.				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)			ACAATGGCCTGTACACGGTCA	0.443																																							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.(7474-7476)CAG>GAG		titin isoform N2-A							151.0	137.0	141.0					2																	179638309		2203	4300	6503	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179638309G>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.7474C>G	2.37:g.179638309G>C	ENSP00000465570:p.Gln2492Glu					TTN_uc010zfh.1_Missense_Mutation_p.Q2446E|TTN_uc010zfi.1_Missense_Mutation_p.Q2446E|TTN_uc010zfj.1_Missense_Mutation_p.Q2446E|TTN_uc002unb.2_Missense_Mutation_p.Q2492E	p.Q2492E	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		32	7698	-			2492					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.7474C>G		.	.	.	.	.	.	.	.	.	.	G	8.485	0.860709	0.17178	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.66638	-0.22;-0.22;-0.22;-0.22;-0.22	5.82	5.82	0.92795	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.64238	0.2580	L	0.38175	1.15	0.31928	N	0.612497	B;B;B;B;B	0.26195	0.027;0.027;0.027;0.027;0.144	B;B;B;B;B	0.29942	0.06;0.06;0.109;0.109;0.107	T	0.67776	-0.5583	9	0.87932	D	0	.	20.1142	0.97922	0.0:0.0:1.0:0.0	.	2446;2446;2446;2492;2492	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	E	2492;2446;2446;2446;2446;2492	ENSP00000343764:Q2492E;ENSP00000434586:Q2446E;ENSP00000340554:Q2446E;ENSP00000352154:Q2446E;ENSP00000354117:Q2492E	ENSP00000340554:Q2446E	Q	-	1	0	TTN	179346554	1.000000	0.71417	0.104000	0.21259	0.254000	0.26022	9.869000	0.99810	2.765000	0.95021	0.650000	0.86243	CAG		0.443	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		13	98	0	0	0	0.003163	0	13	98				
CWC22	57703	broad.mit.edu	37	2	180818938	180818938	+	Silent	SNP	T	T	C			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr2:180818938T>C	ENST00000410053.3	-	16	1982	c.1683A>G	c.(1681-1683)ccA>ccG	p.P561P	CWC22_ENST00000295749.6_Silent_p.P561P	NM_020943.2	NP_065994.1	Q9HCG8	CWC22_HUMAN	CWC22 spliceosome-associated protein	561	MI. {ECO:0000255|PROSITE- ProRule:PRU00698}.				mRNA splicing, via spliceosome (GO:0000398)|regulation of mRNA splicing, via spliceosome (GO:0048024)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	RNA binding (GO:0003723)			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(8)|stomach(1)	30						TTACACTCCATGGAAGTGAAT	0.343																																							uc010frh.1		NA																	0					0						c.(1681-1683)CCA>CCG		CWC22 spliceosome-associated protein homolog							127.0	117.0	120.0					2																	180818938		1884	4114	5998	SO:0001819	synonymous_variant	57703					catalytic step 2 spliceosome	protein binding|RNA binding	g.chr2:180818938T>C		CCDS46465.1	2q31.3	2014-07-03	2014-07-03		ENSG00000163510	ENSG00000163510			29322	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein b"""	615186	"""CWC22 spliceosome-associated protein homolog (S. cerevisiae)"""			9136012, 23236153	Standard	NM_020943		Approved	KIAA1604, EIF4GL, fSAPb, NCM	uc010frh.1	Q9HCG8	OTTHUMG00000154244	ENST00000410053.3:c.1683A>G	2.37:g.180818938T>C						CWC22_uc002uno.2_Silent_p.P83P|CWC22_uc002unp.2_Silent_p.P561P	p.P561P	NM_020943	NP_065994	Q9HCG8	CWC22_HUMAN			16	1983	-			561			MI.		Q05DC2|Q4G135|Q52LF0|Q6PEX2|Q7Z6I0|Q9H5L3|Q9H6Q6	Silent	SNP	ENST00000410053.3	37	c.1683A>G	CCDS46465.1																																																																																				0.343	CWC22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334537.1	NM_020943		14	41	0	0	0	0.00499	0	14	41				
NEUROD1	4760	broad.mit.edu	37	2	182542546	182542546	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr2:182542546C>A	ENST00000295108.3	-	2	1499	c.1042G>T	c.(1042-1044)Gcc>Tcc	p.A348S	NEUROD1_ENST00000496876.1_Intron|CERKL_ENST00000479558.1_Intron	NM_002500.4	NP_002491.2	Q13562	NDF1_HUMAN	neuronal differentiation 1	348					amacrine cell differentiation (GO:0035881)|anterior/posterior pattern specification (GO:0009952)|cellular response to glucose stimulus (GO:0071333)|cerebellum development (GO:0021549)|dentate gyrus development (GO:0021542)|embryonic organ morphogenesis (GO:0048562)|endocrine pancreas development (GO:0031018)|enteroendocrine cell differentiation (GO:0035883)|glucose homeostasis (GO:0042593)|inner ear development (GO:0048839)|insulin secretion (GO:0030073)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of type B pancreatic cell apoptotic process (GO:2000675)|neurogenesis (GO:0022008)|nitric oxide mediated signal transduction (GO:0007263)|nucleocytoplasmic transport (GO:0006913)|pancreatic A cell fate commitment (GO:0003326)|pancreatic PP cell fate commitment (GO:0003329)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell differentiation (GO:0045597)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell cycle arrest (GO:0071156)|regulation of insulin secretion (GO:0050796)|regulation of intestinal epithelial structure maintenance (GO:0060730)|response to drug (GO:0042493)|response to glucose (GO:0009749)|signal transduction involved in regulation of gene expression (GO:0023019)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|E-box binding (GO:0070888)|protein heterodimerization activity (GO:0046982)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription coactivator activity (GO:0001105)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25			OV - Ovarian serous cystadenocarcinoma(117;0.088)			TTGAGCTGGGCACTCATGACT	0.493																																							uc002uof.2		NA																	0				ovary(1)	1						c.(1042-1044)GCC>TCC		neurogenic differentiation 1							141.0	136.0	138.0					2																	182542546		2203	4300	6503	SO:0001583	missense	4760				amacrine cell differentiation|cerebellum development|dentate gyrus development|embryonic organ morphogenesis|enteroendocrine cell differentiation|glucose homeostasis|inner ear development|insulin secretion|negative regulation of apoptosis|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of intestinal epithelial structure maintenance|response to glucose stimulus	cytoplasm|nucleus	chromatin binding|E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding	g.chr2:182542546C>A	U50823	CCDS2283.1	2q32	2013-05-21	2012-02-22		ENSG00000162992	ENSG00000162992		"""Basic helix-loop-helix proteins"""	7762	protein-coding gene	gene with protein product	"""beta-cell E-box transactivator 2"", ""neurogenic helix-loop-helix protein NEUROD"""	601724	"""neurogenic differentiation 1"""	NEUROD		7754368, 8786144	Standard	NM_002500		Approved	BETA2, BHF-1, NeuroD, bHLHa3, MODY6	uc002uof.4	Q13562	OTTHUMG00000132583	ENST00000295108.3:c.1042G>T	2.37:g.182542546C>A	ENSP00000295108:p.Ala348Ser					CERKL_uc002uod.1_Intron	p.A348S	NM_002500	NP_002491	Q13562	NDF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.088)		2	1278	-			348					B2R9I8|F1T0E1|O00343|Q13340|Q5U095|Q96TH0|Q99455|Q9UEC8	Missense_Mutation	SNP	ENST00000295108.3	37	c.1042G>T	CCDS2283.1	.	.	.	.	.	.	.	.	.	.	C	11.22	1.575617	0.28092	.	.	ENSG00000162992	ENST00000295108	D	0.95238	-3.65	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	D	0.93380	0.7889	L	0.59436	1.845	0.80722	D	1	B	0.29988	0.264	B	0.30716	0.119	D	0.90886	0.4757	10	0.34782	T	0.22	0.2309	19.8737	0.96861	0.0:1.0:0.0:0.0	.	348	Q13562	NDF1_HUMAN	S	348	ENSP00000295108:A348S	ENSP00000295108:A348S	A	-	1	0	NEUROD1	182250791	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.750000	0.68712	2.693000	0.91896	0.650000	0.86243	GCC		0.493	NEUROD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255792.2	NM_002500		59	120	1	0	1.7104e-27	0.00361	2.59908e-27	59	120				
ZNF804A	91752	broad.mit.edu	37	2	185802271	185802271	+	Missense_Mutation	SNP	A	A	C			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr2:185802271A>C	ENST00000302277.6	+	4	2742	c.2148A>C	c.(2146-2148)ttA>ttC	p.L716F		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	716							metal ion binding (GO:0046872)			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						AACATAATTTAACATATTCTA	0.313																																							uc002uph.2		NA																	0				ovary(6)|skin(3)|large_intestine(1)|pancreas(1)	11						c.(2146-2148)TTA>TTC		zinc finger protein 804A							59.0	55.0	56.0					2																	185802271		2201	4296	6497	SO:0001583	missense	91752					intracellular	zinc ion binding	g.chr2:185802271A>C	AF052145	CCDS2291.1	2q32.1	2012-10-05	2006-10-27	2006-10-27	ENSG00000170396	ENSG00000170396			21711	protein-coding gene	gene with protein product		612282		C2orf10		12970790	Standard	NM_194250		Approved		uc002uph.3	Q7Z570	OTTHUMG00000132625	ENST00000302277.6:c.2148A>C	2.37:g.185802271A>C	ENSP00000303252:p.Leu716Phe						p.L716F	NM_194250	NP_919226	Q7Z570	Z804A_HUMAN			4	2742	+			716					A7E253|Q6ZN26	Missense_Mutation	SNP	ENST00000302277.6	37	c.2148A>C	CCDS2291.1	.	.	.	.	.	.	.	.	.	.	A	14.07	2.425747	0.43020	.	.	ENSG00000170396	ENST00000302277	T	0.09073	3.02	5.96	4.81	0.61882	.	0.153305	0.30742	N	0.008980	T	0.16896	0.0406	L	0.55481	1.735	0.09310	N	1	D	0.69078	0.997	D	0.63597	0.916	T	0.18777	-1.0326	10	0.59425	D	0.04	-6.1817	3.255	0.06828	0.6429:0.1517:0.0757:0.1297	.	716	Q7Z570	Z804A_HUMAN	F	716	ENSP00000303252:L716F	ENSP00000303252:L716F	L	+	3	2	ZNF804A	185510516	0.002000	0.14202	0.384000	0.26145	0.915000	0.54546	0.107000	0.15375	1.083000	0.41159	0.533000	0.62120	TTA		0.313	ZNF804A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255871.1	NM_194250		4	32	0	0	0	0.009096	0	4	32				
COL3A1	1281	broad.mit.edu	37	2	189876385	189876385	+	Missense_Mutation	SNP	T	T	C	rs587779719		TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr2:189876385T>C	ENST00000304636.3	+	51	4456	c.4286T>C	c.(4285-4287)tTt>tCt	p.F1429S	COL3A1_ENST00000317840.5_Missense_Mutation_p.F1126S	NM_000090.3	NP_000081	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	1429	Fibrillar collagen NC1. {ECO:0000255|PROSITE-ProRule:PRU00793}.				aging (GO:0007568)|axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell-matrix adhesion (GO:0007160)|cellular response to amino acid stimulus (GO:0071230)|cerebral cortex development (GO:0021987)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|digestive tract development (GO:0048565)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of immune response (GO:0050777)|negative regulation of neuron migration (GO:2001223)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|positive regulation of Rho protein signal transduction (GO:0035025)|response to cytokine (GO:0034097)|response to mechanical stimulus (GO:0009612)|response to radiation (GO:0009314)|skeletal system development (GO:0001501)|skin development (GO:0043588)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	collagen type III trimer (GO:0005586)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent (GO:0005201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)	AAAACAGTCTTTGAATATCGA	0.403																																							uc002uqj.1		NA																	0				central_nervous_system(7)|ovary(4)|large_intestine(2)	13						c.(4285-4287)TTT>TCT		collagen type III alpha 1 preproprotein	Collagenase(DB00048)|Palifermin(DB00039)						193.0	175.0	181.0					2																	189876385		2203	4300	6503	SO:0001583	missense	1281				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding	g.chr2:189876385T>C	X15332	CCDS2297.1	2q32.2	2014-09-17	2008-06-23		ENSG00000168542	ENSG00000168542		"""Collagens"""	2201	protein-coding gene	gene with protein product		120180	"""Ehlers-Danlos syndrome type IV, autosomal dominant"""	EDS4A		2780304, 2834369	Standard	NM_000090		Approved		uc002uqj.1	P02461	OTTHUMG00000132648	ENST00000304636.3:c.4286T>C	2.37:g.189876385T>C	ENSP00000304408:p.Phe1429Ser						p.F1429S	NM_000090	NP_000081	P02461	CO3A1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		51	4403	+			1429			Fibrillar collagen NC1.		D2JYH5|D3DPH4|P78429|Q15112|Q16403|Q53S91|Q541P8|Q6LDB3|Q6LDJ2|Q6LDJ3|Q7KZ56|Q8N6U4|Q9UC88|Q9UC89|Q9UC90|Q9UC91|R4N3C5|V9GZI1	Missense_Mutation	SNP	ENST00000304636.3	37	c.4286T>C	CCDS2297.1	.	.	.	.	.	.	.	.	.	.	T	25.3	4.620989	0.87460	.	.	ENSG00000168542	ENST00000304636;ENST00000317840	T;T	0.74106	-0.81;-0.81	5.69	5.69	0.88448	Fibrillar collagen, C-terminal (4);	0.000000	0.52532	D	0.000063	D	0.85504	0.5712	M	0.84326	2.69	0.32966	D	0.521748	D	0.64830	0.994	P	0.61658	0.892	D	0.89643	0.3864	10	0.44086	T	0.13	.	15.9456	0.79789	0.0:0.0:0.0:1.0	.	1429	P02461	CO3A1_HUMAN	S	1429;1126	ENSP00000304408:F1429S;ENSP00000315243:F1126S	ENSP00000304408:F1429S	F	+	2	0	COL3A1	189584630	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.040000	0.89188	2.167000	0.68274	0.477000	0.44152	TTT		0.403	COL3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255899.3	NM_000090		20	83	0	0	0	0.005443	0	20	83				
COL5A2	1290	broad.mit.edu	37	2	189909940	189909940	+	Missense_Mutation	SNP	C	C	G			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr2:189909940C>G	ENST00000374866.3	-	47	3602	c.3328G>C	c.(3328-3330)Gga>Cga	p.G1110R		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	1110					axon guidance (GO:0007411)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|negative regulation of endodermal cell differentiation (GO:1903225)|skeletal system development (GO:0001501)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			CCAGGTGGTCCTATAGGACCC	0.323																																							uc002uqk.2		NA																	0				ovary(2)	2						c.(3328-3330)GGA>CGA		alpha 2 type V collagen preproprotein							29.0	32.0	31.0					2																	189909940		2202	4300	6502	SO:0001583	missense	1290				axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent	g.chr2:189909940C>G	Y14690	CCDS33350.1	2q14-q32	2014-09-17			ENSG00000204262	ENSG00000204262		"""Collagens"""	2210	protein-coding gene	gene with protein product	"""AB collagen"""	120190				1572660	Standard	NM_000393		Approved		uc002uqk.3	P05997	OTTHUMG00000149842	ENST00000374866.3:c.3328G>C	2.37:g.189909940C>G	ENSP00000364000:p.Gly1110Arg					COL5A2_uc010frx.2_Missense_Mutation_p.G686R	p.G1110R	NM_000393	NP_000384	P05997	CO5A2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)		47	3603	-			1110					P78440|Q13908|Q53WR4|Q59GR4|Q6LDJ5|Q7KZ55|Q86XF6|Q96QB0|Q96QB3	Missense_Mutation	SNP	ENST00000374866.3	37	c.3328G>C	CCDS33350.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.038585	0.75617	.	.	ENSG00000204262	ENST00000374866;ENST00000452536	D	0.99353	-5.77	5.96	5.96	0.96718	.	0.000000	0.52532	D	0.000063	D	0.99722	0.9892	H	0.98883	4.36	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.97346	0.9960	10	0.87932	D	0	.	17.5779	0.87956	0.0:1.0:0.0:0.0	.	750;1110	Q5PR22;P05997	.;CO5A2_HUMAN	R	1110;750	ENSP00000364000:G1110R	ENSP00000364000:G1110R	G	-	1	0	COL5A2	189618185	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.536000	0.82023	2.832000	0.97577	0.655000	0.94253	GGA		0.323	COL5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313523.1	NM_000393		13	18	0	0	0	0.007413	0	13	18				
DNAH7	56171	broad.mit.edu	37	2	196865601	196865601	+	Missense_Mutation	SNP	C	C	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr2:196865601C>T	ENST00000312428.6	-	12	1280	c.1180G>A	c.(1180-1182)Gtt>Att	p.V394I	DNAH7_ENST00000410072.1_Missense_Mutation_p.V394I	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	394	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						AAAGCTCTAACAGAATCCTGC	0.333																																							uc002utj.3		NA																	0				skin(10)|ovary(2)	12						c.(1180-1182)GTT>ATT		dynein, axonemal, heavy chain 7							66.0	64.0	64.0					2																	196865601		1802	4069	5871	SO:0001583	missense	56171				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr2:196865601C>T	AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"""Axonemal dyneins"", ""EF-hand domain containing"""	18661	protein-coding gene	gene with protein product		610061	"""dynein, axonemal, heavy polypeptide 7"""			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.1180G>A	2.37:g.196865601C>T	ENSP00000311273:p.Val394Ile						p.V394I	NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN			12	1281	-			394			Stem (By similarity).		B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Missense_Mutation	SNP	ENST00000312428.6	37	c.1180G>A	CCDS42794.1	.	.	.	.	.	.	.	.	.	.	C	13.45	2.240959	0.39598	.	.	ENSG00000118997	ENST00000312428;ENST00000410072;ENST00000312446	T;T	0.22336	1.96;2.87	5.61	1.81	0.25067	.	1.401140	0.04897	N	0.450555	T	0.15132	0.0365	N	0.16307	0.4	0.28959	N	0.889955	B	0.02656	0.0	B	0.04013	0.001	T	0.32798	-0.9893	10	0.36615	T	0.2	.	9.4255	0.38576	0.0:0.6412:0.0:0.3588	.	394	Q8WXX0	DYH7_HUMAN	I	394	ENSP00000311273:V394I;ENSP00000386260:V394I	ENSP00000311273:V394I	V	-	1	0	DNAH7	196573846	0.158000	0.22850	0.980000	0.43619	0.991000	0.79684	-0.084000	0.11268	0.054000	0.16065	0.637000	0.83480	GTT		0.333	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	NM_018897		18	42	0	0	0	0.007413	0	18	42				
HECW2	57520	broad.mit.edu	37	2	197143300	197143300	+	Silent	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr2:197143300C>A	ENST00000260983.3	-	15	3269	c.3087G>T	c.(3085-3087)ctG>ctT	p.L1029L	HECW2_ENST00000409111.1_Silent_p.L673L	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	1029	Interaction with TP73.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						GCCGATGAACCAGCGCACTTG	0.532																																							uc002utm.1		NA																	0				skin(5)|ovary(5)|lung(4)|pancreas(2)|central_nervous_system(1)|kidney(1)	18						c.(3085-3087)CTG>CTT		HECT, C2 and WW domain containing E3 ubiquitin							151.0	124.0	133.0					2																	197143300		2203	4300	6503	SO:0001819	synonymous_variant	57520				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity	g.chr2:197143300C>A	AL390186	CCDS33354.1	2q32.3	2004-12-13			ENSG00000138411	ENSG00000138411			29853	protein-coding gene	gene with protein product						10718198, 12890487	Standard	NM_020760		Approved	KIAA1301, NEDL2	uc002utm.1	Q9P2P5	OTTHUMG00000154435	ENST00000260983.3:c.3087G>T	2.37:g.197143300C>A						HECW2_uc002utl.1_Silent_p.L673L	p.L1029L	NM_020760	NP_065811	Q9P2P5	HECW2_HUMAN			15	3270	-			1029			Interaction with TP73.		B8ZZB4|Q17RT5|Q68DF8|Q9NPS9	Silent	SNP	ENST00000260983.3	37	c.3087G>T	CCDS33354.1																																																																																				0.532	HECW2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335199.3	NM_020760		28	74	1	0	7.38237e-10	0.00632	9.08391e-10	28	74				
BMPR2	659	broad.mit.edu	37	2	203424452	203424452	+	Missense_Mutation	SNP	C	C	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr2:203424452C>T	ENST00000374580.4	+	13	3439	c.2900C>T	c.(2899-2901)tCa>tTa	p.S967L	BMPR2_ENST00000374574.2_3'UTR	NM_001204.6	NP_001195.2	Q13873	BMPR2_HUMAN	bone morphogenetic protein receptor, type II (serine/threonine kinase)	967					activin receptor signaling pathway (GO:0032924)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|blood vessel remodeling (GO:0001974)|BMP signaling pathway (GO:0030509)|brain development (GO:0007420)|cellular response to starvation (GO:0009267)|chondrocyte development (GO:0002063)|limb development (GO:0060173)|lung alveolus development (GO:0048286)|lymphangiogenesis (GO:0001946)|lymphatic endothelial cell differentiation (GO:0060836)|mesoderm formation (GO:0001707)|negative regulation of cell growth (GO:0030308)|negative regulation of chondrocyte proliferation (GO:1902731)|negative regulation of DNA biosynthetic process (GO:2000279)|negative regulation of systemic arterial blood pressure (GO:0003085)|negative regulation of vasoconstriction (GO:0045906)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of bone mineralization (GO:0030501)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|regulation of cell proliferation (GO:0042127)|regulation of lung blood pressure (GO:0014916)|retina vasculature development in camera-type eye (GO:0061298)|transcription from RNA polymerase II promoter (GO:0006366)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|venous blood vessel development (GO:0060841)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|caveola (GO:0005901)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|fully spanning plasma membrane (GO:0044214)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	activin receptor activity, type II (GO:0016362)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta-activated receptor activity (GO:0005024)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(11)|lung(7)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2)	42						AAATCAGGATCAGGTGAAAAG	0.428																																							uc002uzf.3		NA																	0				ovary(4)|breast(2)|large_intestine(1)|stomach(1)|pancreas(1)	9						c.(2899-2901)TCA>TTA		bone morphogenetic protein receptor type II							90.0	87.0	88.0					2																	203424452		2203	4300	6503	SO:0001583	missense	659				anterior/posterior pattern formation|BMP signaling pathway|cellular response to starvation|lung alveolus development|mesoderm formation|negative regulation of cell growth|negative regulation of systemic arterial blood pressure|negative regulation of vasoconstriction|positive regulation of BMP signaling pathway|positive regulation of bone mineralization|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of epithelial cell migration|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|regulation of lung blood pressure|transcription from RNA polymerase II promoter|vascular endothelial growth factor receptor signaling pathway	integral to plasma membrane	ATP binding|metal ion binding|transforming growth factor beta receptor activity	g.chr2:203424452C>T	Z48923	CCDS33361.1	2q33-q34	2014-09-17			ENSG00000204217	ENSG00000204217			1078	protein-coding gene	gene with protein product		600799	"""primary pulmonary hypertension 1"""	PPH1		7791754	Standard	NM_001204		Approved	BRK-3, T-ALK, BMPR3, BMPR-II	uc002uzf.4	Q13873	OTTHUMG00000133617	ENST00000374580.4:c.2900C>T	2.37:g.203424452C>T	ENSP00000363708:p.Ser967Leu					BMPR2_uc010ftr.2_3'UTR	p.S967L	NM_001204	NP_001195	Q13873	BMPR2_HUMAN			13	4048	+			967			Cytoplasmic (Potential).		Q13161|Q16569|Q4ZG08|Q53SA5|Q585T8	Missense_Mutation	SNP	ENST00000374580.4	37	c.2900C>T	CCDS33361.1	.	.	.	.	.	.	.	.	.	.	C	19.44	3.828821	0.71258	.	.	ENSG00000204217	ENST00000374580	D	0.92595	-3.07	5.65	5.65	0.86999	.	0.123290	0.56097	D	0.000026	D	0.87629	0.6225	L	0.29908	0.895	0.80722	D	1	P	0.49090	0.919	B	0.37550	0.253	D	0.89529	0.3784	10	0.87932	D	0	.	19.7342	0.96195	0.0:1.0:0.0:0.0	.	967	Q13873	BMPR2_HUMAN	L	967	ENSP00000363708:S967L	ENSP00000363708:S967L	S	+	2	0	BMPR2	203132697	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.554000	0.82212	2.686000	0.91538	0.650000	0.86243	TCA		0.428	BMPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257743.1	NM_001204		13	25	0	0	0	0.001855	0	13	25				
BMPR2	659	broad.mit.edu	37	2	203424547	203424547	+	Nonsense_Mutation	SNP	G	G	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr2:203424547G>T	ENST00000374580.4	+	13	3534	c.2995G>T	c.(2995-2997)Gaa>Taa	p.E999*	BMPR2_ENST00000374574.2_3'UTR	NM_001204.6	NP_001195.2	Q13873	BMPR2_HUMAN	bone morphogenetic protein receptor, type II (serine/threonine kinase)	999					activin receptor signaling pathway (GO:0032924)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|blood vessel remodeling (GO:0001974)|BMP signaling pathway (GO:0030509)|brain development (GO:0007420)|cellular response to starvation (GO:0009267)|chondrocyte development (GO:0002063)|limb development (GO:0060173)|lung alveolus development (GO:0048286)|lymphangiogenesis (GO:0001946)|lymphatic endothelial cell differentiation (GO:0060836)|mesoderm formation (GO:0001707)|negative regulation of cell growth (GO:0030308)|negative regulation of chondrocyte proliferation (GO:1902731)|negative regulation of DNA biosynthetic process (GO:2000279)|negative regulation of systemic arterial blood pressure (GO:0003085)|negative regulation of vasoconstriction (GO:0045906)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of bone mineralization (GO:0030501)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|regulation of cell proliferation (GO:0042127)|regulation of lung blood pressure (GO:0014916)|retina vasculature development in camera-type eye (GO:0061298)|transcription from RNA polymerase II promoter (GO:0006366)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|venous blood vessel development (GO:0060841)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|caveola (GO:0005901)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|fully spanning plasma membrane (GO:0044214)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	activin receptor activity, type II (GO:0016362)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta-activated receptor activity (GO:0005024)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(11)|lung(7)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2)	42						GCTGGACTGTGAAGTCAACAA	0.483																																							uc002uzf.3		NA																	0				ovary(4)|breast(2)|large_intestine(1)|stomach(1)|pancreas(1)	9						c.(2995-2997)GAA>TAA		bone morphogenetic protein receptor type II							93.0	83.0	87.0					2																	203424547		2203	4300	6503	SO:0001587	stop_gained	659				anterior/posterior pattern formation|BMP signaling pathway|cellular response to starvation|lung alveolus development|mesoderm formation|negative regulation of cell growth|negative regulation of systemic arterial blood pressure|negative regulation of vasoconstriction|positive regulation of BMP signaling pathway|positive regulation of bone mineralization|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of epithelial cell migration|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|regulation of lung blood pressure|transcription from RNA polymerase II promoter|vascular endothelial growth factor receptor signaling pathway	integral to plasma membrane	ATP binding|metal ion binding|transforming growth factor beta receptor activity	g.chr2:203424547G>T	Z48923	CCDS33361.1	2q33-q34	2014-09-17			ENSG00000204217	ENSG00000204217			1078	protein-coding gene	gene with protein product		600799	"""primary pulmonary hypertension 1"""	PPH1		7791754	Standard	NM_001204		Approved	BRK-3, T-ALK, BMPR3, BMPR-II	uc002uzf.4	Q13873	OTTHUMG00000133617	ENST00000374580.4:c.2995G>T	2.37:g.203424547G>T	ENSP00000363708:p.Glu999*					BMPR2_uc010ftr.2_3'UTR	p.E999*	NM_001204	NP_001195	Q13873	BMPR2_HUMAN			13	4143	+			999			Cytoplasmic (Potential).		Q13161|Q16569|Q4ZG08|Q53SA5|Q585T8	Nonsense_Mutation	SNP	ENST00000374580.4	37	c.2995G>T	CCDS33361.1	.	.	.	.	.	.	.	.	.	.	G	44	11.239744	0.99535	.	.	ENSG00000204217	ENST00000374580	.	.	.	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.7342	0.96195	0.0:0.0:1.0:0.0	.	.	.	.	X	999	.	ENSP00000363708:E999X	E	+	1	0	BMPR2	203132792	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.670000	0.98625	2.686000	0.91538	0.650000	0.86243	GAA		0.483	BMPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257743.1	NM_001204		17	51	1	0	4.35082e-09	0.010504	5.23863e-09	17	51				
UNC80	285175	broad.mit.edu	37	2	210642157	210642157	+	Silent	SNP	A	A	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr2:210642157A>T	ENST00000439458.1	+	4	554	c.474A>T	c.(472-474)ccA>ccT	p.P158P	UNC80_ENST00000272845.6_Silent_p.P158P|UNC80_ENST00000478701.1_3'UTR	NM_032504.1	NP_115893.1	Q8N2C7	UNC80_HUMAN	unc-80 homolog (C. elegans)	158					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)	20						AGGGTTCTCCAGGGCAGCCTT	0.527																																							uc010zjc.1		NA																	0					0						c.(472-474)CCA>CCT		chromosome 2 open reading frame 21 isoform 1							87.0	88.0	88.0					2																	210642157		2203	4300	6503	SO:0001819	synonymous_variant	285175					integral to membrane		g.chr2:210642157A>T	AK090815	CCDS2387.1, CCDS46504.1, CCDS2387.2	2q35	2009-08-17	2009-08-17	2009-08-17	ENSG00000144406	ENSG00000144406			26582	protein-coding gene	gene with protein product		612636	"""chromosome 2 open reading frame 21"""	C2orf21		19092807	Standard	NM_032504		Approved	FLJ33496, KIAA1843, UNC-80	uc010zjc.1	Q8N2C7	OTTHUMG00000132963	ENST00000439458.1:c.474A>T	2.37:g.210642157A>T						UNC80_uc002vdj.1_Silent_p.P158P	p.P158P	NM_032504	NP_115893	Q8N2C7	UNC80_HUMAN			4	554	+			158					B2RN50|B4DQY9|B4DZB3|C4IXS8|C9J1U3|Q96JI4|Q96SS0	Silent	SNP	ENST00000439458.1	37	c.474A>T	CCDS46504.1																																																																																				0.527	UNC80-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_182587		31	25	0	0	0	0.009535	0	31	25				
CPS1	1373	broad.mit.edu	37	2	211454856	211454856	+	Silent	SNP	C	C	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr2:211454856C>T	ENST00000233072.5	+	8	934	c.738C>T	c.(736-738)ccC>ccT	p.P246P	CPS1_ENST00000430249.2_Silent_p.P252P	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	246	Glutamine amidotransferase type-1.				anion homeostasis (GO:0055081)|carbamoyl phosphate biosynthetic process (GO:0070409)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to cAMP (GO:0071320)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to glucagon stimulus (GO:0071377)|cellular response to oleic acid (GO:0071400)|citrulline biosynthetic process (GO:0019240)|glutamine catabolic process (GO:0006543)|glycogen catabolic process (GO:0005980)|hepatocyte differentiation (GO:0070365)|homocysteine metabolic process (GO:0050667)|midgut development (GO:0007494)|nitric oxide metabolic process (GO:0046209)|positive regulation of vasodilation (GO:0045909)|response to amine (GO:0014075)|response to amino acid (GO:0043200)|response to dexamethasone (GO:0071548)|response to drug (GO:0042493)|response to food (GO:0032094)|response to growth hormone (GO:0060416)|response to lipopolysaccharide (GO:0032496)|response to starvation (GO:0042594)|response to toxic substance (GO:0009636)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)|urea cycle (GO:0000050)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|carbamoyl-phosphate synthase (ammonia) activity (GO:0004087)|endopeptidase activity (GO:0004175)|glutamate binding (GO:0016595)|modified amino acid binding (GO:0072341)|phospholipid binding (GO:0005543)			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	Carglumic Acid(DB06775)	ACTTAGTTCCCTGGAACCATG	0.423																																							uc002vee.3		NA																	0				ovary(8)|central_nervous_system(3)|breast(1)|skin(1)	13						c.(736-738)CCC>CCT		carbamoyl-phosphate synthetase 1 isoform b							171.0	177.0	175.0					2																	211454856		2203	4300	6503	SO:0001819	synonymous_variant	1373				carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity	g.chr2:211454856C>T	AF154830	CCDS2393.1, CCDS46505.1, CCDS46506.1	2p	2014-09-17	2010-05-11		ENSG00000021826	ENSG00000021826	6.3.4.16		2323	protein-coding gene	gene with protein product		608307	"""carbamoyl-phosphate synthetase 1, mitochondrial"""				Standard	NM_001122633		Approved		uc002vee.4	P31327	OTTHUMG00000132994	ENST00000233072.5:c.738C>T	2.37:g.211454856C>T						CPS1_uc010fur.2_Silent_p.P252P	p.P246P	NM_001875	NP_001866	P31327	CPSM_HUMAN		Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	8	870	+			246			Glutamine amidotransferase type-1.		B7Z818|J3KQL0|O43774|Q53TL5|Q59HF8|Q7Z5I5	Silent	SNP	ENST00000233072.5	37	c.738C>T	CCDS2393.1																																																																																				0.423	CPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256569.5			42	172	0	0	0	0.00361	0	42	172				
CPS1	1373	broad.mit.edu	37	2	211504764	211504764	+	Silent	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr2:211504764C>A	ENST00000233072.5	+	24	3136	c.2940C>A	c.(2938-2940)ggC>ggA	p.G980G	CPS1_ENST00000497121.1_3'UTR|CPS1_ENST00000451903.2_Silent_p.G529G|CPS1_ENST00000430249.2_Silent_p.G986G	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	980					anion homeostasis (GO:0055081)|carbamoyl phosphate biosynthetic process (GO:0070409)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to cAMP (GO:0071320)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to glucagon stimulus (GO:0071377)|cellular response to oleic acid (GO:0071400)|citrulline biosynthetic process (GO:0019240)|glutamine catabolic process (GO:0006543)|glycogen catabolic process (GO:0005980)|hepatocyte differentiation (GO:0070365)|homocysteine metabolic process (GO:0050667)|midgut development (GO:0007494)|nitric oxide metabolic process (GO:0046209)|positive regulation of vasodilation (GO:0045909)|response to amine (GO:0014075)|response to amino acid (GO:0043200)|response to dexamethasone (GO:0071548)|response to drug (GO:0042493)|response to food (GO:0032094)|response to growth hormone (GO:0060416)|response to lipopolysaccharide (GO:0032496)|response to starvation (GO:0042594)|response to toxic substance (GO:0009636)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)|urea cycle (GO:0000050)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|carbamoyl-phosphate synthase (ammonia) activity (GO:0004087)|endopeptidase activity (GO:0004175)|glutamate binding (GO:0016595)|modified amino acid binding (GO:0072341)|phospholipid binding (GO:0005543)			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	Carglumic Acid(DB06775)	TGGTGCTAGGCTGTGGTCCAT	0.303																																							uc002vee.3		NA																	0				ovary(8)|central_nervous_system(3)|breast(1)|skin(1)	13						c.(2938-2940)GGC>GGA		carbamoyl-phosphate synthetase 1 isoform b							137.0	133.0	134.0					2																	211504764		2203	4300	6503	SO:0001819	synonymous_variant	1373				carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity	g.chr2:211504764C>A	AF154830	CCDS2393.1, CCDS46505.1, CCDS46506.1	2p	2014-09-17	2010-05-11		ENSG00000021826	ENSG00000021826	6.3.4.16		2323	protein-coding gene	gene with protein product		608307	"""carbamoyl-phosphate synthetase 1, mitochondrial"""				Standard	NM_001122633		Approved		uc002vee.4	P31327	OTTHUMG00000132994	ENST00000233072.5:c.2940C>A	2.37:g.211504764C>A						CPS1_uc010fur.2_Silent_p.G986G|CPS1_uc010fus.2_Silent_p.G529G	p.G980G	NM_001875	NP_001866	P31327	CPSM_HUMAN		Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	24	3072	+			980					B7Z818|J3KQL0|O43774|Q53TL5|Q59HF8|Q7Z5I5	Silent	SNP	ENST00000233072.5	37	c.2940C>A	CCDS2393.1																																																																																				0.303	CPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256569.5			26	70	1	0	4.65686e-17	0.003755	6.44551e-17	26	70				
ERBB4	2066	broad.mit.edu	37	2	212295709	212295709	+	Missense_Mutation	SNP	C	C	G			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr2:212295709C>G	ENST00000342788.4	-	21	2914	c.2604G>C	c.(2602-2604)ttG>ttC	p.L868F	ERBB4_ENST00000436443.1_Missense_Mutation_p.L868F|ERBB4_ENST00000402597.1_Missense_Mutation_p.L858F	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	868	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cardiac muscle tissue regeneration (GO:0061026)|cell fate commitment (GO:0045165)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system morphogenesis (GO:0021551)|embryonic pattern specification (GO:0009880)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell differentiation (GO:0060644)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neurotrophin TRK receptor signaling pathway (GO:0048011)|olfactory bulb interneuron differentiation (GO:0021889)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of STAT protein import into nucleus (GO:2000366)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell migration (GO:0030334)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	basolateral plasma membrane (GO:0016323)|cytosol (GO:0005829)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transcription regulatory region DNA binding (GO:0044212)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)	Afatinib(DB08916)	CATCTCCTTCCAAGAGTCTGG	0.398										TSP Lung(8;0.080)																													uc002veg.1		NA																	0				lung(21)|skin(5)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	33						c.(2602-2604)TTG>TTC		v-erb-a erythroblastic leukemia viral oncogene							142.0	135.0	138.0					2																	212295709		2203	4300	6503	SO:0001583	missense	2066				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	g.chr2:212295709C>G	L07868	CCDS2394.1, CCDS42811.1	2q33.3-q34	2013-10-11	2013-07-09		ENSG00000178568	ENSG00000178568			3432	protein-coding gene	gene with protein product		600543	"""v-erb-a avian erythroblastic leukemia viral oncogene homolog-like 4"""			7700649, 17018285	Standard	NM_001042599		Approved	ALS19	uc002veg.1	Q15303	OTTHUMG00000133012	ENST00000342788.4:c.2604G>C	2.37:g.212295709C>G	ENSP00000342235:p.Leu868Phe	TSP Lung(8;0.080)				ERBB4_uc002veh.1_Missense_Mutation_p.L868F|ERBB4_uc010zji.1_Missense_Mutation_p.L858F|ERBB4_uc010zjj.1_Missense_Mutation_p.L858F	p.L868F	NM_005235	NP_005226	Q15303	ERBB4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)	21	2702	-		Renal(323;0.06)|Lung NSC(271;0.197)	868			Protein kinase.|Cytoplasmic (Potential).		B7ZLD7|B7ZLE2|B7ZLE3|Q2M1W1|Q59EW4	Missense_Mutation	SNP	ENST00000342788.4	37	c.2604G>C	CCDS2394.1	.	.	.	.	.	.	.	.	.	.	C	12.74	2.029892	0.35797	.	.	ENSG00000178568	ENST00000342788;ENST00000436443;ENST00000402597	D;D;D	0.83673	-1.75;-1.75;-1.75	5.19	1.9	0.25705	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.86977	0.6063	L	0.58302	1.8	0.80722	D	1	D;D;D;D	0.76494	0.969;0.999;0.969;0.975	B;D;B;P	0.69654	0.443;0.965;0.443;0.579	D	0.86487	0.1795	10	0.87932	D	0	.	10.4395	0.44457	0.0:0.7309:0.0:0.2691	.	858;858;868;868	Q15303-4;Q15303-2;Q15303-3;Q15303	.;.;.;ERBB4_HUMAN	F	868;868;858	ENSP00000342235:L868F;ENSP00000403204:L868F;ENSP00000385565:L858F	ENSP00000342235:L868F	L	-	3	2	ERBB4	212003954	1.000000	0.71417	1.000000	0.80357	0.167000	0.22549	1.251000	0.32862	0.689000	0.31550	-0.244000	0.11960	TTG		0.398	ERBB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256597.1	NM_001042599		15	90	0	0	0	0.008871	0	15	90				
ERBB4	2066	broad.mit.edu	37	2	212568860	212568860	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr2:212568860G>T	ENST00000342788.4	-	11	1568	c.1258C>A	c.(1258-1260)Ctg>Atg	p.L420M	ERBB4_ENST00000436443.1_Missense_Mutation_p.L420M|ERBB4_ENST00000402597.1_Missense_Mutation_p.L420M	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	420					cardiac muscle tissue regeneration (GO:0061026)|cell fate commitment (GO:0045165)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system morphogenesis (GO:0021551)|embryonic pattern specification (GO:0009880)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell differentiation (GO:0060644)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neurotrophin TRK receptor signaling pathway (GO:0048011)|olfactory bulb interneuron differentiation (GO:0021889)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of STAT protein import into nucleus (GO:2000366)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell migration (GO:0030334)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	basolateral plasma membrane (GO:0016323)|cytosol (GO:0005829)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transcription regulatory region DNA binding (GO:0044212)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)	Afatinib(DB08916)	ATGGTCACCAGGTTAGAAAAA	0.393										TSP Lung(8;0.080)																													uc002veg.1		NA																	0				lung(21)|skin(5)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	33						c.(1258-1260)CTG>ATG		v-erb-a erythroblastic leukemia viral oncogene							122.0	120.0	121.0					2																	212568860		2203	4300	6503	SO:0001583	missense	2066				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	g.chr2:212568860G>T	L07868	CCDS2394.1, CCDS42811.1	2q33.3-q34	2013-10-11	2013-07-09		ENSG00000178568	ENSG00000178568			3432	protein-coding gene	gene with protein product		600543	"""v-erb-a avian erythroblastic leukemia viral oncogene homolog-like 4"""			7700649, 17018285	Standard	NM_001042599		Approved	ALS19	uc002veg.1	Q15303	OTTHUMG00000133012	ENST00000342788.4:c.1258C>A	2.37:g.212568860G>T	ENSP00000342235:p.Leu420Met	TSP Lung(8;0.080)				ERBB4_uc002veh.1_Missense_Mutation_p.L420M|ERBB4_uc010zji.1_Missense_Mutation_p.L420M|ERBB4_uc010zjj.1_Missense_Mutation_p.L420M|ERBB4_uc010fut.1_Missense_Mutation_p.L420M	p.L420M	NM_005235	NP_005226	Q15303	ERBB4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)	11	1356	-		Renal(323;0.06)|Lung NSC(271;0.197)	420			Extracellular (Potential).		B7ZLD7|B7ZLE2|B7ZLE3|Q2M1W1|Q59EW4	Missense_Mutation	SNP	ENST00000342788.4	37	c.1258C>A	CCDS2394.1	.	.	.	.	.	.	.	.	.	.	G	17.92	3.507855	0.64410	.	.	ENSG00000178568	ENST00000342788;ENST00000436443;ENST00000402597	D;D;D	0.96587	-4.06;-4.06;-4.06	6.02	2.3	0.28687	EGF receptor, L domain (1);	0.000000	0.85682	D	0.000000	D	0.98372	0.9459	H	0.95470	3.675	0.51767	D	0.999931	D;D;D;D;D	0.89917	0.999;1.0;1.0;0.999;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0	D	0.97690	1.0178	10	0.87932	D	0	.	9.9739	0.41772	0.3508:0.0:0.6492:0.0	.	420;420;279;420;420	Q15303-4;Q15303-2;Q53QS8;Q15303-3;Q15303	.;.;.;.;ERBB4_HUMAN	M	420	ENSP00000342235:L420M;ENSP00000403204:L420M;ENSP00000385565:L420M	ENSP00000342235:L420M	L	-	1	2	ERBB4	212277105	1.000000	0.71417	0.841000	0.33234	0.993000	0.82548	1.377000	0.34317	0.159000	0.19401	0.655000	0.94253	CTG		0.393	ERBB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256597.1	NM_001042599		9	90	1	0	9.05144e-12	0.001855	1.1546e-11	9	90				
CRYBA2	1412	broad.mit.edu	37	2	219855051	219855051	+	Missense_Mutation	SNP	C	C	G			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr2:219855051C>G	ENST00000295728.2	-	4	753	c.517G>C	c.(517-519)Gag>Cag	p.E173Q	CRYBA2_ENST00000487181.1_5'UTR|CRYBA2_ENST00000392096.2_Missense_Mutation_p.E173Q	NM_057093.1	NP_476434.1	P53672	CRBA2_HUMAN	crystallin, beta A2	173	Beta/gamma crystallin 'Greek key' 4. {ECO:0000255|PROSITE-ProRule:PRU00028}.				lens development in camera-type eye (GO:0002088)		structural constituent of eye lens (GO:0005212)			endometrium(1)|lung(3)|prostate(1)	5		Renal(207;0.0474)		Epithelial(149;9.77e-07)|all cancers(144;0.000167)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GTACAGAACTCTCCGCTGTGC	0.632																																							uc002vjj.1		NA																	0					0						c.(517-519)GAG>CAG		crystallin, beta A2							120.0	104.0	110.0					2																	219855051		2203	4300	6503	SO:0001583	missense	1412						structural constituent of eye lens	g.chr2:219855051C>G		CCDS2429.1	2q35	2013-02-14			ENSG00000163499	ENSG00000163499			2395	protein-coding gene	gene with protein product		600836				7490092, 12907171	Standard	NM_057093		Approved		uc002vjj.1	P53672	OTTHUMG00000133084	ENST00000295728.2:c.517G>C	2.37:g.219855051C>G	ENSP00000295728:p.Glu173Gln					CRYBA2_uc002vjk.1_Missense_Mutation_p.E173Q	p.E173Q	NM_057094	NP_476435	P53672	CRBA2_HUMAN		Epithelial(149;9.77e-07)|all cancers(144;0.000167)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	5	552	-		Renal(207;0.0474)	173			Beta/gamma crystallin 'Greek key' 4.		Q4ZFX0|Q9Y562	Missense_Mutation	SNP	ENST00000295728.2	37	c.517G>C	CCDS2429.1	.	.	.	.	.	.	.	.	.	.	c	15.40	2.822625	0.50739	.	.	ENSG00000163499	ENST00000392096;ENST00000295728	T;T	0.79845	-1.31;-1.31	4.3	3.42	0.39159	Beta/gamma crystallin (4);Gamma-crystallin-related (1);	0.053196	0.64402	N	0.000001	D	0.90868	0.7131	M	0.90922	3.16	0.58432	D	0.999999	D	0.71674	0.998	D	0.76575	0.988	D	0.92077	0.5669	10	0.54805	T	0.06	.	14.0201	0.64547	0.0:0.8474:0.1526:0.0	.	173	P53672	CRBA2_HUMAN	Q	173	ENSP00000375946:E173Q;ENSP00000295728:E173Q	ENSP00000295728:E173Q	E	-	1	0	CRYBA2	219563295	1.000000	0.71417	0.988000	0.46212	0.063000	0.16089	5.771000	0.68881	1.031000	0.39867	-0.131000	0.14894	GAG		0.632	CRYBA2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336424.1	NM_057093		12	81	0	0	0	0.00245	0	12	81				
PTPRN	5798	broad.mit.edu	37	2	220162135	220162135	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr2:220162135C>A	ENST00000295718.2	-	14	2148	c.1908G>T	c.(1906-1908)atG>atT	p.M636I	PTPRN_ENST00000409251.3_Missense_Mutation_p.M607I|PTPRN_ENST00000497977.1_5'Flank|PTPRN_ENST00000423636.2_Missense_Mutation_p.M546I|AC114803.3_ENST00000417355.1_RNA	NM_002846.3	NP_002837.1	Q16849	PTPRN_HUMAN	protein tyrosine phosphatase, receptor type, N	636					cytokine-mediated signaling pathway (GO:0019221)|peptidyl-tyrosine dephosphorylation (GO:0035335)|response to cAMP (GO:0051591)|response to estrogen (GO:0043627)|response to glucose (GO:0009749)|response to insulin (GO:0032868)|response to reactive oxygen species (GO:0000302)	integral component of plasma membrane (GO:0005887)	spectrin binding (GO:0030507)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(3)|prostate(4)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Renal(207;0.0474)		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)		ACTTCGTGGCCATGTGCTGGC	0.612																																							uc002vkz.2		NA																	0				ovary(2)|lung(1)|skin(1)	4						c.(1906-1908)ATG>ATT		protein tyrosine phosphatase, receptor type, N							50.0	53.0	52.0					2																	220162135		2203	4300	6503	SO:0001583	missense	5798				response to reactive oxygen species	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	g.chr2:220162135C>A		CCDS2440.1, CCDS56167.1, CCDS56168.1	2q35-q36.1	2011-06-09			ENSG00000054356	ENSG00000054356		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	9676	protein-coding gene	gene with protein product		601773				8024693	Standard	NM_001199763		Approved	IA-2	uc002vkz.3	Q16849	OTTHUMG00000133129	ENST00000295718.2:c.1908G>T	2.37:g.220162135C>A	ENSP00000295718:p.Met636Ile					PTPRN_uc010zlc.1_Missense_Mutation_p.M546I|PTPRN_uc002vla.2_Missense_Mutation_p.M607I	p.M636I	NM_002846	NP_002837	Q16849	PTPRN_HUMAN		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)	14	1997	-		Renal(207;0.0474)	636			Cytoplasmic (Potential).		B4DK12|F5GZS3|Q08319|Q53QD6|Q6NSL1	Missense_Mutation	SNP	ENST00000295718.2	37	c.1908G>T	CCDS2440.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.315946	0.81469	.	.	ENSG00000054356	ENST00000409251;ENST00000295718;ENST00000539342;ENST00000537666	T;T;T	0.05382	3.73;3.46;3.45	4.22	4.22	0.49857	.	0.059127	0.64402	D	0.000004	T	0.21761	0.0524	M	0.75615	2.305	0.80722	D	1	P;P	0.51449	0.9;0.945	B;P	0.58331	0.438;0.837	T	0.01432	-1.1356	10	0.72032	D	0.01	.	16.3886	0.83524	0.0:1.0:0.0:0.0	.	607;636	Q6NSL1;Q16849	.;PTPRN_HUMAN	I	607;636;607;546	ENSP00000386638:M607I;ENSP00000295718:M636I;ENSP00000444244:M546I	ENSP00000295718:M636I	M	-	3	0	PTPRN	219870379	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	5.281000	0.65609	2.180000	0.69256	0.561000	0.74099	ATG		0.612	PTPRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256819.2			51	41	1	0	4.33383e-22	0.00361	6.34664e-22	51	41				
STK11IP	114790	broad.mit.edu	37	2	220473406	220473406	+	Missense_Mutation	SNP	G	G	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr2:220473406G>A	ENST00000456909.1	+	15	1795	c.1705G>A	c.(1705-1707)Gtg>Atg	p.V569M	STK11IP_ENST00000295641.10_Missense_Mutation_p.V580M			Q8N1F8	S11IP_HUMAN	serine/threonine kinase 11 interacting protein	580	Glu-rich.				protein localization (GO:0008104)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)	protein kinase binding (GO:0019901)			breast(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|urinary_tract(1)	23		Renal(207;0.0183)		Epithelial(149;2.69e-07)|all cancers(144;5.91e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCTGTTTGAGGTGGAACTCCA	0.642																																							uc002vml.2		NA																	0				ovary(1)	1						c.(1738-1740)GTG>ATG		LKB1 interacting protein							43.0	48.0	47.0					2																	220473406		2005	4167	6172	SO:0001583	missense	114790				protein localization	cytoplasm	protein kinase binding	g.chr2:220473406G>A	AF450267	CCDS46521.1	2q35	2008-06-03			ENSG00000144589	ENSG00000144589			19184	protein-coding gene	gene with protein product	"""LKB1 interacting protein"""	607172				11741830	Standard	NM_052902		Approved	LIP1, KIAA1898, LKB1IP, STK11IP1	uc002vml.3	Q8N1F8	OTTHUMG00000059239	ENST00000456909.1:c.1705G>A	2.37:g.220473406G>A	ENSP00000389383:p.Val569Met					STK11IP_uc010zll.1_Missense_Mutation_p.V537M|STK11IP_uc002vmm.1_Missense_Mutation_p.V569M	p.V580M	NM_052902	NP_443134	Q8N1F8	S11IP_HUMAN		Epithelial(149;2.69e-07)|all cancers(144;5.91e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	15	1781	+		Renal(207;0.0183)	580			Glu-rich.		Q8NAW9|Q8WXE4|Q96CN3|Q96PY9	Missense_Mutation	SNP	ENST00000456909.1	37	c.1738G>A		.	.	.	.	.	.	.	.	.	.	G	15.50	2.852274	0.51270	.	.	ENSG00000144589	ENST00000456909;ENST00000426736;ENST00000295641	T;T	0.10573	2.87;2.86	4.4	4.4	0.53042	.	0.078299	0.51477	D	0.000090	T	0.25901	0.0631	L	0.49640	1.575	0.51012	D	0.999907	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.91635	0.999;0.996;0.999	T	0.00581	-1.1660	10	0.38643	T	0.18	-18.7361	13.9949	0.64390	0.0:0.0:1.0:0.0	.	548;580;580	B4DUE4;Q8N1F8-2;Q8N1F8	.;.;S11IP_HUMAN	M	569;548;580	ENSP00000389383:V569M;ENSP00000295641:V580M	ENSP00000295641:V580M	V	+	1	0	STK11IP	220181650	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.212000	0.65225	2.264000	0.75181	0.561000	0.74099	GTG		0.642	STK11IP-001	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000131432.1	NM_052902		7	25	0	0	0	0.00308	0	7	25				
SLC4A3	6508	broad.mit.edu	37	2	220505639	220505639	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr2:220505639G>T	ENST00000358055.3	+	22	4088	c.3576G>T	c.(3574-3576)agG>agT	p.R1192S	SLC4A3_ENST00000273063.6_Missense_Mutation_p.R1219S|SLC4A3_ENST00000317151.3_Missense_Mutation_p.R1192S|SLC4A3_ENST00000373762.3_Missense_Mutation_p.R1219S|SLC4A3_ENST00000373760.2_Missense_Mutation_p.R1192S			P48751	B3A3_HUMAN	solute carrier family 4 (anion exchanger), member 3	1192	Membrane (anion exchange).				bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|regulation of intracellular pH (GO:0051453)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TGCCTCTGAGGCATTGCCTTC	0.637																																							uc002vmp.3		NA																	0				ovary(2)|upper_aerodigestive_tract(1)|breast(1)|skin(1)	5						c.(3574-3576)AGG>AGT		solute carrier family 4, anion exchanger, member							52.0	47.0	49.0					2																	220505639		2203	4300	6503	SO:0001583	missense	6508				bicarbonate transport	integral to plasma membrane|membrane fraction	inorganic anion exchanger activity	g.chr2:220505639G>T		CCDS2445.1, CCDS2446.1	2q35	2013-07-19	2013-07-19		ENSG00000114923	ENSG00000114923		"""Solute carriers"""	11029	protein-coding gene	gene with protein product	"""Anion exchanger 3, neuronal"""	106195	"""solute carrier family 4, anion exchanger, member 3"""			8001971	Standard	NM_005070		Approved	AE3, SLC2C	uc002vmo.4	P48751	OTTHUMG00000059238	ENST00000358055.3:c.3576G>T	2.37:g.220505639G>T	ENSP00000350756:p.Arg1192Ser					SLC4A3_uc002vmo.3_Missense_Mutation_p.R1219S|SLC4A3_uc010fwm.2_Missense_Mutation_p.R742S	p.R1192S	NM_005070	NP_005061	P48751	B3A3_HUMAN		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	22	3845	+		Renal(207;0.0183)	1192			Membrane (anion exchange).		A6H8L2|A8K1Q9|B7ZVX6|B9EGD1|Q6YIQ9	Missense_Mutation	SNP	ENST00000358055.3	37	c.3576G>T	CCDS2445.1	.	.	.	.	.	.	.	.	.	.	G	18.86	3.712802	0.68730	.	.	ENSG00000114923	ENST00000358055;ENST00000373760;ENST00000273063;ENST00000373762;ENST00000317151	D;D;D;D;D	0.82167	-1.58;-1.58;-1.58;-1.58;-1.58	4.98	4.98	0.66077	.	0.057243	0.64402	D	0.000001	D	0.92492	0.7616	H	0.95294	3.65	0.54753	D	0.999986	D;D;D	0.65815	0.995;0.973;0.984	D;P;P	0.68192	0.956;0.829;0.891	D	0.93462	0.6811	10	0.72032	D	0.01	.	9.6423	0.39846	0.1303:0.0:0.8697:0.0	.	896;1192;1219	P48751-2;P48751;P48751-3	.;B3A3_HUMAN;.	S	1192;1192;1219;1219;1192	ENSP00000350756:R1192S;ENSP00000362865:R1192S;ENSP00000273063:R1219S;ENSP00000362867:R1219S;ENSP00000314006:R1192S	ENSP00000273063:R1219S	R	+	3	2	SLC4A3	220213883	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.086000	0.30853	2.314000	0.78098	0.563000	0.77884	AGG		0.637	SLC4A3-009	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316472.1	NM_005070		17	60	1	0	1.67942e-08	0.006122	2.01012e-08	17	60				
SERPINE2	5270	broad.mit.edu	37	2	224866523	224866523	+	Missense_Mutation	SNP	G	G	T	rs377330114		TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr2:224866523G>T	ENST00000258405.4	-	2	337	c.95C>A	c.(94-96)tCc>tAc	p.S32Y	SERPINE2_ENST00000409304.1_Missense_Mutation_p.S32Y|SERPINE2_ENST00000409840.3_Missense_Mutation_p.S32Y|SERPINE2_ENST00000447280.2_Missense_Mutation_p.S44Y	NM_001136528.1|NM_006216.3	NP_001130000.1|NP_006207.1	P07093	GDN_HUMAN	serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 2	32					blood coagulation (GO:0007596)|cerebellar granular layer morphogenesis (GO:0021683)|detection of mechanical stimulus involved in sensory perception (GO:0050974)|innervation (GO:0060384)|long-term synaptic potentiation (GO:0060291)|mating plug formation (GO:0042628)|negative regulation of blood coagulation (GO:0030195)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of plasminogen activation (GO:0010757)|negative regulation of platelet activation (GO:0010544)|negative regulation of platelet aggregation (GO:0090331)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of protein processing (GO:0010955)|negative regulation of proteolysis (GO:0045861)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of sodium ion transport (GO:0010766)|positive regulation of astrocyte differentiation (GO:0048711)|regulation of cell migration (GO:0030334)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of timing of cell differentiation (GO:0048505)|secretion by cell (GO:0032940)|secretory granule organization (GO:0033363)|seminal vesicle epithelium development (GO:0061108)	cytosol (GO:0005829)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extrinsic component of external side of plasma membrane (GO:0031232)|neuromuscular junction (GO:0031594)|platelet alpha granule (GO:0031091)|vesicle (GO:0031982)	glycosaminoglycan binding (GO:0005539)|heparin binding (GO:0008201)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(2)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)	17		Renal(207;0.025)|all_lung(227;0.0586)|Lung NSC(271;0.0682)|all_hematologic(139;0.0797)		Epithelial(121;5.68e-10)|all cancers(144;1.9e-07)|Lung(261;0.0088)|LUSC - Lung squamous cell carcinoma(224;0.00902)		CCCCGTGTTGGAGCCTAGTTC	0.547																																							uc002vnu.2		NA																	0				breast(2)|ovary(1)|central_nervous_system(1)	4						c.(94-96)TCC>TAC		plasminogen activator inhibitor type 1, member 2							120.0	126.0	124.0					2																	224866523		2203	4300	6503	SO:0001583	missense	5270				negative regulation of blood coagulation|negative regulation of plasminogen activation|negative regulation of platelet aggregation|positive regulation of astrocyte differentiation|regulation of cell migration	cytosol|extracellular matrix|extracellular space|extrinsic to external side of plasma membrane|neuromuscular junction|platelet alpha granule	heparin binding|receptor binding|serine-type endopeptidase inhibitor activity	g.chr2:224866523G>T	M17783	CCDS2460.1, CCDS46525.1, CCDS46526.1	2q36.1	2014-02-18	2005-08-18		ENSG00000135919	ENSG00000135919		"""Serine (or cysteine) peptidase inhibitors"""	8951	protein-coding gene	gene with protein product	"""glial-derived nexin 1"""	177010	"""serine (or cysteine) proteinase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 2"""	PI7		7665170, 24172014	Standard	NM_006216		Approved	PN1, GDN, PNI, nexin	uc002vnu.2	P07093	OTTHUMG00000133163	ENST00000258405.4:c.95C>A	2.37:g.224866523G>T	ENSP00000258405:p.Ser32Tyr					SERPINE2_uc002vnt.2_Missense_Mutation_p.S32Y|SERPINE2_uc010zlr.1_Missense_Mutation_p.S44Y|SERPINE2_uc002vnv.2_Missense_Mutation_p.S32Y	p.S32Y	NM_006216	NP_006207	P07093	GDN_HUMAN		Epithelial(121;5.68e-10)|all cancers(144;1.9e-07)|Lung(261;0.0088)|LUSC - Lung squamous cell carcinoma(224;0.00902)	2	338	-		Renal(207;0.025)|all_lung(227;0.0586)|Lung NSC(271;0.0682)|all_hematologic(139;0.0797)	32					B2R6A4|B4DIF2|Q53S15|Q5D0C4	Missense_Mutation	SNP	ENST00000258405.4	37	c.95C>A	CCDS2460.1	.	.	.	.	.	.	.	.	.	.	G	26.8	4.771879	0.90108	.	.	ENSG00000135919	ENST00000409304;ENST00000258405;ENST00000409840;ENST00000447280;ENST00000432738;ENST00000454956;ENST00000423446	T;T;T;T;T;D	0.82803	1.95;-0.86;1.95;1.95;1.95;-1.65	5.17	5.17	0.71159	Serpin domain (1);	0.000000	0.85682	D	0.000000	D	0.92753	0.7696	M	0.88704	2.975	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.93881	0.7171	10	0.87932	D	0	.	19.0325	0.92963	0.0:0.0:1.0:0.0	.	44;32	B4DIF2;P07093	.;GDN_HUMAN	Y	32;32;32;44;32;32;32	ENSP00000386412:S32Y;ENSP00000258405:S32Y;ENSP00000386969:S32Y;ENSP00000415786:S44Y;ENSP00000408452:S32Y;ENSP00000399655:S32Y	ENSP00000258405:S32Y	S	-	2	0	SERPINE2	224574767	1.000000	0.71417	0.949000	0.38748	0.923000	0.55619	8.800000	0.91900	2.553000	0.86117	0.655000	0.94253	TCC		0.547	SERPINE2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256865.2	NM_006216		23	133	1	0	3.08376e-08	0.00333	3.65631e-08	23	133				
DOCK10	55619	broad.mit.edu	37	2	225635044	225635044	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr2:225635044G>T	ENST00000258390.7	-	55	6395	c.6328C>A	c.(6328-6330)Cag>Aag	p.Q2110K	DOCK10_ENST00000409592.3_Missense_Mutation_p.Q2104K	NM_014689.2	NP_055504.2	Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	2110	DHR-2.				regulation of cell migration (GO:0030334)|small GTPase mediated signal transduction (GO:0007264)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		TCAAGGGCCTGCCCACATGCA	0.507																																							uc010fwz.1		NA																	0				ovary(2)	2						c.(6328-6330)CAG>AAG		dedicator of cytokinesis 10							85.0	78.0	80.0					2																	225635044		2027	4195	6222	SO:0001583	missense	55619						GTP binding	g.chr2:225635044G>T	AB014594	CCDS46528.1, CCDS74661.1	2q36.3	2013-01-10			ENSG00000135905	ENSG00000135905		"""Pleckstrin homology (PH) domain containing"""	23479	protein-coding gene	gene with protein product	"""zizimin3"""	611518				12432077	Standard	NM_014689		Approved	ZIZ3, KIAA0694	uc010fwz.1	Q96BY6	OTTHUMG00000153428	ENST00000258390.7:c.6328C>A	2.37:g.225635044G>T	ENSP00000258390:p.Gln2110Lys					DOCK10_uc002vob.2_Missense_Mutation_p.Q2104K|DOCK10_uc002voa.2_Missense_Mutation_p.Q766K	p.Q2110K	NM_014689	NP_055504	Q96BY6	DOC10_HUMAN		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)	55	6567	-		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)	2110			DHR-2.		B3FL70|O75178|Q9NW06|Q9NXI8	Missense_Mutation	SNP	ENST00000258390.7	37	c.6328C>A	CCDS46528.1	.	.	.	.	.	.	.	.	.	.	G	12.12	1.843784	0.32606	.	.	ENSG00000135905	ENST00000409592;ENST00000258390;ENST00000373702	T;T	0.16196	2.36;2.36	5.27	4.38	0.52667	.	0.320365	0.34338	N	0.004059	T	0.11495	0.0280	L	0.27053	0.805	0.35920	D	0.831731	B;B;B	0.16802	0.001;0.019;0.008	B;B;B	0.25987	0.012;0.065;0.016	T	0.06197	-1.0840	10	0.05721	T	0.95	.	13.2711	0.60161	0.0762:0.0:0.9238:0.0	.	2110;2104;772	Q96BY6;B3FL70;B4DEY4	DOC10_HUMAN;.;.	K	2104;2110;617	ENSP00000386694:Q2104K;ENSP00000258390:Q2110K	ENSP00000258390:Q2110K	Q	-	1	0	DOCK10	225343288	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	6.786000	0.75094	2.472000	0.83506	0.563000	0.77884	CAG		0.507	DOCK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331246.1			8	12	1	0	1.08611e-07	0.000978	1.26254e-07	8	12				
NYAP2	57624	broad.mit.edu	37	2	226447034	226447034	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr2:226447034G>T	ENST00000272907.6	+	4	1314	c.901G>T	c.(901-903)Gtg>Ttg	p.V301L	NYAP2_ENST00000409269.2_Intron	NM_020864.1	NP_065915.1	Q9P242	NYAP2_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2	301					neuron projection morphogenesis (GO:0048812)|phosphatidylinositol 3-kinase signaling (GO:0014065)												TACTCCCACGGTGCCTGACTT	0.572																																							uc002voe.2		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(901-903)GTG>TTG		hypothetical protein LOC57624							76.0	80.0	79.0					2																	226447034		2102	4209	6311	SO:0001583	missense	57624							g.chr2:226447034G>T	AB040919	CCDS46529.1	2q36.3	2011-11-30	2011-11-30	2011-11-30	ENSG00000144460	ENSG00000144460			29291	protein-coding gene	gene with protein product		615478	"""KIAA1486"""	KIAA1486		10819331, 21946561	Standard	NM_020864		Approved		uc002voe.2	Q9P242	OTTHUMG00000153450	ENST00000272907.6:c.901G>T	2.37:g.226447034G>T	ENSP00000272907:p.Val301Leu					KIAA1486_uc010fxa.1_Intron|KIAA1486_uc002vof.1_Missense_Mutation_p.V71L	p.V301L	NM_020864	NP_065915	Q9P242	K1486_HUMAN		Epithelial(121;6.73e-10)|all cancers(144;4.32e-07)|Lung(261;0.0161)|LUSC - Lung squamous cell carcinoma(224;0.0223)	4	1076	+		Renal(207;0.0112)|all_lung(227;0.0477)|Lung NSC(271;0.0644)|all_hematologic(139;0.101)|Esophageal squamous(248;0.129)	301					A2RRN4|Q96NL2	Missense_Mutation	SNP	ENST00000272907.6	37	c.901G>T	CCDS46529.1	.	.	.	.	.	.	.	.	.	.	G	11.45	1.642694	0.29246	.	.	ENSG00000144460	ENST00000272907	T	0.30448	1.53	5.84	4.96	0.65561	.	0.287955	0.33591	N	0.004759	T	0.27241	0.0668	L	0.32530	0.975	0.80722	D	1	P	0.48589	0.912	P	0.45998	0.5	T	0.02444	-1.1158	10	0.11485	T	0.65	-24.3243	14.4959	0.67685	0.0697:0.0:0.9303:0.0	.	301	Q9P242	K1486_HUMAN	L	301	ENSP00000272907:V301L	ENSP00000272907:V301L	V	+	1	0	KIAA1486	226155278	1.000000	0.71417	1.000000	0.80357	0.832000	0.47134	5.438000	0.66550	1.474000	0.48178	0.650000	0.86243	GTG		0.572	NYAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331258.1	NM_020864		14	64	1	0	1.3612e-06	0.003163	1.55017e-06	14	64				
IRS1	3667	broad.mit.edu	37	2	227663346	227663346	+	Missense_Mutation	SNP	C	C	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr2:227663346C>T	ENST00000305123.5	-	1	1129	c.109G>A	c.(109-111)Gag>Aag	p.E37K	RP11-395N3.2_ENST00000607970.1_lincRNA	NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN	insulin receptor substrate 1	37	Mediates interaction with PHIP. {ECO:0000250}.|PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				cellular response to insulin stimulus (GO:0032869)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose homeostasis (GO:0042593)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipid catabolic process (GO:0016042)|mammary gland development (GO:0030879)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of insulin secretion (GO:0046676)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|protein kinase B signaling (GO:0043491)|protein localization to nucleus (GO:0034504)|regulation of gene expression (GO:0010468)|response to insulin (GO:0032868)|response to peptide hormone (GO:0043434)|signal transduction (GO:0007165)	caveola (GO:0005901)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|insulin receptor complex (GO:0005899)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	insulin receptor binding (GO:0005158)|insulin-like growth factor receptor binding (GO:0005159)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein kinase C binding (GO:0005080)|SH2 domain binding (GO:0042169)|signal transducer activity (GO:0004871)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		CCCCCAGCCTCGCTGGCCGCG	0.647																																							uc002voh.3		NA																	0				lung(5)|central_nervous_system(4)|ovary(2)|pancreas(1)	12						c.(109-111)GAG>AAG		insulin receptor substrate 1							47.0	57.0	53.0					2																	227663346		2203	4300	6503	SO:0001583	missense	3667				fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity	g.chr2:227663346C>T		CCDS2463.1	2q36	2013-01-10			ENSG00000169047	ENSG00000169047		"""Pleckstrin homology (PH) domain containing"""	6125	protein-coding gene	gene with protein product		147545				1648180	Standard	NM_005544		Approved	HIRS-1	uc002voh.4	P35568	OTTHUMG00000133179	ENST00000305123.5:c.109G>A	2.37:g.227663346C>T	ENSP00000304895:p.Glu37Lys						p.E37K	NM_005544	NP_005535	P35568	IRS1_HUMAN		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)	1	161	-		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)	37			PH.|Mediates interaction with PHIP (By similarity).			Missense_Mutation	SNP	ENST00000305123.5	37	c.109G>A	CCDS2463.1	.	.	.	.	.	.	.	.	.	.	C	32	5.131315	0.94473	.	.	ENSG00000169047	ENST00000305123	T	0.71698	-0.59	5.37	5.37	0.77165	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.216872	0.30667	N	0.009140	T	0.70133	0.3189	L	0.56769	1.78	0.52501	D	0.999955	P	0.49447	0.924	B	0.43889	0.435	T	0.67469	-0.5663	10	0.21014	T	0.42	-21.7145	19.0763	0.93163	0.0:1.0:0.0:0.0	.	37	P35568	IRS1_HUMAN	K	37	ENSP00000304895:E37K	ENSP00000304895:E37K	E	-	1	0	IRS1	227371590	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.801000	0.62532	2.676000	0.91093	0.561000	0.74099	GAG		0.647	IRS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256886.3	NM_005544		12	75	0	0	0	0.003163	0	12	75				
COL4A4	1286	broad.mit.edu	37	2	227953497	227953497	+	Missense_Mutation	SNP	T	T	C			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr2:227953497T>C	ENST00000396625.3	-	22	1702	c.1495A>G	c.(1495-1497)Atg>Gtg	p.M499V	COL4A4_ENST00000329662.7_Missense_Mutation_p.M499V	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	499	Triple-helical region.				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		GGGGGGCCCATGGGTCCAGGC	0.552																																							uc010zlt.1		NA																	0				ovary(5)|central_nervous_system(3)|pancreas(1)|breast(1)|skin(1)	11						c.(1495-1497)ATG>GTG		alpha 4 type IV collagen precursor							62.0	63.0	62.0					2																	227953497		1856	4096	5952	SO:0001583	missense	1286				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding	g.chr2:227953497T>C		CCDS42828.1	2q35-q37	2014-09-17			ENSG00000081052	ENSG00000081052		"""Collagens"""	2206	protein-coding gene	gene with protein product	"""collagen of basement membrane, alpha-4 chain"""	120131				1639407	Standard	NM_000092		Approved	CA44	uc021vxs.1	P53420	OTTHUMG00000149892	ENST00000396625.3:c.1495A>G	2.37:g.227953497T>C	ENSP00000379866:p.Met499Val						p.M499V	NM_000092	NP_000083	P53420	CO4A4_HUMAN		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)	22	2149	-		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)	499			Triple-helical region.		A8MTZ1|Q53RW9|Q53S42|Q53WR1	Missense_Mutation	SNP	ENST00000396625.3	37	c.1495A>G	CCDS42828.1	.	.	.	.	.	.	.	.	.	.	T	0.679	-0.798956	0.02841	.	.	ENSG00000081052	ENST00000396625;ENST00000329662	D;D	0.93307	-3.2;-3.2	5.03	-1.88	0.07713	.	.	.	.	.	T	0.80869	0.4706	N	0.05414	-0.055	0.09310	N	0.999999	B	0.02656	0.0	B	0.04013	0.001	T	0.66662	-0.5867	9	0.25106	T	0.35	.	3.4924	0.07642	0.3169:0.2307:0.0:0.4525	.	499	P53420	CO4A4_HUMAN	V	499	ENSP00000379866:M499V;ENSP00000328553:M499V	ENSP00000328553:M499V	M	-	1	0	COL4A4	227661741	0.015000	0.18098	0.019000	0.16419	0.538000	0.34931	-0.456000	0.06754	-0.629000	0.05575	-0.376000	0.06991	ATG		0.552	COL4A4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313770.1	NM_000092		13	63	0	0	0	0.00499	0	13	63				
TRIP12	9320	broad.mit.edu	37	2	230633405	230633405	+	Silent	SNP	G	G	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr2:230633405G>A	ENST00000283943.5	-	40	5887	c.5709C>T	c.(5707-5709)ctC>ctT	p.L1903L	TRIP12_ENST00000389045.3_Silent_p.L1633L|TRIP12_ENST00000389044.4_Silent_p.L1951L	NM_001284214.1|NM_004238.1	NP_001271143.1|NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	1903	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|embryo development (GO:0009790)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligase activity (GO:0016874)|thyroid hormone receptor binding (GO:0046966)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		CAAAACTACTGAGAATCTCAA	0.373																																							uc002vpw.1		NA																	0				ovary(4)|lung(2)|breast(1)|central_nervous_system(1)|skin(1)	9						c.(5707-5709)CTC>CTT		thyroid hormone receptor interactor 12							92.0	85.0	87.0					2																	230633405		2203	4300	6503	SO:0001819	synonymous_variant	9320				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity	g.chr2:230633405G>A	L40383	CCDS33391.1, CCDS63145.1, CCDS63146.1	2q36.3	2008-05-27			ENSG00000153827	ENSG00000153827			12306	protein-coding gene	gene with protein product		604506				7776974	Standard	XM_005246961		Approved	KIAA0045	uc002vpw.1	Q14669	OTTHUMG00000153623	ENST00000283943.5:c.5709C>T	2.37:g.230633405G>A						TRIP12_uc002vpx.1_Silent_p.L1951L|TRIP12_uc002vpy.1_Silent_p.L1633L	p.L1903L	NM_004238	NP_004229	Q14669	TRIPC_HUMAN		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)	40	5818	-		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)	1903			HECT.		D4HL82|Q14CA3|Q14CF1|Q15644|Q53R87|Q53TE7	Silent	SNP	ENST00000283943.5	37	c.5709C>T	CCDS33391.1																																																																																				0.373	TRIP12-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000331861.3	NM_004238		6	32	0	0	0	0.001984	0	6	32				
ALPP	250	broad.mit.edu	37	2	233245181	233245181	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr2:233245181C>A	ENST00000392027.2	+	7	1113	c.844C>A	c.(844-846)Ccg>Acg	p.P282T	AC068134.8_ENST00000441266.1_RNA|AC068134.8_ENST00000439072.1_RNA	NM_001632.3	NP_001623.3	P05187	PPB1_HUMAN	alkaline phosphatase, placental	282					dephosphorylation (GO:0016311)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alkaline phosphatase activity (GO:0004035)|magnesium ion binding (GO:0000287)|zinc ion binding (GO:0008270)			NS(1)|biliary_tract(1)|endometrium(1)|kidney(4)|large_intestine(2)|liver(1)|lung(10)|ovary(2)	22		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)		TTCCCTGGACCCGTCTGTGAC	0.637																																							uc002vsq.2		NA																	0				ovary(1)	1						c.(844-846)CCG>ACG		placental alkaline phosphatase preproprotein							110.0	112.0	112.0					2																	233245181		2203	4300	6503	SO:0001583	missense	250					anchored to membrane|cell surface|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding	g.chr2:233245181C>A	M14169	CCDS2490.1	2q37.1	2010-06-24	2010-06-24		ENSG00000163283	ENSG00000163283	3.1.3.1		439	protein-coding gene	gene with protein product	"""Regan isozyme"""	171800	"""alkaline phosphatase, placental (Regan isozyme)"""			3001717, 3461452	Standard	XM_005246439		Approved		uc002vsq.3	P05187	OTTHUMG00000133255	ENST00000392027.2:c.844C>A	2.37:g.233245181C>A	ENSP00000375881:p.Pro282Thr					ALPP_uc002vsr.2_5'Flank	p.P282T	NM_001632	NP_001623	P05187	PPB1_HUMAN		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)	7	1009	+		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)	282					P05188|P06861|Q53S78|Q96DB7	Missense_Mutation	SNP	ENST00000392027.2	37	c.844C>A	CCDS2490.1	.	.	.	.	.	.	.	.	.	.	.	9.610	1.130906	0.21041	.	.	ENSG00000163283	ENST00000392027	D	0.95756	-3.8	3.2	-6.39	0.01951	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	1.224780	0.05286	N	0.520155	D	0.86096	0.5851	N	0.16903	0.455	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.76889	-0.2792	10	0.20046	T	0.44	.	1.0195	0.01515	0.2275:0.215:0.3378:0.2197	.	282	P05187	PPB1_HUMAN	T	282	ENSP00000375881:P282T	ENSP00000375881:P282T	P	+	1	0	ALPP	232953425	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-0.968000	0.03817	-2.123000	0.00823	0.305000	0.20034	CCG		0.637	ALPP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257032.3	NM_001632		22	91	1	0	8.4185e-14	0.002445	1.11327e-13	22	91				
ECEL1	9427	broad.mit.edu	37	2	233349546	233349546	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr2:233349546C>A	ENST00000304546.1	-	5	1234	c.1024G>T	c.(1024-1026)Gtg>Ttg	p.V342L	ECEL1_ENST00000409941.1_Missense_Mutation_p.V342L	NM_004826.2	NP_004817.2	O95672	ECEL1_HUMAN	endothelin converting enzyme-like 1	342					neuropeptide signaling pathway (GO:0007218)|respiratory system process (GO:0003016)	integral component of plasma membrane (GO:0005887)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000771)|Lung(119;0.00213)|LUSC - Lung squamous cell carcinoma(224;0.00746)		CCCAGCGTCACCTTGTTGTAC	0.602																																							uc002vsv.2		NA																	0				central_nervous_system(2)	2						c.(1024-1026)GTG>TTG		endothelin converting enzyme-like 1							131.0	115.0	121.0					2																	233349546		2203	4300	6503	SO:0001583	missense	9427				neuropeptide signaling pathway|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity	g.chr2:233349546C>A	Y16187	CCDS2493.1	2q37.1	2010-09-29			ENSG00000171551	ENSG00000171551			3147	protein-coding gene	gene with protein product	"""damage induced neuronal endopeptidase"""	605896				9931490, 11352565	Standard	NM_004826		Approved	XCE, DINE	uc002vsv.2	O95672	OTTHUMG00000133262	ENST00000304546.1:c.1024G>T	2.37:g.233349546C>A	ENSP00000302051:p.Val342Leu					ECEL1_uc010fya.1_Missense_Mutation_p.V342L|ECEL1_uc010fyb.1_Missense_Mutation_p.V49L	p.V342L	NM_004826	NP_004817	O95672	ECEL1_HUMAN		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000771)|Lung(119;0.00213)|LUSC - Lung squamous cell carcinoma(224;0.00746)	5	1229	-		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)	342			Lumenal (Potential).		Q45UD9|Q53RF9|Q6UW86|Q86TH4|Q9NY95	Missense_Mutation	SNP	ENST00000304546.1	37	c.1024G>T	CCDS2493.1	.	.	.	.	.	.	.	.	.	.	C	16.00	2.997387	0.54147	.	.	ENSG00000171551	ENST00000304546;ENST00000409941	T;T	0.73897	-0.79;-0.79	5.07	5.07	0.68467	Peptidase M13 (1);	0.184835	0.45867	D	0.000333	T	0.63803	0.2542	L	0.28504	0.86	0.50313	D	0.999867	B;B	0.29862	0.259;0.124	B;B	0.27608	0.067;0.081	T	0.63229	-0.6684	10	0.40728	T	0.16	-20.8663	15.2564	0.73588	0.1407:0.8593:0.0:0.0	.	342;342	O95672-2;O95672	.;ECEL1_HUMAN	L	342	ENSP00000302051:V342L;ENSP00000386333:V342L	ENSP00000302051:V342L	V	-	1	0	ECEL1	233057790	1.000000	0.71417	1.000000	0.80357	0.853000	0.48598	4.355000	0.59424	2.513000	0.84729	0.563000	0.77884	GTG		0.602	ECEL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257039.2	NM_004826		20	113	1	0	2.61193e-14	0.009535	3.47225e-14	20	113				
CHRNG	1146	broad.mit.edu	37	2	233409292	233409292	+	Splice_Site	SNP	T	T	G			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr2:233409292T>G	ENST00000389494.3	+	10	1270		c.e10+2		CHRNG_ENST00000389492.3_Splice_Site	NM_005199.4	NP_005190.4	P07510	ACHG_HUMAN	cholinergic receptor, nicotinic, gamma (muscle)						muscle contraction (GO:0006936)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|channel activity (GO:0015267)			breast(2)|endometrium(3)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1)	22		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;6.39e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00079)|LUSC - Lung squamous cell carcinoma(224;0.00757)|Lung(119;0.0086)	Galantamine(DB00674)	AGAAGCTAGGTGAGACACACC	0.662																																							uc002vsx.1		NA																	0					0						c.e10+2		cholinergic receptor, nicotinic, gamma							31.0	32.0	32.0					2																	233409292		2203	4299	6502	SO:0001630	splice_region_variant	1146				muscle contraction	cell junction|postsynaptic membrane	acetylcholine receptor activity	g.chr2:233409292T>G	X01715	CCDS33400.1	2q37.1	2012-10-02	2012-02-07		ENSG00000196811	ENSG00000196811		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1967	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, gamma (muscle)"""	100730	"""cholinergic receptor, nicotinic, gamma"""	ACHRG			Standard	NM_005199		Approved		uc002vsx.1	P07510	OTTHUMG00000153327	ENST00000389494.3:c.1249+2T>G	2.37:g.233409292T>G						CHRNG_uc010fye.1_Splice_Site_p.E365_splice	p.E417_splice	NM_005199	NP_005190	P07510	ACHG_HUMAN		Epithelial(121;6.39e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00079)|LUSC - Lung squamous cell carcinoma(224;0.00757)|Lung(119;0.0086)	10	1270	+		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)						B3KWM8|Q14DU4|Q53RG2	Splice_Site	SNP	ENST00000389494.3	37	c.1249_splice	CCDS33400.1	.	.	.	.	.	.	.	.	.	.	T	14.89	2.670395	0.47677	.	.	ENSG00000196811	ENST00000389494;ENST00000541596;ENST00000389492	.	.	.	5.21	5.21	0.72293	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.7455	0.69488	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	CHRNG	233117536	1.000000	0.71417	0.945000	0.38365	0.433000	0.31745	4.444000	0.60001	1.955000	0.56771	0.379000	0.24179	.		0.662	CHRNG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330743.1	NM_005199	Intron	7	29	0	0	0	0.004482	0	7	29				
GIGYF2	26058	broad.mit.edu	37	2	233655812	233655812	+	Missense_Mutation	SNP	A	A	G			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr2:233655812A>G	ENST00000409547.1	+	13	1336	c.1025A>G	c.(1024-1026)aAt>aGt	p.N342S	GIGYF2_ENST00000409196.3_Missense_Mutation_p.N336S|GIGYF2_ENST00000452341.2_Missense_Mutation_p.N173S|GIGYF2_ENST00000409451.3_Missense_Mutation_p.N364S|GIGYF2_ENST00000373566.3_Missense_Mutation_p.N364S|GIGYF2_ENST00000409480.1_Missense_Mutation_p.N364S|GIGYF2_ENST00000373563.4_Missense_Mutation_p.N342S	NM_015575.3	NP_056390.2	Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2	342					adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|feeding behavior (GO:0007631)|homeostasis of number of cells within a tissue (GO:0048873)|insulin-like growth factor receptor signaling pathway (GO:0048009)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|musculoskeletal movement (GO:0050881)|negative regulation of translation (GO:0017148)|neuromuscular process controlling balance (GO:0050885)|post-embryonic development (GO:0009791)|spinal cord motor neuron differentiation (GO:0021522)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		GGTAGCCATAATGAAGAGGCC	0.468																																							uc002vti.3		NA																	0				ovary(4)|central_nervous_system(3)	7						c.(1024-1026)AAT>AGT		GRB10 interacting GYF protein 2 isoform b							56.0	55.0	56.0					2																	233655812		2203	4300	6503	SO:0001583	missense	26058				cell death		protein binding	g.chr2:233655812A>G	U80751	CCDS33401.1, CCDS46542.1, CCDS46543.1	2q37.1	2011-07-06	2008-02-11	2008-02-11	ENSG00000204120	ENSG00000204120		"""Trinucleotide (CAG) repeat containing"""	11960	protein-coding gene	gene with protein product	"""GYF domain containing 2"""	612003	"""PERQ amino acid rich, with GYF domain 2"", ""PERQ amino acid rich, with GYF domain 3"", ""trinucleotide repeat containing 15"", ""Parkinson disease (autosomal recessive, early onset) 11"""	PERQ2, PERQ3, TNRC15, PARK11		9225980, 9734811, 12771153, 18358451, 19279319	Standard	NM_015575		Approved	KIAA0642, GYF2	uc002vtk.4	Q6Y7W6	OTTHUMG00000153237	ENST00000409547.1:c.1025A>G	2.37:g.233655812A>G	ENSP00000386537:p.Asn342Ser					GIGYF2_uc010zmj.1_Missense_Mutation_p.N342S|GIGYF2_uc002vtg.2_Missense_Mutation_p.N336S|GIGYF2_uc002vtj.3_Missense_Mutation_p.N364S|GIGYF2_uc002vtk.3_Missense_Mutation_p.N342S|GIGYF2_uc002vth.3_Missense_Mutation_p.N336S|GIGYF2_uc010zmk.1_RNA|GIGYF2_uc010zml.1_Missense_Mutation_p.N173S	p.N342S	NM_015575	NP_056390	Q6Y7W6	PERQ2_HUMAN		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)	13	1362	+		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)	342					A6H8W4|B9EG55|E9PBB0|O75137|Q7Z2Z8|Q7Z3I2|Q96HU4|Q9NV82	Missense_Mutation	SNP	ENST00000409547.1	37	c.1025A>G	CCDS33401.1	.	.	.	.	.	.	.	.	.	.	A	4.073	0.011359	0.07912	.	.	ENSG00000204120	ENST00000373566;ENST00000414511;ENST00000373563;ENST00000409480;ENST00000409547;ENST00000535418;ENST00000423659;ENST00000409196;ENST00000409451;ENST00000440945;ENST00000452341;ENST00000427649;ENST00000410033	T;T;T;T;T;T;T;T;T;D;D	0.82619	-0.65;-0.64;-0.65;-0.64;-0.79;-0.64;-0.64;-0.79;-0.52;-1.62;-1.63	5.34	5.34	0.76211	.	0.671331	0.16030	N	0.232914	T	0.73063	0.3539	L	0.47716	1.5	0.24012	N	0.996178	B;B;B;B	0.26708	0.157;0.11;0.0;0.091	B;B;B;B	0.23574	0.047;0.039;0.0;0.038	T	0.58923	-0.7550	10	0.06625	T	0.88	-7.5555	8.3622	0.32365	0.8648:0.0:0.1352:0.0	.	173;364;342;336	E9PC50;A6H8W4;Q6Y7W6;E9PBB0	.;.;PERQ2_HUMAN;.	S	364;285;342;364;342;342;285;336;364;336;173;94;124	ENSP00000362667:N364S;ENSP00000362664:N342S;ENSP00000386765:N364S;ENSP00000386537:N342S;ENSP00000404195:N285S;ENSP00000387070:N336S;ENSP00000387170:N364S;ENSP00000410297:N336S;ENSP00000411505:N173S;ENSP00000398055:N94S;ENSP00000387276:N124S	ENSP00000362664:N342S	N	+	2	0	GIGYF2	233364056	0.699000	0.27786	0.995000	0.50966	0.980000	0.70556	1.513000	0.35823	2.025000	0.59659	0.459000	0.35465	AAT		0.468	GIGYF2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000330316.2	NM_001103146		13	20	0	0	0	0.003163	0	13	20				
USP40	55230	broad.mit.edu	37	2	234442344	234442344	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr2:234442344C>A	ENST00000427112.2	-	10	1284	c.1249G>T	c.(1249-1251)Gct>Tct	p.A417S	USP40_ENST00000251722.6_Missense_Mutation_p.A417S|USP40_ENST00000450966.1_Missense_Mutation_p.A429S			Q9NVE5	UBP40_HUMAN	ubiquitin specific peptidase 40	417	USP.				ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)			breast(1)|endometrium(6)|kidney(5)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0539)		Epithelial(121;1.71e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000407)|Lung(119;0.00277)|LUSC - Lung squamous cell carcinoma(224;0.00646)		TCAGACTCAGCCTGGAGAGAA	0.403																																							uc010zmr.1		NA																	0				ovary(1)|lung(1)|breast(1)	3						c.(1285-1287)GCT>TCT		ubiquitin thioesterase 40							86.0	79.0	81.0					2																	234442344		1841	4085	5926	SO:0001583	missense	55230				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr2:234442344C>A	AK001647	CCDS46547.1	2q37.1	2005-08-08	2005-08-08		ENSG00000085982	ENSG00000085982		"""Ubiquitin-specific peptidases"""	20069	protein-coding gene	gene with protein product		610570	"""ubiquitin specific protease 40"""			12838346	Standard	NM_018218		Approved	FLJ10785	uc010zmr.2	Q9NVE5	OTTHUMG00000153199	ENST00000427112.2:c.1249G>T	2.37:g.234442344C>A	ENSP00000387898:p.Ala417Ser					USP40_uc010zmt.1_Missense_Mutation_p.A73S	p.A429S	NM_018218	NP_060688	Q9NVE5	UBP40_HUMAN		Epithelial(121;1.71e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000407)|Lung(119;0.00277)|LUSC - Lung squamous cell carcinoma(224;0.00646)	10	1285	-		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0539)	417					Q6NX38|Q70EL0	Missense_Mutation	SNP	ENST00000427112.2	37	c.1285G>T	CCDS46547.1	.	.	.	.	.	.	.	.	.	.	C	13.58	2.279252	0.40294	.	.	ENSG00000085982	ENST00000450966;ENST00000251722;ENST00000427112	T;T;T	0.05025	3.51;3.51;3.51	5.36	0.00881	0.14076	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	13.126700	0.00166	N	0.000000	T	0.05090	0.0136	L	0.29908	0.895	0.09310	N	1	B;B	0.21452	0.056;0.045	B;B	0.20955	0.032;0.019	T	0.36601	-0.9741	10	0.27082	T	0.32	.	0.3732	0.00383	0.2476:0.2579:0.2568:0.2378	.	417;429	Q9NVE5;Q9NVE5-3	UBP40_HUMAN;.	S	429;417;417	ENSP00000415434:A429S;ENSP00000251722:A417S;ENSP00000387898:A417S	ENSP00000251722:A417S	A	-	1	0	USP40	234107083	0.000000	0.05858	0.018000	0.16275	0.893000	0.52053	-0.008000	0.12788	-0.010000	0.14271	0.655000	0.94253	GCT		0.403	USP40-017	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000397235.1	XM_114294		6	25	1	0	3.59834e-05	0.001168	3.95073e-05	6	25				
UGT1A3	54659	broad.mit.edu	37	2	234637790	234637790	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr2:234637790G>T	ENST00000482026.1	+	1	37	c.18G>T	c.(16-18)caG>caT	p.Q6H	UGT1A6_ENST00000373424.1_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A5_ENST00000373414.3_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A4_ENST00000373409.3_Intron|UGT1A1_ENST00000608381.1_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A1_ENST00000609767.1_Missense_Mutation_p.Q6H|UGT1A6_ENST00000480628.1_Intron|UGT1A1_ENST00000373450.4_Intron|UGT1A1_ENST00000609637.1_Intron|UGT1A10_ENST00000344644.5_Intron			P35503	UD13_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A3	6			Q -> R (in dbSNP:rs28898617).		cellular glucuronidation (GO:0052695)|flavonoid glucuronidation (GO:0052696)|metabolic process (GO:0008152)|retinoic acid metabolic process (GO:0042573)|xenobiotic glucuronidation (GO:0052697)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	enzyme binding (GO:0019899)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|retinoic acid binding (GO:0001972)|UDP-glycosyltransferase activity (GO:0008194)			breast(2)|endometrium(7)|kidney(18)|large_intestine(6)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	46		Breast(86;0.000765)|all_lung(227;0.00266)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0456)|Lung SC(224;0.128)		Epithelial(121;2.4e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000476)|Lung(119;0.00243)|LUSC - Lung squamous cell carcinoma(224;0.00599)	Atorvastatin(DB01076)|Candesartan(DB00796)|Cyproheptadine(DB00434)|Eltrombopag(DB06210)|Etodolac(DB00749)|Ezetimibe(DB00973)|Ezogabine(DB04953)|Flunitrazepam(DB01544)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Ibuprofen(DB01050)|Irbesartan(DB01029)|Lamotrigine(DB00555)|Losartan(DB00678)|Lovastatin(DB00227)|Mitiglinide(DB01252)|Morphine(DB00295)|Pitavastatin(DB08860)|Simvastatin(DB00641)|Valproic Acid(DB00313)	CAGGACTCCAGGTTCCCCTGC	0.572											OREG0003835	type=REGULATORY REGION|Gene=UGT1A3|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																											uc002vuy.2		NA																	0				ovary(1)	1						c.(16-18)CAG>CAT		UDP glycosyltransferase 1 family, polypeptide A3							58.0	58.0	58.0					2																	234637790		2203	4300	6503	SO:0001583	missense	54659				flavonoid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	enzyme binding|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding	g.chr2:234637790G>T	M84127	CCDS2509.1	2q37	2010-03-05	2005-07-20		ENSG00000243135	ENSG00000243135		"""UDP glucuronosyltransferases"""	12535	other	complex locus constituent		606428	"""UDP glycosyltransferase 1 family, polypeptide A3"""			9295054, 1339448, 11434514	Standard	NM_019093		Approved	UGT1C		P35503	OTTHUMG00000059118	ENST00000482026.1:c.18G>T	2.37:g.234637790G>T	ENSP00000418532:p.Gln6His		OREG0003835	type=REGULATORY REGION|Gene=UGT1A3|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	2375	UGT1A8_uc010zmv.1_Intron|UGT1A8_uc002vup.2_Intron|UGT1A10_uc002vuq.3_Intron|UGT1A10_uc002vur.2_Intron|UGT1A9_uc010zmw.1_Intron|UGT1A9_uc002vus.2_Intron|UGT1A7_uc010zmx.1_Intron|UGT1A7_uc002vut.2_Intron|UGT1A6_uc002vuu.2_Intron|UGT1A6_uc010zmy.1_Intron|UGT1A6_uc002vuv.3_Intron|UGT1A5_uc010zmz.1_Intron|UGT1A5_uc002vuw.2_Intron|UGT1A4_uc010zna.1_Intron|UGT1A4_uc002vux.2_Intron|UGT1A3_uc010znb.1_Missense_Mutation_p.Q6H	p.Q6H	NM_019093	NP_061966	P35503	UD13_HUMAN		Epithelial(121;2.4e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000476)|Lung(119;0.00243)|LUSC - Lung squamous cell carcinoma(224;0.00599)	1	18	+		Breast(86;0.000765)|all_lung(227;0.00266)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0456)|Lung SC(224;0.128)	6					B8K287	Missense_Mutation	SNP	ENST00000482026.1	37	c.18G>T	CCDS2509.1	.	.	.	.	.	.	.	.	.	.	G	10.41	1.342875	0.24339	.	.	ENSG00000243135	ENST00000482026	T	0.59502	0.26	3.94	-2.11	0.07187	.	.	.	.	.	T	0.47488	0.1448	M	0.62723	1.935	0.09310	N	1	P;P	0.39131	0.661;0.661	B;B	0.40534	0.332;0.332	T	0.39396	-0.9616	9	0.35671	T	0.21	.	1.6309	0.02732	0.1496:0.1861:0.2751:0.3892	.	6;6	Q5DT01;P35503	.;UD13_HUMAN	H	6	ENSP00000418532:Q6H	ENSP00000418532:Q6H	Q	+	3	2	UGT1A3	234302529	0.000000	0.05858	0.000000	0.03702	0.167000	0.22549	-0.786000	0.04623	-0.299000	0.08909	0.585000	0.79938	CAG		0.572	UGT1A3-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000130983.1	NM_019093		12	82	1	0	0.000151284	0.001855	0.000164489	12	82				
UGT1A6	54578	broad.mit.edu	37	2	234652454	234652454	+	Intron	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr2:234652454C>A	ENST00000305139.6	+	2	1000				UGT1A6_ENST00000373424.1_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A5_ENST00000373414.3_Intron|UGT1A3_ENST00000482026.1_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A4_ENST00000373409.3_Intron|DNAJB3_ENST00000449667.1_RNA|UGT1A1_ENST00000608381.1_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A1_ENST00000609767.1_Intron|UGT1A6_ENST00000480628.1_Intron|UGT1A1_ENST00000373450.4_Intron|UGT1A1_ENST00000609637.1_Intron|UGT1A10_ENST00000344644.5_Intron	NM_001072.3	NP_001063.2	P19224	UD16_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A6						cellular glucuronidation (GO:0052695)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	enzyme binding (GO:0019899)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	22		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)		Epithelial(121;5.86e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000384)|Lung(119;0.00306)|LUSC - Lung squamous cell carcinoma(224;0.00702)	Acetaminophen(DB00316)|Deferiprone(DB08826)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Valproic Acid(DB00313)	TCCTTGTTCTCAGGGTTTTTG	0.597																																							uc002vuz.2		NA																	0					0						c.(109-111)GAG>TAG		DnaJ (Hsp40) homolog, subfamily B, member 3							112.0	126.0	122.0					2																	234652454		2126	4249	6375	SO:0001627	intron_variant	414061				protein folding		heat shock protein binding|unfolded protein binding	g.chr2:234652454C>A	M84130	CCDS2507.1, CCDS2508.1	2q37	2010-03-05	2005-07-20		ENSG00000167165	ENSG00000167165		"""UDP glucuronosyltransferases"""	12538	other	complex locus constituent		606431	"""UDP glycosyltransferase 1 family, polypeptide A6"""			9295054, 1339448	Standard	NM_001072		Approved	HLUGP, GNT1, UGT1F		P19224	OTTHUMG00000059122	ENST00000305139.6:c.862-23226C>A	2.37:g.234652454C>A						UGT1A8_uc010zmv.1_Intron|UGT1A8_uc002vup.2_Intron|UGT1A10_uc002vuq.3_Intron|UGT1A10_uc002vur.2_Intron|UGT1A9_uc010zmw.1_Intron|UGT1A9_uc002vus.2_Intron|UGT1A7_uc010zmx.1_Intron|UGT1A7_uc002vut.2_Intron|UGT1A6_uc002vuu.2_Intron|UGT1A6_uc010zmy.1_Intron|UGT1A6_uc002vuv.3_Intron|UGT1A5_uc010zmz.1_Intron|UGT1A5_uc002vuw.2_Intron|UGT1A4_uc010zna.1_Intron|UGT1A4_uc002vux.2_Intron|UGT1A3_uc010znb.1_Intron|UGT1A3_uc002vuy.2_Intron	p.E37*	NM_001001394	NP_001001394	Q8WWF6	DNJB3_HUMAN			1	208	-			37			J.		A6NKK6|B8K289|Q96TE7	Nonsense_Mutation	SNP	ENST00000305139.6	37	c.109G>T	CCDS2507.1																																																																																				0.597	UGT1A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130988.1	NM_205862		25	122	1	0	1.80694e-10	0.009535	2.2481e-10	25	122				
COL6A3	1293	broad.mit.edu	37	2	238270446	238270446	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr2:238270446C>A	ENST00000295550.4	-	15	6544	c.6092G>T	c.(6091-6093)gGg>gTg	p.G2031V	COL6A3_ENST00000353578.4_Missense_Mutation_p.G1825V|COL6A3_ENST00000409809.1_Missense_Mutation_p.G1825V|COL6A3_ENST00000472056.1_Missense_Mutation_p.G1424V|COL6A3_ENST00000346358.4_Missense_Mutation_p.G1831V|COL6A3_ENST00000347401.3_Missense_Mutation_p.G1830V	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	2031	Nonhelical region.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		GCAGGGAACCCCACAGCAAGC	0.537																																							uc002vwl.2		NA																	0				ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	18						c.(6091-6093)GGG>GTG		alpha 3 type VI collagen isoform 1 precursor							80.0	83.0	82.0					2																	238270446		2203	4300	6503	SO:0001583	missense	1293				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	g.chr2:238270446C>A	X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"""Collagens"""	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.6092G>T	2.37:g.238270446C>A	ENSP00000295550:p.Gly2031Val					COL6A3_uc002vwo.2_Missense_Mutation_p.G1825V|COL6A3_uc010znj.1_Missense_Mutation_p.G1424V	p.G2031V	NM_004369	NP_004360	P12111	CO6A3_HUMAN		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)	15	6377	-		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)	2031			Nonhelical region.		A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Missense_Mutation	SNP	ENST00000295550.4	37	c.6092G>T	CCDS33412.1	.	.	.	.	.	.	.	.	.	.	C	11.21	1.572103	0.28092	.	.	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000353578;ENST00000472056;ENST00000409809;ENST00000346358	D;D;D;D;D;D	0.89050	-2.46;-2.44;-2.41;-2.39;-2.41;-2.41	5.38	5.38	0.77491	.	0.000000	0.53938	D	0.000055	D	0.91747	0.7390	L	0.50333	1.59	0.50313	D	0.999866	D;D;D	0.89917	1.0;1.0;0.988	D;D;P	0.85130	0.995;0.997;0.601	D	0.91457	0.5186	10	0.56958	D	0.05	.	10.6803	0.45811	0.0:0.8527:0.0:0.1473	.	1424;1825;2031	E9PFQ6;P12111-2;P12111	.;.;CO6A3_HUMAN	V	2031;1830;1825;1424;1825;1831	ENSP00000295550:G2031V;ENSP00000315609:G1830V;ENSP00000315873:G1825V;ENSP00000418285:G1424V;ENSP00000386844:G1825V;ENSP00000295546:G1831V	ENSP00000295550:G2031V	G	-	2	0	COL6A3	237935185	0.003000	0.15002	0.999000	0.59377	0.990000	0.78478	0.982000	0.29539	2.513000	0.84729	0.650000	0.86243	GGG		0.537	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369		31	55	1	0	6.97489e-18	0.004878	9.77453e-18	31	55				
COL6A3	1293	broad.mit.edu	37	2	238275874	238275874	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr2:238275874C>A	ENST00000295550.4	-	11	5408	c.4956G>T	c.(4954-4956)agG>agT	p.R1652S	COL6A3_ENST00000353578.4_Missense_Mutation_p.R1446S|COL6A3_ENST00000409809.1_Missense_Mutation_p.R1446S|COL6A3_ENST00000472056.1_Missense_Mutation_p.R1045S|COL6A3_ENST00000346358.4_Missense_Mutation_p.R1452S|COL6A3_ENST00000347401.3_Missense_Mutation_p.R1451S	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1652	Nonhelical region.|VWFA 9. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		GGAAACTGTCCCTCCTGAAGT	0.433																																							uc002vwl.2		NA																	0				ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	18						c.(4954-4956)AGG>AGT		alpha 3 type VI collagen isoform 1 precursor							75.0	65.0	69.0					2																	238275874		2203	4300	6503	SO:0001583	missense	1293				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	g.chr2:238275874C>A	X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"""Collagens"""	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.4956G>T	2.37:g.238275874C>A	ENSP00000295550:p.Arg1652Ser					COL6A3_uc002vwo.2_Missense_Mutation_p.R1446S|COL6A3_uc010znj.1_Missense_Mutation_p.R1045S	p.R1652S	NM_004369	NP_004360	P12111	CO6A3_HUMAN		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)	11	5241	-		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)	1652			VWFA 9.|Nonhelical region.		A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Missense_Mutation	SNP	ENST00000295550.4	37	c.4956G>T	CCDS33412.1	.	.	.	.	.	.	.	.	.	.	C	12.35	1.911579	0.33721	.	.	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000353578;ENST00000472056;ENST00000409809;ENST00000346358	D;D;D;D;D;D	0.82803	-1.65;-1.65;-1.65;-1.65;-1.65;-1.65	5.5	1.67	0.24075	von Willebrand factor, type A (3);	0.000000	0.64402	D	0.000010	T	0.82038	0.4950	L	0.42686	1.345	0.48571	D	0.999677	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.91635	0.999;0.999;0.985	T	0.76735	-0.2850	10	0.15499	T	0.54	.	3.2106	0.06681	0.1857:0.4386:0.0:0.3757	.	1045;1446;1652	E9PFQ6;P12111-2;P12111	.;.;CO6A3_HUMAN	S	1652;1451;1446;1045;1446;1452	ENSP00000295550:R1652S;ENSP00000315609:R1451S;ENSP00000315873:R1446S;ENSP00000418285:R1045S;ENSP00000386844:R1446S;ENSP00000295546:R1452S	ENSP00000295550:R1652S	R	-	3	2	COL6A3	237940613	0.029000	0.19370	1.000000	0.80357	0.695000	0.40330	-0.084000	0.11268	0.687000	0.31509	-0.152000	0.13540	AGG		0.433	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369		14	19	1	0	1.15088e-07	0.004007	1.33475e-07	14	19				
KLHL30	377007	broad.mit.edu	37	2	239057733	239057733	+	Silent	SNP	C	C	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr2:239057733C>T	ENST00000409223.1	+	7	1532	c.1425C>T	c.(1423-1425)ctC>ctT	p.L475L	KLHL30_ENST00000305959.4_Silent_p.L457L			Q0D2K2	KLH30_HUMAN	kelch-like family member 30	475										lung(4)	4		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)		AGCTCTACCTCATTGGGGACA	0.657																																							uc002vxr.1		NA																	0					0						c.(1369-1371)CTC>CTT		kelch-like 30							80.0	92.0	88.0					2																	239057733		2139	4235	6374	SO:0001819	synonymous_variant	377007							g.chr2:239057733C>T		CCDS46555.1, CCDS46555.2	2q37.3	2013-02-22	2013-02-22		ENSG00000168427	ENSG00000168427		"""Kelch-like"", ""BTB/POZ domain containing"""	24770	protein-coding gene	gene with protein product			"""kelch-like 30 (Drosophila)"""				Standard	NM_198582		Approved	FLJ43374	uc002vxr.2	Q0D2K2	OTTHUMG00000152905	ENST00000409223.1:c.1425C>T	2.37:g.239057733C>T							p.L457L	NM_198582	NP_940984	Q0D2K2	KLH30_HUMAN		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)	6	1404	+		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)	475			Kelch 5.		Q6ZUS1	Silent	SNP	ENST00000409223.1	37	c.1371C>T	CCDS46555.2																																																																																				0.657	KLHL30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328518.1	NM_198582		6	26	0	0	0	0.001984	0	6	26				
SOX12	6666	broad.mit.edu	37	20	307448	307448	+	Missense_Mutation	SNP	G	G	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr20:307448G>A	ENST00000342665.2	+	1	1210	c.880G>A	c.(880-882)Gag>Aag	p.E294K	RP5-1103G7.4_ENST00000414676.1_RNA|SOX12_ENST00000544632.1_Missense_Mutation_p.E294K|RP5-1103G7.4_ENST00000442637.1_RNA	NM_006943.2	NP_008874.2	O15370	SOX12_HUMAN	SRY (sex determining region Y)-box 12	294					cell fate commitment (GO:0045165)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein-DNA complex assembly (GO:0065004)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spinal cord development (GO:0021510)	nucleus (GO:0005634)|protein-DNA complex (GO:0032993)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)	2		all_cancers(10;0.000331)|Lung NSC(37;0.0496)|all_lung(30;0.0831)|all_epithelial(17;0.0868)|Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.149)			CTGCACCCCCGAGGTTACCGA	0.697																																							uc002wdh.2		NA																	0					0						c.(880-882)GAG>AAG		SRY (sex determining region Y)-box 12							27.0	32.0	30.0					20																	307448		2203	4300	6503	SO:0001583	missense	6666				cell fate commitment|spinal cord development	nucleus	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|RNA polymerase II transcription coactivator activity|transcription regulatory region sequence-specific DNA binding	g.chr20:307448G>A	U35612	CCDS12995.1	20p13	2008-07-28	2002-07-22	2002-07-26	ENSG00000177732	ENSG00000177732		"""SRY (sex determining region Y)-boxes"""	11198	protein-coding gene	gene with protein product		601947	"""SRY (sex determining region Y)-box 22"""	SOX22		9215677	Standard	NM_006943		Approved		uc002wdh.4	O15370	OTTHUMG00000031623	ENST00000342665.2:c.880G>A	20.37:g.307448G>A	ENSP00000347646:p.Glu294Lys						p.E294K	NM_006943	NP_008874	O15370	SOX12_HUMAN	OV - Ovarian serous cystadenocarcinoma(29;0.149)		1	1210	+		all_cancers(10;0.000331)|Lung NSC(37;0.0496)|all_lung(30;0.0831)|all_epithelial(17;0.0868)|Breast(17;0.231)	294					Q5D038|Q9NUD4	Missense_Mutation	SNP	ENST00000342665.2	37	c.880G>A	CCDS12995.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.015419	0.75161	.	.	ENSG00000177732	ENST00000544632;ENST00000342665	D;D	0.99685	-6.4;-6.4	3.87	3.87	0.44632	.	0.000000	0.50627	U	0.000109	D	0.99539	0.9835	M	0.66297	2.02	0.47862	D	0.999533	D	0.89917	1.0	D	0.79108	0.992	D	0.97772	1.0227	10	0.72032	D	0.01	.	14.5377	0.67973	0.0:0.0:1.0:0.0	.	294	O15370	SOX12_HUMAN	K	294	ENSP00000441671:E294K;ENSP00000347646:E294K	ENSP00000347646:E294K	E	+	1	0	SOX12	255448	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	9.486000	0.97944	1.986000	0.57962	0.305000	0.20034	GAG		0.697	SOX12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077435.2	NM_006943		11	55	0	0	0	0.00245	0	11	55				
ZNF343	79175	broad.mit.edu	37	20	2463909	2463909	+	Silent	SNP	G	G	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr20:2463909G>A	ENST00000278772.4	-	6	2185	c.1698C>T	c.(1696-1698)gtC>gtT	p.V566V	RP4-734P14.4_ENST00000461548.1_Intron	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	566					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						TCCTCTGGTGGACAAGGAGGA	0.507																																							uc002wge.1		NA																	0				upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	3						c.(1696-1698)GTC>GTT		zinc finger protein 343							102.0	87.0	92.0					20																	2463909		2203	4300	6503	SO:0001819	synonymous_variant	79175				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:2463909G>A	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.1698C>T	20.37:g.2463909G>A						ZNF343_uc010gao.1_Silent_p.V566V|ZNF343_uc002wgd.1_Silent_p.V476V	p.V566V	NM_024325	NP_077301	Q6P1L6	ZN343_HUMAN			6	2186	-			566			C2H2-type 11.		Q5JXU8|Q5JXU9|Q8N8F2|Q96EX8|Q96NA5|Q9BQB0	Silent	SNP	ENST00000278772.4	37	c.1698C>T	CCDS13028.1																																																																																				0.507	ZNF343-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077617.1	NM_024325		6	79	0	0	0	0.001168	0	6	79				
ADAM33	80332	broad.mit.edu	37	20	3653514	3653515	+	Nonsense_Mutation	DNP	TG	TG	CT			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	TG	TG	-	-	TG	TG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr20:3653514_3653515TG>CT	ENST00000356518.2	-	12	1405_1406	c.1164_1165CA>AG	c.(1162-1167)tgCAgc>tgAGgc	p.388_389CS>*G	ADAM33_ENST00000466620.1_5'UTR|ADAM33_ENST00000350009.2_Nonsense_Mutation_p.388_389CS>*G|ADAM33_ENST00000379861.4_Nonsense_Mutation_p.388_389CS>*G	NM_025220.2	NP_079496.1	Q9BZ11	ADA33_HUMAN	ADAM metallopeptidase domain 33	388	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				proteolysis (GO:0006508)	integral component of membrane (GO:0016021)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|skin(3)	29						TGGCGGCGGCTGCAGGCGCTGA	0.728																																							uc002wit.2		NA																	0				large_intestine(2)|ovary(1)|skin(1)	4						c.(1162-1167)TGCAGC>TGAGGC		ADAM metallopeptidase domain 33 isoform alpha																																				SO:0001587	stop_gained	80332				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding	g.chr20:3653514_3653515TG>CT	AL117415, AB055891	CCDS13058.1, CCDS63219.1	20p13	2010-04-06	2005-08-18		ENSG00000149451	ENSG00000149451		"""ADAM metallopeptidase domain containing"""	15478	protein-coding gene	gene with protein product		607114	"""a disintegrin and metalloproteinase domain 33"", ""chromosome 20 open reading frame 153"""	C20orf153		11814695	Standard	XM_005260843		Approved	DKFZp434K0521, dJ964F7.1	uc002wit.3	Q9BZ11	OTTHUMG00000031758	ENST00000356518.2:c.1164_1165delinsCT	20.37:g.3653514_3653515delinsCT	ENSP00000348912:p.C388_S389delins*G					ADAM33_uc002wiq.1_5'Flank|ADAM33_uc002wir.1_Nonsense_Mutation_p.388_389CS>*G|ADAM33_uc002wis.2_5'UTR|ADAM33_uc002wiu.2_Nonsense_Mutation_p.388_389CS>*G|uc002wiv.1_5'Flank|ADAM33_uc002wiw.1_Intron|ADAM33_uc010gba.1_Intron|ADAM33_uc010gbb.1_Intron|ADAM33_uc002wix.1_Intron|ADAM33_uc010zqg.1_3'UTR|ADAM33_uc010zqh.1_3'UTR	p.388_389CS>*G	NM_025220	NP_079496	Q9BZ11	ADA33_HUMAN			12	1251_1252	-			388_389			Extracellular (Potential).|Peptidase M12B.		A0A1K6|Q5JT75|Q5JT76|Q8N0W6	Nonsense_Mutation	DNP	ENST00000356518.2	37	c.1164_1165CA>AG	CCDS13058.1																																																																																				0.728	ADAM33-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000077763.2	NM_025220		21	9	0	0	0	0.004672	0	21	9				
CDS2	8760	broad.mit.edu	37	20	5167438	5167438	+	Silent	SNP	C	C	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr20:5167438C>T	ENST00000460006.1	+	10	1241	c.934C>T	c.(934-936)Ctg>Ttg	p.L312L	CDS2_ENST00000379070.3_3'UTR|CDS2_ENST00000535100.1_Intron|CDS2_ENST00000379062.4_Silent_p.L192L	NM_003818.3	NP_003809.1	O95674	CDS2_HUMAN	CDP-diacylglycerol synthase (phosphatidate cytidylyltransferase) 2	312					CDP-diacylglycerol biosynthetic process (GO:0016024)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)	phosphatidate cytidylyltransferase activity (GO:0004605)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|stomach(1)	14						CCTGTTTCGCCTGCAGGAGTA	0.547																																							uc002wls.2		NA																	0					0						c.(934-936)CTG>TTG		phosphatidate cytidylyltransferase 2							181.0	146.0	158.0					20																	5167438		2203	4300	6503	SO:0001819	synonymous_variant	8760				phospholipid biosynthetic process	integral to membrane|mitochondrial inner membrane	phosphatidate cytidylyltransferase activity	g.chr20:5167438C>T	AF069532	CCDS13088.1	20p13	2006-03-28			ENSG00000101290	ENSG00000101290	2.7.7.41		1801	protein-coding gene	gene with protein product		603549				9806839, 9889000	Standard	NM_003818		Approved		uc002wls.3	O95674	OTTHUMG00000031801	ENST00000460006.1:c.934C>T	20.37:g.5167438C>T						CDS2_uc002wlr.1_Silent_p.L234L|CDS2_uc010zqt.1_RNA|CDS2_uc002wlu.2_Silent_p.L257L|CDS2_uc010zqu.1_Silent_p.L192L|CDS2_uc002wlv.2_Silent_p.L214L|CDS2_uc010zqv.1_Intron	p.L312L	NM_003818	NP_003809	O95674	CDS2_HUMAN			10	1191	+			312					B2RDC6|D3DW04|Q5TDY2|Q5TDY3|Q5TDY4|Q5TDY5|Q9BYK5|Q9NTT2	Silent	SNP	ENST00000460006.1	37	c.934C>T	CCDS13088.1																																																																																				0.547	CDS2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077858.2			139	44	0	0	0	0.00361	0	139	44				
PLCB1	23236	broad.mit.edu	37	20	8609011	8609011	+	Missense_Mutation	SNP	T	T	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr20:8609011T>A	ENST00000338037.6	+	4	344	c.317T>A	c.(316-318)gTg>gAg	p.V106E	PLCB1_ENST00000378641.3_Missense_Mutation_p.V106E|PLCB1_ENST00000378637.2_Missense_Mutation_p.V106E	NM_015192.2	NP_056007.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	106					activation of meiosis involved in egg activation (GO:0060466)|cerebral cortex development (GO:0021987)|fat cell differentiation (GO:0045444)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G2/M transition of mitotic cell cycle (GO:0000086)|glutamate receptor signaling pathway (GO:0007215)|inositol phosphate metabolic process (GO:0043647)|insulin-like growth factor receptor signaling pathway (GO:0048009)|interleukin-1-mediated signaling pathway (GO:0070498)|interleukin-12-mediated signaling pathway (GO:0035722)|interleukin-15-mediated signaling pathway (GO:0035723)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|memory (GO:0007613)|negative regulation of monocyte extravasation (GO:2000438)|negative regulation of transcription, DNA-templated (GO:0045892)|phosphatidylinositol metabolic process (GO:0046488)|positive regulation of acrosome reaction (GO:2000344)|positive regulation of CD24 biosynthetic process (GO:2000560)|positive regulation of developmental growth (GO:0048639)|positive regulation of embryonic development (GO:0040019)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of GTPase activity (GO:0043547)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of JNK cascade (GO:0046330)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fertilization (GO:0080154)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|phosphatidylinositol phospholipase C activity (GO:0004435)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein homodimerization activity (GO:0042803)|signal transducer activity (GO:0004871)			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						ATCACAGTGGTGTATGGGCCT	0.458																																							uc002wnb.2		NA																	0				ovary(4)|breast(3)|upper_aerodigestive_tract(2)|skin(2)|lung(1)	12						c.(316-318)GTG>GAG		phosphoinositide-specific phospholipase C beta 1							140.0	125.0	130.0					20																	8609011		2203	4300	6503	SO:0001583	missense	23236				activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity	g.chr20:8609011T>A	AB011153	CCDS13102.1, CCDS13103.1	20p12	2008-03-18			ENSG00000182621	ENSG00000182621	3.1.4.11		15917	protein-coding gene	gene with protein product		607120				10760467, 11118617	Standard	NM_015192		Approved	KIAA0581, PLC-I, PLC154	uc002wnb.4	Q9NQ66	OTTHUMG00000031849	ENST00000338037.6:c.317T>A	20.37:g.8609011T>A	ENSP00000338185:p.Val106Glu					PLCB1_uc010zrb.1_Missense_Mutation_p.V5E|PLCB1_uc010gbv.1_Missense_Mutation_p.V106E|PLCB1_uc002wmz.1_Missense_Mutation_p.V106E|PLCB1_uc002wna.2_Missense_Mutation_p.V106E|PLCB1_uc002wnc.1_Missense_Mutation_p.V5E	p.V106E	NM_015192	NP_056007	Q9NQ66	PLCB1_HUMAN			4	320	+			106					D3DW12|D3DW13|O60325|Q17RQ6|Q5TFF7|Q5TGC9|Q8IV93|Q9BQW2|Q9H4H2|Q9H8H5|Q9NQ65|Q9NQH9|Q9NTH4|Q9UJP6|Q9UM26	Missense_Mutation	SNP	ENST00000338037.6	37	c.317T>A	CCDS13102.1	.	.	.	.	.	.	.	.	.	.	T	23.1	4.370877	0.82573	.	.	ENSG00000182621	ENST00000378641;ENST00000338037;ENST00000378637;ENST00000404098;ENST00000441163;ENST00000535719	T;T;T;T	0.56941	0.43;0.43;0.43;0.43	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.76054	0.3934	M	0.86178	2.8	0.58432	D	0.999998	D;D;D;D	0.89917	1.0;0.994;1.0;1.0	D;P;D;D	0.91635	0.989;0.827;0.999;0.996	T	0.79962	-0.1582	10	0.87932	D	0	.	15.8048	0.78491	0.0:0.0:0.0:1.0	.	5;106;106;105	B4DRC6;Q9NQ66;Q9NQ66-2;B1AK73	.;PLCB1_HUMAN;.;.	E	106;106;106;105;26;26	ENSP00000367908:V106E;ENSP00000338185:V106E;ENSP00000367904:V106E;ENSP00000384001:V105E	ENSP00000338185:V106E	V	+	2	0	PLCB1	8557011	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	6.388000	0.73195	2.371000	0.80710	0.533000	0.62120	GTG		0.458	PLCB1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077938.3			15	109	0	0	0	0.004007	0	15	109				
CFAP61	26074	broad.mit.edu	37	20	20037345	20037345	+	Nonsense_Mutation	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr20:20037345C>A	ENST00000245957.5	+	2	124	c.48C>A	c.(46-48)tgC>tgA	p.C16*	C20orf26_ENST00000377306.1_Nonsense_Mutation_p.C16*|C20orf26_ENST00000377309.2_5'UTR|C20orf26_ENST00000389656.3_5'UTR|C20orf26_ENST00000451767.2_Nonsense_Mutation_p.C16*|CRNKL1_ENST00000377340.2_5'Flank|CRNKL1_ENST00000377327.4_5'Flank	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN		16										NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		TTGTTCATTGCCGAAGAACAG	0.353																																							uc002wru.2		NA																	0				ovary(3)|pancreas(1)	4						c.(46-48)TGC>TGA		hypothetical protein LOC26074							123.0	129.0	127.0					20																	20037345		2203	4300	6503	SO:0001587	stop_gained	26074							g.chr20:20037345C>A																												ENST00000245957.5:c.48C>A	20.37:g.20037345C>A	ENSP00000245957:p.Cys16*					C20orf26_uc010gcw.1_Intron|C20orf26_uc010zse.1_Nonsense_Mutation_p.C16*|C20orf26_uc010zsf.1_Nonsense_Mutation_p.C16*|CRNKL1_uc002wrs.2_5'Flank|CRNKL1_uc002wrt.1_5'Flank	p.C16*	NM_015585	NP_056400	Q8NHU2	CT026_HUMAN		READ - Rectum adenocarcinoma(2;0.171)	2	124	+			16					A6NHA1|Q5JXV4|Q5TE18|Q8N5R9|Q96M59|Q9BQL2|Q9H127|Q9H128|Q9NQH4|Q9UFV8|Q9Y4V7	Nonsense_Mutation	SNP	ENST00000245957.5	37	c.48C>A	CCDS33447.1	.	.	.	.	.	.	.	.	.	.	C	37	6.032145	0.97221	.	.	ENSG00000089101	ENST00000343997;ENST00000389655;ENST00000245957;ENST00000377306;ENST00000377303;ENST00000475466;ENST00000451767	.	.	.	5.86	5.86	0.93980	.	0.346054	0.31922	N	0.006848	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07482	T	0.82	.	13.7319	0.62792	0.0:0.9298:0.0:0.0702	.	.	.	.	X	16	.	ENSP00000245957:C16X	C	+	3	2	C20orf26	19985345	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	1.706000	0.37878	2.937000	0.99478	0.650000	0.86243	TGC		0.353	C20orf26-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078228.3			64	20	1	0	3.98521e-19	0.00361	5.64758e-19	64	20				
CFAP61	26074	broad.mit.edu	37	20	20279030	20279030	+	Splice_Site	SNP	G	G	C			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr20:20279030G>C	ENST00000245957.5	+	25	3498	c.3422G>C	c.(3421-3423)aGc>aCc	p.S1141T	C20orf26_ENST00000377309.2_3'UTR	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN		1141										NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		GATCTCTATAGGTGAGTTGGA	0.463																																							uc002wru.2		NA																	0				ovary(3)|pancreas(1)	4						c.(3421-3423)AGC>ACC		hypothetical protein LOC26074							55.0	50.0	52.0					20																	20279030		2203	4300	6503	SO:0001630	splice_region_variant	26074							g.chr20:20279030G>C																												ENST00000245957.5:c.3422+1G>C	20.37:g.20279030G>C						C20orf26_uc002wrw.2_RNA	p.S1141T	NM_015585	NP_056400	Q8NHU2	CT026_HUMAN		READ - Rectum adenocarcinoma(2;0.171)	25	3498	+			1141					A6NHA1|Q5JXV4|Q5TE18|Q8N5R9|Q96M59|Q9BQL2|Q9H127|Q9H128|Q9NQH4|Q9UFV8|Q9Y4V7	Missense_Mutation	SNP	ENST00000245957.5	37	c.3422G>C	CCDS33447.1	.	.	.	.	.	.	.	.	.	.	G	16.16	3.043546	0.55003	.	.	ENSG00000089101	ENST00000343997;ENST00000389655;ENST00000245957	T	0.10668	2.85	5.61	5.61	0.85477	.	0.050232	0.85682	D	0.000000	T	0.25827	0.0629	M	0.68952	2.095	0.80722	D	1	D	0.60160	0.987	P	0.52758	0.708	T	0.00253	-1.1875	10	0.44086	T	0.13	.	19.6257	0.95677	0.0:0.0:1.0:0.0	.	1141	Q8NHU2	CT026_HUMAN	T	1081;1107;1141	ENSP00000245957:S1141T	ENSP00000245957:S1141T	S	+	2	0	C20orf26	20227030	1.000000	0.71417	0.999000	0.59377	0.128000	0.20619	7.758000	0.85224	2.651000	0.90000	0.655000	0.94253	AGC		0.463	C20orf26-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078228.3		Missense_Mutation	38	10	0	0	0	0.00623	0	38	10				
SSTR4	6754	broad.mit.edu	37	20	23016324	23016324	+	Silent	SNP	C	C	G			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr20:23016324C>G	ENST00000255008.3	+	1	268	c.204C>G	c.(202-204)gtC>gtG	p.V68V	RP4-753D10.3_ENST00000440921.1_RNA	NM_001052.2	NP_001043.2	P31391	SSR4_HUMAN	somatostatin receptor 4	68					arachidonic acid metabolic process (GO:0019369)|cell migration (GO:0016477)|cellular response to glucocorticoid stimulus (GO:0071385)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|negative regulation of cAMP metabolic process (GO:0030815)|negative regulation of cell proliferation (GO:0008285)|positive regulation of MAPK cascade (GO:0043410)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	somatostatin receptor activity (GO:0004994)			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	32	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)					ACGCCCTGGTCATCTTCGTGA	0.657																																					Esophageal Squamous(15;850 1104 16640)	Esophageal Squamous(15;850 1104 16640)	uc002wsr.2		NA																	0				ovary(1)	1						c.(202-204)GTC>GTG		somatostatin receptor 4							108.0	118.0	115.0					20																	23016324		2203	4300	6503	SO:0001819	synonymous_variant	6754				G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity	g.chr20:23016324C>G		CCDS42856.1	20p11.21	2014-07-11			ENSG00000132671	ENSG00000132671		"""GPCR / Class A : Somatostatin receptors"""	11333	protein-coding gene	gene with protein product		182454				8483934	Standard	NM_001052		Approved		uc002wsr.2	P31391	OTTHUMG00000032054	ENST00000255008.3:c.204C>G	20.37:g.23016324C>G							p.V68V	NM_001052	NP_001043	P31391	SSR4_HUMAN			1	268	+	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)		68			Helical; Name=1; (Potential).		Q17RM1|Q17RM3|Q9UIY1	Silent	SNP	ENST00000255008.3	37	c.204C>G	CCDS42856.1																																																																																				0.657	SSTR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078308.1			31	183	0	0	0	0.005524	0	31	183				
ZNF341	84905	broad.mit.edu	37	20	32328721	32328721	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr20:32328721G>T	ENST00000375200.1	+	2	410	c.45G>T	c.(43-45)caG>caT	p.Q15H	ZNF341_ENST00000342427.2_Missense_Mutation_p.Q15H	NM_001282933.1	NP_001269862.1	Q9BYN7	ZN341_HUMAN	zinc finger protein 341	15					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	31						TGGACAATCAGACCGTTCTGG	0.542																																							uc002wzy.2		NA																	0				ovary(2)	2						c.(43-45)CAG>CAT		zinc finger protein 341							103.0	86.0	92.0					20																	32328721		2203	4300	6503	SO:0001583	missense	84905				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:32328721G>T	AK027550	CCDS13227.1, CCDS74719.1	20q11.22	2013-01-08			ENSG00000131061	ENSG00000131061		"""Zinc fingers, C2H2-type"""	15992	protein-coding gene	gene with protein product							Standard	NM_001282933		Approved	dJ553F4.3	uc002wzx.3	Q9BYN7	OTTHUMG00000032275	ENST00000375200.1:c.45G>T	20.37:g.32328721G>T	ENSP00000364346:p.Gln15His					ZNF341_uc002wzx.2_Missense_Mutation_p.Q15H|ZNF341_uc010geq.2_5'UTR|ZNF341_uc010ger.2_RNA	p.Q15H	NM_032819	NP_116208	Q9BYN7	ZN341_HUMAN			2	65	+			15					A2RUF4|B2RXE5|B7ZM09|Q5JXM8|Q96ST5	Missense_Mutation	SNP	ENST00000375200.1	37	c.45G>T		.	.	.	.	.	.	.	.	.	.	G	16.53	3.147707	0.57151	.	.	ENSG00000131061	ENST00000342427;ENST00000375200	T;T	0.12569	2.92;2.67	5.27	4.31	0.51392	.	0.000000	0.85682	D	0.000000	T	0.24122	0.0584	L	0.34521	1.04	0.53005	D	0.999961	D;D	0.76494	0.998;0.999	D;D	0.85130	0.993;0.997	T	0.01405	-1.1363	10	0.87932	D	0	-19.7076	9.4834	0.38915	0.1758:0.0:0.8242:0.0	.	15;15	Q9BYN7;Q9BYN7-2	ZN341_HUMAN;.	H	15	ENSP00000344308:Q15H;ENSP00000364346:Q15H	ENSP00000344308:Q15H	Q	+	3	2	ZNF341	31792382	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.277000	0.72608	1.343000	0.45638	0.591000	0.81541	CAG		0.542	ZNF341-201	KNOWN	basic	protein_coding	protein_coding				10	86	1	0	0.000673444	0.008291	0.000717534	10	86				
DSN1	79980	broad.mit.edu	37	20	35386512	35386512	+	Nonsense_Mutation	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr20:35386512C>A	ENST00000426836.1	-	8	1075	c.703G>T	c.(703-705)Gag>Tag	p.E235*	DSN1_ENST00000373740.3_Nonsense_Mutation_p.E163*|DSN1_ENST00000373734.4_Nonsense_Mutation_p.E128*|DSN1_ENST00000373745.3_Nonsense_Mutation_p.E235*|DSN1_ENST00000373750.4_Nonsense_Mutation_p.E235*|DSN1_ENST00000448110.2_Nonsense_Mutation_p.E219*|DSN1_ENST00000473615.1_5'UTR	NM_001145316.1	NP_001138788.1	Q9H410	DSN1_HUMAN	DSN1, MIS12 kinetochore complex component	235					chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	cytosol (GO:0005829)|MIS12/MIND type complex (GO:0000444)|nucleus (GO:0005634)		p.E235*(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	16		Myeloproliferative disorder(115;0.00874)				TCTTTAGCCTCCTGCTGGTAG	0.338																																							uc010gfr.2		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(2)	2						c.(703-705)GAG>TAG		DSN1, MIND kinetochore complex component,							45.0	44.0	44.0					20																	35386512		2203	4300	6503	SO:0001587	stop_gained	79980				cell division|chromosome segregation|mitotic prometaphase	cytosol|MIS12/MIND type complex|nucleus	protein binding	g.chr20:35386512C>A	AK023408	CCDS13286.1, CCDS46596.1, CCDS46597.1	20q11.23	2013-07-03	2013-07-03	2006-11-07	ENSG00000149636	ENSG00000149636			16165	protein-coding gene	gene with protein product	"""kinetochore null 3 homolog (C. elegans)"""	609175	"""chromosome 20 open reading frame 172"", ""DSN1, MIND kinetochore complex component, homolog (S. cerevisiae)"""	C20orf172		16585270, 20819937	Standard	NM_001145315		Approved	dJ469A13.2, MIS13, KNL3, hKNL-3	uc002xfz.3	Q9H410	OTTHUMG00000032396	ENST00000426836.1:c.703G>T	20.37:g.35386512C>A	ENSP00000389810:p.Glu235*					DSN1_uc002xfz.2_Nonsense_Mutation_p.E235*|DSN1_uc002xfy.3_Nonsense_Mutation_p.E25*|DSN1_uc002xga.2_Nonsense_Mutation_p.E235*|DSN1_uc010zvs.1_Nonsense_Mutation_p.E128*|DSN1_uc002xgc.2_Nonsense_Mutation_p.E219*|DSN1_uc002xgb.2_Nonsense_Mutation_p.E219*	p.E235*	NM_001145316	NP_001138788	Q9H410	DSN1_HUMAN			8	1076	-		Myeloproliferative disorder(115;0.00874)	235					B4DWT2|E1P5U9|Q5JW55|Q5JW56|Q9H8P4	Nonsense_Mutation	SNP	ENST00000426836.1	37	c.703G>T	CCDS13286.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.686716	0.88639	.	.	ENSG00000149636	ENST00000426836;ENST00000373745;ENST00000448110;ENST00000373733;ENST00000373750;ENST00000373740;ENST00000373734;ENST00000449595;ENST00000447406;ENST00000438549	.	.	.	5.14	4.17	0.49024	.	0.457703	0.22481	N	0.059495	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.20046	T	0.44	-3.2967	9.6847	0.40091	0.0:0.9043:0.0:0.0957	.	.	.	.	X	235;235;219;168;235;163;128;219;235;135	.	ENSP00000362838:E168X	E	-	1	0	DSN1	34819926	0.009000	0.17119	1.000000	0.80357	0.513000	0.34164	0.603000	0.24149	2.666000	0.90696	0.655000	0.94253	GAG		0.338	DSN1-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079043.2	NM_024918		12	25	1	0	2.48551e-13	0.00499	3.24854e-13	12	25				
R3HDML	140902	broad.mit.edu	37	20	42969876	42969877	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	CC	CC	-	-	CC	CC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr20:42969876_42969877CC>AA	ENST00000217043.2	+	2	474_475	c.302_303CC>AA	c.(301-303)gCC>gAA	p.A101E		NM_178491.2	NP_848586.1	Q9H3Y0	CRSPL_HUMAN	R3H domain containing-like	101	SCP.					extracellular region (GO:0005576)	peptidase inhibitor activity (GO:0030414)			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)	21		Myeloproliferative disorder(115;0.028)	COAD - Colon adenocarcinoma(18;0.00189)			GAAGCCTGGGCCACCCAGTGCA	0.589																																							uc002xls.1		NA																	0					0						c.(301-303)GCC>GAA		R3H domain containing-like precursor																																				SO:0001583	missense	140902					extracellular region	peptidase inhibitor activity	g.chr20:42969876_42969877CC>AA	BC107048	CCDS13329.1	20q13.12	2007-04-26	2005-09-02		ENSG00000101074	ENSG00000101074			16249	protein-coding gene	gene with protein product			"""R3H domain (binds single-stranded nucleic acids) containing-like"""				Standard	NM_178491		Approved	dJ881L22.3	uc002xls.2	Q9H3Y0	OTTHUMG00000032524	Exception_encountered	20.37:g.42969876_42969877delinsAA	ENSP00000217043:p.Ala101Glu						p.A101E	NM_178491	NP_848586	Q9H3Y0	CRSPL_HUMAN	COAD - Colon adenocarcinoma(18;0.00189)		2	474_475	+		Myeloproliferative disorder(115;0.028)	101						Missense_Mutation	DNP	ENST00000217043.2	37	c.302_303CC>AA	CCDS13329.1																																																																																				0.589	R3HDML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079344.1	NM_178491		27	32	0	0	0	0.004672	0	27	32				
ZNF335	63925	broad.mit.edu	37	20	44592118	44592118	+	Silent	SNP	C	C	A	rs374798841		TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr20:44592118C>A	ENST00000322927.2	-	9	1627	c.1527G>T	c.(1525-1527)tcG>tcT	p.S509S	ZNF335_ENST00000426788.1_Silent_p.S354S	NM_022095.3	NP_071378.1	Q9H4Z2	ZN335_HUMAN	zinc finger protein 335	509					brain development (GO:0007420)|brain morphogenesis (GO:0048854)|cerebral cortex neuron differentiation (GO:0021895)|histone H3-K4 trimethylation (GO:0080182)|in utero embryonic development (GO:0001701)|neuron projection morphogenesis (GO:0048812)|positive regulation of lymphocyte proliferation (GO:0050671)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of neurogenesis (GO:0050769)|regulation of gene expression, epigenetic (GO:0040029)|regulation of histone H3-K4 methylation (GO:0051569)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(13)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	51		Myeloproliferative disorder(115;0.0122)				GCACCTTGAGCGAGGACCAGC	0.627																																							uc002xqw.2		NA																	0				skin(3)|ovary(1)	4						c.(1525-1527)TCG>TCT		zinc finger protein 335							42.0	46.0	45.0					20																	44592118		2203	4299	6502	SO:0001819	synonymous_variant	63925				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:44592118C>A	AK026157	CCDS13389.1	20q13.12	2011-09-12			ENSG00000198026	ENSG00000198026		"""Zinc fingers, C2H2-type"""	15807	protein-coding gene	gene with protein product	"""NRC-interacting factor 1"""	610827				12215545, 19131338	Standard	NM_022095		Approved	bA465L10.2, NIF-1	uc002xqw.3	Q9H4Z2	OTTHUMG00000032637	ENST00000322927.2:c.1527G>T	20.37:g.44592118C>A						ZNF335_uc010zxk.1_Silent_p.S354S	p.S509S	NM_022095	NP_071378	Q9H4Z2	ZN335_HUMAN			9	1650	-		Myeloproliferative disorder(115;0.0122)	509			C2H2-type 3.		B4DLG7|Q548D0|Q9H684	Silent	SNP	ENST00000322927.2	37	c.1527G>T	CCDS13389.1																																																																																				0.627	ZNF335-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079553.1	NM_022095		37	15	1	0	1.83081e-24	0.00361	2.72461e-24	37	15				
ZNF335	63925	broad.mit.edu	37	20	44596595	44596595	+	Missense_Mutation	SNP	C	C	G			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr20:44596595C>G	ENST00000322927.2	-	5	692	c.592G>C	c.(592-594)Gat>Cat	p.D198H	ZNF335_ENST00000494955.1_5'UTR|ZNF335_ENST00000426788.1_Missense_Mutation_p.D43H	NM_022095.3	NP_071378.1	Q9H4Z2	ZN335_HUMAN	zinc finger protein 335	198					brain development (GO:0007420)|brain morphogenesis (GO:0048854)|cerebral cortex neuron differentiation (GO:0021895)|histone H3-K4 trimethylation (GO:0080182)|in utero embryonic development (GO:0001701)|neuron projection morphogenesis (GO:0048812)|positive regulation of lymphocyte proliferation (GO:0050671)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of neurogenesis (GO:0050769)|regulation of gene expression, epigenetic (GO:0040029)|regulation of histone H3-K4 methylation (GO:0051569)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(13)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	51		Myeloproliferative disorder(115;0.0122)				GTGGGGCCATCTGCCAGGGCC	0.657																																							uc002xqw.2		NA																	0				skin(3)|ovary(1)	4						c.(592-594)GAT>CAT		zinc finger protein 335							31.0	31.0	31.0					20																	44596595		2196	4289	6485	SO:0001583	missense	63925				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:44596595C>G	AK026157	CCDS13389.1	20q13.12	2011-09-12			ENSG00000198026	ENSG00000198026		"""Zinc fingers, C2H2-type"""	15807	protein-coding gene	gene with protein product	"""NRC-interacting factor 1"""	610827				12215545, 19131338	Standard	NM_022095		Approved	bA465L10.2, NIF-1	uc002xqw.3	Q9H4Z2	OTTHUMG00000032637	ENST00000322927.2:c.592G>C	20.37:g.44596595C>G	ENSP00000325326:p.Asp198His					ZNF335_uc010zxk.1_Missense_Mutation_p.D43H|ZNF335_uc002xqx.1_Missense_Mutation_p.D166H|ZNF335_uc002xqy.2_Missense_Mutation_p.D43H	p.D198H	NM_022095	NP_071378	Q9H4Z2	ZN335_HUMAN			5	715	-		Myeloproliferative disorder(115;0.0122)	198					B4DLG7|Q548D0|Q9H684	Missense_Mutation	SNP	ENST00000322927.2	37	c.592G>C	CCDS13389.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.040101	0.75732	.	.	ENSG00000198026	ENST00000322927;ENST00000426788	T;T	0.12147	2.8;2.71	4.35	4.35	0.52113	.	0.064498	0.64402	D	0.000010	T	0.23649	0.0572	N	0.24115	0.695	0.51767	D	0.999934	D;D	0.89917	1.0;0.999	D;P	0.85130	0.997;0.908	T	0.03296	-1.1051	10	0.66056	D	0.02	-15.7042	14.1885	0.65623	0.0:1.0:0.0:0.0	.	43;198	Q9H4Z2-2;Q9H4Z2	.;ZN335_HUMAN	H	198;43	ENSP00000325326:D198H;ENSP00000397098:D43H	ENSP00000325326:D198H	D	-	1	0	ZNF335	44030002	1.000000	0.71417	0.910000	0.35882	0.949000	0.60115	6.467000	0.73547	2.249000	0.74217	0.561000	0.74099	GAT		0.657	ZNF335-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079553.1	NM_022095		8	51	0	0	0	0.00308	0	8	51				
SULF2	55959	broad.mit.edu	37	20	46365657	46365657	+	Missense_Mutation	SNP	G	G	T	rs549518880		TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr20:46365657G>T	ENST00000359930.4	-	3	1056	c.205C>A	c.(205-207)Cgc>Agc	p.R69S	SULF2_ENST00000478766.1_5'UTR|SULF2_ENST00000484875.1_Missense_Mutation_p.R69S|SULF2_ENST00000467815.1_Missense_Mutation_p.R69S|SULF2_ENST00000361612.4_Missense_Mutation_p.R69S	NM_018837.3	NP_061325.1	Q8IWU5	SULF2_HUMAN	sulfatase 2	69					bone development (GO:0060348)|cartilage development (GO:0051216)|chondrocyte development (GO:0002063)|embryonic skeletal system development (GO:0048706)|esophagus smooth muscle contraction (GO:0014846)|glial cell-derived neurotrophic factor receptor signaling pathway (GO:0035860)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|heparan sulfate proteoglycan metabolic process (GO:0030201)|innervation (GO:0060384)|kidney development (GO:0001822)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation vascular endothelial growth factor production (GO:0010575)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	arylsulfatase activity (GO:0004065)|calcium ion binding (GO:0005509)|N-acetylglucosamine-6-sulfatase activity (GO:0008449)			breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						TCCATGATGCGCCGGGTCTTG	0.637													G|||	1	0.000199681	0.0	0.0	5008	,	,		18486	0.0		0.0	False		,,,				2504	0.001						uc002xto.2		NA																	0				ovary(2)|breast(2)|pancreas(1)|skin(1)	6						c.(205-207)CGC>AGC		sulfatase 2 isoform a precursor							141.0	119.0	127.0					20																	46365657		2203	4300	6503	SO:0001583	missense	55959				bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding	g.chr20:46365657G>T	AY101176	CCDS13408.1, CCDS13409.1, CCDS13409.2	20q13.12-q13.13	2008-05-14			ENSG00000196562	ENSG00000196562			20392	protein-coding gene	gene with protein product		610013				12368295	Standard	NM_018837		Approved	KIAA1247, HSULF-2, SULF-2	uc002xto.3	Q8IWU5	OTTHUMG00000032675	ENST00000359930.4:c.205C>A	20.37:g.46365657G>T	ENSP00000353007:p.Arg69Ser					SULF2_uc002xtr.2_Missense_Mutation_p.R69S|SULF2_uc002xtq.2_Missense_Mutation_p.R69S|SULF2_uc010ghv.1_Missense_Mutation_p.R69S	p.R69S	NM_018837	NP_061325	Q8IWU5	SULF2_HUMAN			3	535	-			69					E1P5U6|Q5JYE1|Q6UX86|Q96SG2|Q9H1H0|Q9UJR3|Q9ULH3	Missense_Mutation	SNP	ENST00000359930.4	37	c.205C>A	CCDS13408.1	.	.	.	.	.	.	.	.	.	.	G	17.15	3.316799	0.60524	.	.	ENSG00000196562	ENST00000359930;ENST00000484875;ENST00000361612;ENST00000467815;ENST00000437955	D;D;D;D;D	0.96200	-3.94;-3.94;-3.94;-3.94;-3.52	5.44	4.41	0.53225	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.161226	0.53938	D	0.000043	D	0.95281	0.8469	L	0.43598	1.365	0.48236	D	0.999615	P;D;D	0.54397	0.698;0.958;0.966	B;P;P	0.54664	0.323;0.644;0.758	D	0.94698	0.7880	10	0.41790	T	0.15	-16.2597	16.8863	0.86077	0.0:0.0:0.8631:0.1369	.	69;69;69	G3XAE6;Q8IWU5-2;Q8IWU5	.;.;SULF2_HUMAN	S	69	ENSP00000353007:R69S;ENSP00000418290:R69S;ENSP00000354662:R69S;ENSP00000418442:R69S;ENSP00000410026:R69S	ENSP00000353007:R69S	R	-	1	0	SULF2	45799064	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.876000	0.48498	2.559000	0.86315	0.561000	0.74099	CGC		0.637	SULF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079606.1	NM_018837		28	59	1	0	1.07637e-12	0.004878	1.39059e-12	28	59				
ARFGEF2	10564	broad.mit.edu	37	20	47569250	47569250	+	Silent	SNP	G	G	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr20:47569250G>T	ENST00000371917.4	+	5	432	c.432G>T	c.(430-432)ctG>ctT	p.L144L		NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)	144	DCB; DCB:DCB domain and DCB:HUS domain interaction.				endomembrane system organization (GO:0010256)|endosome organization (GO:0007032)|exocytosis (GO:0006887)|Golgi to plasma membrane transport (GO:0006893)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|positive regulation of tumor necrosis factor production (GO:0032760)|protein transport (GO:0015031)|receptor recycling (GO:0001881)|regulation of ARF protein signal transduction (GO:0032012)|vesicle-mediated transport (GO:0016192)	asymmetric synapse (GO:0032279)|axonemal microtubule (GO:0005879)|cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|recycling endosome (GO:0055037)|symmetric synapse (GO:0032280)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|GABA receptor binding (GO:0050811)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein kinase A regulatory subunit binding (GO:0034237)			breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			AGGCTCTTCTGACTGCAGTGA	0.453																																					Esophageal Squamous(176;1738 1974 26285 33069 35354)	Esophageal Squamous(176;1738 1974 26285 33069 35354)	uc002xtx.3		NA																	0				breast(3)|upper_aerodigestive_tract(1)	4						c.(430-432)CTG>CTT		ADP-ribosylation factor guanine							136.0	121.0	126.0					20																	47569250		2203	4300	6503	SO:0001819	synonymous_variant	10564				exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	cytosol|Golgi membrane	ARF guanyl-nucleotide exchange factor activity	g.chr20:47569250G>T	AF084521	CCDS13411.1	20q13.13	2010-08-20			ENSG00000124198	ENSG00000124198		"""A-kinase anchor proteins"""	15853	protein-coding gene	gene with protein product	"""Brefeldin A-inhibited guanine nucleotide-exchange protein 2"""	605371				10212200	Standard	NM_006420		Approved	BIG2	uc002xtx.4	Q9Y6D5	OTTHUMG00000032687	ENST00000371917.4:c.432G>T	20.37:g.47569250G>T							p.L144L	NM_006420	NP_006411	Q9Y6D5	BIG2_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)		5	584	+			144					Q5TFT9|Q9NTS1	Silent	SNP	ENST00000371917.4	37	c.432G>T	CCDS13411.1																																																																																				0.453	ARFGEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079627.1	NM_006420		9	74	1	0	2.80697e-09	0.000978	3.38784e-09	9	74				
NFATC2	4773	broad.mit.edu	37	20	50140440	50140440	+	Nonsense_Mutation	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr20:50140440C>A	ENST00000396009.3	-	2	559	c.340G>T	c.(340-342)Gag>Tag	p.E114*	NFATC2_ENST00000414705.1_Nonsense_Mutation_p.E94*|NFATC2_ENST00000610033.1_Intron|NFATC2_ENST00000371564.3_Nonsense_Mutation_p.E114*|NFATC2_ENST00000609943.1_Nonsense_Mutation_p.E94*|NFATC2_ENST00000609507.1_Intron	NM_001258297.1|NM_173091.3	NP_001245226.1|NP_775114.1	Q13469	NFAC2_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2	114	Calcineurin-binding.				B cell receptor signaling pathway (GO:0050853)|cell migration (GO:0016477)|cellular response to DNA damage stimulus (GO:0006974)|cytokine production (GO:0001816)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear transcription factor complex (GO:0044798)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|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 transcription factor activity (GO:0003700)		EWSR1/NFATC2(9)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53	Hepatocellular(150;0.248)					GGAGTGATCTCGATCCGAGGG	0.716																																							uc002xwd.2		NA																	0				ovary(2)	2						c.(340-342)GAG>TAG		nuclear factor of activated T-cells,							29.0	32.0	31.0					20																	50140440		2193	4283	6476	SO:0001587	stop_gained	4773				B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug	actin cytoskeleton|nucleus|plasma membrane	protein binding|sequence-specific DNA binding transcription factor activity	g.chr20:50140440C>A	U43342, U43341	CCDS13437.1, CCDS33488.1, CCDS46614.1, CCDS68156.1, CCDS68157.1	20q13.2	2009-11-24			ENSG00000101096	ENSG00000101096		"""Nuclear factor of activated T-cells"""	7776	protein-coding gene	gene with protein product		600490				8202141	Standard	NM_012340		Approved	NF-ATP, NFATp, NFAT1	uc002xwd.4	Q13469	OTTHUMG00000032747	ENST00000396009.3:c.340G>T	20.37:g.50140440C>A	ENSP00000379330:p.Glu114*					NFATC2_uc002xwc.2_Nonsense_Mutation_p.E114*|NFATC2_uc010zyv.1_Intron|NFATC2_uc010zyw.1_Intron|NFATC2_uc010zyx.1_Nonsense_Mutation_p.E94*|NFATC2_uc010zyy.1_Intron|NFATC2_uc010zyz.1_Intron|NFATC2_uc002xwe.2_Nonsense_Mutation_p.E94*	p.E114*	NM_173091	NP_775114	Q13469	NFAC2_HUMAN			2	560	-	Hepatocellular(150;0.248)		114			Calcineurin-binding.		B5B2N8|B5B2N9|B5B2P0|B5B2P2|B5B2P3|Q13468|Q5TFW7|Q5TFW8|Q9NPX6|Q9NQH3|Q9UJR2	Nonsense_Mutation	SNP	ENST00000396009.3	37	c.340G>T	CCDS13437.1	.	.	.	.	.	.	.	.	.	.	C	40	7.958300	0.98583	.	.	ENSG00000101096	ENST00000371564;ENST00000396009;ENST00000414705	.	.	.	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-23.7573	19.8391	0.96675	0.0:1.0:0.0:0.0	.	.	.	.	X	114;114;94	.	ENSP00000360619:E114X	E	-	1	0	NFATC2	49573847	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.813000	0.86123	2.690000	0.91761	0.462000	0.41574	GAG		0.716	NFATC2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079730.2	NM_012340		18	49	1	0	5.26018e-13	0.001882	6.83959e-13	18	49				
DNMT3L	29947	broad.mit.edu	37	21	45678524	45678524	+	Missense_Mutation	SNP	T	T	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr21:45678524T>A	ENST00000418993.1	-	6	881	c.398A>T	c.(397-399)aAg>aTg	p.K133M	DNMT3L_ENST00000270172.3_Missense_Mutation_p.K133M	NM_175867.2	NP_787063.1	Q9UJW3	DNM3L_HUMAN	DNA (cytosine-5-)-methyltransferase 3-like	133	ADD. {ECO:0000255|PROSITE- ProRule:PRU00865}.				chorionic trophoblast cell differentiation (GO:0060718)|DNA methylation (GO:0006306)|in utero embryonic development (GO:0001701)|negative regulation of transcription, DNA-templated (GO:0045892)|placenta development (GO:0001890)|positive regulation of catalytic activity (GO:0043085)|regulation of gene expression by genetic imprinting (GO:0006349)|spermatogenesis (GO:0007283)	condensed nuclear chromosome (GO:0000794)|cytosol (GO:0005829)|nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634)	enzyme activator activity (GO:0008047)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(3)	11				Colorectal(79;0.0165)|READ - Rectum adenocarcinoma(84;0.0781)		GGCGTGCACCTTCCCCGAGGT	0.642																																							uc002zeg.1		NA																	0				skin(2)	2						c.(397-399)AAG>ATG		cytosine-5-methyltransferase 3-like protein							41.0	43.0	42.0					21																	45678524		2200	4299	6499	SO:0001583	missense	29947				DNA methylation|negative regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|spermatogenesis	cytosol	enzyme activator activity|enzyme binding|metal ion binding	g.chr21:45678524T>A	AF194032	CCDS13705.1	21q22.3	2008-07-31			ENSG00000142182	ENSG00000142182			2980	protein-coding gene	gene with protein product	"""cytosine-5-methyltransferase 3-like protein"", ""human cytosine-5-methyltransferase 3-like protein"""	606588				10857753	Standard	NM_013369		Approved	MGC1090	uc002zeh.2	Q9UJW3	OTTHUMG00000086914	ENST00000418993.1:c.398A>T	21.37:g.45678524T>A	ENSP00000412862:p.Lys133Met					DNMT3L_uc002zeh.1_Missense_Mutation_p.K133M	p.K133M	NM_175867	NP_787063	Q9UJW3	DNM3L_HUMAN		Colorectal(79;0.0165)|READ - Rectum adenocarcinoma(84;0.0781)	6	882	-			133			PHD-type; atypical.|ADD.		E9PB42|Q9BUJ4	Missense_Mutation	SNP	ENST00000418993.1	37	c.398A>T	CCDS46650.1	.	.	.	.	.	.	.	.	.	.	T	8.522	0.869095	0.17322	.	.	ENSG00000142182	ENST00000270172;ENST00000418993;ENST00000431166	T;T;T	0.78126	-1.15;-1.15;-1.15	3.08	-1.24	0.09435	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, FYVE/PHD-type (1);	0.394655	0.22318	N	0.061654	T	0.74068	0.3668	L	0.47716	1.5	0.09310	N	1	D;D	0.62365	0.991;0.991	P;P	0.54140	0.743;0.743	T	0.66333	-0.5950	10	0.59425	D	0.04	-9.7852	6.3779	0.21517	0.0:0.4849:0.0:0.5151	.	133;133	Q9UJW3-2;Q9UJW3	.;DNM3L_HUMAN	M	133;133;118	ENSP00000270172:K133M;ENSP00000412862:K133M;ENSP00000400242:K118M	ENSP00000270172:K133M	K	-	2	0	DNMT3L	44502952	0.000000	0.05858	0.000000	0.03702	0.106000	0.19336	-1.011000	0.03652	-0.219000	0.10003	0.459000	0.35465	AAG		0.642	DNMT3L-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000195820.1	NM_013369		14	20	0	0	0	0.007413	0	14	20				
TSPEAR	54084	broad.mit.edu	37	21	45929228	45929228	+	Missense_Mutation	SNP	C	C	G			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr21:45929228C>G	ENST00000323084.4	-	10	1673	c.1608G>C	c.(1606-1608)gaG>gaC	p.E536D	TSPEAR-AS1_ENST00000451035.1_RNA|TSPEAR_ENST00000397916.1_Missense_Mutation_p.E468D|TSPEAR-AS1_ENST00000430181.1_RNA	NM_001272037.1|NM_144991.2	NP_001258966.1|NP_659428.2	Q8WU66	TSEAR_HUMAN	thrombospondin-type laminin G domain and EAR repeats	536					sensory perception of sound (GO:0007605)	cell surface (GO:0009986)|ciliary membrane (GO:0060170)|extracellular region (GO:0005576)|stereocilium (GO:0032420)				breast(1)|central_nervous_system(6)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	37						GGAAGATCCTCTCCCCGATCT	0.572																																							uc002zfe.1		NA																	0					0						c.(1606-1608)GAG>GAC		chromosome 21 open reading frame 29 precursor							158.0	105.0	123.0					21																	45929228		2203	4300	6503	SO:0001583	missense	54084				cell adhesion	extracellular region	structural molecule activity	g.chr21:45929228C>G	AJ487962	CCDS13712.1, CCDS74801.1	21q22.3	2012-10-30	2011-01-25	2011-01-25	ENSG00000175894	ENSG00000175894			1268	protein-coding gene	gene with protein product		612920	"""chromosome 21 open reading frame 29"", ""deafness, autosomal recessive 98"""	C21orf29, DFNB98		12095917, 22678063	Standard	NM_144991		Approved	MGC11251, TSP-EAR	uc002zfe.1	Q8WU66	OTTHUMG00000041215	ENST00000323084.4:c.1608G>C	21.37:g.45929228C>G	ENSP00000321987:p.Glu536Asp					C21orf29_uc010gpv.1_Missense_Mutation_p.E468D	p.E536D	NM_144991	NP_659428	Q8WU66	TSEAR_HUMAN			10	1674	-			536			EAR 5.			Missense_Mutation	SNP	ENST00000323084.4	37	c.1608G>C	CCDS13712.1	.	.	.	.	.	.	.	.	.	.	C	14.21	2.466530	0.43839	.	.	ENSG00000175894	ENST00000323084;ENST00000397918;ENST00000397916;ENST00000341581	T;T	0.79653	-1.29;-1.29	3.98	0.621	0.17643	.	0.391892	0.27831	N	0.017678	T	0.52901	0.1763	N	0.03324	-0.35	0.26071	N	0.98122	B	0.06786	0.001	B	0.10450	0.005	T	0.41233	-0.9520	10	0.07644	T	0.81	-0.4483	9.9389	0.41567	0.1272:0.2759:0.5969:0.0	.	536	Q8WU66	TSEAR_HUMAN	D	536;389;468;537	ENSP00000321987:E536D;ENSP00000381012:E468D	ENSP00000321987:E536D	E	-	3	2	TSPEAR	44753656	1.000000	0.71417	0.980000	0.43619	0.933000	0.57130	1.090000	0.30902	0.364000	0.24374	0.558000	0.71614	GAG		0.572	TSPEAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098761.1	NM_144991		8	17	0	0	0	0.008291	0	8	17				
KRTAP10-2	386679	broad.mit.edu	37	21	45970596	45970596	+	Nonsense_Mutation	SNP	G	G	C			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr21:45970596G>C	ENST00000391621.1	-	1	792	c.746C>G	c.(745-747)tCa>tGa	p.S249*	TSPEAR_ENST00000397916.1_Intron|TSPEAR_ENST00000323084.4_Intron|KRTAP10-2_ENST00000498210.1_Intron	NM_198693.2	NP_941966.1	P60368	KR102_HUMAN	keratin associated protein 10-2	249						keratin filament (GO:0045095)				large_intestine(1)|lung(4)|skin(1)	6						CTTTTGGCCTGAGGAAAAGCT	0.677																																							uc002zfi.1		NA																	0				large_intestine(1)	1						c.(745-747)TCA>TGA		keratin associated protein 10-2							46.0	57.0	53.0					21																	45970596		2201	4291	6492	SO:0001587	stop_gained	386679					keratin filament		g.chr21:45970596G>C	AJ566381	CCDS42955.1	21q22.3	2007-10-05			ENSG00000205445	ENSG00000205445		"""Keratin associated proteins"""	22967	protein-coding gene	gene with protein product				KRTAP18-2			Standard	NM_198693		Approved	KAP10.2, KAP18.2	uc002zfi.1	P60368	OTTHUMG00000057625	ENST00000391621.1:c.746C>G	21.37:g.45970596G>C	ENSP00000375479:p.Ser249*					C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron	p.S249*	NM_198693	NP_941966	P60368	KR102_HUMAN			1	793	-			249					Q70LJ5	Nonsense_Mutation	SNP	ENST00000391621.1	37	c.746C>G	CCDS42955.1	.	.	.	.	.	.	.	.	.	.	g	13.43	2.234743	0.39498	.	.	ENSG00000205445	ENST00000391621	.	.	.	2.15	-0.201	0.13212	.	.	.	.	.	.	.	.	.	.	.	0.22842	N	0.998665	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	.	4.7054	0.12848	0.1761:0.2482:0.5757:0.0	.	.	.	.	X	249	.	ENSP00000375479:S249X	S	-	2	0	KRTAP10-2	44795024	0.004000	0.15560	0.004000	0.12327	0.124000	0.20399	-0.166000	0.09954	0.103000	0.17682	0.313000	0.20887	TCA		0.677	KRTAP10-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128027.1			15	75	0	0	0	0.00499	0	15	75				
DIP2A	23181	broad.mit.edu	37	21	47987424	47987424	+	Silent	SNP	G	G	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr21:47987424G>T	ENST00000417564.2	+	38	4626	c.4605G>T	c.(4603-4605)gtG>gtT	p.V1535V	DIP2A_ENST00000479654.1_3'UTR|DIP2A_ENST00000318711.7_Silent_p.V1536V|DIP2A_ENST00000400274.1_Silent_p.V1531V			Q14689	DIP2A_HUMAN	DIP2 disco-interacting protein 2 homolog A (Drosophila)	1535					multicellular organismal development (GO:0007275)|negative regulation of gene expression (GO:0010629)|regulation of apoptotic process (GO:0042981)	cell surface (GO:0009986)|nucleus (GO:0005634)	catalytic activity (GO:0003824)			cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(49;0.0933)			Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)		TGGTCATCGTGGACCCAGGGG	0.632																																							uc002zjo.2		NA																	0				ovary(2)	2						c.(4603-4605)GTG>GTT		disco-interacting protein 2A isoform a							88.0	100.0	96.0					21																	47987424		2203	4300	6503	SO:0001819	synonymous_variant	23181				multicellular organismal development	nucleus	catalytic activity|transcription factor binding	g.chr21:47987424G>T	AF490768	CCDS46655.1, CCDS46656.1, CCDS46657.1, CCDS54490.1, CCDS54491.1	21q22.3	2010-08-20	2006-01-13	2006-01-13	ENSG00000160305	ENSG00000160305			17217	protein-coding gene	gene with protein product		607711	"""chromosome 21 open reading frame 106"""	C21orf106			Standard	NM_015151		Approved	Dip2, KIAA0184	uc002zjo.2	Q14689	OTTHUMG00000090717	ENST00000417564.2:c.4605G>T	21.37:g.47987424G>T						DIP2A_uc011afz.1_Silent_p.V1531V|DIP2A_uc002zjs.2_Silent_p.V215V|DIP2A_uc002zjt.2_RNA	p.V1535V	NM_015151	NP_055966	Q14689	DIP2A_HUMAN		Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)	38	4788	+	Breast(49;0.0933)		1535					A6P4T3|B4E0F0|E7EMA5|Q8IVA3|Q8N4S2|Q8TD89|Q96ML9	Silent	SNP	ENST00000417564.2	37	c.4605G>T	CCDS46655.1																																																																																				0.632	DIP2A-012	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376736.1	NM_015151		15	18	1	0	1.3612e-06	0.003163	1.55017e-06	15	18				
UFD1L	7353	broad.mit.edu	37	22	19455527	19455527	+	Splice_Site	SNP	C	C	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr22:19455527C>T	ENST00000263202.10	-	5	421		c.e5-1		UFD1L_ENST00000484101.1_Splice_Site|UFD1L_ENST00000360834.4_Splice_Site|UFD1L_ENST00000399523.1_Splice_Site	NM_001035247.2|NM_005659.6	NP_001030324.2|NP_005650.2	Q92890	UFD1_HUMAN	ubiquitin fusion degradation 1 like (yeast)						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)					TCTGCATCATCTGAAAGGAAG	0.537																																							uc002zpm.2		NA																	0					0						c.e5-1		ubiquitin fusion degradation 1-like isoform A							72.0	71.0	71.0					22																	19455527		2203	4300	6503	SO:0001630	splice_region_variant	7353				skeletal system development|ubiquitin-dependent protein catabolic process	cytosol|nucleus	protein binding|ubiquitin-specific protease activity	g.chr22:19455527C>T	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.292-1G>A	22.37:g.19455527C>T						UFD1L_uc002zpo.2_Splice_Site_p.M98_splice|UFD1L_uc011agy.1_Splice_Site_p.M98_splice|UFD1L_uc002zpp.2_Splice_Site_p.M51_splice|UFD1L_uc010grq.2_Splice_Site_p.M51_splice	p.M98_splice	NM_005659	NP_005650	Q92890	UFD1_HUMAN			5	422	-	Colorectal(54;0.0993)							A8MW31|Q9Y5N0	Splice_Site	SNP	ENST00000263202.10	37	c.292_splice	CCDS13761.1	.	.	.	.	.	.	.	.	.	.	C	19.15	3.772019	0.69992	.	.	ENSG00000070010	ENST00000263202;ENST00000360834;ENST00000399523;ENST00000399525;ENST00000447868;ENST00000421968;ENST00000494054;ENST00000474226	.	.	.	4.85	4.85	0.62838	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.9423	0.52907	0.0:0.9201:0.0:0.0799	.	.	.	.	.	-1	.	.	.	-	.	.	UFD1L	17835527	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	4.474000	0.60203	2.684000	0.91462	0.555000	0.69702	.		0.537	UFD1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316460.6		Intron	4	35	0	0	0	0.009096	0	4	35				
SLC7A4	6545	broad.mit.edu	37	22	21385387	21385388	+	Missense_Mutation	DNP	CC	CC	AT			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	CC	CC	-	-	CC	CC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr22:21385387_21385388CC>AT	ENST00000382932.2	-	2	781_782	c.714_715GG>AT	c.(712-717)atGGcc>atATcc	p.238_239MA>IS	AC002472.11_ENST00000450652.1_RNA|SLC7A4_ENST00000403586.1_Missense_Mutation_p.238_239MA>IS	NM_004173.2	NP_004164.2	O43246	CTR4_HUMAN	solute carrier family 7, member 4	238					basic amino acid transport (GO:0015802)|cellular amino acid metabolic process (GO:0006520)|transport (GO:0006810)	integral component of membrane (GO:0016021)	basic amino acid transmembrane transporter activity (GO:0015174)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|ovary(1)|prostate(2)	18	all_cancers(11;2.85e-22)|Lung NSC(8;4.21e-14)|all_lung(8;6.08e-13)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0968)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)		L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	GCAGTGCCGGCCATGACGCCGG	0.614																																							uc002zud.2		NA																	0				ovary(1)|lung(1)	2						c.(712-717)ATGGCC>ATATCC		solute carrier family 7 (cationic amino acid	L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)																																			SO:0001583	missense	6545				cellular amino acid metabolic process	integral to membrane	basic amino acid transmembrane transporter activity	g.chr22:21385387_21385388CC>AT	AJ000730	CCDS33608.1	22q11.21	2013-07-19	2013-07-19		ENSG00000099960	ENSG00000099960		"""Solute carriers"""	11062	protein-coding gene	gene with protein product		603752	"""solute carrier family 7 (cationic amino acid transporter, y+ system), member 4"", ""solute carrier family 7 (orphan transporter), member 4"""			9598310, 11665818	Standard	NM_004173		Approved	HCAT3, CAT-4, VH	uc002zud.3	O43246	OTTHUMG00000150896	ENST00000382932.2:c.714_715delinsAT	22.37:g.21385387_21385388delinsAT	ENSP00000372390:p.M238_A239delinsIS					SLC7A4_uc002zue.2_Missense_Mutation_p.238_239MA>IS	p.238_239MA>IS	NM_004173	NP_004164	O43246	CTR4_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)		2	782_783	-	all_cancers(11;2.85e-22)|Lung NSC(8;4.21e-14)|all_lung(8;6.08e-13)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0968)	Lung SC(17;0.0262)	238_239			Helical; (Potential).		Q0P5U2|Q3KNQ6|Q4VC45|Q6IBY8|Q96H88	Missense_Mutation	DNP	ENST00000382932.2	37	c.714_715GG>AT	CCDS33608.1																																																																																				0.614	SLC7A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320467.1	NM_004173		8	16	0	0	0	0.004672	0	8	16				
CCDC116	164592	broad.mit.edu	37	22	21991024	21991024	+	Missense_Mutation	SNP	G	G	C	rs143471938		TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr22:21991024G>C	ENST00000292779.3	+	5	1668	c.1507G>C	c.(1507-1509)Gag>Cag	p.E503Q		NM_152612.2	NP_689825.2	Q8IYX3	CC116_HUMAN	coiled-coil domain containing 116	503										endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(5)	22	Colorectal(54;0.105)					GCGTAAACTGGAGGAGTCCAA	0.632																																							uc002zve.2		NA																	0				ovary(1)|skin(1)	2						c.(1507-1509)GAG>CAG		coiled-coil domain containing 116		G	GLN/GLU	1,4405	2.1+/-5.4	0,1,2202	48.0	54.0	52.0		1507	1.3	0.1	22	dbSNP_134	52	0,8600		0,0,4300	no	missense	CCDC116	NM_152612.2	29	0,1,6502	CC,CG,GG		0.0,0.0227,0.0077	probably-damaging	503/614	21991024	1,13005	2203	4300	6503	SO:0001583	missense	164592							g.chr22:21991024G>C	BC033499	CCDS13791.1	22q11.21	2006-06-27			ENSG00000161180	ENSG00000161180			26688	protein-coding gene	gene with protein product						12477932	Standard	NM_152612		Approved	FLJ36046	uc002zve.3	Q8IYX3	OTTHUMG00000150821	ENST00000292779.3:c.1507G>C	22.37:g.21991024G>C	ENSP00000292779:p.Glu503Gln						p.E503Q	NM_152612	NP_689825	Q8IYX3	CC116_HUMAN			5	1600	+	Colorectal(54;0.105)		503					Q8N9Y9	Missense_Mutation	SNP	ENST00000292779.3	37	c.1507G>C	CCDS13791.1	.	.	.	.	.	.	.	.	.	.	G	16.29	3.080399	0.55753	2.27E-4	0.0	ENSG00000161180	ENST00000292779	T	0.22336	1.96	4.7	1.26	0.21427	.	0.155855	0.29799	N	0.011169	T	0.14917	0.0360	L	0.39898	1.24	0.09310	N	0.999999	P	0.46142	0.873	B	0.40066	0.318	T	0.12604	-1.0541	10	0.87932	D	0	-30.9405	6.4235	0.21756	0.0995:0.3571:0.5434:0.0	.	503	Q8IYX3-2	.	Q	503	ENSP00000292779:E503Q	ENSP00000292779:E503Q	E	+	1	0	CCDC116	20321024	0.989000	0.36119	0.079000	0.20413	0.057000	0.15508	0.970000	0.29383	0.168000	0.19655	0.484000	0.47621	GAG		0.632	CCDC116-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320199.1	NM_152612		8	52	0	0	0	0.000978	0	8	52				
MYO18B	84700	broad.mit.edu	37	22	26239702	26239702	+	Splice_Site	SNP	G	G	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr22:26239702G>T	ENST00000407587.2	+	18	3381	c.3212G>T	c.(3211-3213)gGg>gTg	p.G1071V	MYO18B_ENST00000335473.7_Splice_Site_p.G1070V|MYO18B_ENST00000536101.1_Splice_Site_p.G1070V			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	1070	Myosin motor.					cytoplasm (GO:0005737)|nucleus (GO:0005634)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						CTGTTTCCAGGGTCCTCTGCC	0.572																																							uc003abz.1		NA																	0				ovary(5)|central_nervous_system(3)|large_intestine(2)|breast(2)	12						c.(3208-3210)GGG>GTG		myosin XVIIIB							93.0	97.0	96.0					22																	26239702		2051	4197	6248	SO:0001630	splice_region_variant	84700					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity	g.chr22:26239702G>T	AJ310931	CCDS54507.1	22q12.1	2011-09-27			ENSG00000133454	ENSG00000133454		"""Myosins / Myosin superfamily : Class XVIII"""	18150	protein-coding gene	gene with protein product		607295				12209013, 12547197	Standard	NM_032608		Approved	BK125H2.1	uc003abz.1	Q8IUG5	OTTHUMG00000151129	ENST00000407587.2:c.3212-1G>T	22.37:g.26239702G>T						MYO18B_uc003aca.1_Missense_Mutation_p.G951V|MYO18B_uc010guy.1_Missense_Mutation_p.G952V|MYO18B_uc010guz.1_Missense_Mutation_p.G951V|MYO18B_uc011aka.1_Missense_Mutation_p.G224V|MYO18B_uc011akb.1_Missense_Mutation_p.G583V	p.G1070V	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN			18	3459	+			1070			Myosin head-like.		B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Missense_Mutation	SNP	ENST00000407587.2	37	c.3209G>T		.	.	.	.	.	.	.	.	.	.	G	14.13	2.442883	0.43326	.	.	ENSG00000133454	ENST00000536101;ENST00000335473;ENST00000407587	D;D;D	0.87491	-2.26;-2.26;-2.26	4.71	1.4	0.22301	Myosin head, motor domain (2);	0.488388	0.20547	N	0.090193	D	0.89522	0.6739	M	0.81341	2.54	0.58432	D	0.999996	P;D;D;D	0.57257	0.903;0.977;0.979;0.971	P;P;P;P	0.56042	0.65;0.762;0.79;0.65	D	0.86061	0.1532	9	.	.	.	.	5.9216	0.19086	0.6373:0.0:0.3627:0.0	.	583;1070;1071;1070	Q8IUG5-2;Q8IUG5;F5GXR6;F5GYU7	.;MY18B_HUMAN;.;.	V	1070;1070;1071	ENSP00000441229:G1070V;ENSP00000334563:G1070V;ENSP00000386096:G1071V	.	G	+	2	0	MYO18B	24569702	0.758000	0.28405	0.115000	0.21578	0.066000	0.16364	0.925000	0.28791	0.161000	0.19458	-0.133000	0.14855	GGG		0.572	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000400691.1	NM_032608	Missense_Mutation	87	45	1	0	3.46703e-50	0.00361	5.60614e-50	87	45				
MN1	4330	broad.mit.edu	37	22	28195093	28195093	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr22:28195093C>A	ENST00000302326.4	-	1	2393	c.1439G>T	c.(1438-1440)gGc>gTc	p.G480V		NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN	meningioma (disrupted in balanced translocation) 1	480					intramembranous ossification (GO:0001957)					NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						ATCCAGAGCGCCGTTGTGCAT	0.682			T	ETV6	"""AML, meningioma"""																																		uc003adj.2		NA		Dom	yes		22	22q13	4330	T	meningioma (disrupted in balanced translocation) 1			"""L, O"""	ETV6		AML|meningioma		0				central_nervous_system(3)|lung(3)|large_intestine(1)|breast(1)|skin(1)|ovary(1)	10						c.(1438-1440)GGC>GTC		meningioma  1							16.0	20.0	19.0					22																	28195093		2115	4231	6346	SO:0001583	missense	4330						binding	g.chr22:28195093C>A	X82209	CCDS42998.1	22q12.1	2010-09-29			ENSG00000169184	ENSG00000169184			7180	protein-coding gene	gene with protein product	"""probable tumor suppressor protein MN1"""	156100	"""meningioma chromosome region"""	MGCR		7731706, 12569362	Standard	NM_002430		Approved	MGCR1-PEN, MGCR1	uc003adj.3	Q10571	OTTHUMG00000150975	ENST00000302326.4:c.1439G>T	22.37:g.28195093C>A	ENSP00000304956:p.Gly480Val						p.G480V	NM_002430	NP_002421	Q10571	MN1_HUMAN			1	2394	-			480					A9Z1V9	Missense_Mutation	SNP	ENST00000302326.4	37	c.1439G>T	CCDS42998.1	.	.	.	.	.	.	.	.	.	.	C	13.93	2.384803	0.42308	.	.	ENSG00000169184	ENST00000302326	T	0.47869	0.83	4.54	3.44	0.39384	.	0.220885	0.31156	N	0.008158	T	0.36468	0.0968	N	0.14661	0.345	0.47245	D	0.999369	D	0.54047	0.964	P	0.49192	0.602	T	0.21759	-1.0236	10	0.46703	T	0.11	-14.7531	11.1137	0.48247	0.0:0.6186:0.3814:0.0	.	480	Q10571	MN1_HUMAN	V	480	ENSP00000304956:G480V	ENSP00000304956:G480V	G	-	2	0	MN1	26525093	0.998000	0.40836	0.974000	0.42286	0.737000	0.42083	3.160000	0.50739	2.074000	0.62210	0.313000	0.20887	GGC		0.682	MN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320737.1	NM_002430		4	19	1	0	0.00909568	0.009096	0.00941286	4	19				
AP1B1	162	broad.mit.edu	37	22	29726681	29726681	+	Missense_Mutation	SNP	C	C	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr22:29726681C>T	ENST00000405198.1	-	19	2573	c.2542G>A	c.(2542-2544)Gcc>Acc	p.A848T	AP1B1_ENST00000402502.1_Missense_Mutation_p.A841T|AP1B1_ENST00000356015.2_Missense_Mutation_p.A841T|AP1B1_ENST00000317368.7_Missense_Mutation_p.A821T|AP1B1_ENST00000432560.2_Missense_Mutation_p.A841T|AP1B1_ENST00000357586.2_Missense_Mutation_p.A848T|SNORD125_ENST00000459538.1_RNA|AP1B1_ENST00000415447.1_Missense_Mutation_p.A841T|AP1B1_ENST00000472057.1_5'Flank			Q10567	AP1B1_HUMAN	adaptor-related protein complex 1, beta 1 subunit	848					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	clathrin adaptor complex (GO:0030131)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|trans-Golgi network membrane (GO:0032588)	protein kinase binding (GO:0019901)|protein transporter activity (GO:0008565)|transporter activity (GO:0005215)			endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						TTCCATGTGGCCAGGAACATC	0.612																																							uc003afj.2		NA																	0				ovary(1)|skin(1)	2						c.(2542-2544)GCC>ACC		adaptor-related protein complex 1 beta 1 subunit							63.0	52.0	56.0					22																	29726681		2203	4300	6503	SO:0001583	missense	162				endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane	protein binding|protein transporter activity	g.chr22:29726681C>T	L13939	CCDS13855.1, CCDS13856.1, CCDS13856.2, CCDS54515.1	22q12.2	2010-06-18			ENSG00000100280	ENSG00000100280			554	protein-coding gene	gene with protein product		600157		ADTB1, CLAPB2		7987321, 8812422	Standard	NM_145730		Approved	BAM22, AP105A	uc003afj.3	Q10567	OTTHUMG00000151109	ENST00000405198.1:c.2542G>A	22.37:g.29726681C>T	ENSP00000384194:p.Ala848Thr					AP1B1_uc003afi.2_Missense_Mutation_p.A841T|AP1B1_uc003afk.2_Missense_Mutation_p.A841T|AP1B1_uc003afl.2_Missense_Mutation_p.A821T|AP1B1_uc003afh.2_Missense_Mutation_p.A45T|AP1B1_uc011ako.1_Missense_Mutation_p.A401T	p.A848T	NM_001127	NP_001118	Q10567	AP1B1_HUMAN			20	2726	-			848					C9JRD1|F8WDL0|P78436|Q20WL3|Q86X54	Missense_Mutation	SNP	ENST00000405198.1	37	c.2542G>A	CCDS13855.1	.	.	.	.	.	.	.	.	.	.	C	12.24	1.879581	0.33162	.	.	ENSG00000100280	ENST00000357586;ENST00000356015;ENST00000432560;ENST00000405198;ENST00000317368;ENST00000402502;ENST00000415447	T;T;T;T;T;T;T	0.22539	1.97;1.96;1.95;1.97;1.95;1.95;1.95	4.38	4.38	0.52667	Coatomer/calthrin adaptor appendage, C-terminal subdomain (1);Clathrin adaptor, beta-adaptin, appendage, C-terminal subdomain (1);Beta2-adaptin/TATA-box binding, C-terminal (1);	0.051192	0.85682	D	0.000000	T	0.35828	0.0945	L	0.46157	1.445	0.80722	D	1	B;B;B;B;D;B	0.71674	0.054;0.374;0.308;0.25;0.998;0.067	B;B;B;B;D;B	0.65874	0.03;0.04;0.069;0.067;0.939;0.033	T	0.04178	-1.0971	10	0.17832	T	0.49	-20.3985	16.7082	0.85378	0.0:1.0:0.0:0.0	.	401;821;841;848;841;45	B4DS79;F8WDL0;Q10567-2;Q10567;Q10567-3;Q7Z3M8	.;.;.;AP1B1_HUMAN;.;.	T	848;841;841;848;821;841;841	ENSP00000350199:A848T;ENSP00000348297:A841T;ENSP00000400065:A841T;ENSP00000384194:A848T;ENSP00000319361:A821T;ENSP00000386071:A841T;ENSP00000387612:A841T	ENSP00000319361:A821T	A	-	1	0	AP1B1	28056681	1.000000	0.71417	1.000000	0.80357	0.103000	0.19146	5.883000	0.69721	2.273000	0.75805	0.563000	0.77884	GCC		0.612	AP1B1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321374.1	NM_001127		10	24	0	0	0	0.001368	0	10	24				
SYN3	8224	broad.mit.edu	37	22	33402572	33402572	+	Missense_Mutation	SNP	G	G	C			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr22:33402572G>C	ENST00000358763.2	-	2	318	c.76C>G	c.(76-78)Caa>Gaa	p.Q26E	SYN3_ENST00000332840.5_Missense_Mutation_p.Q26E	NM_001135774.1	NP_001129246.1	O14994	SYN3_HUMAN	synapsin III	26	A.				neurotransmitter secretion (GO:0007269)|regulation of synaptic transmission, GABAergic (GO:0032228)	cell junction (GO:0030054)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672)	ATP binding (GO:0005524)|catalytic activity (GO:0003824)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						TCTGGGCGTTGCAGGTCCGTC	0.602																																							uc003amx.2		NA																	0				skin(1)	1						c.(76-78)CAA>GAA		synapsin III isoform IIIa							107.0	112.0	110.0					22																	33402572		2203	4300	6503	SO:0001583	missense	8224				neurotransmitter secretion	cell junction|synaptic vesicle membrane	ATP binding|ligase activity	g.chr22:33402572G>C	AF046873	CCDS13908.1	22q12.3	2008-05-14			ENSG00000185666	ENSG00000185666			11496	protein-coding gene	gene with protein product		602705				9539796	Standard	NM_003490		Approved		uc003amx.3	O14994	OTTHUMG00000031004	ENST00000358763.2:c.76C>G	22.37:g.33402572G>C	ENSP00000351614:p.Gln26Glu					SYN3_uc003amy.2_Missense_Mutation_p.Q26E|SYN3_uc003amz.2_Missense_Mutation_p.Q26E	p.Q26E	NM_003490	NP_003481	O14994	SYN3_HUMAN			1	235	-			26			A.		B1B1F9	Missense_Mutation	SNP	ENST00000358763.2	37	c.76C>G	CCDS13908.1	.	.	.	.	.	.	.	.	.	.	G	18.20	3.570370	0.65765	.	.	ENSG00000185666	ENST00000358763;ENST00000332840;ENST00000390686;ENST00000441821;ENST00000412575	T;T	0.35973	1.28;1.28	5.09	5.09	0.68999	.	0.166180	0.41396	D	0.000887	T	0.43322	0.1242	M	0.62723	1.935	0.54753	D	0.99998	B;B;B	0.23735	0.09;0.089;0.09	B;B;B	0.31442	0.13;0.092;0.13	T	0.35425	-0.9789	10	0.44086	T	0.13	-3.8464	18.8654	0.92290	0.0:0.0:1.0:0.0	.	26;26;26	Q17R54;B1B1F9;O14994	.;.;SYN3_HUMAN	E	26	ENSP00000351614:Q26E;ENSP00000330219:Q26E	ENSP00000330219:Q26E	Q	-	1	0	SYN3	31732572	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	9.671000	0.98627	2.509000	0.84616	0.557000	0.71058	CAA		0.602	SYN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075892.4			50	84	0	0	0	0.00361	0	50	84				
TRIOBP	11078	broad.mit.edu	37	22	38111839	38111839	+	Missense_Mutation	SNP	A	A	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr22:38111839A>T	ENST00000406386.3	+	6	781	c.526A>T	c.(526-528)Agg>Tgg	p.R176W		NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	176					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)					GATGATCCCGAGGAGGCCTCG	0.622																																							uc003atr.2		NA																	0				central_nervous_system(1)	1						c.(526-528)AGG>TGG		TRIO and F-actin binding protein isoform 6							31.0	39.0	36.0					22																	38111839		1908	4105	6013	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.chr22:38111839A>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.526A>T	22.37:g.38111839A>T	ENSP00000384312:p.Arg176Trp					TRIOBP_uc003atu.2_Missense_Mutation_p.R4W|TRIOBP_uc003atq.1_Missense_Mutation_p.R176W|TRIOBP_uc003ats.1_Missense_Mutation_p.R4W	p.R176W	NM_001039141	NP_001034230	Q9H2D6	TARA_HUMAN			6	797	+	Melanoma(58;0.0574)		176					B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	Missense_Mutation	SNP	ENST00000406386.3	37	c.526A>T	CCDS43015.1	.	.	.	.	.	.	.	.	.	.	A	12.40	1.927317	0.34002	.	.	ENSG00000100106	ENST00000406386;ENST00000417174	T	0.28666	1.6	4.26	0.865	0.19074	.	.	.	.	.	T	0.38348	0.1037	L	0.27053	0.805	0.20638	N	0.999878	D	0.76494	0.999	D	0.70716	0.97	T	0.26916	-1.0089	9	0.72032	D	0.01	.	10.2606	0.43425	0.609:0.391:0.0:0.0	.	176	Q9H2D6	TARA_HUMAN	W	176	ENSP00000384312:R176W	ENSP00000384312:R176W	R	+	1	2	TRIOBP	36441785	0.007000	0.16637	0.088000	0.20740	0.001000	0.01503	-0.377000	0.07456	0.256000	0.21614	-0.406000	0.06334	AGG		0.622	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319439.2			6	24	0	0	0	0.001984	0	6	24				
WBP2NL	164684	broad.mit.edu	37	22	42422803	42422803	+	Missense_Mutation	SNP	G	G	A	rs532554452	byFrequency	TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr22:42422803G>A	ENST00000328823.9	+	6	579	c.548G>A	c.(547-549)gGa>gAa	p.G183E	WBP2NL_ENST00000543212.1_Missense_Mutation_p.G109E	NM_152613.2	NP_689826.2	Q6ICG8	WBP2L_HUMAN	WBP2 N-terminal like	183	10 X 7 AA tandem repeat of Y-G-X-P-P-X-G.|Gly-rich.				egg activation (GO:0007343)|male pronucleus assembly (GO:0035039)|meiotic nuclear division (GO:0007126)	perinuclear theca (GO:0033011)	WW domain binding (GO:0050699)			breast(2)|large_intestine(3)|lung(5)|ovary(3)|prostate(1)	14						GCAGGATATGGAGCCCCACCT	0.507													G|||	21	0.00419329	0.0	0.0	5008	,	,		15517	0.0		0.0	False		,,,				2504	0.0215						uc011ape.1		NA																	0				ovary(2)	2						c.(547-549)GGA>GAA		WBP2 N-terminal like							87.0	101.0	96.0					22																	42422803		2203	4300	6503	SO:0001583	missense	164684				egg activation|male pronucleus assembly|meiosis	perinuclear theca	WW domain binding	g.chr22:42422803G>A	BC022546	CCDS14029.1	22q13.2	2007-07-18			ENSG00000183066	ENSG00000183066			28389	protein-coding gene	gene with protein product	"""postacrosomal sheath WW domain-binding protein"""	610981				17289678	Standard	NM_152613		Approved	FLJ26145, MGC26816, PAWP	uc003bbt.3	Q6ICG8	OTTHUMG00000151270	ENST00000328823.9:c.548G>A	22.37:g.42422803G>A	ENSP00000332983:p.Gly183Glu					WBP2NL_uc003bbt.2_Missense_Mutation_p.G183E|WBP2NL_uc011apk.1_Missense_Mutation_p.G55E|WBP2NL_uc003bbu.2_RNA|WBP2NL_uc003bbv.1_RNA	p.G183E	NM_152613	NP_689826	Q6ICG8	WBP2L_HUMAN			7	564	+			183			10 X 7 AA tandem repeat of Y-G-X-P-P-X-G.|Gly-rich.|2.		A3KFF7|A8MSG5|B3KXX4|Q8TBF0|Q8TBF3	Missense_Mutation	SNP	ENST00000328823.9	37	c.548G>A	CCDS14029.1	.	.	.	.	.	.	.	.	.	.	G	10.59	1.392521	0.25118	.	.	ENSG00000183066	ENST00000328823;ENST00000543212	T;T	0.31510	1.49;1.49	4.19	4.19	0.49359	WW-domain-binding protein (1);	.	.	.	.	T	0.45518	0.1346	M	0.72894	2.215	0.09310	N	1	D	0.56287	0.975	P	0.55161	0.77	T	0.35822	-0.9773	9	0.16420	T	0.52	.	14.3781	0.66892	0.0:0.0:1.0:0.0	.	183	Q6ICG8	WBP2L_HUMAN	E	183;109	ENSP00000332983:G183E;ENSP00000442447:G109E	ENSP00000332983:G183E	G	+	2	0	WBP2NL	40752749	0.283000	0.24277	0.008000	0.14137	0.008000	0.06430	1.134000	0.31442	2.338000	0.79540	0.585000	0.79938	GGA		0.507	WBP2NL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322037.1	NM_152613		4	135	0	0	0	0.009096	0	4	135				
NAGA	4668	broad.mit.edu	37	22	42464492	42464492	+	Missense_Mutation	SNP	G	G	A	rs376933189		TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr22:42464492G>A	ENST00000396398.3	-	2	635	c.103C>T	c.(103-105)Cgc>Tgc	p.R35C	NAGA_ENST00000402937.1_Missense_Mutation_p.R35C|NAGA_ENST00000403363.1_Missense_Mutation_p.R35C	NM_000262.2	NP_000253.1	P17050	NAGAB_HUMAN	N-acetylgalactosaminidase, alpha-	35					carbohydrate catabolic process (GO:0016052)|glycolipid catabolic process (GO:0019377)|glycoside catabolic process (GO:0016139)|glycosylceramide catabolic process (GO:0046477)|oligosaccharide metabolic process (GO:0009311)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	alpha-galactosidase activity (GO:0004557)|alpha-N-acetylgalactosaminidase activity (GO:0008456)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	11						CAGCGGAAGCGTTCCCAGGCC	0.587																																							uc003bbx.2		NA																	0				central_nervous_system(1)	1						c.(103-105)CGC>TGC		alpha-N-acetylgalactosaminidase precursor		G	CYS/ARG	0,4406		0,0,2203	136.0	126.0	130.0		103	3.7	1.0	22		130	2,8598	2.2+/-6.3	0,2,4298	no	missense	NAGA	NM_000262.2	180	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging	35/412	42464492	2,13004	2203	4300	6503	SO:0001583	missense	4668				glycoside catabolic process|glycosylceramide catabolic process|oligosaccharide metabolic process	lysosome	alpha-galactosidase activity|alpha-N-acetylgalactosaminidase activity|cation binding|protein homodimerization activity	g.chr22:42464492G>A		CCDS14030.1	22q13.2	2010-07-09			ENSG00000198951	ENSG00000198951	3.2.1.49		7631	protein-coding gene	gene with protein product		104170					Standard	NM_000262		Approved	D22S674	uc003bbw.4	P17050	OTTHUMG00000151276	ENST00000396398.3:c.103C>T	22.37:g.42464492G>A	ENSP00000379680:p.Arg35Cys					NAGA_uc003bby.2_Missense_Mutation_p.R35C|NAGA_uc003bbw.3_Missense_Mutation_p.R35C	p.R35C	NM_000262	NP_000253	P17050	NAGAB_HUMAN			3	240	-			35						Missense_Mutation	SNP	ENST00000396398.3	37	c.103C>T	CCDS14030.1	.	.	.	.	.	.	.	.	.	.	G	19.35	3.811076	0.70797	0.0	2.33E-4	ENSG00000198951	ENST00000396398;ENST00000403363;ENST00000402937	D;D;D	0.99803	-6.82;-6.82;-6.82	4.75	3.66	0.41972	Aldolase-type TIM barrel (1);Glycoside hydrolase, superfamily (1);	0.000000	0.85682	D	0.000000	D	0.99474	0.9813	L	0.43554	1.36	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.97427	1.0013	10	0.56958	D	0.05	-21.0065	12.3898	0.55352	0.0:0.0:0.6192:0.3808	.	35	P17050	NAGAB_HUMAN	C	35	ENSP00000379680:R35C;ENSP00000385283:R35C;ENSP00000384603:R35C	ENSP00000379680:R35C	R	-	1	0	NAGA	40794438	0.997000	0.39634	1.000000	0.80357	0.977000	0.68977	1.159000	0.31749	2.205000	0.71048	0.298000	0.19748	CGC		0.587	NAGA-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322056.1			10	106	0	0	0	0.008291	0	10	106				
WNT7B	7477	broad.mit.edu	37	22	46345799	46345799	+	Splice_Site	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr22:46345799C>A	ENST00000339464.4	-	2	673		c.e2+1		WNT7B_ENST00000410089.1_Splice_Site|WNT7B_ENST00000410058.1_Splice_Site|WNT7B_ENST00000409496.3_Splice_Site	NM_058238.2	NP_478679.1	P56706	WNT7B_HUMAN	wingless-type MMTV integration site family, member 7B						activation of JUN kinase activity (GO:0007257)|anatomical structure regression (GO:0060033)|apoptotic process involved in patterning of blood vessels (GO:1902262)|canonical Wnt signaling pathway (GO:0060070)|cell fate commitment (GO:0045165)|cellular metabolic process (GO:0044237)|cellular response to retinoic acid (GO:0071300)|central nervous system vasculogenesis (GO:0022009)|chorio-allantoic fusion (GO:0060710)|developmental growth involved in morphogenesis (GO:0060560)|embryonic organ development (GO:0048568)|embryonic placenta morphogenesis (GO:0060669)|establishment or maintenance of polarity of embryonic epithelium (GO:0016332)|fibroblast proliferation (GO:0048144)|forebrain regionalization (GO:0021871)|homeostatic process (GO:0042592)|in utero embryonic development (GO:0001701)|inner medullary collecting duct development (GO:0072061)|lens fiber cell development (GO:0070307)|lobar bronchus development (GO:0060482)|lung development (GO:0030324)|lung epithelium development (GO:0060428)|lung morphogenesis (GO:0060425)|lung-associated mesenchyme development (GO:0060484)|mammary gland epithelium development (GO:0061180)|metanephric collecting duct development (GO:0072205)|metanephric epithelium development (GO:0072207)|metanephric loop of Henle development (GO:0072236)|metanephros morphogenesis (GO:0003338)|negative regulation of smoothened signaling pathway (GO:0045879)|neuron differentiation (GO:0030182)|neuron projection morphogenesis (GO:0048812)|odontogenesis of dentin-containing tooth (GO:0042475)|outer medullary collecting duct development (GO:0072060)|oxygen homeostasis (GO:0032364)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of JNK cascade (GO:0046330)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of cell projection size (GO:0032536)|renal inner medulla development (GO:0072053)|renal outer medulla development (GO:0072054)|response to glucocorticoid (GO:0051384)|smooth muscle cell differentiation (GO:0051145)|stem cell proliferation (GO:0072089)|synapse organization (GO:0050808)|trachea cartilage morphogenesis (GO:0060535)|Wnt signaling pathway (GO:0016055)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)			endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	19		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|LUAD - Lung adenocarcinoma(64;0.247)		GGCGCCCTTACCTACTCGGAG	0.637																																							uc003bgo.2		NA																	0				lung(1)	1						c.e2+1		wingless-type MMTV integration site family,							26.0	24.0	24.0					22																	46345799		2203	4300	6503	SO:0001630	splice_region_variant	7477				activation of JUN kinase activity|anterior/posterior pattern formation|axis specification|axonogenesis|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|central nervous system vasculogenesis|chorio-allantoic fusion|developmental growth involved in morphogenesis|embryonic placenta morphogenesis|establishment or maintenance of polarity of embryonic epithelium|fibroblast proliferation|forebrain regionalization|inner medullary collecting duct development|lens fiber cell development|lobar bronchus development|lung epithelium development|lung morphogenesis|lung-associated mesenchyme development|mammary gland epithelium development|metanephric collecting duct development|metanephric loop of Henle development|metanephros morphogenesis|negative regulation of smoothened signaling pathway|outer medullary collecting duct development|oxygen homeostasis|positive regulation of JNK cascade|positive regulation of osteoblast differentiation|renal inner medulla development|renal outer medulla development|stem cell proliferation|synapse organization|trachea cartilage morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|frizzled binding|signal transducer activity	g.chr22:46345799C>A	AF416743	CCDS33667.1	22q13	2013-02-28			ENSG00000188064	ENSG00000188064		"""Wingless-type MMTV integration sites"", ""Endogenous ligands"""	12787	protein-coding gene	gene with protein product		601967				8168088, 9284940, 11562755	Standard	NM_058238		Approved		uc003bgo.2	P56706	OTTHUMG00000154636	ENST00000339464.4:c.298+1G>T	22.37:g.46345799C>A						WNT7B_uc010haa.2_Splice_Site_p.G104_splice	p.G100_splice	NM_058238	NP_478679	P56706	WNT7B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|LUAD - Lung adenocarcinoma(64;0.247)	2	672	-		Ovarian(80;0.00965)|all_neural(38;0.0416)						B8A596|Q96Q12	Splice_Site	SNP	ENST00000339464.4	37	c.298_splice	CCDS33667.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.200359	0.79015	.	.	ENSG00000188064	ENST00000339464;ENST00000410089;ENST00000409496;ENST00000410058;ENST00000428540	.	.	.	3.81	3.81	0.43845	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.8359	0.70183	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	WNT7B	44724463	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	7.358000	0.79466	1.956000	0.56807	0.555000	0.69702	.		0.637	WNT7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336418.1	NM_058238	Intron	14	5	1	0	3.27435e-08	0.00245	3.86864e-08	14	5				
IL17REL	400935	broad.mit.edu	37	22	50439231	50439231	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr22:50439231C>A	ENST00000389983.2	-	5	435	c.171G>T	c.(169-171)caG>caT	p.Q57H	IL17REL_ENST00000341280.5_Missense_Mutation_p.Q57H	NM_001001694.2	NP_001001694.2	Q6ZVW7	I17EL_HUMAN	interleukin 17 receptor E-like	57										endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)	6		all_cancers(38;5.53e-07)|all_epithelial(38;3.84e-06)|all_lung(38;0.00208)|Breast(42;0.0104)|Lung NSC(38;0.0199)|Ovarian(80;0.0907)|Lung SC(80;0.236)		BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)		CCCACACGCTCTGACACTGCG	0.701																																							uc003bje.1		NA																	0				pancreas(1)	1						c.(169-171)CAG>CAT		interleukin 17 receptor E-like							16.0	19.0	18.0					22																	50439231		2198	4293	6491	SO:0001583	missense	400935							g.chr22:50439231C>A	AK123987	CCDS33679.1	22q13.33	2009-01-13			ENSG00000188263	ENSG00000188263			33808	protein-coding gene	gene with protein product		613414					Standard	NM_001001694		Approved	FLJ41993	uc003bje.1	Q6ZVW7	OTTHUMG00000150242	ENST00000389983.2:c.171G>T	22.37:g.50439231C>A	ENSP00000374633:p.Gln57His						p.Q57H	NM_001001694	NP_001001694	Q6ZVW7	I17EL_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)	5	403	-		all_cancers(38;5.53e-07)|all_epithelial(38;3.84e-06)|all_lung(38;0.00208)|Breast(42;0.0104)|Lung NSC(38;0.0199)|Ovarian(80;0.0907)|Lung SC(80;0.236)	57					A6NCN4|A6PVC1	Missense_Mutation	SNP	ENST00000389983.2	37	c.171G>T	CCDS33679.1	.	.	.	.	.	.	.	.	.	.	c	10.94	1.493521	0.26774	.	.	ENSG00000188263	ENST00000389983;ENST00000341280	T;T	0.14766	2.48;2.48	3.68	-4.62	0.03370	.	1.193640	0.06290	U	0.699053	T	0.08447	0.0210	L	0.33485	1.01	0.09310	N	1	B	0.23806	0.091	B	0.24848	0.056	T	0.40098	-0.9581	10	0.41790	T	0.15	.	1.4069	0.02283	0.1546:0.3399:0.3033:0.2023	.	57	Q6ZVW7	I17EL_HUMAN	H	57	ENSP00000374633:Q57H;ENSP00000342520:Q57H	ENSP00000342520:Q57H	Q	-	3	2	IL17REL	48781358	0.000000	0.05858	0.016000	0.15963	0.135000	0.20990	-1.018000	0.03626	-0.660000	0.05352	0.651000	0.88453	CAG		0.701	IL17REL-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317011.1	NM_001001694		3	20	1	0	0.00024832	0.009096	0.00026826	3	20				
CNTN4	152330	broad.mit.edu	37	3	2924894	2924894	+	Missense_Mutation	SNP	G	G	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr3:2924894G>A	ENST00000397461.1	+	8	1102	c.718G>A	c.(718-720)Gga>Aga	p.G240R	CNTN4_ENST00000418658.1_Missense_Mutation_p.G240R|CNTN4_ENST00000427331.1_Missense_Mutation_p.G240R|CNTN4_ENST00000358480.3_Missense_Mutation_p.G21R	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	240	Ig-like C2-type 3.				axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis (GO:0007409)|brain development (GO:0007420)|negative regulation of neuron differentiation (GO:0045665)|nervous system development (GO:0007399)|neuron cell-cell adhesion (GO:0007158)|neuron projection development (GO:0031175)|regulation of synaptic plasticity (GO:0048167)	anchored component of membrane (GO:0031225)|axon (GO:0030424)|extracellular region (GO:0005576)|plasma membrane (GO:0005886)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		GACTGCAAAAGGAGCAACGGT	0.438																																							uc003bpc.2		NA																	0				large_intestine(2)|ovary(2)|lung(1)|central_nervous_system(1)|pancreas(1)	7						c.(718-720)GGA>AGA		contactin 4 isoform a precursor							94.0	101.0	99.0					3																	2924894		1945	4158	6103	SO:0001583	missense	152330				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding	g.chr3:2924894G>A	AW665944	CCDS2558.1, CCDS43041.1	3p26.3	2013-02-11			ENSG00000144619	ENSG00000144619		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2174	protein-coding gene	gene with protein product		607280				8586965, 12202991	Standard	NM_175607		Approved	BIG-2	uc003bpc.3	Q8IWV2	OTTHUMG00000119031	ENST00000397461.1:c.718G>A	3.37:g.2924894G>A	ENSP00000380602:p.Gly240Arg					CNTN4_uc003bpb.1_Intron|CNTN4_uc003bpd.1_Missense_Mutation_p.G240R	p.G240R	NM_175607	NP_783200	Q8IWV2	CNTN4_HUMAN		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)	8	939	+		Ovarian(110;0.156)	240			Ig-like C2-type 3.		B2RAX3|Q8IX14|Q8TC35	Missense_Mutation	SNP	ENST00000397461.1	37	c.718G>A	CCDS43041.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.161693	0.78226	.	.	ENSG00000144619	ENST00000418658;ENST00000397461;ENST00000427331;ENST00000358480	T;T;T;T	0.81330	-1.48;-1.48;-1.48;-1.48	4.74	4.74	0.60224	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.070090	0.56097	D	0.000027	D	0.91918	0.7441	M	0.91717	3.235	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.85130	0.997;0.997	D	0.93862	0.7154	10	0.87932	D	0	.	18.1134	0.89542	0.0:0.0:1.0:0.0	.	240;240	B3KTK4;Q8IWV2	.;CNTN4_HUMAN	R	240;240;240;21	ENSP00000396010:G240R;ENSP00000380602:G240R;ENSP00000413642:G240R;ENSP00000351267:G21R	ENSP00000351267:G21R	G	+	1	0	CNTN4	2899894	1.000000	0.71417	0.595000	0.28798	0.902000	0.53008	5.745000	0.68672	2.350000	0.79820	0.655000	0.94253	GGA		0.438	CNTN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239236.2			17	12	0	0	0	0.008871	0	17	12				
LRRN1	57633	broad.mit.edu	37	3	3886635	3886635	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr3:3886635C>A	ENST00000319331.3	+	2	1071	c.310C>A	c.(310-312)Caa>Aaa	p.Q104K	SUMF1_ENST00000534863.1_Intron	NM_020873.5	NP_065924.3	Q6UXK5	LRRN1_HUMAN	leucine rich repeat neuronal 1	104						integral component of membrane (GO:0016021)				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	26				Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)		AGATTTCTCCCAAAACAACTT	0.438																																							uc003bpt.3		NA																	0				central_nervous_system(1)	1						c.(310-312)CAA>AAA		leucine rich repeat neuronal 1 precursor							57.0	57.0	57.0					3																	3886635		2203	4300	6503	SO:0001583	missense	57633					integral to membrane		g.chr3:3886635C>A	AB040930	CCDS33685.1	3p26.2	2013-01-11			ENSG00000175928	ENSG00000175928		"""Immunoglobulin superfamily / I-set domain containing"""	20980	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 3"""					10819331	Standard	NM_020873		Approved	FIGLER3	uc003bpt.4	Q6UXK5	OTTHUMG00000154934	ENST00000319331.3:c.310C>A	3.37:g.3886635C>A	ENSP00000314901:p.Gln104Lys					SUMF1_uc003bps.1_Intron	p.Q104K	NM_020873	NP_065924	Q6UXK5	LRRN1_HUMAN		Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)	2	1071	+			104			LRR 2.|Extracellular (Potential).		Q3LID5|Q8IYV5|Q9H8V1|Q9P231	Missense_Mutation	SNP	ENST00000319331.3	37	c.310C>A	CCDS33685.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.869315	0.91587	.	.	ENSG00000175928	ENST00000319331	T	0.24350	1.86	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.40570	0.1122	N	0.26092	0.79	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	T	0.06972	-1.0797	10	0.30854	T	0.27	.	19.976	0.97309	0.0:1.0:0.0:0.0	.	104	Q6UXK5	LRRN1_HUMAN	K	104	ENSP00000314901:Q104K	ENSP00000314901:Q104K	Q	+	1	0	LRRN1	3861635	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.755000	0.85180	2.713000	0.92767	0.655000	0.94253	CAA		0.438	LRRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337704.2	NM_020873		10	26	1	0	9.05144e-12	0.001855	1.1546e-11	10	26				
LRRN1	57633	broad.mit.edu	37	3	3887802	3887802	+	Missense_Mutation	SNP	G	G	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr3:3887802G>A	ENST00000319331.3	+	2	2238	c.1477G>A	c.(1477-1479)Gac>Aac	p.D493N	SUMF1_ENST00000534863.1_Intron	NM_020873.5	NP_065924.3	Q6UXK5	LRRN1_HUMAN	leucine rich repeat neuronal 1	493	Ig-like C2-type.					integral component of membrane (GO:0016021)				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	26				Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)		ACAAATTGAAGACTCAGGAAG	0.438																																							uc003bpt.3		NA																	0				central_nervous_system(1)	1						c.(1477-1479)GAC>AAC		leucine rich repeat neuronal 1 precursor							82.0	89.0	87.0					3																	3887802		2203	4300	6503	SO:0001583	missense	57633					integral to membrane		g.chr3:3887802G>A	AB040930	CCDS33685.1	3p26.2	2013-01-11			ENSG00000175928	ENSG00000175928		"""Immunoglobulin superfamily / I-set domain containing"""	20980	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 3"""					10819331	Standard	NM_020873		Approved	FIGLER3	uc003bpt.4	Q6UXK5	OTTHUMG00000154934	ENST00000319331.3:c.1477G>A	3.37:g.3887802G>A	ENSP00000314901:p.Asp493Asn					SUMF1_uc003bps.1_Intron	p.D493N	NM_020873	NP_065924	Q6UXK5	LRRN1_HUMAN		Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)	2	2238	+			493			Ig-like C2-type.|Extracellular (Potential).		Q3LID5|Q8IYV5|Q9H8V1|Q9P231	Missense_Mutation	SNP	ENST00000319331.3	37	c.1477G>A	CCDS33685.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.441019	0.83993	.	.	ENSG00000175928	ENST00000319331	T	0.80994	-1.44	5.69	5.69	0.88448	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.90916	0.7145	M	0.83692	2.655	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91085	0.4902	10	0.59425	D	0.04	.	19.8275	0.96624	0.0:0.0:1.0:0.0	.	493	Q6UXK5	LRRN1_HUMAN	N	493	ENSP00000314901:D493N	ENSP00000314901:D493N	D	+	1	0	LRRN1	3862802	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.787000	0.99055	2.684000	0.91462	0.650000	0.86243	GAC		0.438	LRRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337704.2	NM_020873		11	56	0	0	0	0.001368	0	11	56				
PRRT3	285368	broad.mit.edu	37	3	9991120	9991120	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr3:9991120C>A	ENST00000412055.1	-	2	809	c.680G>T	c.(679-681)gGt>gTt	p.G227V	PRRT3-AS1_ENST00000431558.1_RNA|PRRT3_ENST00000411976.2_Missense_Mutation_p.G227V	NM_207351.3	NP_997234.3	Q5FWE3	PRRT3_HUMAN	proline-rich transmembrane protein 3	227						integral component of membrane (GO:0016021)				NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(1)|skin(1)|stomach(2)	13						CTCAAACCCACCCTGTCCTTC	0.607																																							uc003bul.2		NA																	0					0						c.(679-681)GGT>GTT		proline-rich transmembrane protein 3 precursor							49.0	59.0	56.0					3																	9991120		2165	4273	6438	SO:0001583	missense	285368					integral to membrane		g.chr3:9991120C>A	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.680G>T	3.37:g.9991120C>A	ENSP00000392511:p.Gly227Val					CIDEC_uc003bto.2_Intron|PRRT3_uc003buk.2_RNA|PRRT3_uc003bum.2_Missense_Mutation_p.G227V	p.G227V	NM_207351	NP_997234	Q5FWE3	PRRT3_HUMAN			2	810	-			227			Extracellular (Potential).		Q49AD0|Q6UXY6|Q8NBC9	Missense_Mutation	SNP	ENST00000412055.1	37	c.680G>T	CCDS43049.1	.	.	.	.	.	.	.	.	.	.	C	9.703	1.155005	0.21371	.	.	ENSG00000163704	ENST00000412055;ENST00000411976	T;T	0.26067	2.13;1.76	3.73	1.89	0.25635	.	0.331224	0.21800	N	0.068921	T	0.22475	0.0542	L	0.34521	1.04	0.20638	N	0.999874	P;P	0.51351	0.944;0.825	P;B	0.50617	0.646;0.314	T	0.05225	-1.0898	9	.	.	.	0.0166	5.0739	0.14620	0.0:0.6691:0.2144:0.1166	.	227;227	Q5FWE3-3;Q5FWE3	.;PRRT3_HUMAN	V	227	ENSP00000392511:G227V;ENSP00000404512:G227V	.	G	-	2	0	PRRT3	9966120	0.000000	0.05858	0.005000	0.12908	0.256000	0.26092	-0.156000	0.10100	0.537000	0.28751	-0.142000	0.14014	GGT		0.607	PRRT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339322.1	NM_207351		27	28	1	0	4.87955e-14	0.005443	6.46974e-14	27	28				
ATP2B2	491	broad.mit.edu	37	3	10400455	10400455	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr3:10400455C>A	ENST00000352432.4	-	13	2125	c.2056G>T	c.(2056-2058)Gac>Tac	p.D686Y	ATP2B2_ENST00000397077.1_Missense_Mutation_p.D641Y|ATP2B2_ENST00000383800.4_Missense_Mutation_p.D641Y|ATP2B2_ENST00000360273.2_Missense_Mutation_p.D686Y|ATP2B2_ENST00000343816.4_Missense_Mutation_p.D672Y			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	686					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						TTGTCCCAGTCCGGCTCCGGG	0.632																																					Ovarian(125;1619 1709 15675 19819 38835)	Ovarian(125;1619 1709 15675 19819 38835)	uc003bvt.2		NA																	0				ovary(3)|skin(2)|central_nervous_system(1)	6						c.(2056-2058)GAC>TAC		plasma membrane calcium ATPase 2 isoform 1							69.0	56.0	60.0					3																	10400455		2203	4300	6503	SO:0001583	missense	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.chr3:10400455C>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.2056G>T	3.37:g.10400455C>A	ENSP00000324172:p.Asp686Tyr					ATP2B2_uc003bvv.2_Missense_Mutation_p.D641Y|ATP2B2_uc003bvw.2_Missense_Mutation_p.D641Y|ATP2B2_uc010hdo.2_Missense_Mutation_p.D391Y	p.D686Y	NM_001001331	NP_001001331	Q01814	AT2B2_HUMAN			14	2495	-			686			Cytoplasmic (Potential).		O00766|Q12994|Q16818	Missense_Mutation	SNP	ENST00000352432.4	37	c.2056G>T	CCDS33701.1	.	.	.	.	.	.	.	.	.	.	C	19.81	3.896942	0.72639	.	.	ENSG00000157087	ENST00000352432;ENST00000383800;ENST00000397077;ENST00000360273;ENST00000343816;ENST00000535386;ENST00000452124;ENST00000342354	T;T;T;T;T;T	0.72835	-0.69;-0.69;-0.69;-0.69;-0.69;-0.69	4.65	3.76	0.43208	ATPase, cation-transporting, domain N (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.150487	0.56097	D	0.000021	D	0.86859	0.6034	M	0.92555	3.32	0.58432	D	0.999991	D;D;P	0.71674	0.964;0.998;0.944	P;D;P	0.73708	0.621;0.981;0.903	D	0.89881	0.4030	10	0.87932	D	0	-30.6675	14.6523	0.68805	0.0:0.8536:0.1464:0.0	.	621;653;686	F5H7F7;Q4LE63;Q01814	.;.;AT2B2_HUMAN	Y	686;641;641;686;672;621;542;686	ENSP00000324172:D686Y;ENSP00000373311:D641Y;ENSP00000380267:D641Y;ENSP00000353414:D686Y;ENSP00000344677:D672Y;ENSP00000414854:D542Y	ENSP00000342954:D686Y	D	-	1	0	ATP2B2	10375455	0.978000	0.34361	0.997000	0.53966	0.988000	0.76386	2.281000	0.43452	0.928000	0.37168	0.491000	0.48974	GAC		0.632	ATP2B2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250576.2	NM_001683		17	53	1	0	5.45024e-15	0.00333	7.34218e-15	17	53				
ATP2B2	491	broad.mit.edu	37	3	10401723	10401723	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr3:10401723G>T	ENST00000352432.4	-	12	1813	c.1744C>A	c.(1744-1746)Cag>Aag	p.Q582K	ATP2B2_ENST00000397077.1_Missense_Mutation_p.Q537K|ATP2B2_ENST00000383800.4_Missense_Mutation_p.Q537K|ATP2B2_ENST00000360273.2_Missense_Mutation_p.Q582K|ATP2B2_ENST00000343816.4_Missense_Mutation_p.Q568K			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	582					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						TCGTAGTCCTGCTTCAGGTCC	0.607																																					Ovarian(125;1619 1709 15675 19819 38835)	Ovarian(125;1619 1709 15675 19819 38835)	uc003bvt.2		NA																	0				ovary(3)|skin(2)|central_nervous_system(1)	6						c.(1744-1746)CAG>AAG		plasma membrane calcium ATPase 2 isoform 1							79.0	67.0	71.0					3																	10401723		2203	4300	6503	SO:0001583	missense	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.chr3:10401723G>T	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.1744C>A	3.37:g.10401723G>T	ENSP00000324172:p.Gln582Lys					ATP2B2_uc003bvv.2_Missense_Mutation_p.Q537K|ATP2B2_uc003bvw.2_Missense_Mutation_p.Q537K|ATP2B2_uc010hdo.2_Missense_Mutation_p.Q287K	p.Q582K	NM_001001331	NP_001001331	Q01814	AT2B2_HUMAN			13	2183	-			582			Cytoplasmic (Potential).		O00766|Q12994|Q16818	Missense_Mutation	SNP	ENST00000352432.4	37	c.1744C>A	CCDS33701.1	.	.	.	.	.	.	.	.	.	.	G	11.63	1.695173	0.30052	.	.	ENSG00000157087	ENST00000352432;ENST00000383800;ENST00000397077;ENST00000360273;ENST00000343816;ENST00000535386;ENST00000452124;ENST00000342354	T;T;T;T;T;T	0.69926	-0.44;-0.44;-0.44;-0.44;-0.44;-0.44	4.93	4.93	0.64822	ATPase, cation-transporting, domain N (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.062767	0.64402	D	0.000009	T	0.45836	0.1362	N	0.16656	0.425	0.41915	D	0.990482	B;B;B	0.20164	0.042;0.0;0.001	B;B;B	0.20184	0.028;0.005;0.005	T	0.41233	-0.9520	10	0.02654	T	1	-28.2192	13.1599	0.59538	0.0:0.0:0.8403:0.1597	.	517;549;582	F5H7F7;Q4LE63;Q01814	.;.;AT2B2_HUMAN	K	582;537;537;582;568;517;438;582	ENSP00000324172:Q582K;ENSP00000373311:Q537K;ENSP00000380267:Q537K;ENSP00000353414:Q582K;ENSP00000344677:Q568K;ENSP00000414854:Q438K	ENSP00000342954:Q582K	Q	-	1	0	ATP2B2	10376723	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.440000	0.66563	2.272000	0.75746	0.591000	0.81541	CAG		0.607	ATP2B2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250576.2	NM_001683		33	37	1	0	5.71845e-15	0.005524	7.69322e-15	33	37				
NUP210	23225	broad.mit.edu	37	3	13441297	13441297	+	Nonsense_Mutation	SNP	G	G	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr3:13441297G>A	ENST00000254508.5	-	2	314	c.232C>T	c.(232-234)Cag>Tag	p.Q78*		NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa	78					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					ACTGCCTTCTGGGAGCACTGC	0.632																																							uc003bxv.1		NA																	0				ovary(3)|large_intestine(3)|skin(3)|pancreas(1)|liver(1)	11						c.(232-234)CAG>TAG		nucleoporin 210 precursor							53.0	57.0	56.0					3																	13441297		2203	4300	6503	SO:0001587	stop_gained	23225				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore		g.chr3:13441297G>A	AB020713	CCDS33704.1	3p25	2008-02-05			ENSG00000132182	ENSG00000132182			30052	protein-coding gene	gene with protein product		607703				2184032, 7504063	Standard	NM_024923		Approved	GP210, POM210, FLJ22389, KIAA0906	uc003bxv.1	Q8TEM1	OTTHUMG00000157268	ENST00000254508.5:c.232C>T	3.37:g.13441297G>A	ENSP00000254508:p.Gln78*						p.Q78*	NM_024923	NP_079199	Q8TEM1	PO210_HUMAN			2	315	-	all_neural(104;0.187)		78			Lumenal (Probable).		A6NN56|O94980|Q6NXG6|Q8NBJ1|Q9H6C8|Q9UFP3	Nonsense_Mutation	SNP	ENST00000254508.5	37	c.232C>T	CCDS33704.1	.	.	.	.	.	.	.	.	.	.	G	18.96	3.733398	0.69189	.	.	ENSG00000132182	ENST00000254508	.	.	.	4.39	4.39	0.52855	.	0.241291	0.43579	D	0.000549	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07813	T	0.8	-17.0956	16.099	0.81152	0.0:0.0:1.0:0.0	.	.	.	.	X	78	.	ENSP00000254508:Q78X	Q	-	1	0	NUP210	13416297	1.000000	0.71417	1.000000	0.80357	0.146000	0.21551	7.274000	0.78538	2.162000	0.67917	0.455000	0.32223	CAG		0.632	NUP210-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340085.1	NM_024923		46	53	0	0	0	0.00361	0	46	53				
ZFYVE20	64145	broad.mit.edu	37	3	15123931	15123931	+	Silent	SNP	C	C	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr3:15123931C>T	ENST00000253699.3	-	9	1396	c.783G>A	c.(781-783)aaG>aaA	p.K261K	ZFYVE20_ENST00000435849.3_Intron|ZFYVE20_ENST00000449964.2_Intron|ZFYVE20_ENST00000476527.2_Silent_p.K261K	NM_022340.2	NP_071735.2	Q9H1K0	RBNS5_HUMAN	zinc finger, FYVE domain containing 20	261	Necessary for the correct targeting to endosomes.				blood coagulation (GO:0007596)|endosomal transport (GO:0016197)|protein transport (GO:0015031)	endosome (GO:0005768)|endosome membrane (GO:0010008)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)			NS(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|skin(3)|stomach(1)|urinary_tract(2)	26						GCTGCTCTCTCTTGAGCAGCG	0.542																																							uc003bzm.1		NA																	0				skin(2)	2						c.(781-783)AAG>AAA		FYVE-finger-containing Rab5 effector protein							154.0	127.0	136.0					3																	15123931		2203	4300	6503	SO:0001819	synonymous_variant	64145				blood coagulation|endosome transport|protein transport	early endosome membrane|plasma membrane	protein binding|zinc ion binding	g.chr3:15123931C>T	AY009133	CCDS2623.1	3p25.1	2014-01-15			ENSG00000131381	ENSG00000131381		"""Zinc fingers, FYVE domain containing"""	20759	protein-coding gene	gene with protein product		609511				11062261	Standard	XR_427283		Approved	Rabenosyn-5	uc003bzm.1	Q9H1K0	OTTHUMG00000129860	ENST00000253699.3:c.783G>A	3.37:g.15123931C>T						ZFYVE20_uc010hek.1_Silent_p.K261K|ZFYVE20_uc011avn.1_Intron	p.K261K	NM_022340	NP_071735	Q9H1K0	RBNS5_HUMAN			9	1397	-			261			Necessary for the correct targeting to endosomes.		B4DWY8|C9J4P5|Q3KP30|Q59EY8|Q8NAQ1	Silent	SNP	ENST00000253699.3	37	c.783G>A	CCDS2623.1																																																																																				0.542	ZFYVE20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252102.2	NM_022340		11	55	0	0	0	0.001855	0	11	55				
KAT2B	8850	broad.mit.edu	37	3	20161127	20161127	+	Nonsense_Mutation	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr3:20161127C>A	ENST00000263754.4	+	8	1643	c.1188C>A	c.(1186-1188)taC>taA	p.Y396*		NM_003884.4	NP_003875.3	Q92831	KAT2B_HUMAN	K(lysine) acetyltransferase 2B	396					cell cycle arrest (GO:0007050)|cellular response to insulin stimulus (GO:0032869)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|gene expression (GO:0010467)|histone H3 acetylation (GO:0043966)|histone H3-K9 acetylation (GO:0043970)|internal peptidyl-lysine acetylation (GO:0018393)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|Notch signaling pathway (GO:0007219)|peptidyl-lysine acetylation (GO:0018394)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein acetylation (GO:0006473)|regulation of protein ADP-ribosylation (GO:0010835)|rhythmic process (GO:0048511)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	A band (GO:0031672)|actomyosin (GO:0042641)|Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|I band (GO:0031674)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)	acetyltransferase activity (GO:0016407)|cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|histone acetyltransferase activity (GO:0004402)|histone deacetylase binding (GO:0042826)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|protein complex binding (GO:0032403)|protein kinase binding (GO:0019901)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|transcription factor binding (GO:0008134)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	40						CAATTTCATACAATTCAACCT	0.488																																							uc003cbq.2		NA																	0				ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.(1186-1188)TAC>TAA		K(lysine) acetyltransferase 2B							111.0	104.0	106.0					3																	20161127		2203	4300	6503	SO:0001587	stop_gained	8850				cell cycle arrest|cellular response to insulin stimulus|chromatin remodeling|histone H3 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|negative regulation of cell proliferation|transcription initiation from RNA polymerase I promoter	Ada2/Gcn5/Ada3 transcription activator complex|chromatin remodeling complex|PCAF complex	cyclin-dependent protein kinase inhibitor activity|histone acetyltransferase activity|histone deacetylase binding|protein kinase binding|transcription coactivator activity|transcription factor binding	g.chr3:20161127C>A	U57316	CCDS2634.1	3p24	2011-07-01	2008-07-04	2008-07-04	ENSG00000114166	ENSG00000114166		"""Chromatin-modifying enzymes / K-acetyltransferases"""	8638	protein-coding gene	gene with protein product		602303	"""p300/CBP-associated factor"""	PCAF		8684459, 9722949	Standard	NM_003884		Approved	P/CAF, GCN5, GCN5L	uc003cbq.3	Q92831	OTTHUMG00000130481	ENST00000263754.4:c.1188C>A	3.37:g.20161127C>A	ENSP00000263754:p.Tyr396*						p.Y396*	NM_003884	NP_003875	Q92831	KAT2B_HUMAN			8	1634	+			396					Q6NSK1	Nonsense_Mutation	SNP	ENST00000263754.4	37	c.1188C>A	CCDS2634.1	.	.	.	.	.	.	.	.	.	.	C	41	8.556602	0.98861	.	.	ENSG00000114166	ENST00000263754	.	.	.	5.74	2.97	0.34412	.	0.052206	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-2.4147	9.4065	0.38464	0.0:0.7341:0.0:0.2659	.	.	.	.	X	396	.	ENSP00000263754:Y396X	Y	+	3	2	KAT2B	20136131	1.000000	0.71417	0.982000	0.44146	0.740000	0.42216	1.092000	0.30927	1.435000	0.47434	0.643000	0.83706	TAC		0.488	KAT2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252880.1	NM_003884		9	51	1	0	7.48243e-07	0.006214	8.56955e-07	9	51				
TGFBR2	7048	broad.mit.edu	37	3	30733001	30733001	+	Silent	SNP	C	C	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr3:30733001C>T	ENST00000295754.5	+	7	1996	c.1614C>T	c.(1612-1614)ttC>ttT	p.F538F	TGFBR2_ENST00000359013.4_Silent_p.F563F	NM_003242.5	NP_003233.4	P37173	TGFR2_HUMAN	transforming growth factor, beta receptor II (70/80kDa)	538	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of protein kinase activity (GO:0032147)|aging (GO:0007568)|apoptotic process (GO:0006915)|blood vessel development (GO:0001568)|brain development (GO:0007420)|bronchus morphogenesis (GO:0060434)|cartilage development (GO:0051216)|common-partner SMAD protein phosphorylation (GO:0007182)|digestive tract development (GO:0048565)|embryo implantation (GO:0007566)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic hemopoiesis (GO:0035162)|gastrulation (GO:0007369)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|lens development in camera-type eye (GO:0002088)|lens fiber cell apoptotic process (GO:1990086)|lung lobe morphogenesis (GO:0060463)|mammary gland morphogenesis (GO:0060443)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|organ regeneration (GO:0031100)|palate development (GO:0060021)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|patterning of blood vessels (GO:0001569)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of angiogenesis (GO:0045766)|positive regulation of B cell tolerance induction (GO:0002663)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of NK T cell differentiation (GO:0051138)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of skeletal muscle tissue regeneration (GO:0043415)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of T cell tolerance induction (GO:0002666)|positive regulation of tolerance induction to self antigen (GO:0002651)|protein phosphorylation (GO:0006468)|receptor-mediated endocytosis (GO:0006898)|regulation of cell proliferation (GO:0042127)|response to cholesterol (GO:0070723)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to glucose (GO:0009749)|response to mechanical stimulus (GO:0009612)|response to nutrient (GO:0007584)|smoothened signaling pathway (GO:0007224)|trachea formation (GO:0060440)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vasculogenesis (GO:0001570)|wound healing (GO:0042060)	caveola (GO:0005901)|cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|transforming growth factor beta receptor homodimeric complex (GO:0070022)	ATP binding (GO:0005524)|glycosaminoglycan binding (GO:0005539)|metal ion binding (GO:0046872)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type II (GO:0005026)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)|type I transforming growth factor beta receptor binding (GO:0034713)|type III transforming growth factor beta receptor binding (GO:0034714)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2)	53						CAGAACGCTTCAGTGAGCTGG	0.587																																							uc003ceo.2		NA																	0				pancreas(9)|large_intestine(6)|stomach(4)|lung(3)|ovary(3)|central_nervous_system(1)	26						c.(1612-1614)TTC>TTT		transforming growth factor, beta receptor II							84.0	82.0	83.0					3																	30733001		2203	4300	6503	SO:0001819	synonymous_variant	7048				activation of protein kinase activity|brain development|embryonic cranial skeleton morphogenesis|embryonic hemopoiesis|heart development|myeloid dendritic cell differentiation|palate development|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of B cell tolerance induction|positive regulation of mesenchymal cell proliferation|positive regulation of NK T cell differentiation|positive regulation of reactive oxygen species metabolic process|positive regulation of T cell tolerance induction|positive regulation of tolerance induction to self antigen|response to cholesterol|response to drug|transforming growth factor beta receptor signaling pathway|transforming growth factor beta receptor signaling pathway|vasculogenesis	caveola|external side of plasma membrane	ATP binding|glycosaminoglycan binding|metal ion binding|protein binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type II|type I transforming growth factor beta receptor binding|type I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding	g.chr3:30733001C>T		CCDS2648.1, CCDS33727.1	3p22	2014-09-17	2002-08-29		ENSG00000163513	ENSG00000163513			11773	protein-coding gene	gene with protein product		190182	"""transforming growth factor, beta receptor II (70-80kD)"""	MFS2		1319842, 15235604	Standard	NM_001024847		Approved		uc003cen.3	P37173	OTTHUMG00000130569	ENST00000295754.5:c.1614C>T	3.37:g.30733001C>T						TGFBR2_uc003cen.2_Silent_p.F563F	p.F538F	NM_003242	NP_003233	P37173	TGFR2_HUMAN			7	1996	+			538			Protein kinase.|Cytoplasmic (Potential).		B4DTV5|Q15580|Q6DKT6|Q99474	Silent	SNP	ENST00000295754.5	37	c.1614C>T	CCDS2648.1																																																																																				0.587	TGFBR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252994.2			10	84	0	0	0	0.000978	0	10	84				
CRTAP	10491	broad.mit.edu	37	3	33174160	33174160	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr3:33174160G>T	ENST00000320954.6	+	5	1135	c.1036G>T	c.(1036-1038)Ggc>Tgc	p.G346C	CRTAP_ENST00000449224.1_Missense_Mutation_p.G303C	NM_006371.4	NP_006362.1	O75718	CRTAP_HUMAN	cartilage associated protein	346					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						GGACACTTGGGGCCTCTCGGA	0.527																																							uc003cfl.3		NA																	0					0						c.(1036-1038)GGC>TGC		cartilage associated protein precursor							139.0	122.0	128.0					3																	33174160		2203	4300	6503	SO:0001583	missense	10491					proteinaceous extracellular matrix	binding	g.chr3:33174160G>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.1036G>T	3.37:g.33174160G>T	ENSP00000323696:p.Gly346Cys					CRTAP_uc010hfz.2_Missense_Mutation_p.G303C|CRTAP_uc003cfm.2_Missense_Mutation_p.G167C|CRTAP_uc003cfn.2_Missense_Mutation_p.G167C	p.G346C	NM_006371	NP_006362	O75718	CRTAP_HUMAN			5	1156	+			346					B2RBL6	Missense_Mutation	SNP	ENST00000320954.6	37	c.1036G>T	CCDS2657.1	.	.	.	.	.	.	.	.	.	.	G	16.87	3.240774	0.58995	.	.	ENSG00000170275	ENST00000320954;ENST00000539684;ENST00000449224	T;T	0.59906	0.23;0.23	5.48	4.61	0.57282	.	0.211540	0.49305	D	0.000154	T	0.71693	0.3370	M	0.84326	2.69	0.58432	D	0.999999	P;P	0.48764	0.915;0.915	P;P	0.53062	0.717;0.717	T	0.77387	-0.2607	10	0.87932	D	0	0.3048	14.4018	0.67053	0.0711:0.0:0.9289:0.0	.	303;346	C9JP16;O75718	.;CRTAP_HUMAN	C	346;333;303	ENSP00000323696:G346C;ENSP00000409997:G303C	ENSP00000323696:G346C	G	+	1	0	CRTAP	33149164	1.000000	0.71417	1.000000	0.80357	0.328000	0.28507	6.664000	0.74437	1.328000	0.45358	0.561000	0.74099	GGC		0.527	CRTAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253246.3			22	83	1	0	1.1804e-14	0.003954	1.57751e-14	22	83				
TRANK1	9881	broad.mit.edu	37	3	36876324	36876324	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr3:36876324C>A	ENST00000429976.2	-	20	5707	c.5460G>T	c.(5458-5460)caG>caT	p.Q1820H	TRANK1_ENST00000428977.2_Missense_Mutation_p.Q1270H|TRANK1_ENST00000301807.6_Missense_Mutation_p.Q1270H	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	1820							ATP binding (GO:0005524)|hydrolase activity (GO:0016787)			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						GATCAAATTCCTGAATCTGCT	0.398																																							uc003cgj.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(3808-3810)CAG>CAT		lupus brain antigen 1							108.0	107.0	107.0					3																	36876324		1874	4100	5974	SO:0001583	missense	9881				DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding	g.chr3:36876324C>A	AK096678	CCDS46789.1, CCDS46789.2	3p22.2	2013-01-11			ENSG00000168016	ENSG00000168016		"""Ankyrin repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	29011	protein-coding gene	gene with protein product	"""lupus brain antigen 1"", ""KIAA0342"""					9205841	Standard	NM_014831		Approved	LBA1, KIAA0342	uc003cgj.3	O15050	OTTHUMG00000155848	ENST00000429976.2:c.5460G>T	3.37:g.36876324C>A	ENSP00000416168:p.Gln1820His						p.Q1270H	NM_014831	NP_055646	O15050	TRNK1_HUMAN			11	4112	-			1820			TPR 4.		Q8N8K0	Missense_Mutation	SNP	ENST00000429976.2	37	c.3810G>T	CCDS46789.2	.	.	.	.	.	.	.	.	.	.	C	13.72	2.321611	0.41096	.	.	ENSG00000168016	ENST00000428977;ENST00000429976;ENST00000301807	T;T;T	0.32272	1.46;1.87;1.46	5.85	2.14	0.27477	Tetratricopeptide-like helical (1);	0.237281	0.29980	N	0.010719	T	0.31638	0.0803	N	0.19112	0.55	0.36772	D	0.883849	D	0.67145	0.996	P	0.59703	0.862	T	0.15178	-1.0446	10	0.35671	T	0.21	.	10.9759	0.47465	0.0:0.7493:0.0:0.2507	.	1820	O15050	TRNK1_HUMAN	H	1270;1820;1270	ENSP00000416826:Q1270H;ENSP00000416168:Q1820H;ENSP00000301807:Q1270H	ENSP00000301807:Q1270H	Q	-	3	2	TRANK1	36851328	0.998000	0.40836	1.000000	0.80357	0.993000	0.82548	0.326000	0.19646	0.192000	0.20272	-0.140000	0.14226	CAG		0.398	TRANK1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_014831		10	15	1	0	0.000978159	0.000978	0.00104	10	15				
SCN10A	6336	broad.mit.edu	37	3	38835286	38835286	+	Silent	SNP	T	T	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr3:38835286T>A	ENST00000449082.2	-	1	215	c.216A>T	c.(214-216)gcA>gcT	p.A72A		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	72					AV node cell to bundle of His cell communication (GO:0086067)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of cardiac muscle contraction (GO:0055117)|regulation of heart rate (GO:0002027)|regulation of ion transmembrane transport (GO:0034765)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cinchocaine(DB00527)|Cocaine(DB00907)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Lacosamide(DB06218)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Orphenadrine(DB01173)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)|Valproic Acid(DB00313)	CGATCAGTTCTGCTGGGAGCT	0.552																																							uc003ciq.2		NA																	0				ovary(5)|skin(3)|large_intestine(1)|kidney(1)	10						c.(214-216)GCA>GCT		sodium channel, voltage-gated, type X, alpha	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)						139.0	145.0	143.0					3																	38835286		2203	4300	6503	SO:0001819	synonymous_variant	6336				sensory perception	voltage-gated sodium channel complex		g.chr3:38835286T>A	AF117907	CCDS33736.1	3p22.2	2012-02-26	2007-01-23		ENSG00000185313	ENSG00000185313		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10582	protein-coding gene	gene with protein product		604427	"""sodium channel, voltage-gated, type X, alpha polypeptide"""			9839820, 10198179, 16382098	Standard	NM_006514		Approved	Nav1.8, hPN3, SNS, PN3	uc003ciq.3	Q9Y5Y9	OTTHUMG00000048245	ENST00000449082.2:c.216A>T	3.37:g.38835286T>A							p.A72A	NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	1	216	-			72					A6NDQ1	Silent	SNP	ENST00000449082.2	37	c.216A>T	CCDS33736.1																																																																																				0.552	SCN10A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109745.3	NM_006514		65	68	0	0	0	0.00361	0	65	68				
TRAK1	22906	broad.mit.edu	37	3	42133018	42133018	+	Silent	SNP	C	C	G			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr3:42133018C>G	ENST00000327628.5	+	1	457	c.57C>G	c.(55-57)ctC>ctG	p.L19L	TRAK1_ENST00000487159.1_Intron	NM_001042646.2	NP_001036111.1	Q9UPV9	TRAK1_HUMAN	trafficking protein, kinesin binding 1	19					endosome to lysosome transport (GO:0008333)|protein O-linked glycosylation (GO:0006493)|protein targeting (GO:0006605)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|mitochondrion (GO:0005739)|nucleus (GO:0005634)				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	22						TGCCAGGACTCTGCCACGGCA	0.517																																					GBM(44;195 884 22595 31865 41850)	GBM(44;195 884 22595 31865 41850)	uc003cky.2		NA																	0				ovary(1)	1						c.(55-57)CTC>CTG		OGT(O-Glc-NAc transferase)-interacting protein							81.0	78.0	79.0					3																	42133018		1909	4131	6040	SO:0001819	synonymous_variant	22906				endosome to lysosome transport|protein O-linked glycosylation|protein targeting|regulation of transcription from RNA polymerase II promoter	early endosome|mitochondrion|nucleus		g.chr3:42133018C>G		CCDS2695.1, CCDS43072.1, CCDS58826.1, CCDS74922.1	3p22.1	2012-03-05			ENSG00000182606	ENSG00000182606			29947	protein-coding gene	gene with protein product	"""OGT(O Glc NAc transferase) interacting protein 106 KDa"", ""O-linked N-acetylglucosamine transferase interacting protein 106"", ""milton homolog 1 (Drosophila)"""	608112				10470851, 12435728, 16380713, 20230862	Standard	NM_014965		Approved	OIP106, KIAA1042, MILT1	uc003cky.4	Q9UPV9	OTTHUMG00000131795	ENST00000327628.5:c.57C>G	3.37:g.42133018C>G						TRAK1_uc011azh.1_Silent_p.L19L|TRAK1_uc011azi.1_Silent_p.L19L	p.L19L	NM_001042646	NP_001036111	Q9UPV9	TRAK1_HUMAN			1	273	+			19					E9PDS2|J3KNT7|Q63HR0|Q659B5|Q96B69	Silent	SNP	ENST00000327628.5	37	c.57C>G	CCDS43072.1																																																																																				0.517	TRAK1-004	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343413.1	NM_014965		6	33	0	0	0	0.00308	0	6	33				
KLHL40	131377	broad.mit.edu	37	3	42727389	42727389	+	Missense_Mutation	SNP	G	G	C			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr3:42727389G>C	ENST00000287777.4	+	1	379	c.279G>C	c.(277-279)gaG>gaC	p.E93D		NM_152393.2	NP_689606.2	Q2TBA0	KLH40_HUMAN	kelch-like family member 40	93	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				multicellular organismal development (GO:0007275)	cytoplasm (GO:0005737)											ACACATCAGAGATCGCGCTGG	0.642																																							uc003clv.1		NA																	0				ovary(1)	1						c.(277-279)GAG>GAC		kelch repeat and BTB (POZ) domain containing 5							66.0	69.0	68.0					3																	42727389		2203	4300	6503	SO:0001583	missense	131377							g.chr3:42727389G>C	AK056577	CCDS2703.1	3p21.33	2013-07-30	2013-02-22	2013-01-08	ENSG00000157119	ENSG00000157119		"""Kelch-like"", ""BTB/POZ domain containing"""	30372	protein-coding gene	gene with protein product	"""sarcosynapsin"", ""nemaline myopathy type 8"""	615340	"""kelch repeat and BTB (POZ) domain containing 5"", ""kelch-like 40 (Drosophila)"""	KBTBD5		23746549	Standard	NM_152393		Approved	SRYP, NEM8	uc003clv.1	Q2TBA0	OTTHUMG00000133045	ENST00000287777.4:c.279G>C	3.37:g.42727389G>C	ENSP00000287777:p.Glu93Asp						p.E93D	NM_152393	NP_689606	Q2TBA0	KBTB5_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.214)	1	379	+			93			BTB.		Q86SI1|Q96MR2	Missense_Mutation	SNP	ENST00000287777.4	37	c.279G>C	CCDS2703.1	.	.	.	.	.	.	.	.	.	.	G	9.770	1.172402	0.21704	.	.	ENSG00000157119	ENST00000287777	T	0.69306	-0.39	5.02	5.02	0.67125	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.105165	0.64402	D	0.000003	T	0.55242	0.1908	N	0.24115	0.695	0.41257	D	0.986754	B	0.18013	0.025	B	0.24006	0.05	T	0.49532	-0.8930	10	0.21540	T	0.41	.	18.5349	0.91006	0.0:0.0:1.0:0.0	.	93	Q2TBA0	KBTB5_HUMAN	D	93	ENSP00000287777:E93D	ENSP00000287777:E93D	E	+	3	2	KBTBD5	42702393	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.206000	0.32321	2.627000	0.88993	0.655000	0.94253	GAG		0.642	KLHL40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256651.1	NM_152393		3	47	0	0	0	0.009096	0	3	47				
PTH1R	5745	broad.mit.edu	37	3	46943287	46943287	+	Missense_Mutation	SNP	G	G	A	rs398122843		TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr3:46943287G>A	ENST00000313049.5	+	11	1351	c.1148G>A	c.(1147-1149)cGg>cAg	p.R383Q	PTH1R_ENST00000430002.2_Missense_Mutation_p.R383Q|PTH1R_ENST00000418619.1_Missense_Mutation_p.R383Q|PTH1R_ENST00000449590.1_Missense_Mutation_p.R383Q			Q03431	PTH1R_HUMAN	parathyroid hormone 1 receptor	383					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|aging (GO:0007568)|bone mineralization (GO:0030282)|bone resorption (GO:0045453)|cell maturation (GO:0048469)|chondrocyte differentiation (GO:0002062)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|negative regulation of cell proliferation (GO:0008285)|osteoblast development (GO:0002076)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of inositol phosphate biosynthetic process (GO:0060732)|skeletal system development (GO:0001501)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	parathyroid hormone receptor activity (GO:0004991)|peptide hormone binding (GO:0017046)|protein self-association (GO:0043621)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(5)|skin(2)|stomach(1)|urinary_tract(2)	19					Preotact(DB05829)|Teriparatide(DB06285)	AATATCGTCCGGGTGCTCGCC	0.662																																							uc003cqm.2		NA																	0				breast(1)	1	GRCh37	CS982335	PTH1R	S		c.(1147-1149)CGG>CAG		parathyroid hormone receptor 1 precursor							63.0	64.0	64.0					3																	46943287		2203	4300	6503	SO:0001583	missense	5745	Ollier_disease_/_Maffucsyndrome				cytoplasm|integral to plasma membrane|nucleus	parathyroid hormone receptor activity|peptide hormone binding|protein self-association	g.chr3:46943287G>A		CCDS2747.1	3p22-p21.1	2012-08-10	2008-11-18	2008-11-18	ENSG00000160801	ENSG00000160801		"""GPCR / Class B : Parathyroid hormone receptors"""	9608	protein-coding gene	gene with protein product		168468	"""parathyroid hormone receptor 1"""	PTHR, PTHR1		8020952	Standard	NM_001184744		Approved		uc021wxg.1	Q03431	OTTHUMG00000133515	ENST00000313049.5:c.1148G>A	3.37:g.46943287G>A	ENSP00000321999:p.Arg383Gln					PTH1R_uc003cqn.2_Missense_Mutation_p.R383Q	p.R383Q	NM_000316	NP_000307	Q03431	PTH1R_HUMAN			13	1351	+			383			Cytoplasmic (Potential).		Q2M1U3	Missense_Mutation	SNP	ENST00000313049.5	37	c.1148G>A	CCDS2747.1	.	.	.	.	.	.	.	.	.	.	G	36	5.655240	0.96724	.	.	ENSG00000160801	ENST00000449590;ENST00000418619;ENST00000427125;ENST00000430002;ENST00000313049;ENST00000313063	T;T;T;T;T	0.39406	1.08;1.08;1.08;1.08;1.08	4.93	4.93	0.64822	GPCR, family 2-like (1);	.	.	.	.	T	0.69033	0.3066	M	0.86097	2.795	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.74694	-0.3579	9	0.72032	D	0.01	.	17.3127	0.87214	0.0:0.0:1.0:0.0	.	383	Q03431	PTH1R_HUMAN	Q	383;383;383;383;383;647	ENSP00000402723:R383Q;ENSP00000411424:R383Q;ENSP00000400977:R383Q;ENSP00000413774:R383Q;ENSP00000321999:R383Q	ENSP00000321999:R383Q	R	+	2	0	PTH1R	46918291	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	7.779000	0.85648	2.561000	0.86390	0.563000	0.77884	CGG		0.662	PTH1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257481.1	NM_000316		31	50	0	0	0	0.00623	0	31	50				
KLHL18	23276	broad.mit.edu	37	3	47371576	47371577	+	Missense_Mutation	DNP	GC	GC	TG			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	GC	GC	-	-	GC	GC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr3:47371576_47371577GC>TG	ENST00000232766.5	+	4	557_558	c.537_538GC>TG	c.(535-540)ctGCcc>ctTGcc	p.P180A	KLHL18_ENST00000455924.2_Missense_Mutation_p.P68A	NM_025010.4	NP_079286.2	O94889	KLH18_HUMAN	kelch-like family member 18	180	BACK.									endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	21		Acute lymphoblastic leukemia(5;0.164)		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00645)|Kidney(197;0.00741)		TCCTGGCCCTGCCCTTGGAAGA	0.535																																							uc003crd.2		NA																	0					0						c.(535-540)CTGCCC>CTTGCC		kelch-like 18																																				SO:0001583	missense	23276							g.chr3:47371576_47371577GC>TG	AB018338	CCDS33749.1	3p21	2013-01-30	2013-01-30		ENSG00000114648	ENSG00000114648		"""Kelch-like"", ""BTB/POZ domain containing"""	29120	protein-coding gene	gene with protein product			"""kelch-like 18 (Drosophila)"""			9872452	Standard	NM_025010		Approved	KIAA0795, FLJ13703	uc003crd.3	O94889	OTTHUMG00000156522	Exception_encountered	3.37:g.47371576_47371577delinsTG	ENSP00000232766:p.Pro180Ala					KLHL18_uc003crc.2_Missense_Mutation_p.P180A|KLHL18_uc011bav.1_Missense_Mutation_p.P68A|KLHL18_uc010hjq.1_Missense_Mutation_p.P31A	p.P180A	NM_025010	NP_079286	O94889	KLH18_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00645)|Kidney(197;0.00741)	4	663_664	+		Acute lymphoblastic leukemia(5;0.164)	180			BACK.		A8K612|Q7Z3E8|Q8N125	Missense_Mutation	DNP	ENST00000232766.5	37	c.537_538GC>TG	CCDS33749.1																																																																																				0.535	KLHL18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344493.1	NM_025010		29	35	0	0	0	0.004672	0	29	35				
CELSR3	1951	broad.mit.edu	37	3	48693266	48693266	+	Missense_Mutation	SNP	C	C	G			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr3:48693266C>G	ENST00000164024.4	-	4	4924	c.4644G>C	c.(4642-4644)caG>caC	p.Q1548H	CELSR3_ENST00000544264.1_Missense_Mutation_p.Q1548H	NM_001407.2	NP_001398.2	Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	1548	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				axonal fasciculation (GO:0007413)|cilium assembly (GO:0042384)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of protein localization (GO:0032880)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GCAGCCCGCTCTGCTGCACTG	0.652																																							uc003cul.2		NA																	0				ovary(5)|upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)	11						c.(4642-4644)CAG>CAC		cadherin EGF LAG seven-pass G-type receptor 3							31.0	32.0	31.0					3																	48693266		2203	4300	6503	SO:0001583	missense	1951				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr3:48693266C>G	AF231023	CCDS2775.1	3p21.31	2014-08-08	2013-02-18		ENSG00000008300	ENSG00000008300		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3230	protein-coding gene	gene with protein product	"""flamingo homolog 1 (Drosophila)"""	604264	"""cadherin EGF LAG seven-pass G-type receptor 3, flamingo (Drosophila) homolog"""	EGFL1		9693030	Standard	NM_001407		Approved	MEGF2, HFMI1, FMI1, CDHF11	uc003cuf.1	Q9NYQ7	OTTHUMG00000133544	ENST00000164024.4:c.4644G>C	3.37:g.48693266C>G	ENSP00000164024:p.Gln1548His					CELSR3_uc003cuf.1_Missense_Mutation_p.Q1618H	p.Q1548H	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)	4	4925	-			1548			Extracellular (Potential).|Laminin G-like 1.		O75092	Missense_Mutation	SNP	ENST00000164024.4	37	c.4644G>C	CCDS2775.1	.	.	.	.	.	.	.	.	.	.	C	15.11	2.737434	0.49045	.	.	ENSG00000008300	ENST00000164024;ENST00000544264	T;T	0.78246	-1.16;-1.16	5.0	-6.18	0.02085	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	.	.	.	.	T	0.59649	0.2209	N	0.16166	0.38	0.09310	N	0.999998	B;B	0.28178	0.0;0.202	B;B	0.34590	0.01;0.186	T	0.54091	-0.8345	9	0.39692	T	0.17	.	9.2008	0.37258	0.0702:0.258:0.5779:0.0939	.	1548;1618	Q9NYQ7;Q5Y190	CELR3_HUMAN;.	H	1548	ENSP00000164024:Q1548H;ENSP00000445694:Q1548H	ENSP00000164024:Q1548H	Q	-	3	2	CELSR3	48668270	0.000000	0.05858	0.941000	0.38009	0.984000	0.73092	-1.388000	0.02533	-1.031000	0.03308	0.561000	0.74099	CAG		0.652	CELSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257523.1	NM_001407		9	33	0	0	0	0.004482	0	9	33				
QARS	5859	broad.mit.edu	37	3	49138787	49138787	+	Splice_Site	SNP	C	C	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr3:49138787C>T	ENST00000306125.6	-	10	1214		c.e10+1		QARS_ENST00000414533.1_Splice_Site|QARS_ENST00000470225.1_Splice_Site|QARS_ENST00000420147.2_Splice_Site			P47897	SYQ_HUMAN	glutaminyl-tRNA synthetase						brain development (GO:0007420)|gene expression (GO:0010467)|glutaminyl-tRNA aminoacylation (GO:0006425)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|glutamine-tRNA ligase activity (GO:0004819)			breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	L-Glutamine(DB00130)	CACATGCTTACCTTGGCATAG	0.493																																							uc003cvx.2		NA																	0				ovary(1)	1						c.e10+1		glutaminyl-tRNA synthetase	L-Glutamine(DB00130)						120.0	106.0	111.0					3																	49138787		2203	4300	6503	SO:0001630	splice_region_variant	5859				glutaminyl-tRNA aminoacylation	cytosol|mitochondrial matrix	ATP binding|glutamine-tRNA ligase activity|protein binding	g.chr3:49138787C>T	X76013	CCDS2788.1, CCDS63633.1	3p21.31	2011-07-01			ENSG00000172053	ENSG00000172053	6.1.1.18	"""Aminoacyl tRNA synthetases / Class I"""	9751	protein-coding gene	gene with protein product	"""glutamine tRNA ligase"""	603727				8078941, 10393422	Standard	NM_005051		Approved		uc003cvx.4	P47897	OTTHUMG00000156774	ENST00000306125.6:c.876+1G>A	3.37:g.49138787C>T						QARS_uc011bcc.1_5'Flank|QARS_uc011bcd.1_Splice_Site_p.K147_splice|QARS_uc003cvy.2_Splice_Site_p.K147_splice|QARS_uc011bce.1_Splice_Site_p.K281_splice|QARS_uc011bcf.1_Splice_Site_p.V264_splice	p.K292_splice	NM_005051	NP_005042	P47897	SYQ_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	10	881	-								B4DWJ2	Splice_Site	SNP	ENST00000306125.6	37	c.876_splice	CCDS2788.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.981948	0.74474	.	.	ENSG00000172053	ENST00000306125;ENST00000414533;ENST00000420147	.	.	.	5.73	5.73	0.89815	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.4958	0.95072	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	QARS	49113791	1.000000	0.71417	1.000000	0.80357	0.639000	0.38242	7.280000	0.78610	2.708000	0.92522	0.655000	0.94253	.		0.493	QARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345689.2	NM_005051	Intron	27	37	0	0	0	0.002096	0	27	37				
RNF123	63891	broad.mit.edu	37	3	49758500	49758500	+	Silent	SNP	C	C	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr3:49758500C>T	ENST00000327697.6	+	38	3930	c.3786C>T	c.(3784-3786)atC>atT	p.I1262I	AMIGO3_ENST00000535833.1_5'UTR|AMIGO3_ENST00000320431.7_5'Flank|GMPPB_ENST00000308375.6_3'UTR|GMPPB_ENST00000480687.1_3'UTR|RNF123_ENST00000433785.1_Silent_p.I374I	NM_022064.3	NP_071347.2	Q5XPI4	RN123_HUMAN	ring finger protein 123	1262					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)		CCCACCCCATCTCTGCTGTGT	0.607																																							uc003cxh.2		NA																	0				kidney(3)|ovary(1)|lung(1)|breast(1)|skin(1)	7						c.(3784-3786)ATC>ATT		ring finger protein 123							107.0	88.0	94.0					3																	49758500		2203	4300	6503	SO:0001819	synonymous_variant	63891					cytoplasm	ligase activity|protein binding|zinc ion binding	g.chr3:49758500C>T	AK022627	CCDS33758.1	3p24.3	2008-02-05			ENSG00000164068	ENSG00000164068		"""RING-type (C3HC4) zinc fingers"""	21148	protein-coding gene	gene with protein product		614472					Standard	NM_022064		Approved	FLJ12565	uc003cxh.4	Q5XPI4	OTTHUMG00000156891	ENST00000327697.6:c.3786C>T	3.37:g.49758500C>T						RNF123_uc003cxi.2_RNA|AMIGO3_uc003cxj.2_5'Flank	p.I1262I	NM_022064	NP_071347	Q5XPI4	RN123_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)	38	3872	+			1262			RING-type.		A1L4Q3|A6NLS5|Q5I022|Q6PFW4|Q71RH0|Q8IW18|Q9H0M8|Q9H5L8|Q9H9T2	Silent	SNP	ENST00000327697.6	37	c.3786C>T	CCDS33758.1																																																																																				0.607	RNF123-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346475.2	NM_022064		16	85	0	0	0	0.002299	0	16	85				
SLC38A3	10991	broad.mit.edu	37	3	50255703	50255703	+	RNA	SNP	C	C	G			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr3:50255703C>G	ENST00000420502.1	+	0	1090									solute carrier family 38, member 3											breast(1)|cervix(1)|endometrium(1)|lung(3)	6				BRCA - Breast invasive adenocarcinoma(193;0.000275)|KIRC - Kidney renal clear cell carcinoma(197;0.00548)|Kidney(197;0.00615)		TCCCCACAGCCCCTCCAAGAA	0.552																																							uc003cyn.3		NA																	0				breast(1)	1						c.(937-939)CCC>GCC		solute carrier family 38, member 3	L-Asparagine(DB00174)|L-Glutamine(DB00130)|L-Histidine(DB00117)						88.0	89.0	88.0					3																	50255703		1981	4144	6125			10991				cellular nitrogen compound metabolic process|sodium ion transport	integral to plasma membrane	antiporter activity|L-alanine transmembrane transporter activity|L-asparagine transmembrane transporter activity|L-glutamine transmembrane transporter activity|L-histidine transmembrane transporter activity|symporter activity	g.chr3:50255703C>G	U49082	CCDS74940.1	3p21.3	2013-05-22			ENSG00000188338	ENSG00000188338		"""Solute carriers"""	18044	protein-coding gene	gene with protein product		604437				10619430, 10823827	Standard	XM_006712954		Approved	G17, SN1	uc003cyn.4	Q99624	OTTHUMG00000156764		3.37:g.50255703C>G						SLC38A3_uc011bdl.1_Missense_Mutation_p.P288A|SLC38A3_uc011bdm.1_Missense_Mutation_p.P244A	p.P313A	NM_006841	NP_006832	Q99624	S38A3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000275)|KIRC - Kidney renal clear cell carcinoma(197;0.00548)|Kidney(197;0.00615)	12	1078	+			313						Missense_Mutation	SNP	ENST00000420502.1	37	c.937C>G																																																																																					0.552	SLC38A3-001	KNOWN	sequence_error|basic	processed_transcript	processed_transcript	OTTHUMT00000345635.2	NM_006841		28	55	0	0	0	0.007291	0	28	55				
ITIH1	3697	broad.mit.edu	37	3	52818319	52818319	+	Silent	SNP	G	G	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr3:52818319G>T	ENST00000273283.2	+	11	1257	c.1233G>T	c.(1231-1233)acG>acT	p.T411T	ITIH1_ENST00000542827.1_Silent_p.T411T|ITIH1_ENST00000540715.1_Silent_p.T269T|ITIH1_ENST00000537050.1_Silent_p.T123T	NM_002215.3	NP_002206.2	P19827	ITIH1_HUMAN	inter-alpha-trypsin inhibitor heavy chain 1	411	Hyaluronan-binding.|VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				hyaluronan metabolic process (GO:0030212)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(16)|lung(18)|ovary(4)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	52				BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498)		CAGGGGTGACGGACCGTTCCC	0.617																																							uc003dfs.2		NA																	0				ovary(3)	3						c.(1231-1233)ACG>ACT		inter-alpha (globulin) inhibitor H1							54.0	47.0	49.0					3																	52818319		2203	4300	6503	SO:0001819	synonymous_variant	3697				hyaluronan metabolic process|leukocyte activation	extracellular region	calcium ion binding|serine-type endopeptidase inhibitor activity	g.chr3:52818319G>T		CCDS2864.1, CCDS54595.1	3p21.1	2011-10-26	2011-10-26		ENSG00000055957	ENSG00000055957			6166	protein-coding gene	gene with protein product		147270	"""inter-alpha (globulin) inhibitor, H1 polypeptide"""			1385302, 10100603	Standard	NM_002215		Approved	H1P, IATIH, ITIH	uc003dfs.3	P19827	OTTHUMG00000150312	ENST00000273283.2:c.1233G>T	3.37:g.52818319G>T						ITIH1_uc010hmn.1_RNA|ITIH1_uc003dft.2_Silent_p.T12T|ITIH1_uc010hmo.1_5'UTR	p.T411T	NM_002215	NP_002206	P19827	ITIH1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498)	11	1257	+			411			Hyaluronan-binding.|VWFA.		A8K9N5|B2RAH9|B7Z558|B7Z8C0|F5H165|F5H7Y8|P78455|Q01746|Q562G1	Silent	SNP	ENST00000273283.2	37	c.1233G>T	CCDS2864.1																																																																																				0.617	ITIH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317522.1	NM_002215		6	13	1	0	1.26484e-09	0.00308	1.54882e-09	6	13				
PDZRN3	23024	broad.mit.edu	37	3	73440201	73440201	+	Missense_Mutation	SNP	C	C	G	rs200273452		TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr3:73440201C>G	ENST00000263666.4	-	6	1435	c.1321G>C	c.(1321-1323)Gat>Cat	p.D441H	PDZRN3_ENST00000462146.2_Missense_Mutation_p.D98H|PDZRN3_ENST00000466780.1_Missense_Mutation_p.D98H|PDZRN3_ENST00000466348.1_5'UTR|PDZRN3_ENST00000535920.1_Missense_Mutation_p.D163H|PDZRN3_ENST00000479530.1_Missense_Mutation_p.D158H	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	441	PDZ 2. {ECO:0000255|PROSITE- ProRule:PRU00143}.				neuromuscular junction development (GO:0007528)|protein ubiquitination (GO:0016567)	neuromuscular junction (GO:0031594)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		TCGTCTTCATCGTCCGTCCGG	0.438																																							uc003dpl.1		NA																	0				pancreas(2)|ovary(2)|skin(2)|large_intestine(1)	7						c.(1321-1323)GAT>CAT		PDZ domain containing ring finger 3							271.0	252.0	258.0					3																	73440201		2203	4300	6503	SO:0001583	missense	23024						ubiquitin-protein ligase activity|zinc ion binding	g.chr3:73440201C>G	AB029018	CCDS33789.1	3p14.1	2013-01-09	2008-08-14		ENSG00000121440	ENSG00000121440		"""RING-type (C3HC4) zinc fingers"""	17704	protein-coding gene	gene with protein product	"""likely ortholog of mouse semaF cytoplasmic domain associated protein 3"""	609729				10470851	Standard	XM_005264718		Approved	KIAA1095, SEMACAP3, LNX3	uc003dpl.1	Q9UPQ7	OTTHUMG00000158865	ENST00000263666.4:c.1321G>C	3.37:g.73440201C>G	ENSP00000263666:p.Asp441His					PDZRN3_uc011bgh.1_Missense_Mutation_p.D98H|PDZRN3_uc010hoe.1_Missense_Mutation_p.D139H|PDZRN3_uc011bgf.1_Missense_Mutation_p.D158H|PDZRN3_uc011bgg.1_Missense_Mutation_p.D161H	p.D441H	NM_015009	NP_055824	Q9UPQ7	PZRN3_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)	6	1417	-		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)	441			PDZ 2.		A7MCZ6|Q8N2N7|Q96CC2|Q9NSQ2	Missense_Mutation	SNP	ENST00000263666.4	37	c.1321G>C	CCDS33789.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.575599	0.86645	.	.	ENSG00000121440	ENST00000263666;ENST00000535920;ENST00000462146;ENST00000466780;ENST00000479530;ENST00000416926;ENST00000492909	T;T;T;T;T;T	0.27402	1.67;1.67;1.67;1.67;1.67;1.67	5.18	5.18	0.71444	PDZ/DHR/GLGF (4);	0.000000	0.85682	D	0.000000	T	0.52805	0.1757	L	0.55017	1.72	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;1.0;0.997;1.0	T	0.52749	-0.8534	10	0.56958	D	0.05	.	18.2949	0.90141	0.0:1.0:0.0:0.0	.	163;158;158;441	F5H8I9;B7ZAG0;B7Z5X9;Q9UPQ7	.;.;.;PZRN3_HUMAN	H	441;163;98;98;158;441;139	ENSP00000263666:D441H;ENSP00000442026:D163H;ENSP00000418168:D98H;ENSP00000418484:D98H;ENSP00000418624:D158H;ENSP00000419250:D139H	ENSP00000263666:D441H	D	-	1	0	PDZRN3	73522891	1.000000	0.71417	0.607000	0.28956	0.911000	0.54048	7.638000	0.83328	2.413000	0.81919	0.655000	0.94253	GAT		0.438	PDZRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352460.1	XM_041363		31	158	0	0	0	0.005524	0	31	158				
VGLL3	389136	broad.mit.edu	37	3	87027684	87027684	+	Missense_Mutation	SNP	A	A	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr3:87027684A>T	ENST00000398399.2	-	2	758	c.395T>A	c.(394-396)cTa>cAa	p.L132Q	VGLL3_ENST00000383698.3_Missense_Mutation_p.L132Q	NM_016206.2	NP_057290.2			vestigial-like family member 3											NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(11)	19	all_cancers(8;0.109)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712)		ACCTCGCCATAGGGGGGTTAG	0.512																																							uc003dqn.2		NA																	0					0						c.(394-396)CTA>CAA		colon carcinoma related protein							109.0	104.0	106.0					3																	87027684		1888	4122	6010	SO:0001583	missense	389136				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr3:87027684A>T	AF099505	CCDS43110.1	3p12.1	2014-03-03	2014-03-03		ENSG00000206538	ENSG00000206538			24327	protein-coding gene	gene with protein product		609980	"""vestigial like 3 (Drosophila)"""			12376544	Standard	NM_016206		Approved	VGL-3	uc003dqn.3	A8MV65	OTTHUMG00000158984	ENST00000398399.2:c.395T>A	3.37:g.87027684A>T	ENSP00000381436:p.Leu132Gln						p.L132Q	NM_016206	NP_057290	A8MV65	VGLL3_HUMAN		LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712)	2	759	-	all_cancers(8;0.109)|Lung SC(3;0.184)	Lung NSC(201;0.0777)	132						Missense_Mutation	SNP	ENST00000398399.2	37	c.395T>A	CCDS43110.1	.	.	.	.	.	.	.	.	.	.	A	17.86	3.492155	0.64074	.	.	ENSG00000206538	ENST00000398399;ENST00000383698	T;T	0.49720	0.78;0.77	5.28	5.28	0.74379	.	0.199866	0.32819	N	0.005608	T	0.63498	0.2516	M	0.63428	1.95	0.44531	D	0.997481	D	0.71674	0.998	P	0.62089	0.898	T	0.66842	-0.5821	10	0.62326	D	0.03	-5.4128	15.2007	0.73136	1.0:0.0:0.0:0.0	.	132	A8MV65	VGLL3_HUMAN	Q	132	ENSP00000381436:L132Q;ENSP00000373199:L132Q	ENSP00000373199:L132Q	L	-	2	0	VGLL3	87110374	1.000000	0.71417	0.999000	0.59377	0.940000	0.58332	5.203000	0.65174	1.993000	0.58246	0.459000	0.35465	CTA		0.512	VGLL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352805.1	NM_016206		53	75	0	0	0	0.00361	0	53	75				
OR5H1	26341	broad.mit.edu	37	3	97852446	97852446	+	Missense_Mutation	SNP	C	C	G			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr3:97852446C>G	ENST00000354565.2	+	1	905	c.905C>G	c.(904-906)aCa>aGa	p.T302R	RP11-343D2.11_ENST00000508964.1_RNA	NM_001005338.1	NP_001005338.1	A6NKK0	OR5H1_HUMAN	olfactory receptor, family 5, subfamily H, member 1	302						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(7)|kidney(8)|large_intestine(3)|lung(13)|ovary(1)|skin(1)	34						GTTTCATTCACAAAAATGTTA	0.313																																							uc011bgt.1		NA																	0				ovary(1)|breast(1)	2						c.(904-906)ACA>AGA		olfactory receptor, family 5, subfamily H,							64.0	69.0	67.0					3																	97852446		2203	4298	6501	SO:0001583	missense	26341				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:97852446C>G	X64988	CCDS33797.1	3q12.1	2012-08-09			ENSG00000231192	ENSG00000231192		"""GPCR / Class A : Olfactory receptors"""	8346	protein-coding gene	gene with protein product						1370859	Standard	NM_001005338		Approved	HTPCRX14, HSHTPCRX14	uc011bgt.2	A6NKK0	OTTHUMG00000160070	ENST00000354565.2:c.905C>G	3.37:g.97852446C>G	ENSP00000346575:p.Thr302Arg						p.T302R	NM_001005338	NP_001005338	A6NKK0	OR5H1_HUMAN			1	905	+			302			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000354565.2	37	c.905C>G	CCDS33797.1	.	.	.	.	.	.	.	.	.	.	C	0.174	-1.068720	0.01934	.	.	ENSG00000231192	ENST00000354565	T	0.33438	1.41	3.32	-6.64	0.01801	.	1.458530	0.04526	N	0.385557	T	0.07818	0.0196	N	0.01202	-0.96	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.15896	-1.0421	10	0.20046	T	0.44	.	1.4427	0.02357	0.1424:0.1691:0.3471:0.3414	.	302	A6NKK0	OR5H1_HUMAN	R	302	ENSP00000346575:T302R	ENSP00000346575:T302R	T	+	2	0	OR5H1	99335136	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.866000	0.01647	-1.389000	0.02090	0.195000	0.17529	ACA		0.313	OR5H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359100.2	NM_001005338		3	48	0	0	0	0.009096	0	3	48				
GPR15	2838	broad.mit.edu	37	3	98251467	98251467	+	Missense_Mutation	SNP	T	T	C			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr3:98251467T>C	ENST00000284311.3	+	1	725	c.590T>C	c.(589-591)cTg>cCg	p.L197P		NM_005290.1	NP_005281.1	P49685	GPR15_HUMAN	G protein-coupled receptor 15	197					G-protein coupled receptor signaling pathway (GO:0007186)|T cell migration (GO:0072678)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Lung NSC(201;7.93e-06)|all_neural(597;0.00172)|Hepatocellular(537;0.00825)|Myeloproliferative disorder(1037;0.0255)		Lung(72;0.246)		ATATGGTCCCTGGTGGCCTTA	0.468																																							uc011bgy.1		NA																	0				ovary(1)	1						c.(589-591)CTG>CCG		G protein-coupled receptor 15							160.0	147.0	151.0					3																	98251467		2203	4300	6503	SO:0001583	missense	2838					integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chr3:98251467T>C		CCDS2931.1	3q11.2-q13.1	2014-01-30			ENSG00000154165	ENSG00000154165		"""GPCR / Class A : Orphans"""	4469	protein-coding gene	gene with protein product		601166				8838812	Standard	NM_005290		Approved		uc011bgy.3	P49685	OTTHUMG00000160017	ENST00000284311.3:c.590T>C	3.37:g.98251467T>C	ENSP00000284311:p.Leu197Pro						p.L197P	NM_005290	NP_005281	P49685	GPR15_HUMAN		Lung(72;0.246)	1	590	+		Lung NSC(201;7.93e-06)|all_neural(597;0.00172)|Hepatocellular(537;0.00825)|Myeloproliferative disorder(1037;0.0255)	197			Helical; Name=5; (Potential).		Q3MIL4|Q6ISN6	Missense_Mutation	SNP	ENST00000284311.3	37	c.590T>C	CCDS2931.1	.	.	.	.	.	.	.	.	.	.	T	15.39	2.819348	0.50633	.	.	ENSG00000154165	ENST00000284311	T	0.75050	-0.9	4.92	4.92	0.64577	GPCR, rhodopsin-like superfamily (1);	0.000000	0.40144	N	0.001167	D	0.86590	0.5969	M	0.85373	2.75	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.88620	0.3162	10	0.87932	D	0	-7.1083	12.852	0.57862	0.0:0.0:0.0:1.0	.	197	P49685	GPR15_HUMAN	P	197	ENSP00000284311:L197P	ENSP00000284311:L197P	L	+	2	0	GPR15	99734157	1.000000	0.71417	0.998000	0.56505	0.688000	0.40055	4.719000	0.61937	2.203000	0.70933	0.533000	0.62120	CTG		0.468	GPR15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358907.1			7	99	0	0	0	0.001984	0	7	99				
CMSS1	84319	broad.mit.edu	37	3	99891180	99891180	+	Silent	SNP	G	G	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr3:99891180G>A	ENST00000421999.2	+	8	746	c.600G>A	c.(598-600)ttG>ttA	p.L200L	CMSS1_ENST00000489081.1_Silent_p.L182L	NM_032359.3	NP_115735.2	Q9BQ75	CMS1_HUMAN	cms1 ribosomal small subunit homolog (yeast)	200							poly(A) RNA binding (GO:0044822)										AGGTAAAGTTGCTGGAGAAGC	0.433																																							uc003dtl.2		NA																	0				skin(1)	1						c.(598-600)TTG>TTA		hypothetical protein LOC84319							77.0	80.0	79.0					3																	99891180		2203	4300	6503	SO:0001819	synonymous_variant	84319						ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr3:99891180G>A		CCDS2935.1, CCDS54618.1	3q12.1	2012-09-20	2012-09-20	2012-09-20	ENSG00000184220	ENSG00000184220			28666	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 26"""	C3orf26		12477932	Standard	NM_032359		Approved	MGC4308	uc003dtl.3	Q9BQ75	OTTHUMG00000159054	ENST00000421999.2:c.600G>A	3.37:g.99891180G>A							p.L200L	NM_032359	NP_115735	Q9BQ75	CC026_HUMAN			8	743	+			200					A8K5S7|B4DUM1|E9PHS3	Silent	SNP	ENST00000421999.2	37	c.600G>A	CCDS2935.1																																																																																				0.433	CMSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353060.1	NM_032359		6	58	0	0	0	0.001984	0	6	58				
IMPG2	50939	broad.mit.edu	37	3	101023064	101023064	+	Missense_Mutation	SNP	C	C	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr3:101023064C>T	ENST00000193391.7	-	3	614	c.427G>A	c.(427-429)Gat>Aat	p.D143N		NM_016247.3	NP_057331.2	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2	143					visual perception (GO:0007601)	integral component of membrane (GO:0016021)|proteinaceous extracellular matrix (GO:0005578)|receptor complex (GO:0043235)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|hyaluronic acid binding (GO:0005540)			NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64					Hyaluronan(DB08818)	GTGACTCCATCCTCACACAAA	0.413																																							uc003duq.1		NA																	0				ovary(2)|haematopoietic_and_lymphoid_tissue(1)	3						c.(427-429)GAT>AAT		interphotoreceptor matrix proteoglycan 2							146.0	141.0	142.0					3																	101023064		2203	4300	6503	SO:0001583	missense	50939				visual perception	integral to membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity	g.chr3:101023064C>T	AF173155	CCDS2940.1	3q12.2-q12.3	2014-01-28			ENSG00000081148	ENSG00000081148			18362	protein-coding gene	gene with protein product		607056				10542133	Standard	NM_016247		Approved	IPM200, RP56	uc003duq.2	Q9BZV3	OTTHUMG00000159091	ENST00000193391.7:c.427G>A	3.37:g.101023064C>T	ENSP00000193391:p.Asp143Asn					IMPG2_uc011bhe.1_Missense_Mutation_p.D6N	p.D143N	NM_016247	NP_057331	Q9BZV3	IMPG2_HUMAN			3	630	-			143			Extracellular (Potential).		A8MWT5|Q9UKD4|Q9UKK5	Missense_Mutation	SNP	ENST00000193391.7	37	c.427G>A	CCDS2940.1	.	.	.	.	.	.	.	.	.	.	C	19.50	3.839691	0.71488	.	.	ENSG00000081148	ENST00000193391	T	0.22945	1.93	5.57	1.71	0.24356	.	0.422043	0.23852	N	0.043931	T	0.20251	0.0487	L	0.48362	1.52	0.33978	D	0.647648	B;B	0.12630	0.006;0.006	B;B	0.09377	0.004;0.004	T	0.10086	-1.0645	10	0.59425	D	0.04	-1.276	7.2615	0.26205	0.0:0.6733:0.1223:0.2044	.	143;143	F1T0J3;Q9BZV3	.;IMPG2_HUMAN	N	143	ENSP00000193391:D143N	ENSP00000193391:D143N	D	-	1	0	IMPG2	102505754	0.948000	0.32251	0.994000	0.49952	0.992000	0.81027	0.377000	0.20552	0.028000	0.15324	-0.157000	0.13467	GAT		0.413	IMPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353256.3			83	39	0	0	0	0.00361	0	83	39				
TRAT1	50852	broad.mit.edu	37	3	108572674	108572674	+	Missense_Mutation	SNP	C	C	G			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr3:108572674C>G	ENST00000295756.6	+	6	741	c.511C>G	c.(511-513)Ccc>Gcc	p.P171A	TRAT1_ENST00000426646.1_Missense_Mutation_p.P134A	NM_016388.2	NP_057472.2	Q6PIZ9	TRAT1_HUMAN	T cell receptor associated transmembrane adaptor 1	171					cellular defense response (GO:0006968)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|negative regulation of receptor recycling (GO:0001920)|negative regulation of transport (GO:0051051)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of T cell receptor signaling pathway (GO:0050862)|signal transduction (GO:0007165)|T cell receptor signaling pathway (GO:0050852)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)	p.P171S(1)		endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(3)	28						TCATGATGATCCCATCAGACT	0.433																																							uc003dxi.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(511-513)CCC>GCC		T-cell receptor interacting molecule							105.0	107.0	106.0					3																	108572674		2203	4300	6503	SO:0001583	missense	50852				cellular defense response|negative regulation of receptor recycling|negative regulation of transport|positive regulation of calcium-mediated signaling|positive regulation of T cell receptor signaling pathway|T cell receptor signaling pathway	integral to plasma membrane|T cell receptor complex	phosphatidylinositol-4,5-bisphosphate 3-kinase activity|transmembrane receptor protein tyrosine kinase adaptor activity	g.chr3:108572674C>G	AJ240084	CCDS33813.1	3q13	2005-05-04	2005-05-04	2005-05-04	ENSG00000163519	ENSG00000163519			30698	protein-coding gene	gene with protein product		604962	"""T cell receptor interacting molecule"""	TCRIM		10663578, 9687533	Standard	NM_016388		Approved	HSPC062, TRIM	uc003dxi.1	Q6PIZ9	OTTHUMG00000159198	ENST00000295756.6:c.511C>G	3.37:g.108572674C>G	ENSP00000295756:p.Pro171Ala					TRAT1_uc010hpx.1_Missense_Mutation_p.P134A	p.P171A	NM_016388	NP_057472	Q6PIZ9	TRAT1_HUMAN			6	655	+			171			Cytoplasmic (Potential).		Q9NZX5	Missense_Mutation	SNP	ENST00000295756.6	37	c.511C>G	CCDS33813.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.257783	0.80246	.	.	ENSG00000163519	ENST00000295756;ENST00000426646	T;T	0.59083	0.39;0.29	5.85	5.85	0.93711	.	0.000000	0.64402	D	0.000006	T	0.75309	0.3832	M	0.69823	2.125	0.42855	D	0.994092	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.77381	-0.2609	10	0.87932	D	0	-16.1306	15.6732	0.77295	0.0:1.0:0.0:0.0	.	134;171	C9JF66;Q6PIZ9	.;TRAT1_HUMAN	A	171;134	ENSP00000295756:P171A;ENSP00000410097:P134A	ENSP00000295756:P171A	P	+	1	0	TRAT1	110055364	0.990000	0.36364	0.874000	0.34290	0.982000	0.71751	4.218000	0.58554	2.768000	0.95171	0.655000	0.94253	CCC		0.433	TRAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353794.1	NM_016388		44	122	0	0	0	0.00361	0	44	122				
DPPA2	151871	broad.mit.edu	37	3	109028078	109028078	+	Missense_Mutation	SNP	T	T	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr3:109028078T>A	ENST00000478945.1	-	4	527	c.281A>T	c.(280-282)aAg>aTg	p.K94M		NM_138815.3	NP_620170.3	Q7Z7J5	DPPA2_HUMAN	developmental pluripotency associated 2	94	SAP. {ECO:0000255|PROSITE- ProRule:PRU00186}.				lung-associated mesenchyme development (GO:0060484)|positive regulation of stem cell proliferation (GO:2000648)|regulation of histone methylation (GO:0031060)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|nucleic acid binding (GO:0003676)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CCGACACACCTTATTAATGGG	0.448																																							uc003dxo.2		NA																	0				ovary(2)|upper_aerodigestive_tract(1)	3						c.(280-282)AAG>ATG		developmental pluripotency associated 2							173.0	176.0	175.0					3																	109028078		2203	4300	6503	SO:0001583	missense	151871					nucleus	nucleic acid binding	g.chr3:109028078T>A	AY283672	CCDS2956.1	3q13.13	2010-05-04			ENSG00000163530	ENSG00000163530			19197	protein-coding gene	gene with protein product	"""cancer/testis antigen 100"""	614445				15583978	Standard	NM_138815		Approved	PESCRG1, CT100	uc003dxo.3	Q7Z7J5	OTTHUMG00000159227	ENST00000478945.1:c.281A>T	3.37:g.109028078T>A	ENSP00000417710:p.Lys94Met						p.K94M	NM_138815	NP_620170	Q7Z7J5	DPPA2_HUMAN			4	528	-			94			SAP.		Q8WVF0	Missense_Mutation	SNP	ENST00000478945.1	37	c.281A>T	CCDS2956.1	.	.	.	.	.	.	.	.	.	.	T	14.50	2.554809	0.45487	.	.	ENSG00000163530	ENST00000478945	T	0.48836	0.8	4.66	2.09	0.27110	DNA-binding SAP (2);	2.007740	0.01812	N	0.033511	T	0.55146	0.1902	L	0.51422	1.61	0.09310	N	1	D	0.57899	0.981	P	0.54270	0.747	T	0.32824	-0.9892	10	0.66056	D	0.02	-0.0289	4.4761	0.11745	0.0:0.1025:0.1984:0.6991	.	94	Q7Z7J5	DPPA2_HUMAN	M	94	ENSP00000417710:K94M	ENSP00000417710:K94M	K	-	2	0	DPPA2	110510768	0.004000	0.15560	0.001000	0.08648	0.037000	0.13140	1.691000	0.37721	0.920000	0.36970	-0.441000	0.05720	AAG		0.448	DPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353938.1	NM_138815		115	158	0	0	0	0.00361	0	115	158				
ZBED2	79413	broad.mit.edu	37	3	111312970	111312970	+	Missense_Mutation	SNP	C	C	G			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr3:111312970C>G	ENST00000317012.4	-	2	1087	c.79G>C	c.(79-81)Gag>Cag	p.E27Q	CD96_ENST00000438817.2_Intron|CD96_ENST00000283285.5_Intron|CD96_ENST00000352690.4_Intron	NM_024508.4	NP_078784.2	Q9BTP6	ZBED2_HUMAN	zinc finger, BED-type containing 2	27							DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(3)|lung(1)|skin(2)	6						TCACTAATCTCTTCCTCCTCC	0.517																																							uc003dxy.2		NA																	0				skin(1)	1						c.(79-81)GAG>CAG		zinc finger, BED domain containing 2							266.0	220.0	236.0					3																	111312970		2203	4300	6503	SO:0001583	missense	79413						DNA binding|metal ion binding	g.chr3:111312970C>G	BC003536	CCDS2960.2	3p13-q13.2	2013-05-03			ENSG00000177494	ENSG00000177494		"""Zinc fingers, BED-type"""	20710	protein-coding gene	gene with protein product		615246				23533661	Standard	NM_024508		Approved	MGC10796	uc003dxy.3	Q9BTP6	OTTHUMG00000074061	ENST00000317012.4:c.79G>C	3.37:g.111312970C>G	ENSP00000321370:p.Glu27Gln					CD96_uc003dxv.2_Intron|CD96_uc003dxw.2_Intron|CD96_uc003dxx.2_Intron|CD96_uc010hpy.1_Intron	p.E27Q	NM_024508	NP_078784	Q9BTP6	ZBED2_HUMAN			2	964	-			27					D3DN62	Missense_Mutation	SNP	ENST00000317012.4	37	c.79G>C	CCDS2960.2	.	.	.	.	.	.	.	.	.	.	C	10.57	1.386991	0.25031	.	.	ENSG00000177494	ENST00000317012	.	.	.	3.16	2.26	0.28386	.	.	.	.	.	T	0.19005	0.0456	N	0.14661	0.345	0.21802	N	0.99954	B	0.23058	0.079	B	0.25987	0.065	T	0.19745	-1.0296	8	0.20046	T	0.44	.	5.4747	0.16690	0.0:0.8436:0.0:0.1564	.	27	Q9BTP6	ZBED2_HUMAN	Q	27	.	ENSP00000321370:E27Q	E	-	1	0	ZBED2	112795660	0.005000	0.15991	0.900000	0.35374	0.806000	0.45545	0.833000	0.27504	1.765000	0.52091	0.563000	0.77884	GAG		0.517	ZBED2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157228.2	NM_024508		52	55	0	0	0	0.00361	0	52	55				
PLCXD2	257068	broad.mit.edu	37	3	111432915	111432915	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr3:111432915C>A	ENST00000477665.1	+	3	1130	c.806C>A	c.(805-807)cCc>cAc	p.P269H	PLCXD2_ENST00000472215.1_3'UTR|PLCXD2_ENST00000393934.3_Missense_Mutation_p.P269H	NM_001185106.1	NP_001172035.1	Q0VAA5	PLCX2_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 2	269					lipid catabolic process (GO:0016042)		phosphoric diester hydrolase activity (GO:0008081)|signal transducer activity (GO:0004871)			endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)	17						ATCCTCACCCCCAGAGTGAAG	0.537																																							uc003dya.2		NA																	0				skin(1)	1						c.(805-807)CCC>CAC		phosphatidylinositol-specific phospholipase C, X							45.0	45.0	45.0					3																	111432915		2203	4300	6503	SO:0001583	missense	257068				intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity	g.chr3:111432915C>A	AK056141	CCDS2961.1, CCDS54619.1	3q13.2	2004-09-09			ENSG00000240891	ENSG00000240891			26462	protein-coding gene	gene with protein product							Standard	NM_001185106		Approved	FLJ31579	uc003dxz.3	Q0VAA5	OTTHUMG00000159279	ENST00000477665.1:c.806C>A	3.37:g.111432915C>A	ENSP00000420686:p.Pro269His					PLCXD2_uc003dyb.2_Missense_Mutation_p.P269H|PLCXD2_uc003dxz.2_Missense_Mutation_p.P269H	p.P269H	NM_001134478	NP_001127950	Q0VAA5	PLCX2_HUMAN			3	1392	+			269					Q96N12	Missense_Mutation	SNP	ENST00000477665.1	37	c.806C>A	CCDS54619.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.667125	0.88251	.	.	ENSG00000240891	ENST00000393934;ENST00000477665	.	.	.	5.5	5.5	0.81552	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);	.	.	.	.	D	0.83830	0.5339	M	0.85945	2.785	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.86274	0.1663	8	0.87932	D	0	-22.2468	16.9188	0.86158	0.0:1.0:0.0:0.0	.	269;269	Q0VAA5;Q0VAA5-2	PLCX2_HUMAN;.	H	269	.	ENSP00000377511:P269H	P	+	2	0	PLCXD2	112915605	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.380000	0.79704	2.584000	0.87258	0.563000	0.77884	CCC		0.537	PLCXD2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354322.1	NM_153268		28	65	1	0	5.09552e-08	0.002096	5.97835e-08	28	65				
HGD	3081	broad.mit.edu	37	3	120393758	120393758	+	Missense_Mutation	SNP	T	T	C			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr3:120393758T>C	ENST00000283871.5	-	3	625	c.166A>G	c.(166-168)Aat>Gat	p.N56D	HGD_ENST00000488183.1_5'UTR	NM_000187.3	NP_000178.2	Q93099	HGD_HUMAN	homogentisate 1,2-dioxygenase	56					cellular nitrogen compound metabolic process (GO:0034641)|L-phenylalanine catabolic process (GO:0006559)|small molecule metabolic process (GO:0044281)|tyrosine catabolic process (GO:0006572)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	homogentisate 1,2-dioxygenase activity (GO:0004411)|metal ion binding (GO:0046872)			cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)	25				GBM - Glioblastoma multiforme(114;0.158)		CTTCTCTTATTGGTGCTCCGT	0.498																																							uc003edw.2		NA																	0					0						c.(166-168)AAT>GAT		homogentisate 1,2-dioxygenase							170.0	166.0	167.0					3																	120393758		2203	4296	6499	SO:0001583	missense	3081				L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	homogentisate 1,2-dioxygenase activity|metal ion binding	g.chr3:120393758T>C		CCDS3000.1	3q	2010-04-27	2010-04-27		ENSG00000113924	ENSG00000113924	1.13.11.5		4892	protein-coding gene	gene with protein product	"""homogentisate oxidase"""	607474	"""homogentisate 1,2-dioxygenase (homogentisate oxidase)"""	AKU		8188241	Standard	NM_000187		Approved	HGO	uc003edw.3	Q93099	OTTHUMG00000159441	ENST00000283871.5:c.166A>G	3.37:g.120393758T>C	ENSP00000283871:p.Asn56Asp						p.N56D	NM_000187	NP_000178	Q93099	HGD_HUMAN		GBM - Glioblastoma multiforme(114;0.158)	3	536	-			56					A8K417|B2R8Z0	Missense_Mutation	SNP	ENST00000283871.5	37	c.166A>G	CCDS3000.1	.	.	.	.	.	.	.	.	.	.	T	28.3	4.909741	0.92107	.	.	ENSG00000113924	ENST00000283871	D	0.99121	-5.45	5.81	5.81	0.92471	Cupin, RmlC-type (1);	0.000000	0.85682	D	0.000000	D	0.99495	0.9820	H	0.96398	3.815	0.80722	D	1	D	0.63880	0.993	D	0.70935	0.971	D	0.98223	1.0479	10	0.87932	D	0	-2.9126	14.1136	0.65139	0.0:0.0:0.0:1.0	.	56	Q93099	HGD_HUMAN	D	56	ENSP00000283871:N56D	ENSP00000283871:N56D	N	-	1	0	HGD	121876448	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.645000	0.74343	2.218000	0.71995	0.377000	0.23210	AAT		0.498	HGD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355410.1			8	193	0	0	0	0.006214	0	8	193				
GATA2	2624	broad.mit.edu	37	3	128204775	128204775	+	Silent	SNP	C	C	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr3:128204775C>T	ENST00000341105.2	-	3	997	c.666G>A	c.(664-666)aaG>aaA	p.K222K	GATA2_ENST00000487848.1_Silent_p.K222K|GATA2_ENST00000430265.2_Silent_p.K222K	NM_032638.4	NP_116027.2	P23769	GATA2_HUMAN	GATA binding protein 2	222					blood coagulation (GO:0007596)|cell differentiation in hindbrain (GO:0021533)|cell fate determination (GO:0001709)|cell maturation (GO:0048469)|central nervous system neuron development (GO:0021954)|commitment of neuronal cell to specific neuron type in forebrain (GO:0021902)|definitive hemopoiesis (GO:0060216)|embryonic placenta development (GO:0001892)|eosinophil fate commitment (GO:0035854)|GABAergic neuron differentiation (GO:0097154)|homeostasis of number of cells within a tissue (GO:0048873)|inner ear morphogenesis (GO:0042472)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fat cell proliferation (GO:0070345)|negative regulation of macrophage differentiation (GO:0045650)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|phagocytosis (GO:0006909)|pituitary gland development (GO:0021983)|positive regulation of angiogenesis (GO:0045766)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of megakaryocyte differentiation (GO:0045654)|positive regulation of phagocytosis (GO:0050766)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of forebrain neuron differentiation (GO:2000977)|regulation of histone acetylation (GO:0035065)|semicircular canal development (GO:0060872)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)|urogenital system development (GO:0001655)|ventral spinal cord interneuron differentiation (GO:0021514)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	C2H2 zinc finger domain binding (GO:0070742)|chromatin binding (GO:0003682)|enhancer sequence-specific DNA binding (GO:0001158)|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 distal enhancer sequence-specific DNA binding (GO:0000980)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(58)|kidney(2)|large_intestine(3)|lung(9)|prostate(3)|skin(1)|urinary_tract(1)	79				GBM - Glioblastoma multiforme(114;0.173)		CACTTTCCATCTTCATGCTCT	0.642			Mis		AML(CML blast transformation)																																		uc003ekm.3		NA		Dom	yes		3	3q21.3	2624	Mis	GATA binding protein 2			L			AML(CML blast transformation)		0				haematopoietic_and_lymphoid_tissue(13)|lung(1)|skin(1)	15						c.(664-666)AAG>AAA		GATA binding protein 2 isoform 1							140.0	128.0	132.0					3																	128204775		2203	4300	6503	SO:0001819	synonymous_variant	2624				blood coagulation|negative regulation of fat cell differentiation|negative regulation of fat cell proliferation|negative regulation of neural precursor cell proliferation|negative regulation of Notch signaling pathway|phagocytosis|positive regulation of angiogenesis|positive regulation of phagocytosis|positive regulation of transcription from RNA polymerase II promoter	nucleoplasm	C2H2 zinc finger domain binding|chromatin binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding	g.chr3:128204775C>T	AF169253	CCDS3049.1, CCDS46903.1	3q21	2014-09-17	2001-11-28		ENSG00000179348	ENSG00000179348		"""GATA zinc finger domain containing"""	4171	protein-coding gene	gene with protein product		137295	"""GATA-binding protein 2"""			1714909	Standard	NM_032638		Approved	NFE1B	uc003eko.2	P23769	OTTHUMG00000159689	ENST00000341105.2:c.666G>A	3.37:g.128204775C>T						GATA2_uc003ekn.3_Silent_p.K222K|GATA2_uc003eko.2_Silent_p.K222K	p.K222K	NM_001145661	NP_001139133	P23769	GATA2_HUMAN		GBM - Glioblastoma multiforme(114;0.173)	4	1101	-			222					D3DNB3|Q53YE0|Q96BH0|Q96BH8|Q9BUJ6	Silent	SNP	ENST00000341105.2	37	c.666G>A	CCDS3049.1																																																																																				0.642	GATA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356925.1	NM_032638		15	74	0	0	0	0.00499	0	15	74				
EFCC1	79825	broad.mit.edu	37	3	128758633	128758633	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr3:128758633C>A	ENST00000480450.1	+	8	1739	c.1739C>A	c.(1738-1740)cCc>cAc	p.P580H	EFCC1_ENST00000436022.2_Missense_Mutation_p.P143H			Q9HA90	EFCC1_HUMAN	EF-hand and coiled-coil domain containing 1	580							calcium ion binding (GO:0005509)										CGGAGACAGCCCTCGGCACCA	0.667																																							uc011bkt.1		NA																	0					0						c.(1738-1740)CCC>CAC		coiled-coil domain containing 48							52.0	50.0	51.0					3																	128758633		2203	4300	6503	SO:0001583	missense	79825							g.chr3:128758633C>A	AK022119	CCDS3054.1, CCDS3054.2	3q21.3	2013-01-11	2013-01-11	2013-01-11	ENSG00000114654	ENSG00000114654		"""EF-hand domain containing"""	25692	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 73"", ""coiled-coil domain containing 48"""	C3orf73, CCDC48			Standard	NM_024768		Approved	FLJ12057	uc011bkt.2	Q9HA90	OTTHUMG00000158996	ENST00000480450.1:c.1739C>A	3.37:g.128758633C>A	ENSP00000420075:p.Pro580His						p.P580H	NM_024768	NP_079044	Q9HA90	CCD48_HUMAN			8	1739	+			580					A8MYE2	Missense_Mutation	SNP	ENST00000480450.1	37	c.1739C>A	CCDS3054.2	.	.	.	.	.	.	.	.	.	.	C	9.757	1.169050	0.21621	.	.	ENSG00000114654	ENST00000480450;ENST00000436022	T;T	0.54479	0.6;0.57	3.94	3.06	0.35304	.	0.674417	0.14464	N	0.317983	T	0.49881	0.1583	L	0.55481	1.735	0.09310	N	1	D	0.61697	0.99	P	0.47162	0.54	T	0.37663	-0.9696	10	0.46703	T	0.11	.	7.4619	0.27300	0.0:0.8784:0.0:0.1216	.	580	Q9HA90	CCD48_HUMAN	H	580;143	ENSP00000420075:P580H;ENSP00000414597:P143H	ENSP00000414597:P143H	P	+	2	0	CCDC48	130241323	0.001000	0.12720	0.001000	0.08648	0.069000	0.16628	1.249000	0.32839	0.855000	0.35359	0.491000	0.48974	CCC		0.667	EFCC1-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352832.1	NM_024768		71	33	1	0	1.15098e-32	0.00361	1.78119e-32	71	33				
SLCO2A1	6578	broad.mit.edu	37	3	133666128	133666128	+	Missense_Mutation	SNP	G	G	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr3:133666128G>A	ENST00000310926.4	-	9	1540	c.1267C>T	c.(1267-1269)Cca>Tca	p.P423S	SLCO2A1_ENST00000493729.1_Missense_Mutation_p.P347S	NM_005630.2	NP_005621.2	Q92959	SO2A1_HUMAN	solute carrier organic anion transporter family, member 2A1	423					lipid transport (GO:0006869)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	lipid transporter activity (GO:0005319)|prostaglandin transmembrane transporter activity (GO:0015132)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(2)	30					Alprostadil(DB00770)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Furosemide(DB00695)|Iloprost(DB01088)|Phenobarbital(DB01174)|Pyruvic acid(DB00119)	GCCACAGTTGGGGTGGAGCAT	0.483																																							uc003eqa.3		NA																	0				central_nervous_system(1)	1						c.(1267-1269)CCA>TCA		solute carrier organic anion transporter family,							100.0	93.0	95.0					3																	133666128		2203	4300	6503	SO:0001583	missense	6578				sodium-independent organic anion transport	integral to plasma membrane|membrane fraction	prostaglandin transmembrane transporter activity|protein binding	g.chr3:133666128G>A		CCDS3084.1	3q21	2013-05-22	2003-11-25	2003-11-26	ENSG00000174640	ENSG00000174640		"""Solute carriers"""	10955	protein-coding gene	gene with protein product		601460	"""solute carrier family 21 (prostaglandin transporter), member 2"", ""matrin F/G 1"""	SLC21A2, MATR1		8787677, 9618293	Standard	NM_005630		Approved	PGT, OATP2A1	uc003eqa.4	Q92959	OTTHUMG00000159745	ENST00000310926.4:c.1267C>T	3.37:g.133666128G>A	ENSP00000311291:p.Pro423Ser					SLCO2A1_uc003eqb.3_Missense_Mutation_p.P347S|SLCO2A1_uc011blv.1_Missense_Mutation_p.P242S	p.P423S	NM_005630	NP_005621	Q92959	SO2A1_HUMAN			9	1541	-			423			Extracellular (Potential).		Q86V98|Q8IUN2	Missense_Mutation	SNP	ENST00000310926.4	37	c.1267C>T	CCDS3084.1	.	.	.	.	.	.	.	.	.	.	G	10.53	1.376863	0.24857	.	.	ENSG00000174640	ENST00000310926;ENST00000493729	T;T	0.58652	0.32;0.32	5.59	4.71	0.59529	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.440036	0.26293	N	0.025217	T	0.30198	0.0757	N	0.04669	-0.19	0.19300	N	0.999975	P;B;B	0.35944	0.529;0.007;0.02	B;B;B	0.31869	0.137;0.005;0.018	T	0.14172	-1.0482	10	0.14252	T	0.57	.	11.4297	0.50032	0.0716:0.1341:0.7943:0.0	.	242;347;423	B7Z8J8;E7EU40;Q92959	.;.;SO2A1_HUMAN	S	423;347	ENSP00000311291:P423S;ENSP00000418893:P347S	ENSP00000311291:P423S	P	-	1	0	SLCO2A1	135148818	1.000000	0.71417	0.122000	0.21767	0.009000	0.06853	5.014000	0.64029	1.325000	0.45301	0.655000	0.94253	CCA		0.483	SLCO2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357131.1	NM_005630		15	66	0	0	0	0.001882	0	15	66				
CLSTN2	64084	broad.mit.edu	37	3	140178588	140178588	+	Missense_Mutation	SNP	T	T	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr3:140178588T>A	ENST00000458420.3	+	7	1389	c.1199T>A	c.(1198-1200)aTc>aAc	p.I400N	RP11-68L1.1_ENST00000483759.2_RNA|RP11-68L1.2_ENST00000503357.1_RNA	NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	400					homophilic cell adhesion (GO:0007156)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						AAGGAAACCATCCTCTGCAAC	0.577										HNSCC(16;0.037)																											GBM(45;858 913 3709 36904 37282)	GBM(45;858 913 3709 36904 37282)	uc003etn.2		NA																	0				skin(3)|large_intestine(2)|pancreas(1)|central_nervous_system(1)	7						c.(1198-1200)ATC>AAC		calsyntenin 2 precursor							82.0	74.0	76.0					3																	140178588		2203	4300	6503	SO:0001583	missense	64084				homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding	g.chr3:140178588T>A	AJ278018	CCDS3112.1	3q23	2011-07-01			ENSG00000158258	ENSG00000158258		"""Cadherins / Cadherin-related"""	17448	protein-coding gene	gene with protein product	"""cadherin-related family member 13"""	611323				12498782	Standard	NM_022131		Approved	CSTN2, CS2, FLJ39113, CDHR13	uc003etn.3	Q9H4D0	OTTHUMG00000160139	ENST00000458420.3:c.1199T>A	3.37:g.140178588T>A	ENSP00000402460:p.Ile400Asn	HNSCC(16;0.037)				CLSTN2_uc003etm.2_Missense_Mutation_p.I400N	p.I400N	NM_022131	NP_071414	Q9H4D0	CSTN2_HUMAN			7	1389	+			400			Extracellular (Potential).		B2RCW5|D3DNF4|Q3SX54|Q3ZB76|Q5UE56|Q96HZ2|Q9BSS0	Missense_Mutation	SNP	ENST00000458420.3	37	c.1199T>A	CCDS3112.1	.	.	.	.	.	.	.	.	.	.	T	24.5	4.539695	0.85917	.	.	ENSG00000158258	ENST00000458420	T	0.03242	4.0	5.41	5.41	0.78517	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.126323	0.52532	D	0.000071	T	0.16642	0.0400	M	0.77616	2.38	0.58432	D	0.999998	D	0.67145	0.996	D	0.64877	0.93	T	0.00152	-1.1984	10	0.87932	D	0	-18.9808	13.4033	0.60896	0.0:0.0:0.0:1.0	.	400	Q9H4D0	CSTN2_HUMAN	N	400	ENSP00000402460:I400N	ENSP00000402460:I400N	I	+	2	0	CLSTN2	141661278	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.040000	0.89188	2.064000	0.61679	0.533000	0.62120	ATC		0.577	CLSTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359393.3	NM_022131		12	100	0	0	0	0.000978	0	12	100				
CLSTN2	64084	broad.mit.edu	37	3	140281710	140281711	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	GG	GG	-	-	GG	GG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr3:140281710_140281711GG>TT	ENST00000458420.3	+	14	2460_2461	c.2270_2271GG>TT	c.(2269-2271)tGG>tTT	p.W757F		NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	757					homophilic cell adhesion (GO:0007156)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						TACCGCAACTGGCGTCCGGCTT	0.559										HNSCC(16;0.037)																											GBM(45;858 913 3709 36904 37282)	GBM(45;858 913 3709 36904 37282)	uc003etn.2		NA																	0				skin(3)|large_intestine(2)|pancreas(1)|central_nervous_system(1)	7						c.(2269-2271)TGG>TTT		calsyntenin 2 precursor																																				SO:0001583	missense	64084				homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding	g.chr3:140281710_140281711GG>TT	AJ278018	CCDS3112.1	3q23	2011-07-01			ENSG00000158258	ENSG00000158258		"""Cadherins / Cadherin-related"""	17448	protein-coding gene	gene with protein product	"""cadherin-related family member 13"""	611323				12498782	Standard	NM_022131		Approved	CSTN2, CS2, FLJ39113, CDHR13	uc003etn.3	Q9H4D0	OTTHUMG00000160139	Exception_encountered	3.37:g.140281710_140281711delinsTT	ENSP00000402460:p.Trp757Phe	HNSCC(16;0.037)					p.W757F	NM_022131	NP_071414	Q9H4D0	CSTN2_HUMAN			14	2460_2461	+			757			Extracellular (Potential).		B2RCW5|D3DNF4|Q3SX54|Q3ZB76|Q5UE56|Q96HZ2|Q9BSS0	Missense_Mutation	DNP	ENST00000458420.3	37	c.2270_2271GG>TT	CCDS3112.1																																																																																				0.559	CLSTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359393.3	NM_022131		14	48	0	0	0	0.004672	0	14	48				
RASA2	5922	broad.mit.edu	37	3	141328870	141328870	+	Silent	SNP	T	T	C	rs200456263		TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr3:141328870T>C	ENST00000452898.1	+	23	2519	c.2484T>C	c.(2482-2484)taT>taC	p.Y828Y	RASA2_ENST00000286364.3_Silent_p.Y827Y	NM_006506.2	NP_006497.2	Q15283	RASA2_HUMAN	RAS p21 protein activator 2	828					intracellular signal transduction (GO:0035556)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	metal ion binding (GO:0046872)|Ras GTPase activator activity (GO:0005099)			NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	34						ATGAAAAATATAGGAAGAAAA	0.323													T|||	1	0.000199681	0.0008	0.0	5008	,	,		14590	0.0		0.0	False		,,,				2504	0.0						uc003etz.1		NA																	0				ovary(2)|lung(2)|breast(1)|skin(1)	6						c.(2479-2481)TAT>TAC		RAS p21 protein activator 2		T		1,4403	2.1+/-5.4	0,1,2201	59.0	62.0	61.0		2481	-0.6	1.0	3		61	0,8600		0,0,4300	no	coding-synonymous	RASA2	NM_006506.2		0,1,6501	CC,CT,TT		0.0,0.0227,0.0077		827/850	141328870	1,13003	2202	4300	6502	SO:0001819	synonymous_variant	5922				intracellular signal transduction|negative regulation of Ras protein signal transduction	intracellular membrane-bounded organelle|intrinsic to internal side of plasma membrane|perinuclear region of cytoplasm	metal ion binding|Ras GTPase activator activity	g.chr3:141328870T>C	AF115573	CCDS3117.1	3q22-q23	2013-01-10			ENSG00000155903	ENSG00000155903		"""Pleckstrin homology (PH) domain containing"""	9872	protein-coding gene	gene with protein product		601589				8699317	Standard	NM_006506		Approved	GAP1M	uc003etz.1	Q15283	OTTHUMG00000160221	ENST00000452898.1:c.2484T>C	3.37:g.141328870T>C						RASA2_uc010huq.1_Silent_p.Y831Y|RASA2_uc003eua.1_Silent_p.Y828Y|uc003eub.2_5'Flank	p.Y827Y	NM_006506	NP_006497	Q15283	RASA2_HUMAN			23	2481	+			827					A8K7K1|G3V0F9|O00695|Q15284|Q92594|Q99577|Q9UEQ2	Silent	SNP	ENST00000452898.1	37	c.2481T>C																																																																																					0.323	RASA2-201	KNOWN	basic	protein_coding	protein_coding		NM_006506		50	16	0	0	0	0.00361	0	50	16				
PLSCR1	5359	broad.mit.edu	37	3	146239458	146239458	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr3:146239458C>A	ENST00000342435.4	-	7	1021	c.611G>T	c.(610-612)gGt>gTt	p.G204V	PLSCR1_ENST00000448205.1_Intron|PLSCR1_ENST00000487389.1_Missense_Mutation_p.G197V|PLSCR1_ENST00000448787.2_Missense_Mutation_p.G123V	NM_021105.2	NP_066928.1	O15162	PLS1_HUMAN	phospholipid scramblase 1	204					acute-phase response (GO:0006953)|apoptotic process (GO:0006915)|defense response to virus (GO:0051607)|negative regulation of viral genome replication (GO:0045071)|phosphatidylserine biosynthetic process (GO:0006659)|phospholipid scrambling (GO:0017121)|platelet activation (GO:0030168)|positive regulation of DNA topoisomerase (ATP-hydrolyzing) activity (GO:2000373)|positive regulation of gene expression (GO:0010628)|positive regulation of innate immune response (GO:0045089)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of Fc receptor mediated stimulatory signaling pathway (GO:0060368)|regulation of mast cell activation (GO:0033003)|response to interferon-beta (GO:0035456)	cytosol (GO:0005829)|extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|CD4 receptor binding (GO:0042609)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|epidermal growth factor receptor binding (GO:0005154)|phospholipid scramblase activity (GO:0017128)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|SH3 domain binding (GO:0017124)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)	15						AATAACATAACCTATTGGTAC	0.353																																							uc003evx.3		NA																	0				ovary(2)	2						c.(610-612)GGT>GTT		phospholipid scramblase 1							133.0	131.0	132.0					3																	146239458		2203	4300	6503	SO:0001583	missense	5359				phospholipid scrambling|platelet activation|response to virus	integral to membrane|plasma membrane	calcium ion binding|phospholipid scramblase activity|SH3 domain binding	g.chr3:146239458C>A	AF098642	CCDS3135.1	3q23	2004-02-27			ENSG00000188313	ENSG00000188313			9092	protein-coding gene	gene with protein product		604170				9218461	Standard	NM_021105		Approved	MMTRA1B	uc003evx.4	O15162	OTTHUMG00000159427	ENST00000342435.4:c.611G>T	3.37:g.146239458C>A	ENSP00000345494:p.Gly204Val					PLSCR1_uc003evy.3_Missense_Mutation_p.G197V|PLSCR1_uc011bnn.1_Missense_Mutation_p.G123V|PLSCR1_uc003evz.3_Intron	p.G204V	NM_021105	NP_066928	O15162	PLS1_HUMAN			7	999	-			204			Cytoplasmic.		B2R8H8|B4DTE8	Missense_Mutation	SNP	ENST00000342435.4	37	c.611G>T	CCDS3135.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	22.8|22.8	4.334869|4.334869	0.81801|0.81801	.|.	.|.	ENSG00000188313|ENSG00000188313	ENST00000342435;ENST00000487389;ENST00000448787;ENST00000462666;ENST00000486631;ENST00000472349|ENST00000483300	T;T;T;T;T;T|.	0.65916|.	-0.18;-0.18;-0.18;-0.18;-0.18;-0.18|.	5.18|5.18	5.18|5.18	0.71444|0.71444	.|.	0.000000|.	0.35870|.	U|.	0.002927|.	D|D	0.90270|0.90270	0.6957|0.6957	H|H	0.97758|0.97758	4.07|4.07	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	1.0;1.0|.	D|D	0.93786|0.93786	0.7088|0.7088	10|5	0.87932|.	D|.	0|.	.|.	18.7133|18.7133	0.91666|0.91666	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	123;204|.	B4DTE8;O15162|.	.;PLS1_HUMAN|.	V|F	204;197;123;180;123;204|71	ENSP00000345494:G204V;ENSP00000417792:G197V;ENSP00000411675:G123V;ENSP00000418103:G180V;ENSP00000418550:G123V;ENSP00000420523:G204V|.	ENSP00000345494:G204V|.	G|V	-|-	2|1	0|0	PLSCR1|PLSCR1	147722148|147722148	1.000000|1.000000	0.71417|0.71417	0.950000|0.950000	0.38849|0.38849	0.838000|0.838000	0.47535|0.47535	5.713000|5.713000	0.68415|0.68415	2.414000|2.414000	0.81942|0.81942	0.655000|0.655000	0.94253|0.94253	GGT|GTT		0.353	PLSCR1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355257.2	NM_021105		18	32	1	0	4.35082e-09	0.010504	5.23863e-09	18	32				
RSRC1	51319	broad.mit.edu	37	3	158072675	158072675	+	Silent	SNP	A	A	G			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr3:158072675A>G	ENST00000295930.3	+	6	723	c.561A>G	c.(559-561)ctA>ctG	p.L187L	RSRC1_ENST00000464171.1_Silent_p.L129L|RSRC1_ENST00000480820.1_Silent_p.L187L|RSRC1_ENST00000312179.6_Silent_p.L129L|RSRC1_ENST00000475278.2_Silent_p.L187L	NM_001271838.1|NM_016625.2	NP_001258767.1|NP_057709.2	Q96IZ7	RSRC1_HUMAN	arginine/serine-rich coiled-coil 1	187					mRNA splicing, via spliceosome (GO:0000398)|nucleocytoplasmic transport (GO:0006913)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)				cervix(1)|endometrium(2)|large_intestine(3)|lung(11)|upper_aerodigestive_tract(1)	18			Lung(72;0.00416)|LUSC - Lung squamous cell carcinoma(72;0.00575)			AAGCCAGACTACAGCTGGTTC	0.363																																							uc003fbt.2		NA																	0					0						c.(559-561)CTA>CTG		arginine/serine-rich coiled-coil 1							29.0	30.0	30.0					3																	158072675		2203	4299	6502	SO:0001819	synonymous_variant	51319				nucleocytoplasmic transport	cytoplasm|nuclear speck	protein binding	g.chr3:158072675A>G	AF208853	CCDS3181.1, CCDS63822.1	3q25.32	2009-09-09			ENSG00000174891	ENSG00000174891			24152	protein-coding gene	gene with protein product	"""splicing factor, arginine/serine-rich 21"""	613352				15798186, 19065146	Standard	NM_001271838		Approved	MGC12197, BM-011, SRrp53, SFRS21	uc003fbu.2	Q96IZ7	OTTHUMG00000158758	ENST00000295930.3:c.561A>G	3.37:g.158072675A>G						RSRC1_uc011bou.1_Silent_p.L129L|RSRC1_uc003fbu.1_Silent_p.L187L|RSRC1_uc003fbv.2_Silent_p.L129L	p.L187L	NM_016625	NP_057709	Q96IZ7	RSRC1_HUMAN	Lung(72;0.00416)|LUSC - Lung squamous cell carcinoma(72;0.00575)		6	672	+			187			Potential.		A8K2R9|Q96QK2|Q9NZE5	Silent	SNP	ENST00000295930.3	37	c.561A>G	CCDS3181.1	.	.	.	.	.	.	.	.	.	.	A	9.263	1.043811	0.19748	.	.	ENSG00000174891	ENST00000482822	.	.	.	5.88	-11.8	0.00035	.	.	.	.	.	T	0.39989	0.1099	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.48445	-0.9035	4	.	.	.	.	5.0793	0.14647	0.1287:0.1638:0.4645:0.243	.	.	.	.	A	81	.	.	T	+	1	0	RSRC1	159555369	0.003000	0.15002	0.355000	0.25773	0.995000	0.86356	-1.979000	0.01493	-2.117000	0.00829	-0.274000	0.10170	ACA		0.363	RSRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352063.2	NM_016625		7	10	0	0	0	0.008291	0	7	10				
SMC4	10051	broad.mit.edu	37	3	160150941	160150941	+	Missense_Mutation	SNP	G	G	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr3:160150941G>A	ENST00000357388.3	+	23	4109	c.3658G>A	c.(3658-3660)Gag>Aag	p.E1220K	SMC4_ENST00000462787.1_Missense_Mutation_p.E1162K|SMC4_ENST00000344722.5_Missense_Mutation_p.E1220K|SMC4_ENST00000360111.2_Missense_Mutation_p.E1162K|SMC4_ENST00000469762.1_Missense_Mutation_p.E1195K|RP11-432B6.3_ENST00000483754.1_Intron|TRIM59_ENST00000543469.1_3'UTR	NM_001002800.1	NP_001002800.1	Q9NTJ3	SMC4_HUMAN	structural maintenance of chromosomes 4	1220	Ala/Asp-rich (DA-box).				kinetochore organization (GO:0051383)|meiotic chromosome condensation (GO:0010032)|meiotic chromosome segregation (GO:0045132)|mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)|mitotic sister chromatid segregation (GO:0000070)	condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein heterodimerization activity (GO:0046982)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(15)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			CTTCATGGATGAGATTGATGC	0.368																																							uc003fdh.2		NA																	0				ovary(1)|breast(1)	2						c.(3658-3660)GAG>AAG		SMC4 structural maintenance of chromosomes							153.0	148.0	150.0					3																	160150941		2203	4300	6503	SO:0001583	missense	10051				cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	ATP binding|protein heterodimerization activity	g.chr3:160150941G>A	AF092564	CCDS3189.1, CCDS75046.1	3q26.1	2006-07-06	2006-07-06	2006-07-06	ENSG00000113810	ENSG00000113810		"""Structural maintenance of chromosomes proteins"""	14013	protein-coding gene	gene with protein product		605575	"""SMC4 (structural maintenance of chromosomes 4, yeast)-like 1"", ""SMC4 structural maintenance of chromosomes 4-like 1 (yeast)"""	SMC4L1		9789013, 10319587	Standard	NM_005496		Approved	hCAP-C, CAP-C	uc003fdh.3	Q9NTJ3	OTTHUMG00000159006	ENST00000357388.3:c.3658G>A	3.37:g.160150941G>A	ENSP00000349961:p.Glu1220Lys					IFT80_uc003fda.2_Intron|SMC4_uc003fdi.2_Missense_Mutation_p.E1195K|SMC4_uc003fdj.2_Missense_Mutation_p.E1220K|SMC4_uc010hwd.2_Missense_Mutation_p.E1162K|SMC4_uc003fdl.2_Missense_Mutation_p.E923K	p.E1220K	NM_001002800	NP_001002800	Q9NTJ3	SMC4_HUMAN	Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)		23	3771	+			1220			Ala/Asp-rich (DA-box).		A6NLT9|D3DNL8|O95752|Q8NDL4|Q9UNT9	Missense_Mutation	SNP	ENST00000357388.3	37	c.3658G>A	CCDS3189.1	.	.	.	.	.	.	.	.	.	.	G	36	5.775678	0.96922	.	.	ENSG00000113810	ENST00000357388;ENST00000360111;ENST00000469762;ENST00000462787;ENST00000344722;ENST00000545277	T;T;T;T;T	0.41758	0.99;0.99;0.99;0.99;0.99	5.83	5.83	0.93111	RecF/RecN/SMC (1);	0.000000	0.85682	D	0.000000	T	0.77032	0.4071	H	0.95294	3.65	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.999;0.999	D;D;D;D	0.87578	0.992;0.998;0.996;0.985	T	0.83346	-0.0005	10	0.87932	D	0	-21.6854	20.1338	0.98010	0.0:0.0:1.0:0.0	.	1162;1195;1195;1220	Q9NTJ3-2;B3KXX5;E9PD53;Q9NTJ3	.;.;.;SMC4_HUMAN	K	1220;1162;1195;1162;1220;814	ENSP00000349961:E1220K;ENSP00000353225:E1162K;ENSP00000417964:E1195K;ENSP00000420734:E1162K;ENSP00000341382:E1220K	ENSP00000341382:E1220K	E	+	1	0	SMC4	161633635	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.824000	0.99380	2.770000	0.95276	0.655000	0.94253	GAG		0.368	SMC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352862.1			22	133	0	0	0	0.00632	0	22	133				
NCEH1	57552	broad.mit.edu	37	3	172365893	172365893	+	Silent	SNP	G	G	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr3:172365893G>T	ENST00000475381.1	-	2	383	c.150C>A	c.(148-150)atC>atA	p.I50I	NCEH1_ENST00000273512.3_Silent_p.I82I|NCEH1_ENST00000538775.1_Silent_p.I82I|NCEH1_ENST00000543711.1_Intron			Q6PIU2	NCEH1_HUMAN	neutral cholesterol ester hydrolase 1	50					lipid catabolic process (GO:0016042)|protein dephosphorylation (GO:0006470)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carboxylic ester hydrolase activity (GO:0052689)|phosphate ion binding (GO:0042301)|serine hydrolase activity (GO:0017171)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(1)	15						CCAGGTAGTGGATCAGGTTAC	0.522																																							uc011bpx.1		NA																	0					0						c.(244-246)ATC>ATA		arylacetamide deacetylase-like 1 isoform a							58.0	59.0	59.0					3																	172365893		2203	4300	6503	SO:0001819	synonymous_variant	57552				lipid catabolic process	endoplasmic reticulum|integral to membrane|microsome	carboxylesterase activity	g.chr3:172365893G>T	AB037784	CCDS54681.1, CCDS54682.1	3q26.31	2009-07-23	2009-07-23	2009-07-23	ENSG00000144959	ENSG00000144959			29260	protein-coding gene	gene with protein product		613234	"""arylacetamide deacetylase-like 1"""	AADACL1		10718198	Standard	NM_001146276		Approved	KIAA1363, NCEH	uc011bpx.2	Q6PIU2	OTTHUMG00000156872	ENST00000475381.1:c.150C>A	3.37:g.172365893G>T						NCEH1_uc003fig.2_Silent_p.I82I|NCEH1_uc011bpw.1_5'UTR|NCEH1_uc011bpy.1_Intron	p.I82I	NM_001146276	NP_001139748	Q6PIU2	NCEH1_HUMAN			2	384	-			50			Lumenal (Potential).		B7Z2K4|B7Z3A1|B7Z5U2|B7Z906|B7ZAW6|F5H7K4|Q86WZ1|Q9P2I4	Silent	SNP	ENST00000475381.1	37	c.246C>A		.	.	.	.	.	.	.	.	.	.	G	9.070	0.996670	0.19043	.	.	ENSG00000144959	ENST00000424772	.	.	.	5.85	-9.53	0.00575	.	.	.	.	.	T	0.46386	0.1390	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.55667	-0.8105	4	.	.	.	-12.4547	8.223	0.31552	0.2401:0.0673:0.5687:0.1239	.	.	.	.	Y	73	.	.	S	-	2	0	NCEH1	173848587	0.327000	0.24678	0.897000	0.35233	0.777000	0.43975	-0.558000	0.05978	-1.206000	0.02641	-0.262000	0.10625	TCC		0.522	NCEH1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000346367.3	NM_020792		13	65	1	0	2.48551e-13	0.00499	3.24854e-13	13	65				
ZNF639	51193	broad.mit.edu	37	3	179051405	179051405	+	Missense_Mutation	SNP	A	A	C			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr3:179051405A>C	ENST00000326361.3	+	7	1098	c.653A>C	c.(652-654)gAc>gCc	p.D218A	ZNF639_ENST00000496856.1_Missense_Mutation_p.D218A|ZNF639_ENST00000484866.1_Missense_Mutation_p.D218A|ZNF639_ENST00000466663.1_3'UTR	NM_016331.1	NP_057415.1	Q9UID6	ZN639_HUMAN	zinc finger protein 639	218					negative regulation by host of viral transcription (GO:0043922)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of cell growth (GO:0030307)|transcription, DNA-templated (GO:0006351)|viral entry into host cell (GO:0046718)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein self-association (GO:0043621)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(10)|urinary_tract(1)	16	all_cancers(143;7.9e-17)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0923)			TATTTTTCTGACTTAAAGCAG	0.378																																							uc003fjq.1		NA																	0					0						c.(652-654)GAC>GCC		zinc finger protein 639							60.0	58.0	59.0					3																	179051405		2203	4300	6503	SO:0001583	missense	51193				initiation of viral infection|negative regulation by host of viral transcription|negative regulation of transcription, DNA-dependent|positive regulation by host of viral transcription|positive regulation of cell growth|positive regulation of transcription, DNA-dependent	nucleus	protein self-association|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr3:179051405A>C	BC020500	CCDS3227.1	3q27.1	2010-03-26			ENSG00000121864	ENSG00000121864		"""Zinc fingers, C2H2-type"""	30950	protein-coding gene	gene with protein product	"""zinc finger amplified in esophageal squamous cell carcinomas 1"""					14522885	Standard	NM_016331		Approved	ANC-2H01, ZASC1	uc003fjr.1	Q9UID6	OTTHUMG00000157439	ENST00000326361.3:c.653A>C	3.37:g.179051405A>C	ENSP00000325634:p.Asp218Ala					ZNF639_uc003fjr.1_Missense_Mutation_p.D218A	p.D218A	NM_016331	NP_057415	Q9UID6	ZN639_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0923)		6	996	+	all_cancers(143;7.9e-17)|Ovarian(172;0.0172)|Breast(254;0.155)		218			C2H2-type 1.		A9X3Z9|D3DNR3	Missense_Mutation	SNP	ENST00000326361.3	37	c.653A>C	CCDS3227.1	.	.	.	.	.	.	.	.	.	.	A	18.41	3.618523	0.66787	.	.	ENSG00000121864	ENST00000496856;ENST00000326361;ENST00000466264;ENST00000484866	T;T;T;T	0.76448	-1.02;-1.02;-1.02;-1.02	5.87	5.87	0.94306	Zinc finger, C2H2-like (1);	0.000000	0.85682	D	0.000000	D	0.82563	0.5064	L	0.36672	1.1	0.44048	D	0.996781	D	0.76494	0.999	D	0.83275	0.996	T	0.79543	-0.1760	10	0.24483	T	0.36	.	16.5764	0.84681	1.0:0.0:0.0:0.0	.	218	Q9UID6	ZN639_HUMAN	A	218	ENSP00000417740:D218A;ENSP00000325634:D218A;ENSP00000419650:D218A;ENSP00000418766:D218A	ENSP00000325634:D218A	D	+	2	0	ZNF639	180534099	1.000000	0.71417	0.988000	0.46212	0.990000	0.78478	5.751000	0.68720	2.371000	0.80710	0.533000	0.62120	GAC		0.378	ZNF639-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348855.1	NM_016331		57	18	0	0	0	0.00361	0	57	18				
MASP1	5648	broad.mit.edu	37	3	186969535	186969535	+	Missense_Mutation	SNP	C	C	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr3:186969535C>T	ENST00000337774.5	-	7	1287	c.898G>A	c.(898-900)Gag>Aag	p.E300K	MASP1_ENST00000169293.6_Missense_Mutation_p.E300K|MASP1_ENST00000296280.6_Missense_Mutation_p.E300K|MASP1_ENST00000392472.2_Missense_Mutation_p.E187K|MASP1_ENST00000495249.1_Intron|MASP1_ENST00000392470.2_Missense_Mutation_p.E274K	NM_001879.5	NP_001870.3	P48740	MASP1_HUMAN	mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)	300	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation (GO:0006956)|complement activation, lectin pathway (GO:0001867)|innate immune response (GO:0045087)|negative regulation of complement activation (GO:0045916)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|peptidase activity (GO:0008233)|protein homodimerization activity (GO:0042803)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	60	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)		TCTGGGCACTCATTTCCTGGT	0.493																																							uc003frh.1		NA																	0				ovary(2)|breast(1)|liver(1)	4						c.(898-900)GAG>AAG		mannan-binding lectin serine protease 1 isoform							101.0	95.0	97.0					3																	186969535		2203	4300	6503	SO:0001583	missense	5648				complement activation, lectin pathway|negative regulation of complement activation|proteolysis	extracellular space	calcium ion binding|calcium-dependent protein binding|protein binding|protein homodimerization activity|serine-type endopeptidase activity	g.chr3:186969535C>T	D28593	CCDS33907.1, CCDS33908.1, CCDS33909.1	3q27-q28	2014-09-17	2005-08-17		ENSG00000127241	ENSG00000127241		"""Serine peptidases / Serine peptidases"""	6901	protein-coding gene	gene with protein product		600521	"""mannan-binding lectin serine protease 1 (C4/C2 activating component of Ra-reactive factor)"""	CRARF, PRSS5		8018603, 8240317	Standard	NR_033519		Approved	MASP	uc003fri.3	P48740	OTTHUMG00000156461	ENST00000337774.5:c.898G>A	3.37:g.186969535C>T	ENSP00000336792:p.Glu300Lys					MASP1_uc003fri.2_Missense_Mutation_p.E300K|MASP1_uc003frj.2_Missense_Mutation_p.E269K|MASP1_uc003frk.1_Missense_Mutation_p.E300K|MASP1_uc011bse.1_Missense_Mutation_p.E274K	p.E300K	NM_001879	NP_001870	P48740	MASP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)	7	1230	-	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		300			Sushi 1.		A8K542|A8K6M1|B4E2L7|O95570|Q68D21|Q8IUV8|Q96RS4|Q9UF09	Missense_Mutation	SNP	ENST00000337774.5	37	c.898G>A	CCDS33907.1	.	.	.	.	.	.	.	.	.	.	C	12.50	1.955987	0.34471	.	.	ENSG00000127241	ENST00000337774;ENST00000296280;ENST00000392472;ENST00000541896;ENST00000169293;ENST00000392470	T;T;T;T;T	0.75704	-0.96;-0.96;-0.96;-0.56;-0.56	5.9	4.04	0.47022	Complement control module (2);Sushi/SCR/CCP (1);	0.415639	0.28312	N	0.015806	T	0.56001	0.1956	N	0.25094	0.71	0.21579	N	0.999635	B;B;B;B;B	0.12013	0.005;0.001;0.001;0.0;0.0	B;B;B;B;B	0.10450	0.005;0.004;0.003;0.004;0.002	T	0.28106	-1.0054	10	0.18710	T	0.47	.	8.8624	0.35265	0.1265:0.5702:0.3032:0.0	.	274;300;187;300;300	F8W876;P48740-3;P48740-4;P48740-2;P48740	.;.;.;.;MASP1_HUMAN	K	300;300;187;187;300;274	ENSP00000336792:E300K;ENSP00000296280:E300K;ENSP00000376264:E187K;ENSP00000169293:E300K;ENSP00000376262:E274K	ENSP00000169293:E300K	E	-	1	0	MASP1	188452229	0.827000	0.29292	0.972000	0.41901	0.972000	0.66771	1.152000	0.31663	2.788000	0.95919	0.650000	0.86243	GAG		0.493	MASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344262.1	NM_001879		8	65	0	0	0	0.006214	0	8	65				
NRROS	375387	broad.mit.edu	37	3	196386878	196386878	+	Nonsense_Mutation	SNP	G	G	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr3:196386878G>T	ENST00000328557.4	+	3	567	c.364G>T	c.(364-366)Gaa>Taa	p.E122*		NM_198565.1	NP_940967.1	Q86YC3	NRROS_HUMAN	negative regulator of reactive oxygen species	122					immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|superoxide metabolic process (GO:0006801)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)											AGAGAACTACGAAGAGACGGC	0.667																																							uc003fwv.2		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(364-366)GAA>TAA		leucine rich repeat containing 33 precursor							24.0	27.0	26.0					3																	196386878		2203	4300	6503	SO:0001587	stop_gained	375387					integral to membrane		g.chr3:196386878G>T	AY358322	CCDS3319.1	3q29	2013-07-02	2013-07-02	2013-07-02	ENSG00000174004	ENSG00000174004			24613	protein-coding gene	gene with protein product		615322	"""leucine rich repeat containing 33"""	LRRC33		12975309	Standard	NM_198565		Approved	UNQ3030, ELLP3030, MGC50789, GARPL1	uc003fwv.3	Q86YC3	OTTHUMG00000155569	ENST00000328557.4:c.364G>T	3.37:g.196386878G>T	ENSP00000328625:p.Glu122*						p.E122*	NM_198565	NP_940967	Q86YC3	LRC33_HUMAN	Epithelial(36;1.9e-23)|all cancers(36;1.76e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00326)	3	468	+	all_cancers(143;8.88e-09)|Ovarian(172;0.0634)|Breast(254;0.135)		122			Extracellular (Potential).|LRR 3.			Nonsense_Mutation	SNP	ENST00000328557.4	37	c.364G>T	CCDS3319.1	.	.	.	.	.	.	.	.	.	.	A	13.95	2.389018	0.42308	.	.	ENSG00000174004	ENST00000328557	.	.	.	6.07	-0.59	0.11679	.	0.940614	0.09077	N	0.851848	.	.	.	.	.	.	0.37732	D	0.925298	.	.	.	.	.	.	.	.	.	.	0.06236	T	0.91	.	1.4282	0.02328	0.2575:0.3213:0.2681:0.1531	.	.	.	.	X	122	.	ENSP00000328625:E122X	E	+	1	0	LRRC33	197871275	0.000000	0.05858	0.438000	0.26821	0.029000	0.11900	-0.129000	0.10515	-0.331000	0.08501	-0.254000	0.11334	GAA		0.667	NRROS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340676.1	NM_198565		12	20	1	0	1.61879e-10	0.001368	2.01649e-10	12	20				
SPON2	10417	broad.mit.edu	37	4	1161317	1161317	+	Silent	SNP	C	C	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr4:1161317C>T	ENST00000290902.5	-	6	1271	c.939G>A	c.(937-939)ggG>ggA	p.G313G	SPON2_ENST00000431380.1_Silent_p.G313G|RP11-20I20.4_ENST00000609548.1_RNA	NM_012445.3	NP_036577	Q9BUD6	SPON2_HUMAN	spondin 2, extracellular matrix protein	313	TSP type-1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|innate immune response (GO:0045087)	extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|pancreas(1)|skin(1)	9			OV - Ovarian serous cystadenocarcinoma(23;0.00805)	UCEC - Uterine corpus endometrioid carcinoma (64;0.139)|Colorectal(103;0.19)		GGCAGGGGCTCCCGTTGTTGG	0.687											OREG0016030	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc003gcn.3		NA																	0				central_nervous_system(1)	1						c.(937-939)GGG>GGA		spondin 2, extracellular matrix protein							59.0	64.0	63.0					4																	1161317		2203	4300	6503	SO:0001819	synonymous_variant	10417				axon guidance|cell adhesion|innate immune response	proteinaceous extracellular matrix	metal ion binding	g.chr4:1161317C>T	AB027466	CCDS3347.1	4p16.3	2008-07-29			ENSG00000159674	ENSG00000159674			11253	protein-coding gene	gene with protein product	"""Mindin"", ""M-spondin"""	605918				10512675, 15094111	Standard	NM_012445		Approved	DIL1	uc003gco.4	Q9BUD6	OTTHUMG00000089002	ENST00000290902.5:c.939G>A	4.37:g.1161317C>T			OREG0016030	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	593	SPON2_uc003gco.3_Silent_p.G313G|SPON2_uc010ibr.2_Silent_p.G313G|SPON2_uc003gcm.1_3'UTR	p.G313G	NM_012445	NP_036577	Q9BUD6	SPON2_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00805)	UCEC - Uterine corpus endometrioid carcinoma (64;0.139)|Colorectal(103;0.19)	5	966	-			313			TSP type-1.		D3DVN9|Q4W5N4|Q9ULW1	Silent	SNP	ENST00000290902.5	37	c.939G>A	CCDS3347.1																																																																																				0.687	SPON2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000202080.2			12	131	0	0	0	0.00245	0	12	131				
HGFAC	3083	broad.mit.edu	37	4	3447974	3447975	+	Missense_Mutation	DNP	GG	GG	AT			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	GG	GG	-	-	GG	GG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr4:3447974_3447975GG>AT	ENST00000382774.3	+	10	1423_1424	c.1308_1309GG>AT	c.(1306-1311)ctGGtc>ctATtc	p.V437F	HGFAC_ENST00000511533.1_Missense_Mutation_p.V444F	NM_001528.2	NP_001519.1	Q04756	HGFA_HUMAN	HGF activator	437	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				proteolysis (GO:0006508)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|rough endoplasmic reticulum (GO:0005791)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			central_nervous_system(3)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	22				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		CCGGGAGCCTGGTCCACACCTG	0.698																																							uc003ghc.2		NA																	0				central_nervous_system(2)	2						c.(1306-1311)CTGGTC>CTATTC		HGF activator preproprotein																																				SO:0001583	missense	3083				proteolysis	extracellular space	protein binding|serine-type endopeptidase activity	g.chr4:3447974_3447975GG>AT	D14012	CCDS3369.1, CCDS75098.1	4p16	2008-02-07			ENSG00000109758	ENSG00000109758	3.4.21.-		4894	protein-coding gene	gene with protein product		604552				7683665, 8226803	Standard	XM_005247966		Approved	HGFAP, HGFA	uc003ghc.3	Q04756	OTTHUMG00000090281	Exception_encountered	4.37:g.3447974_3447975delinsAT	ENSP00000372224:p.Val437Phe					HGFAC_uc010icw.2_Missense_Mutation_p.V444F	p.V437F	NM_001528	NP_001519	Q04756	HGFA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.163)	10	1311_1312	+			437			Peptidase S1.		Q14726|Q2M1W7|Q53X47	Missense_Mutation	DNP	ENST00000382774.3	37	c.1308_1309GG>AT	CCDS3369.1																																																																																				0.698	HGFAC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206607.3			4	14	0	0	0	0.004672	0	4	14				
MAN2B2	23324	broad.mit.edu	37	4	6610904	6610904	+	Missense_Mutation	SNP	G	G	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr4:6610904G>A	ENST00000285599.3	+	12	1921	c.1885G>A	c.(1885-1887)Ggc>Agc	p.G629S	MAN2B2_ENST00000504248.1_Missense_Mutation_p.G578S|MAN2B2_ENST00000504960.1_3'UTR	NM_015274.1	NP_056089.1	Q9Y2E5	MA2B2_HUMAN	mannosidase, alpha, class 2B, member 2	629					mannose metabolic process (GO:0006013)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	alpha-mannosidase activity (GO:0004559)|carbohydrate binding (GO:0030246)|zinc ion binding (GO:0008270)			breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	30						TGTGAAACAGGGCCCCATTTC	0.567																																							uc003gjf.1		NA																	0				ovary(2)	2						c.(1885-1887)GGC>AGC		mannosidase, alpha, class 2B, member 2							109.0	97.0	101.0					4																	6610904		2203	4300	6503	SO:0001583	missense	23324				mannose metabolic process	extracellular region	alpha-mannosidase activity|carbohydrate binding|zinc ion binding	g.chr4:6610904G>A	BC033307	CCDS33951.1	4p16.2	2005-11-09			ENSG00000013288	ENSG00000013288			29623	protein-coding gene	gene with protein product	"""core-specific lysosomal alpha-1,6-Mannosidase"""					10231032, 16115860	Standard	XR_241647		Approved	KIAA0935	uc003gjf.1	Q9Y2E5	OTTHUMG00000160073	ENST00000285599.3:c.1885G>A	4.37:g.6610904G>A	ENSP00000285599:p.Gly629Ser					MAN2B2_uc003gje.1_Missense_Mutation_p.G629S|MAN2B2_uc011bwf.1_Missense_Mutation_p.G578S	p.G629S	NM_015274	NP_056089	Q9Y2E5	MA2B2_HUMAN			12	1921	+			629					Q66MP2|Q86T67	Missense_Mutation	SNP	ENST00000285599.3	37	c.1885G>A	CCDS33951.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.623257	0.87460	.	.	ENSG00000013288	ENST00000285599;ENST00000504248	D;D	0.83591	-1.74;-1.74	4.36	1.03	0.20045	Glycosyl hydrolases 38, C-terminal (1);Glycoside hydrolase-type carbohydrate-binding (1);	0.479744	0.22777	N	0.055774	D	0.84401	0.5464	L	0.56769	1.78	0.21740	N	0.99957	D;D;P	0.62365	0.991;0.991;0.694	D;D;P	0.69479	0.964;0.964;0.452	T	0.73206	-0.4056	10	0.14656	T	0.56	-4.6768	6.6223	0.22810	0.1599:0.2268:0.6133:0.0	.	578;629;629	E9PCD7;Q9Y2E5;Q9Y2E5-2	.;MA2B2_HUMAN;.	S	629;578	ENSP00000285599:G629S;ENSP00000423129:G578S	ENSP00000285599:G629S	G	+	1	0	MAN2B2	6661805	1.000000	0.71417	0.000000	0.03702	0.945000	0.59286	3.596000	0.54024	-0.178000	0.10672	0.313000	0.20887	GGC		0.567	MAN2B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359106.2	NM_015274		12	58	0	0	0	0.001855	0	12	58				
TBC1D14	57533	broad.mit.edu	37	4	7002883	7002883	+	Missense_Mutation	SNP	G	G	C			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr4:7002883G>C	ENST00000409757.4	+	7	1299	c.1175G>C	c.(1174-1176)aGa>aCa	p.R392T	TBC1D14_ENST00000446947.2_Missense_Mutation_p.R5T|AC097382.5_ENST00000441093.1_RNA|TBC1D14_ENST00000448507.1_Missense_Mutation_p.R392T|TBC1D14_ENST00000410031.1_Missense_Mutation_p.R164T|TBC1D14_ENST00000451522.2_Missense_Mutation_p.R112T	NM_020773.2	NP_065824.2	Q9P2M4	TBC14_HUMAN	TBC1 domain family, member 14	392					negative regulation of autophagy (GO:0010507)|recycling endosome to Golgi transport (GO:0071955)|regulation of autophagic vacuole assembly (GO:2000785)	autophagic vacuole (GO:0005776)|Golgi apparatus (GO:0005794)|recycling endosome (GO:0055037)	protein kinase binding (GO:0019901)|Rab GTPase activator activity (GO:0005097)			breast(1)|endometrium(5)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	22						TGGTGCTCTAGAAAAGTTCGA	0.493																																							uc011bwg.1		NA																	0				ovary(1)|pancreas(1)	2						c.(1174-1176)AGA>ACA		TBC1 domain family, member 14 isoform a							105.0	95.0	98.0					4																	7002883		2203	4300	6503	SO:0001583	missense	57533					intracellular	Rab GTPase activator activity	g.chr4:7002883G>C	AL833868	CCDS3394.2, CCDS47006.1, CCDS75104.1	4p16.1	2008-01-22			ENSG00000132405	ENSG00000132405			29246	protein-coding gene	gene with protein product		614855				10718198	Standard	NM_020773		Approved	KIAA1322	uc003gjs.4	Q9P2M4	OTTHUMG00000090493	ENST00000409757.4:c.1175G>C	4.37:g.7002883G>C	ENSP00000386921:p.Arg392Thr					TBC1D14_uc003gjs.3_Missense_Mutation_p.R392T|TBC1D14_uc010idh.2_Missense_Mutation_p.R112T|TBC1D14_uc011bwh.1_Missense_Mutation_p.R5T|TBC1D14_uc003gju.3_5'UTR	p.R392T	NM_001113361	NP_001106832	Q9P2M4	TBC14_HUMAN			7	1254	+			392					B9A6L5|D3DVT4|E9PAZ6|Q8IW15|Q8NDK3	Missense_Mutation	SNP	ENST00000409757.4	37	c.1175G>C	CCDS3394.2	.	.	.	.	.	.	.	.	.	.	G	14.95	2.687300	0.48097	.	.	ENSG00000132405	ENST00000448507;ENST00000409757;ENST00000410031;ENST00000451522;ENST00000439515;ENST00000446947	T;T;T;T;T;T	0.57907	0.37;0.37;0.37;0.37;3.59;3.59	5.97	5.12	0.69794	Rab-GAP/TBC domain (1);	0.107611	0.64402	D	0.000007	T	0.59307	0.2184	M	0.75777	2.31	0.42052	D	0.991123	P;B;B	0.37824	0.609;0.016;0.002	B;B;B	0.43623	0.425;0.022;0.006	T	0.61417	-0.7067	10	0.41790	T	0.15	-17.2965	13.3985	0.60868	0.076:0.0:0.9239:0.0	.	5;112;392	F5GXK4;Q9P2M4-2;Q9P2M4	.;.;TBC14_HUMAN	T	392;392;164;112;11;5	ENSP00000404041:R392T;ENSP00000386921:R392T;ENSP00000386343:R164T;ENSP00000388886:R112T;ENSP00000389082:R11T;ENSP00000405875:R5T	ENSP00000386921:R392T	R	+	2	0	TBC1D14	7053784	0.985000	0.35326	0.983000	0.44433	0.995000	0.86356	6.194000	0.72082	1.508000	0.48769	0.655000	0.94253	AGA		0.493	TBC1D14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206981.3	NM_020773		5	63	0	0	0	0.001168	0	5	63				
ACOX3	8310	broad.mit.edu	37	4	8417721	8417721	+	Silent	SNP	G	G	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr4:8417721G>A	ENST00000356406.5	-	3	227	c.150C>T	c.(148-150)acC>acT	p.T50T	ACOX3_ENST00000413009.2_Silent_p.T50T|ACOX3_ENST00000503233.1_Silent_p.T50T	NM_003501.2	NP_003492.2	O15254	ACOX3_HUMAN	acyl-CoA oxidase 3, pristanoyl	50					cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|small molecule metabolic process (GO:0044281)	membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)|pristanoyl-CoA oxidase activity (GO:0016402)|receptor binding (GO:0005102)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(17)|prostate(1)|skin(3)|stomach(1)	42						CTGAGAAGATGGTTTTCTGGA	0.493																																							uc010idk.2		NA																	0				central_nervous_system(1)	1						c.(148-150)ACC>ACT		acyl-Coenzyme A oxidase 3 isoform a							45.0	44.0	44.0					4																	8417721		2203	4300	6503	SO:0001819	synonymous_variant	8310				bile acid metabolic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|pristanoyl-CoA oxidase activity	g.chr4:8417721G>A	Y11411	CCDS3401.1, CCDS47017.1	4p15.3	2010-04-30	2010-04-30		ENSG00000087008	ENSG00000087008	1.3.3.6		121	protein-coding gene	gene with protein product		603402	"""acyl-Coenzyme A oxidase 3, pristanoyl"""			9271077	Standard	NM_003501		Approved		uc003glc.4	O15254	OTTHUMG00000090509	ENST00000356406.5:c.150C>T	4.37:g.8417721G>A						ACOX3_uc003glc.3_Silent_p.T50T|ACOX3_uc003gld.3_Silent_p.T50T|ACOX3_uc003gle.1_5'UTR	p.T50T	NM_003501	NP_003492	O15254	ACOX3_HUMAN			3	295	-			50					Q96AJ8	Silent	SNP	ENST00000356406.5	37	c.150C>T	CCDS3401.1																																																																																				0.493	ACOX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206997.4			22	31	0	0	0	0.003954	0	22	31				
CCKAR	886	broad.mit.edu	37	4	26490882	26490882	+	Missense_Mutation	SNP	C	C	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr4:26490882C>T	ENST00000295589.3	-	2	531	c.337G>A	c.(337-339)Gtt>Att	p.V113I		NM_000730.2	NP_000721.1	P32238	CCKAR_HUMAN	cholecystokinin A receptor	113					axonogenesis (GO:0007409)|cholecystokinin signaling pathway (GO:0038188)|digestion (GO:0007586)|feeding behavior (GO:0007631)|forebrain development (GO:0030900)|neuron migration (GO:0001764)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|response to nutrient (GO:0007584)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cholecystokinin receptor activity (GO:0004951)			NS(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|pancreas(1)|skin(1)	29		Breast(46;0.0503)			Ceruletide(DB00403)	GTCTTGCAAACGGCGCTCCCG	0.562																																							uc003gse.1		NA																	0				lung(3)|pancreas(1)	4						c.(337-339)GTT>ATT		cholecystokinin A receptor	Ceruletide(DB00403)						159.0	146.0	151.0					4																	26490882		2203	4300	6503	SO:0001583	missense	886				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration|response to nutrient	integral to plasma membrane	cholecystokinin receptor activity	g.chr4:26490882C>T	L19315	CCDS3438.1	4p15.2	2013-09-20			ENSG00000163394	ENSG00000163394		"""GPCR / Class A : Cholecystokinin receptors"""	1570	protein-coding gene	gene with protein product		118444					Standard	NM_000730		Approved		uc003gse.1	P32238	OTTHUMG00000128567	ENST00000295589.3:c.337G>A	4.37:g.26490882C>T	ENSP00000295589:p.Val113Ile						p.V113I	NM_000730	NP_000721	P32238	CCKAR_HUMAN			2	490	-		Breast(46;0.0503)	113			Extracellular (Potential).		B2R9Z5	Missense_Mutation	SNP	ENST00000295589.3	37	c.337G>A	CCDS3438.1	.	.	.	.	.	.	.	.	.	.	C	2.501	-0.315097	0.05422	.	.	ENSG00000163394	ENST00000295589	T	0.37411	1.2	5.24	2.56	0.30785	GPCR, rhodopsin-like superfamily (1);	0.173050	0.49916	D	0.000131	T	0.19525	0.0469	N	0.16656	0.425	0.19775	N	0.999955	B	0.14805	0.011	B	0.22753	0.041	T	0.16660	-1.0395	10	0.32370	T	0.25	.	5.3193	0.15872	0.2592:0.5455:0.1253:0.07	.	113	P32238	CCKAR_HUMAN	I	113	ENSP00000295589:V113I	ENSP00000295589:V113I	V	-	1	0	CCKAR	26099980	0.258000	0.24033	0.002000	0.10522	0.118000	0.20060	0.797000	0.26999	0.215000	0.20761	0.561000	0.74099	GTT		0.562	CCKAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250418.2			41	111	0	0	0	0.007835	0	41	111				
TBC1D1	23216	broad.mit.edu	37	4	38016288	38016288	+	Silent	SNP	G	G	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr4:38016288G>T	ENST00000261439.4	+	3	931	c.576G>T	c.(574-576)ctG>ctT	p.L192L	TBC1D1_ENST00000508802.1_Silent_p.L192L	NM_001253914.1|NM_001253915.1|NM_015173.3	NP_001240843.1|NP_001240844.1|NP_055988.2	Q86TI0	TBCD1_HUMAN	TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1	192					membrane organization (GO:0061024)|regulation of protein localization (GO:0032880)	cytosol (GO:0005829)|nucleus (GO:0005634)	Rab GTPase activator activity (GO:0005097)			NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	36						CGCCGGCCCTGATCGACGAGT	0.672																																							uc003gtb.2		NA																	0				ovary(1)	1						c.(574-576)CTG>CTT		TBC1 (tre-2/USP6, BUB2, cdc16) domain family,							71.0	77.0	75.0					4																	38016288		2203	4300	6503	SO:0001819	synonymous_variant	23216					nucleus	Rab GTPase activator activity	g.chr4:38016288G>T	AB029031	CCDS33972.1, CCDS58897.1	4p14	2013-07-09			ENSG00000065882	ENSG00000065882			11578	protein-coding gene	gene with protein product		609850				10965142, 18258599	Standard	NM_015173		Approved	TBC, TBC1, KIAA1108	uc003gtb.3	Q86TI0	OTTHUMG00000150302	ENST00000261439.4:c.576G>T	4.37:g.38016288G>T						TBC1D1_uc011byd.1_Silent_p.L192L|TBC1D1_uc010ifd.2_Intron|TBC1D1_uc011byf.1_Silent_p.L63L	p.L192L	NM_015173	NP_055988	Q86TI0	TBCD1_HUMAN			3	919	+			192					B7Z3D9|E9PGH8|Q96K82|Q9UPP4	Silent	SNP	ENST00000261439.4	37	c.576G>T	CCDS33972.1																																																																																				0.672	TBC1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317443.2	NM_015173		57	97	1	0	2.50483e-33	0.00361	3.88826e-33	57	97				
GABRG1	2565	broad.mit.edu	37	4	46060534	46060534	+	Missense_Mutation	SNP	C	C	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr4:46060534C>T	ENST00000295452.4	-	6	898	c.731G>A	c.(730-732)cGg>cAg	p.R244Q		NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 1	244					gamma-aminobutyric acid signaling pathway (GO:0007214)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	AGTTGAGTTCCGTAACCCTAC	0.333																																							uc003gxb.2		NA																	0				ovary(2)	2						c.(730-732)CGG>CAG		gamma-aminobutyric acid A receptor, gamma 1							89.0	86.0	87.0					4																	46060534		2203	4300	6503	SO:0001583	missense	2565				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity	g.chr4:46060534C>T	BC031087	CCDS3470.1	4p12	2012-06-22			ENSG00000163285	ENSG00000163285		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4086	protein-coding gene	gene with protein product	"""GABA(A) receptor, gamma"""	137166				1321425	Standard	NM_173536		Approved		uc003gxb.3	Q8N1C3	OTTHUMG00000128609	ENST00000295452.4:c.731G>A	4.37:g.46060534C>T	ENSP00000295452:p.Arg244Gln						p.R244Q	NM_173536	NP_775807	Q8N1C3	GBRG1_HUMAN		Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)	6	883	-			244			Extracellular (Probable).		Q5H9T8	Missense_Mutation	SNP	ENST00000295452.4	37	c.731G>A	CCDS3470.1	.	.	.	.	.	.	.	.	.	.	C	17.94	3.510588	0.64522	.	.	ENSG00000163285	ENST00000295452;ENST00000540030	T	0.78816	-1.21	5.83	5.83	0.93111	Neurotransmitter-gated ion-channel ligand-binding (3);	0.117337	0.56097	D	0.000035	D	0.85035	0.5605	L	0.49571	1.57	0.42153	D	0.99156	D	0.67145	0.996	D	0.64776	0.929	D	0.85075	0.0942	10	0.56958	D	0.05	.	19.1642	0.93548	0.0:1.0:0.0:0.0	.	244	Q8N1C3	GBRG1_HUMAN	Q	244	ENSP00000295452:R244Q	ENSP00000295452:R244Q	R	-	2	0	GABRG1	45755291	0.995000	0.38212	0.494000	0.27515	0.343000	0.28985	3.982000	0.56909	2.775000	0.95449	0.650000	0.86243	CGG		0.333	GABRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250470.1	NM_173536		32	90	0	0	0	0.007835	0	32	90				
CORIN	10699	broad.mit.edu	37	4	47628443	47628443	+	Missense_Mutation	SNP	A	A	G			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr4:47628443A>G	ENST00000273857.4	-	17	2293	c.2294T>C	c.(2293-2295)tTa>tCa	p.L765S	CORIN_ENST00000515827.1_5'UTR|CORIN_ENST00000505909.1_Missense_Mutation_p.L728S|CORIN_ENST00000502252.1_Missense_Mutation_p.L698S|CORIN_ENST00000508498.1_Missense_Mutation_p.L626S	NM_006587.2	NP_006578.2	Q9Y5Q5	CORIN_HUMAN	corin, serine peptidase	765	SRCR.				female pregnancy (GO:0007565)|peptide hormone processing (GO:0016486)|proteolysis (GO:0006508)|regulation of blood pressure (GO:0008217)|regulation of renal sodium excretion (GO:0035813)|regulation of systemic arterial blood pressure by atrial natriuretic peptide (GO:0003050)	cell surface (GO:0009986)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)|serine-type exopeptidase activity (GO:0070008)			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						AAGTTCATGTAAAGTGGTCCC	0.428																																							uc003gxm.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(2293-2295)TTA>TCA		corin							196.0	187.0	190.0					4																	47628443		2203	4300	6503	SO:0001583	missense	10699				peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity	g.chr4:47628443A>G	AF133845	CCDS3477.1, CCDS63958.1, CCDS75122.1	4p13-p12	2011-08-31	2005-08-17		ENSG00000145244	ENSG00000145244		"""Serine peptidases / Transmembrane"""	19012	protein-coding gene	gene with protein product		605236	"""corin, serine protease"""			10329693	Standard	NM_006587		Approved	PRSC, CRN, ATC2, Lrp4, TMPRSS10	uc003gxm.3	Q9Y5Q5	OTTHUMG00000099441	ENST00000273857.4:c.2294T>C	4.37:g.47628443A>G	ENSP00000273857:p.Leu765Ser					CORIN_uc011bzf.1_Missense_Mutation_p.L626S|CORIN_uc011bzg.1_Missense_Mutation_p.L698S	p.L765S	NM_006587	NP_006578	Q9Y5Q5	CORIN_HUMAN			17	2387	-			765			Extracellular (Potential).|SRCR.		B0ZBE3|Q2TBD2|Q4W5E5|Q4W5G6|Q9UHY2	Missense_Mutation	SNP	ENST00000273857.4	37	c.2294T>C	CCDS3477.1	.	.	.	.	.	.	.	.	.	.	A	14.58	2.577627	0.45902	.	.	ENSG00000145244	ENST00000273857;ENST00000508498;ENST00000502252;ENST00000505909	T;T;T;T	0.68479	-0.33;-0.33;-0.33;0.41	5.28	5.28	0.74379	Speract/scavenger receptor-related (2);	0.177342	0.35320	N	0.003283	T	0.77350	0.4117	M	0.83012	2.62	0.80722	D	1	D;D	0.57899	0.981;0.981	P;P	0.52758	0.708;0.69	T	0.81163	-0.1058	10	0.59425	D	0.04	.	13.9401	0.64050	1.0:0.0:0.0:0.0	.	698;765	B4E1Y7;Q9Y5Q5	.;CORIN_HUMAN	S	765;626;698;728	ENSP00000273857:L765S;ENSP00000425597:L626S;ENSP00000424212:L698S;ENSP00000425401:L728S	ENSP00000273857:L765S	L	-	2	0	CORIN	47323200	0.835000	0.29415	0.771000	0.31576	0.010000	0.07245	5.337000	0.65941	2.221000	0.72209	0.454000	0.30748	TTA		0.428	CORIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216906.2			20	356	0	0	0	0.010504	0	20	356				
NIPAL1	152519	broad.mit.edu	37	4	48038107	48038107	+	Missense_Mutation	SNP	A	A	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr4:48038107A>T	ENST00000295461.5	+	6	1217	c.1151A>T	c.(1150-1152)aAt>aTt	p.N384I		NM_207330.1	NP_997213.1	Q6NVV3	NIPA3_HUMAN	NIPA-like domain containing 1	384						integral component of membrane (GO:0016021)	magnesium ion transmembrane transporter activity (GO:0015095)			endometrium(2)|large_intestine(1)|lung(3)|skin(2)	8						AATGAAAACAATTATGTTTTA	0.378																																							uc003gxw.2		NA																	0					0						c.(1150-1152)AAT>ATT		NIPA-like domain containing 1							88.0	84.0	86.0					4																	48038107		2203	4300	6503	SO:0001583	missense	152519					integral to membrane		g.chr4:48038107A>T	BC067881	CCDS3479.1	4p12	2009-03-24		2009-03-24	ENSG00000163293	ENSG00000163293			27194	protein-coding gene	gene with protein product				NPAL1			Standard	NM_207330		Approved	DKFZp686A06115	uc003gxw.3	Q6NVV3	OTTHUMG00000128622	ENST00000295461.5:c.1151A>T	4.37:g.48038107A>T	ENSP00000295461:p.Asn384Ile						p.N384I	NM_207330	NP_997213	Q6NVV3	NIPA3_HUMAN			6	1217	+			384			Cytoplasmic (Potential).		B3KTB0|Q68DA9	Missense_Mutation	SNP	ENST00000295461.5	37	c.1151A>T	CCDS3479.1	.	.	.	.	.	.	.	.	.	.	A	7.048	0.563890	0.13498	.	.	ENSG00000163293	ENST00000295461	D	0.90444	-2.67	5.96	-0.349	0.12609	.	0.703235	0.14306	N	0.327961	T	0.76456	0.3990	N	0.08118	0	0.09310	N	1	B	0.16166	0.016	B	0.19148	0.024	T	0.61821	-0.6984	9	.	.	.	.	8.1106	0.30911	0.4481:0.1165:0.4354:0.0	.	384	Q6NVV3	NIPA3_HUMAN	I	384	ENSP00000295461:N384I	.	N	+	2	0	NIPAL1	47732864	0.926000	0.31397	0.095000	0.20976	0.157000	0.22087	0.814000	0.27239	-0.028000	0.13850	-0.250000	0.11733	AAT		0.378	NIPAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250491.4	NM_207330		32	105	0	0	0	0.004878	0	32	105				
RASL11B	65997	broad.mit.edu	37	4	53730701	53730701	+	Missense_Mutation	SNP	C	C	G			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr4:53730701C>G	ENST00000248706.3	+	3	474	c.256C>G	c.(256-258)Caa>Gaa	p.Q86E	RASL11B_ENST00000505041.1_3'UTR	NM_023940.2	NP_076429.1			RAS-like, family 11, member B											autonomic_ganglia(1)|central_nervous_system(1)|lung(5)|ovary(1)|stomach(1)	9			LUSC - Lung squamous cell carcinoma(32;0.0302)			TCTTCAGGTTCAAGACACTCC	0.428																																							uc003gzt.2		NA																	0				central_nervous_system(1)	1						c.(256-258)CAA>GAA		RAS-like family 11 member B							155.0	169.0	164.0					4																	53730701		2203	4300	6503	SO:0001583	missense	65997				small GTPase mediated signal transduction	membrane	GTP binding|GTPase activity	g.chr4:53730701C>G	BK001672	CCDS3490.1	4q12	2014-05-09			ENSG00000128045	ENSG00000128045			23804	protein-coding gene	gene with protein product		612404					Standard	NM_023940		Approved		uc003gzt.3	Q9BPW5	OTTHUMG00000102097	ENST00000248706.3:c.256C>G	4.37:g.53730701C>G	ENSP00000248706:p.Gln86Glu						p.Q86E	NM_023940	NP_076429	Q9BPW5	RSLBB_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.0302)		3	436	+			86			Small GTPase-like.			Missense_Mutation	SNP	ENST00000248706.3	37	c.256C>G	CCDS3490.1	.	.	.	.	.	.	.	.	.	.	C	15.34	2.803653	0.50315	.	.	ENSG00000128045	ENST00000248706	T	0.79554	-1.28	5.82	5.82	0.92795	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.87775	0.6262	L	0.52759	1.655	0.80722	D	1	D	0.57257	0.979	D	0.74023	0.982	D	0.88036	0.2778	10	0.87932	D	0	.	19.0872	0.93209	0.0:1.0:0.0:0.0	.	86	Q9BPW5	RSLBB_HUMAN	E	86	ENSP00000248706:Q86E	ENSP00000248706:Q86E	Q	+	1	0	RASL11B	53425458	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	7.294000	0.78760	2.752000	0.94435	0.655000	0.94253	CAA		0.428	RASL11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219931.2	NM_023940		32	170	0	0	0	0.004289	0	32	170				
PDGFRA	5156	broad.mit.edu	37	4	55133802	55133802	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr4:55133802G>T	ENST00000257290.5	+	7	1346	c.1015G>T	c.(1015-1017)Gtg>Ttg	p.V339L	FIP1L1_ENST00000507166.1_Intron	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	339	Ig-like C2-type 4.				adrenal gland development (GO:0030325)|cardiac myofibril assembly (GO:0055003)|cell activation (GO:0001775)|cell chemotaxis (GO:0060326)|cellular response to amino acid stimulus (GO:0071230)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic skeletal system morphogenesis (GO:0048704)|epidermal growth factor receptor signaling pathway (GO:0007173)|estrogen metabolic process (GO:0008210)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hematopoietic progenitor cell differentiation (GO:0002244)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|Leydig cell differentiation (GO:0033327)|lung development (GO:0030324)|luteinization (GO:0001553)|male genitalia development (GO:0030539)|metanephric glomerular capillary formation (GO:0072277)|negative regulation of platelet activation (GO:0010544)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet aggregation (GO:0070527)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|platelet-derived growth factor receptor-alpha signaling pathway (GO:0035790)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway (GO:0038091)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of DNA replication (GO:0045740)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|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)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of chemotaxis (GO:0050920)|regulation of mesenchymal stem cell differentiation (GO:2000739)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction involved in regulation of gene expression (GO:0023019)|viral process (GO:0016032)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|membrane (GO:0016020)|microvillus (GO:0005902)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|platelet-derived growth factor alpha-receptor activity (GO:0005018)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sunitinib(DB01268)	TGTTGTAGAGGTGCGGGCCTA	0.448			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)																											Pancreas(151;208 1913 7310 23853 37092)	Pancreas(151;208 1913 7310 23853 37092)	uc003han.3		NA		Dom	yes		4	4q11-q13	5156	Mis|O|T	"""platelet-derived growth factor, alpha-receptor"""			"""L, M, O"""	FIP1L1		GIST|idiopathic hypereosinophilic syndrome		0				soft_tissue(572)|small_intestine(40)|stomach(16)|lung(16)|central_nervous_system(13)|haematopoietic_and_lymphoid_tissue(7)|skin(3)|ovary(3)|gastrointestinal_tract_(site_indeterminate)(1)|autonomic_ganglia(1)|prostate(1)|bone(1)	674						c.(1015-1017)GTG>TTG		platelet-derived growth factor receptor alpha	Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)						71.0	69.0	69.0					4																	55133802		2203	4300	6503	SO:0001583	missense	5156	Gastrointestinal_Stromal_Tumors_Sporadic_Multiple_Primary|Familial_Intestinal_Neurofibromatosis	Familial Cancer Database	Sporadic Multiple GIST;Familial Intestinal Stromal Tumors, NF3B, subset of Familial GIST,	cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity	g.chr4:55133802G>T	D50001	CCDS3495.1	4q12	2014-09-17			ENSG00000134853	ENSG00000134853		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	8803	protein-coding gene	gene with protein product		173490					Standard	NM_006206		Approved	CD140a, PDGFR2	uc003han.4	P16234	OTTHUMG00000128699	ENST00000257290.5:c.1015G>T	4.37:g.55133802G>T	ENSP00000257290:p.Val339Leu	TSP Lung(21;0.16)				PDGFRA_uc003haa.2_Intron|PDGFRA_uc010igq.1_Missense_Mutation_p.V233L|PDGFRA_uc003ham.2_RNA	p.V339L	NM_006206	NP_006197	P16234	PGFRA_HUMAN	GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		7	1346	+	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		339			Ig-like C2-type 4.|Extracellular (Potential).		B2RE69|E9PBH0|Q6P4H5|Q96KZ7|Q9UD28	Missense_Mutation	SNP	ENST00000257290.5	37	c.1015G>T	CCDS3495.1	.	.	.	.	.	.	.	.	.	.	G	9.547	1.114893	0.20795	.	.	ENSG00000134853	ENST00000257290	T	0.74421	-0.84	5.79	1.77	0.24775	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like fold (1);	0.000000	0.29522	U	0.011906	T	0.52980	0.1768	L	0.31207	0.915	0.80722	D	1	B;B	0.09022	0.002;0.002	B;B	0.15052	0.012;0.006	T	0.25710	-1.0124	10	0.19147	T	0.46	.	1.7783	0.03026	0.2408:0.1368:0.4818:0.1406	.	339;339	P16234-3;P16234	.;PGFRA_HUMAN	L	339	ENSP00000257290:V339L	ENSP00000257290:V339L	V	+	1	0	PDGFRA	54828559	0.946000	0.32159	0.470000	0.27216	0.513000	0.34164	1.629000	0.37071	0.317000	0.23160	0.462000	0.41574	GTG		0.448	PDGFRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250598.2	NM_006206		29	60	1	0	2.70662e-09	0.009535	3.28638e-09	29	60				
EPHA5	2044	broad.mit.edu	37	4	66218759	66218759	+	Splice_Site	SNP	C	C	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr4:66218759C>T	ENST00000273854.3	-	13	2899		c.e13+1		EPHA5_ENST00000511294.1_Splice_Site|EPHA5_ENST00000432638.2_Splice_Site|EPHA5_ENST00000354839.4_Splice_Site	NM_001281765.1|NM_004439.5	NP_001268694.1|NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5						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						CCCAATCCTACCTTCAAAAAT	0.368										TSP Lung(17;0.13)																													uc003hcy.2		NA																	0				lung(19)|stomach(2)|ovary(2)|central_nervous_system(1)	24						c.e13+1		ephrin receptor EphA5 isoform a precursor							108.0	98.0	101.0					4																	66218759		2203	4300	6503	SO:0001630	splice_region_variant	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.chr4:66218759C>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.2298+1G>A	4.37:g.66218759C>T		TSP Lung(17;0.13)				EPHA5_uc003hcx.2_Splice_Site_p.K698_splice|EPHA5_uc003hcz.2_Splice_Site_p.K744_splice|EPHA5_uc011cah.1_Splice_Site_p.K767_splice|EPHA5_uc011cai.1_Splice_Site_p.K745_splice|EPHA5_uc003hda.2_Splice_Site_p.K767_splice	p.K766_splice	NM_004439	NP_004430	P54756	EPHA5_HUMAN			13	2491	-								Q7Z3F2	Splice_Site	SNP	ENST00000273854.3	37	c.2298_splice	CCDS3513.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.087398	0.76642	.	.	ENSG00000145242	ENST00000273854;ENST00000432638;ENST00000354839;ENST00000511294	.	.	.	5.73	5.73	0.89815	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.907	0.97012	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	EPHA5	65901354	1.000000	0.71417	1.000000	0.80357	0.599000	0.36880	7.814000	0.86154	2.718000	0.92993	0.585000	0.79938	.		0.368	EPHA5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251388.2	NM_004439	Intron	50	22	0	0	0	0.00361	0	50	22				
TMPRSS11E	28983	broad.mit.edu	37	4	69337249	69337249	+	Missense_Mutation	SNP	C	C	A	rs372601609		TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr4:69337249C>A	ENST00000305363.4	+	5	462	c.398C>A	c.(397-399)aCt>aAt	p.T133N		NM_014058.3	NP_054777.2	Q9UL52	TM11E_HUMAN	transmembrane protease, serine 11E	133	SEA. {ECO:0000255|PROSITE- ProRule:PRU00188}.				cognition (GO:0050890)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			endometrium(1)|lung(19)|pancreas(1)|skin(3)	24						GATCCTGAAACTGTAGATAAA	0.368																																							uc003hdz.3		NA																	0					NA						c.(397-399)ACT>AAT		transmembrane protease, serine 11E							184.0	194.0	191.0					4																	69337249		2203	4300	6503	SO:0001583	missense	0							g.chr4:69337249C>A	AF064819	CCDS33993.1	4q13.2	2010-04-13			ENSG00000087128	ENSG00000087128		"""Serine peptidases / Transmembrane"""	24465	protein-coding gene	gene with protein product		610399	"""transmembrane protease, serine 11E2"""	TMPRSS11E2		15328353	Standard	NM_014058		Approved	DESC1	uc003hdz.4	Q9UL52	OTTHUMG00000160438	ENST00000305363.4:c.398C>A	4.37:g.69337249C>A	ENSP00000307519:p.Thr133Asn						p.T133N	NM_014058	NP_054777					5	462	+								A6NL71|Q14DC8|Q6UW31	Missense_Mutation	SNP	ENST00000305363.4	37	c.398C>A	CCDS33993.1	.	.	.	.	.	.	.	.	.	.	c	0.334	-0.954695	0.02285	.	.	ENSG00000087128	ENST00000305363	T	0.39406	1.08	5.95	0.926	0.19430	SEA (1);	1.454670	0.04282	N	0.344056	T	0.24928	0.0605	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.10450	0.005	T	0.16247	-1.0409	10	0.15499	T	0.54	.	5.572	0.17202	0.4355:0.4174:0.0:0.1471	.	133	Q9UL52	TM11E_HUMAN	N	133	ENSP00000307519:T133N	ENSP00000307519:T133N	T	+	2	0	TMPRSS11E	69019844	0.000000	0.05858	0.005000	0.12908	0.197000	0.23852	0.099000	0.15210	-0.152000	0.11156	0.580000	0.79431	ACT		0.368	TMPRSS11E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360584.1	NM_014058		68	197	1	0	9.12251e-31	0.00361	1.39888e-30	68	197				
SULT1E1	6783	broad.mit.edu	37	4	70720024	70720024	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr4:70720024G>T	ENST00000226444.3	-	4	392	c.280C>A	c.(280-282)Caa>Aaa	p.Q94K		NM_005420.2	NP_005411.1	P49888	ST1E1_HUMAN	sulfotransferase family 1E, estrogen-preferring, member 1	94					3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|estrogen metabolic process (GO:0008210)|female pregnancy (GO:0007565)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sulfation (GO:0051923)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	estrone sulfotransferase activity (GO:0004304)|flavonol 3-sulfotransferase activity (GO:0047894)|steroid binding (GO:0005496)|steroid sulfotransferase activity (GO:0050294)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	10					Acetaminophen(DB00316)|Cyclizine(DB01176)	TCATCTAATTGTTTTACTCCT	0.303																																							uc003heo.2		NA																	0				ovary(1)	1						c.(280-282)CAA>AAA		estrogen sulfotransferase							65.0	64.0	64.0					4																	70720024		2203	4300	6503	SO:0001583	missense	6783				3'-phosphoadenosine 5'-phosphosulfate metabolic process|sulfation|xenobiotic metabolic process	cytosol|nuclear membrane	estrone sulfotransferase activity|flavonol 3-sulfotransferase activity|steroid binding|steroid sulfotransferase activity	g.chr4:70720024G>T	BC027956	CCDS3531.1	4q13.1	2008-02-05	2004-02-06	2004-02-04	ENSG00000109193	ENSG00000109193	2.8.2.4	"""Sulfotransferases, cytosolic"""	11377	protein-coding gene	gene with protein product		600043	"""sulfotransferase, estrogen-preferring"""	STE		7961757	Standard	NM_005420		Approved	EST	uc003heo.3	P49888	OTTHUMG00000129403	ENST00000226444.3:c.280C>A	4.37:g.70720024G>T	ENSP00000226444:p.Gln94Lys					SULT1E1_uc010ihv.1_Missense_Mutation_p.Q94K	p.Q94K	NM_005420	NP_005411	P49888	ST1E1_HUMAN			4	393	-			94					Q8N6X5	Missense_Mutation	SNP	ENST00000226444.3	37	c.280C>A	CCDS3531.1	.	.	.	.	.	.	.	.	.	.	G	0.001	-2.990307	0.00045	.	.	ENSG00000109193	ENST00000226444	D	0.82081	-1.57	4.06	2.28	0.28536	Sulfotransferase domain (1);	0.082671	0.51477	N	0.000093	T	0.68668	0.3026	L	0.28776	0.89	0.09310	N	0.999999	B;B	0.27951	0.195;0.195	B;B	0.32724	0.151;0.151	T	0.51624	-0.8682	10	0.13470	T	0.59	.	5.0099	0.14308	0.1011:0.0:0.4931:0.4058	.	94;94	Q53X91;P49888	.;ST1E1_HUMAN	K	94	ENSP00000226444:Q94K	ENSP00000226444:Q94K	Q	-	1	0	SULT1E1	70754613	0.986000	0.35501	0.026000	0.17262	0.008000	0.06430	2.987000	0.49378	0.634000	0.30469	-1.047000	0.02352	CAA		0.303	SULT1E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251559.1	NM_005420		12	35	1	0	2.27111e-07	0.001368	2.61891e-07	12	35				
ODAM	54959	broad.mit.edu	37	4	71063851	71063851	+	Nonsense_Mutation	SNP	C	C	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr4:71063851C>T	ENST00000396094.2	+	4	400	c.352C>T	c.(352-354)Cag>Tag	p.Q118*		NM_017855.3	NP_060325.3	A1E959	ODAM_HUMAN	odontogenic, ameloblast asssociated	118	Gln-rich.				biomineral tissue development (GO:0031214)|odontogenesis of dentin-containing tooth (GO:0042475)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|fibril (GO:0043205)|nucleus (GO:0005634)				NS(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(8)|ovary(3)|skin(2)	20						AACACCGCCTCAGACACAACC	0.488																																							uc003hfc.2		NA																	0				ovary(3)|large_intestine(1)	4						c.(352-354)CAG>TAG		odontogenic ameloblast-associated protein							92.0	95.0	94.0					4																	71063851		1910	4127	6037	SO:0001587	stop_gained	54959				biomineral tissue development|odontogenesis of dentine-containing tooth	fibril		g.chr4:71063851C>T	AK000520	CCDS3536.2	4q13.3	2010-11-23			ENSG00000109205	ENSG00000109205			26043	protein-coding gene	gene with protein product		614843				14647039	Standard	NM_017855		Approved	APin, FLJ20513	uc003hfc.3	A1E959	OTTHUMG00000129406	ENST00000396094.2:c.352C>T	4.37:g.71063851C>T	ENSP00000379401:p.Gln118*						p.Q118*	NM_017855	NP_060325	A1E959	ODAM_HUMAN			4	369	+			118			Gln-rich.		Q8WWE5|Q9NWZ9	Nonsense_Mutation	SNP	ENST00000396094.2	37	c.352C>T	CCDS3536.2	.	.	.	.	.	.	.	.	.	.	C	14.77	2.635494	0.47049	.	.	ENSG00000109205	ENST00000396094;ENST00000510709;ENST00000514097	.	.	.	4.79	4.79	0.61399	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-4.4465	13.1908	0.59709	0.0:1.0:0.0:0.0	.	.	.	.	X	118;104;71	.	ENSP00000379401:Q118X	Q	+	1	0	ODAM	71098440	0.936000	0.31750	0.072000	0.20136	0.001000	0.01503	3.310000	0.51911	2.489000	0.83994	0.561000	0.74099	CAG		0.488	ODAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251562.1	NM_017855		18	126	0	0	0	0.007413	0	18	126				
ADAMTS3	9508	broad.mit.edu	37	4	73149349	73149349	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr4:73149349C>A	ENST00000286657.4	-	22	3158	c.3122G>T	c.(3121-3123)gGt>gTt	p.G1041V		NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	1041	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)			CTTGTTATAACCTGGTATGGA	0.418																																					NSCLC(168;1941 2048 2918 13048 43078)	NSCLC(168;1941 2048 2918 13048 43078)	uc003hgk.1		NA																	0				ovary(1)|lung(1)	2						c.(3121-3123)GGT>GTT		ADAM metallopeptidase with thrombospondin type 1							117.0	110.0	113.0					4																	73149349		2203	4300	6503	SO:0001583	missense	9508				collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding	g.chr4:73149349C>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.3122G>T	4.37:g.73149349C>A	ENSP00000286657:p.Gly1041Val						p.G1041V	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	3159	-			1041			PLAC.		A1L3U9|Q9BXZ8	Missense_Mutation	SNP	ENST00000286657.4	37	c.3122G>T	CCDS3553.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.933106	0.73442	.	.	ENSG00000156140	ENST00000286657	T	0.57436	0.4	5.35	5.35	0.76521	PLAC (1);	0.000000	0.85682	D	0.000000	T	0.71685	0.3369	M	0.68317	2.08	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.69577	-0.5108	10	0.37606	T	0.19	.	19.0682	0.93122	0.0:1.0:0.0:0.0	.	1041	O15072	ATS3_HUMAN	V	1041	ENSP00000286657:G1041V	ENSP00000286657:G1041V	G	-	2	0	ADAMTS3	73368213	1.000000	0.71417	1.000000	0.80357	0.806000	0.45545	6.087000	0.71362	2.506000	0.84524	0.591000	0.81541	GGT		0.418	ADAMTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252164.2			13	150	1	0	2.48551e-13	0.00499	3.24854e-13	13	150				
SHROOM3	57619	broad.mit.edu	37	4	77357309	77357309	+	Missense_Mutation	SNP	G	G	A	rs199533144		TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr4:77357309G>A	ENST00000296043.6	+	1	1057	c.104G>A	c.(103-105)gGa>gAa	p.G35E		NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	35	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				actin cytoskeleton organization (GO:0030036)|apical protein localization (GO:0045176)|cell morphogenesis (GO:0000902)|cellular pigment accumulation (GO:0043482)|columnar/cuboidal epithelial cell development (GO:0002066)|neural tube closure (GO:0001843)|pattern specification process (GO:0007389)|regulation of cell shape (GO:0008360)	adherens junction (GO:0005912)|apical junction complex (GO:0043296)|apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|microtubule (GO:0005874)				NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			CTGGAGGGAGGAGCTCCCTGG	0.458																																							uc011cbx.1		NA																	0				skin(2)|ovary(1)	3						c.(103-105)GGA>GAA		shroom family member 3 protein							210.0	210.0	210.0					4																	77357309		2203	4300	6503	SO:0001583	missense	57619				apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding	g.chr4:77357309G>A	AB055660	CCDS3579.2	4q21.1	2009-11-25			ENSG00000138771	ENSG00000138771			30422	protein-coding gene	gene with protein product		604570				10589677, 16615870	Standard	NM_020859		Approved	ShrmL, SHRM, KIAA1481, APXL3	uc011cbx.2	Q8TF72	OTTHUMG00000157075	ENST00000296043.6:c.104G>A	4.37:g.77357309G>A	ENSP00000296043:p.Gly35Glu						p.G35E	NM_020859	NP_065910	Q8TF72	SHRM3_HUMAN	Lung(101;0.0903)		1	1057	+			35			PDZ.		Q5QTQ3|Q6ZRW3|Q96IR9|Q9P247	Missense_Mutation	SNP	ENST00000296043.6	37	c.104G>A	CCDS3579.2	.	.	.	.	.	.	.	.	.	.	G	22.0	4.232536	0.79688	.	.	ENSG00000138771	ENST00000296043	T	0.27557	1.66	5.44	5.44	0.79542	PDZ/DHR/GLGF (3);	0.000000	0.48767	D	0.000161	T	0.55940	0.1952	M	0.69463	2.115	0.43494	D	0.995736	D	0.89917	1.0	D	0.97110	1.0	T	0.55598	-0.8116	10	0.87932	D	0	-16.6664	17.9189	0.88960	0.0:0.0:1.0:0.0	.	35	Q8TF72	SHRM3_HUMAN	E	35	ENSP00000296043:G35E	ENSP00000296043:G35E	G	+	2	0	SHROOM3	77576333	1.000000	0.71417	0.989000	0.46669	0.687000	0.40016	7.710000	0.84655	2.937000	0.99478	0.650000	0.86243	GGA		0.458	SHROOM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252408.2	NM_020859		34	263	0	0	0	0.00874	0	34	263				
MRPL1	65008	broad.mit.edu	37	4	78830457	78830457	+	Silent	SNP	A	A	G			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr4:78830457A>G	ENST00000315567.8	+	7	1037	c.708A>G	c.(706-708)ttA>ttG	p.L236L	MRPL1_ENST00000506674.1_3'UTR	NM_020236.3	NP_064621.3	Q9BYD6	RM01_HUMAN	mitochondrial ribosomal protein L1	236					translation (GO:0006412)	large ribosomal subunit (GO:0015934)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)	17						TGCTTGAATTATTTAAAAATG	0.303																																							uc003hku.2		NA																	0					0						c.(706-708)TTA>TTG		mitochondrial ribosomal protein L1 precursor							88.0	97.0	94.0					4																	78830457		2203	4296	6499	SO:0001819	synonymous_variant	65008						RNA binding	g.chr4:78830457A>G	AB049474	CCDS3583.2	4q21.1	2012-09-13			ENSG00000169288	ENSG00000169288		"""Mitochondrial ribosomal proteins / large subunits"""	14275	protein-coding gene	gene with protein product		611821					Standard	NM_020236		Approved	BM022	uc003hku.2	Q9BYD6	OTTHUMG00000130200	ENST00000315567.8:c.708A>G	4.37:g.78830457A>G						MRPL1_uc010iji.1_Silent_p.L159L	p.L236L	NM_020236	NP_064621	Q9BYD6	RM01_HUMAN			7	906	+			236					A6NG03|Q4W5B8|Q6IAG4|Q96BW3|Q9H793|Q9NRL5	Silent	SNP	ENST00000315567.8	37	c.708A>G	CCDS3583.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	0.091|0.091	-1.167805|-1.167805	0.01660|0.01660	.|.	.|.	ENSG00000169288|ENSG00000169288	ENST00000502384|ENST00000504901	.|.	.|.	.|.	5.56|5.56	0.441|0.441	0.16577|0.16577	.|.	.|.	.|.	.|.	.|.	T|T	0.43678|0.43678	0.1258|0.1258	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.19811|0.19811	-1.0294|-1.0294	4|4	.|.	.|.	.|.	-5.4055|-5.4055	3.3148|3.3148	0.07029|0.07029	0.4968:0.3074:0.0816:0.1142|0.4968:0.3074:0.0816:0.1142	.|.	.|.	.|.	.|.	V|C	190|30	.|.	.|.	I|Y	+|+	1|2	0|0	MRPL1|MRPL1	79049481|79049481	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.030000|0.030000	0.12068|0.12068	0.615000|0.615000	0.24329|0.24329	-0.135000|-0.135000	0.11495|0.11495	-3.480000|-3.480000	0.00034|0.00034	ATT|TAT		0.303	MRPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252518.3	NM_020236		40	98	0	0	0	0.00361	0	40	98				
SEC31A	22872	broad.mit.edu	37	4	83748590	83748590	+	Missense_Mutation	SNP	T	T	C			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr4:83748590T>C	ENST00000395310.2	-	24	3405	c.3223A>G	c.(3223-3225)Atg>Gtg	p.M1075V	SEC31A_ENST00000448323.1_Missense_Mutation_p.M1075V|SEC31A_ENST00000355196.2_Missense_Mutation_p.M1075V|SEC31A_ENST00000264405.5_Missense_Mutation_p.M824V|SEC31A_ENST00000443462.2_Missense_Mutation_p.M1055V|SEC31A_ENST00000513858.1_Missense_Mutation_p.M922V|SEC31A_ENST00000509142.1_Missense_Mutation_p.M961V|SEC31A_ENST00000500777.2_Missense_Mutation_p.M922V|SEC31A_ENST00000348405.4_Missense_Mutation_p.M1036V|SEC31A_ENST00000505984.1_Missense_Mutation_p.M1021V|SEC31A_ENST00000326950.5_Missense_Mutation_p.M1036V|SEC31A_ENST00000311785.7_Missense_Mutation_p.M961V|SEC31A_ENST00000432794.1_Missense_Mutation_p.M1088V|SEC31A_ENST00000508502.1_Missense_Mutation_p.M1060V|SEC31A_ENST00000505472.1_Missense_Mutation_p.M1106V	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)	1075	Interaction with PDCD6.|Pro-rich.				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)				GATGGTGGCATGCCTGTTTGA	0.498																																							uc003hnf.2		NA																SEC31A/JAK2(4)|SEC31A/ALK(3)	0				haematopoietic_and_lymphoid_tissue(4)|soft_tissue(3)|breast(1)	8						c.(3223-3225)ATG>GTG		SEC31 homolog A isoform 1							185.0	178.0	180.0					4																	83748590		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.chr4:83748590T>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.3223A>G	4.37:g.83748590T>C	ENSP00000378721:p.Met1075Val					SEC31A_uc003hnd.2_Missense_Mutation_p.M244V|SEC31A_uc003hne.2_Missense_Mutation_p.M824V|SEC31A_uc011ccl.1_Missense_Mutation_p.M1021V|SEC31A_uc003hnl.2_Missense_Mutation_p.M922V|SEC31A_uc003hng.2_Missense_Mutation_p.M1060V|SEC31A_uc003hnh.2_Missense_Mutation_p.M1075V|SEC31A_uc003hni.2_Missense_Mutation_p.M961V|SEC31A_uc003hnj.2_Missense_Mutation_p.M1036V|SEC31A_uc011ccm.1_Missense_Mutation_p.M1055V|SEC31A_uc011ccn.1_Missense_Mutation_p.M1060V|SEC31A_uc003hnk.2_Missense_Mutation_p.M1036V|SEC31A_uc003hnm.2_Missense_Mutation_p.M1075V	p.M1075V	NM_001077207	NP_001070675	O94979	SC31A_HUMAN			24	3387	-		Hepatocellular(203;0.114)	1075			Interaction with PDCD6.|Pro-rich.		B4DIW6|B7ZKZ7|B7ZL00|H7C2W3|Q17RR5|Q5H9P6|Q5XG74|Q659G7|Q6ZU90|Q7LCX9|Q86TJ0|Q8IZH4|Q9P048|Q9P0A6|Q9UM05|Q9UM06	Missense_Mutation	SNP	ENST00000395310.2	37	c.3223A>G	CCDS3596.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	2.068|2.068	-0.413802|-0.413802	0.04799|0.04799	.|.	.|.	ENSG00000138674|ENSG00000138674	ENST00000515062;ENST00000511338|ENST00000348405;ENST00000513858;ENST00000395310;ENST00000443462;ENST00000509142;ENST00000432794;ENST00000448323;ENST00000326950;ENST00000311785;ENST00000505472;ENST00000500777;ENST00000508502;ENST00000355196;ENST00000264405;ENST00000505984	.|T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	.|0.37584	.|1.39;1.25;2.44;2.47;1.31;2.37;2.44;1.39;1.31;1.19;1.25;2.47;2.44;3.32;2.4	5.63|5.63	3.1|3.1	0.35709|0.35709	.|.	.|0.443768	.|0.28119	.|N	.|0.016533	T|T	0.17280|0.17280	0.0415|0.0415	N|N	0.12746|0.12746	0.255|0.255	0.21984|0.21984	N|N	0.999437|0.999437	.|B;B;B;B;B;B;B;B;B	.|0.02656	.|0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0	.|B;B;B;B;B;B;B;B;B	.|0.08055	.|0.001;0.0;0.001;0.001;0.001;0.001;0.0;0.003;0.001	T|T	0.19484|0.19484	-1.0304|-1.0304	5|10	.|0.23302	.|T	.|0.38	-5.0044|-5.0044	6.0021|6.0021	0.19527|0.19527	0.0:0.1375:0.2562:0.6063|0.0:0.1375:0.2562:0.6063	.|.	.|1055;1021;922;1036;961;1060;1075;824;1088	.|B4DIW6;B7ZL00;O94979-6;O94979-4;O94979-3;O94979-2;O94979;O94979-7;O94979-8	.|.;.;.;.;.;.;SC31A_HUMAN;.;.	R|V	59;171|1036;922;1075;1055;961;1088;1075;1036;961;1106;922;1060;1075;824;1021	.|ENSP00000337602:M1036V;ENSP00000426886:M922V;ENSP00000378721:M1075V;ENSP00000408027:M1055V;ENSP00000426569:M961V;ENSP00000407944:M1088V;ENSP00000400926:M1075V;ENSP00000325087:M1036V;ENSP00000309070:M961V;ENSP00000421633:M1106V;ENSP00000421464:M922V;ENSP00000424635:M1060V;ENSP00000347329:M1075V;ENSP00000264405:M824V;ENSP00000424451:M1021V	.|ENSP00000264405:M824V	H|M	-|-	2|1	0|0	SEC31A|SEC31A	83967614|83967614	0.893000|0.893000	0.30496|0.30496	1.000000|1.000000	0.80357|0.80357	0.047000|0.047000	0.14425|0.14425	0.765000|0.765000	0.26546|0.26546	0.378000|0.378000	0.24764|0.24764	-0.441000|-0.441000	0.05720|0.05720	CAT|ATG		0.498	SEC31A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252640.1	NM_016211		92	29	0	0	0	0.00361	0	92	29				
DMP1	1758	broad.mit.edu	37	4	88580622	88580622	+	Missense_Mutation	SNP	G	G	C			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr4:88580622G>C	ENST00000339673.6	+	5	274	c.175G>C	c.(175-177)Gag>Cag	p.E59Q	RP11-742B18.1_ENST00000506480.1_RNA|DMP1_ENST00000282479.7_Intron|RP11-742B18.1_ENST00000507894.1_RNA|RP11-742B18.1_ENST00000506814.1_RNA	NM_004407.3	NP_004398.1	Q13316	DMP1_HUMAN	dentin matrix acidic phosphoprotein 1	59					biomineral tissue development (GO:0031214)|extracellular matrix organization (GO:0030198)|ossification (GO:0001503)|positive regulation of cell-substrate adhesion (GO:0010811)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleus (GO:0005634)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix binding (GO:0050840)|integrin binding (GO:0005178)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(1)|stomach(1)	32		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.227)		OV - Ovarian serous cystadenocarcinoma(123;0.000516)		AGTTAGCTCAGAGGAACAGGT	0.348																																							uc003hqv.2		NA																	0				pancreas(1)|skin(1)	2						c.(175-177)GAG>CAG		dentin matrix acidic phosphoprotein 1 isoform 1							100.0	107.0	105.0					4																	88580622		2203	4300	6503	SO:0001583	missense	1758				biomineral tissue development|ossification	cytoplasm|nucleus|proteinaceous extracellular matrix	calcium ion binding|integrin binding	g.chr4:88580622G>C	U34037	CCDS3623.1, CCDS43249.1	4q21	2008-08-29	2008-08-29		ENSG00000152592	ENSG00000152592			2932	protein-coding gene	gene with protein product		600980	"""dentin matrix acidic phosphoprotein"""			8586437, 9177774	Standard	NM_001079911		Approved		uc003hqv.3	Q13316	OTTHUMG00000130598	ENST00000339673.6:c.175G>C	4.37:g.88580622G>C	ENSP00000340935:p.Glu59Gln					DMP1_uc003hqw.2_Intron	p.E59Q	NM_004407	NP_004398	Q13316	DMP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000516)	5	279	+		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.227)	59					A1L4L3|O43265	Missense_Mutation	SNP	ENST00000339673.6	37	c.175G>C	CCDS3623.1	.	.	.	.	.	.	.	.	.	.	G	14.19	2.460226	0.43736	.	.	ENSG00000152592	ENST00000339673	T	0.58060	0.36	6.07	2.94	0.34122	.	0.107611	0.41712	D	0.000840	T	0.55561	0.1928	L	0.42245	1.32	0.80722	D	1	D	0.63880	0.993	P	0.61070	0.883	T	0.55127	-0.8189	10	0.62326	D	0.03	-13.5232	6.0434	0.19746	0.1767:0.0:0.6681:0.1552	.	59	Q13316	DMP1_HUMAN	Q	59	ENSP00000340935:E59Q	ENSP00000340935:E59Q	E	+	1	0	DMP1	88799646	1.000000	0.71417	1.000000	0.80357	0.739000	0.42172	1.996000	0.40776	0.852000	0.35287	0.655000	0.94253	GAG		0.348	DMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253047.1			8	85	0	0	0	0.008291	0	8	85				
SPP1	6696	broad.mit.edu	37	4	88902898	88902898	+	Missense_Mutation	SNP	T	T	C			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr4:88902898T>C	ENST00000395080.3	+	6	615	c.488T>C	c.(487-489)gTg>gCg	p.V163A	SPP1_ENST00000360804.4_Missense_Mutation_p.V136A|SPP1_ENST00000509659.1_3'UTR|SPP1_ENST00000237623.7_Missense_Mutation_p.V149A	NM_001040058.1|NM_001251830.1	NP_001035147.1|NP_001238759.1	P10451	OSTP_HUMAN	secreted phosphoprotein 1	163					biomineral tissue development (GO:0031214)|cell adhesion (GO:0007155)|decidualization (GO:0046697)|embryo implantation (GO:0007566)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inflammatory response (GO:0006954)|negative regulation of collateral sprouting of intact axon in response to injury (GO:0048685)|neutrophil chemotaxis (GO:0030593)|osteoblast differentiation (GO:0001649)|positive regulation of bone resorption (GO:0045780)|positive regulation of cell-substrate adhesion (GO:0010811)|response to steroid hormone (GO:0048545)|response to vitamin D (GO:0033280)	apical part of cell (GO:0045177)|cell projection (GO:0042995)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471)	extracellular matrix binding (GO:0050840)			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(3)|skin(1)	13		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-05)		GGTGATAGTGTGGTTTATGGA	0.473																																							uc003hra.2		NA																	0				ovary(1)	1						c.(487-489)GTG>GCG		secreted phosphoprotein 1 isoform a							149.0	136.0	140.0					4																	88902898		2203	4300	6503	SO:0001583	missense	6696				biomineral tissue development|cell adhesion|decidualization|embryo implantation|ossification|response to vitamin D	extracellular space	cytokine activity	g.chr4:88902898T>C		CCDS3626.1, CCDS34027.1, CCDS43250.1	4q22.1	2014-01-30	2008-07-31		ENSG00000118785	ENSG00000118785		"""Endogenous ligands"""	11255	protein-coding gene	gene with protein product	"""early T-lymphocyte activation 1"""	166490	"""osteopontin"", ""bone sialoprotein I"""	BNSP, OPN		1575754	Standard	NM_001251829		Approved	BSPI, ETA-1	uc003hra.3	P10451	OTTHUMG00000130599	ENST00000395080.3:c.488T>C	4.37:g.88902898T>C	ENSP00000378517:p.Val163Ala					SPP1_uc003hrb.2_Missense_Mutation_p.V136A|SPP1_uc003hrc.2_Missense_Mutation_p.V149A|SPP1_uc011cde.1_Missense_Mutation_p.V176A|SPP1_uc003hrd.2_Missense_Mutation_p.V122A	p.V163A	NM_001040058	NP_001035147	P10451	OSTP_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;9.87e-05)	6	653	+		Hepatocellular(203;0.114)	163					B2RDA1|Q15681|Q15682|Q15683|Q4W597|Q567T5|Q8NBK2|Q96IZ1	Missense_Mutation	SNP	ENST00000395080.3	37	c.488T>C	CCDS43250.1	.	.	.	.	.	.	.	.	.	.	T	13.38	2.219654	0.39201	.	.	ENSG00000118785	ENST00000359072;ENST00000535912;ENST00000237623;ENST00000395080;ENST00000360804;ENST00000508233	T;T;T;T	0.39997	1.05;1.05;1.05;1.05	4.96	3.74	0.42951	.	0.586078	0.15609	N	0.253501	T	0.47078	0.1426	L	0.54323	1.7	0.09310	N	1	B;P;B;P;B	0.52170	0.376;0.951;0.058;0.625;0.058	B;P;B;B;B	0.54759	0.227;0.76;0.122;0.339;0.122	T	0.39035	-0.9633	10	0.72032	D	0.01	0.0157	4.2909	0.10878	0.177:0.0924:0.0:0.7306	.	176;122;149;136;163	B7Z351;Q3LGB0;B2RDA1;Q567T5;P10451	.;.;.;.;OSTP_HUMAN	A	141;122;149;163;136;122	ENSP00000237623:V149A;ENSP00000378517:V163A;ENSP00000354042:V136A;ENSP00000422973:V122A	ENSP00000237623:V149A	V	+	2	0	SPP1	89121922	0.705000	0.27846	0.002000	0.10522	0.014000	0.08584	2.758000	0.47565	0.968000	0.38212	0.519000	0.50382	GTG		0.473	SPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253048.3			16	86	0	0	0	0.007413	0	16	86				
MMRN1	22915	broad.mit.edu	37	4	90856810	90856810	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr4:90856810G>T	ENST00000394980.1	+	7	2298	c.1979G>T	c.(1978-1980)aGa>aTa	p.R660I	MMRN1_ENST00000508372.1_Missense_Mutation_p.R402I|MMRN1_ENST00000264790.2_Missense_Mutation_p.R660I|MMRN1_ENST00000394981.1_Intron			Q13201	MMRN1_HUMAN	multimerin 1	660					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|platelet alpha granule lumen (GO:0031093)				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		GCATCACTCAGACAGACAATG	0.358																																							uc003hst.2		NA																	0				ovary(4)	4						c.(1978-1980)AGA>ATA		multimerin 1							63.0	61.0	61.0					4																	90856810		2203	4300	6503	SO:0001583	missense	22915				cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen		g.chr4:90856810G>T	U27109	CCDS3635.1	4q22	2008-02-05	2004-03-02	2004-03-02	ENSG00000138722	ENSG00000138722		"""EMI domain containing"""	7178	protein-coding gene	gene with protein product	"""glycoprotein Ia*"""	601456	"""multimerin"""	MMRN		7629143, 10828608	Standard	NM_007351		Approved	ECM, EMILIN4, GPIa*	uc003hst.3	Q13201	OTTHUMG00000130947	ENST00000394980.1:c.1979G>T	4.37:g.90856810G>T	ENSP00000378431:p.Arg660Ile					MMRN1_uc010iku.2_Intron|MMRN1_uc011cds.1_Missense_Mutation_p.R402I	p.R660I	NM_007351	NP_031377	Q13201	MMRN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)	6	2050	+		Hepatocellular(203;0.114)	660					Q4W5L1|Q6P3T8|Q6ZUL9	Missense_Mutation	SNP	ENST00000394980.1	37	c.1979G>T	CCDS3635.1	.	.	.	.	.	.	.	.	.	.	G	4.201	0.035968	0.08148	.	.	ENSG00000138722	ENST00000394980;ENST00000264790;ENST00000508372	T;T;T	0.65916	0.18;0.18;-0.18	4.84	-4.14	0.03892	.	1.054290	0.07384	N	0.887995	T	0.51193	0.1660	L	0.57536	1.79	0.09310	N	1	P	0.41265	0.744	B	0.36030	0.216	T	0.47129	-0.9141	10	0.37606	T	0.19	.	8.3295	0.32178	0.614:0.0:0.2738:0.1122	.	660	Q13201	MMRN1_HUMAN	I	660;660;402	ENSP00000378431:R660I;ENSP00000264790:R660I;ENSP00000426461:R402I	ENSP00000264790:R660I	R	+	2	0	MMRN1	91075833	0.000000	0.05858	0.000000	0.03702	0.024000	0.10985	0.018000	0.13422	-0.869000	0.04052	-0.150000	0.13652	AGA		0.358	MMRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253546.2	NM_007351		47	18	1	0	6.08268e-21	0.00361	8.76775e-21	47	18				
NDST4	64579	broad.mit.edu	37	4	115997976	115997976	+	Missense_Mutation	SNP	T	T	G			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr4:115997976T>G	ENST00000264363.2	-	2	895	c.217A>C	c.(217-219)Aca>Cca	p.T73P		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	73	Heparan sulfate N-deacetylase 4.				heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|deacetylase activity (GO:0019213)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		GTTTTGGATGTGTCAATAGGT	0.418																																							uc003ibu.2		NA																	0				skin(3)|ovary(1)	4						c.(217-219)ACA>CCA		heparan sulfate N-deacetylase/N-sulfotransferase							171.0	193.0	186.0					4																	115997976		2203	4300	6503	SO:0001583	missense	64579					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity	g.chr4:115997976T>G	AB036429	CCDS3706.1	4q26	2008-02-05			ENSG00000138653	ENSG00000138653		"""Sulfotransferases, membrane-bound"""	20779	protein-coding gene	gene with protein product		615039				11087757	Standard	NM_022569		Approved		uc003ibu.3	Q9H3R1	OTTHUMG00000132916	ENST00000264363.2:c.217A>C	4.37:g.115997976T>G	ENSP00000264363:p.Thr73Pro					NDST4_uc010imw.2_Intron	p.T73P	NM_022569	NP_072091	Q9H3R1	NDST4_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000562)	2	896	-		Ovarian(17;0.156)	73			Lumenal (Potential).|Heparan sulfate N-deacetylase 4.		Q2KHM8	Missense_Mutation	SNP	ENST00000264363.2	37	c.217A>C	CCDS3706.1	.	.	.	.	.	.	.	.	.	.	T	0.736	-0.778247	0.02929	.	.	ENSG00000138653	ENST00000264363	T	0.36520	1.25	5.41	4.23	0.50019	.	0.099833	0.64402	D	0.000001	T	0.16128	0.0388	N	0.11201	0.11	0.34572	D	0.713508	B	0.02656	0.0	B	0.10450	0.005	T	0.12016	-1.0564	10	0.26408	T	0.33	.	2.9076	0.05726	0.1237:0.0816:0.1899:0.6048	.	73	Q9H3R1	NDST4_HUMAN	P	73	ENSP00000264363:T73P	ENSP00000264363:T73P	T	-	1	0	NDST4	116217425	1.000000	0.71417	0.995000	0.50966	0.352000	0.29268	1.550000	0.36223	0.894000	0.36317	0.383000	0.25322	ACA		0.418	NDST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256427.1	NM_022569		49	25	0	0	0	0.00361	0	49	25				
KIAA1109	84162	broad.mit.edu	37	4	123164214	123164214	+	Nonsense_Mutation	SNP	C	C	G			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr4:123164214C>G	ENST00000264501.4	+	30	5106	c.4733C>G	c.(4732-4734)tCa>tGa	p.S1578*	KIAA1109_ENST00000388738.3_Nonsense_Mutation_p.S1578*|KIAA1109_ENST00000455637.1_Nonsense_Mutation_p.S1578*			Q2LD37	K1109_HUMAN	KIAA1109	1578					regulation of cell growth (GO:0001558)|regulation of epithelial cell differentiation (GO:0030856)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						CTTTCAGGATCAACTTCAAAG	0.303																																							uc003ieh.2		NA																	0				ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1)	12						c.(4732-4734)TCA>TGA		fragile site-associated protein							96.0	96.0	96.0					4																	123164214		1815	4084	5899	SO:0001587	stop_gained	84162				regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus		g.chr4:123164214C>G	AL137384	CCDS43267.1	4q28.1	2012-07-09			ENSG00000138688	ENSG00000138688			26953	protein-coding gene	gene with protein product	"""fragile site-associated"""	611565				16386706	Standard	NM_015312		Approved	FLJ21404, FSA, KIAA1371, Tweek	uc003ieh.3	Q2LD37	OTTHUMG00000150116	ENST00000264501.4:c.4733C>G	4.37:g.123164214C>G	ENSP00000264501:p.Ser1578*					KIAA1109_uc003iek.2_Nonsense_Mutation_p.S197*	p.S1578*	NM_015312	NP_056127	Q2LD37	K1109_HUMAN			28	4778	+			1578					Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Nonsense_Mutation	SNP	ENST00000264501.4	37	c.4733C>G	CCDS43267.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	45|45	11.563676|11.563676	0.99576|0.99576	.|.	.|.	ENSG00000138688|ENSG00000138688	ENST00000446180|ENST00000264501;ENST00000388738;ENST00000455637	.|.	.|.	.|.	5.38|5.38	5.38|5.38	0.77491|0.77491	.|.	.|0.461262	.|0.15068	.|U	.|0.282373	T|.	0.78123|.	0.4234|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.79591|.	-0.1740|.	3|.	.|0.59425	.|D	.|0.04	.|.	19.1334|19.1334	0.93417|0.93417	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	E|X	151|1578	.|.	.|ENSP00000264501:S1578X	Q|S	+|+	1|2	0|0	KIAA1109|KIAA1109	123383664|123383664	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	5.250000|5.250000	0.65432|0.65432	2.511000|2.511000	0.84671|0.84671	0.650000|0.650000	0.86243|0.86243	CAA|TCA		0.303	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316415.1	NM_020797		7	137	0	0	0	0.006214	0	7	137				
FAT4	79633	broad.mit.edu	37	4	126241663	126241663	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr4:126241663G>T	ENST00000394329.3	+	1	4110	c.4097G>T	c.(4096-4098)aGc>aTc	p.S1366I		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	1366	Cadherin 13. {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						TTTAGCATTAGCCCAAACACT	0.383																																							uc003ifj.3		NA																	0				ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						c.(4096-4098)AGC>ATC		FAT tumor suppressor homolog 4 precursor							128.0	119.0	122.0					4																	126241663		1837	4093	5930	SO:0001583	missense	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126241663G>T	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.4097G>T	4.37:g.126241663G>T	ENSP00000377862:p.Ser1366Ile						p.S1366I	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN			1	4097	+			1366			Cadherin 13.|Extracellular (Potential).		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	c.4097G>T	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	G	16.58	3.163190	0.57476	.	.	ENSG00000196159	ENST00000394329	T	0.21191	2.02	4.87	4.87	0.63330	Cadherin (4);Cadherin-like (1);	0.000000	0.40385	U	0.001108	T	0.39784	0.1091	L	0.39245	1.2	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	T	0.18461	-1.0336	10	0.62326	D	0.03	.	18.1883	0.89799	0.0:0.0:1.0:0.0	.	1366	Q6V0I7	FAT4_HUMAN	I	1366	ENSP00000377862:S1366I	ENSP00000377862:S1366I	S	+	2	0	FAT4	126461113	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.666000	0.83877	2.535000	0.85469	0.655000	0.94253	AGC		0.383	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		62	107	1	0	5.44642e-36	0.00361	8.54656e-36	62	107				
TTC29	83894	broad.mit.edu	37	4	147824710	147824710	+	Missense_Mutation	SNP	A	A	G			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr4:147824710A>G	ENST00000325106.4	-	6	798	c.572T>C	c.(571-573)cTc>cCc	p.L191P	TTC29_ENST00000513335.1_Missense_Mutation_p.L217P|TTC29_ENST00000398886.4_Missense_Mutation_p.L217P	NM_031956.2	NP_114162.2	Q8NA56	TTC29_HUMAN	tetratricopeptide repeat domain 29	191										breast(2)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	26	all_hematologic(180;0.151)					TTCCTCGTAGAGAAGACCCAT	0.458																																							uc003ikw.3		NA																	0					0						c.(571-573)CTC>CCC		tetratricopeptide repeat domain 29							98.0	95.0	96.0					4																	147824710		1910	4125	6035	SO:0001583	missense	83894						binding	g.chr4:147824710A>G	AF345910	CCDS47141.1, CCDS75200.1	4q31.23	2013-01-11				ENSG00000137473		"""Tetratricopeptide (TTC) repeat domain containing"""	29936	protein-coding gene	gene with protein product						12477932	Standard	NM_031956		Approved	NYD-SP14	uc003ikw.4	Q8NA56		ENST00000325106.4:c.572T>C	4.37:g.147824710A>G	ENSP00000316740:p.Leu191Pro					TTC29_uc010ipc.2_RNA|TTC29_uc003ikx.3_Missense_Mutation_p.L217P|TTC29_uc010ipd.1_Missense_Mutation_p.L191P	p.L191P	NM_031956	NP_114162	Q8NA56	TTC29_HUMAN			6	799	-	all_hematologic(180;0.151)		191			TPR 1.		A4GU95|Q9BXB6	Missense_Mutation	SNP	ENST00000325106.4	37	c.572T>C	CCDS47141.1	.	.	.	.	.	.	.	.	.	.	A	15.92	2.975769	0.53720	.	.	ENSG00000137473	ENST00000513335;ENST00000398886;ENST00000325106;ENST00000398883;ENST00000504425	T;T;T;T	0.26067	1.76;1.76;1.76;1.76	5.62	5.62	0.85841	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.333758	0.29791	N	0.011191	T	0.38295	0.1035	L	0.47716	1.5	0.58432	D	0.999997	D;D;D	0.62365	0.991;0.986;0.991	P;P;P	0.57152	0.761;0.814;0.761	T	0.06481	-1.0824	10	0.42905	T	0.14	-10.957	14.4249	0.67207	1.0:0.0:0.0:0.0	.	191;217;191	E7EQ14;G5E9Z5;Q8NA56	.;.;TTC29_HUMAN	P	217;217;191;191;191	ENSP00000423505:L217P;ENSP00000381861:L217P;ENSP00000316740:L191P;ENSP00000425778:L191P	ENSP00000316740:L191P	L	-	2	0	TTC29	148044160	1.000000	0.71417	0.999000	0.59377	0.437000	0.31866	6.266000	0.72540	2.141000	0.66446	0.528000	0.53228	CTC		0.458	TTC29-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_031956		7	20	0	0	0	0.004482	0	7	20				
RBM46	166863	broad.mit.edu	37	4	155720326	155720326	+	Nonsense_Mutation	SNP	G	G	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr4:155720326G>T	ENST00000281722.3	+	4	1247	c.1012G>T	c.(1012-1014)Gag>Tag	p.E338*	RBM46_ENST00000514866.1_Nonsense_Mutation_p.E338*|RBM46_ENST00000510397.1_Nonsense_Mutation_p.E338*	NM_144979.3	NP_659416.1	Q8TBY0	RBM46_HUMAN	RNA binding motif protein 46	338							nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(7)|skin(3)|urinary_tract(2)	26	all_hematologic(180;0.24)	Renal(120;0.0854)				TAACAAAGAAGAGAGCCACCC	0.428																																							uc003ioo.2		NA																	0				central_nervous_system(1)|skin(1)	2						c.(1012-1014)GAG>TAG		RNA binding motif protein 46							70.0	75.0	73.0					4																	155720326		2202	4300	6502	SO:0001587	stop_gained	166863						nucleotide binding|RNA binding	g.chr4:155720326G>T	BC028588	CCDS3790.1, CCDS64085.1, CCDS64086.1	4q32.1	2013-02-12				ENSG00000151962		"""RNA binding motif (RRM) containing"""	28401	protein-coding gene	gene with protein product	"""cancer/testis antigen 68"""					12477932	Standard	NM_144979		Approved	MGC27016, CT68	uc003ioo.4	Q8TBY0		ENST00000281722.3:c.1012G>T	4.37:g.155720326G>T	ENSP00000281722:p.Glu338*					RBM46_uc011cim.1_Nonsense_Mutation_p.E338*|RBM46_uc003iop.1_Nonsense_Mutation_p.E338*	p.E338*	NM_144979	NP_659416	Q8TBY0	RBM46_HUMAN			4	1185	+	all_hematologic(180;0.24)	Renal(120;0.0854)	338					B3KWU8|B4DZ27	Nonsense_Mutation	SNP	ENST00000281722.3	37	c.1012G>T	CCDS3790.1	.	.	.	.	.	.	.	.	.	.	G	38	6.823375	0.97865	.	.	ENSG00000151962	ENST00000514866;ENST00000281722;ENST00000510397	.	.	.	6.17	6.17	0.99709	.	0.363577	0.30800	N	0.008852	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06625	T	0.88	-5.7686	20.8794	0.99867	0.0:0.0:1.0:0.0	.	.	.	.	X	338	.	ENSP00000281722:E338X	E	+	1	0	RBM46	155939776	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	4.842000	0.62831	2.941000	0.99782	0.655000	0.94253	GAG		0.428	RBM46-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365259.1	NM_144979		6	53	1	0	2.17888e-05	0.006214	2.40535e-05	6	53				
PPID	5481	broad.mit.edu	37	4	159644357	159644357	+	Splice_Site	SNP	T	T	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr4:159644357T>A	ENST00000307720.3	-	1	191	c.84A>T	c.(82-84)cgA>cgT	p.R28R		NM_005038.2	NP_005029.1	Q08752	PPID_HUMAN	peptidylprolyl isomerase D	28	PPIase cyclophilin-type. {ECO:0000255|PROSITE-ProRule:PRU00156}.				apoptotic process (GO:0006915)|cellular response to UV-A (GO:0071492)|chaperone-mediated protein folding (GO:0061077)|lipid particle organization (GO:0034389)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of apoptotic process (GO:0043065)|positive regulation of protein secretion (GO:0050714)|positive regulation of viral genome replication (GO:0045070)|protein complex assembly (GO:0006461)|protein folding (GO:0006457)|protein transport (GO:0015031)|viral release from host cell (GO:0019076)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	cyclosporin A binding (GO:0016018)|estrogen receptor binding (GO:0030331)|heat shock protein binding (GO:0031072)|Hsp70 protein binding (GO:0030544)|Hsp90 protein binding (GO:0051879)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|transcription factor binding (GO:0008134)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|skin(1)	8	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0159)		TCCGCTCACCTCGCTCCCCTC	0.647																																							uc003iqc.2		NA																	0					0						c.(82-84)CGA>CGT		peptidylprolyl isomerase D							53.0	49.0	51.0					4																	159644357		2203	4300	6503	SO:0001630	splice_region_variant	5481				protein folding	cytoplasm|intermediate filament cytoskeleton	cyclosporin A binding|heat shock protein binding|peptidyl-prolyl cis-trans isomerase activity	g.chr4:159644357T>A		CCDS3801.1	4q31.3	2013-01-10	2008-10-24		ENSG00000171497	ENSG00000171497		"""Tetratricopeptide (TTC) repeat domain containing"""	9257	protein-coding gene	gene with protein product	"""cyclophilin 40"""	601753	"""peptidylprolyl isomerase D (cyclophilin D)"""			8509368	Standard	NM_005038		Approved	CYP-40	uc003iqc.3	Q08752	OTTHUMG00000161927	ENST00000307720.3:c.85+1A>T	4.37:g.159644357T>A							p.R28R	NM_005038	NP_005029	Q08752	PPID_HUMAN		COAD - Colon adenocarcinoma(41;0.0159)	1	196	-	all_hematologic(180;0.24)		28			PPIase cyclophilin-type.		B2R9V2	Silent	SNP	ENST00000307720.3	37	c.84A>T	CCDS3801.1																																																																																				0.647	PPID-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366436.1	NM_005038	Silent	31	9	0	0	0	0.003271	0	31	9				
FSTL5	56884	broad.mit.edu	37	4	162402214	162402214	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr4:162402214G>T	ENST00000306100.5	-	13	2002	c.1566C>A	c.(1564-1566)gaC>gaA	p.D522E	FSTL5_ENST00000379164.4_Missense_Mutation_p.D521E|FSTL5_ENST00000536695.1_Missense_Mutation_p.D521E|FSTL5_ENST00000427802.2_Missense_Mutation_p.D512E	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	522						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		TAAGGACTCTGTCCAAAGTTG	0.353																																							uc003iqh.2		NA																	0				ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|skin(1)	8						c.(1564-1566)GAC>GAA		follistatin-like 5 isoform a							135.0	128.0	130.0					4																	162402214		2203	4300	6503	SO:0001583	missense	56884					extracellular region	calcium ion binding	g.chr4:162402214G>T	BC036502	CCDS3802.1, CCDS47157.1, CCDS47158.1	4q32.3	2013-01-11			ENSG00000168843	ENSG00000168843		"""EF-hand domain containing"", ""Immunoglobulin superfamily / I-set domain containing"""	21386	protein-coding gene	gene with protein product						10574462, 15527507	Standard	NM_020116		Approved	DKFZp566D234, KIAA1263	uc003iqh.4	Q8N475	OTTHUMG00000161397	ENST00000306100.5:c.1566C>A	4.37:g.162402214G>T	ENSP00000305334:p.Asp522Glu					FSTL5_uc003iqi.2_Missense_Mutation_p.D521E|FSTL5_uc010iqv.2_Missense_Mutation_p.D512E	p.D522E	NM_020116	NP_064501	Q8N475	FSTL5_HUMAN		COAD - Colon adenocarcinoma(41;0.179)	13	2002	-	all_hematologic(180;0.24)		522					E9PCP6|Q9NSW7|Q9ULF7	Missense_Mutation	SNP	ENST00000306100.5	37	c.1566C>A	CCDS3802.1	.	.	.	.	.	.	.	.	.	.	G	18.56	3.649582	0.67358	.	.	ENSG00000168843	ENST00000306100;ENST00000379164;ENST00000427802;ENST00000536695	T;T;T;T	0.35605	1.3;1.3;1.3;1.3	5.51	2.85	0.33270	WD40/YVTN repeat-like-containing domain (1);	0.177813	0.64402	D	0.000011	T	0.34919	0.0914	L	0.58101	1.795	0.38521	D	0.948739	P;P;B	0.44195	0.745;0.828;0.293	B;B;B	0.42593	0.251;0.392;0.039	T	0.13656	-1.0501	10	0.31617	T	0.26	.	11.0844	0.48078	0.1881:0.0:0.8119:0.0	.	512;521;522	E9PCP6;F8VZ90;Q8N475	.;.;FSTL5_HUMAN	E	522;521;512;521	ENSP00000305334:D522E;ENSP00000368462:D521E;ENSP00000389270:D512E;ENSP00000440409:D521E	ENSP00000305334:D522E	D	-	3	2	FSTL5	162621664	1.000000	0.71417	0.997000	0.53966	0.865000	0.49528	1.536000	0.36072	0.276000	0.22118	0.650000	0.86243	GAC		0.353	FSTL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364773.2	NM_020116		39	93	1	0	6.48837e-15	0.002522	8.7058e-15	39	93				
FAM218A	152756	broad.mit.edu	37	4	165878576	165878576	+	Silent	SNP	T	T	C			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr4:165878576T>C	ENST00000513876.2	+	1	477	c.402T>C	c.(400-402)ccT>ccC	p.P134P	TRIM61_ENST00000329314.5_Intron	NM_153027.1	NP_694572.1	Q96MZ4	F218A_HUMAN	family with sequence similarity 218, member A	134																	GGTCCCAGCCTCTTTTTGTGA	0.572																																							uc003iqx.1		NA																	0					0						c.(400-402)CCT>CCC		hypothetical protein LOC152756							73.0	74.0	74.0					4																	165878576		2203	4300	6503	SO:0001819	synonymous_variant	152756							g.chr4:165878576T>C	AK056221	CCDS3807.1	4q32.3	2012-03-01	2012-03-01	2012-03-01	ENSG00000250486	ENSG00000250486			26466	protein-coding gene	gene with protein product			"""chromosome 4 open reading frame 39"""	C4orf39		12477932	Standard	NM_153027		Approved	FLJ31659	uc003iqx.1	Q96MZ4	OTTHUMG00000161252	ENST00000513876.2:c.402T>C	4.37:g.165878576T>C						TRIM61_uc003iqw.2_Intron	p.P134P	NM_153027	NP_694572	Q96MZ4	CD039_HUMAN		GBM - Glioblastoma multiforme(119;0.146)	1	477	+	all_hematologic(180;0.221)	Prostate(90;0.109)	134						Silent	SNP	ENST00000513876.2	37	c.402T>C	CCDS3807.1																																																																																				0.572	FAM218A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364308.1	NM_153027		3	77	0	0	0	0.001168	0	3	77				
DDX60	55601	broad.mit.edu	37	4	169146827	169146828	+	Splice_Site	DNP	CC	CC	AT			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	CC	CC	-	-	CC	CC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr4:169146827_169146828CC>AT	ENST00000393743.3	-	34	4825	c.4534_4534GG>AT	c.(4534-4536)GGgt>ATggt	p.G1512M		NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60	1512					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|positive regulation of MDA-5 signaling pathway (GO:1900245)|positive regulation of RIG-I signaling pathway (GO:1900246)|response to virus (GO:0009615)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)	ATP binding (GO:0005524)|double-stranded DNA binding (GO:0003690)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|single-stranded RNA binding (GO:0003727)			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		TCAAGGAACACCTAGAAGCCGA	0.332																																							uc003irp.2		NA																	0				ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.e34-1		DEAD (Asp-Glu-Ala-Asp) box polypeptide 60																																				SO:0001630	splice_region_variant	55601						ATP binding|ATP-dependent helicase activity|RNA binding	g.chr4:169146827_169146828CC>AT	AK001649	CCDS34097.1	4q32.3	2010-02-17			ENSG00000137628	ENSG00000137628			25942	protein-coding gene	gene with protein product		613974				12477932	Standard	NM_017631		Approved	FLJ20035	uc003irp.3	Q8IY21	OTTHUMG00000161350	ENST00000393743.3:c.4534_4534delinsAT	4.37:g.169146827_169146828delinsAT						DDX60_uc003iro.2_5'UTR	p.V1512_splice	NM_017631	NP_060101	Q8IY21	DDX60_HUMAN		GBM - Glioblastoma multiforme(119;0.0485)	34	4826	-		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)						Q6PK35|Q9NVE3	Splice_Site	DNP	ENST00000393743.3	37	c.4534_splice	CCDS34097.1																																																																																				0.332	DDX60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364622.1	NM_017631	Missense_Mutation	30	15	0	0	0	0.004672	0	30	15				
HAND2	9464	broad.mit.edu	37	4	174449985	174449985	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr4:174449985C>A	ENST00000359562.4	-	1	1395	c.456G>T	c.(454-456)atG>atT	p.M152I	HAND2-AS1_ENST00000515345.1_RNA|HAND2-AS1_ENST00000510221.1_RNA|HAND2-AS1_ENST00000502896.1_RNA|HAND2-AS1_ENST00000502941.1_RNA|HAND2-AS1_ENST00000509866.1_RNA|HAND2-AS1_ENST00000505817.1_RNA|HAND2-AS1_ENST00000512099.1_RNA|HAND2-AS1_ENST00000504429.1_RNA|HAND2-AS1_ENST00000502334.1_RNA|HAND2-AS1_ENST00000503309.1_RNA|HAND2_ENST00000505300.1_5'UTR|HAND2-AS1_ENST00000514431.1_RNA|HAND2-AS1_ENST00000511728.1_RNA|HAND2-AS1_ENST00000505032.1_RNA|HAND2-AS1_ENST00000507322.1_RNA|HAND2-AS1_ENST00000507571.1_RNA|HAND2-AS1_ENST00000507636.1_RNA|HAND2-AS1_ENST00000515350.1_RNA|HAND2-AS1_ENST00000512943.1_RNA|HAND2-AS1_ENST00000515376.1_RNA|HAND2-AS1_ENST00000503198.1_RNA|HAND2-AS1_ENST00000508534.1_RNA|HAND2-AS1_ENST00000512929.1_RNA|HAND2-AS1_ENST00000504740.1_RNA|HAND2-AS1_ENST00000508887.1_RNA|HAND2-AS1_ENST00000515741.1_RNA|HAND2-AS1_ENST00000515310.1_RNA|HAND2-AS1_ENST00000512209.2_RNA|HAND2-AS1_ENST00000512246.1_RNA|HAND2-AS1_ENST00000505621.1_RNA|HAND2-AS1_ENST00000503474.1_RNA|HAND2-AS1_ENST00000509640.1_RNA|HAND2-AS1_ENST00000514673.1_RNA|HAND2-AS1_ENST00000511196.1_RNA|HAND2-AS1_ENST00000507062.1_RNA|HAND2-AS1_ENST00000510268.1_RNA|HAND2-AS1_ENST00000510339.1_RNA	NM_021973.2	NP_068808.1	P61296	HAND2_HUMAN	heart and neural crest derivatives expressed 2	152					adult heart development (GO:0007512)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|apoptotic process involved in heart morphogenesis (GO:0003278)|cardiac neural crest cell development involved in outflow tract morphogenesis (GO:0061309)|cardiac neural crest cell migration involved in outflow tract morphogenesis (GO:0003253)|cardiac right ventricle formation (GO:0003219)|cartilage morphogenesis (GO:0060536)|cell proliferation involved in outflow tract morphogenesis (GO:0061325)|coronary artery morphogenesis (GO:0060982)|embryonic digit morphogenesis (GO:0042733)|heart development (GO:0007507)|heart looping (GO:0001947)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|mesenchymal cell proliferation (GO:0010463)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of DNA binding (GO:0043392)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|neural crest cell development (GO:0014032)|noradrenergic neuron differentiation (GO:0003357)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|peripheral nervous system neuron development (GO:0048935)|positive regulation of semaphorin-plexin signaling pathway involved in outflow tract morphogenesis (GO:2000764)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter involved in norepinephrine biosynthetic process (GO:2000763)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of secondary heart field cardioblast proliferation (GO:0003266)|regulation of transcription, DNA-templated (GO:0006355)|suckling behavior (GO:0001967)|sympathetic nervous system development (GO:0048485)|thymus development (GO:0048538)|tongue development (GO:0043586)|visceral serous pericardium development (GO:0061032)	nuclear chromatin (GO:0000790)|protein complex (GO:0043234)|transcription factor complex (GO:0005667)	activating transcription factor binding (GO:0033613)|AT DNA binding (GO:0003680)|E-box binding (GO:0070888)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			endometrium(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)	13		Prostate(90;0.00601)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_neural(102;0.0837)|all_hematologic(60;0.107)		all cancers(43;1.37e-18)|Epithelial(43;5.5e-17)|OV - Ovarian serous cystadenocarcinoma(60;3.3e-10)|STAD - Stomach adenocarcinoma(60;0.00273)|GBM - Glioblastoma multiforme(59;0.0064)|LUSC - Lung squamous cell carcinoma(193;0.0903)|Kidney(143;0.249)		CCAGCAGGTCCATGAGGTAGG	0.592																																							uc003ith.1		NA																	0				skin(1)	1						c.(454-456)ATG>ATT		basic helix-loop-helix transcription factor							154.0	136.0	142.0					4																	174449985		2203	4300	6503	SO:0001583	missense	9464				adult heart development|angiogenesis|apoptosis|cardiac neural crest cell development involved in outflow tract morphogenesis|heart looping|in utero embryonic development|negative regulation of cardiac muscle cell apoptosis|noradrenergic neuron differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|regulation of secondary heart field cardioblast proliferation|thymus development	nuclear chromatin|transcription factor complex	activating transcription factor binding|protein homodimerization activity|RNA polymerase II regulatory region sequence-specific DNA binding|transcription coactivator activity	g.chr4:174449985C>A	AF087941	CCDS3819.1	4q34.1	2014-08-12			ENSG00000164107	ENSG00000164107		"""Basic helix-loop-helix proteins"""	4808	protein-coding gene	gene with protein product		602407				9878849	Standard	NM_021973		Approved	dHand, Thing2, Hed, bHLHa26	uc003ith.1	P61296	OTTHUMG00000160775	ENST00000359562.4:c.456G>T	4.37:g.174449985C>A	ENSP00000352565:p.Met152Ile					NBLA00301_uc011ckd.1_5'Flank|NBLA00301_uc003itl.3_5'Flank|NBLA00301_uc003itj.2_5'Flank|NBLA00301_uc010irf.2_5'Flank|NBLA00301_uc010irg.2_5'Flank|NBLA00301_uc010irh.2_5'Flank|NBLA00301_uc010iri.2_5'Flank|NBLA00301_uc010irj.2_5'Flank|NBLA00301_uc010irk.2_5'Flank|NBLA00301_uc010irl.2_5'Flank|NBLA00301_uc010irm.2_5'Flank|NBLA00301_uc010irn.2_5'Flank|NBLA00301_uc003itk.2_5'Flank|HAND2_uc003itg.1_Nonsense_Mutation_p.G118*|HAND2_uc010ire.1_Missense_Mutation_p.M152I	p.M152I	NM_021973	NP_068808	P61296	HAND2_HUMAN		all cancers(43;1.37e-18)|Epithelial(43;5.5e-17)|OV - Ovarian serous cystadenocarcinoma(60;3.3e-10)|STAD - Stomach adenocarcinoma(60;0.00273)|GBM - Glioblastoma multiforme(59;0.0064)|LUSC - Lung squamous cell carcinoma(193;0.0903)|Kidney(143;0.249)	1	1394	-		Prostate(90;0.00601)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_neural(102;0.0837)|all_hematologic(60;0.107)	152			Helix-loop-helix motif.		B6ECG9|O95300|O95301|P97833|Q494T1	Missense_Mutation	SNP	ENST00000359562.4	37	c.456G>T	CCDS3819.1	.	.	.	.	.	.	.	.	.	.	C	27.7	4.858733	0.91433	.	.	ENSG00000164107	ENST00000359562;ENST00000393686;ENST00000535864	D	0.87729	-2.29	5.0	5.0	0.66597	Helix-loop-helix DNA-binding (4);	0.080217	0.85682	D	0.000000	D	0.87434	0.6176	L	0.29908	0.895	0.80722	D	1	P;P	0.48350	0.909;0.909	P;P	0.55011	0.766;0.766	D	0.85554	0.1223	10	0.29301	T;T	0.29;0.29	-22.4096	18.4905	0.90844	0.0:1.0:0.0:0.0	.	152;152	B6ECG9;P61296	.;HAND2_HUMAN	I	152;121;100	ENSP00000352565:M152I	ENSP00000352565:M152I;ENSP00000352565:M152I	M	-	3	0	HAND2	174686560	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.645000	0.83430	2.587000	0.87381	0.561000	0.74099	ATG		0.592	HAND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362241.3			33	71	1	0	1.07637e-12	0.004878	1.39059e-12	33	71				
WDR17	116966	broad.mit.edu	37	4	177071727	177071727	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr4:177071727C>A	ENST00000280190.4	+	17	2515	c.2359C>A	c.(2359-2361)Ctg>Atg	p.L787M	WDR17_ENST00000507824.2_Missense_Mutation_p.L770M|WDR17_ENST00000508596.1_Missense_Mutation_p.L763M|WDR17_ENST00000393643.2_Missense_Mutation_p.L763M			Q8IZU2	WDR17_HUMAN	WD repeat domain 17	787										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		CTTGAAACATCTGATTAAATT	0.303																																							uc003iuj.2		NA																	0				ovary(2)|skin(2)|pancreas(1)|central_nervous_system(1)	6						c.(2359-2361)CTG>ATG		WD repeat domain 17 isoform 1							86.0	83.0	84.0					4																	177071727		2203	4300	6503	SO:0001583	missense	116966							g.chr4:177071727C>A	AF492460	CCDS3825.1, CCDS43284.1, CCDS43284.2	4q34	2013-01-09			ENSG00000150627	ENSG00000150627		"""WD repeat domain containing"""	16661	protein-coding gene	gene with protein product		609005				12401215	Standard	NM_170710		Approved		uc003iuj.3	Q8IZU2	OTTHUMG00000160791	ENST00000280190.4:c.2359C>A	4.37:g.177071727C>A	ENSP00000280190:p.Leu787Met					WDR17_uc003iuk.2_Missense_Mutation_p.L763M|WDR17_uc003ium.3_Missense_Mutation_p.L763M|WDR17_uc003iul.1_Intron|WDR17_uc003iun.2_Missense_Mutation_p.L6M	p.L787M	NM_170710	NP_733828	Q8IZU2	WDR17_HUMAN		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)	17	2515	+		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)	787					E7EQX0|Q0QD35	Missense_Mutation	SNP	ENST00000280190.4	37	c.2359C>A	CCDS3825.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.59|17.59	3.428242|3.428242	0.62844|0.62844	.|.	.|.	ENSG00000150627|ENSG00000150627	ENST00000508596;ENST00000393643;ENST00000280190;ENST00000507824|ENST00000443118	T;T;T|.	0.62232|.	0.08;0.1;0.04|.	5.82|5.82	5.82|5.82	0.92795|0.92795	.|.	0.000000|.	0.64402|.	D|.	0.000003|.	T|T	0.73690|0.73690	0.3619|0.3619	M|M	0.73598|0.73598	2.24|2.24	0.54753|0.54753	D|D	0.999985|0.999985	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.91635|.	0.999;0.998;0.998|.	T|T	0.73282|0.73282	-0.4032|-0.4032	10|5	0.72032|.	D|.	0.01|.	-9.0514|-9.0514	13.3158|13.3158	0.60407|0.60407	0.0:0.9281:0.0:0.0719|0.0:0.9281:0.0:0.0719	.|.	763;763;787|.	E7EP77;E7EQX0;Q8IZU2|.	.;.;WDR17_HUMAN|.	M|Y	763;763;787;770|29	ENSP00000422763:L763M;ENSP00000377258:L763M;ENSP00000280190:L787M|.	ENSP00000280190:L787M|.	L|S	+|+	1|2	2|0	WDR17|WDR17	177308721|177308721	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.964000|0.964000	0.63967|0.63967	3.560000|3.560000	0.53763|0.53763	2.760000|2.760000	0.94817|0.94817	0.655000|0.655000	0.94253|0.94253	CTG|TCT		0.303	WDR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362334.2			10	55	1	0	5.16669e-11	0.000978	6.48406e-11	10	55				
ASB5	140458	broad.mit.edu	37	4	177190244	177190244	+	Missense_Mutation	SNP	C	C	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr4:177190244C>T	ENST00000296525.3	-	1	129	c.16G>A	c.(16-18)Gaa>Aaa	p.E6K		NM_080874.3	NP_543150.1	Q8WWX0	ASB5_HUMAN	ankyrin repeat and SOCS box containing 5	6					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)					endometrium(2)|kidney(1)|large_intestine(9)|lung(18)|prostate(2)|skin(2)	34		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.13e-20)|Epithelial(43;9.94e-18)|OV - Ovarian serous cystadenocarcinoma(60;2e-09)|GBM - Glioblastoma multiforme(59;0.000254)|STAD - Stomach adenocarcinoma(60;0.000653)|LUSC - Lung squamous cell carcinoma(193;0.0393)		GGCCGATTTTCTTCTAACACC	0.453																																							uc003iuq.1		NA																	0				skin(2)	2						c.(16-18)GAA>AAA		ankyrin repeat and SOCS box-containing protein							75.0	72.0	73.0					4																	177190244		2203	4300	6503	SO:0001583	missense	140458				intracellular signal transduction			g.chr4:177190244C>T	AY057053	CCDS3827.1	4q34.1	2013-01-10	2011-01-25		ENSG00000164122	ENSG00000164122		"""Ankyrin repeat domain containing"""	17180	protein-coding gene	gene with protein product		615050	"""ankyrin repeat and SOCS box-containing 5"""				Standard	NM_080874		Approved		uc003iuq.2	Q8WWX0	OTTHUMG00000160793	ENST00000296525.3:c.16G>A	4.37:g.177190244C>T	ENSP00000296525:p.Glu6Lys						p.E6K	NM_080874	NP_543150	Q8WWX0	ASB5_HUMAN		all cancers(43;2.13e-20)|Epithelial(43;9.94e-18)|OV - Ovarian serous cystadenocarcinoma(60;2e-09)|GBM - Glioblastoma multiforme(59;0.000254)|STAD - Stomach adenocarcinoma(60;0.000653)|LUSC - Lung squamous cell carcinoma(193;0.0393)	1	32	-		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)	6					Q8N7B5	Missense_Mutation	SNP	ENST00000296525.3	37	c.16G>A	CCDS3827.1	.	.	.	.	.	.	.	.	.	.	C	17.60	3.430987	0.62844	.	.	ENSG00000164122	ENST00000296525;ENST00000505299	T	0.43294	0.95	5.84	5.84	0.93424	.	0.288040	0.37761	N	0.001959	T	0.39627	0.1085	L	0.44542	1.39	0.80722	D	1	B	0.20368	0.044	B	0.18561	0.022	T	0.12553	-1.0543	10	0.22109	T	0.4	-21.7399	20.1466	0.98079	0.0:1.0:0.0:0.0	.	6	Q8WWX0	ASB5_HUMAN	K	6	ENSP00000296525:E6K	ENSP00000296525:E6K	E	-	1	0	ASB5	177427238	1.000000	0.71417	0.992000	0.48379	0.396000	0.30629	4.812000	0.62613	2.779000	0.95612	0.591000	0.81541	GAA		0.453	ASB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362344.1			10	75	0	0	0	0.000978	0	10	75				
ENPP6	133121	broad.mit.edu	37	4	185018460	185018460	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr4:185018460C>A	ENST00000296741.2	-	7	1196	c.1055G>T	c.(1054-1056)gGa>gTa	p.G352V		NM_153343.3	NP_699174.1	Q6UWR7	ENPP6_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 6	352					choline metabolic process (GO:0019695)|lipid catabolic process (GO:0016042)|lipid metabolic process (GO:0006629)	anchored component of membrane (GO:0031225)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	glycerophosphocholine cholinephosphodiesterase activity (GO:0047390)|glycerophosphodiester phosphodiesterase activity (GO:0008889)|phosphoric diester hydrolase activity (GO:0008081)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(2)	15		all_lung(41;7.99e-12)|Lung NSC(41;1.46e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;4.98e-27)|Epithelial(43;3.15e-24)|OV - Ovarian serous cystadenocarcinoma(60;4.09e-12)|Colorectal(24;3.78e-05)|STAD - Stomach adenocarcinoma(60;4.5e-05)|COAD - Colon adenocarcinoma(29;0.000154)|GBM - Glioblastoma multiforme(59;0.000167)|BRCA - Breast invasive adenocarcinoma(30;0.000378)|LUSC - Lung squamous cell carcinoma(40;0.0151)		GCCGTGCCATCCACGCTGCCA	0.567																																							uc003iwc.2		NA																	0				central_nervous_system(1)	1						c.(1054-1056)GGA>GTA		ectonucleotide pyrophosphatase/phosphodiesterase							117.0	98.0	104.0					4																	185018460		2203	4300	6503	SO:0001583	missense	133121				lipid catabolic process	extracellular region|integral to membrane|plasma membrane		g.chr4:185018460C>A	AK057370	CCDS3834.1	4q35.1	2008-02-05			ENSG00000164303	ENSG00000164303			23409	protein-coding gene	gene with protein product							Standard	NM_153343		Approved	MGC33971	uc003iwc.3	Q6UWR7	OTTHUMG00000160617	ENST00000296741.2:c.1055G>T	4.37:g.185018460C>A	ENSP00000296741:p.Gly352Val						p.G352V	NM_153343	NP_699174	Q6UWR7	ENPP6_HUMAN		all cancers(43;4.98e-27)|Epithelial(43;3.15e-24)|OV - Ovarian serous cystadenocarcinoma(60;4.09e-12)|Colorectal(24;3.78e-05)|STAD - Stomach adenocarcinoma(60;4.5e-05)|COAD - Colon adenocarcinoma(29;0.000154)|GBM - Glioblastoma multiforme(59;0.000167)|BRCA - Breast invasive adenocarcinoma(30;0.000378)|LUSC - Lung squamous cell carcinoma(40;0.0151)	7	1197	-		all_lung(41;7.99e-12)|Lung NSC(41;1.46e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)	352			Extracellular (Potential).		Q4W5Q1|Q96M57	Missense_Mutation	SNP	ENST00000296741.2	37	c.1055G>T	CCDS3834.1	.	.	.	.	.	.	.	.	.	.	C	32	5.106908	0.94292	.	.	ENSG00000164303	ENST00000296741	D	0.82255	-1.59	5.41	5.41	0.78517	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.045956	0.85682	D	0.000000	D	0.93242	0.7847	M	0.91406	3.205	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.94110	0.7370	10	0.87932	D	0	-20.6427	19.0059	0.92851	0.0:1.0:0.0:0.0	.	352	Q6UWR7	ENPP6_HUMAN	V	352	ENSP00000296741:G352V	ENSP00000296741:G352V	G	-	2	0	ENPP6	185255454	1.000000	0.71417	0.761000	0.31378	0.965000	0.64279	6.644000	0.74338	2.826000	0.97356	0.561000	0.74099	GGA		0.567	ENPP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361428.1	NM_153343		38	72	1	0	9.22156e-22	0.00361	1.34459e-21	38	72				
HELT	391723	broad.mit.edu	37	4	185941818	185941818	+	Silent	SNP	C	C	T	rs530847826		TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr4:185941818C>T	ENST00000515777.1	+	4	709	c.621C>T	c.(619-621)ccC>ccT	p.P207P	HELT_ENST00000338875.4_Silent_p.P292P|HELT_ENST00000505610.1_Silent_p.P206P			A6NFD8	HELT_HUMAN	helt bHLH transcription factor	207	Pro-rich.				central nervous system development (GO:0007417)|GABAergic neuron differentiation in basal ganglia (GO:0021858)|multicellular organism growth (GO:0035264)|multicellular organismal aging (GO:0010259)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|suckling behavior (GO:0001967)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(2)	14		all_lung(41;9.65e-12)|Lung NSC(41;1.64e-11)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;8.92e-26)|Epithelial(43;3.02e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.59e-11)|Colorectal(24;4.79e-05)|BRCA - Breast invasive adenocarcinoma(30;7.72e-05)|GBM - Glioblastoma multiforme(59;0.000274)|COAD - Colon adenocarcinoma(29;0.000362)|STAD - Stomach adenocarcinoma(60;0.000756)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)		AGCACAGCCCCTTCCTGACAC	0.736																																							uc011ckq.1		NA																	0					0						c.(874-876)CCC>CCT		HES/HEY-like transcription factor							20.0	22.0	21.0					4																	185941818		2201	4295	6496	SO:0001819	synonymous_variant	391723						DNA binding	g.chr4:185941818C>T	BC144567	CCDS75214.1, CCDS75215.1	4q35.1	2014-07-17	2011-09-12		ENSG00000187821	ENSG00000187821		"""Basic helix-loop-helix proteins"""	33783	protein-coding gene	gene with protein product	"""megane bHLH factor"", ""HES-like"""		"""Hey-like transcription factor (zebrafish)"", ""HES/HEY-like transcription factor"""			14764602, 17611227	Standard	XM_005262989		Approved	HESL, HCM1228, Mgn, bHLHb44, MEGANE	uc011ckq.2	A6NFD8	OTTHUMG00000160484	ENST00000515777.1:c.621C>T	4.37:g.185941818C>T						HELT_uc011cko.1_Silent_p.P207P|HELT_uc003ixa.3_Silent_p.P206P|HELT_uc011ckp.1_Silent_p.P150P	p.P292P	NM_001029887	NP_001025058	A6NFD8	HELT_HUMAN		all cancers(43;8.92e-26)|Epithelial(43;3.02e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.59e-11)|Colorectal(24;4.79e-05)|BRCA - Breast invasive adenocarcinoma(30;7.72e-05)|GBM - Glioblastoma multiforme(59;0.000274)|COAD - Colon adenocarcinoma(29;0.000362)|STAD - Stomach adenocarcinoma(60;0.000756)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)	4	876	+		all_lung(41;9.65e-12)|Lung NSC(41;1.64e-11)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)	292			Pro-rich.		B2RTS5|B7ZMI7|B7ZMI8	Silent	SNP	ENST00000515777.1	37	c.876C>T																																																																																					0.736	HELT-002	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000360792.1	NM_001300781		17	41	0	0	0	0.007413	0	17	41				
FAM149A	25854	broad.mit.edu	37	4	187078867	187078867	+	Silent	SNP	G	G	T	rs200596219		TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr4:187078867G>T	ENST00000356371.5	+	8	1596	c.1596G>T	c.(1594-1596)ccG>ccT	p.P532P	FAM149A_ENST00000389354.5_Silent_p.P241P|FAM149A_ENST00000514153.1_Silent_p.P241P|FAM149A_ENST00000502970.1_Silent_p.P241P|FAM149A_ENST00000503432.1_Silent_p.P241P|FAM149A_ENST00000514829.1_3'UTR|FAM149A_ENST00000227065.4_Silent_p.P241P			A5PLN7	F149A_HUMAN	family with sequence similarity 149, member A	532			P -> L (in dbSNP:rs2276922).							breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(8)|pancreas(1)|prostate(1)|skin(2)	25		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.19e-10)|BRCA - Breast invasive adenocarcinoma(30;1.22e-05)|GBM - Glioblastoma multiforme(59;0.000122)|STAD - Stomach adenocarcinoma(60;0.000288)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.166)		GTCTGAACCCGCCCCAGGTCG	0.592																																							uc003iyt.3		NA																	0				breast(1)	1						c.(721-723)CCG>CCT		hypothetical protein LOC25854							52.0	51.0	52.0					4																	187078867		2203	4300	6503	SO:0001819	synonymous_variant	25854							g.chr4:187078867G>T	AK057166	CCDS34117.1	4q35.1	2012-04-19			ENSG00000109794	ENSG00000109794			24527	protein-coding gene	gene with protein product							Standard	NM_015398		Approved	DKFZP564J102, MST119, MSTP119	uc010isl.3	A5PLN7	OTTHUMG00000160565	ENST00000356371.5:c.1596G>T	4.37:g.187078867G>T						FAM149A_uc011cla.1_Silent_p.P241P|FAM149A_uc010isj.2_Silent_p.P241P|FAM149A_uc010isk.2_RNA|FAM149A_uc003iyu.3_Silent_p.P241P|FAM149A_uc010isl.2_Silent_p.P241P|FAM149A_uc011clb.1_Silent_p.P241P	p.P241P	NM_015398	NP_056213	A5PLN7	F149A_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.19e-10)|BRCA - Breast invasive adenocarcinoma(30;1.22e-05)|GBM - Glioblastoma multiforme(59;0.000122)|STAD - Stomach adenocarcinoma(60;0.000288)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.166)	8	1302	+		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)	532					B5MDB8|Q2TAN6|Q7Z2S5|Q9Y4T9	Silent	SNP	ENST00000356371.5	37	c.723G>T																																																																																					0.592	FAM149A-201	KNOWN	basic	protein_coding	protein_coding		NM_001006655		57	21	1	0	2.23399e-28	0.00361	3.40499e-28	57	21				
TRIML1	339976	broad.mit.edu	37	4	189063430	189063430	+	Missense_Mutation	SNP	G	G	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr4:189063430G>A	ENST00000332517.3	+	3	669	c.529G>A	c.(529-531)Gtt>Att	p.V177I	RP11-366H4.3_ENST00000501322.2_RNA	NM_178556.3	NP_848651.2	Q8N9V2	TRIML_HUMAN	tripartite motif family-like 1	177					multicellular organismal development (GO:0007275)|protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		TTGTAAACAGGTTGTTGTGTC	0.433																																					Melanoma(31;213 1036 16579 23968 32372)	Melanoma(31;213 1036 16579 23968 32372)	uc003izm.1		NA																	0				ovary(1)|pancreas(1)|breast(1)|skin(1)	4						c.(529-531)GTT>ATT		tripartite motif family-like 1							62.0	58.0	60.0					4																	189063430		2203	4300	6503	SO:0001583	missense	339976				multicellular organismal development		ligase activity|zinc ion binding	g.chr4:189063430G>A	AK093499	CCDS3851.1	4q35.2	2013-01-09			ENSG00000184108	ENSG00000184108		"""RING-type (C3HC4) zinc fingers"""	26698	protein-coding gene	gene with protein product						12477932	Standard	NM_178556		Approved	FLJ36180, RNF209	uc003izm.1	Q8N9V2	OTTHUMG00000160237	ENST00000332517.3:c.529G>A	4.37:g.189063430G>A	ENSP00000327738:p.Val177Ile					TRIML1_uc003izn.1_5'Flank	p.V177I	NM_178556	NP_848651	Q8N9V2	TRIML_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)	3	644	+		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)	177					Q96BE5	Missense_Mutation	SNP	ENST00000332517.3	37	c.529G>A	CCDS3851.1	.	.	.	.	.	.	.	.	.	.	G	5.617	0.298477	0.10622	.	.	ENSG00000184108	ENST00000332517	T	0.04015	3.73	4.21	4.21	0.49690	.	0.000000	0.42821	D	0.000655	T	0.11665	0.0284	L	0.37850	1.14	0.32716	N	0.51097	D	0.58970	0.984	D	0.68192	0.956	T	0.02371	-1.1169	10	0.37606	T	0.19	-18.3873	12.368	0.55240	0.0:0.0:1.0:0.0	.	177	Q8N9V2	TRIML_HUMAN	I	177	ENSP00000327738:V177I	ENSP00000327738:V177I	V	+	1	0	TRIML1	189300424	0.261000	0.24063	0.971000	0.41717	0.298000	0.27526	0.913000	0.28611	2.626000	0.88956	0.650000	0.86243	GTT		0.433	TRIML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359813.1	NM_178556		35	13	0	0	0	0.00623	0	35	13				
PLEKHG4B	153478	broad.mit.edu	37	5	163505	163505	+	Silent	SNP	C	C	T	rs201013926		TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr5:163505C>T	ENST00000283426.6	+	11	2300	c.2250C>T	c.(2248-2250)gtC>gtT	p.V750V		NM_052909.3	NP_443141.3	Q96PX9	PKH4B_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4B	750							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		ATACTAGTGTCTTCAGCAAGG	0.567													C|||	1	0.000199681	0.0	0.0	5008	,	,		18241	0.001		0.0	False		,,,				2504	0.0						uc003jak.2		NA																	0				skin(2)	2						c.(2248-2250)GTC>GTT		pleckstrin homology domain containing, family G							68.0	81.0	76.0					5																	163505		2203	4300	6503	SO:0001819	synonymous_variant	153478				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr5:163505C>T	BC008352	CCDS34124.1	5p15.33	2013-01-11			ENSG00000153404	ENSG00000153404		"""Pleckstrin homology (PH) domain containing"""	29399	protein-coding gene	gene with protein product						11572484	Standard	NM_052909		Approved	KIAA1909	uc003jak.2	Q96PX9	OTTHUMG00000161570	ENST00000283426.6:c.2250C>T	5.37:g.163505C>T							p.V750V	NM_052909	NP_443141	Q96PX9	PKH4B_HUMAN	all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)	11	2300	+			750						Silent	SNP	ENST00000283426.6	37	c.2250C>T	CCDS34124.1																																																																																				0.567	PLEKHG4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365359.1	NM_052909		74	86	0	0	0	0.00361	0	74	86				
ZDHHC11	79844	broad.mit.edu	37	5	850634	850634	+	Silent	SNP	G	G	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr5:850634G>A	ENST00000283441.8	-	1	467	c.84C>T	c.(82-84)atC>atT	p.I28I	ZDHHC11_ENST00000424784.2_Silent_p.I28I	NM_024786.2	NP_079062.1	Q9H8X9	ZDH11_HUMAN	zinc finger, DHHC-type containing 11	28						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(10)|pancreas(1)|prostate(5)|skin(2)|urinary_tract(1)	21			Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863)			TCACTCTGGAGATGCGGGGCG	0.587																																							uc011cma.1		NA																	0				skin(1)|pancreas(1)	2						c.(82-84)ATC>ATT		zinc finger, DHHC-type containing 11							92.0	91.0	91.0					5																	850634		2203	4300	6503	SO:0001819	synonymous_variant	79844					integral to membrane	acyltransferase activity|zinc ion binding	g.chr5:850634G>A	AK023215	CCDS3857.1	5p15.2	2011-02-09			ENSG00000188818	ENSG00000188818		"""Zinc fingers, DHHC-type"""	19158	protein-coding gene	gene with protein product							Standard	NM_024786		Approved	ZNF399, FLJ13153	uc011cma.1	Q9H8X9	OTTHUMG00000090319	ENST00000283441.8:c.84C>T	5.37:g.850634G>A						ZDHHC11_uc003jbj.2_5'Flank	p.I28I	NM_024786	NP_079062	Q9H8X9	ZDH11_HUMAN	Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863)		1	468	-			28					Q6UWR9	Silent	SNP	ENST00000283441.8	37	c.84C>T	CCDS3857.1																																																																																				0.587	ZDHHC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206681.3	NM_024786		16	115	0	0	0	0.007413	0	16	115				
IRX1	79192	broad.mit.edu	37	5	3599344	3599344	+	Silent	SNP	G	G	C			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr5:3599344G>C	ENST00000302006.3	+	2	334	c.282G>C	c.(280-282)tcG>tcC	p.S94S	CTD-2012M11.3_ENST00000559410.1_RNA	NM_024337.3	NP_077313.3	P78414	IRX1_HUMAN	iroquois homeobox 1	94					proximal/distal pattern formation involved in metanephric nephron development (GO:0072272)|regulation of transcription, DNA-templated (GO:0006355)|specification of loop of Henle identity (GO:0072086)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)	p.S94S(1)		biliary_tract(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|prostate(5)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						TTCAGGGCTCGCAGTATGAAC	0.607																																							uc003jde.2		NA																	1	Substitution - coding silent(1)		large_intestine(1)	ovary(1)|pancreas(1)	2						c.(280-282)TCG>TCC		iroquois homeobox protein 1							27.0	29.0	28.0					5																	3599344		2203	4299	6502	SO:0001819	synonymous_variant	79192					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr5:3599344G>C	U90307	CCDS34132.1	5p15.33	2011-12-16	2007-07-13		ENSG00000170549	ENSG00000170549		"""Homeoboxes / TALE class"""	14358	protein-coding gene	gene with protein product		606197					Standard	NM_024337		Approved	IRX-5	uc003jde.3	P78414	OTTHUMG00000161632	ENST00000302006.3:c.282G>C	5.37:g.3599344G>C							p.S94S	NM_024337	NP_077313	P78414	IRX1_HUMAN			2	334	+			94					Q7Z2F8|Q8N312	Silent	SNP	ENST00000302006.3	37	c.282G>C	CCDS34132.1																																																																																				0.607	IRX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365546.1	NM_024337		20	16	0	0	0	0.004656	0	20	16				
DNAH5	1767	broad.mit.edu	37	5	13901490	13901490	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr5:13901490C>A	ENST00000265104.4	-	14	2027	c.1923G>T	c.(1921-1923)atG>atT	p.M641I		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	641	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GGAAAAGCTGCATGGGCTGCT	0.537									Kartagener syndrome																														uc003jfd.2		NA																	0				ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31						c.(1921-1923)ATG>ATT		dynein, axonemal, heavy chain 5							63.0	60.0	61.0					5																	13901490		2203	4300	6503	SO:0001583	missense	1767	Kartagener_syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr5:13901490C>A	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.1923G>T	5.37:g.13901490C>A	ENSP00000265104:p.Met641Ile						p.M641I	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN			14	1965	-	Lung NSC(4;0.00476)		641			Stem (By similarity).		Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	ENST00000265104.4	37	c.1923G>T	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	C	18.67	3.673297	0.67928	.	.	ENSG00000039139	ENST00000265104	T	0.58358	0.34	5.55	5.55	0.83447	Dynein heavy chain, domain-1 (1);	0.076729	0.85682	D	0.000000	T	0.55146	0.1902	M	0.75150	2.29	0.80722	D	1	B	0.28128	0.201	B	0.33392	0.163	T	0.51787	-0.8661	10	0.26408	T	0.33	.	13.7549	0.62930	0.0:0.9263:0.0:0.0737	.	641	Q8TE73	DYH5_HUMAN	I	641	ENSP00000265104:M641I	ENSP00000265104:M641I	M	-	3	0	DNAH5	13954490	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	5.930000	0.70104	2.622000	0.88805	0.491000	0.48974	ATG		0.537	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		13	31	1	0	1.49906e-05	0.00245	1.66214e-05	13	31				
ANKH	56172	broad.mit.edu	37	5	14769115	14769115	+	Silent	SNP	C	C	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr5:14769115C>T	ENST00000284268.6	-	2	612	c.282G>A	c.(280-282)ggG>ggA	p.G94G		NM_054027.4	NP_473368.1	Q9HCJ1	ANKH_HUMAN	ANKH inorganic pyrophosphate transport regulator	94					locomotory behavior (GO:0007626)|regulation of bone mineralization (GO:0030500)|skeletal system development (GO:0001501)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|outer membrane (GO:0019867)|plasma membrane (GO:0005886)	inorganic diphosphate transmembrane transporter activity (GO:0030504)|inorganic phosphate transmembrane transporter activity (GO:0005315)|phosphate ion transmembrane transporter activity (GO:0015114)	p.G94G(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						CAGCGATGGCCCCTGCCACCA	0.502																																							uc003jfm.3		NA																	1	Substitution - coding silent(1)		lung(1)	upper_aerodigestive_tract(1)	1						c.(280-282)GGG>GGA		progressive ankylosis protein							88.0	83.0	85.0					5																	14769115		2203	4300	6503	SO:0001819	synonymous_variant	56172				locomotory behavior|regulation of bone mineralization|skeletal system development	integral to plasma membrane|outer membrane	inorganic diphosphate transmembrane transporter activity|inorganic phosphate transmembrane transporter activity	g.chr5:14769115C>T	AF274753	CCDS3885.1	5p15.2	2013-06-19	2013-06-19		ENSG00000154122	ENSG00000154122			15492	protein-coding gene	gene with protein product		605145	"""ankylosis, progressive (mouse) homolog"", ""craniometaphyseal dysplasia, Jackson type (dominant)"", ""ankylosis, progressive homolog (mouse)"""	CCAL2, CMDJ		10894769, 12297989, 11326338	Standard	NM_054027		Approved	HANK, ANK, CPPDD	uc003jfm.4	Q9HCJ1	OTTHUMG00000090539	ENST00000284268.6:c.282G>A	5.37:g.14769115C>T							p.G94G	NM_054027	NP_473368	Q9HCJ1	ANKH_HUMAN			2	613	-			94			Helical; (Potential).		B2RCA7|B3KMG4|D3DTD4|Q9NQW2	Silent	SNP	ENST00000284268.6	37	c.282G>A	CCDS3885.1																																																																																				0.502	ANKH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207063.1	NM_054027		9	67	0	0	0	0.004007	0	9	67				
ANKH	56172	broad.mit.edu	37	5	14769157	14769157	+	Missense_Mutation	SNP	C	C	G			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr5:14769157C>G	ENST00000284268.6	-	2	570	c.240G>C	c.(238-240)aaG>aaC	p.K80N		NM_054027.4	NP_473368.1	Q9HCJ1	ANKH_HUMAN	ANKH inorganic pyrophosphate transport regulator	80					locomotory behavior (GO:0007626)|regulation of bone mineralization (GO:0030500)|skeletal system development (GO:0001501)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|outer membrane (GO:0019867)|plasma membrane (GO:0005886)	inorganic diphosphate transmembrane transporter activity (GO:0030504)|inorganic phosphate transmembrane transporter activity (GO:0005315)|phosphate ion transmembrane transporter activity (GO:0015114)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						TCCTGTCTCTCTTGCTGTTCA	0.572																																							uc003jfm.3		NA																	0				upper_aerodigestive_tract(1)	1						c.(238-240)AAG>AAC		progressive ankylosis protein							91.0	82.0	85.0					5																	14769157		2203	4300	6503	SO:0001583	missense	56172				locomotory behavior|regulation of bone mineralization|skeletal system development	integral to plasma membrane|outer membrane	inorganic diphosphate transmembrane transporter activity|inorganic phosphate transmembrane transporter activity	g.chr5:14769157C>G	AF274753	CCDS3885.1	5p15.2	2013-06-19	2013-06-19		ENSG00000154122	ENSG00000154122			15492	protein-coding gene	gene with protein product		605145	"""ankylosis, progressive (mouse) homolog"", ""craniometaphyseal dysplasia, Jackson type (dominant)"", ""ankylosis, progressive homolog (mouse)"""	CCAL2, CMDJ		10894769, 12297989, 11326338	Standard	NM_054027		Approved	HANK, ANK, CPPDD	uc003jfm.4	Q9HCJ1	OTTHUMG00000090539	ENST00000284268.6:c.240G>C	5.37:g.14769157C>G	ENSP00000284268:p.Lys80Asn						p.K80N	NM_054027	NP_473368	Q9HCJ1	ANKH_HUMAN			2	571	-			80			Cytoplasmic (Potential).		B2RCA7|B3KMG4|D3DTD4|Q9NQW2	Missense_Mutation	SNP	ENST00000284268.6	37	c.240G>C	CCDS3885.1	.	.	.	.	.	.	.	.	.	.	C	18.51	3.639654	0.67244	.	.	ENSG00000154122	ENST00000284268	D	0.95918	-3.85	5.5	3.48	0.39840	.	0.048787	0.85682	D	0.000000	D	0.94483	0.8224	L	0.54323	1.7	0.80722	D	1	P	0.42078	0.77	P	0.48598	0.583	D	0.93317	0.6689	10	0.48119	T	0.1	0.2564	10.2717	0.43487	0.0:0.7912:0.0:0.2088	.	80	Q9HCJ1	ANKH_HUMAN	N	80	ENSP00000284268:K80N	ENSP00000284268:K80N	K	-	3	2	ANKH	14822157	1.000000	0.71417	0.995000	0.50966	0.990000	0.78478	1.688000	0.37690	1.332000	0.45431	0.650000	0.86243	AAG		0.572	ANKH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207063.1	NM_054027		5	51	0	0	0	0.003163	0	5	51				
ANKH	56172	broad.mit.edu	37	5	14769166	14769166	+	Silent	SNP	C	C	G			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr5:14769166C>G	ENST00000284268.6	-	2	561	c.231G>C	c.(229-231)gtG>gtC	p.V77V		NM_054027.4	NP_473368.1	Q9HCJ1	ANKH_HUMAN	ANKH inorganic pyrophosphate transport regulator	77					locomotory behavior (GO:0007626)|regulation of bone mineralization (GO:0030500)|skeletal system development (GO:0001501)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|outer membrane (GO:0019867)|plasma membrane (GO:0005886)	inorganic diphosphate transmembrane transporter activity (GO:0030504)|inorganic phosphate transmembrane transporter activity (GO:0005315)|phosphate ion transmembrane transporter activity (GO:0015114)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						TCTTGCTGTTCACAAACACCA	0.577																																							uc003jfm.3		NA																	0				upper_aerodigestive_tract(1)	1						c.(229-231)GTG>GTC		progressive ankylosis protein							88.0	80.0	82.0					5																	14769166		2203	4300	6503	SO:0001819	synonymous_variant	56172				locomotory behavior|regulation of bone mineralization|skeletal system development	integral to plasma membrane|outer membrane	inorganic diphosphate transmembrane transporter activity|inorganic phosphate transmembrane transporter activity	g.chr5:14769166C>G	AF274753	CCDS3885.1	5p15.2	2013-06-19	2013-06-19		ENSG00000154122	ENSG00000154122			15492	protein-coding gene	gene with protein product		605145	"""ankylosis, progressive (mouse) homolog"", ""craniometaphyseal dysplasia, Jackson type (dominant)"", ""ankylosis, progressive homolog (mouse)"""	CCAL2, CMDJ		10894769, 12297989, 11326338	Standard	NM_054027		Approved	HANK, ANK, CPPDD	uc003jfm.4	Q9HCJ1	OTTHUMG00000090539	ENST00000284268.6:c.231G>C	5.37:g.14769166C>G							p.V77V	NM_054027	NP_473368	Q9HCJ1	ANKH_HUMAN			2	562	-			77			Cytoplasmic (Potential).		B2RCA7|B3KMG4|D3DTD4|Q9NQW2	Silent	SNP	ENST00000284268.6	37	c.231G>C	CCDS3885.1																																																																																				0.577	ANKH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207063.1	NM_054027		5	49	0	0	0	0.00245	0	5	49				
ANKH	56172	broad.mit.edu	37	5	14769270	14769270	+	Missense_Mutation	SNP	C	C	G			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr5:14769270C>G	ENST00000284268.6	-	2	457	c.127G>C	c.(127-129)Gag>Cag	p.E43Q		NM_054027.4	NP_473368.1	Q9HCJ1	ANKH_HUMAN	ANKH inorganic pyrophosphate transport regulator	43					locomotory behavior (GO:0007626)|regulation of bone mineralization (GO:0030500)|skeletal system development (GO:0001501)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|outer membrane (GO:0019867)|plasma membrane (GO:0005886)	inorganic diphosphate transmembrane transporter activity (GO:0030504)|inorganic phosphate transmembrane transporter activity (GO:0005315)|phosphate ion transmembrane transporter activity (GO:0015114)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						ACTGCATCCTCCTTGACAGCA	0.522																																							uc003jfm.3		NA																	0				upper_aerodigestive_tract(1)	1						c.(127-129)GAG>CAG		progressive ankylosis protein							38.0	37.0	37.0					5																	14769270		2203	4300	6503	SO:0001583	missense	56172				locomotory behavior|regulation of bone mineralization|skeletal system development	integral to plasma membrane|outer membrane	inorganic diphosphate transmembrane transporter activity|inorganic phosphate transmembrane transporter activity	g.chr5:14769270C>G	AF274753	CCDS3885.1	5p15.2	2013-06-19	2013-06-19		ENSG00000154122	ENSG00000154122			15492	protein-coding gene	gene with protein product		605145	"""ankylosis, progressive (mouse) homolog"", ""craniometaphyseal dysplasia, Jackson type (dominant)"", ""ankylosis, progressive homolog (mouse)"""	CCAL2, CMDJ		10894769, 12297989, 11326338	Standard	NM_054027		Approved	HANK, ANK, CPPDD	uc003jfm.4	Q9HCJ1	OTTHUMG00000090539	ENST00000284268.6:c.127G>C	5.37:g.14769270C>G	ENSP00000284268:p.Glu43Gln						p.E43Q	NM_054027	NP_473368	Q9HCJ1	ANKH_HUMAN			2	458	-			43			Cytoplasmic (Potential).		B2RCA7|B3KMG4|D3DTD4|Q9NQW2	Missense_Mutation	SNP	ENST00000284268.6	37	c.127G>C	CCDS3885.1	.	.	.	.	.	.	.	.	.	.	C	26.3	4.726807	0.89390	.	.	ENSG00000154122	ENST00000284268	D	0.95918	-3.85	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	D	0.96049	0.8713	M	0.63843	1.955	0.80722	D	1	P	0.48089	0.905	P	0.50314	0.637	D	0.96137	0.9097	10	0.62326	D	0.03	-11.3037	18.6782	0.91537	0.0:1.0:0.0:0.0	.	43	Q9HCJ1	ANKH_HUMAN	Q	43	ENSP00000284268:E43Q	ENSP00000284268:E43Q	E	-	1	0	ANKH	14822270	1.000000	0.71417	0.948000	0.38648	0.973000	0.67179	5.941000	0.70195	2.648000	0.89879	0.650000	0.86243	GAG		0.522	ANKH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207063.1	NM_054027		7	26	0	0	0	0.001984	0	7	26				
CDH18	1016	broad.mit.edu	37	5	19544062	19544062	+	Missense_Mutation	SNP	T	T	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr5:19544062T>A	ENST00000507958.1	-	11	2296	c.1306A>T	c.(1306-1308)Aat>Tat	p.N436Y	CDH18_ENST00000502796.1_Missense_Mutation_p.N436Y|CDH18_ENST00000511273.1_Missense_Mutation_p.N436Y|CDH18_ENST00000382275.1_Missense_Mutation_p.N436Y|CDH18_ENST00000506372.1_Missense_Mutation_p.N436Y|CDH18_ENST00000274170.4_Missense_Mutation_p.N436Y			Q13634	CAD18_HUMAN	cadherin 18, type 2	436	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					GTCCCAGTATTGGCATCAATG	0.343																																							uc003jgc.2		NA																	0				ovary(5)|large_intestine(1)|skin(1)	7						c.(1306-1308)AAT>TAT		cadherin 18, type 2 preproprotein							124.0	118.0	120.0					5																	19544062		2203	4300	6503	SO:0001583	missense	1016				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:19544062T>A	U59325	CCDS3889.1, CCDS54835.1, CCDS75229.1	5p14.3	2010-01-26			ENSG00000145526	ENSG00000145526		"""Cadherins / Major cadherins"""	1757	protein-coding gene	gene with protein product		603019				9030594, 10191097	Standard	NM_004934		Approved	CDH14, EY-CADHERIN	uc003jgd.3	Q13634	OTTHUMG00000090578	ENST00000507958.1:c.1306A>T	5.37:g.19544062T>A	ENSP00000425093:p.Asn436Tyr					CDH18_uc003jgd.2_Missense_Mutation_p.N436Y|CDH18_uc011cnm.1_Missense_Mutation_p.N436Y	p.N436Y	NM_004934	NP_004925	Q13634	CAD18_HUMAN			8	1683	-	Lung NSC(1;0.00734)|all_lung(1;0.0197)		436			Extracellular (Potential).|Cadherin 4.		A8K0I2|B4DHG6|Q8N5Z2	Missense_Mutation	SNP	ENST00000507958.1	37	c.1306A>T	CCDS3889.1	.	.	.	.	.	.	.	.	.	.	T	14.30	2.493004	0.44352	.	.	ENSG00000145526	ENST00000382275;ENST00000507958;ENST00000542864;ENST00000274170;ENST00000506372;ENST00000502796;ENST00000515257;ENST00000511273	T;T;T;T;T;T;T	0.53423	0.62;0.62;0.62;0.62;0.62;0.62;0.62	5.27	2.78	0.32641	Cadherin (4);Cadherin-like (1);	0.243373	0.40385	N	0.001110	T	0.33962	0.0881	L	0.35487	1.065	0.42311	D	0.992216	B;B	0.06786	0.001;0.001	B;B	0.15870	0.014;0.009	T	0.08006	-1.0743	9	.	.	.	.	11.2246	0.48875	0.0:0.0:0.2924:0.7076	.	436;436	B4DHG6;Q13634	.;CAD18_HUMAN	Y	436;436;436;436;436;436;382;436	ENSP00000371710:N436Y;ENSP00000425093:N436Y;ENSP00000274170:N436Y;ENSP00000424931:N436Y;ENSP00000422138:N436Y;ENSP00000427383:N382Y;ENSP00000425854:N436Y	.	N	-	1	0	CDH18	19579819	1.000000	0.71417	0.998000	0.56505	0.973000	0.67179	3.910000	0.56371	0.296000	0.22592	0.383000	0.25322	AAT		0.343	CDH18-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366747.1	NM_004934		17	16	0	0	0	0.006122	0	17	16				
CDH9	1007	broad.mit.edu	37	5	26885762	26885762	+	Missense_Mutation	SNP	C	C	G			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr5:26885762C>G	ENST00000231021.4	-	11	2015	c.1843G>C	c.(1843-1845)Gct>Cct	p.A615P		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	615					adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						GCAACGAGAGCTCCCGTGCTC	0.507																																					Melanoma(8;187 585 15745 40864 52829)	Melanoma(8;187 585 15745 40864 52829)	uc003jgs.1		NA																	0				ovary(5)|skin(2)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1)	9						c.(1843-1845)GCT>CCT		cadherin 9, type 2 preproprotein							77.0	66.0	70.0					5																	26885762		2203	4300	6503	SO:0001583	missense	1007				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:26885762C>G	AB035302	CCDS3893.1	5p14	2010-01-26			ENSG00000113100	ENSG00000113100		"""Cadherins / Major cadherins"""	1768	protein-coding gene	gene with protein product		609974				2059658	Standard	NM_016279		Approved		uc003jgs.1	Q9ULB4	OTTHUMG00000090671	ENST00000231021.4:c.1843G>C	5.37:g.26885762C>G	ENSP00000231021:p.Ala615Pro					CDH9_uc011cnv.1_Missense_Mutation_p.A208P	p.A615P	NM_016279	NP_057363	Q9ULB4	CADH9_HUMAN			11	2012	-			615			Extracellular (Potential).		Q3B7I5	Missense_Mutation	SNP	ENST00000231021.4	37	c.1843G>C	CCDS3893.1	.	.	.	.	.	.	.	.	.	.	C	32	5.121144	0.94385	.	.	ENSG00000113100	ENST00000231021	T	0.60424	0.19	5.89	5.89	0.94794	.	0.000000	0.85682	D	0.000000	D	0.84999	0.5597	H	0.96889	3.9	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.83275	0.993;0.996	D	0.89333	0.3648	9	.	.	.	.	18.82	0.92092	0.0:1.0:0.0:0.0	.	208;615	B4DFP0;Q9ULB4	.;CADH9_HUMAN	P	615	ENSP00000231021:A615P	.	A	-	1	0	CDH9	26921519	1.000000	0.71417	0.231000	0.23993	0.971000	0.66376	7.781000	0.85668	2.797000	0.96272	0.563000	0.77884	GCT		0.507	CDH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207352.1	NM_016279		9	28	0	0	0	0.000978	0	9	28				
DROSHA	29102	broad.mit.edu	37	5	31495439	31495439	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr5:31495439C>A	ENST00000511367.2	-	11	1953	c.1709G>T	c.(1708-1710)aGa>aTa	p.R570I	DROSHA_ENST00000513349.1_Missense_Mutation_p.R533I|DROSHA_ENST00000344624.3_Missense_Mutation_p.R570I|DROSHA_ENST00000442743.1_Missense_Mutation_p.R533I	NM_013235.4	NP_037367.3	Q9NRR4	RNC_HUMAN	drosha, ribonuclease type III	570	Necessary for interaction with DGCR8 and pri-miRNA processing activity.				defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|gene expression (GO:0010467)|miRNA metabolic process (GO:0010586)|pre-miRNA processing (GO:0031054)|primary miRNA processing (GO:0031053)|ribosome biogenesis (GO:0042254)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|rRNA catabolic process (GO:0016075)	nucleoplasm (GO:0005654)	lipopolysaccharide binding (GO:0001530)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|ribonuclease III activity (GO:0004525)			breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(19)|lung(33)|ovary(2)|skin(1)	66						GTGGAAAAGTCTGCCAGCATT	0.373																																							uc003jhg.2		NA																	0					0						c.(1708-1710)AGA>ATA		ribonuclease III, nuclear isoform 1							73.0	78.0	76.0					5																	31495439		1822	4084	5906	SO:0001583	missense	29102				gene silencing by RNA|ribosome biogenesis|RNA processing	nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity	g.chr5:31495439C>A	AF116910	CCDS47194.1, CCDS47195.1	5q11.2	2010-11-17	2010-10-28	2010-10-28	ENSG00000113360	ENSG00000113360	3.1.26.3		17904	protein-coding gene	gene with protein product	"""drosha, ribonuclease type III"", ""drosha, double-stranded RNA-specific endoribonuclease"""	608828	"""ribonuclease type III, nuclear"""	RNASEN		10713462, 10948199	Standard	NM_013235		Approved	RNASE3L, Etohi2, HSA242976, RN3	uc003jhg.2	Q9NRR4	OTTHUMG00000161976	ENST00000511367.2:c.1709G>T	5.37:g.31495439C>A	ENSP00000425979:p.Arg570Ile					RNASEN_uc003jhh.2_Missense_Mutation_p.R533I|RNASEN_uc003jhi.2_Missense_Mutation_p.R533I|RNASEN_uc010iui.1_Missense_Mutation_p.R493I	p.R570I	NM_013235	NP_037367	Q9NRR4	RNC_HUMAN			11	2068	-			570			Necessary for interaction with DGCR8 and pri-miRNA processing activity.		E7EMP9|Q7Z5V2|Q86YH0|Q9NW73|Q9Y2V9|Q9Y4Y0	Missense_Mutation	SNP	ENST00000511367.2	37	c.1709G>T	CCDS47195.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.15|19.15	3.772206|3.772206	0.69992|0.69992	.|.	.|.	ENSG00000113360|ENSG00000113360	ENST00000512076|ENST00000511367;ENST00000344624;ENST00000442743;ENST00000513349;ENST00000265075;ENST00000382188	.|T;T;T;T	.|0.50001	.|1.32;1.32;0.76;0.76	5.43|5.43	5.43|5.43	0.79202|0.79202	.|.	.|0.051660	.|0.85682	.|D	.|0.000000	T|T	0.45518|0.45518	0.1346|0.1346	L|L	0.41824|0.41824	1.3|1.3	0.80722|0.80722	D|D	1|1	.|B;B;B	.|0.27117	.|0.168;0.105;0.155	.|B;B;B	.|0.28991	.|0.097;0.045;0.035	T|T	0.42015|0.42015	-0.9476|-0.9476	5|10	.|0.62326	.|D	.|0.03	-17.2896|-17.2896	19.2438|19.2438	0.93893|0.93893	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|502;533;570	.|Q9NRR4-2;E7EMP9;Q9NRR4	.|.;.;RNC_HUMAN	H|I	331|570;570;533;533;495;526	.|ENSP00000425979:R570I;ENSP00000339845:R570I;ENSP00000409335:R533I;ENSP00000424161:R533I	.|ENSP00000265075:R495I	Q|R	-|-	3|2	2|0	DROSHA|DROSHA	31531196|31531196	1.000000|1.000000	0.71417|0.71417	0.898000|0.898000	0.35279|0.35279	0.983000|0.983000	0.72400|0.72400	4.598000|4.598000	0.61069|0.61069	2.547000|2.547000	0.85894|0.85894	0.655000|0.655000	0.94253|0.94253	CAG|AGA		0.373	DROSHA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366561.3	NM_013235		26	13	1	0	7.61165e-28	0.003755	1.1584e-27	26	13				
ADAMTS12	81792	broad.mit.edu	37	5	33891862	33891862	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr5:33891862G>T	ENST00000504830.1	-	1	435	c.100C>A	c.(100-102)Ccg>Acg	p.P34T	ADAMTS12_ENST00000515401.1_Missense_Mutation_p.P34T|ADAMTS12_ENST00000352040.3_Missense_Mutation_p.P34T	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	34					cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of cellular response to hepatocyte growth factor stimulus (GO:2001113)|negative regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902548)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of hepatocyte growth factor receptor signaling pathway (GO:1902203)|proteoglycan catabolic process (GO:0030167)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of endothelial tube morphogenesis (GO:1901509)|regulation of inflammatory response (GO:0050727)	extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						AAGCGAACCGGGCCTGGCTGA	0.527										HNSCC(64;0.19)																													uc003jia.1		NA																	0				ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)	9						c.(100-102)CCG>ACG		ADAM metallopeptidase with thrombospondin type 1							110.0	120.0	117.0					5																	33891862		2203	4300	6503	SO:0001583	missense	81792				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:33891862G>T	AJ250725	CCDS34140.1	5q35	2008-07-18	2005-08-19		ENSG00000151388	ENSG00000151388		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	14605	protein-coding gene	gene with protein product		606184	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12"""			11279086	Standard	NM_030955		Approved		uc003jia.1	P58397	OTTHUMG00000162088	ENST00000504830.1:c.100C>A	5.37:g.33891862G>T	ENSP00000422554:p.Pro34Thr	HNSCC(64;0.19)				ADAMTS12_uc010iuq.1_Missense_Mutation_p.P34T|ADAMTS12_uc003jib.1_Missense_Mutation_p.P34T	p.P34T	NM_030955	NP_112217	P58397	ATS12_HUMAN			1	263	-			34					A2RRN9|A5D6V6|Q6UWL3	Missense_Mutation	SNP	ENST00000504830.1	37	c.100C>A	CCDS34140.1	.	.	.	.	.	.	.	.	.	.	G	1.078	-0.667701	0.03428	.	.	ENSG00000151388	ENST00000504830;ENST00000352040;ENST00000515401	T;T;T	0.57907	0.37;0.38;2.95	5.61	3.4	0.38934	.	0.483859	0.17622	N	0.167684	T	0.34395	0.0896	N	0.19112	0.55	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.002;0.002;0.001	T	0.24083	-1.0170	10	0.62326	D	0.03	.	6.9092	0.24325	0.0:0.202:0.3525:0.4455	.	34;34;34	P58397-3;D6REX0;P58397	.;.;ATS12_HUMAN	T	34	ENSP00000422554:P34T;ENSP00000344847:P34T;ENSP00000421638:P34T	ENSP00000344847:P34T	P	-	1	0	ADAMTS12	33927619	0.953000	0.32496	0.105000	0.21289	0.244000	0.25665	1.499000	0.35671	1.277000	0.44412	0.585000	0.79938	CCG		0.527	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367164.2	NM_030955		77	48	1	0	9.37156e-40	0.00361	1.48912e-39	77	48				
MROH2B	133558	broad.mit.edu	37	5	41070950	41070950	+	Missense_Mutation	SNP	G	G	C			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr5:41070950G>C	ENST00000399564.4	-	1	455	c.5C>G	c.(4-6)aCa>aGa	p.T2R		NM_173489.4	NP_775760.3	Q7Z745	MRO2B_HUMAN	maestro heat-like repeat family member 2B	2																	TGTACTAAGTGTCATGTCTTG	0.388																																							uc003jmj.3		NA																	0				ovary(6)|central_nervous_system(2)	8						c.(4-6)ACA>AGA		HEAT repeat family member 7B2							93.0	87.0	89.0					5																	41070950		1899	4108	6007	SO:0001583	missense	133558						binding	g.chr5:41070950G>C		CCDS47202.1	5p13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000171495	ENSG00000171495		"""maestro heat-like repeat containing"""	26857	protein-coding gene	gene with protein product			"""HEAT repeat family member 7B2"""	HEATR7B2		12477932	Standard	NM_173489		Approved	DKFZp781F0822, FLJ40243	uc003jmj.4	Q7Z745	OTTHUMG00000162151	ENST00000399564.4:c.5C>G	5.37:g.41070950G>C	ENSP00000382476:p.Thr2Arg						p.T2R	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN			1	495	-			2					Q68DM1|Q7Z4U4|Q8N7X3	Missense_Mutation	SNP	ENST00000399564.4	37	c.5C>G	CCDS47202.1	.	.	.	.	.	.	.	.	.	.	G	5.234	0.228573	0.09916	.	.	ENSG00000171495	ENST00000399564	T	0.01203	5.18	5.4	4.52	0.55395	.	.	.	.	.	T	0.01320	0.0043	N	0.14661	0.345	0.09310	N	1	P	0.36837	0.571	B	0.40228	0.323	T	0.54675	-0.8258	9	0.72032	D	0.01	.	11.9607	0.53007	0.0:0.1742:0.8258:0.0	.	2	Q7Z745	HTRB2_HUMAN	R	2	ENSP00000382476:T2R	ENSP00000382476:T2R	T	-	2	0	HEATR7B2	41106707	0.171000	0.23029	0.245000	0.24217	0.070000	0.16714	1.879000	0.39618	1.498000	0.48600	0.655000	0.94253	ACA		0.388	MROH2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367558.2	NM_173489		3	5	0	0	0	0.009096	0	3	5				
UTP15	84135	broad.mit.edu	37	5	72873801	72873801	+	Missense_Mutation	SNP	A	A	G			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr5:72873801A>G	ENST00000296792.4	+	9	1270	c.1015A>G	c.(1015-1017)Att>Gtt	p.I339V	UTP15_ENST00000508491.1_Missense_Mutation_p.I320V|UTP15_ENST00000543251.1_Missense_Mutation_p.I149V	NM_001284431.1|NM_032175.2	NP_001271360.1|NP_115551.2	Q8TED0	UTP15_HUMAN	UTP15, U3 small nucleolar ribonucleoprotein, homolog (S. cerevisiae)	339					rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(2)	15		Lung NSC(167;0.00405)|Ovarian(174;0.0129)		OV - Ovarian serous cystadenocarcinoma(47;7.76e-55)		TCGAACCTTTATTAAAGGAAA	0.378																																							uc003kcw.1		NA																	0					0						c.(1015-1017)ATT>GTT		UTP15, U3 small nucleolar ribonucleoprotein,							96.0	97.0	97.0					5																	72873801		2203	4300	6503	SO:0001583	missense	84135				rRNA processing	cytoplasm|nucleolus		g.chr5:72873801A>G	AL831972	CCDS34186.1, CCDS68893.1, CCDS68894.1	5q13.2	2013-01-10	2006-04-20		ENSG00000164338	ENSG00000164338		"""WD repeat domain containing"""	25758	protein-coding gene	gene with protein product			"""UTP15, U3 small nucleolar ribonucleoprotein, homolog (yeast)"""			12477932	Standard	NM_032175		Approved	FLJ12787, NET21, FLJ23637	uc003kcw.1	Q8TED0	OTTHUMG00000162453	ENST00000296792.4:c.1015A>G	5.37:g.72873801A>G	ENSP00000296792:p.Ile339Val					UTP15_uc011cso.1_Missense_Mutation_p.I320V|UTP15_uc011csp.1_Missense_Mutation_p.I149V|UTP15_uc010ize.1_Missense_Mutation_p.I339V	p.I339V	NM_032175	NP_115551	Q8TED0	UTP15_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;7.76e-55)	9	1238	+		Lung NSC(167;0.00405)|Ovarian(174;0.0129)	339					B4DU75|B4DXK8|Q6IA60|Q96E08|Q9H9F8	Missense_Mutation	SNP	ENST00000296792.4	37	c.1015A>G	CCDS34186.1	.	.	.	.	.	.	.	.	.	.	A	7.419	0.636287	0.14386	.	.	ENSG00000164338	ENST00000296792;ENST00000543251;ENST00000508491	T;T;T	0.54279	0.6;1.1;0.58	5.36	2.99	0.34606	.	0.275168	0.39985	N	0.001220	T	0.15219	0.0367	N	0.00750	-1.22	0.30823	N	0.73761	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.15694	-1.0428	10	0.08381	T	0.77	.	3.1397	0.06451	0.3825:0.2441:0.3734:0.0	.	320;339	B4DXK8;Q8TED0	.;UTP15_HUMAN	V	339;149;320	ENSP00000296792:I339V;ENSP00000440796:I149V;ENSP00000424609:I320V	ENSP00000296792:I339V	I	+	1	0	UTP15	72909557	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.363000	0.52321	0.880000	0.35969	0.528000	0.53228	ATT		0.378	UTP15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368965.1	NM_032175		28	21	0	0	0	0.002445	0	28	21				
OTP	23440	broad.mit.edu	37	5	76926342	76926342	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr5:76926342G>T	ENST00000306422.3	-	3	1863	c.725C>A	c.(724-726)gCg>gAg	p.A242E		NM_032109.2	NP_115485.1	Q5XKR4	OTP_HUMAN	orthopedia homeobox	242					forebrain neuron differentiation (GO:0021879)|hypothalamus cell differentiation (GO:0021979)|neurohypophysis development (GO:0021985)|positive regulation of neuroblast proliferation (GO:0002052)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)	p.A242E(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|pancreas(1)	13		all_lung(232;0.00051)|Lung NSC(167;0.000601)|Ovarian(174;0.0105)|Prostate(461;0.214)		OV - Ovarian serous cystadenocarcinoma(54;9.04e-51)|Epithelial(54;1.62e-45)|all cancers(79;4.4e-41)		CGGACCGGCCGCCAGGCTGCA	0.746																																							uc003kfg.2		NA																	1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(724-726)GCG>GAG		orthopedia homeobox							5.0	7.0	7.0					5																	76926342		2105	4182	6287	SO:0001583	missense	23440					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr5:76926342G>T		CCDS4039.1	5q14.1	2011-06-20	2007-02-15		ENSG00000171540	ENSG00000171540		"""Homeoboxes / PRD class"""	8518	protein-coding gene	gene with protein product		604529	"""orthopedia homolog (Drosophila)"""			10458915	Standard	NM_032109		Approved		uc003kfg.3	Q5XKR4	OTTHUMG00000102171	ENST00000306422.3:c.725C>A	5.37:g.76926342G>T	ENSP00000302814:p.Ala242Glu						p.A242E	NM_032109	NP_115485	Q5XKR4	OTP_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;9.04e-51)|Epithelial(54;1.62e-45)|all cancers(79;4.4e-41)	3	873	-		all_lung(232;0.00051)|Lung NSC(167;0.000601)|Ovarian(174;0.0105)|Prostate(461;0.214)	242						Missense_Mutation	SNP	ENST00000306422.3	37	c.725C>A	CCDS4039.1	.	.	.	.	.	.	.	.	.	.	G	10.65	1.410468	0.25465	.	.	ENSG00000171540	ENST00000306422	D	0.91792	-2.91	3.62	3.62	0.41486	.	0.209735	0.39020	N	0.001496	D	0.85881	0.5800	N	0.22421	0.69	0.38010	D	0.934508	P	0.40211	0.707	B	0.39094	0.29	D	0.86596	0.1863	10	0.30078	T	0.28	.	15.0674	0.72008	0.0:0.0:1.0:0.0	.	242	Q5XKR4	OTP_HUMAN	E	242	ENSP00000302814:A242E	ENSP00000302814:A242E	A	-	2	0	OTP	76962098	1.000000	0.71417	0.999000	0.59377	0.330000	0.28571	4.874000	0.63064	1.846000	0.53633	0.436000	0.28706	GCG		0.746	OTP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220016.2			9	5	1	0	1.08611e-07	0.000978	1.26254e-07	9	5				
CMYA5	202333	broad.mit.edu	37	5	79030362	79030362	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr5:79030362G>T	ENST00000446378.2	+	2	5805	c.5774G>T	c.(5773-5775)aGg>aTg	p.R1925M		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	1925					negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of protein phosphatase type 2B activity (GO:0032513)|regulation of skeletal muscle adaptation (GO:0014733)	costamere (GO:0043034)				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		AATGAGCTGAGGCCAGGGCAG	0.493																																							uc003kgc.2		NA																	0				ovary(6)|pancreas(2)|lung(1)	9						c.(5773-5775)AGG>ATG		cardiomyopathy associated 5							46.0	47.0	47.0					5																	79030362		1964	4151	6115	SO:0001583	missense	202333					perinuclear region of cytoplasm		g.chr5:79030362G>T	AW755254, AL831986	CCDS47238.1	5q14.1	2013-02-11			ENSG00000164309	ENSG00000164309		"""Tripartite motif containing / Tripartite motif containing"", ""A-kinase anchor proteins"", ""Fibronectin type III domain containing"""	14305	protein-coding gene	gene with protein product	"""genethonin-3"", ""tripartite motif-containing 76"""	612193	"""chromosome 5 open reading frame 10"""	C5orf10		14688250	Standard	NM_153610		Approved	myospryn, SPRYD2, DKFZp451G223, TRIM76	uc003kgc.3	Q8N3K9	OTTHUMG00000162548	ENST00000446378.2:c.5774G>T	5.37:g.79030362G>T	ENSP00000394770:p.Arg1925Met						p.R1925M	NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)	2	5846	+		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)	1925					A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Missense_Mutation	SNP	ENST00000446378.2	37	c.5774G>T	CCDS47238.1	.	.	.	.	.	.	.	.	.	.	G	10.18	1.278932	0.23307	.	.	ENSG00000164309	ENST00000446378	T	0.03580	3.88	5.84	2.12	0.27331	.	0.635159	0.14965	N	0.288111	T	0.01387	0.0045	N	0.01188	-0.97	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.47535	-0.9110	10	0.33940	T	0.23	.	5.7406	0.18092	0.2842:0.0:0.1609:0.5549	.	1925	Q8N3K9	CMYA5_HUMAN	M	1925	ENSP00000394770:R1925M	ENSP00000394770:R1925M	R	+	2	0	CMYA5	79066118	0.000000	0.05858	0.002000	0.10522	0.000000	0.00434	-0.078000	0.11375	0.120000	0.18254	-1.069000	0.02264	AGG		0.493	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369497.1	NM_153610		9	12	1	0	3.27435e-08	0.00245	3.86864e-08	9	12				
ANKRD34B	340120	broad.mit.edu	37	5	79855544	79855544	+	Missense_Mutation	SNP	C	C	G			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr5:79855544C>G	ENST00000338682.3	-	5	967	c.295G>C	c.(295-297)Gaa>Caa	p.E99Q		NM_001004441.2	NP_001004441.2	A5PLL1	AN34B_HUMAN	ankyrin repeat domain 34B	99						cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	28		Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;2.17e-46)|Epithelial(54;5.64e-41)|all cancers(79;3.24e-36)		GAAACAACTTCAGGGCCAGCT	0.438																																							uc010jam.2		NA																	0				pancreas(1)	1						c.(295-297)GAA>CAA		ankyrin repeat domain 34B							143.0	140.0	141.0					5																	79855544		2203	4300	6503	SO:0001583	missense	340120					cytoplasm|nucleus		g.chr5:79855544C>G		CCDS34194.1	5q14.1	2014-08-12			ENSG00000189127	ENSG00000189127		"""Ankyrin repeat domain containing"""	33736	protein-coding gene	gene with protein product							Standard	NM_001004441		Approved	DP58	uc003kgw.3	A5PLL1	OTTHUMG00000162541	ENST00000338682.3:c.295G>C	5.37:g.79855544C>G	ENSP00000339802:p.Glu99Gln					ANKRD34B_uc003kgw.2_Missense_Mutation_p.E99Q|ANKRD34B_uc010jan.2_Missense_Mutation_p.E99Q	p.E99Q	NM_001004441	NP_001004441	A5PLL1	AN34B_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.17e-46)|Epithelial(54;5.64e-41)|all cancers(79;3.24e-36)	4	645	-		Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.113)	99			ANK 3.		B2RPH1|Q68D79	Missense_Mutation	SNP	ENST00000338682.3	37	c.295G>C	CCDS34194.1	.	.	.	.	.	.	.	.	.	.	C	18.75	3.691064	0.68271	.	.	ENSG00000189127	ENST00000338682	T	0.71461	-0.57	5.78	4.9	0.64082	Ankyrin repeat-containing domain (4);	0.066997	0.56097	U	0.000032	T	0.70011	0.3175	L	0.46947	1.48	0.54753	D	0.999983	P	0.35793	0.521	B	0.41440	0.357	T	0.72673	-0.4222	10	0.72032	D	0.01	-8.7736	15.4937	0.75632	0.0:0.8609:0.1391:0.0	.	99	A5PLL1	AN34B_HUMAN	Q	99	ENSP00000339802:E99Q	ENSP00000339802:E99Q	E	-	1	0	ANKRD34B	79891300	0.994000	0.37717	0.314000	0.25224	0.828000	0.46876	3.245000	0.51407	1.402000	0.46780	0.561000	0.74099	GAA		0.438	ANKRD34B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369475.1	NM_001004441		18	96	0	0	0	0.010504	0	18	96				
VCAN	1462	broad.mit.edu	37	5	82833991	82833991	+	Missense_Mutation	SNP	G	G	C			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr5:82833991G>C	ENST00000265077.3	+	8	5734	c.5169G>C	c.(5167-5169)aaG>aaC	p.K1723N	VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000512590.2_Intron|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000342785.4_Intron|VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000343200.5_Missense_Mutation_p.K736N	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	1723	GAG-beta.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	TTGAGGAAAAGAAAAGGAAGG	0.408																																							uc003kii.3		NA																	0				ovary(7)|skin(6)|lung(2)|central_nervous_system(1)	16						c.(5167-5169)AAG>AAC		versican isoform 1 precursor							84.0	87.0	86.0					5																	82833991		2201	4300	6501	SO:0001583	missense	1462				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding	g.chr5:82833991G>C	X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	2464	protein-coding gene	gene with protein product	"""versican proteoglycan"""	118661	"""chondroitin sulfate proteoglycan 2"""	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.5169G>C	5.37:g.82833991G>C	ENSP00000265077:p.Lys1723Asn					VCAN_uc003kij.3_Missense_Mutation_p.K736N|VCAN_uc010jau.2_Intron|VCAN_uc003kik.3_Intron|VCAN_uc003kil.3_Missense_Mutation_p.K387N	p.K1723N	NM_004385	NP_004376	P13611	CSPG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	8	5525	+		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)	1723			GAG-beta.		P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Missense_Mutation	SNP	ENST00000265077.3	37	c.5169G>C	CCDS4060.1	.	.	.	.	.	.	.	.	.	.	G	12.24	1.878276	0.33162	.	.	ENSG00000038427	ENST00000265077;ENST00000343200;ENST00000513960	D;D;T	0.90261	-2.63;-2.64;2.46	5.96	-0.0549	0.13812	.	0.680537	0.14498	N	0.315960	D	0.84772	0.5546	L	0.40543	1.245	0.09310	N	1	B;B	0.26902	0.144;0.163	B;B	0.26094	0.066;0.03	T	0.73591	-0.3934	10	0.48119	T	0.1	.	10.5844	0.45273	0.4559:0.0:0.5441:0.0	.	736;1723	P13611-2;P13611	.;CSPG2_HUMAN	N	1723;736;736	ENSP00000265077:K1723N;ENSP00000340062:K736N;ENSP00000426251:K736N	ENSP00000265077:K1723N	K	+	3	2	VCAN	82869747	0.002000	0.14202	0.000000	0.03702	0.007000	0.05969	0.231000	0.17872	-0.067000	0.12976	-0.136000	0.14681	AAG		0.408	VCAN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254092.3	NM_004385		18	61	0	0	0	0.002299	0	18	61				
FAM81B	153643	broad.mit.edu	37	5	94731844	94731844	+	Silent	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr5:94731844C>A	ENST00000283357.5	+	3	304	c.258C>A	c.(256-258)acC>acA	p.T86T	FAM81B_ENST00000506418.1_3'UTR	NM_152548.2	NP_689761	Q96LP2	FA81B_HUMAN	family with sequence similarity 81, member B	86						nucleus (GO:0005634)				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_cancers(142;1.1e-06)|all_epithelial(76;1.48e-09)|all_lung(232;0.000696)|Lung NSC(167;0.000947)|Ovarian(225;0.00473)		all cancers(79;1.04e-16)		AAATGTCAACCAAGAATTCTA	0.313																																							uc003kla.1		NA																	0				ovary(1)|skin(1)	2						c.(256-258)ACC>ACA		hypothetical protein LOC153643							98.0	96.0	96.0					5																	94731844		1818	4078	5896	SO:0001819	synonymous_variant	153643							g.chr5:94731844C>A		CCDS43341.1	5q15	2008-02-05			ENSG00000153347	ENSG00000153347			26335	protein-coding gene	gene with protein product							Standard	NM_152548		Approved	FLJ25333	uc003kla.1	Q96LP2	OTTHUMG00000162837	ENST00000283357.5:c.258C>A	5.37:g.94731844C>A						FAM81B_uc010jbe.1_5'UTR	p.T86T	NM_152548	NP_689761	Q96LP2	FA81B_HUMAN		all cancers(79;1.04e-16)	3	304	+		all_cancers(142;1.1e-06)|all_epithelial(76;1.48e-09)|all_lung(232;0.000696)|Lung NSC(167;0.000947)|Ovarian(225;0.00473)	86						Silent	SNP	ENST00000283357.5	37	c.258C>A	CCDS43341.1																																																																																				0.313	FAM81B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370690.1	NM_152548		35	32	1	0	1.8453e-21	0.002522	2.68286e-21	35	32				
TTC37	9652	broad.mit.edu	37	5	94849318	94849318	+	Missense_Mutation	SNP	T	T	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr5:94849318T>A	ENST00000358746.2	-	27	3033	c.2735A>T	c.(2734-2736)gAc>gTc	p.D912V	TTC37_ENST00000515176.1_5'UTR	NM_014639.3	NP_055454.1	Q6PGP7	TTC37_HUMAN	tetratricopeptide repeat domain 37	912						cytoplasm (GO:0005737)|nucleus (GO:0005634)|Ski complex (GO:0055087)|transcriptionally active chromatin (GO:0035327)				breast(2)|endometrium(6)|kidney(3)|large_intestine(13)|liver(1)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	47						ATCCATGGTGTCATAACTTCC	0.328																																							uc003klb.2		NA																	0				ovary(3)|pancreas(1)	4						c.(2734-2736)GAC>GTC		tetratricopeptide repeat domain 37							110.0	108.0	109.0					5																	94849318		2203	4300	6503	SO:0001583	missense	9652						binding	g.chr5:94849318T>A	AB002370	CCDS4072.1	5q15	2014-09-17	2008-06-11	2008-06-11	ENSG00000198677	ENSG00000198677		"""Tetratricopeptide (TTC) repeat domain containing"""	23639	protein-coding gene	gene with protein product		614589	"""KIAA0372"""	KIAA0372		9205841	Standard	NM_014639		Approved		uc003klb.3	Q6PGP7	OTTHUMG00000121165	ENST00000358746.2:c.2735A>T	5.37:g.94849318T>A	ENSP00000351596:p.Asp912Val						p.D912V	NM_014639	NP_055454	Q6PGP7	TTC37_HUMAN			27	3005	-			912					O15077|Q6PJI3	Missense_Mutation	SNP	ENST00000358746.2	37	c.2735A>T	CCDS4072.1	.	.	.	.	.	.	.	.	.	.	T	19.72	3.880356	0.72294	.	.	ENSG00000198677	ENST00000358746	T	0.56444	0.46	5.54	5.54	0.83059	Tetratricopeptide-like helical (1);	0.099877	0.64402	D	0.000002	T	0.55721	0.1938	L	0.56769	1.78	0.80722	D	1	P	0.48998	0.918	P	0.45276	0.475	T	0.62029	-0.6940	10	0.72032	D	0.01	.	15.9616	0.79933	0.0:0.0:0.0:1.0	.	912	Q6PGP7	TTC37_HUMAN	V	912	ENSP00000351596:D912V	ENSP00000351596:D912V	D	-	2	0	TTC37	94875074	1.000000	0.71417	0.997000	0.53966	0.635000	0.38103	7.606000	0.82863	2.231000	0.72958	0.397000	0.26171	GAC		0.328	TTC37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241651.1	NM_014639		29	23	0	0	0	0.005524	0	29	23				
YTHDC2	64848	broad.mit.edu	37	5	112889304	112889304	+	Missense_Mutation	SNP	C	C	G			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr5:112889304C>G	ENST00000161863.4	+	14	2098	c.1885C>G	c.(1885-1887)Ctg>Gtg	p.L629V	YTHDC2_ENST00000515883.1_Missense_Mutation_p.L629V	NM_022828.3	NP_073739.3	Q9H6S0	YTDC2_HUMAN	YTH domain containing 2	629	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)|positive regulation by host of viral genome replication (GO:0044829)|response to interleukin-1 (GO:0070555)|response to tumor necrosis factor (GO:0034612)	endoplasmic reticulum (GO:0005783)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|RNA polymerase binding (GO:0070063)|RNA-dependent ATPase activity (GO:0008186)			NS(2)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(13)|lung(10)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43		all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594)		ACTAATTTTTCTGCCTGGATA	0.368																																							uc003kqn.2		NA																	0				skin(2)|central_nervous_system(1)	3						c.(1885-1887)CTG>GTG		YTH domain containing 2							119.0	117.0	118.0					5																	112889304		2202	4299	6501	SO:0001583	missense	64848						ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr5:112889304C>G	AK000915	CCDS4113.1	5q22.3	2008-02-05			ENSG00000047188	ENSG00000047188			24721	protein-coding gene	gene with protein product						12477932	Standard	NM_022828		Approved	FLJ2194, FLJ10053, DKFZp564A186	uc003kqn.3	Q9H6S0	OTTHUMG00000128837	ENST00000161863.4:c.1885C>G	5.37:g.112889304C>G	ENSP00000161863:p.Leu629Val					YTHDC2_uc010jce.1_Missense_Mutation_p.L629V|YTHDC2_uc010jcf.1_Missense_Mutation_p.L329V	p.L629V	NM_022828	NP_073739	Q9H6S0	YTDC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594)	14	2068	+		all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244)	629			Helicase C-terminal.		B2RP66	Missense_Mutation	SNP	ENST00000161863.4	37	c.1885C>G	CCDS4113.1	.	.	.	.	.	.	.	.	.	.	C	13.34	2.209116	0.39003	.	.	ENSG00000047188	ENST00000161863;ENST00000515883;ENST00000511372	T;T	0.70631	1.07;-0.5	5.56	3.78	0.43462	Helicase, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.75932	0.3917	M	0.83118	2.625	0.35911	D	0.831117	B	0.33345	0.409	B	0.40659	0.336	T	0.80694	-0.1268	10	0.66056	D	0.02	.	11.8229	0.52250	0.0:0.8575:0.0:0.1425	.	629	Q9H6S0	YTDC2_HUMAN	V	629;629;539	ENSP00000161863:L629V;ENSP00000423101:L629V	ENSP00000161863:L629V	L	+	1	2	YTHDC2	112917203	1.000000	0.71417	0.990000	0.47175	0.965000	0.64279	2.221000	0.42917	0.696000	0.31696	0.650000	0.86243	CTG		0.368	YTHDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250776.2	NM_022828		15	62	0	0	0	0.008871	0	15	62				
CEP120	153241	broad.mit.edu	37	5	122720712	122720712	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr5:122720712C>A	ENST00000306467.5	-	11	2000	c.1696G>T	c.(1696-1698)Ggt>Tgt	p.G566C	CEP120_ENST00000328236.5_Missense_Mutation_p.G566C|CEP120_ENST00000306481.6_Missense_Mutation_p.G540C			Q8N960	CE120_HUMAN	centrosomal protein 120kDa	566					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)|regulation of protein localization (GO:0032880)	centrosome (GO:0005813)|cytoplasm (GO:0005737)				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	29						CCATTAGAACCTAAAAAACGA	0.373																																							uc003ktk.2		NA																	0				ovary(1)	1						c.(1696-1698)GGT>TGT		coiled-coil domain containing 100							121.0	116.0	118.0					5																	122720712		2203	4300	6503	SO:0001583	missense	153241					centrosome		g.chr5:122720712C>A	AK095646	CCDS4134.2, CCDS54890.1	5q23.2	2014-02-20	2008-08-14	2008-08-14	ENSG00000168944	ENSG00000168944			26690	protein-coding gene	gene with protein product		613446	"""coiled-coil domain containing 100"""	CCDC100		17920017	Standard	NM_153223		Approved	FLJ36090	uc003ktk.3	Q8N960	OTTHUMG00000128922	ENST00000306467.5:c.1696G>T	5.37:g.122720712C>A	ENSP00000303058:p.Gly566Cys					CEP120_uc011cwq.1_Missense_Mutation_p.G375C|CEP120_uc010jcz.1_Missense_Mutation_p.G540C	p.G566C	NM_153223	NP_694955	Q8N960	CE120_HUMAN			12	1778	-			566					Q6AI52|Q6AW89|Q8IWB5|Q8N9Y0|Q8NDE8	Missense_Mutation	SNP	ENST00000306467.5	37	c.1696G>T	CCDS4134.2	.	.	.	.	.	.	.	.	.	.	C	22.1	4.243001	0.79912	.	.	ENSG00000168944	ENST00000306467;ENST00000328236;ENST00000306481;ENST00000508442	T;T;T;T	0.51574	0.7;0.7;0.7;0.7	5.62	5.62	0.85841	.	0.267967	0.37393	N	0.002113	T	0.66713	0.2817	L	0.60455	1.87	0.80722	D	1	D	0.89917	1.0	D	0.71870	0.975	T	0.65738	-0.6095	10	0.52906	T	0.07	-16.9532	19.6568	0.95845	0.0:1.0:0.0:0.0	.	566	Q8N960	CE120_HUMAN	C	566;566;540;540	ENSP00000303058:G566C;ENSP00000327504:G566C;ENSP00000307419:G540C;ENSP00000421620:G540C	ENSP00000303058:G566C	G	-	1	0	CEP120	122748611	0.997000	0.39634	1.000000	0.80357	0.998000	0.95712	3.032000	0.49736	2.656000	0.90262	0.650000	0.86243	GGT		0.373	CEP120-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250899.2	NM_153223		7	53	1	0	2.74318e-10	0.006214	3.40451e-10	7	53				
SLC12A2	6558	broad.mit.edu	37	5	127469953	127469953	+	Nonsense_Mutation	SNP	G	G	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr5:127469953G>T	ENST00000262461.2	+	6	1474	c.1285G>T	c.(1285-1287)Gag>Tag	p.E429*	SLC12A2_ENST00000343225.4_Nonsense_Mutation_p.E429*	NM_001046.2	NP_001037.1	P55011	S12A2_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 2	429					ammonium transmembrane transport (GO:0072488)|ammonium transport (GO:0015696)|branching involved in mammary gland duct morphogenesis (GO:0060444)|chloride transmembrane transport (GO:1902476)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|gamma-aminobutyric acid signaling pathway (GO:0007214)|hyperosmotic response (GO:0006972)|ion transport (GO:0006811)|mammary duct terminal end bud growth (GO:0060763)|multicellular organism growth (GO:0035264)|positive regulation of cell volume (GO:0045795)|potassium ion transport (GO:0006813)|sodium ion transport (GO:0006814)|transepithelial ammonium transport (GO:0070634)|transepithelial chloride transport (GO:0030321)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	ammonium transmembrane transporter activity (GO:0008519)|sodium:potassium:chloride symporter activity (GO:0008511)			breast(3)|endometrium(5)|kidney(5)|large_intestine(12)|lung(16)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		all_cancers(142;0.0972)|Prostate(80;0.151)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978)	Bumetanide(DB00887)|Potassium Chloride(DB00761)|Quinethazone(DB01325)	AGCTGGAATGGAGTGGGAAGC	0.343																																							uc003kus.2		NA																	0				ovary(3)	3						c.(1285-1287)GAG>TAG		solute carrier family 12	Bumetanide(DB00887)|Potassium Chloride(DB00761)						149.0	159.0	156.0					5																	127469953		2203	4300	6503	SO:0001587	stop_gained	6558				potassium ion transport|sodium ion transport|transepithelial ammonium transport|transepithelial chloride transport	integral to plasma membrane|membrane fraction	ammonia transmembrane transporter activity|sodium:potassium:chloride symporter activity	g.chr5:127469953G>T		CCDS4144.1, CCDS58965.1	5q23.3	2014-06-13	2013-07-18		ENSG00000064651	ENSG00000064651		"""Solute carriers"""	10911	protein-coding gene	gene with protein product	"""bumetanide-sensitive sodium-(potassium)-chloride cotransporter 1"", ""basolateral Na-K-Cl symporter"", ""protein phosphatase 1, regulatory subunit 141"""	600840				7629105	Standard	NM_001256461		Approved	NKCC1, BSC, BSC2, PPP1R141	uc003kus.3	P55011	OTTHUMG00000128983	ENST00000262461.2:c.1285G>T	5.37:g.127469953G>T	ENSP00000262461:p.Glu429*					SLC12A2_uc010jdf.2_RNA|SLC12A2_uc010jdg.2_Nonsense_Mutation_p.E429*	p.E429*	NM_001046	NP_001037	P55011	S12A2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978)	6	1449	+		all_cancers(142;0.0972)|Prostate(80;0.151)	429			Helical; (Potential).		Q8N713|Q8WWH7	Nonsense_Mutation	SNP	ENST00000262461.2	37	c.1285G>T	CCDS4144.1	.	.	.	.	.	.	.	.	.	.	G	39	7.426713	0.98275	.	.	ENSG00000064651	ENST00000262461;ENST00000343225	.	.	.	5.18	5.18	0.71444	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.8905	0.92399	0.0:0.0:1.0:0.0	.	.	.	.	X	429	.	ENSP00000262461:E429X	E	+	1	0	SLC12A2	127497852	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.205000	0.95048	2.707000	0.92482	0.655000	0.94253	GAG		0.343	SLC12A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250972.1	NM_001046		36	75	1	0	1.58521e-26	0.005524	2.40161e-26	36	75				
SLC12A2	6558	broad.mit.edu	37	5	127483319	127483319	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr5:127483319G>T	ENST00000262461.2	+	11	1968	c.1779G>T	c.(1777-1779)atG>atT	p.M593I	SLC12A2_ENST00000343225.4_Missense_Mutation_p.M593I	NM_001046.2	NP_001037.1	P55011	S12A2_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 2	593					ammonium transmembrane transport (GO:0072488)|ammonium transport (GO:0015696)|branching involved in mammary gland duct morphogenesis (GO:0060444)|chloride transmembrane transport (GO:1902476)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|gamma-aminobutyric acid signaling pathway (GO:0007214)|hyperosmotic response (GO:0006972)|ion transport (GO:0006811)|mammary duct terminal end bud growth (GO:0060763)|multicellular organism growth (GO:0035264)|positive regulation of cell volume (GO:0045795)|potassium ion transport (GO:0006813)|sodium ion transport (GO:0006814)|transepithelial ammonium transport (GO:0070634)|transepithelial chloride transport (GO:0030321)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	ammonium transmembrane transporter activity (GO:0008519)|sodium:potassium:chloride symporter activity (GO:0008511)			breast(3)|endometrium(5)|kidney(5)|large_intestine(12)|lung(16)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		all_cancers(142;0.0972)|Prostate(80;0.151)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978)	Bumetanide(DB00887)|Potassium Chloride(DB00761)|Quinethazone(DB01325)	TTAAGGTAATGAGTATGGTGT	0.338																																							uc003kus.2		NA																	0				ovary(3)	3						c.(1777-1779)ATG>ATT		solute carrier family 12	Bumetanide(DB00887)|Potassium Chloride(DB00761)						102.0	100.0	101.0					5																	127483319		2203	4296	6499	SO:0001583	missense	6558				potassium ion transport|sodium ion transport|transepithelial ammonium transport|transepithelial chloride transport	integral to plasma membrane|membrane fraction	ammonia transmembrane transporter activity|sodium:potassium:chloride symporter activity	g.chr5:127483319G>T		CCDS4144.1, CCDS58965.1	5q23.3	2014-06-13	2013-07-18		ENSG00000064651	ENSG00000064651		"""Solute carriers"""	10911	protein-coding gene	gene with protein product	"""bumetanide-sensitive sodium-(potassium)-chloride cotransporter 1"", ""basolateral Na-K-Cl symporter"", ""protein phosphatase 1, regulatory subunit 141"""	600840				7629105	Standard	NM_001256461		Approved	NKCC1, BSC, BSC2, PPP1R141	uc003kus.3	P55011	OTTHUMG00000128983	ENST00000262461.2:c.1779G>T	5.37:g.127483319G>T	ENSP00000262461:p.Met593Ile					SLC12A2_uc010jdf.2_RNA|SLC12A2_uc010jdg.2_Missense_Mutation_p.M593I	p.M593I	NM_001046	NP_001037	P55011	S12A2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978)	11	1943	+		all_cancers(142;0.0972)|Prostate(80;0.151)	593			Helical; (Potential).		Q8N713|Q8WWH7	Missense_Mutation	SNP	ENST00000262461.2	37	c.1779G>T	CCDS4144.1	.	.	.	.	.	.	.	.	.	.	G	17.40	3.379253	0.61735	.	.	ENSG00000064651	ENST00000262461;ENST00000343225	D;D	0.98717	-5.09;-5.09	5.06	5.06	0.68205	Amino acid permease domain (1);	0.000000	0.85682	D	0.000000	D	0.98096	0.9372	L	0.58810	1.83	0.80722	D	1	P;P	0.45957	0.841;0.869	B;P	0.48425	0.441;0.577	D	0.98237	1.0486	10	0.41790	T	0.15	.	18.6192	0.91315	0.0:0.0:1.0:0.0	.	593;593	P55011-3;P55011	.;S12A2_HUMAN	I	593	ENSP00000262461:M593I;ENSP00000340878:M593I	ENSP00000262461:M593I	M	+	3	0	SLC12A2	127511218	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	9.121000	0.94375	2.638000	0.89438	0.585000	0.79938	ATG		0.338	SLC12A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250972.1	NM_001046		10	67	1	0	0.00829132	0.008291	0.00866039	10	67				
FBN2	2201	broad.mit.edu	37	5	127800505	127800505	+	Silent	SNP	C	C	G	rs150087436	byFrequency	TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr5:127800505C>G	ENST00000508053.1	-	12	1712	c.738G>C	c.(736-738)gcG>gcC	p.A246A	FBN2_ENST00000262464.4_Silent_p.A246A|FBN2_ENST00000508989.1_Silent_p.A213A			P35556	FBN2_HUMAN	fibrillin 2	246	TB 1.				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)		GATGGCCCCACGCCCGTCCAA	0.607																																							uc003kuu.2		NA																	0				ovary(8)|large_intestine(4)|pancreas(1)|kidney(1)|skin(1)	15						c.(736-738)GCG>GCC		fibrillin 2 precursor							90.0	83.0	86.0					5																	127800505		2203	4300	6503	SO:0001819	synonymous_variant	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.chr5:127800505C>G	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.738G>C	5.37:g.127800505C>G						FBN2_uc003kuv.2_Silent_p.A213A|FBN2_uc003kuw.3_Silent_p.A246A|FBN2_uc003kux.1_Silent_p.A246A	p.A246A	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)	6	1177	-		all_cancers(142;0.0216)|Prostate(80;0.0551)	246			TB 1.		B4DU01|Q59ES6	Silent	SNP	ENST00000508053.1	37	c.738G>C	CCDS34222.1																																																																																				0.607	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2	NM_001999		14	75	0	0	0	0.004007	0	14	75				
RAPGEF6	51735	broad.mit.edu	37	5	130834300	130834300	+	Splice_Site	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr5:130834300C>A	ENST00000509018.1	-	12	1460	c.1255G>T	c.(1255-1257)Gca>Tca	p.A419S	RAPGEF6_ENST00000307984.5_Splice_Site_p.A419S|RAPGEF6_ENST00000510071.1_Splice_Site_p.A419S|RAPGEF6_ENST00000296859.6_Splice_Site_p.A419S|RAPGEF6_ENST00000507093.1_Splice_Site_p.A419S|RAPGEF6_ENST00000308008.6_Splice_Site_p.A419S|RAPGEF6_ENST00000512052.1_Splice_Site_p.A134S|CTC-432M15.3_ENST00000514667.1_Splice_Site_p.A469S	NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	Q8TEU7	RPGF6_HUMAN	Rap guanine nucleotide exchange factor (GEF) 6	419	N-terminal Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00135}.				positive regulation of GTPase activity (GO:0043547)|Ras protein signal transduction (GO:0007265)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	GTP-dependent protein binding (GO:0030742)|guanyl-nucleotide exchange factor activity (GO:0005085)|Ras GTPase binding (GO:0017016)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		TCAGGTGTTGCCTAAAAATCC	0.348																																					Melanoma(168;435 1955 13113 13877 23213)	Melanoma(168;435 1955 13113 13877 23213)	uc003kvn.1		NA																	0				ovary(1)|lung(1)|central_nervous_system(1)	3						c.(1255-1257)GCA>TCA		PDZ domain-containing guanine nucleotide							61.0	65.0	64.0					5																	130834300		2203	4300	6503	SO:0001630	splice_region_variant	51735				Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction	cytoplasm|plasma membrane	GTP-dependent protein binding|guanyl-nucleotide exchange factor activity|Ras GTPase binding	g.chr5:130834300C>A	AF117947	CCDS34225.1, CCDS54897.1, CCDS54898.1, CCDS54899.1, CCDS54900.1	5q31.1	2008-02-05	2004-03-01	2004-03-02	ENSG00000158987	ENSG00000158987			20655	protein-coding gene	gene with protein product		610499	"""PDZ domain containing guanine nucleotide exchange factor (GEF) 2"""	PDZGEF2		11524421, 12095257	Standard	NM_016340		Approved	RA-GEF-2, PDZ-GEF2	uc010jdi.2	Q8TEU7	OTTHUMG00000162683	ENST00000509018.1:c.1255-1G>T	5.37:g.130834300C>A						RAPGEF6_uc003kvp.1_Missense_Mutation_p.A469S|RAPGEF6_uc003kvo.1_Missense_Mutation_p.A419S|RAPGEF6_uc010jdi.1_Missense_Mutation_p.A419S|RAPGEF6_uc010jdj.1_Missense_Mutation_p.A419S|RAPGEF6_uc003kvq.2_Missense_Mutation_p.A136S|RAPGEF6_uc003kvr.2_Missense_Mutation_p.A419S|RAPGEF6_uc011cxe.1_RNA|RAPGEF6_uc010jdk.2_Missense_Mutation_p.A419S	p.A419S	NM_016340	NP_057424	Q8TEU7	RPGF6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)	12	1461	-			419			N-terminal Ras-GEF.		A3KN82|A5PLL6|B7ZML2|E9PDV7|Q8NI21|Q8TEU6|Q96PC1	Missense_Mutation	SNP	ENST00000509018.1	37	c.1255G>T	CCDS34225.1	.	.	.	.	.	.	.	.	.	.	C	27.0	4.786497	0.90367	.	.	ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000217128	ENST00000509018;ENST00000307984;ENST00000507093;ENST00000296859;ENST00000358714;ENST00000512052;ENST00000308008;ENST00000510071;ENST00000514667	T;T;T;T;T;T;T;T	0.56941	0.43;0.43;0.43;0.43;0.43;0.43;0.43;0.43	5.46	5.46	0.80206	Ras guanine nucleotide exchange factor, domain (1);Ras-like guanine nucleotide exchange factor, N-terminal (3);	0.136711	0.50627	D	0.000119	T	0.60261	0.2255	L	0.52905	1.665	0.80722	D	1	B;B;P;P;B;B;B	0.48911	0.184;0.096;0.917;0.727;0.45;0.153;0.097	B;B;P;P;B;B;B	0.48873	0.259;0.202;0.539;0.593;0.37;0.168;0.347	T	0.64149	-0.6475	10	0.72032	D	0.01	.	19.3031	0.94150	0.0:1.0:0.0:0.0	.	419;419;419;134;469;419;419	A3KN82;B7ZML2;Q8TEU7-2;D6RE77;E9PCH4;Q8TEU7-3;Q8TEU7	.;.;.;.;.;.;RPGF6_HUMAN	S	419;419;419;419;419;134;419;419;469	ENSP00000421684:A419S;ENSP00000309298:A419S;ENSP00000426081:A419S;ENSP00000296859:A419S;ENSP00000426910:A134S;ENSP00000311419:A419S;ENSP00000425389:A419S;ENSP00000426948:A469S	ENSP00000426948:A469S	A	-	1	0	RAPGEF6;FNIP1	130862199	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	7.484000	0.81180	2.524000	0.85096	0.655000	0.94253	GCA		0.348	RAPGEF6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000370059.1	NM_016340	Missense_Mutation	23	16	1	0	1.08312e-15	0.009535	1.46694e-15	23	16				
CAMLG	819	broad.mit.edu	37	5	134077174	134077174	+	Silent	SNP	T	T	C	rs377451121		TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr5:134077174T>C	ENST00000297156.2	+	2	714	c.594T>C	c.(592-594)ctT>ctC	p.L198L	CAMLG_ENST00000514518.1_Intron	NM_001745.3	NP_001736.1	P49069	CAMLG_HUMAN	calcium modulating ligand	198					defense response (GO:0006952)|epidermal growth factor receptor signaling pathway (GO:0007173)|receptor recycling (GO:0001881)|signal transduction (GO:0007165)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				NS(1)|cervix(1)|kidney(3)|lung(3)|prostate(1)	9			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		Cyclosporine(DB00091)	GATGTGCTCTTCTTGCTCTTG	0.323																																							uc003kzt.2		NA																	0					0						c.(592-594)CTT>CTC		calcium modulating ligand	Cyclosporine(DB00091)						125.0	128.0	127.0					5																	134077174		2203	4300	6503	SO:0001819	synonymous_variant	819				defense response	endoplasmic reticulum|integral to membrane		g.chr5:134077174T>C	AF068179.1	CCDS4178.1	5q23	2008-07-18			ENSG00000164615	ENSG00000164615			1471	protein-coding gene	gene with protein product	"""calcium-modulating cyclophilin ligand"", ""calcium-signal modulating cyclophilin ligand"", ""cyclophilin B-binding protein"""	601118				8824814	Standard	NM_001745		Approved	CAML	uc003kzt.3	P49069	OTTHUMG00000129116	ENST00000297156.2:c.594T>C	5.37:g.134077174T>C						CAMLG_uc003kzu.2_Intron	p.L198L	NM_001745	NP_001736	P49069	CAMLG_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		2	699	+			198			Helical; (Potential).		A1L3Y3	Silent	SNP	ENST00000297156.2	37	c.594T>C	CCDS4178.1																																																																																				0.323	CAMLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251161.1	NM_001745		17	82	0	0	0	0.008871	0	17	82				
PITX1	5307	broad.mit.edu	37	5	134364727	134364727	+	Missense_Mutation	SNP	C	C	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr5:134364727C>T	ENST00000265340.7	-	3	1103	c.687G>A	c.(685-687)atG>atA	p.M229I	PITX1_ENST00000506438.1_Missense_Mutation_p.M229I	NM_002653.4	NP_002644.4	P78337	PITX1_HUMAN	paired-like homeodomain 1	229	Interacts with PIT-1. {ECO:0000250}.				anatomical structure morphogenesis (GO:0009653)|branchiomeric skeletal muscle development (GO:0014707)|cartilage development (GO:0051216)|embryonic hindlimb morphogenesis (GO:0035116)|myoblast fate commitment (GO:0048625)|pituitary gland development (GO:0021983)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)			central_nervous_system(1)|cervix(3)|endometrium(3)|large_intestine(1)|lung(5)|ovary(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)	READ - Rectum adenocarcinoma(2;0.0607)		CGCCTGGGCCCATGCTGGACG	0.627																																							uc010jea.2		NA																	0				ovary(1)	1						c.(685-687)ATG>ATA		paired-like homeodomain transcription factor 1							77.0	77.0	77.0					5																	134364727		2203	4300	6503	SO:0001583	missense	5307					nucleolus	sequence-specific DNA binding	g.chr5:134364727C>T	AF009648	CCDS4182.1	5q31.1	2011-06-20	2007-07-12		ENSG00000069011	ENSG00000069011		"""Homeoboxes / PRD class"""	9004	protein-coding gene	gene with protein product		602149	"""paired-like homeodomain transcription factor 1"""	BFT		9337397, 9070926	Standard	NM_002653		Approved	PTX1, POTX	uc010jea.3	P78337	OTTHUMG00000149983	ENST00000265340.7:c.687G>A	5.37:g.134364727C>T	ENSP00000265340:p.Met229Ile					PITX1_uc011cxy.1_Missense_Mutation_p.M229I	p.M229I	NM_002653	NP_002644	P78337	PITX1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)	READ - Rectum adenocarcinoma(2;0.0607)	3	1080	-			229			Interacts with PIT-1 (By similarity).		A8K3M0|D3DQB0|O14677|O60425|Q9BTI5	Missense_Mutation	SNP	ENST00000265340.7	37	c.687G>A	CCDS4182.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.507134	0.85282	.	.	ENSG00000069011	ENST00000265340;ENST00000506438	D;D	0.90563	-2.69;-2.69	4.39	4.39	0.52855	.	0.077979	0.85682	D	0.000000	D	0.93086	0.7799	M	0.80422	2.495	0.80722	D	1	P	0.41159	0.74	P	0.48425	0.577	D	0.93747	0.7055	10	0.52906	T	0.07	.	15.952	0.79846	0.0:1.0:0.0:0.0	.	229	P78337	PITX1_HUMAN	I	229	ENSP00000265340:M229I;ENSP00000427542:M229I	ENSP00000265340:M229I	M	-	3	0	PITX1	134392626	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	7.648000	0.83479	1.991000	0.58162	0.462000	0.41574	ATG		0.627	PITX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251195.3			39	20	0	0	0	0.00361	0	39	20				
FAM53C	51307	broad.mit.edu	37	5	137681183	137681183	+	Missense_Mutation	SNP	C	C	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr5:137681183C>T	ENST00000239906.5	+	4	1234	c.806C>T	c.(805-807)cCc>cTc	p.P269L	FAM53C_ENST00000434981.2_Missense_Mutation_p.P269L|RP11-256P1.1_ENST00000504539.1_RNA|FAM53C_ENST00000513056.1_Missense_Mutation_p.P79S	NM_016605.2	NP_057689.1	Q9NYF3	FA53C_HUMAN	family with sequence similarity 53, member C	269										breast(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			CGCAACCTTCCCCGAAGCCGC	0.667																																							uc003lcv.2		NA																	0				ovary(1)	1						c.(805-807)CCC>CTC		hypothetical protein LOC51307							46.0	55.0	52.0					5																	137681183		2203	4300	6503	SO:0001583	missense	51307							g.chr5:137681183C>T	AF251040	CCDS4204.1	5q31	2008-02-05	2004-11-24	2004-11-26	ENSG00000120709	ENSG00000120709			1336	protein-coding gene	gene with protein product		609372	"""chromosome 5 open reading frame 6"""	C5orf6		11087669, 11161817	Standard	NM_001135647		Approved		uc003lcv.3	Q9NYF3	OTTHUMG00000129201	ENST00000239906.5:c.806C>T	5.37:g.137681183C>T	ENSP00000239906:p.Pro269Leu					FAM53C_uc003lcw.2_Missense_Mutation_p.P269L|FAM53C_uc011cyq.1_RNA|FAM53C_uc011cyr.1_Missense_Mutation_p.P85S	p.P269L	NM_001135647	NP_001129119	Q9NYF3	FA53C_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)		4	1276	+			269					B2RDJ5|D3DQB9	Missense_Mutation	SNP	ENST00000239906.5	37	c.806C>T	CCDS4204.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.66|13.66	2.303843|2.303843	0.40795|0.40795	.|.	.|.	ENSG00000120709|ENSG00000120709	ENST00000434981;ENST00000239906|ENST00000513056	T;T|T	0.39592|0.52983	1.07;1.07|0.64	5.55|5.55	4.69|4.69	0.59074|0.59074	.|.	0.052144|0.052144	0.85682|0.85682	N|D	0.000000|0.000000	T|T	0.32763|0.32763	0.0840|0.0840	N|N	0.13198|0.13198	0.31|0.31	0.33298|0.33298	D|D	0.564431|0.564431	B|B	0.10296|0.17667	0.003|0.023	B|B	0.16289|0.18561	0.015|0.022	T|T	0.45116|0.45116	-0.9283|-0.9283	10|10	0.02654|0.87932	T|D	1|0	-11.9461|-11.9461	13.2047|13.2047	0.59788|0.59788	0.0:0.923:0.0:0.077|0.0:0.923:0.0:0.077	.|.	269|79	Q9NYF3|D6RE00	FA53C_HUMAN|.	L|S	269|79	ENSP00000403705:P269L;ENSP00000239906:P269L|ENSP00000425154:P79S	ENSP00000239906:P269L|ENSP00000425154:P79S	P|P	+|+	2|1	0|0	FAM53C|FAM53C	137709082|137709082	0.240000|0.240000	0.23847|0.23847	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	2.664000|2.664000	0.46783|0.46783	1.590000|1.590000	0.49995|0.49995	0.655000|0.655000	0.94253|0.94253	CCC|CCC		0.667	FAM53C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251278.2	NM_016605		18	60	0	0	0	0.001882	0	18	60				
KDM3B	51780	broad.mit.edu	37	5	137727918	137727918	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr5:137727918C>A	ENST00000314358.5	+	8	2797	c.2597C>A	c.(2596-2598)cCc>cAc	p.P866H	KDM3B_ENST00000542866.1_Intron|KDM3B_ENST00000394866.1_Missense_Mutation_p.P522H	NM_016604.3	NP_057688	Q7LBC6	KDM3B_HUMAN	lysine (K)-specific demethylase 3B	866					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						AAGCAGGCCCCCAAGGGCCGG	0.607																																							uc003lcy.1		NA																	0				ovary(3)|upper_aerodigestive_tract(2)|lung(2)|kidney(2)|central_nervous_system(1)|skin(1)	11						c.(2596-2598)CCC>CAC		jumonji domain containing 1B							31.0	37.0	35.0					5																	137727918		2197	4300	6497	SO:0001583	missense	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.chr5:137727918C>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.2597C>A	5.37:g.137727918C>A	ENSP00000326563:p.Pro866His					KDM3B_uc010jew.1_Missense_Mutation_p.P522H|KDM3B_uc011cys.1_Intron	p.P866H	NM_016604	NP_057688	Q7LBC6	KDM3B_HUMAN			8	2797	+			866					A6H8X7|Q9BVH6|Q9BW93|Q9BZ52|Q9NYF4|Q9UPS0	Missense_Mutation	SNP	ENST00000314358.5	37	c.2597C>A	CCDS34242.1	.	.	.	.	.	.	.	.	.	.	C	18.04	3.535329	0.64972	.	.	ENSG00000120733	ENST00000314358;ENST00000545151;ENST00000394866	T;T	0.70399	0.11;-0.48	5.97	5.97	0.96955	.	0.188321	0.47455	D	0.000224	T	0.69278	0.3093	N	0.22421	0.69	0.80722	D	1	P;P	0.51653	0.924;0.947	P;P	0.50192	0.634;0.527	T	0.70160	-0.4948	10	0.49607	T	0.09	-10.1604	20.4062	0.99009	0.0:1.0:0.0:0.0	.	522;866	Q7LBC6-2;Q7LBC6	.;KDM3B_HUMAN	H	866;656;522	ENSP00000326563:P866H;ENSP00000378335:P522H	ENSP00000326563:P866H	P	+	2	0	KDM3B	137755817	0.996000	0.38824	0.983000	0.44433	0.991000	0.79684	3.904000	0.56325	2.831000	0.97527	0.655000	0.94253	CCC		0.607	KDM3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373597.1	NM_016604		17	32	1	0	3.62473e-10	0.001882	4.47657e-10	17	32				
CTNNA1	1495	broad.mit.edu	37	5	138269493	138269493	+	Silent	SNP	G	G	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr5:138269493G>A	ENST00000302763.7	+	18	2526	c.2436G>A	c.(2434-2436)gtG>gtA	p.V812V	CTNNA1_ENST00000518825.1_Nonsense_Mutation_p.W836*|CTNNA1_ENST00000355078.5_Silent_p.V709V|CTNNA1_ENST00000540387.1_Silent_p.V442V	NM_001903.2	NP_001894.2	P35221	CTNA1_HUMAN	catenin (cadherin-associated protein), alpha 1, 102kDa	812					adherens junction organization (GO:0034332)|aging (GO:0007568)|apical junction assembly (GO:0043297)|axon regeneration (GO:0031103)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular protein localization (GO:0034613)|cellular response to indole-3-methanol (GO:0071681)|epithelial cell-cell adhesion (GO:0090136)|establishment or maintenance of cell polarity (GO:0007163)|gap junction assembly (GO:0016264)|male gonad development (GO:0008584)|muscle cell differentiation (GO:0042692)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell motility (GO:2000146)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of integrin-mediated signaling pathway (GO:2001045)|negative regulation of neuroblast proliferation (GO:0007406)|odontogenesis of dentin-containing tooth (GO:0042475)|ovarian follicle development (GO:0001541)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of smoothened signaling pathway (GO:0045880)|protein heterooligomerization (GO:0051291)|response to estrogen (GO:0043627)	acrosomal vesicle (GO:0001669)|actin cytoskeleton (GO:0015629)|catenin complex (GO:0016342)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|intercalated disc (GO:0014704)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|zonula adherens (GO:0005915)	beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|gamma-catenin binding (GO:0045295)|poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)|vinculin binding (GO:0017166)			NS(1)|breast(7)|cervix(2)|endometrium(4)|kidney(6)|large_intestine(16)|lung(9)|oesophagus(2)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	52			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			CCTCGTAGGTGGACAGCGCCA	0.582																																							uc003ldh.2		NA																	0				breast(6)|ovary(2)|large_intestine(2)|kidney(1)	11						c.(2434-2436)GTG>GTA		catenin, alpha 1							72.0	56.0	61.0					5																	138269493		2203	4300	6503	SO:0001819	synonymous_variant	1495				adherens junction organization|apical junction assembly|cell adhesion|cellular response to indole-3-methanol|muscle cell differentiation|positive regulation of muscle cell differentiation	actin cytoskeleton|catenin complex|cytosol	beta-catenin binding|cadherin binding|gamma-catenin binding|structural molecule activity|vinculin binding	g.chr5:138269493G>A	D13866	CCDS34243.1, CCDS75315.1	5q31.2	2008-02-05	2002-08-29			ENSG00000044115			2509	protein-coding gene	gene with protein product		116805	"""catenin (cadherin-associated protein), alpha 1 (102kD)"""			1924379	Standard	XM_005271898		Approved	CAP102	uc003ldh.3	P35221		ENST00000302763.7:c.2436G>A	5.37:g.138269493G>A						CTNNA1_uc011cyx.1_Silent_p.V709V|CTNNA1_uc011cyy.1_Silent_p.V689V|CTNNA1_uc003ldi.2_Silent_p.V510V|CTNNA1_uc003ldj.2_Nonsense_Mutation_p.W836*|CTNNA1_uc003ldl.2_Silent_p.V442V	p.V812V	NM_001903	NP_001894	P35221	CTNA1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)		18	2531	+			812					Q12795|Q8N1C0	Silent	SNP	ENST00000302763.7	37	c.2436G>A	CCDS34243.1	.	.	.	.	.	.	.	.	.	.	G	37	6.246418	0.97408	.	.	ENSG00000044115	ENST00000518825	.	.	.	4.41	4.41	0.53225	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.09084	T	0.74	-9.8402	11.9758	0.53091	0.0:0.0:0.8267:0.1733	.	.	.	.	X	836	.	ENSP00000427821:W836X	W	+	2	0	CTNNA1	138297392	1.000000	0.71417	1.000000	0.80357	0.896000	0.52359	4.544000	0.60691	2.289000	0.77006	0.561000	0.74099	TGG		0.582	CTNNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373868.1	NM_001903		8	25	0	0	0	0.008291	0	8	25				
PCDHA9	9752	broad.mit.edu	37	5	140389313	140389313	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr5:140389313G>T	ENST00000532602.1	+	4	3677	c.2644G>T	c.(2644-2646)Ggt>Tgt	p.G882C	PCDHA6_ENST00000527624.1_Missense_Mutation_p.G618C|PCDHAC1_ENST00000253807.2_Missense_Mutation_p.G895C|PCDHA5_ENST00000529859.1_Missense_Mutation_p.G868C|PCDHA1_ENST00000394633.3_Missense_Mutation_p.G618C|PCDHA2_ENST00000526136.1_Missense_Mutation_p.G880C|PCDHA5_ENST00000529619.1_Splice_Site_p.E868*|PCDHA13_ENST00000409494.1_Splice_Site_p.E882*|PCDHA6_ENST00000529310.1_Missense_Mutation_p.G882C|PCDHA13_ENST00000289272.2_Missense_Mutation_p.G882C|PCDHA12_ENST00000398631.2_Missense_Mutation_p.G873C|PCDHA10_ENST00000506939.2_Missense_Mutation_p.G617C|PCDHA4_ENST00000512229.2_Splice_Site_p.E879*|PCDHAC2_ENST00000289269.5_Missense_Mutation_p.G939C|PCDHA7_ENST00000525929.1_Missense_Mutation_p.G869C|PCDHA11_ENST00000398640.2_Missense_Mutation_p.G881C|PCDHA4_ENST00000530339.1_Missense_Mutation_p.G879C|PCDHA10_ENST00000307360.5_Missense_Mutation_p.G880C|PCDHA1_ENST00000504120.2_Missense_Mutation_p.G882C|PCDHA8_ENST00000531613.1_Missense_Mutation_p.G882C|PCDHA3_ENST00000522353.2_Missense_Mutation_p.G882C	NM_031857.1	NP_114063.1	Q9Y5H5	PCDA9_HUMAN	protocadherin alpha 9	882	5 X 4 AA repeats of P-X-X-P.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATCCGGTCCCGGTGAGTTGCC	0.522																																					Melanoma(55;1800 1972 14909)	Melanoma(147;1739 1852 5500 27947 37288)	uc003lif.2		NA																	0				ovary(3)|skin(2)|central_nervous_system(1)	6						c.(2644-2646)GGT>TGT		protocadherin alpha 13 isoform 1 precursor							63.0	67.0	66.0					5																	140389313		2203	4300	6503	SO:0001583	missense	56136				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140389313G>T	AF152487	CCDS54920.1	5q31	2010-11-26				ENSG00000204961		"""Cadherins / Protocadherins : Clustered"""	8675	other	complex locus constituent	"""KIAA0345-like 5"""	606315				10380929	Standard	NM_031857		Approved	KIAA0345, PCDH-ALPHA9		Q9Y5H5		ENST00000532602.1:c.2644G>T	5.37:g.140389313G>T	ENSP00000436042:p.Gly882Cys					PCDHA1_uc003lha.2_Missense_Mutation_p.G618C|PCDHA1_uc003lhb.2_Missense_Mutation_p.G882C|PCDHA2_uc003lhd.2_Missense_Mutation_p.G880C|PCDHA3_uc003lhf.2_Missense_Mutation_p.G882C|PCDHA4_uc003lhi.2_Missense_Mutation_p.G879C|PCDHA4_uc003lhh.1_Nonsense_Mutation_p.E879*|PCDHA5_uc003lhk.1_Nonsense_Mutation_p.E868*|PCDHA5_uc003lhl.2_Missense_Mutation_p.G868C|PCDHA6_uc003lhn.2_Missense_Mutation_p.G618C|PCDHA6_uc003lho.2_Missense_Mutation_p.G882C|PCDHA7_uc003lhq.2_Missense_Mutation_p.G869C|PCDHA8_uc003lhs.2_Missense_Mutation_p.G882C|PCDHA9_uc003lhu.2_Missense_Mutation_p.G882C|PCDHA10_uc003lhw.2_Missense_Mutation_p.G617C|PCDHA10_uc003lhx.2_Missense_Mutation_p.G880C|PCDHA11_uc003lia.2_Missense_Mutation_p.G881C|PCDHA12_uc003lic.2_Missense_Mutation_p.G873C|PCDHA13_uc003lie.1_Nonsense_Mutation_p.E882*|PCDHAC1_uc003lih.2_Missense_Mutation_p.G895C|PCDHAC2_uc003lii.2_Missense_Mutation_p.G939C	p.G882C	NM_018904	NP_061727	Q9Y5I0	PCDAD_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		4	2644	+			882			Cytoplasmic (Potential).|6 X 4 AA repeats of P-X-X-P.		O15053|Q2M3S5	Missense_Mutation	SNP	ENST00000532602.1	37	c.2644G>T	CCDS54920.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	37|37	6.252931|6.252931	0.97417|0.97417	.|.	.|.	ENSG00000204967;ENSG00000204965;ENSG00000239389|ENSG00000204970;ENSG00000204970;ENSG00000204969;ENSG00000255408;ENSG00000204967;ENSG00000204965;ENSG00000081842;ENSG00000081842;ENSG00000204963;ENSG00000204962;ENSG00000204961;ENSG00000250120;ENSG00000250120;ENSG00000249158;ENSG00000251664;ENSG00000239389;ENSG00000248383;ENSG00000243232	ENST00000512229;ENST00000529619;ENST00000409494|ENST00000504120;ENST00000394633;ENST00000526136;ENST00000522353;ENST00000530339;ENST00000529859;ENST00000529310;ENST00000527624;ENST00000525929;ENST00000531613;ENST00000532602;ENST00000506939;ENST00000307360;ENST00000398640;ENST00000398631;ENST00000289272;ENST00000253807;ENST00000289269	.|T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	.|0.58940	.|0.5;0.32;0.52;0.53;0.51;0.53;0.53;0.3;0.47;0.58;0.58;0.3;0.45;0.51;0.56;0.63;0.36;0.63	5.67|5.67	5.67|5.67	0.87782|0.87782	.|.	.|0.000000	.|0.41396	.|D	.|0.000885	.|T	.|0.72128	.|0.3422	L|L	0.55481|0.55481	1.735|1.735	0.58432|0.58432	D|D	0.999999|0.999999	.|D;D;D;D;D;D;D;D;D;D;D;B;D;D;D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;0.264;1.0;1.0;1.0;1.0;1.0;1.0	.|D;D;D;D;D;D;D;D;D;D;D;B;D;D;D;D;D;D	.|0.97110	.|0.995;0.985;1.0;1.0;1.0;1.0;1.0;1.0;1.0;0.995;1.0;0.123;1.0;1.0;1.0;0.95;0.999;0.985	.|T	.|0.73232	.|-0.4048	.|10	0.87932|0.87932	D|D	0|0	.|.	15.5977|15.5977	0.76599|0.76599	0.0:0.137:0.863:0.0|0.0:0.137:0.863:0.0	.|.	.|939;895;882;873;881;880;617;882;882;869;882;618;868;879;882;880;882;618	.|Q9Y5I4;Q9H158;Q9Y5I0;Q9UN75;Q9Y5I1;Q9Y5I2;Q9Y5I2-2;Q9Y5H5;Q9Y5H6;Q9UN72;Q9UN73;Q9UN73-2;Q9Y5H7;Q9UN74;Q9Y5H8;Q9Y5H9;Q9Y5I3;Q9Y5I3-2	.|PCDC2_HUMAN;PCDC1_HUMAN;PCDAD_HUMAN;PCDAC_HUMAN;PCDAB_HUMAN;PCDAA_HUMAN;.;PCDA9_HUMAN;PCDA8_HUMAN;PCDA7_HUMAN;PCDA6_HUMAN;.;PCDA5_HUMAN;PCDA4_HUMAN;PCDA3_HUMAN;PCDA2_HUMAN;PCDA1_HUMAN;.	X|C	879;868;882|882;618;880;882;879;868;882;618;869;882;882;617;880;881;873;882;895;939	.|ENSP00000420840:G882C;ENSP00000378129:G618C;ENSP00000431748:G880C;ENSP00000429808:G882C;ENSP00000435300:G879C;ENSP00000436557:G868C;ENSP00000433378:G882C;ENSP00000434113:G618C;ENSP00000436426:G869C;ENSP00000434655:G882C;ENSP00000436042:G882C;ENSP00000421030:G617C;ENSP00000304234:G880C;ENSP00000381636:G881C;ENSP00000381628:G873C;ENSP00000289272:G882C;ENSP00000253807:G895C;ENSP00000289269:G939C	ENSP00000386821:E882X|ENSP00000304234:G880C	E|G	+|+	1|1	0|0	PCDHA4;PCDHA5;PCDHA13|PCDHA6;PCDHA7;PCDHA8;PCDHA9;PCDHA2;PCDHA3;PCDHA4;PCDHA5;PCDHA10;PCDHA11;PCDHA12;PCDHA1;PCDHA13;PCDHAC2;PCDHAC1	140369497|140369497	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	7.439000|7.439000	0.80444|0.80444	2.837000|2.837000	0.97791|0.97791	0.655000|0.655000	0.94253|0.94253	GAA|GGT		0.522	PCDHA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372896.2	NM_031857		13	59	1	0	4.36969e-10	0.001855	5.39e-10	13	59				
PCDHB4	56131	broad.mit.edu	37	5	140501695	140501695	+	Missense_Mutation	SNP	G	G	C			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr5:140501695G>C	ENST00000194152.1	+	1	115	c.115G>C	c.(115-117)Gag>Cag	p.E39Q	AC005754.8_ENST00000606030.1_lincRNA	NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN	protocadherin beta 4	39	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGAGGAAACAGAGAGCGGCTC	0.532																																							uc003lip.1		NA																	0				upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3						c.(115-117)GAG>CAG		protocadherin beta 4 precursor							101.0	102.0	102.0					5																	140501695		2203	4300	6503	SO:0001583	missense	56131				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding	g.chr5:140501695G>C	AF152497	CCDS4246.1	5q31	2010-01-26			ENSG00000081818	ENSG00000081818		"""Cadherins / Protocadherins : Clustered"""	8689	other	protocadherin		606330				10380929	Standard	NM_018938		Approved	PCDH-BETA4	uc003lip.1	Q9Y5E5	OTTHUMG00000129617	ENST00000194152.1:c.115G>C	5.37:g.140501695G>C	ENSP00000194152:p.Glu39Gln						p.E39Q	NM_018938	NP_061761	Q9Y5E5	PCDB4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	115	+			39			Cadherin 1.|Extracellular (Potential).		Q4V761	Missense_Mutation	SNP	ENST00000194152.1	37	c.115G>C	CCDS4246.1	.	.	.	.	.	.	.	.	.	.	G	11.26	1.586590	0.28268	.	.	ENSG00000081818	ENST00000194152	T	0.30981	1.51	4.66	3.78	0.43462	Cadherin, N-terminal (1);Cadherin-like (1);	.	.	.	.	T	0.30510	0.0767	L	0.38692	1.165	0.09310	N	0.999997	P	0.36837	0.571	P	0.45712	0.491	T	0.19910	-1.0291	9	0.54805	T	0.06	.	6.1238	0.20167	0.1612:0.1638:0.675:0.0	.	39	Q9Y5E5	PCDB4_HUMAN	Q	39	ENSP00000194152:E39Q	ENSP00000194152:E39Q	E	+	1	0	PCDHB4	140481879	0.001000	0.12720	1.000000	0.80357	0.947000	0.59692	0.295000	0.19065	1.293000	0.44690	-0.175000	0.13238	GAG		0.532	PCDHB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251812.2	NM_018938		11	47	0	0	0	0.001855	0	11	47				
PCDHGB1	56104	broad.mit.edu	37	5	140729927	140729927	+	Missense_Mutation	SNP	A	A	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr5:140729927A>T	ENST00000523390.1	+	1	100	c.100A>T	c.(100-102)Acg>Tcg	p.T34S	PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018922.2|NM_032095.1	NP_061745.1|NP_115266.1	Q9Y5G3	PCDGD_HUMAN	protocadherin gamma subfamily B, 1	34	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)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GATCCGATACACGATTCCAGA	0.547											OREG0016856	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc003ljo.1		NA																	0					0						c.(100-102)ACG>TCG		protocadherin gamma subfamily B, 1 isoform 1							46.0	47.0	47.0					5																	140729927		1905	4131	6036	SO:0001583	missense	56104				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140729927A>T	AF152517	CCDS54923.1, CCDS75330.1	5q31	2010-01-26				ENSG00000254221		"""Cadherins / Protocadherins : Clustered"""	8708	other	protocadherin	"""protocadherin gamma subfamily B, 1, isoform 2"""	606299				10380929	Standard	NM_018922		Approved	PCDH-GAMMA-B1		Q9Y5G3		ENST00000523390.1:c.100A>T	5.37:g.140729927A>T	ENSP00000429273:p.Thr34Ser		OREG0016856	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1658	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc011daq.1_Missense_Mutation_p.T34S	p.T34S	NM_018922	NP_061745	Q9Y5G3	PCDGD_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	100	+			34			Cadherin 1.|Extracellular (Potential).		Q3SY75|Q9Y5C8	Missense_Mutation	SNP	ENST00000523390.1	37	c.100A>T	CCDS54923.1	.	.	.	.	.	.	.	.	.	.	.	0.020	-1.439490	0.01098	.	.	ENSG00000254221	ENST00000523390	T	0.19938	2.11	5.52	-8.27	0.01017	Cadherin, N-terminal (1);Cadherin (2);Cadherin-like (1);	.	.	.	.	T	0.02533	0.0077	N	0.00106	-2.12	0.09310	N	1	B;B	0.09022	0.0;0.002	B;B	0.08055	0.001;0.003	T	0.43669	-0.9377	9	0.02654	T	1	.	7.1165	0.25418	0.2447:0.0:0.2724:0.4828	.	34;34	Q9Y5G3-2;Q9Y5G3	.;PCDGD_HUMAN	S	34	ENSP00000429273:T34S	ENSP00000429273:T34S	T	+	1	0	PCDHGB1	140710111	0.000000	0.05858	0.000000	0.03702	0.233000	0.25261	-0.548000	0.06048	-0.863000	0.04084	0.460000	0.39030	ACG		0.547	PCDHGB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374740.1	NM_018922		11	6	0	0	0	0.001368	0	11	6				
PCDHGA5	56110	broad.mit.edu	37	5	140744112	140744112	+	Missense_Mutation	SNP	C	C	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr5:140744112C>T	ENST00000518069.1	+	1	215	c.215C>T	c.(214-216)aCg>aTg	p.T72M	PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron	NM_018918.2|NM_032054.1	NP_061741.1|NP_114443.1	Q9Y5G8	PCDG5_HUMAN	protocadherin gamma subfamily A, 5	72	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)			endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGAGGTAGGACGCAGCTTTTT	0.642																																							uc003lju.1		NA																	0				ovary(4)	4						c.(214-216)ACG>ATG		protocadherin gamma subfamily A, 5 isoform 1							55.0	65.0	62.0					5																	140744112		2202	4298	6500	SO:0001583	missense	56110				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140744112C>T	AF152512	CCDS54925.1, CCDS75333.1	5q31	2010-01-26				ENSG00000253485		"""Cadherins / Protocadherins : Clustered"""	8703	other	protocadherin	"""cadherin ME3"""	606292				10380929	Standard	NM_018918		Approved	CDH-GAMMA-A5, ME3, PCDH-GAMMA-A5		Q9Y5G8		ENST00000518069.1:c.215C>T	5.37:g.140744112C>T	ENSP00000429834:p.Thr72Met					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_uc011das.1_Missense_Mutation_p.T72M	p.T72M	NM_018918	NP_061741	Q9Y5G8	PCDG5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	215	+			72			Cadherin 1.|Extracellular (Potential).		Q2M3F5|Q9Y5D2	Missense_Mutation	SNP	ENST00000518069.1	37	c.215C>T	CCDS54925.1	.	.	.	.	.	.	.	.	.	.	.	7.535	0.659531	0.14645	.	.	ENSG00000253485	ENST00000518069	T	0.29142	1.58	5.38	4.39	0.52855	Cadherin, N-terminal (1);Cadherin (2);Cadherin-like (1);	.	.	.	.	T	0.29524	0.0736	L	0.58354	1.805	0.09310	N	1	P;P	0.43024	0.64;0.798	B;B	0.36378	0.143;0.223	T	0.20405	-1.0276	9	0.41790	T	0.15	.	13.1675	0.59579	0.2621:0.7379:0.0:0.0	.	72;72	Q9Y5G8-2;Q9Y5G8	.;PCDG5_HUMAN	M	72	ENSP00000429834:T72M	ENSP00000429834:T72M	T	+	2	0	PCDHGA5	140724296	0.000000	0.05858	1.000000	0.80357	0.551000	0.35334	-1.521000	0.02239	2.694000	0.91930	0.558000	0.71614	ACG		0.642	PCDHGA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374742.1	NM_018918		39	28	0	0	0	0.00361	0	39	28				
GM2A	2760	broad.mit.edu	37	5	150632804	150632804	+	Silent	SNP	C	C	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr5:150632804C>T	ENST00000357164.3	+	1	352	c.27C>T	c.(25-27)ctC>ctT	p.L9L		NM_000405.4|NM_001167607.1	NP_000396.2|NP_001161079.1	P17900	SAP3_HUMAN	GM2 ganglioside activator	9					ganglioside catabolic process (GO:0006689)|glycosphingolipid metabolic process (GO:0006687)|learning or memory (GO:0007611)|lipid storage (GO:0019915)|neuromuscular process controlling balance (GO:0050885)|oligosaccharide catabolic process (GO:0009313)|positive regulation of hydrolase activity (GO:0051345)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	apical cortex (GO:0045179)|cytoplasmic side of plasma membrane (GO:0009898)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|mitochondrion (GO:0005739)	beta-N-acetylhexosaminidase activity (GO:0004563)|lipid transporter activity (GO:0005319)|phospholipase activator activity (GO:0016004)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|pancreas(1)|upper_aerodigestive_tract(2)	8		Medulloblastoma(196;0.091)|all_hematologic(541;0.207)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AGGCTCCCCTCCTGATCGCCC	0.597																																							uc003ltr.3		NA																	0					0						c.(25-27)CTC>CTT		GM2 ganglioside activator precursor							62.0	59.0	60.0					5																	150632804		2203	4300	6503	SO:0001819	synonymous_variant	2760					lysosome|nucleolus	sphingolipid activator protein activity	g.chr5:150632804C>T		CCDS4313.1	5q33.1	2010-03-17	2004-05-20		ENSG00000196743	ENSG00000196743			4367	protein-coding gene	gene with protein product	"""cerebroside sulfate activator protein"", ""sphingolipid activator protein 3"""	613109	"""GM2 ganglioside activator protein"""			115863, 1915857	Standard	NM_000405		Approved	SAP-3	uc003ltr.4	P17900	OTTHUMG00000130124	ENST00000357164.3:c.27C>T	5.37:g.150632804C>T						GM2A_uc011dcs.1_RNA|GM2A_uc011dcr.1_Silent_p.L9L	p.L9L	NM_000405	NP_000396	P17900	SAP3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		1	192	+		Medulloblastoma(196;0.091)|all_hematologic(541;0.207)	9					B2R699|D3DQH6|Q14426|Q14428|Q6LBL5	Silent	SNP	ENST00000357164.3	37	c.27C>T	CCDS4313.1																																																																																				0.597	GM2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252432.1	NM_000405		12	67	0	0	0	0.003163	0	12	67				
SPARC	6678	broad.mit.edu	37	5	151049324	151049324	+	Missense_Mutation	SNP	T	T	C			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr5:151049324T>C	ENST00000231061.4	-	6	665	c.352A>G	c.(352-354)Acc>Gcc	p.T118A	SPARC_ENST00000537849.1_5'Flank	NM_003118.3	NP_003109.1	P09486	SPRC_HUMAN	secreted protein, acidic, cysteine-rich (osteonectin)	118	Kazal-like. {ECO:0000255|PROSITE- ProRule:PRU00798}.				blood coagulation (GO:0007596)|bone development (GO:0060348)|cellular response to growth factor stimulus (GO:0071363)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|inner ear development (GO:0048839)|lung development (GO:0030324)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell proliferation (GO:0001937)|ossification (GO:0001503)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of endothelial cell migration (GO:0010595)|regulation of cell morphogenesis (GO:0022604)|response to cadmium ion (GO:0046686)|response to calcium ion (GO:0051592)|response to cAMP (GO:0051591)|response to cytokine (GO:0034097)|response to ethanol (GO:0045471)|response to glucocorticoid (GO:0051384)|response to gravity (GO:0009629)|response to L-ascorbic acid (GO:0033591)|response to lead ion (GO:0010288)|response to lipopolysaccharide (GO:0032496)|response to peptide hormone (GO:0043434)|signal transduction (GO:0007165)	basement membrane (GO:0005604)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|nuclear matrix (GO:0016363)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|platelet alpha granule membrane (GO:0031092)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|extracellular matrix binding (GO:0050840)			central_nervous_system(3)|large_intestine(5)|lung(5)|ovary(1)|urinary_tract(1)	15		Medulloblastoma(196;0.109)|all_hematologic(541;0.122)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)	OV - Ovarian serous cystadenocarcinoma(192;0.00118)		GAGTCGAAGGTCTTGTTGTCA	0.527																																							uc003luh.2		NA																	0				central_nervous_system(1)	1						c.(352-354)ACC>GCC		secreted protein, acidic, cysteine-rich	Becaplermin(DB00102)						131.0	118.0	123.0					5																	151049324		2203	4300	6503	SO:0001583	missense	6678				ossification|platelet activation|platelet degranulation|signal transduction	basement membrane|extracellular space|platelet alpha granule lumen	calcium ion binding|collagen binding	g.chr5:151049324T>C		CCDS4318.1	5q31-q33	2012-10-02			ENSG00000113140	ENSG00000113140			11219	protein-coding gene	gene with protein product	"""cysteine-rich protein"", ""osteonectin"""	182120		ON		2838412, 3410046	Standard	NM_003118		Approved		uc003lui.4	P09486	OTTHUMG00000130122	ENST00000231061.4:c.352A>G	5.37:g.151049324T>C	ENSP00000231061:p.Thr118Ala					GM2A_uc011dcs.1_Intron|SPARC_uc003lug.2_5'UTR|SPARC_uc003lui.2_Missense_Mutation_p.T118A	p.T118A	NM_003118	NP_003109	P09486	SPRC_HUMAN	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)	OV - Ovarian serous cystadenocarcinoma(192;0.00118)	5	376	-		Medulloblastoma(196;0.109)|all_hematologic(541;0.122)	118			Kazal-like.		D3DQH9|Q6IBK4	Missense_Mutation	SNP	ENST00000231061.4	37	c.352A>G	CCDS4318.1	.	.	.	.	.	.	.	.	.	.	T	28.3	4.911149	0.92178	.	.	ENSG00000113140	ENST00000231061;ENST00000538026;ENST00000521569	D;D;D	0.85773	-2.03;-2.03;-2.03	5.7	5.7	0.88788	Proteinase inhibitor I1, Kazal (2);	0.000000	0.85682	D	0.000000	D	0.94016	0.8083	M	0.92219	3.285	0.80722	D	1	D	0.69078	0.997	D	0.72075	0.976	D	0.95317	0.8417	10	0.87932	D	0	-32.2273	15.9765	0.80071	0.0:0.0:0.0:1.0	.	118	P09486	SPRC_HUMAN	A	118;27;27	ENSP00000231061:T118A;ENSP00000440127:T27A;ENSP00000428119:T27A	ENSP00000231061:T118A	T	-	1	0	SPARC	151029517	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.516000	0.81772	2.172000	0.68678	0.533000	0.62120	ACC		0.527	SPARC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252430.1	NM_003118		58	39	0	0	0	0.00361	0	58	39				
MRPL22	29093	broad.mit.edu	37	5	154346360	154346360	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr5:154346360G>T	ENST00000523037.1	+	7	565	c.524G>T	c.(523-525)gGg>gTg	p.G175V	MRPL22_ENST00000265229.8_Missense_Mutation_p.G95V|MRPL22_ENST00000518364.1_3'UTR|MRPL22_ENST00000522038.1_Missense_Mutation_p.G181V|MRPL22_ENST00000439747.3_Missense_Mutation_p.G201V	NM_014180.3	NP_054899.2	Q9NWU5	RM22_HUMAN	mitochondrial ribosomal protein L22	175					translation (GO:0006412)	large ribosomal subunit (GO:0015934)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|urinary_tract(2)	10	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			TTGGTGGAAGGGCCCCCACCT	0.537																																							uc003lvy.3		NA																	0					0						c.(523-525)GGG>GTG		mitochondrial ribosomal protein L22 isoform a							109.0	101.0	103.0					5																	154346360		2203	4300	6503	SO:0001583	missense	29093				translation	large ribosomal subunit|mitochondrion	structural constituent of ribosome	g.chr5:154346360G>T	AB051622	CCDS4331.1, CCDS43391.1	5q33.2	2012-09-13			ENSG00000082515	ENSG00000082515		"""Mitochondrial ribosomal proteins / large subunits"""	14480	protein-coding gene	gene with protein product		611835					Standard	NM_014180		Approved	MRP-L25, RPML25, HSPC158	uc003lvy.4	Q9NWU5	OTTHUMG00000130190	ENST00000523037.1:c.524G>T	5.37:g.154346360G>T	ENSP00000431040:p.Gly175Val					MRPL22_uc003lvz.3_Missense_Mutation_p.G95V	p.G175V	NM_014180	NP_054899	Q9NWU5	RM22_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)		7	562	+	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	175					A6NGJ8|Q5H9Q1|Q96Q51|Q9P006	Missense_Mutation	SNP	ENST00000523037.1	37	c.524G>T	CCDS4331.1	.	.	.	.	.	.	.	.	.	.	G	28.9	4.958523	0.92726	.	.	ENSG00000082515	ENST00000523037;ENST00000265229;ENST00000439747;ENST00000522038	T;T;T;T	0.40476	1.03;1.03;1.03;1.03	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	T	0.70090	0.3184	M	0.82323	2.585	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.72849	-0.4168	10	0.72032	D	0.01	-17.4053	20.0415	0.97592	0.0:0.0:1.0:0.0	.	175	Q9NWU5	RM22_HUMAN	V	175;95;201;181	ENSP00000431040:G175V;ENSP00000265229:G95V;ENSP00000411177:G201V;ENSP00000429039:G181V	ENSP00000265229:G95V	G	+	2	0	MRPL22	154326553	1.000000	0.71417	0.992000	0.48379	0.695000	0.40330	9.498000	0.97972	2.745000	0.94114	0.563000	0.77884	GGG		0.537	MRPL22-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252508.2			9	35	1	0	1.58986e-06	0.008291	1.8065e-06	9	35				
SOX30	11063	broad.mit.edu	37	5	157073778	157073778	+	Silent	SNP	T	T	C			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr5:157073778T>C	ENST00000265007.6	-	3	1595	c.1254A>G	c.(1252-1254)ctA>ctG	p.L418L	SOX30_ENST00000311371.5_Silent_p.L418L|SOX30_ENST00000519442.1_Silent_p.L113L	NM_178424.1	NP_848511.1	O94993	SOX30_HUMAN	SRY (sex determining region Y)-box 30	418					regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to corticosteroid (GO:0031960)|spermatogenesis (GO:0007283)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	23	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TGGAAACACTTAGAGGGAATC	0.383																																					Esophageal Squamous(31;525 799 19355 21125 41744)	Esophageal Squamous(31;525 799 19355 21125 41744)	uc003lxb.1		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(1252-1254)CTA>CTG		SRY (sex determining region Y)-box 30 isoform a							132.0	130.0	131.0					5																	157073778		2203	4300	6503	SO:0001819	synonymous_variant	11063				regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|response to corticosteroid stimulus|transcription, DNA-dependent	nucleus|nucleus	sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity	g.chr5:157073778T>C	AB022083	CCDS4339.1, CCDS4340.1	5q33	2010-10-21			ENSG00000039600	ENSG00000039600		"""SRY (sex determining region Y)-boxes"""	30635	protein-coding gene	gene with protein product		606698				15019997, 11678506	Standard	NM_178424		Approved		uc003lxb.1	O94993	OTTHUMG00000130247	ENST00000265007.6:c.1254A>G	5.37:g.157073778T>C						SOX30_uc003lxc.1_Silent_p.L418L|SOX30_uc011dds.1_Silent_p.L113L	p.L418L	NM_178424	NP_848511	O94993	SOX30_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		3	1596	-	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	418					O94995|Q8IYX6	Silent	SNP	ENST00000265007.6	37	c.1254A>G	CCDS4339.1																																																																																				0.383	SOX30-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252571.2	NM_007017		40	62	0	0	0	0.00361	0	40	62				
GABRA6	2559	broad.mit.edu	37	5	161116337	161116337	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr5:161116337G>T	ENST00000274545.5	+	5	957	c.524G>T	c.(523-525)gGg>gTg	p.G175V	RP11-348M17.2_ENST00000521984.1_RNA|GABRA6_ENST00000523217.1_Missense_Mutation_p.G165V			Q16445	GBRA6_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 6	175					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Acamprosate(DB00659)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)	CTCAAGTTTGGGAGCTGTAAG	0.383										TCGA Ovarian(5;0.080)																													uc003lyu.2		NA																	0				ovary(7)|skin(3)|large_intestine(1)|central_nervous_system(1)	12						c.(523-525)GGG>GTG		gamma-aminobutyric acid A receptor, alpha 6	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)						120.0	107.0	111.0					5																	161116337		2203	4300	6503	SO:0001583	missense	2559				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity	g.chr5:161116337G>T		CCDS4356.1	5q34	2012-06-22			ENSG00000145863	ENSG00000145863		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4080	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 6"""	137143				8020978	Standard	NM_000811		Approved		uc003lyu.2	Q16445	OTTHUMG00000130351	ENST00000274545.5:c.524G>T	5.37:g.161116337G>T	ENSP00000274545:p.Gly175Val	TCGA Ovarian(5;0.080)				GABRA6_uc003lyv.2_5'Flank	p.G175V	NM_000811	NP_000802	Q16445	GBRA6_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		5	862	+	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	175			Extracellular (Probable).		A8K096|Q4VAV2	Missense_Mutation	SNP	ENST00000274545.5	37	c.524G>T	CCDS4356.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	24.7|24.7	4.560354|4.560354	0.86335|0.86335	.|.	.|.	ENSG00000145863|ENSG00000145863	ENST00000274545;ENST00000523217;ENST00000517823;ENST00000523691|ENST00000520000	T;T;T;T|.	0.80653|.	-1.4;-1.4;-1.4;-1.4|.	5.74|5.74	5.74|5.74	0.90152|0.90152	Neurotransmitter-gated ion-channel ligand-binding (3);|.	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	T|.	0.81959|.	0.4933|.	M|M	0.79011|0.79011	2.435|2.435	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.97110|.	1.0|.	T|.	0.83206|.	-0.0076|.	10|.	0.66056|0.72032	D|D	0.02|0.01	.|.	19.9254|19.9254	0.97100|0.97100	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	175|.	Q16445|.	GBRA6_HUMAN|.	V|X	175;165;122;70|115	ENSP00000274545:G175V;ENSP00000430527:G165V;ENSP00000430212:G122V;ENSP00000427989:G70V|.	ENSP00000274545:G175V|ENSP00000429943:G115X	G|G	+|+	2|1	0|0	GABRA6|GABRA6	161048915|161048915	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.980000|0.980000	0.70556|0.70556	9.751000|9.751000	0.98889|0.98889	2.710000|2.710000	0.92621|0.92621	0.655000|0.655000	0.94253|0.94253	GGG|GGA		0.383	GABRA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252707.2			21	58	1	0	1.75199e-13	0.007291	2.30476e-13	21	58				
BNIP1	662	broad.mit.edu	37	5	172571589	172571589	+	Missense_Mutation	SNP	A	A	C	rs574543486		TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr5:172571589A>C	ENST00000351486.5	+	1	72	c.41A>C	c.(40-42)cAa>cCa	p.Q14P	BNIP1_ENST00000231668.9_Missense_Mutation_p.Q14P|BNIP1_ENST00000352523.6_Missense_Mutation_p.Q14P|CTC-209H22.3_ENST00000521251.1_RNA|BNIP1_ENST00000393770.4_Missense_Mutation_p.Q14P	NM_001205.2	NP_001196.2	Q12981	SEC20_HUMAN	BCL2/adenovirus E1B 19kDa interacting protein 1	14			Q -> H (in dbSNP:rs5745100). {ECO:0000269|Ref.4}.	Q -> R (in Ref. 3; AAO91805). {ECO:0000305}.	apoptotic process (GO:0006915)|autophagy (GO:0006914)|endoplasmic reticulum membrane fusion (GO:0016320)|endoplasmic reticulum organization (GO:0007029)|execution phase of apoptosis (GO:0097194)|negative regulation of apoptotic process (GO:0043066)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of endoplasmic reticulum membrane (GO:0030176)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|SNARE complex (GO:0031201)	SNAP receptor activity (GO:0005484)			breast(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|skin(1)	11	Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			ATCTGTAACCAAGAGATTGTC	0.602											OREG0017054	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A|||	1	0.000199681	0.0	0.0	5008	,	,		15681	0.0		0.0	False		,,,				2504	0.001						uc003mcj.3		NA																	0				ovary(1)	1						c.(40-42)CAA>CCA		BCL2/adenovirus E1B 19kD interacting protein 1							61.0	59.0	60.0					5																	172571589		2203	4300	6503	SO:0001583	missense	662				anti-apoptosis|apoptosis|endoplasmic reticulum membrane fusion|endoplasmic reticulum organization|induction of apoptosis|vesicle-mediated transport	integral to endoplasmic reticulum membrane|nuclear envelope|SNARE complex	protein binding	g.chr5:172571589A>C	AF083957	CCDS4384.1, CCDS4385.1, CCDS4386.1, CCDS43400.1	5q33-q34	2008-02-05	2002-08-29		ENSG00000113734	ENSG00000113734			1082	protein-coding gene	gene with protein product		603291	"""BCL2/adenovirus E1B 19kD-interacting protein 1"""			7954800, 15272311	Standard	NM_013979		Approved	Nip1, SEC20	uc003mcj.4	Q12981	OTTHUMG00000130521	ENST00000351486.5:c.41A>C	5.37:g.172571589A>C	ENSP00000239215:p.Gln14Pro		OREG0017054	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1901	BNIP1_uc003mci.3_Missense_Mutation_p.Q14P|BNIP1_uc003mck.3_Missense_Mutation_p.Q14P|BNIP1_uc003mcl.3_Missense_Mutation_p.Q14P	p.Q14P	NM_001205	NP_001196	Q12981	SEC20_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		1	145	+	Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	14	Q -> R (in Ref. 3; AAO91805).		Cytoplasmic (Potential).		D3DQM3|D3DQM4|D3DQM5|D3DQM6|O75622|O75623|O75624|Q6K044|Q96FG4	Missense_Mutation	SNP	ENST00000351486.5	37	c.41A>C	CCDS4384.1	.	.	.	.	.	.	.	.	.	.	A	20.8	4.057247	0.76074	.	.	ENSG00000113734	ENST00000231668;ENST00000351486;ENST00000352523;ENST00000393770	T;T;T;T	0.55588	0.51;0.59;0.53;0.55	5.07	3.89	0.44902	.	0.060116	0.64402	N	0.000002	T	0.67785	0.2930	M	0.77616	2.38	0.80722	D	1	D;D;P;D	0.69078	0.988;0.997;0.956;0.996	P;D;B;D	0.66196	0.732;0.917;0.361;0.942	T	0.69480	-0.5134	10	0.87932	D	0	.	8.4264	0.32731	0.7343:0.1359:0.0:0.1298	.	14;14;14;14	Q12981-2;Q12981-3;Q12981;Q12981-1	.;.;SEC20_HUMAN;.	P	14	ENSP00000231668:Q14P;ENSP00000239215:Q14P;ENSP00000239214:Q14P;ENSP00000377365:Q14P	ENSP00000231668:Q14P	Q	+	2	0	BNIP1	172504195	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.594000	0.67557	0.938000	0.37419	-0.316000	0.08728	CAA		0.602	BNIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252939.1	NM_013979		7	38	0	0	0	0.00308	0	7	38				
NKX2-5	1482	broad.mit.edu	37	5	172659825	172659825	+	Missense_Mutation	SNP	T	T	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr5:172659825T>A	ENST00000329198.4	-	2	995	c.722A>T	c.(721-723)tAc>tTc	p.Y241F		NM_001166175.1|NM_001166176.1|NM_004387.3	NP_001159647.1|NP_001159648.1|NP_004378.1	P52952	NKX25_HUMAN	NK2 homeobox 5	241	Ala/Pro-rich.				adult heart development (GO:0007512)|apoptotic process involved in heart morphogenesis (GO:0003278)|atrial cardiac muscle cell development (GO:0055014)|atrial septum morphogenesis (GO:0060413)|atrioventricular node cell development (GO:0060928)|atrioventricular node cell fate commitment (GO:0060929)|BMP signaling pathway (GO:0030509)|bundle of His development (GO:0003166)|canonical Wnt signaling pathway (GO:0060070)|cardiac conduction system development (GO:0003161)|cardiac muscle cell differentiation (GO:0055007)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle contraction (GO:0060048)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac ventricle formation (GO:0003211)|cell differentiation (GO:0030154)|embryonic heart tube development (GO:0035050)|embryonic heart tube left/right pattern formation (GO:0060971)|heart looping (GO:0001947)|heart morphogenesis (GO:0003007)|heart trabecula formation (GO:0060347)|hemopoiesis (GO:0030097)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract septum morphogenesis (GO:0003148)|pharyngeal system development (GO:0060037)|positive regulation of cardioblast differentiation (GO:0051891)|positive regulation of cell proliferation (GO:0008284)|positive regulation of heart contraction (GO:0045823)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of sodium ion transport (GO:0010765)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|positive regulation of transcription via serum response element binding (GO:0010735)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of voltage-gated calcium channel activity (GO:1901387)|proepicardium development (GO:0003342)|pulmonary myocardium development (GO:0003350)|Purkinje myocyte differentiation (GO:0003168)|regulation of cardiac muscle cell proliferation (GO:0060043)|regulation of cardiac muscle contraction (GO:0055117)|right ventricular cardiac muscle tissue morphogenesis (GO:0003221)|sarcomere organization (GO:0045214)|septum secundum development (GO:0003285)|spleen development (GO:0048536)|thyroid gland development (GO:0030878)|vasculogenesis (GO:0001570)|ventricular cardiac muscle cell development (GO:0055015)|ventricular cardiac myofibril assembly (GO:0055005)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription cofactor activity (GO:0001104)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|serum response element binding (GO:0010736)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|large_intestine(2)|lung(7)|prostate(1)	12	Renal(175;0.000159)|Lung NSC(126;0.00229)|all_lung(126;0.004)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			GCCCACGCCGTAGGCAGGCGC	0.716																																					Esophageal Squamous(72;810 1219 2387 13420 44943)	Esophageal Squamous(72;810 1219 2387 13420 44943)	uc003mcm.1		NA																	0				central_nervous_system(1)	1						c.(721-723)TAC>TTC		NK2 transcription factor related, locus 5							13.0	15.0	14.0					5																	172659825		2172	4257	6429	SO:0001583	missense	1482				adult heart development|atrial cardiac muscle cell development|atrial septum morphogenesis|heart looping|hemopoiesis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cardiac muscle cell apoptosis|negative regulation of myotube differentiation|negative regulation of transcription from RNA polymerase II promoter|outflow tract septum morphogenesis|pharyngeal system development|positive regulation of calcium ion transport via voltage-gated calcium channel activity|positive regulation of cardioblast differentiation|positive regulation of cell proliferation|positive regulation of heart contraction|positive regulation of neuron differentiation|positive regulation of sodium ion transport|positive regulation of survival gene product expression|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription via serum response element binding|regulation of cardiac muscle contraction|right ventricular cardiac muscle tissue morphogenesis|septum secundum development|spleen development|thyroid gland development|vasculogenesis|ventricular septum morphogenesis		chromatin binding|protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|serum response element binding|transcription factor binding	g.chr5:172659825T>A	AB021133	CCDS4387.1, CCDS54949.1, CCDS54950.1	5q34	2014-09-17	2011-06-01	2002-10-04	ENSG00000183072	ENSG00000183072		"""Homeoboxes / ANTP class : NKL subclass"""	2488	protein-coding gene	gene with protein product	"""tinman paralog (Drosophila)"""	600584	"""cardiac-specific homeo box"", ""NK2 transcription factor related, locus 5 (Drosophila)"""	CSX, NKX2E		7665173, 8900537	Standard	NM_004387		Approved	CSX1, NKX2.5, NKX4-1	uc003mcm.2	P52952	OTTHUMG00000130522	ENST00000329198.4:c.722A>T	5.37:g.172659825T>A	ENSP00000327758:p.Tyr241Phe						p.Y241F	NM_004387	NP_004378	P52952	NKX25_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		2	898	-	Renal(175;0.000159)|Lung NSC(126;0.00229)|all_lung(126;0.004)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	241			Ala/Pro-rich.		A8K3K0|B4DNB6|E9PBU6	Missense_Mutation	SNP	ENST00000329198.4	37	c.722A>T	CCDS4387.1	.	.	.	.	.	.	.	.	.	.	T	16.44	3.124587	0.56613	.	.	ENSG00000183072	ENST00000329198	D	0.90563	-2.69	4.39	4.39	0.52855	.	0.000000	0.50627	D	0.000114	D	0.86944	0.6055	L	0.56396	1.775	0.80722	D	1	P	0.49185	0.92	B	0.40636	0.335	D	0.84871	0.0825	10	0.13108	T	0.6	.	13.7607	0.62963	0.0:0.0:0.0:1.0	.	241	P52952	NKX25_HUMAN	F	241	ENSP00000327758:Y241F	ENSP00000327758:Y241F	Y	-	2	0	NKX2-5	172592431	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	3.638000	0.54332	1.837000	0.53436	0.448000	0.29417	TAC		0.716	NKX2-5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252942.2			5	5	0	0	0	0.00308	0	5	5				
HK3	3101	broad.mit.edu	37	5	176314064	176314064	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr5:176314064C>A	ENST00000292432.5	-	13	1887	c.1796G>T	c.(1795-1797)gGg>gTg	p.G599V		NM_002115.2	NP_002106.2	P52790	HXK3_HUMAN	hexokinase 3 (white cell)	599	Catalytic.|Hexokinase type-1 2.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glucose transport (GO:0015758)|glycolytic process (GO:0006096)|hexose metabolic process (GO:0019318)|hexose transport (GO:0008645)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|protein complex (GO:0043234)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|hexokinase activity (GO:0004396)|hormone binding (GO:0042562)|mannokinase activity (GO:0019158)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GAGGCTCTGCCCGCTCAGGCC	0.607																																							uc003mfa.2		NA																	0				ovary(3)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|breast(1)|skin(1)	7						c.(1795-1797)GGG>GTG		hexokinase 3							83.0	74.0	77.0					5																	176314064		2203	4300	6503	SO:0001583	missense	3101				glucose transport|glycolysis|transmembrane transport	cytosol|membrane	ATP binding|glucokinase activity	g.chr5:176314064C>A		CCDS4407.1	5q35.2	2008-02-05			ENSG00000160883	ENSG00000160883	2.7.1.1		4925	protein-coding gene	gene with protein product		142570				8812439	Standard	NM_002115		Approved		uc003mfa.3	P52790	OTTHUMG00000130855	ENST00000292432.5:c.1796G>T	5.37:g.176314064C>A	ENSP00000292432:p.Gly599Val					HK3_uc003mez.2_Missense_Mutation_p.G155V	p.G599V	NM_002115	NP_002106	P52790	HXK3_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		13	1888	-	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	599			Catalytic.		Q8N1E7	Missense_Mutation	SNP	ENST00000292432.5	37	c.1796G>T	CCDS4407.1	.	.	.	.	.	.	.	.	.	.	C	16.33	3.093884	0.56075	.	.	ENSG00000160883	ENST00000292432	D	0.99105	-5.43	5.01	4.14	0.48551	Hexokinase, N-terminal (1);	0.000000	0.53938	D	0.000043	D	0.99055	0.9676	M	0.84585	2.705	0.33935	D	0.642504	D	0.76494	0.999	D	0.73708	0.981	D	0.99947	1.1483	10	0.87932	D	0	-20.7324	6.7536	0.23501	0.0:0.678:0.1582:0.1638	.	599	P52790	HXK3_HUMAN	V	599	ENSP00000292432:G599V	ENSP00000292432:G599V	G	-	2	0	HK3	176246670	0.000000	0.05858	0.680000	0.29994	0.892000	0.51952	0.373000	0.20484	1.112000	0.41740	0.561000	0.74099	GGG		0.607	HK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253428.1			7	30	1	0	0.00307968	0.00308	0.00323014	7	30				
RGS14	10636	broad.mit.edu	37	5	176795724	176795724	+	Missense_Mutation	SNP	C	C	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr5:176795724C>T	ENST00000408923.3	+	9	1044	c.856C>T	c.(856-858)Cgg>Tgg	p.R286W		NM_006480.4	NP_006471.2	O43566	RGS14_HUMAN	regulator of G-protein signaling 14	286					cell division (GO:0051301)|chromosome segregation (GO:0007059)|intracellular signal transduction (GO:0035556)|learning (GO:0007612)|long-term memory (GO:0007616)|long-term synaptic potentiation (GO:0060291)|mitotic nuclear division (GO:0007067)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of synaptic plasticity (GO:0031914)|nucleocytoplasmic transport (GO:0006913)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of GTPase activity (GO:0043547)|positive regulation of neurogenesis (GO:0050769)|regulation of DNA-templated transcription in response to stress (GO:0043620)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|response to oxidative stress (GO:0006979)|spindle organization (GO:0007051)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|visual learning (GO:0008542)|zygote asymmetric cell division (GO:0010070)	cell junction (GO:0030054)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|microtubule (GO:0005874)|nuclear body (GO:0016604)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|spindle (GO:0005819)|spindle pole (GO:0000922)	GDP-dissociation inhibitor activity (GO:0005092)|GTPase activator activity (GO:0005096)|microtubule binding (GO:0008017)|receptor signaling complex scaffold activity (GO:0030159)|receptor signaling protein activity (GO:0005057)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(3)|upper_aerodigestive_tract(1)	12	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TCAGAGCCACCGGAAGAGCCT	0.582											OREG0017086	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									NSCLC(47;353 1896 28036)	NSCLC(47;353 1896 28036)	uc003mgf.2		NA																	0				lung(1)	1						c.(856-858)CGG>TGG		regulator of G-protein signalling 14							66.0	79.0	74.0					5																	176795724		2064	4205	6269	SO:0001583	missense	10636				chromosome segregation|long-term memory|long-term synaptic potentiation|negative regulation of ERK1 and ERK2 cascade|negative regulation of MAP kinase activity|negative regulation of synaptic plasticity|nucleocytoplasmic transport|platelet-derived growth factor receptor signaling pathway|positive regulation of neurogenesis|regulation of DNA-dependent transcription in response to stress|regulation of G-protein coupled receptor protein signaling pathway|response to oxidative stress|spindle organization|visual learning|zygote asymmetric cell division	cell junction|centrosome|dendritic spine|microtubule|PML body|postsynaptic density|postsynaptic membrane|spindle pole	GDP-dissociation inhibitor activity|GTPase activator activity|microtubule binding|receptor signaling complex scaffold activity|receptor signaling protein activity	g.chr5:176795724C>T	AF037195	CCDS43405.1	5q35.3	2008-02-05	2007-08-14		ENSG00000169220	ENSG00000169220		"""Regulators of G-protein signaling"""	9996	protein-coding gene	gene with protein product		602513	"""regulator of G-protein signalling 14"""				Standard	NM_006480		Approved		uc003mgf.3	O43566	OTTHUMG00000163324	ENST00000408923.3:c.856C>T	5.37:g.176795724C>T	ENSP00000386229:p.Arg286Trp		OREG0017086	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1933	RGS14_uc003mgg.1_Missense_Mutation_p.R133W|RGS14_uc003mgh.2_Missense_Mutation_p.R133W|RGS14_uc003mgi.2_Missense_Mutation_p.R56W|RGS14_uc003mgj.2_5'Flank	p.R286W	NM_006480	NP_006471	O43566	RGS14_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		9	1038	+	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	286					O43565|Q506M1|Q6ZWA4|Q8TD62	Missense_Mutation	SNP	ENST00000408923.3	37	c.856C>T	CCDS43405.1	.	.	.	.	.	.	.	.	.	.	C	16.09	3.025567	0.54683	.	.	ENSG00000169220	ENST00000408923;ENST00000336477	T	0.42513	0.97	4.06	1.08	0.20341	.	0.069401	0.56097	D	0.000021	T	0.54498	0.1862	L	0.56769	1.78	0.39178	D	0.962721	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.79108	0.986;0.992;0.971;0.982	T	0.54583	-0.8272	10	0.87932	D	0	-24.3752	8.6424	0.33985	0.4396:0.418:0.1424:0.0	.	56;133;133;286	B3KUX0;O43566-5;O43566-4;O43566	.;.;.;RGS14_HUMAN	W	286;66	ENSP00000386229:R286W	ENSP00000336864:R66W	R	+	1	2	RGS14	176728330	0.304000	0.24472	0.999000	0.59377	0.717000	0.41224	0.595000	0.24029	0.002000	0.14630	0.561000	0.74099	CGG		0.582	RGS14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372676.1	NM_006480		5	23	0	0	0	0.00308	0	5	23				
DUSP22	56940	broad.mit.edu	37	6	348818	348818	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr6:348818C>A	ENST00000344450.5	+	7	928	c.485C>A	c.(484-486)gCa>gAa	p.A162E	DUSP22_ENST00000605035.1_3'UTR|DUSP22_ENST00000419235.2_Missense_Mutation_p.A162E|DUSP22_ENST00000603453.1_Missense_Mutation_p.A59E|DUSP22_ENST00000605315.1_Missense_Mutation_p.A59E|DUSP22_ENST00000604971.1_Missense_Mutation_p.A59E	NM_020185.3	NP_064570.1	Q9NRW4	DUS22_HUMAN	dual specificity phosphatase 22	162					apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|inactivation of MAPK activity (GO:0000188)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of JNK cascade (GO:0046330)|protein dephosphorylation (GO:0006470)|regulation of cell proliferation (GO:0042127)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.A162V(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(2)	26	all_hematologic(77;0.228)	Breast(5;0.0249)|all_hematologic(90;0.0489)		OV - Ovarian serous cystadenocarcinoma(45;0.0277)|BRCA - Breast invasive adenocarcinoma(62;0.0669)		TTGCAGGATGCAGAAGAAGCC	0.557																																							uc003msx.2		NA																	1	Substitution - Missense(1)	p.A162V(1)	ovary(1)	ovary(1)|kidney(1)|central_nervous_system(1)	3						c.(484-486)GCA>GAA		dual specificity phosphatase 22							133.0	121.0	125.0					6																	348818		2203	4300	6503	SO:0001583	missense	56940				apoptosis|cell proliferation|inactivation of MAPK activity|multicellular organismal development|positive regulation of JNK cascade|regulation of cell proliferation|transforming growth factor beta receptor signaling pathway	cytoplasm|nucleus	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr6:348818C>A	AF165519	CCDS4468.1, CCDS69035.1	6p25.3	2013-09-19			ENSG00000112679	ENSG00000112679		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"""	16077	protein-coding gene	gene with protein product						9205128, 11717427	Standard	NM_001286555		Approved	MKPX, JSP1, JKAP, VHX	uc003msx.3	Q9NRW4	OTTHUMG00000014113	ENST00000344450.5:c.485C>A	6.37:g.348818C>A	ENSP00000345281:p.Ala162Glu					DUSP22_uc011dhn.1_Missense_Mutation_p.A162E|DUSP22_uc003msy.1_Missense_Mutation_p.A119E	p.A162E	NM_020185	NP_064570	Q9NRW4	DUS22_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.0277)|BRCA - Breast invasive adenocarcinoma(62;0.0669)	7	924	+	all_hematologic(77;0.228)	Breast(5;0.0249)|all_hematologic(90;0.0489)	162					B4DK56|Q59GW2|Q5VWR2|Q96AR1	Missense_Mutation	SNP	ENST00000344450.5	37	c.485C>A	CCDS4468.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	3.698|3.698	-0.062076|-0.062076	0.07317|0.07317	.|.	.|.	ENSG00000112679|ENSG00000112679	ENST00000344450|ENST00000419235	T|.	0.04015|.	3.73|.	4.8|4.8	3.94|3.94	0.45596|0.45596	.|.	0.457704|.	0.22127|.	N|.	0.064244|.	T|.	0.08268|.	0.0206|.	N|N	0.17312|0.17312	0.475|0.475	0.28227|0.28227	N|N	0.926267|0.926267	B;B;B|.	0.06786|.	0.001;0.0;0.001|.	B;B;B|.	0.09377|.	0.004;0.0;0.001|.	T|.	0.23084|.	-1.0198|.	10|.	0.02654|.	T|.	1|.	.|.	4.1756|4.1756	0.10349|0.10349	0.3106:0.5081:0.0:0.1813|0.3106:0.5081:0.0:0.1813	.|.	162;119;162|.	Q9NRW4-2;B3KSA8;Q9NRW4|.	.;.;DUS22_HUMAN|.	E|X	162|99	ENSP00000345281:A162E|.	ENSP00000345281:A162E|.	A|C	+|+	2|3	0|2	DUSP22|DUSP22	293818|293818	0.579000|0.579000	0.26725|0.26725	0.979000|0.979000	0.43373|0.43373	0.976000|0.976000	0.68499|0.68499	1.021000|1.021000	0.30040|0.30040	1.141000|1.141000	0.42275|0.42275	0.655000|0.655000	0.94253|0.94253	GCA|TGC		0.557	DUSP22-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000039621.1	NM_020185		9	102	1	0	9.70103e-10	0.008291	1.1908e-09	9	102				
F13A1	2162	broad.mit.edu	37	6	6251148	6251148	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr6:6251148G>T	ENST00000264870.3	-	5	851	c.586C>A	c.(586-588)Ctg>Atg	p.L196M		NM_000129.3	NP_000120.2	P00488	F13A_HUMAN	coagulation factor XIII, A1 polypeptide	196					blood coagulation (GO:0007596)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|platelet alpha granule lumen (GO:0031093)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	TCATTGTCCAGATACACAGCA	0.388																																							uc003mwv.2		NA																	0				ovary(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|pancreas(1)|skin(1)	6						c.(586-588)CTG>ATG		coagulation factor XIII A1 subunit precursor	L-Glutamine(DB00130)						209.0	195.0	199.0					6																	6251148		2203	4300	6503	SO:0001583	missense	2162				peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	g.chr6:6251148G>T	M14539	CCDS4496.1	6p24.2-p23	2014-01-24			ENSG00000124491	ENSG00000124491		"""Transglutaminases"""	3531	protein-coding gene	gene with protein product		134570		F13A			Standard	NM_000129		Approved		uc003mwv.3	P00488	OTTHUMG00000014186	ENST00000264870.3:c.586C>A	6.37:g.6251148G>T	ENSP00000264870:p.Leu196Met					F13A1_uc011dib.1_Missense_Mutation_p.L133M	p.L196M	NM_000129	NP_000120	P00488	F13A_HUMAN			5	709	-	Ovarian(93;0.0816)	all_hematologic(90;0.152)	196					Q59HA7|Q8N6X2|Q96P24|Q9BX29	Missense_Mutation	SNP	ENST00000264870.3	37	c.586C>A	CCDS4496.1	.	.	.	.	.	.	.	.	.	.	G	13.03	2.114535	0.37339	.	.	ENSG00000124491	ENST00000264870;ENST00000441301	D	0.85088	-1.94	5.9	5.9	0.94986	.	0.000000	0.64402	D	0.000001	T	0.69672	0.3137	N	0.20766	0.605	0.58432	D	0.999991	D;P	0.53462	0.96;0.851	B;B	0.44278	0.445;0.336	T	0.72004	-0.4421	10	0.31617	T	0.26	.	14.1421	0.65327	0.0:0.0:0.8503:0.1497	.	133;196	F5H080;P00488	.;F13A_HUMAN	M	196;133	ENSP00000264870:L196M	ENSP00000264870:L196M	L	-	1	2	F13A1	6196147	1.000000	0.71417	1.000000	0.80357	0.817000	0.46193	1.620000	0.36976	2.788000	0.95919	0.650000	0.86243	CTG		0.388	F13A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039756.3	NM_000129		39	168	1	0	3.54909e-21	0.002852	5.14516e-21	39	168				
TFAP2A	7020	broad.mit.edu	37	6	10404842	10404842	+	Silent	SNP	G	G	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr6:10404842G>T	ENST00000482890.1	-	5	1015	c.663C>A	c.(661-663)ctC>ctA	p.L221L	TFAP2A_ENST00000379608.3_Silent_p.L215L|TFAP2A_ENST00000379604.2_Silent_p.L221L|TFAP2A_ENST00000497266.1_5'UTR|TFAP2A_ENST00000319516.4_Silent_p.L217L|TFAP2A_ENST00000379613.3_Silent_p.L223L			P05549	AP2A_HUMAN	transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)	221					anterior neuropore closure (GO:0021506)|basement membrane organization (GO:0071711)|bone morphogenesis (GO:0060349)|cellular response to iron ion (GO:0071281)|cornea development in camera-type eye (GO:0061303)|embryonic body morphogenesis (GO:0010172)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic forelimb morphogenesis (GO:0035115)|embryonic pattern specification (GO:0009880)|epidermis morphogenesis (GO:0048730)|eyelid development in camera-type eye (GO:0061029)|face morphogenesis (GO:0060325)|forebrain neuron development (GO:0021884)|inner ear morphogenesis (GO:0042472)|keratinocyte development (GO:0003334)|kidney development (GO:0001822)|lens induction in camera-type eye (GO:0060235)|metanephric nephron development (GO:0072210)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription by competitive promoter binding (GO:0010944)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural crest cell development (GO:0014032)|oculomotor nerve formation (GO:0021623)|optic cup structural organization (GO:0003409)|optic vesicle morphogenesis (GO:0003404)|outflow tract morphogenesis (GO:0003151)|palate development (GO:0060021)|positive regulation of bone mineralization (GO:0030501)|positive regulation of cell migration (GO:0030335)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of tooth mineralization (GO:0070172)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell differentiation (GO:0045595)|regulation of neuron differentiation (GO:0045664)|retina layer formation (GO:0010842)|sensory perception of sound (GO:0007605)|sympathetic nervous system development (GO:0048485)|transcription from RNA polymerase II promoter (GO:0006366)|trigeminal nerve development (GO:0021559)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|protein dimerization activity (GO:0046983)|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 (GO:0000982)|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)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			breast(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	13	Breast(50;0.0427)|Ovarian(93;0.0991)	all_hematologic(90;0.107)				AGGTGGAGCTGAGGAGCGAGA	0.622																																							uc003myr.2		NA																	0				ovary(1)	1						c.(661-663)CTC>CTA		transcription factor AP-2 alpha isoform a							61.0	56.0	58.0					6																	10404842		2203	4300	6503	SO:0001819	synonymous_variant	7020				ectoderm development|positive regulation of bone mineralization|positive regulation of tooth mineralization|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	centrosome|Golgi apparatus|nucleus	chromatin binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding	g.chr6:10404842G>T	X52611	CCDS4510.1, CCDS34337.1, CCDS43422.1	6p24.3	2013-09-19	2001-11-28		ENSG00000137203	ENSG00000137203			11742	protein-coding gene	gene with protein product		107580	"""transcription factor AP-2 alpha (activating enhancer-binding protein 2 alpha)"""	TFAP2, AP2TF		1916817, 3063603	Standard	NM_001032280		Approved	AP-2	uc003myr.3	P05549	OTTHUMG00000014235	ENST00000482890.1:c.663C>A	6.37:g.10404842G>T						TFAP2A_uc003myq.2_Silent_p.L215L|TFAP2A_uc003mys.2_RNA|TFAP2A_uc011dih.1_Silent_p.L221L|TFAP2A_uc003myt.2_Silent_p.L217L|TFAP2A_uc003myu.1_Silent_p.L221L	p.L221L	NM_003220	NP_003211	P05549	AP2A_HUMAN			4	915	-	Breast(50;0.0427)|Ovarian(93;0.0991)	all_hematologic(90;0.107)	221					Q13777|Q5TAV5|Q8N1C6	Silent	SNP	ENST00000482890.1	37	c.663C>A	CCDS4510.1	.	.	.	.	.	.	.	.	.	.	G	11.95	1.792767	0.31685	.	.	ENSG00000137203	ENST00000475264	.	.	.	5.47	4.59	0.56863	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-12.7551	14.3161	0.66452	0.0735:0.0:0.9265:0.0	.	.	.	.	X	126	.	.	S	-	2	0	TFAP2A	10512828	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.236000	0.51336	2.558000	0.86282	0.655000	0.94253	TCA		0.622	TFAP2A-007	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000353619.2	NM_003220		15	65	1	0	1.02788e-11	0.00499	1.30786e-11	15	65				
HIVEP1	3096	broad.mit.edu	37	6	12163672	12163672	+	Missense_Mutation	SNP	C	C	G			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr6:12163672C>G	ENST00000379388.2	+	9	7467	c.7135C>G	c.(7135-7137)Cat>Gat	p.H2379D	HIVEP1_ENST00000541134.1_Missense_Mutation_p.H244D	NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	2379					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				TCCCCACACTCATTTGTTTAG	0.532																																							uc003nac.2		NA																	0				ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1)	6						c.(7135-7137)CAT>GAT		human immunodeficiency virus type I enhancer							97.0	103.0	101.0					6																	12163672		2074	4228	6302	SO:0001583	missense	3096				transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding	g.chr6:12163672C>G	J05011	CCDS43426.1	6p24-p22.3	2012-10-05	2001-11-28		ENSG00000095951	ENSG00000095951		"""Zinc fingers, C2H2-type"""	4920	protein-coding gene	gene with protein product		194540	"""human immunodeficiency virus type I enhancer-binding protein 1"", ""zinc finger protein 40"""	ZNF40		2037300	Standard	XR_241895		Approved	CIRIP, MBP-1, CRYBP1, PRDII-BF1, ZAS1, Schnurri-1, ZNF40A	uc003nac.3	P15822	OTTHUMG00000014265	ENST00000379388.2:c.7135C>G	6.37:g.12163672C>G	ENSP00000368698:p.His2379Asp					HIVEP1_uc011diq.1_RNA	p.H2379D	NM_002114	NP_002105	P15822	ZEP1_HUMAN			9	7314	+	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)	2379					B2RTU3|Q14122|Q5MPB1|Q5VW60	Missense_Mutation	SNP	ENST00000379388.2	37	c.7135C>G	CCDS43426.1	.	.	.	.	.	.	.	.	.	.	C	18.65	3.668851	0.67814	.	.	ENSG00000095951	ENST00000379388;ENST00000541134;ENST00000542327	T;T	0.34667	2.88;1.35	6.03	6.03	0.97812	.	0.000000	0.35179	N	0.003387	T	0.54111	0.1838	M	0.70275	2.135	0.80722	D	1	D	0.64830	0.994	D	0.63113	0.911	T	0.54153	-0.8336	10	0.72032	D	0.01	-11.2252	20.5666	0.99351	0.0:1.0:0.0:0.0	.	2379	P15822	ZEP1_HUMAN	D	2379;244;361	ENSP00000368698:H2379D;ENSP00000445617:H244D	ENSP00000368698:H2379D	H	+	1	0	HIVEP1	12271658	1.000000	0.71417	0.018000	0.16275	0.226000	0.24999	7.148000	0.77389	2.854000	0.98071	0.655000	0.94253	CAT		0.532	HIVEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039870.2	NM_002114		18	82	0	0	0	0.008871	0	18	82				
HIST1H2AC	8334	broad.mit.edu	37	6	26124824	26124824	+	Missense_Mutation	SNP	G	G	C			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr6:26124824G>C	ENST00000602637.1	+	1	394	c.364G>C	c.(364-366)Gag>Cag	p.E122Q	HIST1H2BC_ENST00000396984.1_5'Flank|HIST1H2AC_ENST00000377791.2_Missense_Mutation_p.E122Q|HIST1H2BC_ENST00000314332.5_5'Flank			Q93077	H2A1C_HUMAN	histone cluster 1, H2ac	122						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|lung(5)	12						TAAGAAGACCGAGAGTCACCA	0.562																																							uc003ngm.2		NA																	0					0						c.(364-366)GAG>CAG		histone cluster 1, H2ac							74.0	75.0	74.0					6																	26124824		2203	4300	6503	SO:0001583	missense	8334				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:26124824G>C	Z80778	CCDS4585.1	6p22.1	2011-01-27	2006-10-11	2003-02-21	ENSG00000180573	ENSG00000180573		"""Histones / Replication-dependent"""	4733	protein-coding gene	gene with protein product		602794	"""H2A histone family, member L"", ""histone 1, H2ac"""	H2AFL		9119399, 12408966	Standard	NM_003512		Approved		uc003ngm.3	Q93077	OTTHUMG00000014428	ENST00000602637.1:c.364G>C	6.37:g.26124824G>C	ENSP00000473534:p.Glu122Gln					HIST1H2BC_uc003ngk.3_5'Flank|HIST1H2BC_uc003ngl.2_5'Flank|HIST1H2AC_uc003ngn.2_RNA|HIST1H2AC_uc003ngo.2_RNA|HIST1H2AC_uc003ngp.2_Missense_Mutation_p.E122Q	p.E122Q	NM_003512	NP_003503	Q93077	H2A1C_HUMAN			1	452	+			122					B2R4F7|O00775|O00776|O00777|O00778|Q540R1	Missense_Mutation	SNP	ENST00000602637.1	37	c.364G>C	CCDS4585.1	.	.	.	.	.	.	.	.	.	.	.	14.65	2.597984	0.46318	.	.	ENSG00000180573	ENST00000377791;ENST00000314088	T;T	0.42513	0.97;0.97	5.5	5.5	0.81552	Histone-fold (2);Histone H2A (1);	0.000000	0.44902	D	0.000401	T	0.21267	0.0512	L	0.28344	0.845	0.44816	D	0.997829	B	0.06786	0.001	B	0.04013	0.001	T	0.02064	-1.1220	10	0.38643	T	0.18	.	18.7477	0.91800	0.0:0.0:1.0:0.0	.	122	Q93077	H2A1C_HUMAN	Q	122	ENSP00000367022:E122Q;ENSP00000321389:E122Q	ENSP00000321389:E122Q	E	+	1	0	HIST1H2AC	26232803	1.000000	0.71417	1.000000	0.80357	0.578000	0.36192	9.355000	0.97087	2.750000	0.94351	0.467000	0.42956	GAG		0.562	HIST1H2AC-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000468023.1	NM_003512		14	47	0	0	0	0.006122	0	14	47				
BTN1A1	696	broad.mit.edu	37	6	26502076	26502076	+	Missense_Mutation	SNP	G	G	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr6:26502076G>A	ENST00000244513.6	+	2	404	c.338G>A	c.(337-339)gGc>gAc	p.G113D		NM_001732.2	NP_001723.2	Q13410	BT1A1_HUMAN	butyrophilin, subfamily 1, member A1	113	Ig-like V-type 1.					extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)	receptor activity (GO:0004872)			endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(1)	26						AGGATCCGTGGCGTCAGAGTC	0.647																																							uc003nif.3		NA																	0				ovary(1)|skin(1)	2						c.(337-339)GGC>GAC		butyrophilin, subfamily 1, member A1 precursor							36.0	38.0	37.0					6																	26502076		2199	4298	6497	SO:0001583	missense	696					extracellular region|integral to plasma membrane	receptor activity	g.chr6:26502076G>A	U39576	CCDS4614.1	6p22.1	2014-01-14			ENSG00000124557	ENSG00000124557		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Butyrophilins"""	1135	protein-coding gene	gene with protein product		601610		BTN		8114113, 9382921	Standard	NM_001732		Approved	BT, BTN1	uc003nif.4	Q13410	OTTHUMG00000016358	ENST00000244513.6:c.338G>A	6.37:g.26502076G>A	ENSP00000244513:p.Gly113Asp						p.G113D	NM_001732	NP_001723	Q13410	BT1A1_HUMAN			2	358	+			113			Extracellular (Potential).|Ig-like V-type 1.		Q4VAN3|Q4VAN4|Q9H458	Missense_Mutation	SNP	ENST00000244513.6	37	c.338G>A	CCDS4614.1	.	.	.	.	.	.	.	.	.	.	G	13.30	2.196460	0.38806	.	.	ENSG00000124557	ENST00000244513;ENST00000377586	T	0.02395	4.31	6.08	-3.95	0.04118	Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin V-set, subgroup (1);Immunoglobulin-like fold (1);	1.342310	0.04574	N	0.393802	T	0.00608	0.0020	N	0.11131	0.1	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.49041	-0.8980	10	0.39692	T	0.17	.	9.0815	0.36554	0.2377:0.5774:0.1849:0.0	.	113	Q13410	BT1A1_HUMAN	D	113	ENSP00000244513:G113D	ENSP00000244513:G113D	G	+	2	0	BTN1A1	26610055	0.000000	0.05858	0.000000	0.03702	0.038000	0.13279	-1.741000	0.01837	-0.341000	0.08376	0.655000	0.94253	GGC		0.647	BTN1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043776.1	NM_001732		15	55	0	0	0	0.006122	0	15	55				
ABT1	29777	broad.mit.edu	37	6	26598252	26598252	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr6:26598252G>T	ENST00000274849.1	+	2	383	c.352G>T	c.(352-354)Gcc>Tcc	p.A118S		NM_013375.3	NP_037507.1	Q9ULW3	ABT1_HUMAN	activator of basal transcription 1	118	RRM.				regulation of transcription from RNA polymerase II promoter (GO:0006357)|spinal cord motor neuron differentiation (GO:0021522)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1)	11						CAAGCGCATAGCCAAGCGCGT	0.577																																							uc003nii.2		NA																	0		p.A118A(1)		ovary(1)	1						c.(352-354)GCC>TCC		activator of basal transcription 1							62.0	56.0	58.0					6																	26598252		2203	4300	6503	SO:0001583	missense	29777				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleolus	DNA binding|nucleotide binding|protein binding|RNA binding|transcription coactivator activity	g.chr6:26598252G>T	AB027258	CCDS4616.1	6p21.31	2008-07-07			ENSG00000146109	ENSG00000146109			17369	protein-coding gene	gene with protein product						10648625	Standard	NM_013375		Approved		uc003nii.3	Q9ULW3	OTTHUMG00000016319	ENST00000274849.1:c.352G>T	6.37:g.26598252G>T	ENSP00000274849:p.Ala118Ser						p.A118S	NM_013375	NP_037507	Q9ULW3	ABT1_HUMAN			2	383	+			118			RRM.			Missense_Mutation	SNP	ENST00000274849.1	37	c.352G>T	CCDS4616.1	.	.	.	.	.	.	.	.	.	.	G	35	5.516511	0.96402	.	.	ENSG00000146109	ENST00000274849	T	0.62498	0.02	5.23	5.23	0.72850	Nucleotide-binding, alpha-beta plait (1);	0.000000	0.85682	D	0.000000	D	0.82939	0.5146	H	0.95679	3.705	0.80722	D	1	D	0.89917	1.0	D	0.71656	0.974	D	0.87747	0.2589	10	0.87932	D	0	-29.1396	16.6701	0.85263	0.0:0.0:1.0:0.0	.	118	Q9ULW3	ABT1_HUMAN	S	118	ENSP00000274849:A118S	ENSP00000274849:A118S	A	+	1	0	ABT1	26706231	1.000000	0.71417	0.962000	0.40283	0.958000	0.62258	8.296000	0.89940	2.629000	0.89072	0.563000	0.77884	GCC		0.577	ABT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043698.1			8	35	1	0	0.00621372	0.006214	0.00649704	8	35				
OR10C1	442194	broad.mit.edu	37	6	29408157	29408157	+	Missense_Mutation	SNP	A	A	G			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr6:29408157A>G	ENST00000444197.2	+	1	1075	c.365A>G	c.(364-366)tAt>tGt	p.Y122C	OR11A1_ENST00000377149.1_Intron	NM_013941.3	NP_039229.3	Q96KK4	O10C1_HUMAN	olfactory receptor, family 10, subfamily C, member 1 (gene/pseudogene)	122						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|kidney(1)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						TATGACCGCTATGCAGCCATC	0.627																																							uc011dlp.1		NA																	0					0						c.(364-366)TAT>TGT		olfactory receptor, family 10, subfamily C,							64.0	69.0	67.0					6																	29408157		1510	2708	4218	SO:0001583	missense	442194				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:29408157A>G		CCDS34364.1	6p22.2-p21.31	2013-10-10	2013-10-10		ENSG00000206474	ENSG00000206474		"""GPCR / Class A : Olfactory receptors"""	8165	protein-coding gene	gene with protein product			"""olfactory receptor, family 10, subfamily C, member 2"", ""olfactory receptor, family 10, subfamily C, member 1"""	OR10C2			Standard	NM_013941		Approved	hs6M1-17, OR10C1P	uc011dlp.2	Q96KK4	OTTHUMG00000031207	ENST00000444197.2:c.365A>G	6.37:g.29408157A>G	ENSP00000419119:p.Tyr122Cys					OR11A1_uc010jrh.1_Intron	p.Y122C	NM_013941	NP_039229	Q96KK4	O10C1_HUMAN			1	365	+			122			Cytoplasmic (Potential).		Q5SUN7|Q96R18	Missense_Mutation	SNP	ENST00000444197.2	37	c.365A>G	CCDS34364.1	.	.	.	.	.	.	.	.	.	.	A	12.32	1.903571	0.33628	.	.	ENSG00000206474	ENST00000444197	T	0.02121	4.44	3.24	3.24	0.37175	GPCR, rhodopsin-like superfamily (1);	0.000000	0.35585	N	0.003116	T	0.02888	0.0086	M	0.87328	2.875	0.38111	D	0.937563	P	0.38078	0.617	B	0.42738	0.396	T	0.05241	-1.0897	10	0.66056	D	0.02	.	8.1041	0.30874	0.8196:0.0:0.0:0.1804	.	122	Q96KK4	O10C1_HUMAN	C	122	ENSP00000419119:Y122C	ENSP00000419119:Y122C	Y	+	2	0	OR10C1	29516136	0.989000	0.36119	0.880000	0.34516	0.401000	0.30781	3.172000	0.50832	1.477000	0.48234	0.329000	0.21502	TAT		0.627	OR10C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076415.2			12	40	0	0	0	0.00245	0	12	40				
ZNRD1-AS1	80862	broad.mit.edu	37	6	29977342	29977342	+	RNA	SNP	A	A	T	rs113017032	byFrequency	TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr6:29977342A>T	ENST00000376797.3	-	0	731				HLA-J_ENST00000462773.1_RNA|ZNRD1-AS1_ENST00000420251.1_RNA|ZNRD1-AS1_ENST00000448093.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA|ZNRD1-AS1_ENST00000444051.1_RNA			Q2KJ03	ZRAS1_HUMAN	ZNRD1 antisense RNA 1																		TGGGACTGAGAGGCAAGATTT	0.438													A|||	16	0.00319489	0.003	0.0029	5008	,	,		21762	0.0		0.003	False		,,,				2504	0.0072						uc003rtl.3		NA																	0					0						c.(361-363)AGG>TGG		Homo sapiens major histocompatibility complex, class I, J (pseudogene), mRNA (cDNA clone IMAGE:4694038).																																						3137							g.chr6:29977342A>T	AF032110		6p21.33	2014-08-14	2012-08-15	2010-11-25	ENSG00000204623	ENSG00000204623		"""Long non-coding RNAs"""	13924	non-coding RNA	RNA, long non-coding		615714	"""chromosome 6 open reading frame 12"", ""non-protein coding RNA 171"", ""ZNRD1 antisense RNA (non-protein coding)"", ""ZNRD1 antisense RNA 1 (non-protein coding)"""	C6orf12, NCRNA00171, ZNRD1AS, ZNRD1-AS		9553157, 11130983, 25110835	Standard	NR_026751		Approved	HTEX4, Em:AB023056.3	uc003rto.3	Q2KJ03	OTTHUMG00000031109		6.37:g.29977342A>T						HLA-G_uc011dmb.1_3'UTR|NCRNA00171_uc011dme.1_Intron|HLA-J_uc003nou.3_RNA|HLA-J_uc003nov.3_RNA	p.R121W							5	723	+									Missense_Mutation	SNP	ENST00000376797.3	37	c.361A>T																																																																																					0.438	ZNRD1-AS1-006	KNOWN	basic|exp_conf	antisense	antisense	OTTHUMT00000253083.1	NR_026751		3	45	0	0	0	0.001168	0	3	45				
TRIM31	11074	broad.mit.edu	37	6	30071355	30071355	+	Silent	SNP	C	C	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr6:30071355C>T	ENST00000376734.3	-	9	1361	c.1236G>A	c.(1234-1236)ctG>ctA	p.L412L	TRIM31-AS1_ENST00000440874.1_RNA|TRIM31_ENST00000540829.1_Silent_p.L412L|TRIM31_ENST00000485864.1_5'Flank	NM_007028.3	NP_008959.3	Q9BZY9	TRI31_HUMAN	tripartite motif containing 31	412					innate immune response (GO:0045087)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral transcription (GO:0032897)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein ubiquitination (GO:0016567)|regulation of viral release from host cell (GO:1902186)	mitochondrion (GO:0005739)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(2)	15						GGATCGCTGTCAGCCACTCAC	0.552																																							uc003npg.1		NA																	0				lung(1)	1						c.(1234-1236)CTG>CTA		tripartite motif protein 31							133.0	143.0	139.0					6																	30071355		1510	2709	4219	SO:0001819	synonymous_variant	11074					mitochondrion	ligase activity|zinc ion binding	g.chr6:30071355C>T	AF230386	CCDS34374.1	6p21.3	2013-01-09	2011-01-25		ENSG00000204616	ENSG00000204616		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	16289	protein-coding gene	gene with protein product		609316	"""tripartite motif-containing 31"""			11331580	Standard	XM_006714977		Approved	RNF, HCGI, C6orf13, HCG1	uc003npg.1	Q9BZY9	OTTHUMG00000031064	ENST00000376734.3:c.1236G>A	6.37:g.30071355C>T						TRIM31_uc003npi.3_RNA	p.L412L	NM_007028	NP_008959	Q9BZY9	TRI31_HUMAN			9	1346	-			412					A6NLX6|A9R9Q4|Q53H52|Q5RI37|Q5SRJ7|Q5SRJ8|Q5SS28|Q96AK4|Q96AP8|Q99579|Q9BZY8	Silent	SNP	ENST00000376734.3	37	c.1236G>A	CCDS34374.1																																																																																				0.552	TRIM31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076081.2			15	101	0	0	0	0.006122	0	15	101				
APOM	55937	broad.mit.edu	37	6	31625865	31625865	+	Silent	SNP	G	G	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr6:31625865G>A	ENST00000375916.3	+	6	1062	c.566G>A	c.(565-567)tGa>tAa	p.*189*	C6orf47-AS1_ENST00000422049.1_RNA|APOM_ENST00000375920.4_Silent_p.*117*	NM_019101.2	NP_061974.2	O95445	APOM_HUMAN	apolipoprotein M	0					cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|high-density lipoprotein particle assembly (GO:0034380)|high-density lipoprotein particle clearance (GO:0034384)|high-density lipoprotein particle remodeling (GO:0034375)|lipoprotein metabolic process (GO:0042157)|negative regulation of plasma lipoprotein particle oxidation (GO:0034445)|response to glucose (GO:0009749)|reverse cholesterol transport (GO:0043691)	discoidal high-density lipoprotein particle (GO:0034365)|extracellular vesicular exosome (GO:0070062)|high-density lipoprotein particle (GO:0034364)|integral component of plasma membrane (GO:0005887)|low-density lipoprotein particle (GO:0034362)|spherical high-density lipoprotein particle (GO:0034366)|very-low-density lipoprotein particle (GO:0034361)	antioxidant activity (GO:0016209)|lipid transporter activity (GO:0005319)|phospholipid binding (GO:0005543)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(1)	7						TCCAATAACTGACCTGTAACT	0.502																																					Colon(39;129 858 13764 41453 42617)	Colon(39;129 858 13764 41453 42617)	uc003nvl.2		NA																	0					0						c.(565-567)TGA>TAA		apolipoprotein M							175.0	165.0	168.0					6																	31625865		2203	4300	6503	SO:0001819	synonymous_variant	55937				cholesterol efflux|high-density lipoprotein particle assembly|high-density lipoprotein particle clearance|high-density lipoprotein particle remodeling|negative regulation of plasma lipoprotein particle oxidation|reverse cholesterol transport	discoidal high-density lipoprotein particle|integral to plasma membrane|low-density lipoprotein particle|spherical high-density lipoprotein particle|very-low-density lipoprotein particle	binding|lipid transporter activity	g.chr6:31625865G>A	AJ245434	CCDS4710.1, CCDS59004.1	6p21	2014-01-22			ENSG00000204444	ENSG00000204444		"""Apolipoproteins"", ""Lipocalins"""	13916	protein-coding gene	gene with protein product		606907				10531326, 11418126	Standard	NM_019101		Approved	ApoM, G3a, NG20	uc003nvl.3	O95445	OTTHUMG00000031250	ENST00000375916.3:c.566G>A	6.37:g.31625865G>A						APOM_uc003nvk.2_Silent_p.*117*	p.*189*	NM_019101	NP_061974	O95445	APOM_HUMAN			6	639	+			189					B0UX98|Q5SRP4|Q9P046|Q9UMP6	Silent	SNP	ENST00000375916.3	37	c.566G>A	CCDS4710.1																																																																																				0.502	APOM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076527.3	NM_019101		18	123	0	0	0	0.001882	0	18	123				
SCUBE3	222663	broad.mit.edu	37	6	35209366	35209366	+	Silent	SNP	C	C	G			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr6:35209366C>G	ENST00000274938.7	+	11	1242	c.1242C>G	c.(1240-1242)ctC>ctG	p.L414L	SCUBE3_ENST00000394681.1_Silent_p.L430L	NM_152753.2	NP_689966.2			signal peptide, CUB domain, EGF-like 3											breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	37						AAGCCATGCTCAGCTGCAACC	0.582											OREG0017372	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc003okf.1		NA																	0				skin(1)	1						c.(1240-1242)CTC>CTG		signal peptide, CUB domain, EGF-like 3							102.0	100.0	101.0					6																	35209366		2203	4300	6503	SO:0001819	synonymous_variant	222663				protein heterooligomerization|protein homooligomerization	cell surface|extracellular region	calcium ion binding|protein binding	g.chr6:35209366C>G	AF452494.1	CCDS4800.1	6p21.3	2008-02-05	2004-05-19	2004-05-21		ENSG00000146197			13655	protein-coding gene	gene with protein product		614708	"""CUB domain and EGF-like repeat containing 3"""	CEGF3		12270931	Standard	NM_152753		Approved	FLJ34743	uc003okf.1	Q8IX30		ENST00000274938.7:c.1242C>G	6.37:g.35209366C>G			OREG0017372	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	853	SCUBE3_uc003okg.1_Silent_p.L413L|SCUBE3_uc003okh.1_Silent_p.L301L	p.L414L	NM_152753	NP_689966	Q8IX30	SCUB3_HUMAN			11	1248	+			414						Silent	SNP	ENST00000274938.7	37	c.1242C>G	CCDS4800.1																																																																																				0.582	SCUBE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040275.1	NM_152753		10	120	0	0	0	0.000978	0	10	120				
C6orf222	389384	broad.mit.edu	37	6	36294441	36294441	+	Missense_Mutation	SNP	C	C	G			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr6:36294441C>G	ENST00000437635.2	-	5	1059	c.882G>C	c.(880-882)aaG>aaC	p.K294N		NM_001010903.4	NP_001010903.3	P0C671	CF222_HUMAN	chromosome 6 open reading frame 222	294										breast(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|skin(4)|urinary_tract(4)	26						TTGAGGTTCTCTTGAGGCTTG	0.567																																							uc003oly.2		NA																	0				skin(2)|ovary(1)|breast(1)	4						c.(880-882)AAG>AAC		hypothetical protein LOC389384							182.0	191.0	188.0					6																	36294441		2203	4300	6503	SO:0001583	missense	389384							g.chr6:36294441C>G		CCDS34439.1	6p21.31	2012-02-22			ENSG00000189325	ENSG00000189325			33769	protein-coding gene	gene with protein product							Standard	NM_001010903		Approved	DKFZp779B1540	uc003oly.3	P0C671	OTTHUMG00000014591	ENST00000437635.2:c.882G>C	6.37:g.36294441C>G	ENSP00000418983:p.Lys294Asn						p.K294N	NM_001010903	NP_001010903	P0C671	CF222_HUMAN			5	1060	-			294					B2RTY8	Missense_Mutation	SNP	ENST00000437635.2	37	c.882G>C	CCDS34439.1	.	.	.	.	.	.	.	.	.	.	C	14.57	2.575115	0.45902	.	.	ENSG00000189325	ENST00000437635	T	0.55234	0.53	3.66	3.66	0.41972	.	0.469318	0.18412	N	0.142016	T	0.59266	0.2181	M	0.74881	2.28	0.09310	N	1	D	0.71674	0.998	D	0.66979	0.948	T	0.48811	-0.9002	10	0.72032	D	0.01	-9.88	11.1721	0.48577	0.0:1.0:0.0:0.0	.	294	P0C671	CF222_HUMAN	N	294	ENSP00000418983:K294N	ENSP00000418983:K294N	K	-	3	2	C6orf222	36402419	0.071000	0.21146	0.043000	0.18650	0.007000	0.05969	1.587000	0.36622	2.337000	0.79520	0.462000	0.41574	AAG		0.567	C6orf222-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040338.2	NM_001010903		32	270	0	0	0	0.002836	0	32	270				
DNAH8	1769	broad.mit.edu	37	6	38705690	38705690	+	Missense_Mutation	SNP	C	C	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr6:38705690C>T	ENST00000359357.3	+	5	661	c.407C>T	c.(406-408)tCa>tTa	p.S136L	DNAH8_ENST00000441566.1_Missense_Mutation_p.S136L|DNAH8_ENST00000449981.2_Missense_Mutation_p.S353L			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	136					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						GCCAGCAACTCAGAAACTGTT	0.393																																							uc003ooe.1		NA																	0				skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	21						c.(406-408)TCA>TTA		dynein, axonemal, heavy polypeptide 8							132.0	131.0	131.0					6																	38705690		2203	4300	6503	SO:0001583	missense	1769							g.chr6:38705690C>T	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.407C>T	6.37:g.38705690C>T	ENSP00000352312:p.Ser136Leu						p.S136L	NM_001371	NP_001362					5	1007	+								O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Missense_Mutation	SNP	ENST00000359357.3	37	c.407C>T		.	.	.	.	.	.	.	.	.	.	C	12.01	1.809776	0.31961	.	.	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	T;T;T	0.57436	0.4;0.4;0.4	5.77	5.77	0.91146	Dynein heavy chain, domain-1 (1);	0.651566	0.15151	N	0.277667	T	0.31104	0.0786	L	0.28400	0.85	0.40624	D	0.981797	B	0.19445	0.036	B	0.32928	0.155	T	0.07520	-1.0768	10	0.23302	T	0.38	.	14.6106	0.68514	0.1452:0.8548:0.0:0.0	.	136	Q96JB1	DYH8_HUMAN	L	341;341;136;136	ENSP00000333363:S341L;ENSP00000352312:S136L;ENSP00000402294:S136L	ENSP00000333363:S341L	S	+	2	0	DNAH8	38813668	0.957000	0.32711	0.993000	0.49108	0.800000	0.45204	1.842000	0.39250	2.707000	0.92482	0.650000	0.86243	TCA		0.393	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927		18	304	0	0	0	0.002299	0	18	304				
ZNF318	24149	broad.mit.edu	37	6	43308097	43308097	+	Silent	SNP	T	T	C			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr6:43308097T>C	ENST00000361428.2	-	10	3716	c.3639A>G	c.(3637-3639)aaA>aaG	p.K1213K	ZNF318_ENST00000318149.3_Intron	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	1213	Lys-rich.				meiotic nuclear division (GO:0007126)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			CCTTTTTTTCTTTCTTCTCCT	0.483																																							uc003oux.2		NA																	0				ovary(3)|breast(2)|central_nervous_system(1)|skin(1)	7						c.(3637-3639)AAA>AAG		zinc finger protein 318							162.0	166.0	165.0					6																	43308097		2203	4300	6503	SO:0001819	synonymous_variant	24149				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding	g.chr6:43308097T>C	AF090114	CCDS4895.2	6p21.1	2013-09-19			ENSG00000171467	ENSG00000171467		"""Zinc fingers, C2H2-type"""	13578	protein-coding gene	gene with protein product						10873617	Standard	NM_014345		Approved	HRIHFB2436, ZFP318	uc003oux.3	Q5VUA4	OTTHUMG00000014732	ENST00000361428.2:c.3639A>G	6.37:g.43308097T>C						ZNF318_uc003ouw.2_Intron	p.K1213K	NM_014345	NP_055160	Q5VUA4	ZN318_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)		10	3717	-			1213			Lys-rich.		O94796|Q4G0E4|Q8NEM6|Q9UNU8|Q9Y2W9	Silent	SNP	ENST00000361428.2	37	c.3639A>G	CCDS4895.2																																																																																				0.483	ZNF318-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040601.2	NM_014345		20	98	0	0	0	0.00333	0	20	98				
PLA2G7	7941	broad.mit.edu	37	6	46690628	46690628	+	Start_Codon_SNP	SNP	T	T	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr6:46690628T>A	ENST00000274793.7	-	2	197	c.1A>T	c.(1-3)Atg>Ttg	p.M1L	PLA2G7_ENST00000537365.1_Start_Codon_SNP_p.M1L|PLA2G7_ENST00000538237.1_Intron|PLA2G7_ENST00000541026.1_Intron	NM_005084.3	NP_005075.3	Q13093	PAFA_HUMAN	phospholipase A2, group VII (platelet-activating factor acetylhydrolase, plasma)	1					cellular protein metabolic process (GO:0044267)|lipid catabolic process (GO:0016042)|lipid oxidation (GO:0034440)|low-density lipoprotein particle remodeling (GO:0034374)|plasma lipoprotein particle oxidation (GO:0034441)|positive regulation of inflammatory response (GO:0050729)|positive regulation of monocyte chemotaxis (GO:0090026)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|low-density lipoprotein particle (GO:0034362)	1-alkyl-2-acetylglycerophosphocholine esterase activity (GO:0003847)|calcium-independent phospholipase A2 activity (GO:0047499)|phospholipid binding (GO:0005543)			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|skin(1)|soft_tissue(1)	14			Lung(136;0.192)			GGTGGCACCATCTTGGGAGCT	0.438																																							uc010jzf.2		NA																	0					0						c.(1-3)ATG>TTG		phospholipase A2, group VII							112.0	94.0	100.0					6																	46690628		2203	4300	6503	SO:0001582	initiator_codon_variant	7941				inflammatory response|lipid catabolic process	extracellular space	1-alkyl-2-acetylglycerophosphocholine esterase activity|phospholipid binding	g.chr6:46690628T>A	U20157	CCDS4917.1	6p21.2-p12	2008-09-19			ENSG00000146070	ENSG00000146070	3.1.1.4		9040	protein-coding gene	gene with protein product		601690				7700381, 8624782	Standard	NM_005084		Approved	PAFAH, LDL-PLA2	uc021zae.1	Q13093	OTTHUMG00000014789	ENST00000274793.7:c.1A>T	6.37:g.46690628T>A	ENSP00000274793:p.Met1Leu					PLA2G7_uc010jzg.1_Missense_Mutation_p.M1L|PLA2G7_uc011dwd.1_Intron|PLA2G7_uc011dwe.1_Intron	p.M1L	NM_005084	NP_005075	Q13093	PAFA_HUMAN	Lung(136;0.192)		2	270	-			1					A5HTT5|Q15692|Q5VTT1|Q8IVA2	Missense_Mutation	SNP	ENST00000274793.7	37	c.1A>T	CCDS4917.1	.	.	.	.	.	.	.	.	.	.	T	26.8	4.769513	0.90020	.	.	ENSG00000146070	ENST00000274793;ENST00000537365	T;T	0.39997	1.05;1.05	5.83	5.83	0.93111	.	0.000000	0.64402	D	0.000011	T	0.54711	0.1875	.	.	.	0.80722	D	1	D;D	0.64830	0.994;0.994	D;D	0.70716	0.97;0.97	T	0.60520	-0.7247	9	0.59425	D	0.04	-23.8333	12.5927	0.56451	0.0:0.0:0.0:1.0	.	1;1	A8K2W6;Q13093	.;PAFA_HUMAN	L	1	ENSP00000274793:M1L;ENSP00000445666:M1L	ENSP00000274793:M1L	M	-	1	0	PLA2G7	46798587	1.000000	0.71417	0.998000	0.56505	0.977000	0.68977	3.640000	0.54350	2.235000	0.73313	0.533000	0.62120	ATG		0.438	PLA2G7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040802.1		Missense_Mutation	26	17	0	0	0	0.00632	0	26	17				
GPR115	221393	broad.mit.edu	37	6	47682876	47682876	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr6:47682876C>A	ENST00000283303.2	+	6	2153	c.1895C>A	c.(1894-1896)aCg>aAg	p.T632K	RN7SKP116_ENST00000516902.1_RNA|GPR115_ENST00000327753.3_Missense_Mutation_p.T632K|GPR115_ENST00000371220.1_Missense_Mutation_p.T689K	NM_153838.3	NP_722580.3	Q8IZF3	GP115_HUMAN	G protein-coupled receptor 115	632					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)			NS(1)|breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	52						ACTTCCTTGACGTTCCATATA	0.433																																					GBM(22;431 510 9010 26644 32828)	GBM(22;431 510 9010 26644 32828)	uc003oza.1		NA																	0				ovary(3)|skin(3)|upper_aerodigestive_tract(1)|breast(1)	8						c.(1894-1896)ACG>AAG		G-protein coupled receptor 115 precursor							89.0	84.0	86.0					6																	47682876		2203	4298	6501	SO:0001583	missense	221393				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:47682876C>A	AK095395	CCDS4922.2	6p12.3	2014-08-08			ENSG00000153294	ENSG00000153294		"""-"", ""GPCR / Class B : Orphans"""	19011	protein-coding gene	gene with protein product		614268				12435584	Standard	NM_153838		Approved	FLJ38076, PGR18	uc003oza.1	Q8IZF3	OTTHUMG00000014800	ENST00000283303.2:c.1895C>A	6.37:g.47682876C>A	ENSP00000283303:p.Thr632Lys					GPR115_uc003oyz.1_Missense_Mutation_p.T689K|GPR115_uc003ozb.1_Missense_Mutation_p.T630K	p.T632K	NM_153838	NP_722580	Q8IZF3	GP115_HUMAN			6	2153	+			632			Extracellular (Potential).		B3KTD0|Q2PNZ0|Q5T5B5|Q5T5B6|Q86SN9|Q8IXE6	Missense_Mutation	SNP	ENST00000283303.2	37	c.1895C>A	CCDS4922.2	.	.	.	.	.	.	.	.	.	.	C	3.580	-0.085803	0.07097	.	.	ENSG00000153294	ENST00000371220;ENST00000327753;ENST00000283303	T;T;T	0.42131	0.98;0.98;0.98	5.5	-1.21	0.09524	GPCR, family 2-like (1);	1.204780	0.05547	N	0.566744	T	0.15435	0.0372	L	0.32530	0.975	0.09310	N	1	B	0.13594	0.008	B	0.13407	0.009	T	0.43782	-0.9370	10	0.59425	D	0.04	0.0299	11.1568	0.48493	0.0:0.4047:0.0:0.5953	.	632	Q8IZF3	GP115_HUMAN	K	689;632;632	ENSP00000360264:T689K;ENSP00000328319:T632K;ENSP00000283303:T632K	ENSP00000283303:T632K	T	+	2	0	GPR115	47790835	0.006000	0.16342	0.000000	0.03702	0.009000	0.06853	1.152000	0.31663	-0.348000	0.08286	-0.812000	0.03155	ACG		0.433	GPR115-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040819.2	NM_153838		35	95	1	0	6.2361e-21	0.007835	8.97608e-21	35	95				
CRISP3	10321	broad.mit.edu	37	6	49698888	49698888	+	Missense_Mutation	SNP	C	C	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr6:49698888C>T	ENST00000393666.1	-	6	604	c.598G>A	c.(598-600)Gat>Aat	p.D200N	CRISP3_ENST00000433368.2_Missense_Mutation_p.D223N|CRISP3_ENST00000371159.4_Missense_Mutation_p.D231N|CRISP3_ENST00000263045.4_Missense_Mutation_p.D213N|CRISP3_ENST00000423399.2_Missense_Mutation_p.D110N			P54108	CRIS3_HUMAN	cysteine-rich secretory protein 3	200					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)			CATAGTCCATCGTCACAGTTA	0.343																																							uc003ozs.2		NA																	0				skin(2)	2						c.(598-600)GAT>AAT		cysteine-rich secretory protein 3 precursor							102.0	94.0	97.0					6																	49698888		2203	4300	6503	SO:0001583	missense	10321				innate immune response	proteinaceous extracellular matrix|specific granule		g.chr6:49698888C>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.598G>A	6.37:g.49698888C>T	ENSP00000377274:p.Asp200Asn						p.D200N	NM_006061	NP_006052	P54108	CRIS3_HUMAN	KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)		7	613	-	Lung NSC(77;0.0161)		200					A8K9S1|B2R8I8|Q15512|Q3MJ82|Q53FA9|Q5JW83|Q9H108	Missense_Mutation	SNP	ENST00000393666.1	37	c.598G>A		.	.	.	.	.	.	.	.	.	.	C	0.438	-0.900216	0.02472	.	.	ENSG00000096006	ENST00000263045;ENST00000433368;ENST00000393666;ENST00000423399;ENST00000371159	T;T;T;T;T	0.13420	3.15;3.14;3.16;2.59;3.15	4.96	2.4	0.29515	Cysteine-rich secretory protein (1);	0.259885	0.29609	U	0.011679	T	0.00998	0.0033	N	0.02736	-0.51	0.32207	N	0.5771	B	0.13145	0.007	B	0.14578	0.011	T	0.47849	-0.9085	10	0.02654	T	1	.	5.4734	0.16682	0.0:0.2802:0.0:0.7198	.	200	P54108	CRIS3_HUMAN	N	213;223;200;110;231	ENSP00000263045:D213N;ENSP00000389026:D223N;ENSP00000377274:D200N;ENSP00000410469:D110N;ENSP00000360201:D231N	ENSP00000263045:D213N	D	-	1	0	CRISP3	49806847	0.082000	0.21442	0.995000	0.50966	0.596000	0.36781	-0.139000	0.10358	0.347000	0.23924	-0.658000	0.03865	GAT		0.343	CRISP3-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_006061		33	47	0	0	0	0.004878	0	33	47				
PKHD1	5314	broad.mit.edu	37	6	51712598	51712598	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr6:51712598G>T	ENST00000371117.3	-	50	8357	c.8082C>A	c.(8080-8082)agC>agA	p.S2694R	PKHD1_ENST00000340994.4_Missense_Mutation_p.S2694R	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	2694					cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					GCCTCAGCTGGCTATTGAAGA	0.458																																							uc003pah.1		NA																	0				lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1)	44						c.(8080-8082)AGC>AGA		fibrocystin isoform 1							117.0	104.0	108.0					6																	51712598		2203	4300	6503	SO:0001583	missense	5314				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	g.chr6:51712598G>T	AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"""tigmin"", ""polyductin"", ""fibrocystin"""	606702	"""TIG multiple domains 1"""	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.8082C>A	6.37:g.51712598G>T	ENSP00000360158:p.Ser2694Arg					PKHD1_uc010jzn.1_Missense_Mutation_p.S677R|PKHD1_uc003pai.2_Missense_Mutation_p.S2694R	p.S2694R	NM_138694	NP_619639	P08F94	PKHD1_HUMAN			50	8358	-	Lung NSC(77;0.0605)		2694			Extracellular (Potential).		Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	ENST00000371117.3	37	c.8082C>A	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	G	3.449	-0.112367	0.06881	.	.	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	D;D	0.86956	-2.0;-2.19	5.32	-5.14	0.02875	.	1.004140	0.08011	N	0.990329	T	0.53465	0.1798	N	0.25647	0.755	0.09310	N	1	B;B;B	0.15930	0.007;0.007;0.015	B;B;B	0.15870	0.003;0.014;0.01	T	0.43426	-0.9392	10	0.12766	T	0.61	.	8.6166	0.33835	0.2477:0.3652:0.3871:0.0	.	2694;2694;2694	A8MVM9;P08F94-2;P08F94	.;.;PKHD1_HUMAN	R	2694	ENSP00000360158:S2694R;ENSP00000341097:S2694R	ENSP00000341097:S2694R	S	-	3	2	PKHD1	51820557	0.004000	0.15560	0.000000	0.03702	0.072000	0.16883	-0.102000	0.10956	-1.910000	0.01083	-0.813000	0.03139	AGC		0.458	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		38	66	1	0	4.44401e-20	0.002522	6.3603e-20	38	66				
PKHD1	5314	broad.mit.edu	37	6	51889474	51889474	+	Missense_Mutation	SNP	C	C	A	rs141103838	byFrequency	TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr6:51889474C>A	ENST00000371117.3	-	32	5409	c.5134G>T	c.(5134-5136)Ggg>Tgg	p.G1712W	PKHD1_ENST00000340994.4_Missense_Mutation_p.G1712W	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	1712	IPT/TIG 12; atypical.		G -> R (in a patient with polycystic kidney disease; dbSNP:rs141103838). {ECO:0000269|PubMed:19914852}.		cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					TGGTACTCCCCGGCCGGAAGG	0.522																																							uc003pah.1		NA																	0				lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1)	44						c.(5134-5136)GGG>TGG		fibrocystin isoform 1							77.0	73.0	75.0					6																	51889474		2203	4300	6503	SO:0001583	missense	5314				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	g.chr6:51889474C>A	AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"""tigmin"", ""polyductin"", ""fibrocystin"""	606702	"""TIG multiple domains 1"""	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.5134G>T	6.37:g.51889474C>A	ENSP00000360158:p.Gly1712Trp					PKHD1_uc003pai.2_Missense_Mutation_p.G1712W	p.G1712W	NM_138694	NP_619639	P08F94	PKHD1_HUMAN			32	5410	-	Lung NSC(77;0.0605)		1712			IPT/TIG 12; atypical.|Extracellular (Potential).		Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	ENST00000371117.3	37	c.5134G>T	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	C	13.23	2.174736	0.38413	.	.	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	D;D	0.97529	-3.78;-4.42	5.55	4.68	0.58851	.	0.203170	0.43919	D	0.000504	D	0.97508	0.9184	M	0.66939	2.045	0.38568	D	0.949867	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98628	1.0670	10	0.87932	D	0	.	13.0343	0.58860	0.0:0.923:0.0:0.077	.	1712;1712	P08F94-2;P08F94	.;PKHD1_HUMAN	W	1712	ENSP00000360158:G1712W;ENSP00000341097:G1712W	ENSP00000341097:G1712W	G	-	1	0	PKHD1	51997433	0.886000	0.30341	0.607000	0.28956	0.047000	0.14425	3.545000	0.53648	1.344000	0.45657	0.650000	0.86243	GGG		0.522	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		20	47	1	0	3.62473e-10	0.001882	4.47657e-10	20	47				
TINAG	27283	broad.mit.edu	37	6	54219322	54219322	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr6:54219322G>T	ENST00000259782.4	+	9	1234	c.1138G>T	c.(1138-1140)Gtc>Ttc	p.V380F		NM_014464.3	NP_055279.3	Q9UJW2	TINAG_HUMAN	tubulointerstitial nephritis antigen	380					cell adhesion (GO:0007155)|immune response (GO:0006955)	basement membrane (GO:0005604)	cysteine-type endopeptidase activity (GO:0004197)|nucleotide binding (GO:0000166)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1)	34	Lung NSC(77;0.0518)		LUSC - Lung squamous cell carcinoma(124;0.246)			CATAATGCAAGTCCGTGAAGA	0.343																																							uc003pcj.2		NA																	0				ovary(3)|central_nervous_system(1)	4						c.(1138-1140)GTC>TTC		tubulointerstitial nephritis antigen							111.0	108.0	109.0					6																	54219322		2202	4298	6500	SO:0001583	missense	27283				cell adhesion|immune response|Malpighian tubule morphogenesis|proteolysis	basement membrane	cysteine-type endopeptidase activity|nucleotide binding|polysaccharide binding|scavenger receptor activity	g.chr6:54219322G>T	AB022277	CCDS4955.1	6p12.1	2008-05-15			ENSG00000137251	ENSG00000137251			14599	protein-coding gene	gene with protein product		606749				10652240	Standard	NM_014464		Approved		uc003pcj.2	Q9UJW2	OTTHUMG00000014893	ENST00000259782.4:c.1138G>T	6.37:g.54219322G>T	ENSP00000259782:p.Val380Phe					TINAG_uc010jzt.2_RNA	p.V380F	NM_014464	NP_055279	Q9UJW2	TINAG_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.246)		9	1284	+	Lung NSC(77;0.0518)		380					Q5T467|Q9UJW1|Q9ULZ4	Missense_Mutation	SNP	ENST00000259782.4	37	c.1138G>T	CCDS4955.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.382505	0.82792	.	.	ENSG00000137251	ENST00000339741;ENST00000259782;ENST00000370865	D	0.86627	-2.15	5.4	5.4	0.78164	Peptidase C1A, papain C-terminal (2);	0.101452	0.43416	D	0.000578	D	0.94142	0.8121	H	0.97732	4.065	0.80722	D	1	D	0.54772	0.968	P	0.53450	0.726	D	0.95736	0.8779	10	0.87932	D	0	.	17.0348	0.86471	0.0:0.0:1.0:0.0	.	380	Q9UJW2	TINAG_HUMAN	F	239;380;59	ENSP00000259782:V380F	ENSP00000259782:V380F	V	+	1	0	TINAG	54327281	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	6.550000	0.73905	2.673000	0.90976	0.655000	0.94253	GTC		0.343	TINAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040984.1	NM_014464		7	42	1	0	6.31663e-08	0.003163	7.38526e-08	7	42				
KHDRBS2	202559	broad.mit.edu	37	6	62995788	62995788	+	Silent	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr6:62995788C>A	ENST00000281156.4	-	1	344	c.66G>T	c.(64-66)gtG>gtT	p.V22V		NM_152688.2	NP_689901.2	Q5VWX1	KHDR2_HUMAN	KH domain containing, RNA binding, signal transduction associated 2	22					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	poly(A) binding (GO:0008143)|poly(U) RNA binding (GO:0008266)			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|liver(1)|lung(13)|ovary(3)|prostate(3)|skin(12)|upper_aerodigestive_tract(2)|urinary_tract(1)	49				BRCA - Breast invasive adenocarcinoma(397;0.149)		GCGACGCATGCACAAAAGATG	0.572																																							uc003peg.2		NA																	0				skin(7)|ovary(3)|liver(1)	11						c.(64-66)GTG>GTT		KH domain-containing, RNA-binding, signal							126.0	95.0	106.0					6																	62995788		2203	4300	6503	SO:0001819	synonymous_variant	202559				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	SH3 domain binding	g.chr6:62995788C>A	BC034043	CCDS4963.1	6q11.1	2013-09-20			ENSG00000112232	ENSG00000112232			18114	protein-coding gene	gene with protein product	"""Sam68-like mammalian protein 1"""	610487					Standard	NM_152688		Approved	SLM1, SLM-1, MGC26664	uc003peg.2	Q5VWX1	OTTHUMG00000014936	ENST00000281156.4:c.66G>T	6.37:g.62995788C>A							p.V22V	NM_152688	NP_689901	Q5VWX1	KHDR2_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.149)	1	313	-			22					A8K7M8|Q8N4I4|Q8TCZ4	Silent	SNP	ENST00000281156.4	37	c.66G>T	CCDS4963.1																																																																																				0.572	KHDRBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041066.2	NM_152688		16	19	1	0	2.94398e-08	0.007413	3.49468e-08	16	19				
BAI3	577	broad.mit.edu	37	6	69666619	69666619	+	Silent	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr6:69666619C>A	ENST00000370598.1	+	8	2264	c.1443C>A	c.(1441-1443)acC>acA	p.T481T		NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	481	TSP type-1 4. {ECO:0000255|PROSITE- ProRule:PRU00210}.				G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				GAATAAGGACCTGTCAGGGTG	0.498																																							uc003pev.3		NA																	0				lung(27)|ovary(8)|skin(6)|pancreas(4)|central_nervous_system(3)|urinary_tract(1)|breast(1)	50						c.(1441-1443)ACC>ACA		brain-specific angiogenesis inhibitor 3							166.0	157.0	160.0					6																	69666619		2203	4300	6503	SO:0001819	synonymous_variant	577				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:69666619C>A	AB005299	CCDS4968.1	6q12	2014-08-08			ENSG00000135298	ENSG00000135298		"""-"", ""GPCR / Class B : Orphans"""	945	protein-coding gene	gene with protein product		602684				9533023	Standard	NM_001704		Approved	KIAA0550	uc003pev.4	O60242	OTTHUMG00000014982	ENST00000370598.1:c.1443C>A	6.37:g.69666619C>A						BAI3_uc010kak.2_Silent_p.T481T	p.T481T	NM_001704	NP_001695	O60242	BAI3_HUMAN			8	1891	+		all_lung(197;0.212)	481			TSP type-1 4.|Extracellular (Potential).		B7Z1K0|O60297|Q2NKN6|Q5VY37|Q9BX54	Silent	SNP	ENST00000370598.1	37	c.1443C>A	CCDS4968.1																																																																																				0.498	BAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041120.1			49	87	1	0	2.79147e-13	0.00361	3.64371e-13	49	87				
BAI3	577	broad.mit.edu	37	6	69785913	69785913	+	Missense_Mutation	SNP	G	G	C			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr6:69785913G>C	ENST00000370598.1	+	17	3284	c.2463G>C	c.(2461-2463)ttG>ttC	p.L821F		NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	821	GPS. {ECO:0000255|PROSITE- ProRule:PRU00098}.				G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				ATTGTGTATTGTGGGATGACT	0.333																																							uc003pev.3		NA																	0				lung(27)|ovary(8)|skin(6)|pancreas(4)|central_nervous_system(3)|urinary_tract(1)|breast(1)	50						c.(2461-2463)TTG>TTC		brain-specific angiogenesis inhibitor 3							182.0	167.0	172.0					6																	69785913		2203	4300	6503	SO:0001583	missense	577				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:69785913G>C	AB005299	CCDS4968.1	6q12	2014-08-08			ENSG00000135298	ENSG00000135298		"""-"", ""GPCR / Class B : Orphans"""	945	protein-coding gene	gene with protein product		602684				9533023	Standard	NM_001704		Approved	KIAA0550	uc003pev.4	O60242	OTTHUMG00000014982	ENST00000370598.1:c.2463G>C	6.37:g.69785913G>C	ENSP00000359630:p.Leu821Phe					BAI3_uc010kak.2_Missense_Mutation_p.L821F	p.L821F	NM_001704	NP_001695	O60242	BAI3_HUMAN			17	2911	+		all_lung(197;0.212)	821			GPS.|Extracellular (Potential).		B7Z1K0|O60297|Q2NKN6|Q5VY37|Q9BX54	Missense_Mutation	SNP	ENST00000370598.1	37	c.2463G>C	CCDS4968.1	.	.	.	.	.	.	.	.	.	.	G	9.738	1.164119	0.21538	.	.	ENSG00000135298	ENST00000370598	T	0.66460	-0.21	5.34	1.29	0.21616	GPS domain (3);	0.000000	0.64402	D	0.000002	T	0.16769	0.0403	N	0.02736	-0.51	0.80722	D	1	B	0.27192	0.171	B	0.36418	0.224	T	0.28996	-1.0026	10	0.02654	T	1	.	7.6537	0.28363	0.3659:0.0:0.6341:0.0	.	821	O60242	BAI3_HUMAN	F	821	ENSP00000359630:L821F	ENSP00000359630:L821F	L	+	3	2	BAI3	69842634	0.996000	0.38824	0.995000	0.50966	0.955000	0.61496	0.099000	0.15210	0.006000	0.14734	0.491000	0.48974	TTG		0.333	BAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041120.1			20	51	0	0	0	0.004656	0	20	51				
COL19A1	1310	broad.mit.edu	37	6	70646688	70646689	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	GG	GG	-	-	GG	GG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr6:70646688_70646689GG>TT	ENST00000322773.4	+	8	861_862	c.759_760GG>TT	c.(757-762)caGGat>caTTat	p.253_254QD>HY		NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	253					cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|single organismal cell-cell adhesion (GO:0016337)|skeletal muscle tissue development (GO:0007519)|skeletal system development (GO:0001501)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|protein binding, bridging (GO:0030674)			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						GCCCAGAGCAGGATGGCTTTGG	0.441																																							uc003pfc.1		NA																	0				ovary(2)|breast(2)	4						c.(757-762)CAGGAT>CATTAT		alpha 1 type XIX collagen precursor																																				SO:0001583	missense	1310				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging	g.chr6:70646688_70646689GG>TT		CCDS4970.1	6q12-q13	2013-01-16			ENSG00000082293	ENSG00000082293		"""Collagens"""	2196	protein-coding gene	gene with protein product		120165				7916703, 9143499	Standard	NM_001858		Approved		uc003pfc.1	Q14993	OTTHUMG00000014987	Exception_encountered	6.37:g.70646688_70646689delinsTT	ENSP00000316030:p.Q253_D254delinsHY					COL19A1_uc010kam.1_Missense_Mutation_p.149_150QD>HY	p.253_254QD>HY	NM_001858	NP_001849	Q14993	COJA1_HUMAN			8	876_877	+			253_254					Q00559|Q05850|Q12885|Q13676|Q14DH1|Q5JUF0|Q5T424|Q9H572|Q9NPZ2|Q9NQP2	Missense_Mutation	DNP	ENST00000322773.4	37	c.759_760GG>TT	CCDS4970.1																																																																																				0.441	COL19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041127.1			20	76	0	0	0	0.004672	0	20	76				
COL19A1	1310	broad.mit.edu	37	6	70897948	70897948	+	Splice_Site	SNP	C	C	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr6:70897948C>T	ENST00000322773.4	+	47	3128	c.3026C>T	c.(3025-3027)cCg>cTg	p.P1009L	COL19A1_ENST00000393344.1_Splice_Site_p.P631L	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	1009	Triple-helical region 5 (COL5).				cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|single organismal cell-cell adhesion (GO:0016337)|skeletal muscle tissue development (GO:0007519)|skeletal system development (GO:0001501)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|protein binding, bridging (GO:0030674)			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						CCTGGCATTCCGGTAAGTAGT	0.522																																							uc003pfc.1		NA																	0				ovary(2)|breast(2)	4						c.(3025-3027)CCG>CTG		alpha 1 type XIX collagen precursor							43.0	44.0	44.0					6																	70897948		2203	4300	6503	SO:0001630	splice_region_variant	1310				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging	g.chr6:70897948C>T		CCDS4970.1	6q12-q13	2013-01-16			ENSG00000082293	ENSG00000082293		"""Collagens"""	2196	protein-coding gene	gene with protein product		120165				7916703, 9143499	Standard	NM_001858		Approved		uc003pfc.1	Q14993	OTTHUMG00000014987	ENST00000322773.4:c.3027+1C>T	6.37:g.70897948C>T							p.P1009L	NM_001858	NP_001849	Q14993	COJA1_HUMAN			47	3143	+			1009			Triple-helical region 5 (COL5).		Q00559|Q05850|Q12885|Q13676|Q14DH1|Q5JUF0|Q5T424|Q9H572|Q9NPZ2|Q9NQP2	Missense_Mutation	SNP	ENST00000322773.4	37	c.3026C>T	CCDS4970.1	.	.	.	.	.	.	.	.	.	.	C	3.410	-0.120318	0.06838	.	.	ENSG00000082293	ENST00000322773;ENST00000393344;ENST00000393333	D;D	0.96685	-4.09;-3.38	5.27	2.54	0.30619	.	0.531087	0.18617	N	0.135992	D	0.92718	0.7685	M	0.85099	2.735	0.38450	D	0.946938	B	0.20368	0.044	B	0.15052	0.012	D	0.88351	0.2981	10	0.48119	T	0.1	.	8.8451	0.35166	0.0:0.6956:0.0:0.3044	.	1009	Q14993	COJA1_HUMAN	L	1009;631;84	ENSP00000316030:P1009L;ENSP00000377013:P631L	ENSP00000316030:P1009L	P	+	2	0	COL19A1	70954669	0.968000	0.33430	0.106000	0.21319	0.184000	0.23303	1.261000	0.32980	0.242000	0.21303	-0.136000	0.14681	CCG		0.522	COL19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041127.1		Missense_Mutation	10	14	0	0	0	0.001368	0	10	14				
FAM135A	57579	broad.mit.edu	37	6	71234590	71234590	+	Missense_Mutation	SNP	G	G	C			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr6:71234590G>C	ENST00000418814.2	+	15	2417	c.1803G>C	c.(1801-1803)ttG>ttC	p.L601F	FAM135A_ENST00000505769.1_Intron|FAM135A_ENST00000457062.2_Intron|FAM135A_ENST00000370479.3_Intron|FAM135A_ENST00000505868.1_Missense_Mutation_p.L601F|FAM135A_ENST00000361499.3_Intron	NM_001105531.2|NM_001162529.1	NP_001099001.1|NP_001156001.1	Q9P2D6	F135A_HUMAN	family with sequence similarity 135, member A	601										breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38						TTGATCCTTTGAACTCTGGCA	0.383																																							uc003pfj.2		NA																	0				central_nervous_system(1)	1						c.(1801-1803)TTG>TTC		hypothetical protein LOC57579 isoform c							34.0	36.0	35.0					6																	71234590		2203	4299	6502	SO:0001583	missense	57579							g.chr6:71234590G>C	AK000183	CCDS34481.1, CCDS47448.1, CCDS55028.1	6q13	2008-10-30	2007-05-11	2007-05-11	ENSG00000082269	ENSG00000082269			21084	protein-coding gene	gene with protein product			"""KIAA1411"""	KIAA1411		10718198	Standard	NM_001105531		Approved	FLJ20176	uc003pfj.3	Q9P2D6	OTTHUMG00000014991	ENST00000418814.2:c.1803G>C	6.37:g.71234590G>C	ENSP00000410768:p.Leu601Phe					FAM135A_uc003pfi.2_Intron|FAM135A_uc003pfh.2_Intron|FAM135A_uc003pfl.2_Intron|FAM135A_uc003pfn.2_Intron|FAM135A_uc003pfo.1_5'Flank	p.L601F	NM_001162529	NP_001156001	Q9P2D6	F135A_HUMAN			13	1936	+			601					A2RRQ5|Q3C0H3|Q5JXK0|Q5JXK1|Q68DW0|Q6P081|Q9H0F2|Q9NU48|Q9NUQ5|Q9NXL5	Missense_Mutation	SNP	ENST00000418814.2	37	c.1803G>C	CCDS55028.1	.	.	.	.	.	.	.	.	.	.	G	13.09	2.132728	0.37630	.	.	ENSG00000082269	ENST00000418814;ENST00000505868	T;T	0.20069	2.12;2.1	5.53	5.53	0.82687	.	0.322061	0.34906	N	0.003589	T	0.18173	0.0436	L	0.56769	1.78	0.80722	D	1	D	0.57899	0.981	P	0.52758	0.708	T	0.02983	-1.1086	10	0.09338	T	0.73	-6.7672	14.1482	0.65364	0.0:0.0:0.8494:0.1506	.	601	Q9P2D6	F135A_HUMAN	F	601	ENSP00000410768:L601F;ENSP00000423307:L601F	ENSP00000410768:L601F	L	+	3	2	FAM135A	71291311	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.946000	0.49050	2.763000	0.94921	0.561000	0.74099	TTG		0.383	FAM135A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000041137.2	NM_020819		3	20	0	0	0	0.004672	0	3	20				
FILIP1	27145	broad.mit.edu	37	6	76124490	76124490	+	Nonsense_Mutation	SNP	G	G	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr6:76124490G>A	ENST00000237172.7	-	2	529	c.199C>T	c.(199-201)Cga>Tga	p.R67*	FILIP1_ENST00000393004.2_Nonsense_Mutation_p.R67*	NM_015687.2	NP_056502.1	Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	67										breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						TTAGTTTTTCGTTCACATTCT	0.408																																							uc003pia.2		NA																	0				skin(3)|ovary(1)	4						c.(199-201)CGA>TGA		filamin A interacting protein 1							225.0	219.0	221.0					6																	76124490		2203	4300	6503	SO:0001587	stop_gained	27145							g.chr6:76124490G>A	AB033101	CCDS4984.1, CCDS75480.1	6q14.1	2008-02-05			ENSG00000118407	ENSG00000118407			21015	protein-coding gene	gene with protein product		607307				10574462	Standard	XM_005248713		Approved	FILIP, KIAA1275	uc003pia.3	Q7Z7B0	OTTHUMG00000015056	ENST00000237172.7:c.199C>T	6.37:g.76124490G>A	ENSP00000237172:p.Arg67*					FILIP1_uc003phy.1_Nonsense_Mutation_p.R67*|FILIP1_uc010kbe.2_Nonsense_Mutation_p.R70*	p.R67*	NM_015687	NP_056502	Q7Z7B0	FLIP1_HUMAN			2	572	-			67					B2RMU6|Q5VUL6|Q86TC3|Q8N8B9|Q96SK6|Q9NVI8|Q9ULE5	Nonsense_Mutation	SNP	ENST00000237172.7	37	c.199C>T	CCDS4984.1	.	.	.	.	.	.	.	.	.	.	G	37	6.539435	0.97646	.	.	ENSG00000118407	ENST00000393004;ENST00000237172	.	.	.	5.74	0.524	0.17066	.	0.871330	0.09972	N	0.732132	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.14252	T	0.57	-0.0179	9.9389	0.41567	0.0:0.2244:0.2931:0.4825	.	.	.	.	X	67	.	ENSP00000237172:R67X	R	-	1	2	FILIP1	76181210	0.000000	0.05858	0.041000	0.18516	0.900000	0.52787	-0.081000	0.11321	-0.210000	0.10140	0.650000	0.86243	CGA		0.408	FILIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041263.1	XM_029179		23	175	0	0	0	0.00333	0	23	175				
RIPPLY2	134701	broad.mit.edu	37	6	84563413	84563413	+	Splice_Site	SNP	G	G	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr6:84563413G>T	ENST00000369689.1	+	2	246		c.e2-1		RIPPLY2_ENST00000369687.1_5'UTR	NM_001009994.1	NP_001009994.1	Q5TAB7	RIPP2_HUMAN	ripply transcriptional repressor 2						bone morphogenesis (GO:0060349)|determination of left/right symmetry (GO:0007368)|Notch signaling pathway (GO:0007219)|ossification (GO:0001503)|post-anal tail morphogenesis (GO:0036342)|regulation of gene expression (GO:0010468)|somite rostral/caudal axis specification (GO:0032525)|somitogenesis (GO:0001756)	nucleus (GO:0005634)				large_intestine(2)|lung(4)|urinary_tract(1)	7						CTATCCCGCAGATACGCAGGC	0.672																																							uc003pke.2		NA																	0					0						c.e2-1		ripply2 protein							24.0	31.0	29.0					6																	84563413		2190	4285	6475	SO:0001630	splice_region_variant	134701				somite rostral/caudal axis specification	nucleus		g.chr6:84563413G>T	BC130460	CCDS34493.1	6q14.2	2013-07-23	2013-07-23	2008-05-07	ENSG00000203877	ENSG00000203877			21390	protein-coding gene	gene with protein product		609891	"""chromosome 6 open reading frame 159"", ""ripply2 homolog (zebrafish)"""	C6orf159			Standard	NM_001009994		Approved	dJ237I15.1	uc003pke.3	Q5TAB7	OTTHUMG00000015117	ENST00000369689.1:c.96-1G>T	6.37:g.84563413G>T							p.G32_splice	NM_001009994	NP_001009994	Q5TAB7	RIPP2_HUMAN			2	247	+								Q5TAB6	Splice_Site	SNP	ENST00000369689.1	37	c.96_splice	CCDS34493.1	.	.	.	.	.	.	.	.	.	.	G	11.50	1.657582	0.29425	.	.	ENSG00000203877	ENST00000369689	.	.	.	3.94	3.03	0.35002	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.091	0.48115	0.0:0.1882:0.8118:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RIPPLY2	84620132	0.999000	0.42202	0.641000	0.29422	0.035000	0.12851	4.846000	0.62860	0.938000	0.37419	0.455000	0.32223	.		0.672	RIPPLY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041360.1	NM_001009994	Intron	7	4	1	0	9.31168e-06	0.001855	1.03818e-05	7	4				
ASCC3	10973	broad.mit.edu	37	6	101053536	101053536	+	Silent	SNP	G	G	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr6:101053536G>A	ENST00000369162.2	-	33	5429	c.5085C>T	c.(5083-5085)ttC>ttT	p.F1695F		NM_006828.2	NP_006819.2	Q8N3C0	ASCC3_HUMAN	activating signal cointegrator 1 complex subunit 3	1695	Helicase C-terminal 2. {ECO:0000255|PROSITE-ProRule:PRU00542}.				cell proliferation (GO:0008283)|DNA dealkylation involved in DNA repair (GO:0006307)|DNA duplex unwinding (GO:0032508)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|poly(A) RNA binding (GO:0044822)			breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		CTTGGTCATCGAACTGCGGCC	0.373																																							uc003pqk.2		NA																	0				ovary(5)|skin(1)	6						c.(5083-5085)TTC>TTT		activating signal cointegrator 1 complex subunit							33.0	35.0	34.0					6																	101053536		2203	4299	6502	SO:0001819	synonymous_variant	10973				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr6:101053536G>A	AJ223948	CCDS5046.1, CCDS5047.1, CCDS75497.1	6q16	2008-02-05		2004-07-28	ENSG00000112249	ENSG00000112249			18697	protein-coding gene	gene with protein product	"""RNA helicase family"""	614217	"""helicase, ATP binding 1"""	HELIC1		10218103	Standard	NM_006828		Approved	RNAH, ASC1p200, dJ121G13.4, dJ467N11.1	uc003pqk.3	Q8N3C0	OTTHUMG00000015279	ENST00000369162.2:c.5085C>T	6.37:g.101053536G>A							p.F1695F	NM_006828	NP_006819	Q8N3C0	HELC1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)	33	5414	-		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)	1695			Helicase C-terminal 2.		E7EW23|O43738|Q4G1A0|Q5VTN2|Q9H1I9|Q9H5A2|Q9NTR0	Silent	SNP	ENST00000369162.2	37	c.5085C>T	CCDS5046.1																																																																																				0.373	ASCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041632.2	NM_006828		11	48	0	0	0	0.001855	0	11	48				
SCML4	256380	broad.mit.edu	37	6	108066223	108066223	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr6:108066223G>T	ENST00000369020.3	-	5	857	c.612C>A	c.(610-612)caC>caA	p.H204Q	SCML4_ENST00000369022.2_Missense_Mutation_p.H146Q|SCML4_ENST00000479803.1_5'Flank|SCML4_ENST00000369021.3_Missense_Mutation_p.H175Q	NM_198081.3	NP_932347.2	Q8N228	SCML4_HUMAN	sex comb on midleg-like 4 (Drosophila)	204					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(1)	25		all_cancers(87;3.26e-06)|Acute lymphoblastic leukemia(125;3.08e-08)|all_hematologic(75;1.15e-06)|all_epithelial(87;0.00142)|Colorectal(196;0.0316)		BRCA - Breast invasive adenocarcinoma(108;0.01)|Epithelial(106;0.0509)|all cancers(137;0.0586)|OV - Ovarian serous cystadenocarcinoma(136;0.0758)		GGAAGGGCTGGTGGCTGAAGA	0.612																																							uc010kdf.2		NA																	0				ovary(1)	1						c.(610-612)CAC>CAA		sex comb on midleg-like 4							82.0	70.0	74.0					6																	108066223		2203	4300	6503	SO:0001583	missense	256380				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr6:108066223G>T		CCDS5060.2, CCDS69163.1, CCDS75500.1	6q21	2013-01-10			ENSG00000146285	ENSG00000146285		"""Sterile alpha motif (SAM) domain containing"""	21397	protein-coding gene	gene with protein product							Standard	NM_001286409		Approved	dJ47M23.1	uc010kdf.3	Q8N228	OTTHUMG00000015313	ENST00000369020.3:c.612C>A	6.37:g.108066223G>T	ENSP00000358016:p.His204Gln					SCML4_uc003prz.3_Missense_Mutation_p.H146Q|SCML4_uc011eam.1_Missense_Mutation_p.H204Q|SCML4_uc003psa.3_Missense_Mutation_p.H175Q	p.H204Q	NM_198081	NP_932347	Q8N228	SCML4_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.01)|Epithelial(106;0.0509)|all cancers(137;0.0586)|OV - Ovarian serous cystadenocarcinoma(136;0.0758)	5	863	-		all_cancers(87;3.26e-06)|Acute lymphoblastic leukemia(125;3.08e-08)|all_hematologic(75;1.15e-06)|all_epithelial(87;0.00142)|Colorectal(196;0.0316)	204					B0QZ10|B0QZ11|B7ZBX3|Q5JXD0|Q5T0T6|Q8IYY6	Missense_Mutation	SNP	ENST00000369020.3	37	c.612C>A	CCDS5060.2	.	.	.	.	.	.	.	.	.	.	G	16.52	3.147352	0.57151	.	.	ENSG00000146285	ENST00000369022;ENST00000369020;ENST00000369021;ENST00000440927	T;T;T;T	0.40476	1.03;1.03;1.03;1.03	5.38	5.38	0.77491	.	0.252204	0.45126	D	0.000394	T	0.29652	0.0740	L	0.29908	0.895	0.34566	D	0.71289	P;P;D	0.53462	0.784;0.773;0.96	P;P;P	0.51701	0.494;0.449;0.677	T	0.03433	-1.1037	10	0.29301	T	0.29	.	14.5831	0.68305	0.0714:0.0:0.9286:0.0	.	204;204;175	B4E0X3;Q8N228;Q8N228-3	.;SCML4_HUMAN;.	Q	146;204;175;175	ENSP00000358018:H146Q;ENSP00000358016:H204Q;ENSP00000358017:H175Q;ENSP00000404688:H175Q	ENSP00000358016:H204Q	H	-	3	2	SCML4	108172916	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	0.773000	0.26661	2.793000	0.96121	0.655000	0.94253	CAC		0.612	SCML4-005	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000041700.3	XM_171128		9	53	1	0	0.000673444	0.008291	0.000717534	9	53				
HS3ST5	222537	broad.mit.edu	37	6	114378531	114378531	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr6:114378531G>T	ENST00000312719.5	-	5	2119	c.931C>A	c.(931-933)Cgc>Agc	p.R311S	RP3-399L15.3_ENST00000523087.1_RNA|HS3ST5_ENST00000411826.1_Missense_Mutation_p.R311S|RP3-399L15.3_ENST00000519270.1_RNA|RP3-399L15.3_ENST00000519104.1_RNA			Q8IZT8	HS3S5_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 5	311					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process, enzymatic modification (GO:0015015)|negative regulation of coagulation (GO:0050819)|protein sulfation (GO:0006477)|regulation of viral entry into host cell (GO:0046596)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity (GO:0008467)	p.R311C(1)		breast(4)|endometrium(2)|kidney(1)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	41		all_cancers(87;0.0587)|Colorectal(196;0.0676)|all_epithelial(87;0.154)		OV - Ovarian serous cystadenocarcinoma(136;0.00937)|all cancers(137;0.0117)|Epithelial(106;0.0274)|GBM - Glioblastoma multiforme(226;0.143)		GGATGAATGCGCCCCTTGCTG	0.398																																							uc003pwg.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(931-933)CGC>AGC		heparan sulfate (glucosamine)							59.0	64.0	62.0					6																	114378531		2203	4300	6503	SO:0001583	missense	222537				heparan sulfate proteoglycan biosynthetic process, enzymatic modification|negative regulation of coagulation|protein sulfation|regulation of virion penetration into host cell	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity|protein binding	g.chr6:114378531G>T	AF503292	CCDS34517.1	6q21	2011-11-16			ENSG00000249853	ENSG00000249853		"""Sulfotransferases, membrane-bound"""	19419	protein-coding gene	gene with protein product		609407				12138164	Standard	NM_153612		Approved	3-OST-5	uc003pwg.4	Q8IZT8	OTTHUMG00000015412	ENST00000312719.5:c.931C>A	6.37:g.114378531G>T	ENSP00000427888:p.Arg311Ser					uc003pwf.2_Intron|HS3ST5_uc003pwh.3_Missense_Mutation_p.R311S	p.R311S	NM_153612	NP_705840	Q8IZT8	HS3S5_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.00937)|all cancers(137;0.0117)|Epithelial(106;0.0274)|GBM - Glioblastoma multiforme(226;0.143)	2	963	-		all_cancers(87;0.0587)|Colorectal(196;0.0676)|all_epithelial(87;0.154)	311			PAPS (By similarity).|Lumenal (Potential).		A8K1J2|Q52LI2|Q8N285	Missense_Mutation	SNP	ENST00000312719.5	37	c.931C>A	CCDS34517.1	.	.	.	.	.	.	.	.	.	.	G	16.94	3.261914	0.59431	.	.	ENSG00000249853	ENST00000312719;ENST00000411826	T;T	0.57273	0.41;0.41	6.02	5.1	0.69264	Sulfotransferase domain (1);	0.000000	0.85682	D	0.000000	T	0.73418	0.3584	M	0.92219	3.285	0.80722	D	1	D	0.71674	0.998	D	0.63192	0.912	T	0.79569	-0.1749	10	0.87932	D	0	.	16.1165	0.81306	0.0:0.0:0.8657:0.1342	.	311	Q8IZT8	HS3S5_HUMAN	S	311	ENSP00000427888:R311S;ENSP00000440332:R311S	ENSP00000427888:R311S	R	-	1	0	HS3ST5	114485224	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.323000	0.72891	2.865000	0.98341	0.655000	0.94253	CGC		0.398	HS3ST5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041911.2	NM_153612		28	47	1	0	6.07407e-21	0.007291	8.76775e-21	28	47				
DSE	29940	broad.mit.edu	37	6	116747753	116747753	+	Missense_Mutation	SNP	C	C	T	rs200163571		TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr6:116747753C>T	ENST00000331677.3	+	4	877	c.433C>T	c.(433-435)Cct>Tct	p.P145S	DSE_ENST00000606265.1_3'UTR|DSE_ENST00000359564.2_Missense_Mutation_p.P145S|DSE_ENST00000537543.1_Missense_Mutation_p.P164S|DSE_ENST00000452085.3_Missense_Mutation_p.P145S			Q9UL01	DSE_HUMAN	dermatan sulfate epimerase	145					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	chondroitin-glucuronate 5-epimerase activity (GO:0047757)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35		all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234)		Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262)		GAAAGATGCTCCTTGGGATGA	0.433																																							uc003pws.2		NA																	0				ovary(1)	1						c.(433-435)CCT>TCT		dermatan sulfate epimerase precursor							97.0	90.0	92.0					6																	116747753		2203	4300	6503	SO:0001583	missense	29940				dermatan sulfate biosynthetic process	endoplasmic reticulum|Golgi apparatus|integral to membrane	chondroitin-glucuronate 5-epimerase activity	g.chr6:116747753C>T	AF098066	CCDS5107.1	6q22	2008-02-05	2007-01-29	2007-01-29	ENSG00000111817	ENSG00000111817	5.1.3.19		21144	protein-coding gene	gene with protein product		605942	"""squamous cell carcinoma antigen recognized by T cells 2"""	SART2		11920522, 16505484	Standard	NM_001080976		Approved	DSEPI	uc003pws.3	Q9UL01	OTTHUMG00000015434	ENST00000331677.3:c.433C>T	6.37:g.116747753C>T	ENSP00000332151:p.Pro145Ser					DSE_uc011ebf.1_Missense_Mutation_p.P145S|DSE_uc011ebg.1_Missense_Mutation_p.P164S|DSE_uc003pwt.2_Missense_Mutation_p.P145S	p.P145S	NM_001080976	NP_001074445	Q9UL01	DSE_HUMAN		Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262)	3	627	+		all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234)	145					Q5R3K6	Missense_Mutation	SNP	ENST00000331677.3	37	c.433C>T	CCDS5107.1	.	.	.	.	.	.	.	.	.	.	C	33	5.278553	0.95459	.	.	ENSG00000111817	ENST00000430252;ENST00000452085;ENST00000537543;ENST00000331677;ENST00000359564	T;T;T;T;T	0.23348	1.91;1.91;1.91;1.91;1.91	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.47284	0.1437	M	0.71036	2.16	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.38286	-0.9668	10	0.59425	D	0.04	-14.3526	20.2983	0.98569	0.0:1.0:0.0:0.0	.	164;145	B7Z765;Q9UL01	.;DSE_HUMAN	S	145;145;164;145;145	ENSP00000397597:P145S;ENSP00000404049:P145S;ENSP00000441152:P164S;ENSP00000332151:P145S;ENSP00000352567:P145S	ENSP00000332151:P145S	P	+	1	0	DSE	116854446	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.802000	0.96397	0.655000	0.94253	CCT		0.433	DSE-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041940.2	NM_013352		33	44	0	0	0	0.005524	0	33	44				
TRDN	10345	broad.mit.edu	37	6	123591004	123591004	+	Silent	SNP	G	G	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr6:123591004G>T	ENST00000398178.3	-	31	1749	c.1728C>A	c.(1726-1728)ccC>ccA	p.P576P	TRDN_ENST00000334268.4_Silent_p.P576P	NM_006073.3	NP_006064.2	Q13061	TRDN_HUMAN	triadin	576					cellular calcium ion homeostasis (GO:0006874)|cytoplasmic microtubule organization (GO:0031122)|endoplasmic reticulum membrane organization (GO:0090158)|heart contraction (GO:0060047)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|myotube differentiation (GO:0014902)|negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)|positive regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901846)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cell communication by electrical coupling (GO:0010649)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to organic cyclic compound (GO:0014070)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)	ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	41				GBM - Glioblastoma multiforme(226;0.184)		TTGTTGGTTTGGGCTTGGCTG	0.323																																							uc003pzj.1		NA																	0				ovary(1)	1						c.(1726-1728)CCC>CCA		triadin							143.0	143.0	143.0					6																	123591004		1875	4100	5975	SO:0001819	synonymous_variant	10345				muscle contraction	integral to membrane|plasma membrane|sarcoplasmic reticulum membrane	receptor binding	g.chr6:123591004G>T	U18985	CCDS59035.1, CCDS75511.1	6q22.31	2008-05-15			ENSG00000186439	ENSG00000186439			12261	protein-coding gene	gene with protein product		603283				7588753	Standard	NM_001251987		Approved		uc003pzj.2	Q13061	OTTHUMG00000015497	ENST00000398178.3:c.1728C>A	6.37:g.123591004G>T						TRDN_uc010kem.1_Silent_p.P77P	p.P576P	NM_006073	NP_006064	Q13061	TRDN_HUMAN		GBM - Glioblastoma multiforme(226;0.184)	31	1750	-			576			Lumenal.		A5D6W5|F5H2W7|Q6NSB8	Silent	SNP	ENST00000398178.3	37	c.1728C>A	CCDS55053.1																																																																																				0.323	TRDN-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				6	22	1	0	2.74318e-10	0.006214	3.40451e-10	6	22				
LAMA2	3908	broad.mit.edu	37	6	129468115	129468115	+	Silent	SNP	G	G	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr6:129468115G>T	ENST00000421865.2	+	6	880	c.831G>T	c.(829-831)tcG>tcT	p.S277S		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	277	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		ATTACTACTCGGTCAAGGATA	0.398																																							uc003qbn.2		NA																	0				ovary(8)|breast(1)|skin(1)	10						c.(829-831)TCG>TCT		laminin alpha 2 subunit isoform a precursor							207.0	189.0	195.0					6																	129468115		2203	4299	6502	SO:0001819	synonymous_variant	3908				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr6:129468115G>T	Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"""Laminins"""	6482	protein-coding gene	gene with protein product	"""merosin"", ""congenital muscular dystrophy"""	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.831G>T	6.37:g.129468115G>T						LAMA2_uc003qbo.2_Silent_p.S277S	p.S277S	NM_000426	NP_000417	P24043	LAMA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)	6	936	+			277			Laminin N-terminal.		Q14736|Q5VUM2|Q93022	Silent	SNP	ENST00000421865.2	37	c.831G>T	CCDS5138.1																																																																																				0.398	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042180.1			19	94	1	0	1.9806e-07	0.002299	2.29177e-07	19	94				
LAMA2	3908	broad.mit.edu	37	6	129513894	129513894	+	Missense_Mutation	SNP	G	G	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr6:129513894G>A	ENST00000421865.2	+	12	1727	c.1678G>A	c.(1678-1680)Gac>Aac	p.D560N		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	560	Laminin IV type A 1. {ECO:0000255|PROSITE-ProRule:PRU00458}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		CCAGCAGGACGACTTGGACTC	0.547																																							uc003qbn.2		NA																	0				ovary(8)|breast(1)|skin(1)	10						c.(1678-1680)GAC>AAC		laminin alpha 2 subunit isoform a precursor							60.0	58.0	59.0					6																	129513894		2203	4300	6503	SO:0001583	missense	3908				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr6:129513894G>A	Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"""Laminins"""	6482	protein-coding gene	gene with protein product	"""merosin"", ""congenital muscular dystrophy"""	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.1678G>A	6.37:g.129513894G>A	ENSP00000400365:p.Asp560Asn					LAMA2_uc003qbo.2_Missense_Mutation_p.D560N	p.D560N	NM_000426	NP_000417	P24043	LAMA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)	12	1783	+			560			Laminin IV type A 1.		Q14736|Q5VUM2|Q93022	Missense_Mutation	SNP	ENST00000421865.2	37	c.1678G>A	CCDS5138.1	.	.	.	.	.	.	.	.	.	.	G	7.682	0.689240	0.14973	.	.	ENSG00000196569	ENST00000358023;ENST00000354729;ENST00000421865	T	0.32272	1.46	5.11	0.897	0.19258	Laminin B type IV (1);	0.566557	0.15295	N	0.269980	T	0.03959	0.0111	N	0.05230	-0.09	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.01281	0.0;0.0	T	0.46105	-0.9215	10	0.16420	T	0.52	.	9.0799	0.36545	0.4593:0.0:0.5407:0.0	.	560;560	A6NF00;P24043	.;LAMA2_HUMAN	N	560	ENSP00000400365:D560N	ENSP00000346769:D560N	D	+	1	0	LAMA2	129555587	0.000000	0.05858	0.000000	0.03702	0.046000	0.14306	0.497000	0.22514	0.232000	0.21100	0.460000	0.39030	GAC		0.547	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042180.1			32	34	0	0	0	0.004878	0	32	34				
LAMA2	3908	broad.mit.edu	37	6	129826417	129826417	+	Nonsense_Mutation	SNP	A	A	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr6:129826417A>T	ENST00000421865.2	+	61	8669	c.8620A>T	c.(8620-8622)Aaa>Taa	p.K2874*		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	2874	Laminin G-like 4. {ECO:0000255|PROSITE- ProRule:PRU00122}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		CATCAGTCCCAAAAAAGCCGA	0.403																																							uc003qbn.2		NA																	0				ovary(8)|breast(1)|skin(1)	10						c.(8620-8622)AAA>TAA		laminin alpha 2 subunit isoform a precursor							91.0	93.0	93.0					6																	129826417		2203	4300	6503	SO:0001587	stop_gained	3908				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr6:129826417A>T	Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"""Laminins"""	6482	protein-coding gene	gene with protein product	"""merosin"", ""congenital muscular dystrophy"""	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.8620A>T	6.37:g.129826417A>T	ENSP00000400365:p.Lys2874*					LAMA2_uc003qbo.2_Nonsense_Mutation_p.K2870*|uc003qbq.2_Intron	p.K2874*	NM_000426	NP_000417	P24043	LAMA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)	60	8725	+			2874			Laminin G-like 4.		Q14736|Q5VUM2|Q93022	Nonsense_Mutation	SNP	ENST00000421865.2	37	c.8620A>T	CCDS5138.1	.	.	.	.	.	.	.	.	.	.	A	49	15.533581	0.99837	.	.	ENSG00000196569	ENST00000358023;ENST00000354729;ENST00000421865;ENST00000443169	.	.	.	5.72	5.72	0.89469	.	0.086446	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.0156	0.80439	1.0:0.0:0.0:0.0	.	.	.	.	X	2874;2873;2874;892	.	.	K	+	1	0	LAMA2	129868110	1.000000	0.71417	1.000000	0.80357	0.584000	0.36387	5.951000	0.70273	2.189000	0.69895	0.533000	0.62120	AAA		0.403	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042180.1			21	31	0	0	0	0.00278	0	21	31				
TMEM244	253582	broad.mit.edu	37	6	130166922	130166922	+	Missense_Mutation	SNP	C	C	T	rs143949103		TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr6:130166922C>T	ENST00000368143.1	-	2	191	c.109G>A	c.(109-111)Gtg>Atg	p.V37M	TMEM244_ENST00000438392.1_Missense_Mutation_p.V37M	NM_001010876.1	NP_001010876.1	Q5VVB8	TM244_HUMAN	transmembrane protein 244	37						integral component of membrane (GO:0016021)		p.V37M(1)									TCAAACATCACGCAGCCCATG	0.358													C|||	1	0.000199681	0.0	0.0	5008	,	,		18431	0.001		0.0	False		,,,				2504	0.0						uc003qbs.2		NA																	1	Substitution - Missense(1)	p.V37M(1)	large_intestine(1)	large_intestine(1)	1						c.(109-111)GTG>ATG		hypothetical protein LOC253582		C	MET/VAL	1,4405	2.1+/-5.4	0,1,2202	111.0	103.0	106.0		109	-2.4	0.0	6	dbSNP_134	106	0,8600		0,0,4300	yes	missense	C6orf191	NM_001010876.1	21	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	37/129	130166922	1,13005	2203	4300	6503	SO:0001583	missense	253582					integral to membrane		g.chr6:130166922C>T		CCDS34536.1	6q22.33	2012-02-21	2012-02-21	2012-02-21	ENSG00000203756	ENSG00000203756			21571	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 191"""	C6orf191			Standard	NM_001010876		Approved	bA174C7.4	uc003qbs.3	Q5VVB8	OTTHUMG00000015553	ENST00000368143.1:c.109G>A	6.37:g.130166922C>T	ENSP00000357125:p.Val37Met						p.V37M	NM_001010876	NP_001010876	Q5VVB8	CF191_HUMAN		GBM - Glioblastoma multiforme(226;0.0387)|all cancers(137;0.115)|OV - Ovarian serous cystadenocarcinoma(155;0.131)	2	192	-			37			Helical; (Potential).			Missense_Mutation	SNP	ENST00000368143.1	37	c.109G>A	CCDS34536.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	3.211	-0.161646	0.06502	2.27E-4	0.0	ENSG00000203756	ENST00000368143;ENST00000438392	T;T	0.38401	1.14;1.14	4.41	-2.44	0.06502	.	0.691250	0.12851	N	0.433943	T	0.03434	0.0099	N	0.02011	-0.69	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.41592	-0.9500	10	0.30854	T	0.27	-33.3459	5.9151	0.19050	0.0:0.2501:0.3143:0.4356	.	37	Q5VVB8	CF191_HUMAN	M	37	ENSP00000357125:V37M;ENSP00000403755:V37M	ENSP00000357125:V37M	V	-	1	0	C6orf191	130208615	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.521000	0.06245	-0.489000	0.06716	-2.688000	0.00140	GTG		0.358	TMEM244-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042194.1	NM_001010876		27	40	0	0	0	0.003755	0	27	40				
SHPRH	257218	broad.mit.edu	37	6	146266723	146266723	+	Nonsense_Mutation	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr6:146266723C>A	ENST00000367505.2	-	8	1636	c.1372G>T	c.(1372-1374)Gga>Tga	p.G458*	SHPRH_ENST00000438092.2_Nonsense_Mutation_p.G458*|SHPRH_ENST00000275233.7_Nonsense_Mutation_p.G458*|SHPRH_ENST00000367503.3_Nonsense_Mutation_p.G458*			Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase	458	H15. {ECO:0000255|PROSITE- ProRule:PRU00837}.				DNA repair (GO:0006281)|nucleosome assembly (GO:0006334)|protein polyubiquitination (GO:0000209)	nucleosome (GO:0000786)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		ATGGACACTCCTTTTTTTCCA	0.328																																							uc003qlf.2		NA																	0				ovary(1)|kidney(1)|central_nervous_system(1)	3						c.(1372-1374)GGA>TGA		SNF2 histone linker PHD RING helicase isoform a							65.0	59.0	60.0					6																	146266723		1836	4099	5935	SO:0001587	stop_gained	257218				DNA repair|nucleosome assembly	nucleosome|nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding	g.chr6:146266723C>A	AB095943	CCDS43513.1, CCDS47496.1, CCDS43513.2	6q24.2	2012-02-23	2012-02-23		ENSG00000146414	ENSG00000146414		"""RING-type (C3HC4) zinc fingers"""	19336	protein-coding gene	gene with protein product		608048	"""SNF2 histone linker PHD RING helicase"""			12837266	Standard	NM_001042683		Approved	FLJ90837, KIAA2023, bA545I5.2	uc003qlf.3	Q149N8	OTTHUMG00000015750	ENST00000367505.2:c.1372G>T	6.37:g.146266723C>A	ENSP00000356475:p.Gly458*					SHPRH_uc003qld.2_Nonsense_Mutation_p.G458*|SHPRH_uc003qle.2_Nonsense_Mutation_p.G458*|SHPRH_uc003qlg.1_Nonsense_Mutation_p.G14*|SHPRH_uc003qlj.1_Nonsense_Mutation_p.G347*	p.G458*	NM_001042683	NP_001036148	Q149N8	SHPRH_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)	8	1771	-		Ovarian(120;0.0365)	458			H15.		Q149N9|Q5VV79|Q68DS5|Q7Z5J5|Q8IVE8|Q8IWQ9|Q8N1S8|Q8NBR7	Nonsense_Mutation	SNP	ENST00000367505.2	37	c.1372G>T	CCDS43513.2	.	.	.	.	.	.	.	.	.	.	C	40	8.280802	0.98740	.	.	ENSG00000146414	ENST00000367505;ENST00000367503;ENST00000438092;ENST00000275233;ENST00000444767	.	.	.	5.52	5.52	0.82312	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	-23.1209	19.4495	0.94861	0.0:1.0:0.0:0.0	.	.	.	.	X	458;458;458;458;347	.	ENSP00000275233:G458X	G	-	1	0	SHPRH	146308416	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.996000	0.76263	2.608000	0.88229	0.585000	0.79938	GGA		0.328	SHPRH-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042571.2	NM_173082		8	9	1	0	1.26484e-09	0.00308	1.54882e-09	8	9				
AKAP12	9590	broad.mit.edu	37	6	151672917	151672917	+	Missense_Mutation	SNP	G	G	C	rs142987485		TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr6:151672917G>C	ENST00000253332.1	+	3	3580	c.3391G>C	c.(3391-3393)Gag>Cag	p.E1131Q	AKAP12_ENST00000359755.5_Missense_Mutation_p.E1026Q|AKAP12_ENST00000354675.6_Missense_Mutation_p.E1033Q|AKAP12_ENST00000402676.2_Missense_Mutation_p.E1131Q			Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12	1131					G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of protein kinase A signaling (GO:0010739)|protein targeting (GO:0006605)|regulation of protein kinase C signaling (GO:0090036)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)	adenylate cyclase binding (GO:0008179)|protein kinase A binding (GO:0051018)			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		AGAGAGCATAGAGTCCAGTGA	0.512																																					Melanoma(141;1616 1805 10049 24534 51979)	Melanoma(141;1616 1805 10049 24534 51979)	uc011eep.1		NA																	0				large_intestine(2)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)|skin(1)|pancreas(1)	8						c.(3391-3393)GAG>CAG		A kinase (PRKA) anchor protein 12 isoform 1		G	GLN/GLU,GLN/GLU	0,4406		0,0,2203	58.0	58.0	58.0		3391,3097	2.2	0.0	6	dbSNP_134	58	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	AKAP12	NM_005100.3,NM_144497.2	29,29	0,1,6502	CC,CG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	1131/1783,1033/1685	151672917	1,13005	2203	4300	6503	SO:0001583	missense	9590				G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting	cell cortex|cytoskeleton|plasma membrane	adenylate cyclase binding|protein kinase A binding	g.chr6:151672917G>C	U81607	CCDS5229.1, CCDS5230.1	6q24-q25	2011-07-01	2008-08-29		ENSG00000131016	ENSG00000131016		"""A-kinase anchor proteins"""	370	protein-coding gene	gene with protein product	"""gravin"", ""Src-Suppressed C Kinase Substrate"""	604698	"""A kinase (PRKA) anchor protein (gravin) 12"""			9000000	Standard	NM_144497		Approved	AKAP250, SSeCKS	uc011eep.2	Q02952	OTTHUMG00000015833	ENST00000253332.1:c.3391G>C	6.37:g.151672917G>C	ENSP00000253332:p.Glu1131Gln					AKAP12_uc003qoe.2_Missense_Mutation_p.E1131Q|AKAP12_uc003qof.2_Missense_Mutation_p.E1033Q|AKAP12_uc010kim.2_Intron|AKAP12_uc003qog.2_Missense_Mutation_p.E1026Q	p.E1131Q	NM_005100	NP_005091	Q02952	AKA12_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)	4	3631	+		Ovarian(120;0.125)	1131					O00310|O00498|Q4LE68|Q5SZ80|Q5TGN1|Q68D82|Q99970	Missense_Mutation	SNP	ENST00000253332.1	37	c.3391G>C	CCDS5229.1	.	.	.	.	.	.	.	.	.	.	G	14.42	2.530660	0.45073	0.0	1.16E-4	ENSG00000131016	ENST00000402676;ENST00000253332;ENST00000354675;ENST00000359755	T;T;T;T	0.10192	2.9;2.9;2.91;2.91	5.19	2.21	0.28008	.	0.388400	0.18933	N	0.127147	T	0.02455	0.0075	L	0.32530	0.975	0.09310	N	1	B;B;B	0.29988	0.264;0.264;0.172	B;B;B	0.24006	0.05;0.05;0.023	T	0.42732	-0.9434	10	0.24483	T	0.36	.	11.3654	0.49668	0.0715:0.488:0.4404:0.0	.	1026;1033;1131	Q02952-3;Q02952-2;Q02952	.;.;AKA12_HUMAN	Q	1131;1131;1033;1026	ENSP00000384537:E1131Q;ENSP00000253332:E1131Q;ENSP00000346702:E1033Q;ENSP00000352794:E1026Q	ENSP00000253332:E1131Q	E	+	1	0	AKAP12	151714610	0.003000	0.15002	0.001000	0.08648	0.029000	0.11900	0.960000	0.29253	0.539000	0.28788	0.455000	0.32223	GAG		0.512	AKAP12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042712.1			8	23	0	0	0	0.004482	0	8	23				
ARID1B	57492	broad.mit.edu	37	6	157522225	157522225	+	Missense_Mutation	SNP	G	G	C			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr6:157522225G>C	ENST00000350026.5	+	17	4459	c.4458G>C	c.(4456-4458)atG>atC	p.M1486I	ARID1B_ENST00000275248.4_Missense_Mutation_p.M1481I|ARID1B_ENST00000367148.1_Missense_Mutation_p.M1539I|ARID1B_ENST00000346085.5_Missense_Mutation_p.M1499I	NM_017519.2	NP_059989.2	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	1486	Pro-rich.				chromatin-mediated maintenance of transcription (GO:0048096)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		CAGACGATATGATGGTACCCG	0.572																																							uc003qqn.2		NA																	0				ovary(1)|breast(1)	2						c.(4441-4443)ATG>ATC		AT rich interactive domain 1B (SWI1-like)							125.0	124.0	124.0					6																	157522225		2203	4296	6499	SO:0001583	missense	57492				chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity	g.chr6:157522225G>C	AF521671	CCDS5251.1, CCDS5251.2, CCDS55072.1	6q25.3	2014-09-17			ENSG00000049618	ENSG00000049618		"""-"""	18040	protein-coding gene	gene with protein product		614556					Standard	NM_017519		Approved	KIAA1235, ELD/OSA1, p250R, BAF250b, DAN15, 6A3-5	uc003qqo.3	Q8NFD5	OTTHUMG00000015890	ENST00000350026.5:c.4458G>C	6.37:g.157522225G>C	ENSP00000055163:p.Met1486Ile					ARID1B_uc003qqo.2_Missense_Mutation_p.M1441I|ARID1B_uc003qqp.2_Missense_Mutation_p.M1428I	p.M1481I	NM_017519	NP_059989	Q8NFD5	ARI1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)	18	4595	+		Breast(66;0.000162)|Ovarian(120;0.0265)	1486			Pro-rich.		Q5JRD1|Q5VYC4|Q8IZY8|Q8TEV0|Q8TF02|Q99491|Q9ULI5	Missense_Mutation	SNP	ENST00000350026.5	37	c.4443G>C	CCDS5251.2	.	.	.	.	.	.	.	.	.	.	G	14.57	2.574481	0.45902	.	.	ENSG00000049618	ENST00000346085;ENST00000350026;ENST00000367148;ENST00000275248;ENST00000414678	T;T;T;T;T	0.02216	4.72;4.73;4.71;4.71;4.39	5.08	5.08	0.68730	.	0.118958	0.56097	D	0.000021	T	0.01421	0.0046	L	0.41824	1.3	0.52501	D	0.999959	B;B;B	0.33171	0.278;0.4;0.4	B;B;B	0.33960	0.084;0.173;0.173	T	0.64466	-0.6401	10	0.22109	T	0.4	.	18.8669	0.92296	0.0:0.0:1.0:0.0	.	1486;1499;1481	Q8NFD5;Q8NFD5-2;G3XAA0	ARI1B_HUMAN;.;.	I	1499;1486;1539;1481;1008	ENSP00000344546:M1499I;ENSP00000055163:M1486I;ENSP00000356116:M1539I;ENSP00000275248:M1481I;ENSP00000412835:M1008I	ENSP00000275248:M1481I	M	+	3	0	ARID1B	157563917	1.000000	0.71417	0.993000	0.49108	0.983000	0.72400	3.963000	0.56773	2.528000	0.85240	0.591000	0.81541	ATG		0.572	ARID1B-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000372723.1	NM_020732		19	52	0	0	0	0.010504	0	19	52				
TULP4	56995	broad.mit.edu	37	6	158902115	158902115	+	Missense_Mutation	SNP	G	G	C			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr6:158902115G>C	ENST00000367097.3	+	8	2637	c.1280G>C	c.(1279-1281)aGa>aCa	p.R427T	TULP4_ENST00000367094.2_Missense_Mutation_p.R427T	NM_020245.4	NP_064630.2	Q9NRJ4	TULP4_HUMAN	tubby like protein 4	427					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|response to nutrient (GO:0007584)	cytoplasm (GO:0005737)	sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		AACAACATGAGAGACTTTGTC	0.587																																							uc003qrf.2		NA																	0				ovary(1)	1						c.(1279-1281)AGA>ACA		tubby like protein 4 isoform 1							74.0	77.0	76.0					6																	158902115		2203	4300	6503	SO:0001583	missense	56995				intracellular signal transduction|response to nutrient	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity	g.chr6:158902115G>C		CCDS34561.1, CCDS34562.1	6q25-q26	2013-01-10			ENSG00000130338	ENSG00000130338		"""WD repeat domain containing"""	15530	protein-coding gene	gene with protein product						11595174	Standard	NM_020245		Approved	TUSP, KIAA1397	uc003qrf.3	Q9NRJ4	OTTHUMG00000015910	ENST00000367097.3:c.1280G>C	6.37:g.158902115G>C	ENSP00000356064:p.Arg427Thr					TULP4_uc011efo.1_Missense_Mutation_p.R427T|TULP4_uc003qrg.2_Missense_Mutation_p.R427T	p.R427T	NM_020245	NP_064630	Q9NRJ4	TULP4_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)	8	2637	+		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)	427					Q5T3M2|Q5T3M3|Q9HD22|Q9P2F0	Missense_Mutation	SNP	ENST00000367097.3	37	c.1280G>C	CCDS34561.1	.	.	.	.	.	.	.	.	.	.	G	29.2	4.989240	0.93106	.	.	ENSG00000130338	ENST00000367097;ENST00000367094	T;T	0.61742	0.08;0.08	5.31	5.31	0.75309	Tumour necrosis factor-like (1);	0.000000	0.85682	D	0.000000	T	0.70962	0.3284	M	0.67397	2.05	0.80722	D	1	D;D;D	0.76494	0.993;0.992;0.999	D;D;D	0.80764	0.977;0.974;0.994	T	0.73572	-0.3940	10	0.66056	D	0.02	-13.7912	18.9788	0.92747	0.0:0.0:1.0:0.0	.	427;427;427	B4E202;Q9NRJ4-2;Q9NRJ4	.;.;TULP4_HUMAN	T	427	ENSP00000356064:R427T;ENSP00000356061:R427T	ENSP00000356061:R427T	R	+	2	0	TULP4	158822103	1.000000	0.71417	0.987000	0.45799	0.813000	0.45954	9.275000	0.95738	2.491000	0.84063	0.561000	0.74099	AGA		0.587	TULP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042869.1	NM_020245		22	52	0	0	0	0.007291	0	22	52				
FNDC1	84624	broad.mit.edu	37	6	159654537	159654537	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr6:159654537C>A	ENST00000297267.9	+	11	3193	c.2993C>A	c.(2992-2994)cCc>cAc	p.P998H	FNDC1_ENST00000340366.6_Missense_Mutation_p.P935H	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	998					cellular response to hypoxia (GO:0071456)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of protein phosphorylation (GO:0001934)|regulation of protein transport (GO:0051223)	cell-cell junction (GO:0005911)|extracellular region (GO:0005576)|mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		AGGATGACACCCGGCCGGGCC	0.706																																							uc010kjv.2		NA																	0				large_intestine(4)|ovary(3)|central_nervous_system(1)	8						c.(2992-2994)CCC>CAC		fibronectin type III domain containing 1							22.0	28.0	26.0					6																	159654537		2171	4266	6437	SO:0001583	missense	84624					extracellular region		g.chr6:159654537C>A	AB058769	CCDS47512.1	6q25	2013-02-11			ENSG00000164694	ENSG00000164694		"""Fibronectin type III domain containing"""	21184	protein-coding gene	gene with protein product		609991	"""fibronectin type III domain containing 2"""	FNDC2		11347906	Standard	NM_032532		Approved	bA243O10.1, KIAA1866, dJ322A24.1	uc010kjv.3	Q4ZHG4	OTTHUMG00000015927	ENST00000297267.9:c.2993C>A	6.37:g.159654537C>A	ENSP00000297267:p.Pro998His					FNDC1_uc010kjw.1_Missense_Mutation_p.P883H	p.P998H	NM_032532	NP_115921	Q4ZHG4	FNDC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)	11	3193	+		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)	998					A6H8X2|B7ZBR4|B7ZBR5|B9EK49|Q5JPI0|Q5VU31|Q5VU32|Q5VXX4|Q70CQ6|Q96JG1	Missense_Mutation	SNP	ENST00000297267.9	37	c.2993C>A	CCDS47512.1	.	.	.	.	.	.	.	.	.	.	C	15.26	2.780203	0.49891	.	.	ENSG00000164694	ENST00000297267;ENST00000340366	T;T	0.08984	3.03;3.9	5.02	2.0	0.26442	.	1.007950	0.07976	N	0.984801	T	0.03915	0.0110	N	0.19112	0.55	0.09310	N	1	D;D	0.59767	0.986;0.977	P;P	0.55999	0.789;0.62	T	0.38950	-0.9637	10	0.87932	D	0	-0.7869	2.5524	0.04752	0.2014:0.5215:0.1711:0.106	.	935;998	Q4ZHG4-2;Q4ZHG4	.;FNDC1_HUMAN	H	998;935	ENSP00000297267:P998H;ENSP00000342460:P935H	ENSP00000297267:P998H	P	+	2	0	FNDC1	159574527	0.000000	0.05858	0.000000	0.03702	0.409000	0.31022	0.049000	0.14099	1.090000	0.41315	0.555000	0.69702	CCC		0.706	FNDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042897.3	NM_032532		6	8	1	0	0.000978159	0.000978	0.00104	6	8				
LPA	4018	broad.mit.edu	37	6	161016500	161016500	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr6:161016500G>T	ENST00000316300.5	-	21	3399	c.3355C>A	c.(3355-3357)Ccc>Acc	p.P1119T	LPA_ENST00000447678.1_Missense_Mutation_p.P1119T			P08519	APOA_HUMAN	lipoprotein, Lp(a)	3627	Kringle 10. {ECO:0000255|PROSITE- ProRule:PRU00121}.				blood circulation (GO:0008015)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|negative regulation of endopeptidase activity (GO:0010951)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|plasma lipoprotein particle (GO:0034358)	apolipoprotein binding (GO:0034185)|endopeptidase inhibitor activity (GO:0004866)|fibronectin binding (GO:0001968)|heparin binding (GO:0008201)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	CTGACACTGGGATCCATGGTG	0.522																																							uc003qtl.2		NA																	0				ovary(3)|skin(2)|pancreas(1)	6						c.(3355-3357)CCC>ACC		lipoprotein Lp(a) precursor	Aminocaproic Acid(DB00513)						110.0	110.0	110.0					6																	161016500		2129	4263	6392	SO:0001583	missense	4018				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity	g.chr6:161016500G>T	X06290	CCDS43523.1	6q25-q26	2012-10-02			ENSG00000198670	ENSG00000198670			6667	protein-coding gene	gene with protein product		152200		LP		3670400	Standard	NM_005577		Approved		uc003qtl.3	P08519	OTTHUMG00000015956	ENST00000316300.5:c.3355C>A	6.37:g.161016500G>T	ENSP00000321334:p.Pro1119Thr						p.P1119T	NM_005577	NP_005568	P08519	APOA_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	22	3475	-		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)	3627			Kringle 32.		Q5VTD7|Q9UD88	Missense_Mutation	SNP	ENST00000316300.5	37	c.3355C>A	CCDS43523.1	.	.	.	.	.	.	.	.	.	.	g	10.89	1.477511	0.26511	.	.	ENSG00000198670	ENST00000316300;ENST00000447678	T;T	0.64618	-0.11;-0.11	2.31	2.31	0.28768	Kringle (4);Kringle-like fold (1);	.	.	.	.	T	0.71837	0.3387	M	0.88031	2.925	0.09310	N	1	D	0.64830	0.994	D	0.83275	0.996	T	0.58983	-0.7539	9	0.72032	D	0.01	.	8.0392	0.30511	0.0:0.0:1.0:0.0	.	3627	P08519	APOA_HUMAN	T	1119	ENSP00000321334:P1119T;ENSP00000395608:P1119T	ENSP00000321334:P1119T	P	-	1	0	LPA	160936490	1.000000	0.71417	0.009000	0.14445	0.402000	0.30811	5.905000	0.69893	1.265000	0.44215	0.205000	0.17691	CCC		0.522	LPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042957.1	NM_005577		42	50	1	0	2.24059e-37	0.00361	3.53796e-37	42	50				
MACC1	346389	broad.mit.edu	37	7	20198817	20198817	+	Silent	SNP	T	T	C			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr7:20198817T>C	ENST00000400331.5	-	5	1475	c.1167A>G	c.(1165-1167)acA>acG	p.T389T	MACC1_ENST00000332878.4_Silent_p.T389T|MACC1_ENST00000589011.1_Silent_p.T389T	NM_182762.3	NP_877439.3	Q6ZN28	MACC1_HUMAN	metastasis associated in colon cancer 1	389					positive regulation of cell division (GO:0051781)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(1)|kidney(1)|large_intestine(15)|lung(12)|ovary(2)|prostate(1)|skin(3)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(1)	39						GTCCACAAACTGTTAAAACAA	0.403																																							uc003sus.3		NA																	0				ovary(2)|skin(1)	3						c.(1165-1167)ACA>ACG		putative binding protein 7a5							52.0	49.0	50.0					7																	20198817		2203	4300	6503	SO:0001819	synonymous_variant	346389				positive regulation of cell division|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	growth factor activity	g.chr7:20198817T>C		CCDS5369.1	7p15.3	2008-10-14			ENSG00000183742	ENSG00000183742			30215	protein-coding gene	gene with protein product		612646					Standard	NM_182762		Approved	7A5, SH3BP4L	uc003sus.4	Q6ZN28	OTTHUMG00000128415	ENST00000400331.5:c.1167A>G	7.37:g.20198817T>C						MACC1_uc010kug.2_Silent_p.T389T	p.T389T	NM_182762	NP_877439	Q6ZN28	MACC1_HUMAN			5	1476	-			389					A8MUS5|B2RNR9|Q6ZQN8|Q7Z5A5	Silent	SNP	ENST00000400331.5	37	c.1167A>G	CCDS5369.1																																																																																				0.403	MACC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250202.5	NM_182762		7	38	0	0	0	0.00308	0	7	38				
ABCB5	340273	broad.mit.edu	37	7	20725427	20725427	+	Missense_Mutation	SNP	G	G	C			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr7:20725427G>C	ENST00000404938.2	+	16	2630	c.1978G>C	c.(1978-1980)Gac>Cac	p.D660H	ABCB5_ENST00000258738.6_Missense_Mutation_p.D215H	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	660					antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent (GO:0002485)|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent (GO:0002489)|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent (GO:0002481)|cell differentiation (GO:0030154)|compound eye corneal lens development (GO:0048058)|positive regulation of antigen processing and presentation of peptide antigen via MHC class I (GO:0002591)|regulation of membrane potential (GO:0042391)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|efflux transmembrane transporter activity (GO:0015562)			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						AGACTTCATTGACAAGGCTGA	0.388																																							uc003suw.3		NA																	0				skin(2)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|pancreas(1)	6						c.(643-645)GAC>CAC		ATP-binding cassette, sub-family B, member 5							89.0	78.0	82.0					7																	20725427		2203	4300	6503	SO:0001583	missense	340273				regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity	g.chr7:20725427G>C	U66692	CCDS5371.1, CCDS55090.1, CCDS55091.1, CCDS55092.1	7p14	2012-03-14			ENSG00000004846	ENSG00000004846		"""ATP binding cassette transporters / subfamily B"""	46	protein-coding gene	gene with protein product	"""P-glycoprotein ABCB5"", ""ATP-binding cassette protein"""	611785				8894702, 12960149	Standard	NM_001163942		Approved	EST422562, ABCB5beta, ABCB5alpha	uc010kuh.3	Q2M3G0	OTTHUMG00000094789	ENST00000404938.2:c.1978G>C	7.37:g.20725427G>C	ENSP00000384881:p.Asp660His					ABCB5_uc010kuh.2_Missense_Mutation_p.D660H	p.D215H	NM_178559	NP_848654	Q2M3G0	ABCB5_HUMAN			7	1189	+			215			Extracellular (Potential).		A4D131|A7BKA4|B5MD19|B7WPL1|F8QQP8|F8QQP9|J3KQ04|Q2M3I5|Q5I5Q7|Q5I5Q8|Q6KG50|Q6XFQ5|Q8IXA1	Missense_Mutation	SNP	ENST00000404938.2	37	c.643G>C	CCDS55090.1	.	.	.	.	.	.	.	.	.	.	G	8.820	0.937294	0.18206	.	.	ENSG00000004846	ENST00000404938;ENST00000258738	D;D	0.87491	-2.26;-2.24	4.28	3.39	0.38822	ABC transporter, transmembrane domain, type 1 (1);	3.225920	0.01574	N	0.020700	D	0.83248	0.5213	L	0.37561	1.115	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.002	T	0.67098	-0.5756	10	0.51188	T	0.08	.	7.9762	0.30155	0.1094:0.0:0.8906:0.0	.	660;215	A7BKA4;Q2M3G0	.;ABCB5_HUMAN	H	660;215	ENSP00000384881:D660H;ENSP00000258738:D215H	ENSP00000258738:D215H	D	+	1	0	ABCB5	20691952	0.026000	0.19158	0.002000	0.10522	0.007000	0.05969	1.578000	0.36525	1.384000	0.46424	0.609000	0.83330	GAC		0.388	ABCB5-004	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000326736.2	NM_178559		23	36	0	0	0	0.00632	0	23	36				
OSBPL3	26031	broad.mit.edu	37	7	24846453	24846453	+	Missense_Mutation	SNP	C	C	G			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr7:24846453C>G	ENST00000313367.2	-	21	2837	c.2386G>C	c.(2386-2388)Gat>Cat	p.D796H	OSBPL3_ENST00000487020.1_Intron|OSBPL3_ENST00000431825.2_Missense_Mutation_p.D729H|OSBPL3_ENST00000396429.1_Missense_Mutation_p.D760H|OSBPL3_ENST00000352860.1_Missense_Mutation_p.D765H|OSBPL3_ENST00000353930.1_Missense_Mutation_p.D760H|OSBPL3_ENST00000396431.1_Missense_Mutation_p.D765H|OSBPL3_ENST00000409069.1_Missense_Mutation_p.D729H	NM_015550.2	NP_056365.1	Q9H4L5	OSBL3_HUMAN	oxysterol binding protein-like 3	796					lipid transport (GO:0006869)	cytosol (GO:0005829)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)	cholesterol binding (GO:0015485)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(19)|prostate(1)|skin(3)|urinary_tract(1)	43						GATGATGGATCCATTTCATTT	0.383																																							uc003sxf.2		NA																	0				skin(1)	1						c.(2386-2388)GAT>CAT		oxysterol-binding protein-like protein 3 isoform							147.0	138.0	141.0					7																	24846453		2203	4300	6503	SO:0001583	missense	26031				lipid transport		lipid binding|protein binding	g.chr7:24846453C>G	AB014604	CCDS5390.1, CCDS5391.1, CCDS5392.1, CCDS47564.1	7p15.3	2013-01-10			ENSG00000070882	ENSG00000070882		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	16370	protein-coding gene	gene with protein product		606732		OSBP3		9734811	Standard	XM_005249698		Approved	ORP-3, ORP3, KIAA0704	uc003sxf.3	Q9H4L5	OTTHUMG00000023277	ENST00000313367.2:c.2386G>C	7.37:g.24846453C>G	ENSP00000315410:p.Asp796His					OSBPL3_uc003sxd.2_RNA|OSBPL3_uc003sxe.2_RNA|OSBPL3_uc003sxg.2_Missense_Mutation_p.D760H|OSBPL3_uc003sxh.2_Missense_Mutation_p.D765H|OSBPL3_uc003sxi.2_Missense_Mutation_p.D729H	p.D796H	NM_015550	NP_056365	Q9H4L5	OSBL3_HUMAN			21	2791	-			796					A4D167|A4D168|A4D169|A4D170|A4D171|A4D172|B8ZZ79|B8ZZP0|O14591|O43357|O43358|Q8N702|Q8N703|Q8N704|Q8NFH0|Q8NFH1|Q8NI12|Q8NI13|Q9BZF4|Q9UED6	Missense_Mutation	SNP	ENST00000313367.2	37	c.2386G>C	CCDS5390.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.515711	0.85389	.	.	ENSG00000070882	ENST00000313367;ENST00000352860;ENST00000353930;ENST00000431825;ENST00000396431;ENST00000396429;ENST00000409069	T;T;T;T;T;T;T	0.30714	1.52;1.52;1.52;1.52;1.52;1.52;1.52	5.68	5.68	0.88126	.	0.047812	0.85682	D	0.000000	T	0.65450	0.2692	M	0.89715	3.055	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.999;1.0	D;D;D;D	0.80764	0.994;0.994;0.951;0.992	T	0.71031	-0.4710	10	0.59425	D	0.04	-28.2926	19.7968	0.96490	0.0:1.0:0.0:0.0	.	729;765;760;796	Q9H4L5-4;Q9H4L5-2;Q9H4L5-3;Q9H4L5	.;.;.;OSBL3_HUMAN	H	796;765;760;729;765;760;729	ENSP00000315410:D796H;ENSP00000315331:D765H;ENSP00000315277:D760H;ENSP00000389779:D729H;ENSP00000379708:D765H;ENSP00000379706:D760H;ENSP00000386953:D729H	ENSP00000315410:D796H	D	-	1	0	OSBPL3	24812978	1.000000	0.71417	0.999000	0.59377	0.877000	0.50540	3.896000	0.56266	2.685000	0.91497	0.555000	0.69702	GAT		0.383	OSBPL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214085.2			13	67	0	0	0	0.004007	0	13	67				
NME8	51314	broad.mit.edu	37	7	37890266	37890266	+	Missense_Mutation	SNP	A	A	G			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr7:37890266A>G	ENST00000199447.4	+	5	499	c.127A>G	c.(127-129)Aga>Gga	p.R43G	EPDR1_ENST00000476620.1_Intron|NME8_ENST00000440017.1_Missense_Mutation_p.R43G	NM_016616.4	NP_057700.3	Q8N427	TXND3_HUMAN	NME/NM23 family member 8	43	Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}.		R -> K (in dbSNP:rs2722372).		cell differentiation (GO:0030154)|cell redox homeostasis (GO:0045454)|CTP biosynthetic process (GO:0006241)|GTP biosynthetic process (GO:0006183)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)|UTP biosynthetic process (GO:0006228)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)										TGGACCTTGCAGAGCAATGCA	0.353																																						Ovarian(108;903 1537 27096 29907 47400)	uc003tfn.2		NA																	0				ovary(1)|breast(1)|central_nervous_system(1)	3						c.(127-129)AGA>GGA		thioredoxin domain containing 3							108.0	118.0	115.0					7																	37890266		2203	4300	6503	SO:0001583	missense	51314	Kartagener_syndrome			cell differentiation|cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|multicellular organismal development|spermatogenesis|UTP biosynthetic process	cytoplasm|microtubule cytoskeleton	ATP binding|nucleoside diphosphate kinase activity	g.chr7:37890266A>G	AF202051	CCDS5452.1	7p15.2	2012-05-18	2012-05-18	2012-05-18	ENSG00000086288	ENSG00000086288			16473	protein-coding gene	gene with protein product	"""sperm-specific thioredoxin 2"""	607421	"""thioredoxin domain containing 3 (spermatozoa)"""	TXNDC3		11737268, 11768308, 19852809	Standard	NM_016616		Approved	CILD6, SPTRX2, NM23-H8	uc003tfn.3	Q8N427	OTTHUMG00000023716	ENST00000199447.4:c.127A>G	7.37:g.37890266A>G	ENSP00000199447:p.Arg43Gly						p.R43G	NM_016616	NP_057700	Q8N427	TXND3_HUMAN			5	499	+			43			Thioredoxin.		Q9NZH1	Missense_Mutation	SNP	ENST00000199447.4	37	c.127A>G	CCDS5452.1	.	.	.	.	.	.	.	.	.	.	A	15.17	2.754931	0.49362	.	.	ENSG00000086288	ENST00000199447;ENST00000440017	T;T	0.03889	3.77;3.77	5.01	5.01	0.66863	Thioredoxin domain (1);Thioredoxin, conserved site (1);Thioredoxin-like fold (3);	0.000000	0.56097	D	0.000022	T	0.13670	0.0331	M	0.90369	3.11	0.09310	N	0.999995	B	0.19331	0.035	B	0.25987	0.065	T	0.06844	-1.0804	10	0.72032	D	0.01	-31.5973	13.9841	0.64324	1.0:0.0:0.0:0.0	.	43	Q8N427	TXND3_HUMAN	G	43	ENSP00000199447:R43G;ENSP00000397063:R43G	ENSP00000199447:R43G	R	+	1	2	TXNDC3	37856791	1.000000	0.71417	1.000000	0.80357	0.720000	0.41350	6.327000	0.72910	2.007000	0.58848	0.459000	0.35465	AGA		0.353	NME8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219946.1	NM_016616		13	74	0	0	0	0.006122	0	13	74				
SFRP4	6424	broad.mit.edu	37	7	37956065	37956065	+	Silent	SNP	C	C	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr7:37956065C>T	ENST00000436072.2	-	1	452	c.75G>A	c.(73-75)gaG>gaA	p.E25E	EPDR1_ENST00000476620.1_Intron	NM_003014.3	NP_003005.2	Q6FHJ7	SFRP4_HUMAN	secreted frizzled-related protein 4	25	FZ. {ECO:0000255|PROSITE- ProRule:PRU00090}.				brain development (GO:0007420)|cell differentiation (GO:0030154)|decidualization (GO:0046697)|epithelium development (GO:0060429)|gonad development (GO:0008406)|mammary gland involution (GO:0060056)|menstrual cycle phase (GO:0022601)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of JNK cascade (GO:0046329)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of sodium-dependent phosphate transport (GO:2000119)|phosphate ion homeostasis (GO:0055062)|positive regulation of apoptotic process (GO:0043065)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of epidermal cell differentiation (GO:0045606)|positive regulation of gene expression (GO:0010628)|positive regulation of keratinocyte apoptotic process (GO:1902174)|positive regulation of receptor internalization (GO:0002092)|response to hormone (GO:0009725)|vasculature development (GO:0001944)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)	PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						TGCGCACCGCCTCGCAGGGCG	0.687																																							uc003tfo.3		NA																	0				lung(1)	1						c.(73-75)GAG>GAA		secreted frizzled-related  protein 4 precursor							72.0	61.0	64.0					7																	37956065		2203	4300	6503	SO:0001819	synonymous_variant	6424				brain development|cell differentiation|decidualization|embryo development|epithelium development|gonad development|mammary gland involution|menstrual cycle phase|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell proliferation|negative regulation of JNK cascade|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of sodium-dependent phosphate transport|phosphate ion homeostasis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epidermal cell differentiation|positive regulation of gene expression|positive regulation of receptor internalization|vasculature development|Wnt receptor signaling pathway	cell surface|cytoplasm|extracellular space|nucleus	PDZ domain binding|Wnt receptor activity|Wnt-protein binding	g.chr7:37956065C>T	AF026692	CCDS5453.1	7p14.1	2008-07-18			ENSG00000106483	ENSG00000106483		"""Secreted frizzled-related proteins"""	10778	protein-coding gene	gene with protein product		606570				10211996	Standard	NM_003014		Approved	frpHE, FRP-4, FRPHE	uc003tfo.4	Q6FHJ7	OTTHUMG00000023026	ENST00000436072.2:c.75G>A	7.37:g.37956065C>T							p.E25E	NM_003014	NP_003005	Q6FHJ7	SFRP4_HUMAN			1	461	-			25			FZ.		B4DYC1|O14877|Q05BG7|Q1ZYW2|Q4G124|Q6FHM0|Q6PD64	Silent	SNP	ENST00000436072.2	37	c.75G>A	CCDS5453.1																																																																																				0.687	SFRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220017.2	NM_003014		12	36	0	0	0	0.001855	0	12	36				
INHBA	3624	broad.mit.edu	37	7	41729708	41729708	+	Missense_Mutation	SNP	C	C	A	rs569482596	byFrequency	TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr7:41729708C>A	ENST00000242208.4	-	3	1067	c.821G>T	c.(820-822)gGa>gTa	p.G274V	AC005027.3_ENST00000416150.1_RNA|INHBA_ENST00000442711.1_Missense_Mutation_p.G274V|INHBA_ENST00000464515.1_5'UTR	NM_002192.2	NP_002183.1	P08476	INHBA_HUMAN	inhibin, beta A	274					activin receptor signaling pathway (GO:0032924)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular response to cholesterol (GO:0071397)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|defense response (GO:0006952)|endodermal cell differentiation (GO:0035987)|erythrocyte differentiation (GO:0030218)|extrinsic apoptotic signaling pathway (GO:0097191)|eyelid development in camera-type eye (GO:0061029)|G1/S transition of mitotic cell cycle (GO:0000082)|growth (GO:0040007)|hair follicle development (GO:0001942)|hematopoietic progenitor cell differentiation (GO:0002244)|hemoglobin biosynthetic process (GO:0042541)|male gonad development (GO:0008584)|mesodermal cell differentiation (GO:0048333)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of follicle-stimulating hormone secretion (GO:0046882)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of macrophage differentiation (GO:0045650)|negative regulation of phosphorylation (GO:0042326)|nervous system development (GO:0007399)|odontogenesis (GO:0042476)|ovarian follicle development (GO:0001541)|palate development (GO:0060021)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of follicle-stimulating hormone secretion (GO:0046881)|positive regulation of ovulation (GO:0060279)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|progesterone secretion (GO:0042701)|regulation of follicle-stimulating hormone secretion (GO:0046880)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to drug (GO:0042493)	activin A complex (GO:0043509)|extracellular region (GO:0005576)|inhibin A complex (GO:0043512)	cytokine activity (GO:0005125)|growth factor activity (GO:0008083)|hormone activity (GO:0005179)|identical protein binding (GO:0042802)|peptide hormone binding (GO:0017046)|type II activin receptor binding (GO:0070699)	p.G274V(1)		biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(15)|lung(26)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						accttcacctccgcccttctt	0.592										TSP Lung(11;0.080)																													uc003thq.2		NA																	1	Substitution - Missense(1)		lung(1)	lung(5)|ovary(1)	6						c.(820-822)GGA>GTA		inhibin beta A precursor							51.0	49.0	50.0					7																	41729708		2203	4300	6503	SO:0001583	missense	3624				cell cycle arrest|cell surface receptor linked signaling pathway|defense response|erythrocyte differentiation|eyelid development in camera-type eye|G1/S transition of mitotic cell cycle|growth|hair follicle development|hemoglobin biosynthetic process|hemopoietic progenitor cell differentiation|induction of apoptosis|male gonad development|negative regulation of B cell differentiation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|odontogenesis|ovarian follicle development|palate development|positive regulation of erythrocyte differentiation|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation|positive regulation of transcription from RNA polymerase II promoter|progesterone secretion|regulation of activin receptor signaling pathway	activin A complex|inhibin A complex	cytokine activity|follistatin binding|growth factor activity|hormone activity|identical protein binding|signal transducer activity	g.chr7:41729708C>A		CCDS5464.1	7p15-p13	2014-01-30	2007-07-30		ENSG00000122641	ENSG00000122641		"""Endogenous ligands"""	6066	protein-coding gene	gene with protein product		147290	"""inhibin, beta A (activin A, activin AB alpha polypeptide)"""			3345731	Standard	NM_002192		Approved		uc003thr.3	P08476	OTTHUMG00000023574	ENST00000242208.4:c.821G>T	7.37:g.41729708C>A	ENSP00000242208:p.Gly274Val	TSP Lung(11;0.080)				INHBA_uc003thr.2_Missense_Mutation_p.G274V	p.G274V	NM_002192	NP_002183	P08476	INHBA_HUMAN			2	1056	-			274					Q14599	Missense_Mutation	SNP	ENST00000242208.4	37	c.821G>T	CCDS5464.1	.	.	.	.	.	.	.	.	.	.	.	14.15	2.449282	0.43531	.	.	ENSG00000122641	ENST00000242208;ENST00000442711	T;T	0.78816	-1.21;-1.21	5.96	1.62	0.23740	Transforming growth factor-beta, N-terminal (1);	0.411149	0.20298	N	0.095082	T	0.61185	0.2327	N	0.08118	0	0.26238	N	0.978916	B	0.27166	0.17	B	0.38655	0.278	T	0.56475	-0.7973	10	0.52906	T	0.07	-3.4537	6.6298	0.22851	0.0:0.4548:0.1717:0.3736	.	274	P08476	INHBA_HUMAN	V	274	ENSP00000242208:G274V;ENSP00000397197:G274V	ENSP00000242208:G274V	G	-	2	0	INHBA	41696233	0.363000	0.24989	0.474000	0.27266	0.288000	0.27193	0.784000	0.26816	0.291000	0.22468	-0.225000	0.12378	GGA		0.592	INHBA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250793.1			4	21	1	0	0.00909568	0.009096	0.00941286	4	21				
GLI3	2737	broad.mit.edu	37	7	42005202	42005202	+	Missense_Mutation	SNP	C	C	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr7:42005202C>T	ENST00000395925.3	-	15	3553	c.3469G>A	c.(3469-3471)Gac>Aac	p.D1157N	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	1157					anterior semicircular canal development (GO:0060873)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|axon guidance (GO:0007411)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye morphogenesis (GO:0048593)|cell differentiation involved in kidney development (GO:0061005)|cerebral cortex radial glia guided migration (GO:0021801)|developmental growth (GO:0048589)|embryonic digestive tract development (GO:0048566)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain radial glial cell differentiation (GO:0021861)|frontal suture morphogenesis (GO:0060364)|heart development (GO:0007507)|hindgut morphogenesis (GO:0007442)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|lambdoid suture morphogenesis (GO:0060366)|lateral ganglionic eminence cell proliferation (GO:0022018)|lateral semicircular canal development (GO:0060875)|limb morphogenesis (GO:0035108)|lung development (GO:0030324)|mammary gland specification (GO:0060594)|melanocyte differentiation (GO:0030318)|metanephros development (GO:0001656)|negative regulation of alpha-beta T cell differentiation (GO:0046639)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative thymic T cell selection (GO:0045060)|nose morphogenesis (GO:0043585)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte differentiation (GO:0048709)|optic nerve morphogenesis (GO:0021631)|palate development (GO:0060021)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein processing (GO:0016485)|proximal/distal pattern formation (GO:0009954)|response to estrogen (GO:0043627)|sagittal suture morphogenesis (GO:0060367)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|smoothened signaling pathway involved in spinal cord motor neuron cell fate specification (GO:0021776)|smoothened signaling pathway involved in ventral spinal cord interneuron specification (GO:0021775)|T cell differentiation in thymus (GO:0033077)|thymocyte apoptotic process (GO:0070242)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|wound healing (GO:0042060)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|primary cilium (GO:0072372)|transcriptional repressor complex (GO:0017053)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|histone acetyltransferase binding (GO:0035035)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						ATGGGCAGGTCGGTTTTGCTG	0.692									Pallister-Hall syndrome;Greig Cephalopolysyndactyly																														uc011kbh.1		NA																	0				lung(11)|ovary(3)|large_intestine(2)|central_nervous_system(1)|kidney(1)|pancreas(1)	19						c.(3469-3471)GAC>AAC		GLI-Kruppel family member GLI3							86.0	101.0	96.0					7																	42005202		2201	4295	6496	SO:0001583	missense	2737	Greig_Cephalopolysyndactyly|Pallister-Hall_syndrome	Familial Cancer Database	;	negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:42005202C>T		CCDS5465.1	7p13	2013-01-25	2009-03-05		ENSG00000106571	ENSG00000106571		"""Zinc fingers, C2H2-type"""	4319	protein-coding gene	gene with protein product	"""zinc finger protein GLI3"", ""oncogene GLI3"", ""DNA-binding protein"""	165240	"""Greig cephalopolysyndactyly syndrome"", ""GLI-Kruppel family member GLI3"", ""glioma-associated oncogene family zinc finger 3"""	GCPS, PHS		2118997	Standard	NM_000168		Approved	PAP-A, PAPA, PAPA1, PAPB, ACLS, PPDIV	uc011kbh.2	P10071	OTTHUMG00000023630	ENST00000395925.3:c.3469G>A	7.37:g.42005202C>T	ENSP00000379258:p.Asp1157Asn					GLI3_uc011kbg.1_Missense_Mutation_p.D1098N	p.D1157N	NM_000168	NP_000159	P10071	GLI3_HUMAN			15	3560	-			1157					A4D1W1|O75219|Q17RW4|Q75MT0|Q75MU9|Q9UDT5|Q9UJ39	Missense_Mutation	SNP	ENST00000395925.3	37	c.3469G>A	CCDS5465.1	.	.	.	.	.	.	.	.	.	.	C	6.894	0.534387	0.13188	.	.	ENSG00000106571	ENST00000395925	T	0.12147	2.71	5.67	4.79	0.61399	.	0.379864	0.34828	N	0.003654	T	0.06690	0.0171	N	0.12887	0.27	0.80722	D	1	B	0.24675	0.109	B	0.12837	0.008	T	0.10894	-1.0610	10	0.02654	T	1	.	14.045	0.64700	0.0:0.928:0.0:0.072	.	1157	P10071	GLI3_HUMAN	N	1157	ENSP00000379258:D1157N	ENSP00000379258:D1157N	D	-	1	0	GLI3	41971727	0.995000	0.38212	0.957000	0.39632	0.839000	0.47603	3.044000	0.49830	2.667000	0.90743	0.563000	0.77884	GAC		0.692	GLI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250806.3	NM_000168		30	105	0	0	0	0.003755	0	30	105				
HECW1	23072	broad.mit.edu	37	7	43508550	43508550	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr7:43508550G>T	ENST00000395891.2	+	16	3550	c.2945G>T	c.(2944-2946)tGc>tTc	p.C982F	HECW1_ENST00000453890.1_Missense_Mutation_p.C948F	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	982					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						AGTAGCACCTGCTTAAAGCAC	0.502																																							uc003tid.1		NA																	0				ovary(8)|lung(6)|breast(4)|skin(4)|pancreas(1)	23						c.(2944-2946)TGC>TTC		NEDD4-like ubiquitin-protein ligase 1							70.0	68.0	69.0					7																	43508550		2023	4195	6218	SO:0001583	missense	23072				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity	g.chr7:43508550G>T	AB048365	CCDS5469.2, CCDS69286.1	7p13	2004-12-13			ENSG00000002746	ENSG00000002746			22195	protein-coding gene	gene with protein product		610384				12690205, 14684739	Standard	XM_005249665		Approved	KIAA0322, NEDL1	uc003tid.1	Q76N89	OTTHUMG00000128917	ENST00000395891.2:c.2945G>T	7.37:g.43508550G>T	ENSP00000379228:p.Cys982Phe					HECW1_uc011kbi.1_Missense_Mutation_p.C948F	p.C982F	NM_015052	NP_055867	Q76N89	HECW1_HUMAN			16	3550	+			982					A7E2X0|A8MYS3|B4DH42|O15036|Q9HCC7	Missense_Mutation	SNP	ENST00000395891.2	37	c.2945G>T	CCDS5469.2	.	.	.	.	.	.	.	.	.	.	G	25.9	4.689809	0.88735	.	.	ENSG00000002746	ENST00000395891;ENST00000453890;ENST00000265522	D;D	0.84442	-1.85;-1.85	5.58	5.58	0.84498	.	0.039850	0.85682	D	0.000000	D	0.91666	0.7366	L	0.61218	1.895	0.80722	D	1	D;D	0.89917	1.0;0.995	D;D	0.79784	0.993;0.918	D	0.92035	0.5636	10	0.87932	D	0	.	19.5719	0.95423	0.0:0.0:1.0:0.0	.	948;982	B4DH42;Q76N89	.;HECW1_HUMAN	F	982;948;982	ENSP00000379228:C982F;ENSP00000407774:C948F	ENSP00000265522:C982F	C	+	2	0	HECW1	43475075	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.476000	0.97823	2.631000	0.89168	0.484000	0.47621	TGC		0.502	HECW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250893.2	NM_015052		38	36	1	0	5.20006e-24	0.002852	7.70464e-24	38	36				
CAMK2B	816	broad.mit.edu	37	7	44281927	44281927	+	Missense_Mutation	SNP	C	C	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr7:44281927C>T	ENST00000395749.2	-	10	785	c.709G>A	c.(709-711)Gag>Aag	p.E237K	CAMK2B_ENST00000358707.3_Missense_Mutation_p.E237K|CAMK2B_ENST00000346990.4_Missense_Mutation_p.E237K|CAMK2B_ENST00000353625.4_Missense_Mutation_p.E237K|CAMK2B_ENST00000347193.4_Missense_Mutation_p.E237K|CAMK2B_ENST00000502837.2_Missense_Mutation_p.E108K|CAMK2B_ENST00000395747.2_Missense_Mutation_p.E237K|CAMK2B_ENST00000258682.6_Missense_Mutation_p.E237K|CAMK2B_ENST00000440254.2_Missense_Mutation_p.E237K|CAMK2B_ENST00000350811.3_Missense_Mutation_p.E237K|CAMK2B_ENST00000457475.1_Missense_Mutation_p.E237K	NM_001220.4	NP_001211.3	Q13554	KCC2B_HUMAN	calcium/calmodulin-dependent protein kinase II beta	237	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of meiosis involved in egg activation (GO:0060466)|calcium ion transport (GO:0006816)|cytokine-mediated signaling pathway (GO:0019221)|G1/S transition of mitotic cell cycle (GO:0000082)|inhibitory G-protein coupled receptor phosphorylation (GO:0002030)|interferon-gamma-mediated signaling pathway (GO:0060333)|neuromuscular process controlling balance (GO:0050885)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of neuron projection development (GO:0010976)|positive regulation of synapse maturation (GO:0090129)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of calcium ion transport (GO:0051924)|regulation of dendritic spine development (GO:0060998)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of skeletal muscle adaptation (GO:0014733)|regulation of synapse structural plasticity (GO:0051823)|regulation of synaptic transmission, cholinergic (GO:0032222)|response to cadmium ion (GO:0046686)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|spindle midzone (GO:0051233)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|protein homodimerization activity (GO:0042803)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)	18						GTGTCCCACTCAGGGGACGGG	0.607																																							uc003tkq.2		NA																	0				large_intestine(1)|ovary(1)	2						c.(709-711)GAG>AAG		calcium/calmodulin-dependent protein kinase II							129.0	125.0	126.0					7																	44281927		2203	4300	6503	SO:0001583	missense	816				interferon-gamma-mediated signaling pathway|synaptic transmission	cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity	g.chr7:44281927C>T	U50358	CCDS5483.1, CCDS5484.1, CCDS5485.1, CCDS5486.1, CCDS5487.1, CCDS5488.1, CCDS5489.1, CCDS43573.1	7p14.3-p14.1	2008-10-30	2008-10-30		ENSG00000058404	ENSG00000058404			1461	protein-coding gene	gene with protein product	"""CaM-kinase II beta chain"", ""calcium/calmodulin-dependent protein kinase type II beta chain"", ""CaM kinase II beta subunit"", ""proline rich calmodulin-dependent protein kinase"""	607707	"""calcium/calmodulin-dependent protein kinase (CaM kinase) II beta"""	CAMKB			Standard	NM_172079		Approved	CAM2, CAMK2	uc003tkq.2	Q13554	OTTHUMG00000023491	ENST00000395749.2:c.709G>A	7.37:g.44281927C>T	ENSP00000379098:p.Glu237Lys					CAMK2B_uc003tkp.2_Missense_Mutation_p.E237K|CAMK2B_uc003tkx.2_Missense_Mutation_p.E237K|CAMK2B_uc010kyd.2_RNA|CAMK2B_uc003tkr.2_Missense_Mutation_p.E237K|CAMK2B_uc003tks.2_Missense_Mutation_p.E237K|CAMK2B_uc003tku.2_Missense_Mutation_p.E237K|CAMK2B_uc003tkv.2_Missense_Mutation_p.E237K|CAMK2B_uc003tkt.2_Missense_Mutation_p.E237K|CAMK2B_uc003tkw.2_Missense_Mutation_p.E237K|CAMK2B_uc010kyc.2_Missense_Mutation_p.E237K	p.E237K	NM_001220	NP_001211	Q13554	KCC2B_HUMAN			10	919	-			237			Protein kinase.		A4D2K0|A4D2K1|A4D2K2|A4D2K3|A4D2K4|A4D2K5|A4D2K6|O95437|O95438|O95599|Q9UGH7|Q9UGH8|Q9UGH9|Q9UNX0|Q9UNX7|Q9UP00|Q9Y5N4|Q9Y6F4	Missense_Mutation	SNP	ENST00000395749.2	37	c.709G>A	CCDS5483.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.683183	0.88542	.	.	ENSG00000058404	ENST00000350811;ENST00000457475;ENST00000395749;ENST00000502837;ENST00000440254;ENST00000358707;ENST00000353625;ENST00000347193;ENST00000346990;ENST00000258682;ENST00000395747	T;T;T;T;T;T;T;T;T;T;T	0.24151	1.87;1.87;1.87;1.87;1.87;1.87;1.87;1.87;1.87;1.87;1.87	4.39	4.39	0.52855	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	T	0.44265	0.1285	L	0.42487	1.325	0.80722	D	1	D;D;D;D;D;D;D;D;D	0.89917	1.0;0.998;0.999;1.0;1.0;1.0;1.0;0.999;1.0	D;D;D;D;D;D;D;D;D	0.97110	0.988;0.992;0.969;0.999;0.995;0.993;0.993;0.998;1.0	T	0.43589	-0.9382	9	0.72032	D	0.01	.	16.7614	0.85513	0.0:1.0:0.0:0.0	.	237;237;237;237;237;237;237;237;237	Q13554-8;Q13554-7;Q13554-4;Q13554-3;Q13554-6;A4D2K5;Q13554-5;Q13554;Q13554-2	.;.;.;.;.;.;.;KCC2B_HUMAN;.	K	237;237;237;108;237;237;237;237;237;237;237	ENSP00000326375:E237K;ENSP00000390292:E237K;ENSP00000379098:E237K;ENSP00000422416:E108K;ENSP00000397937:E237K;ENSP00000351542:E237K;ENSP00000326427:E237K;ENSP00000326544:E237K;ENSP00000326518:E237K;ENSP00000258682:E237K;ENSP00000379096:E237K	ENSP00000258682:E237K	E	-	1	0	CAMK2B	44248452	1.000000	0.71417	0.968000	0.41197	0.447000	0.32167	5.775000	0.68915	2.277000	0.76020	0.563000	0.77884	GAG		0.607	CAMK2B-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251138.2	NM_172084		8	96	0	0	0	0.008291	0	8	96				
OGDH	4967	broad.mit.edu	37	7	44747304	44747304	+	Missense_Mutation	SNP	C	C	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr7:44747304C>T	ENST00000222673.5	+	22	2962	c.2920C>T	c.(2920-2922)Cgg>Tgg	p.R974W	OGDH_ENST00000543843.1_Missense_Mutation_p.R925W|OGDH_ENST00000447398.1_Missense_Mutation_p.R985W|OGDH_ENST00000444676.1_Missense_Mutation_p.R989W|OGDH_ENST00000449767.1_Missense_Mutation_p.R970W|OGDH_ENST00000439616.2_Missense_Mutation_p.R824W	NM_002541.3	NP_002532.2	Q02218	ODO1_HUMAN	oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)	974					2-oxoglutarate metabolic process (GO:0006103)|cellular metabolic process (GO:0044237)|cellular nitrogen compound metabolic process (GO:0034641)|cerebellar cortex development (GO:0021695)|generation of precursor metabolites and energy (GO:0006091)|glycolytic process (GO:0006096)|hippocampus development (GO:0021766)|lysine catabolic process (GO:0006554)|NADH metabolic process (GO:0006734)|olfactory bulb mitral cell layer development (GO:0061034)|pyramidal neuron development (GO:0021860)|small molecule metabolic process (GO:0044281)|striatum development (GO:0021756)|succinyl-CoA metabolic process (GO:0006104)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)|thalamus development (GO:0021794)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrion (GO:0005739)|oxoglutarate dehydrogenase complex (GO:0045252)	metal ion binding (GO:0046872)|oxoglutarate dehydrogenase (NAD+) activity (GO:0034602)|oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)			breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36					Valproic Acid(DB00313)	GCCAAGACTTCGGACCACCAT	0.607																																							uc003tln.2		NA																	0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(2920-2922)CGG>TGG		oxoglutarate dehydrogenase isoform 1 precursor	NADH(DB00157)						97.0	79.0	85.0					7																	44747304		2203	4300	6503	SO:0001583	missense	4967				glycolysis|lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|mitochondrial membrane	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding	g.chr7:44747304C>T	D10523	CCDS34627.1, CCDS47580.1, CCDS55107.1	7p13-p11.2	2010-11-23			ENSG00000105953	ENSG00000105953	1.2.4.2		8124	protein-coding gene	gene with protein product		613022				8020988, 1542694	Standard	NM_002541		Approved	E1k	uc003tln.3	Q02218	OTTHUMG00000155304	ENST00000222673.5:c.2920C>T	7.37:g.44747304C>T	ENSP00000222673:p.Arg974Trp					OGDH_uc011kbx.1_Missense_Mutation_p.R970W|OGDH_uc011kby.1_Missense_Mutation_p.R824W|OGDH_uc003tlp.2_Missense_Mutation_p.R985W|OGDH_uc011kbz.1_Missense_Mutation_p.R769W	p.R974W	NM_002541	NP_002532	Q02218	ODO1_HUMAN			22	3029	+			974					B4E2U9|D3DVL0|E9PBM1|Q96DD3|Q9UDX0	Missense_Mutation	SNP	ENST00000222673.5	37	c.2920C>T	CCDS34627.1	.	.	.	.	.	.	.	.	.	.	C	19.54	3.846149	0.71603	.	.	ENSG00000105953	ENST00000439616;ENST00000449767;ENST00000447398;ENST00000444676;ENST00000222673;ENST00000543843	T;T;T;T;T;T	0.11821	2.74;2.74;2.74;2.74;2.74;2.74	5.46	4.58	0.56647	.	0.056564	0.64402	D	0.000001	T	0.25754	0.0627	M	0.67397	2.05	0.52099	D	0.999942	D;D;D;D;D	0.69078	0.995;0.997;0.989;0.989;0.991	P;P;P;P;P	0.51657	0.586;0.676;0.586;0.586;0.586	T	0.02232	-1.1191	10	0.54805	T	0.06	-33.0985	13.7543	0.62926	0.0:0.9246:0.0:0.0754	.	769;824;970;985;974	B4E3E9;E9PFG7;E9PBM1;E9PDF2;Q02218	.;.;.;.;ODO1_HUMAN	W	824;970;985;989;974;925	ENSP00000398576:R824W;ENSP00000392878:R970W;ENSP00000388183:R985W;ENSP00000414662:R989W;ENSP00000222673:R974W;ENSP00000443821:R925W	ENSP00000222673:R974W	R	+	1	2	OGDH	44713829	0.988000	0.35896	0.703000	0.30354	0.995000	0.86356	2.915000	0.48805	1.290000	0.44636	0.491000	0.48974	CGG		0.607	OGDH-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000339391.1			9	69	0	0	0	0.006214	0	9	69				
ZMIZ2	83637	broad.mit.edu	37	7	44801331	44801331	+	Missense_Mutation	SNP	G	G	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr7:44801331G>A	ENST00000309315.4	+	11	1546	c.1423G>A	c.(1423-1425)Gag>Aag	p.E475K	ZMIZ2_ENST00000433667.1_Missense_Mutation_p.E443K|ZMIZ2_ENST00000265346.7_Missense_Mutation_p.E449K|ZMIZ2_ENST00000413916.1_Missense_Mutation_p.E417K|ZMIZ2_ENST00000441627.1_Missense_Mutation_p.E475K	NM_031449.3	NP_113637.3	Q8NF64	ZMIZ2_HUMAN	zinc finger, MIZ-type containing 2	475	Interaction with AR.				positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nuclear replication fork (GO:0043596)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|zinc ion binding (GO:0008270)			breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						CTACCACCACGAGGACCGGCA	0.602																																					NSCLC(20;604 852 1948 16908 50522)	NSCLC(20;604 852 1948 16908 50522)	uc003tlr.2		NA																	0				ovary(2)|large_intestine(2)|breast(1)	5						c.(1423-1425)GAG>AAG		zinc finger, MIZ-type containing 2 isoform 1							55.0	58.0	57.0					7																	44801331		2203	4300	6503	SO:0001583	missense	83637				positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear replication fork	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding	g.chr7:44801331G>A	AK090415	CCDS43576.1, CCDS43577.1, CCDS75591.1	7p13	2009-11-06			ENSG00000122515	ENSG00000122515		"""Zinc fingers, MIZ-type"""	22229	protein-coding gene	gene with protein product		611196					Standard	XM_005249866		Approved	KIAA1886, hZIMP7, ZIMP7, DKFZp761I2123, NET27	uc003tlr.3	Q8NF64	OTTHUMG00000155817	ENST00000309315.4:c.1423G>A	7.37:g.44801331G>A	ENSP00000311778:p.Glu475Lys					ZMIZ2_uc003tlq.2_Missense_Mutation_p.E417K|ZMIZ2_uc003tls.2_Missense_Mutation_p.E449K|ZMIZ2_uc003tlt.2_Missense_Mutation_p.E98K|ZMIZ2_uc010kyj.2_5'UTR	p.E475K	NM_031449	NP_113637	Q8NF64	ZMIZ2_HUMAN			11	1546	+			475			Interaction with AR.		A4D2K7|D3DVL1|O94790|Q0VGB4|Q659A8|Q6JKL5|Q8WTX8|Q96Q01|Q9BQH7	Missense_Mutation	SNP	ENST00000309315.4	37	c.1423G>A	CCDS43576.1	.	.	.	.	.	.	.	.	.	.	G	37	6.124968	0.97305	.	.	ENSG00000122515	ENST00000413916;ENST00000309315;ENST00000441627;ENST00000433667;ENST00000265346;ENST00000414051	T;T;T;T;T	0.41065	1.01;1.01;1.01;1.01;1.01	4.73	4.73	0.59995	.	0.000000	0.64402	D	0.000011	T	0.63438	0.2511	M	0.71581	2.175	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;P;D	0.69307	0.963;0.877;0.963	T	0.66044	-0.6021	10	0.52906	T	0.07	-16.0379	17.4928	0.87709	0.0:0.0:1.0:0.0	.	449;475;417	Q8NF64-2;Q8NF64;Q8NF64-3	.;ZMIZ2_HUMAN;.	K	417;475;475;443;449;475	ENSP00000409648:E417K;ENSP00000311778:E475K;ENSP00000414723:E475K;ENSP00000396601:E443K;ENSP00000265346:E449K	ENSP00000265346:E449K	E	+	1	0	ZMIZ2	44767856	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	9.131000	0.94446	2.444000	0.82710	0.655000	0.94253	GAG		0.602	ZMIZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341790.1	NM_031449		17	23	0	0	0	0.004007	0	17	23				
ZNF479	90827	broad.mit.edu	37	7	57187809	57187809	+	Missense_Mutation	SNP	T	T	G			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr7:57187809T>G	ENST00000331162.4	-	5	1583	c.1313A>C	c.(1312-1314)aAa>aCa	p.K438T		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	438					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			TTCTTCACATTTGTAGGGTCT	0.453																																							uc010kzo.2		NA																	0				ovary(3)|skin(1)	4						c.(1312-1314)AAA>ACA		zinc finger protein 479							15.0	13.0	14.0					7																	57187809		1651	3694	5345	SO:0001583	missense	90827				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:57187809T>G	AF277624	CCDS43590.1	7p11.2	2013-01-08			ENSG00000185177	ENSG00000185177		"""Zinc fingers, C2H2-type"", ""-"""	23258	protein-coding gene	gene with protein product						11410164	Standard	NM_033273		Approved	KR19	uc010kzo.3	Q96JC4	OTTHUMG00000156682	ENST00000331162.4:c.1313A>C	7.37:g.57187809T>G	ENSP00000333776:p.Lys438Thr						p.K438T	NM_033273	NP_150376	Q96JC4	ZN479_HUMAN	GBM - Glioblastoma multiforme(1;9.18e-12)		5	1584	-			438			C2H2-type 10.			Missense_Mutation	SNP	ENST00000331162.4	37	c.1313A>C	CCDS43590.1	.	.	.	.	.	.	.	.	.	.	N	0.007	-1.944203	0.00479	.	.	ENSG00000185177	ENST00000331162	T	0.58060	0.36	0.955	-1.91	0.07641	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.32133	0.0819	N	0.20574	0.59	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.10497	-1.0627	9	0.59425	D	0.04	.	4.2411	0.10648	0.1773:0.0:0.4807:0.342	.	438	Q96JC4	ZN479_HUMAN	T	438	ENSP00000333776:K438T	ENSP00000333776:K438T	K	-	2	0	ZNF479	57191751	0.000000	0.05858	0.013000	0.15412	0.012000	0.07955	-1.673000	0.01951	-4.325000	0.00056	-4.471000	0.00005	AAA		0.453	ZNF479-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345302.1	XM_291202		5	72	0	0	0	0.001168	0	5	72				
PCLO	27445	broad.mit.edu	37	7	82584891	82584891	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr7:82584891C>A	ENST00000333891.9	-	5	5715	c.5378G>T	c.(5377-5379)aGg>aTg	p.R1793M	PCLO_ENST00000423517.2_Missense_Mutation_p.R1793M	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						TTCTATTTCCCTCTGCTTTTC	0.393																																							uc003uhx.2		NA																	0				ovary(7)	7						c.(5377-5379)AGG>ATG		piccolo isoform 1							105.0	97.0	99.0					7																	82584891		1834	4083	5917	SO:0001583	missense	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82584891C>A	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.5378G>T	7.37:g.82584891C>A	ENSP00000334319:p.Arg1793Met					PCLO_uc003uhv.2_Missense_Mutation_p.R1793M	p.R1793M	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN			5	5667	-			1724						Missense_Mutation	SNP	ENST00000333891.9	37	c.5378G>T	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	C	8.581	0.882409	0.17467	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.42131	0.98;1.01	5.56	5.56	0.83823	.	.	.	.	.	T	0.41511	0.1162	N	0.24115	0.695	0.80722	D	1	P;P	0.47191	0.891;0.891	P;P	0.47299	0.543;0.543	T	0.40757	-0.9546	9	0.87932	D	0	.	19.5207	0.95184	0.0:1.0:0.0:0.0	.	1793;1793	Q9Y6V0-5;Q9Y6V0-6	.;.	M	1724;1793;1793	ENSP00000334319:R1793M;ENSP00000388393:R1793M	ENSP00000334319:R1793M	R	-	2	0	PCLO	82422827	1.000000	0.71417	0.996000	0.52242	0.975000	0.68041	4.455000	0.60075	2.614000	0.88457	0.650000	0.86243	AGG		0.393	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		23	19	1	0	1.50039e-11	0.001882	1.90188e-11	23	19				
PCLO	27445	broad.mit.edu	37	7	82584893	82584893	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr7:82584893C>A	ENST00000333891.9	-	5	5713	c.5376G>T	c.(5374-5376)caG>caT	p.Q1792H	PCLO_ENST00000423517.2_Missense_Mutation_p.Q1792H	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						CTATTTCCCTCTGCTTTTCTT	0.398																																							uc003uhx.2		NA																	0				ovary(7)	7						c.(5374-5376)CAG>CAT		piccolo isoform 1							102.0	95.0	97.0					7																	82584893		1836	4085	5921	SO:0001583	missense	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82584893C>A	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.5376G>T	7.37:g.82584893C>A	ENSP00000334319:p.Gln1792His					PCLO_uc003uhv.2_Missense_Mutation_p.Q1792H	p.Q1792H	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN			5	5665	-			1723						Missense_Mutation	SNP	ENST00000333891.9	37	c.5376G>T	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	C	5.626	0.300291	0.10678	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.18016	2.24;2.24	5.56	0.348	0.16026	.	.	.	.	.	T	0.22898	0.0553	N	0.19112	0.55	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.69479	0.964;0.964	T	0.02588	-1.1137	9	0.87932	D	0	.	11.5696	0.50826	0.0:0.5152:0.0:0.4848	.	1792;1792	Q9Y6V0-5;Q9Y6V0-6	.;.	H	1723;1792;1792	ENSP00000334319:Q1792H;ENSP00000388393:Q1792H	ENSP00000334319:Q1792H	Q	-	3	2	PCLO	82422829	0.990000	0.36364	0.996000	0.52242	0.981000	0.71138	0.293000	0.19029	0.118000	0.18165	0.650000	0.86243	CAG		0.398	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		20	20	1	0	5.03518e-11	0.007413	6.33479e-11	20	20				
SEMA3E	9723	broad.mit.edu	37	7	83022004	83022004	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr7:83022004C>A	ENST00000307792.3	-	14	2001	c.1534G>T	c.(1534-1536)Gct>Tct	p.A512S	SEMA3E_ENST00000427262.1_Missense_Mutation_p.A452S	NM_012431.2	NP_036563.1	O15041	SEM3E_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E	512	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell-matrix adhesion (GO:0001953)|patterning of blood vessels (GO:0001569)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of cell shape (GO:0008360)|semaphorin-plexin signaling pathway (GO:0071526)|sprouting angiogenesis (GO:0002040)|synapse organization (GO:0050808)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)	receptor activity (GO:0004872)			breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51		Medulloblastoma(109;0.109)				CTGACTTGAGCCACAGCAGAA	0.473																																							uc003uhy.1		NA																	0				ovary(3)	3						c.(1534-1536)GCT>TCT		semaphorin 3E precursor							107.0	92.0	97.0					7																	83022004		2203	4300	6503	SO:0001583	missense	9723				axon guidance	extracellular space|membrane	receptor activity	g.chr7:83022004C>A	AB002329	CCDS34674.1, CCDS55121.1	7q21.11	2013-01-11			ENSG00000170381	ENSG00000170381		"""Semaphorins"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10727	protein-coding gene	gene with protein product	"""M-sema H"""	608166		SEMAH		9205841, 9515811	Standard	NM_012431		Approved	M-SemaK, KIAA0331, coll-5	uc003uhy.2	O15041	OTTHUMG00000154693	ENST00000307792.3:c.1534G>T	7.37:g.83022004C>A	ENSP00000303212:p.Ala512Ser						p.A512S	NM_012431	NP_036563	O15041	SEM3E_HUMAN			14	2000	-		Medulloblastoma(109;0.109)	512			Sema.		B4E1P1|Q75M94|Q75M97	Missense_Mutation	SNP	ENST00000307792.3	37	c.1534G>T	CCDS34674.1	.	.	.	.	.	.	.	.	.	.	C	16.67	3.186391	0.57909	.	.	ENSG00000170381	ENST00000307792;ENST00000427262;ENST00000541514	T;T	0.21191	2.02;2.02	5.32	5.32	0.75619	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (2);	0.053527	0.85682	D	0.000000	T	0.28764	0.0713	L	0.39397	1.21	0.47905	D	0.999547	B	0.33198	0.401	B	0.43658	0.426	T	0.02257	-1.1187	10	0.27082	T	0.32	.	19.3565	0.94416	0.0:1.0:0.0:0.0	.	512	O15041	SEM3E_HUMAN	S	512;452;512	ENSP00000303212:A512S;ENSP00000405052:A452S	ENSP00000303212:A512S	A	-	1	0	SEMA3E	82859940	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	4.883000	0.63128	2.652000	0.90054	0.585000	0.79938	GCT		0.473	SEMA3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336606.1	NM_012431		41	23	1	0	8.86878e-18	0.00361	1.24114e-17	41	23				
CLDN12	9069	broad.mit.edu	37	7	90042003	90042003	+	Missense_Mutation	SNP	G	G	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr7:90042003G>A	ENST00000287916.4	+	3	300	c.13G>A	c.(13-15)Gat>Aat	p.D5N	CTB-13L3.1_ENST00000480135.1_RNA|CLDN12_ENST00000535571.1_Missense_Mutation_p.D5N|CLDN12_ENST00000394605.2_Missense_Mutation_p.D5N	NM_001185073.2|NM_012129.4	NP_001172002.1|NP_036261.1	P56749	CLD12_HUMAN	claudin 12	5					calcium-independent cell-cell adhesion (GO:0016338)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|tight junction assembly (GO:0070830)	integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			breast(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)	15						GGGCTGTCGGGATGTCCACGC	0.532																																							uc003ukp.2		NA																	0					0						c.(13-15)GAT>AAT		claudin 12							97.0	86.0	90.0					7																	90042003		2203	4300	6503	SO:0001583	missense	9069				calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity	g.chr7:90042003G>A	AJ250713	CCDS5618.1	7q21	2008-07-18			ENSG00000157224	ENSG00000157224		"""Claudins"""	2034	protein-coding gene	gene with protein product		611232					Standard	NM_001185072		Approved		uc003ukr.3	P56749	OTTHUMG00000156612	ENST00000287916.4:c.13G>A	7.37:g.90042003G>A	ENSP00000287916:p.Asp5Asn					CLDN12_uc003ukq.2_Missense_Mutation_p.D5N|CLDN12_uc010leq.2_Missense_Mutation_p.D5N|CLDN12_uc003ukr.2_Missense_Mutation_p.D5N|CLDN12_uc003uks.2_Missense_Mutation_p.D5N	p.D5N	NM_012129	NP_036261	P56749	CLD12_HUMAN			5	649	+			5			Cytoplasmic (Potential).		D6W5Q4|Q7LDZ0	Missense_Mutation	SNP	ENST00000287916.4	37	c.13G>A	CCDS5618.1	.	.	.	.	.	.	.	.	.	.	G	17.66	3.445084	0.63178	.	.	ENSG00000157224	ENST00000422604;ENST00000416322;ENST00000496677;ENST00000287916;ENST00000535571;ENST00000394604;ENST00000394605;ENST00000427904	T;T;T;T;T;T;T	0.80033	-0.86;-1.03;-1.03;-1.03;-0.84;-1.03;-1.33	5.24	4.35	0.52113	.	0.045944	0.85682	D	0.000000	T	0.73125	0.3547	L	0.27053	0.805	0.58432	D	0.999998	P	0.40731	0.728	B	0.40285	0.325	T	0.77472	-0.2575	10	0.87932	D	0	-11.6623	15.9268	0.79624	0.0:0.1354:0.8646:0.0	.	5	P56749	CLD12_HUMAN	N	5	ENSP00000411399:D5N;ENSP00000419053:D5N;ENSP00000287916:D5N;ENSP00000443476:D5N;ENSP00000378102:D5N;ENSP00000378103:D5N;ENSP00000391062:D5N	ENSP00000287916:D5N	D	+	1	0	CLDN12	89879939	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.047000	0.76599	1.433000	0.47394	0.561000	0.74099	GAT		0.532	CLDN12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059221.1	NM_012129		31	39	0	0	0	0.006999	0	31	39				
TSC22D4	81628	broad.mit.edu	37	7	100075039	100075039	+	Missense_Mutation	SNP	C	C	G	rs192378539		TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr7:100075039C>G	ENST00000300181.2	-	2	1377	c.623G>C	c.(622-624)cGg>cCg	p.R208P	TSC22D4_ENST00000393991.1_5'UTR|TSC22D4_ENST00000496728.1_5'UTR	NM_030935.3	NP_112197.1	Q9Y3Q8	T22D4_HUMAN	TSC22 domain family, member 4	208					negative regulation of transcription, DNA-templated (GO:0045892)|response to osmotic stress (GO:0006970)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|urinary_tract(1)	8	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CGTGGCAGCCCGGGATGTGCC	0.692																																							uc003uva.2		NA																	0				breast(2)	2						c.(622-624)CGG>CCG		TSC22 domain family, member 4							17.0	19.0	18.0					7																	100075039		2203	4298	6501	SO:0001583	missense	81628				negative regulation of transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding transcription factor activity	g.chr7:100075039C>G	BC010406	CCDS5695.1	7p21-p15	2010-04-30			ENSG00000166925	ENSG00000166925			21696	protein-coding gene	gene with protein product		611914					Standard	NM_030935		Approved	THG-1, TILZ2	uc003uva.3	Q9Y3Q8	OTTHUMG00000150233	ENST00000300181.2:c.623G>C	7.37:g.100075039C>G	ENSP00000300181:p.Arg208Pro					TSC22D4_uc003uvb.2_5'UTR|TSC22D4_uc011kjv.1_5'UTR|TSC22D4_uc010lgx.2_Missense_Mutation_p.R208P|TSC22D4_uc003uvc.3_Missense_Mutation_p.R208P	p.R208P	NM_030935	NP_112197	Q9Y3Q8	T22D4_HUMAN			2	1378	-	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		208					A4D2C3|A8MWR6|D6W5V9	Missense_Mutation	SNP	ENST00000300181.2	37	c.623G>C	CCDS5695.1	.	.	.	.	.	.	.	.	.	.	C	6.994	0.553623	0.13374	.	.	ENSG00000166925	ENST00000300181	.	.	.	4.7	-0.399	0.12415	.	0.453294	0.13959	N	0.350965	T	0.15305	0.0369	N	0.14661	0.345	0.20489	N	0.999898	B;B	0.06786	0.0;0.001	B;B	0.04013	0.001;0.001	T	0.15206	-1.0445	9	0.35671	T	0.21	-0.2296	0.1271	0.00070	0.2732:0.2612:0.1599:0.3056	.	208;208	Q8IV54;Q9Y3Q8	.;T22D4_HUMAN	P	208	.	ENSP00000300181:R208P	R	-	2	0	TSC22D4	99912975	0.000000	0.05858	0.051000	0.19133	0.015000	0.08874	-0.044000	0.12023	0.022000	0.15160	0.478000	0.44815	CGG		0.692	TSC22D4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316970.1	NM_030935		9	8	0	0	0	0.004482	0	9	8				
MUC17	140453	broad.mit.edu	37	7	100693917	100693917	+	Splice_Site	SNP	G	G	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr7:100693917G>T	ENST00000306151.4	+	7	12938		c.e7+1			NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated						cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					ATTTGCTCAGGTGAACTCTGG	0.463																																							uc003uxp.1		NA																	0				ovary(14)|skin(8)|breast(3)|lung(2)	27						c.e7+1		mucin 17 precursor							66.0	60.0	62.0					7																	100693917		2203	4300	6503	SO:0001630	splice_region_variant	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100693917G>T	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.12874+1G>T	7.37:g.100693917G>T						MUC17_uc010lho.1_Intron	p.D4292_splice	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN			7	12927	+	Lung NSC(181;0.136)|all_lung(186;0.182)							O14761|Q685J2|Q8TDH7	Splice_Site	SNP	ENST00000306151.4	37	c.12874_splice	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	G	10.51	1.370792	0.24771	.	.	ENSG00000169876	ENST00000306151	.	.	.	4.06	4.06	0.47325	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.4266	0.55551	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MUC17	100480637	0.833000	0.29383	0.033000	0.17914	0.006000	0.05464	3.490000	0.53245	2.201000	0.70794	0.655000	0.94253	.		0.463	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105	Intron	11	10	1	0	0.00010058	0.001368	0.000109595	11	10				
RELN	5649	broad.mit.edu	37	7	103163886	103163886	+	Missense_Mutation	SNP	C	C	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr7:103163886C>T	ENST00000428762.1	-	47	7601	c.7442G>A	c.(7441-7443)tGc>tAc	p.C2481Y	RELN_ENST00000343529.5_Missense_Mutation_p.C2481Y|RELN_ENST00000424685.2_Missense_Mutation_p.C2481Y	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	2481	EGF-like 6. {ECO:0000255|PROSITE- ProRule:PRU00076}.				associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		CATGTCTATGCAGCCATCCCC	0.478																																					NSCLC(146;835 1944 15585 22231 52158)	NSCLC(146;835 1944 15585 22231 52158)	uc003vca.2		NA																	0				ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1)	19						c.(7441-7443)TGC>TAC		reelin isoform a							167.0	153.0	158.0					7																	103163886		2203	4300	6503	SO:0001583	missense	5649				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	g.chr7:103163886C>T		CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.7442G>A	7.37:g.103163886C>T	ENSP00000392423:p.Cys2481Tyr					RELN_uc010liz.2_Missense_Mutation_p.C2481Y	p.C2481Y	NM_005045	NP_005036	P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	47	7602	-			2481			EGF-like 6.		A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Missense_Mutation	SNP	ENST00000428762.1	37	c.7442G>A	CCDS47680.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.872377	0.91587	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000448171	T;T;T	0.49432	0.78;0.78;0.78	5.55	5.55	0.83447	Neuraminidase (1);	0.000000	0.85682	D	0.000000	T	0.79003	0.4373	H	0.94698	3.57	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.97110	1.0;0.998	D	0.84836	0.0805	10	0.87932	D	0	.	19.5283	0.95215	0.0:1.0:0.0:0.0	.	2481;2481	P78509-2;P78509	.;RELN_HUMAN	Y	2481	ENSP00000392423:C2481Y;ENSP00000345694:C2481Y;ENSP00000388446:C2481Y	ENSP00000345694:C2481Y	C	-	2	0	RELN	102951122	1.000000	0.71417	0.967000	0.41034	0.995000	0.86356	7.487000	0.81328	2.596000	0.87737	0.655000	0.94253	TGC		0.478	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045		22	79	0	0	0	0.005443	0	22	79				
ATP6V1F	9296	broad.mit.edu	37	7	128505563	128505563	+	Silent	SNP	A	A	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr7:128505563A>T	ENST00000249289.4	+	2	370	c.291A>T	c.(289-291)ccA>ccT	p.P97P	RP11-309L24.2_ENST00000469965.1_RNA|RP11-309L24.4_ENST00000461420.1_lincRNA|ATP6V1F_ENST00000492758.1_Silent_p.P125P	NM_004231.3	NP_004222.2	Q16864	VATF_HUMAN	ATPase, H+ transporting, lysosomal 14kDa, V1 subunit F	97					ATP catabolic process (GO:0006200)|ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|proton transport (GO:0015992)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|proton-transporting two-sector ATPase complex (GO:0016469)|proton-transporting V-type ATPase, V1 domain (GO:0033180)|vacuolar proton-transporting V-type ATPase complex (GO:0016471)	ATPase activity, uncoupled (GO:0042624)|hydrogen ion transmembrane transporter activity (GO:0015078)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)			lung(1)|ovary(1)|prostate(1)	3						AGGAGCACCCATATGACGCCG	0.632																																							uc003voc.1		NA																	0				ovary(1)	1						c.(289-291)CCA>CCT		ATPase, H+ transporting, lysosomal 14kD, V1							49.0	48.0	48.0					7																	128505563		2203	4300	6503	SO:0001819	synonymous_variant	9296				ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|membrane fraction|proton-transporting V-type ATPase, V1 domain|vacuolar proton-transporting V-type ATPase complex	ATPase activity, uncoupled|hydrogen ion transporting ATP synthase activity, rotational mechanism|protein binding|proton-transporting ATPase activity, rotational mechanism	g.chr7:128505563A>T	D49400	CCDS5807.1, CCDS56511.1	7q32.1	2010-04-21	2002-08-29		ENSG00000128524	ENSG00000128524	3.6.3.14	"""ATPases / V-type"""	16832	protein-coding gene	gene with protein product		607160				8581736, 8621738	Standard	NM_004231		Approved	ATP6S14, VATF, Vma7	uc022all.1	Q16864	OTTHUMG00000158365	ENST00000249289.4:c.291A>T	7.37:g.128505563A>T						KCP_uc003vob.1_Intron	p.P97P	NM_004231	NP_004222	Q16864	VATF_HUMAN			2	352	+			97					C9J2K4|Q6IBA8	Silent	SNP	ENST00000249289.4	37	c.291A>T	CCDS5807.1																																																																																				0.632	ATP6V1F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350800.1	NM_004231		19	12	0	0	0	0.00278	0	19	12				
STRIP2	57464	broad.mit.edu	37	7	129120676	129120676	+	Missense_Mutation	SNP	C	C	G			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr7:129120676C>G	ENST00000249344.2	+	19	2035	c.1995C>G	c.(1993-1995)atC>atG	p.I665M	STRIP2_ENST00000435494.2_Missense_Mutation_p.I665M	NM_020704.2	NP_065755.1	Q9ULQ0	STRP2_HUMAN	striatin interacting protein 2	665					cell migration (GO:0016477)|cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)											TTTCCTGCATCAACCTCCTGA	0.433																																							uc011koy.1		NA																	0					0						c.(1993-1995)ATC>ATG		hypothetical protein LOC57464 isoform a							161.0	148.0	153.0					7																	129120676		2203	4300	6503	SO:0001583	missense	57464							g.chr7:129120676C>G	AB032996	CCDS34752.1, CCDS47709.1	7q32.3	2012-11-05	2012-11-05	2012-11-05	ENSG00000128578	ENSG00000128578			22209	protein-coding gene	gene with protein product	"""FAR11 factor arrest 11 homolog B (yeast)"""		"""family with sequence similarity 40, member B"""	FAM40B		22782902, 22298706, 18782753	Standard	NM_020704		Approved	KIAA1170, FAR11B	uc011koy.2	Q9ULQ0	OTTHUMG00000157695	ENST00000249344.2:c.1995C>G	7.37:g.129120676C>G	ENSP00000249344:p.Ile665Met					FAM40B_uc003vow.2_Missense_Mutation_p.I665M|FAM40B_uc011koz.1_Missense_Mutation_p.I157M	p.I665M	NM_020704	NP_065755	Q9ULQ0	FA40B_HUMAN			19	2035	+			665					Q8WUZ4	Missense_Mutation	SNP	ENST00000249344.2	37	c.1995C>G	CCDS34752.1	.	.	.	.	.	.	.	.	.	.	C	17.26	3.344619	0.61073	.	.	ENSG00000128578	ENST00000249344;ENST00000435494	T;T	0.56103	0.48;0.49	5.83	4.95	0.65309	.	0.000000	0.85682	D	0.000000	T	0.75568	0.3867	M	0.92649	3.33	0.80722	D	1	D;D	0.89917	0.997;1.0	D;D	0.83275	0.996;0.995	T	0.79117	-0.1935	10	0.87932	D	0	-21.6327	7.6622	0.28410	0.0:0.7536:0.0:0.2464	.	665;665	Q9ULQ0;Q9ULQ0-2	FA40B_HUMAN;.	M	665	ENSP00000249344:I665M;ENSP00000392393:I665M	ENSP00000249344:I665M	I	+	3	3	FAM40B	128907912	0.915000	0.31059	1.000000	0.80357	0.998000	0.95712	0.046000	0.14035	1.493000	0.48517	0.650000	0.86243	ATC		0.433	STRIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349418.1	NM_001134336		19	81	0	0	0	0.002299	0	19	81				
PLXNA4	91584	broad.mit.edu	37	7	131844347	131844347	+	Silent	SNP	G	G	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr7:131844347G>T	ENST00000359827.3	-	25	5507	c.4545C>A	c.(4543-4545)gtC>gtA	p.V1515V	PLXNA4_ENST00000321063.4_Silent_p.V1515V			Q9HCM2	PLXA4_HUMAN	plexin A4	1515					anterior commissure morphogenesis (GO:0021960)|axon guidance (GO:0007411)|chemorepulsion of branchiomotor axon (GO:0021793)|facial nerve structural organization (GO:0021612)|glossopharyngeal nerve morphogenesis (GO:0021615)|postganglionic parasympathetic nervous system development (GO:0021784)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of negative chemotaxis (GO:0050923)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|sympathetic nervous system development (GO:0048485)|trigeminal nerve structural organization (GO:0021637)|vagus nerve morphogenesis (GO:0021644)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)			NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						TCTTTACTGGGACCTCGGGGC	0.532																																							uc003vra.3		NA																	0				ovary(1)	1						c.(4543-4545)GTC>GTA		plexin A4 isoform 1							243.0	250.0	248.0					7																	131844347		2192	4299	6491	SO:0001819	synonymous_variant	91584					integral to membrane|intracellular|plasma membrane		g.chr7:131844347G>T	AB046770, AK123428	CCDS5826.1, CCDS43646.1, CCDS43647.1	7q32.3	2007-09-26	2007-09-26	2007-09-26	ENSG00000221866	ENSG00000221866		"""Plexins"""	9102	protein-coding gene	gene with protein product		604280	"""plexin A4, A"", ""plexin A4, B"""	PLXNA4A, PLXNA4B			Standard	NM_181775		Approved	KIAA1550, DKFZp434G0625PRO34003, FAYV2820	uc003vra.4	Q9HCM2	OTTHUMG00000155108	ENST00000359827.3:c.4545C>A	7.37:g.131844347G>T							p.V1515V	NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN			25	4774	-			1515			Cytoplasmic (Potential).		A4D1N6|E9PAM2|Q6UWC6|Q6ZW89|Q8N969|Q8ND00|Q8NEN3|Q9NTD4	Silent	SNP	ENST00000359827.3	37	c.4545C>A	CCDS43646.1																																																																																				0.532	PLXNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338422.2	NM_181775		149	78	1	0	2.1406e-88	0.00361	3.51198e-88	149	78				
NUP205	23165	broad.mit.edu	37	7	135322691	135322691	+	Nonsense_Mutation	SNP	G	G	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr7:135322691G>T	ENST00000285968.6	+	37	5175	c.5149G>T	c.(5149-5151)Gga>Tga	p.G1717*		NM_015135.2	NP_055950	Q92621	NU205_HUMAN	nucleoporin 205kDa	1717					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						CCAGTGCTTAGGACTACTAAG	0.373																																							uc003vsw.2		NA																	0				ovary(3)|breast(1)|central_nervous_system(1)|skin(1)	6						c.(5149-5151)GGA>TGA		nucleoporin 205kDa							103.0	100.0	101.0					7																	135322691		2203	4300	6503	SO:0001587	stop_gained	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.chr7:135322691G>T	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.5149G>T	7.37:g.135322691G>T	ENSP00000285968:p.Gly1717*					NUP205_uc003vsx.2_RNA	p.G1717*	NM_015135	NP_055950	Q92621	NU205_HUMAN			37	5180	+			1717					A6H8X3|Q86YC1	Nonsense_Mutation	SNP	ENST00000285968.6	37	c.5149G>T	CCDS34759.1	.	.	.	.	.	.	.	.	.	.	G	45	11.983361	0.99623	.	.	ENSG00000155561	ENST00000285968	.	.	.	5.58	5.58	0.84498	.	0.164522	0.53938	D	0.000055	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.25751	T	0.34	-4.3736	13.8142	0.63281	0.0731:0.0:0.9269:0.0	.	.	.	.	X	1717	.	ENSP00000285968:G1717X	G	+	1	0	NUP205	134973231	1.000000	0.71417	0.998000	0.56505	0.975000	0.68041	4.390000	0.59646	2.623000	0.88846	0.460000	0.39030	GGA		0.373	NUP205-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340358.1			5	30	1	0	0.00198382	0.001984	0.00208943	5	30				
SLC13A4	26266	broad.mit.edu	37	7	135376299	135376299	+	Missense_Mutation	SNP	C	C	G			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr7:135376299C>G	ENST00000354042.4	-	12	2004	c.1315G>C	c.(1315-1317)Gat>Cat	p.D439H	C7orf73_ENST00000422968.1_Intron	NM_012450.2	NP_036582.2	Q9UKG4	S13A4_HUMAN	solute carrier family 13 (sodium/sulfate symporter), member 4	439					sodium ion transmembrane transport (GO:0035725)|sulfate transport (GO:0008272)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	sodium:sulfate symporter activity (GO:0015382)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	24						CTCTCACCATCATTCTTTTTC	0.468																																							uc003vta.2		NA																	0					0						c.(1315-1317)GAT>CAT		solute carrier family 13 (sodium/sulfate							73.0	72.0	72.0					7																	135376299		2203	4300	6503	SO:0001583	missense	26266					integral to plasma membrane	sodium:sulfate symporter activity	g.chr7:135376299C>G	AF169301	CCDS5840.1	7q33	2013-07-18	2013-07-18		ENSG00000164707	ENSG00000164707		"""Solute carriers"""	15827	protein-coding gene	gene with protein product	"""sulphate transporter 1"""	604309	"""solute carrier family 13 (sodium/sulphate symporters), member 4"""			10535998	Standard	NM_012450		Approved	SUT-1, SUT1	uc003vta.3	Q9UKG4	OTTHUMG00000155539	ENST00000354042.4:c.1315G>C	7.37:g.135376299C>G	ENSP00000297282:p.Asp439His					SLC13A4_uc003vtb.2_Missense_Mutation_p.D440H|PL-5283_uc003vsz.3_Intron	p.D439H	NM_012450	NP_036582	Q9UKG4	S13A4_HUMAN			12	2004	-			439					A4D1Q4|Q8N631	Missense_Mutation	SNP	ENST00000354042.4	37	c.1315G>C	CCDS5840.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.976767	0.74360	.	.	ENSG00000164707	ENST00000354042	T	0.70399	-0.48	5.69	1.4	0.22301	.	0.659026	0.15512	N	0.258515	T	0.69450	0.3112	L	0.42245	1.32	0.18873	N	0.999987	P;P	0.52316	0.952;0.487	P;P	0.56163	0.793;0.502	T	0.58086	-0.7698	10	0.56958	D	0.05	.	5.6242	0.17473	0.0:0.5186:0.1395:0.3418	.	308;439	Q59HF0;Q9UKG4	.;S13A4_HUMAN	H	439	ENSP00000297282:D439H	ENSP00000297282:D439H	D	-	1	0	SLC13A4	135026839	0.001000	0.12720	0.002000	0.10522	0.885000	0.51271	0.177000	0.16801	0.360000	0.24265	-0.136000	0.14681	GAT		0.468	SLC13A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340558.1	NM_012450		7	27	0	0	0	0.001984	0	7	27				
CHRM2	1129	broad.mit.edu	37	7	136699780	136699780	+	Silent	SNP	C	C	A	rs78847341		TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr7:136699780C>A	ENST00000445907.2	+	3	696	c.168C>A	c.(166-168)acC>acA	p.T56T	hsa-mir-490_ENST00000425981.2_RNA|hsa-mir-490_ENST00000597642.1_RNA|hsa-mir-490_ENST00000592183.1_RNA|CHRM2_ENST00000320658.5_Silent_p.T56T|hsa-mir-490_ENST00000598184.1_RNA|hsa-mir-490_ENST00000439694.1_RNA|hsa-mir-490_ENST00000593789.1_RNA|hsa-mir-490_ENST00000586239.1_RNA|CHRM2_ENST00000401861.1_Silent_p.T56T|CHRM2_ENST00000397608.3_Silent_p.T56T|CHRM2_ENST00000453373.1_Silent_p.T56T|CHRM2_ENST00000402486.3_Silent_p.T56T	NM_001006627.1|NM_001006629.1	NP_001006628.1|NP_001006630.1	P08172	ACM2_HUMAN	cholinergic receptor, muscarinic 2	56					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|nervous system development (GO:0007399)|phospholipase C-activating G-protein coupled acetylcholine receptor signaling pathway (GO:0007207)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|regulation of heart contraction (GO:0008016)|response to virus (GO:0009615)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	G-protein coupled acetylcholine receptor activity (GO:0016907)			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68					Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Anisotropine Methylbromide(DB00517)|Aripiprazole(DB01238)|Atropine(DB00572)|Bethanechol(DB01019)|Brompheniramine(DB00835)|Carbachol(DB00411)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cocaine(DB00907)|Cryptenamine(DB00785)|Cyproheptadine(DB00434)|Darifenacin(DB00496)|Desipramine(DB01151)|Dicyclomine(DB00804)|Dimetindene(DB08801)|Diphenidol(DB01231)|Disopyramide(DB00280)|Doxacurium chloride(DB01135)|Doxepin(DB01142)|Ethopropazine(DB00392)|Fesoterodine(DB06702)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Methylscopolamine bromide(DB00462)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pancuronium(DB01337)|Paroxetine(DB00715)|Pethidine(DB00454)|Pilocarpine(DB01085)|Pipecuronium(DB01338)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Rocuronium(DB00728)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Tiotropium(DB01409)|Tolterodine(DB01036)|Triflupromazine(DB00508)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Tropicamide(DB00809)|Ziprasidone(DB00246)	ACCTCCAGACCGTCAACAATT	0.458																																							uc003vtf.1		NA																	0				ovary(4)|central_nervous_system(1)	5						c.(166-168)ACC>ACA		cholinergic receptor, muscarinic 2	Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium(DB01334)|Doxacurium chloride(DB01135)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)						210.0	177.0	188.0					7																	136699780		2203	4300	6503	SO:0001819	synonymous_variant	1129				activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|nervous system development|regulation of heart contraction|response to virus	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|protein binding	g.chr7:136699780C>A		CCDS5843.1	7q35-q36	2014-09-17			ENSG00000181072	ENSG00000181072		"""Cholinergic receptors"", ""GPCR / Class A : Cholinergic receptors, muscarinic"""	1951	protein-coding gene	gene with protein product	"""acetylcholine receptor, muscarinic 2"""	118493					Standard	NM_000739		Approved		uc003vtl.1	P08172	OTTHUMG00000155658	ENST00000445907.2:c.168C>A	7.37:g.136699780C>A						CHRM2_uc003vtg.1_Silent_p.T56T|CHRM2_uc003vtj.1_Silent_p.T56T|CHRM2_uc003vtk.1_Silent_p.T56T|CHRM2_uc003vtl.1_Silent_p.T56T|CHRM2_uc003vtm.1_Silent_p.T56T|CHRM2_uc003vti.1_Silent_p.T56T|CHRM2_uc003vto.1_Silent_p.T56T|CHRM2_uc003vtn.1_Silent_p.T56T|uc003vtp.1_Intron	p.T56T	NM_001006630	NP_001006631	P08172	ACM2_HUMAN			4	791	+			56			Cytoplasmic (By similarity).		Q4VBK6|Q9P1X9	Silent	SNP	ENST00000445907.2	37	c.168C>A	CCDS5843.1																																																																																				0.458	CHRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341010.1			56	35	1	0	4.09171e-25	0.00361	6.1073e-25	56	35				
CHRM2	1129	broad.mit.edu	37	7	136700015	136700016	+	Missense_Mutation	DNP	CG	CG	AA			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	CG	CG	-	-	CG	CG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr7:136700015_136700016CG>AA	ENST00000445907.2	+	3	931_932	c.403_404CG>AA	c.(403-405)CGg>AAg	p.R135K	hsa-mir-490_ENST00000425981.2_RNA|hsa-mir-490_ENST00000597642.1_RNA|hsa-mir-490_ENST00000592183.1_RNA|CHRM2_ENST00000320658.5_Missense_Mutation_p.R135K|hsa-mir-490_ENST00000598184.1_RNA|hsa-mir-490_ENST00000439694.1_RNA|hsa-mir-490_ENST00000593789.1_RNA|hsa-mir-490_ENST00000586239.1_RNA|CHRM2_ENST00000401861.1_Missense_Mutation_p.R135K|CHRM2_ENST00000397608.3_Missense_Mutation_p.R135K|CHRM2_ENST00000453373.1_Missense_Mutation_p.R135K|CHRM2_ENST00000402486.3_Missense_Mutation_p.R135K	NM_001006627.1|NM_001006629.1	NP_001006628.1|NP_001006630.1	P08172	ACM2_HUMAN	cholinergic receptor, muscarinic 2	135					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|nervous system development (GO:0007399)|phospholipase C-activating G-protein coupled acetylcholine receptor signaling pathway (GO:0007207)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|regulation of heart contraction (GO:0008016)|response to virus (GO:0009615)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	G-protein coupled acetylcholine receptor activity (GO:0016907)			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68					Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Anisotropine Methylbromide(DB00517)|Aripiprazole(DB01238)|Atropine(DB00572)|Bethanechol(DB01019)|Brompheniramine(DB00835)|Carbachol(DB00411)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cocaine(DB00907)|Cryptenamine(DB00785)|Cyproheptadine(DB00434)|Darifenacin(DB00496)|Desipramine(DB01151)|Dicyclomine(DB00804)|Dimetindene(DB08801)|Diphenidol(DB01231)|Disopyramide(DB00280)|Doxacurium chloride(DB01135)|Doxepin(DB01142)|Ethopropazine(DB00392)|Fesoterodine(DB06702)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Methylscopolamine bromide(DB00462)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pancuronium(DB01337)|Paroxetine(DB00715)|Pethidine(DB00454)|Pilocarpine(DB01085)|Pipecuronium(DB01338)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Rocuronium(DB00728)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Tiotropium(DB01409)|Tolterodine(DB01036)|Triflupromazine(DB00508)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Tropicamide(DB00809)|Ziprasidone(DB00246)	CCCAGTCAAGCGGACCACAAAA	0.5																																							uc003vtf.1		NA																	0				ovary(4)|central_nervous_system(1)	5						c.(403-405)CGG>AAG		cholinergic receptor, muscarinic 2	Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium(DB01334)|Doxacurium chloride(DB01135)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)																																			SO:0001583	missense	1129				activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|nervous system development|regulation of heart contraction|response to virus	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|protein binding	g.chr7:136700015_136700016CG>AA		CCDS5843.1	7q35-q36	2014-09-17			ENSG00000181072	ENSG00000181072		"""Cholinergic receptors"", ""GPCR / Class A : Cholinergic receptors, muscarinic"""	1951	protein-coding gene	gene with protein product	"""acetylcholine receptor, muscarinic 2"""	118493					Standard	NM_000739		Approved		uc003vtl.1	P08172	OTTHUMG00000155658	Exception_encountered	7.37:g.136700015_136700016delinsAA	ENSP00000399745:p.Arg135Lys					CHRM2_uc003vtg.1_Missense_Mutation_p.R135K|CHRM2_uc003vtj.1_Missense_Mutation_p.R135K|CHRM2_uc003vtk.1_Missense_Mutation_p.R135K|CHRM2_uc003vtl.1_Missense_Mutation_p.R135K|CHRM2_uc003vtm.1_Missense_Mutation_p.R135K|CHRM2_uc003vti.1_Missense_Mutation_p.R135K|CHRM2_uc003vto.1_Missense_Mutation_p.R135K|CHRM2_uc003vtn.1_Missense_Mutation_p.R135K|uc003vtp.1_Intron	p.R135K	NM_001006630	NP_001006631	P08172	ACM2_HUMAN			4	1026_1027	+			135			Cytoplasmic (By similarity).		Q4VBK6|Q9P1X9	Missense_Mutation	DNP	ENST00000445907.2	37	c.403_404CG>AA	CCDS5843.1																																																																																				0.500	CHRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341010.1			21	37	0	0	0	0.004672	0	21	37				
CHRM2	1129	broad.mit.edu	37	7	136700405	136700405	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr7:136700405G>T	ENST00000445907.2	+	3	1321	c.793G>T	c.(793-795)Gcc>Tcc	p.A265S	hsa-mir-490_ENST00000425981.2_RNA|hsa-mir-490_ENST00000597642.1_RNA|hsa-mir-490_ENST00000592183.1_RNA|CHRM2_ENST00000320658.5_Missense_Mutation_p.A265S|hsa-mir-490_ENST00000598184.1_RNA|hsa-mir-490_ENST00000439694.1_RNA|hsa-mir-490_ENST00000593789.1_RNA|hsa-mir-490_ENST00000586239.1_RNA|CHRM2_ENST00000401861.1_Missense_Mutation_p.A265S|CHRM2_ENST00000397608.3_Missense_Mutation_p.A265S|CHRM2_ENST00000453373.1_Missense_Mutation_p.A265S|CHRM2_ENST00000402486.3_Missense_Mutation_p.A265S	NM_001006627.1|NM_001006629.1	NP_001006628.1|NP_001006630.1	P08172	ACM2_HUMAN	cholinergic receptor, muscarinic 2	265					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|nervous system development (GO:0007399)|phospholipase C-activating G-protein coupled acetylcholine receptor signaling pathway (GO:0007207)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|regulation of heart contraction (GO:0008016)|response to virus (GO:0009615)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	G-protein coupled acetylcholine receptor activity (GO:0016907)			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68					Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Anisotropine Methylbromide(DB00517)|Aripiprazole(DB01238)|Atropine(DB00572)|Bethanechol(DB01019)|Brompheniramine(DB00835)|Carbachol(DB00411)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cocaine(DB00907)|Cryptenamine(DB00785)|Cyproheptadine(DB00434)|Darifenacin(DB00496)|Desipramine(DB01151)|Dicyclomine(DB00804)|Dimetindene(DB08801)|Diphenidol(DB01231)|Disopyramide(DB00280)|Doxacurium chloride(DB01135)|Doxepin(DB01142)|Ethopropazine(DB00392)|Fesoterodine(DB06702)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Methylscopolamine bromide(DB00462)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pancuronium(DB01337)|Paroxetine(DB00715)|Pethidine(DB00454)|Pilocarpine(DB01085)|Pipecuronium(DB01338)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Rocuronium(DB00728)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Tiotropium(DB01409)|Tolterodine(DB01036)|Triflupromazine(DB00508)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Tropicamide(DB00809)|Ziprasidone(DB00246)	GAATGGCAAAGCCCCCAGGGA	0.493																																							uc003vtf.1		NA																	0				ovary(4)|central_nervous_system(1)	5						c.(793-795)GCC>TCC		cholinergic receptor, muscarinic 2	Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium(DB01334)|Doxacurium chloride(DB01135)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)						54.0	60.0	58.0					7																	136700405		2202	4300	6502	SO:0001583	missense	1129				activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|nervous system development|regulation of heart contraction|response to virus	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|protein binding	g.chr7:136700405G>T		CCDS5843.1	7q35-q36	2014-09-17			ENSG00000181072	ENSG00000181072		"""Cholinergic receptors"", ""GPCR / Class A : Cholinergic receptors, muscarinic"""	1951	protein-coding gene	gene with protein product	"""acetylcholine receptor, muscarinic 2"""	118493					Standard	NM_000739		Approved		uc003vtl.1	P08172	OTTHUMG00000155658	ENST00000445907.2:c.793G>T	7.37:g.136700405G>T	ENSP00000399745:p.Ala265Ser					CHRM2_uc003vtg.1_Missense_Mutation_p.A265S|CHRM2_uc003vtj.1_Missense_Mutation_p.A265S|CHRM2_uc003vtk.1_Missense_Mutation_p.A265S|CHRM2_uc003vtl.1_Missense_Mutation_p.A265S|CHRM2_uc003vtm.1_Missense_Mutation_p.A265S|CHRM2_uc003vti.1_Missense_Mutation_p.A265S|CHRM2_uc003vto.1_Missense_Mutation_p.A265S|CHRM2_uc003vtn.1_Missense_Mutation_p.A265S|uc003vtp.1_Intron	p.A265S	NM_001006630	NP_001006631	P08172	ACM2_HUMAN			4	1416	+			265			Cytoplasmic (By similarity).		Q4VBK6|Q9P1X9	Missense_Mutation	SNP	ENST00000445907.2	37	c.793G>T	CCDS5843.1	.	.	.	.	.	.	.	.	.	.	G	3.613	-0.079119	0.07141	.	.	ENSG00000181072	ENST00000445907;ENST00000453373;ENST00000320658;ENST00000397608;ENST00000402486;ENST00000401861	T;T;T;T;T;T	0.61040	0.14;0.14;0.14;0.14;0.14;0.14	5.4	2.58	0.30949	GPCR, rhodopsin-like superfamily (1);	0.578152	0.17903	N	0.158133	T	0.35480	0.0933	N	0.25825	0.765	0.32070	N	0.594566	B	0.13594	0.008	B	0.15052	0.012	T	0.36578	-0.9742	10	0.06099	T	0.92	-13.4142	6.8292	0.23900	0.2051:0.0:0.6705:0.1244	.	265	P08172	ACM2_HUMAN	S	265	ENSP00000399745:A265S;ENSP00000415386:A265S;ENSP00000319984:A265S;ENSP00000380733:A265S;ENSP00000384937:A265S;ENSP00000384401:A265S	ENSP00000319984:A265S	A	+	1	0	CHRM2	136350945	1.000000	0.71417	0.960000	0.40013	0.930000	0.56654	2.842000	0.48230	0.253000	0.21552	0.655000	0.94253	GCC		0.493	CHRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341010.1			17	19	1	0	6.94344e-10	0.006122	8.55425e-10	17	19				
DGKI	9162	broad.mit.edu	37	7	137293787	137293787	+	Missense_Mutation	SNP	A	A	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr7:137293787A>T	ENST00000288490.5	-	10	1092	c.1092T>A	c.(1090-1092)ttT>ttA	p.F364L	DGKI_ENST00000446122.1_Missense_Mutation_p.F364L|DGKI_ENST00000453654.2_Missense_Mutation_p.F64L|DGKI_ENST00000424189.2_Missense_Mutation_p.F364L	NM_004717.2	NP_004708.1	O75912	DGKI_HUMAN	diacylglycerol kinase, iota	364					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|positive regulation of Ras protein signal transduction (GO:0046579)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of Rap GTPase activity (GO:0032317)	cytoplasm (GO:0005737)|guanyl-nucleotide exchange factor complex (GO:0032045)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|GTPase inhibitor activity (GO:0005095)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						GTTTTATCACAAAAGGACGAC	0.433																																							uc003vtt.2		NA																	0				ovary(1)|kidney(1)|skin(1)	3						c.(1090-1092)TTT>TTA		diacylglycerol kinase, iota							154.0	142.0	146.0					7																	137293787		2203	4300	6503	SO:0001583	missense	9162				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding	g.chr7:137293787A>T	AF061936	CCDS5845.1	7q32.3-q33	2013-01-10			ENSG00000157680	ENSG00000157680		"""Ankyrin repeat domain containing"""	2855	protein-coding gene	gene with protein product		604072				9830018	Standard	NM_004717		Approved	DGK-IOTA	uc003vtt.3	O75912	OTTHUMG00000155697	ENST00000288490.5:c.1092T>A	7.37:g.137293787A>T	ENSP00000288490:p.Phe364Leu					DGKI_uc003vtu.2_Missense_Mutation_p.F64L	p.F364L	NM_004717	NP_004708	O75912	DGKI_HUMAN			10	1093	-			364					A4D1Q9|Q9NZ49	Missense_Mutation	SNP	ENST00000288490.5	37	c.1092T>A	CCDS5845.1	.	.	.	.	.	.	.	.	.	.	A	17.41	3.382225	0.61845	.	.	ENSG00000157680	ENST00000453654;ENST00000540376;ENST00000424189;ENST00000288490;ENST00000446122	T;T;T	0.34859	1.93;1.34;1.52	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	T	0.58481	0.2125	M	0.78456	2.415	0.80722	D	1	D;P	0.89917	1.0;0.598	D;B	0.78314	0.991;0.325	T	0.59974	-0.7353	10	0.42905	T	0.14	.	11.4959	0.50408	0.9272:0.0:0.0728:0.0	.	64;364	E9PFX6;O75912	.;DGKI_HUMAN	L	64;312;364;364;364	ENSP00000392161:F64L;ENSP00000288490:F364L;ENSP00000399131:F364L	ENSP00000288490:F364L	F	-	3	2	DGKI	136944327	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.166000	0.58203	2.125000	0.65367	0.460000	0.39030	TTT		0.433	DGKI-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341286.3	NM_004717		25	37	0	0	0	0.009535	0	25	37				
TRBV30	28557	broad.mit.edu	37	7	142510430	142510430	+	RNA	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr7:142510430C>A	ENST00000417977.2	-	0	287									T cell receptor beta variable 30 (gene/pseudogene)																		CTGGAGGCCCCTGCCTGCAGC	0.612																																							uc003wbp.2		NA																	0					NA						c.(175-177)AGG>ATG		SubName: Full=V_segment translation product; Flags: Fragment;							31.0	36.0	34.0					7																	142510430		1944	4136	6080			0							g.chr7:142510430C>A	L36092		7q34	2012-02-07	2008-09-12		ENSG00000237254	ENSG00000237254		"""T cell receptors / TRB locus"""	12214	other	T cell receptor gene			"""T cell receptor beta variable 30"""			8650574	Standard	NG_001333		Approved	TCRBV20S1A1N2, TCRBV30S1			OTTHUMG00000158907		7.37:g.142510430C>A							p.R59M							2	288	-									Missense_Mutation	SNP	ENST00000417977.2	37	c.176G>T																																																																																					0.612	TRBV30-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000352519.1	NG_001333		4	8	1	0	0.00909568	0.009096	0.00941286	4	8				
OR6B1	135946	broad.mit.edu	37	7	143701627	143701627	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr7:143701627G>T	ENST00000408922.2	+	1	606	c.538G>T	c.(538-540)Gac>Tac	p.D180Y		NM_001005281.1	NP_001005281.1	O95007	OR6B1_HUMAN	olfactory receptor, family 6, subfamily B, member 1	180						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(3)|large_intestine(3)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	27	Melanoma(164;0.0783)					CTTCTTCTGTGACATCTCTCC	0.478																																							uc003wdt.1		NA																	0				ovary(1)	1						c.(538-540)GAC>TAC		olfactory receptor, family 6, subfamily B,							127.0	121.0	123.0					7																	143701627		2071	4253	6324	SO:0001583	missense	135946				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:143701627G>T		CCDS43667.1	7q33-q35	2012-08-09			ENSG00000221813	ENSG00000221813		"""GPCR / Class A : Olfactory receptors"""	8354	protein-coding gene	gene with protein product							Standard	NM_001005281		Approved	OR7-3	uc003wdt.1	O95007	OTTHUMG00000157765	ENST00000408922.2:c.538G>T	7.37:g.143701627G>T	ENSP00000386151:p.Asp180Tyr						p.D180Y	NM_001005281	NP_001005281	O95007	OR6B1_HUMAN			1	538	+	Melanoma(164;0.0783)		180			Extracellular (Potential).		A4D2G2|B9EH47|Q6IFP6|Q96R38	Missense_Mutation	SNP	ENST00000408922.2	37	c.538G>T	CCDS43667.1	.	.	.	.	.	.	.	.	.	.	G	16.83	3.230893	0.58777	.	.	ENSG00000221813	ENST00000408922	T	0.00207	8.55	5.17	5.17	0.71159	GPCR, rhodopsin-like superfamily (1);	0.000000	0.38663	U	0.001615	T	0.01061	0.0035	H	0.97758	4.07	0.36270	D	0.855148	D	0.89917	1.0	D	0.97110	1.0	T	0.32851	-0.9891	10	0.87932	D	0	.	16.2042	0.82108	0.0:0.0:1.0:0.0	.	180	O95007	OR6B1_HUMAN	Y	180	ENSP00000386151:D180Y	ENSP00000386151:D180Y	D	+	1	0	OR6B1	143332560	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	6.903000	0.75703	2.683000	0.91414	0.655000	0.94253	GAC		0.478	OR6B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349566.1			14	42	1	0	6.31663e-08	0.003163	7.38526e-08	14	42				
AGAP3	116988	broad.mit.edu	37	7	150840846	150840846	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr7:150840846G>T	ENST00000463381.1	+	16	2055	c.1559G>T	c.(1558-1560)cGg>cTg	p.R520L	AGAP3_ENST00000397238.2_Missense_Mutation_p.R851L	NM_001281300.1	NP_001268229.1	Q96P47	AGAP3_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 3	815	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				cellular response to reactive oxygen species (GO:0034614)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein import into nucleus, translocation (GO:0000060)|regulation of ARF GTPase activity (GO:0032312)|small GTPase mediated signal transduction (GO:0007264)	cell periphery (GO:0071944)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ARF GTPase activator activity (GO:0008060)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|liver(2)|lung(9)|ovary(2)|prostate(3)|urinary_tract(1)	28						GTGAGGAGCCGGGACGCCCGG	0.602																																							uc003wjg.1		NA																	0				central_nervous_system(2)|ovary(1)	3						c.(2551-2553)CGG>CTG		centaurin, gamma 3 isoform a							42.0	47.0	45.0					7																	150840846		1944	4132	6076	SO:0001583	missense	116988				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm|membrane	ARF GTPase activator activity|GTP binding|GTPase activity|zinc ion binding	g.chr7:150840846G>T	AF413079	CCDS43681.1, CCDS55185.1, CCDS64802.1	7q36.1	2013-01-11	2008-09-22	2008-09-22	ENSG00000133612	ENSG00000133612		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16923	protein-coding gene	gene with protein product			"""centaurin, gamma 3"""	CENTG3			Standard	NM_001042535		Approved		uc003wjg.1	Q96P47	OTTHUMG00000158724	ENST00000463381.1:c.1559G>T	7.37:g.150840846G>T	ENSP00000418016:p.Arg520Leu					AGAP3_uc003wje.1_Missense_Mutation_p.R520L|AGAP3_uc003wjj.1_Missense_Mutation_p.R350L|AGAP3_uc003wjk.1_Missense_Mutation_p.R269L	p.R851L	NM_031946	NP_114152	Q96P47	AGAP3_HUMAN			18	2555	+			815					B3KNZ8|E9PAL8|Q59EN0|Q96RK3	Missense_Mutation	SNP	ENST00000463381.1	37	c.2552G>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.15|16.15	3.042042|3.042042	0.55003|0.55003	.|.	.|.	ENSG00000133612|ENSG00000133612	ENST00000461065|ENST00000463381;ENST00000397232;ENST00000397238;ENST00000335355	.|T;T	.|0.66815	.|-0.23;-0.23	5.81|5.81	3.93|3.93	0.45458|0.45458	.|Ankyrin repeat-containing domain (4);	.|0.231906	.|0.36628	.|N	.|0.002488	T|T	0.57359|0.57359	0.2048|0.2048	N|N	0.04880|0.04880	-0.145|-0.145	0.80722|0.80722	D|D	1|1	.|D;B;B;P	.|0.71674	.|0.998;0.073;0.035;0.546	.|D;B;B;B	.|0.79784	.|0.993;0.148;0.045;0.222	T|T	0.53830|0.53830	-0.8383|-0.8383	5|10	.|0.07644	.|T	.|0.81	.|.	9.3163|9.3163	0.37937|0.37937	0.0828:0.1442:0.773:0.0|0.0828:0.1442:0.773:0.0	.|.	.|815;350;851;520	.|Q96P47;E7ETI2;Q96P47-4;B3KNZ8	.|AGAP3_HUMAN;.;.;.	W|L	344|520;350;851;815	.|ENSP00000418016:R520L;ENSP00000380413:R851L	.|ENSP00000334157:R815L	G|R	+|+	1|2	0|0	AGAP3|AGAP3	150471779|150471779	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.999000|0.999000	0.98932|0.98932	6.673000|6.673000	0.74482|0.74482	0.706000|0.706000	0.31912|0.31912	0.655000|0.655000	0.94253|0.94253	GGG|CGG		0.602	AGAP3-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000351909.2	NM_031946		39	18	1	0	1.30916e-28	0.00361	1.99841e-28	39	18				
NCAPG2	54892	broad.mit.edu	37	7	158455020	158455020	+	Missense_Mutation	SNP	T	T	C			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr7:158455020T>C	ENST00000409423.1	-	17	2027	c.1855A>G	c.(1855-1857)Atg>Gtg	p.M619V	NCAPG2_ENST00000275830.10_Missense_Mutation_p.M411V|NCAPG2_ENST00000409339.3_Missense_Mutation_p.M619V|NCAPG2_ENST00000356309.3_Missense_Mutation_p.M619V|NCAPG2_ENST00000449727.2_Missense_Mutation_p.M619V|NCAPG2_ENST00000541468.1_Missense_Mutation_p.M120V	NM_001281932.1	NP_001268861.1	Q86XI2	CNDG2_HUMAN	non-SMC condensin II complex, subunit G2	619					chromosome condensation (GO:0030261)|inner cell mass cell proliferation (GO:0001833)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	methylated histone binding (GO:0035064)			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	39	Ovarian(565;0.152)	all_cancers(7;3.44e-11)|all_epithelial(9;3.05e-05)|all_hematologic(28;0.014)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.187)|STAD - Stomach adenocarcinoma(7;0.18)		AAACCTGCCATGCATGCAACA	0.328																																							uc003wnv.1		NA																	0				ovary(1)|breast(1)|kidney(1)	3						c.(1855-1857)ATG>GTG		leucine zipper protein 5							87.0	82.0	83.0					7																	158455020		1835	4088	5923	SO:0001583	missense	54892				cell division|chromosome condensation|mitosis	nucleus	methylated histone residue binding	g.chr7:158455020T>C	BC043404	CCDS43686.1, CCDS64816.1	7q36.3	2006-09-04	2006-09-04	2006-09-04	ENSG00000146918	ENSG00000146918			21904	protein-coding gene	gene with protein product		608532	"""leucine zipper protein 5"""	LUZP5		14532007	Standard	NM_001281933		Approved	FLJ20311, MTB, CAP-G2, hCAP-G2	uc003wnv.1	Q86XI2	OTTHUMG00000151438	ENST00000409423.1:c.1855A>G	7.37:g.158455020T>C	ENSP00000386569:p.Met619Val					NCAPG2_uc010lqu.1_Missense_Mutation_p.M411V|NCAPG2_uc003wnw.1_RNA|NCAPG2_uc003wnx.1_Missense_Mutation_p.M619V|NCAPG2_uc011kwe.1_Missense_Mutation_p.M619V|NCAPG2_uc011kwc.1_Missense_Mutation_p.M120V|NCAPG2_uc011kwd.1_Intron	p.M619V	NM_017760	NP_060230	Q86XI2	CNDG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.187)|STAD - Stomach adenocarcinoma(7;0.18)	16	2000	-	Ovarian(565;0.152)	all_cancers(7;3.44e-11)|all_epithelial(9;3.05e-05)|all_hematologic(28;0.014)	619					A4D228|Q7Z3J9|Q8WUG8|Q9BRX6|Q9H8S2|Q9H9K6	Missense_Mutation	SNP	ENST00000409423.1	37	c.1855A>G	CCDS43686.1	.	.	.	.	.	.	.	.	.	.	T	12.64	1.997239	0.35226	.	.	ENSG00000146918	ENST00000541468;ENST00000356309;ENST00000409423;ENST00000275830;ENST00000409339;ENST00000449727	T;T;T;T;T;T	0.32023	1.53;1.48;1.48;1.49;1.47;1.47	6.17	6.17	0.99709	.	0.037133	0.85682	D	0.000000	T	0.47488	0.1448	L	0.47190	1.495	0.42048	D	0.991102	P;D;P	0.58268	0.644;0.982;0.512	B;D;B	0.67548	0.227;0.952;0.113	T	0.22312	-1.0220	10	0.22706	T	0.39	-48.6085	16.8222	0.85835	0.0:0.0:0.0:1.0	.	619;411;619	Q86XI2-2;E7EUH9;Q86XI2	.;.;CNDG2_HUMAN	V	120;619;619;411;619;619	ENSP00000442337:M120V;ENSP00000348657:M619V;ENSP00000386569:M619V;ENSP00000275830:M411V;ENSP00000387007:M619V;ENSP00000388326:M619V	ENSP00000275830:M411V	M	-	1	0	NCAPG2	158147781	1.000000	0.71417	0.999000	0.59377	0.118000	0.20060	4.122000	0.57910	2.371000	0.80710	0.533000	0.62120	ATG		0.328	NCAPG2-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327111.1	NM_017760		7	46	0	0	0	0.00308	0	7	46				
DLGAP2	9228	broad.mit.edu	37	8	1497408	1497408	+	Silent	SNP	G	G	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr8:1497408G>A	ENST00000421627.2	+	2	683	c.549G>A	c.(547-549)gcG>gcA	p.A183A		NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN	discs, large (Drosophila) homolog-associated protein 2	262					neuron-neuron synaptic transmission (GO:0007270)	cell junction (GO:0030054)|neurofilament (GO:0005883)|postsynaptic membrane (GO:0045211)		p.A205A(1)		breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		ACGGCCGGGCGGACGACCACC	0.667																																							uc003wpl.2		NA																	1	Substitution - coding silent(1)		large_intestine(1)		0						c.(547-549)GCG>GCA		discs large-associated protein 2							16.0	23.0	21.0					8																	1497408		2176	4285	6461	SO:0001819	synonymous_variant	9228				neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding	g.chr8:1497408G>A	AB000275	CCDS47760.1, CCDS75689.1	8p23	2007-12-06	2001-11-28		ENSG00000198010	ENSG00000198010			2906	protein-coding gene	gene with protein product		605438	"""discs, large (Drosophila) homolog-associated protein 2"""			9286858, 10854099	Standard	NM_004745		Approved	DAP-2	uc003wpl.4	Q9P1A6	OTTHUMG00000163599	ENST00000421627.2:c.549G>A	8.37:g.1497408G>A						DLGAP2_uc003wpm.2_Silent_p.A183A	p.A183A	NM_004745	NP_004736	Q9P1A6	DLGP2_HUMAN		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)	2	646	+		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)	262					A1QCF8|A1QCF9|A5D8Y2|O14488|O14664|Q9P1A7	Silent	SNP	ENST00000421627.2	37	c.549G>A	CCDS47760.1	.	.	.	.	.	.	.	.	.	.	G	0.203	-1.043428	0.01997	.	.	ENSG00000198010	ENST00000520901	.	.	.	5.57	-0.867	0.10655	.	.	.	.	.	T	0.42017	0.1184	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.25257	-1.0137	4	.	.	.	-2.1129	2.2903	0.04136	0.2009:0.235:0.443:0.1211	.	.	.	.	Q	200	.	.	R	+	2	0	DLGAP2	1484815	0.805000	0.28982	0.003000	0.11579	0.010000	0.07245	0.157000	0.16402	-0.204000	0.10235	-0.819000	0.03115	CGG		0.667	DLGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374478.1	NM_004745		2	3	0	0	0	0.004672	0	2	3				
RP1L1	94137	broad.mit.edu	37	8	10466103	10466103	+	Missense_Mutation	SNP	T	T	C			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr8:10466103T>C	ENST00000382483.3	-	4	5728	c.5505A>G	c.(5503-5505)atA>atG	p.I1835M		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	1915					cell projection organization (GO:0030030)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|visual perception (GO:0007601)	axoneme (GO:0005930)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)				breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		CCGGGGCCTCTATGCCTTCGG	0.637																																							uc003wtc.2		NA																	0				ovary(4)|breast(3)|central_nervous_system(1)	8						c.(5503-5505)ATA>ATG		retinitis pigmentosa 1-like 1							149.0	167.0	161.0					8																	10466103		1997	4153	6150	SO:0001583	missense	94137				intracellular signal transduction			g.chr8:10466103T>C	AY168346	CCDS43708.1	8p23.1	2011-12-06			ENSG00000183638	ENSG00000183638			15946	protein-coding gene	gene with protein product		608581				12634863	Standard	NM_178857		Approved	DCDC4B	uc003wtc.3	Q8IWN7	OTTHUMG00000163806	ENST00000382483.3:c.5505A>G	8.37:g.10466103T>C	ENSP00000371923:p.Ile1835Met						p.I1835M	NM_178857	NP_849188	Q8IWN7	RP1L1_HUMAN		COAD - Colon adenocarcinoma(149;0.0811)	4	5734	-			1835					Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Missense_Mutation	SNP	ENST00000382483.3	37	c.5505A>G	CCDS43708.1	.	.	.	.	.	.	.	.	.	.	T	10.91	1.484879	0.26598	.	.	ENSG00000183638	ENST00000382483	T	0.04917	3.53	3.68	-7.35	0.01422	.	.	.	.	.	T	0.02807	0.0084	N	0.14661	0.345	0.09310	N	1	D	0.56521	0.976	B	0.43728	0.429	T	0.26121	-1.0112	9	0.48119	T	0.1	.	0.4244	0.00461	0.2553:0.2456:0.2871:0.212	.	1835	A6NKC6	.	M	1835	ENSP00000371923:I1835M	ENSP00000371923:I1835M	I	-	3	3	RP1L1	10503513	.	.	0.000000	0.03702	0.009000	0.06853	.	.	-1.013000	0.03383	0.374000	0.22700	ATA		0.637	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375673.1			56	129	0	0	0	0.00361	0	56	129				
PINX1	54984	broad.mit.edu	37	8	10623297	10623297	+	Missense_Mutation	SNP	C	C	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr8:10623297C>T	ENST00000314787.3	-	7	720	c.601G>A	c.(601-603)Gac>Aac	p.D201N	SOX7_ENST00000553390.1_Intron|PINX1_ENST00000519088.1_Silent_p.*175*|PINX1_ENST00000426190.2_Silent_p.*173*|CTD-2135J3.3_ENST00000519568.1_RNA|CTD-2135J3.3_ENST00000506149.2_RNA|SOX7_ENST00000554914.1_Intron	NM_017884.4	NP_060354.4	Q96BK5	PINX1_HUMAN	PIN2/TERF1 interacting, telomerase inhibitor 1	201					mitotic metaphase plate congression (GO:0007080)|negative regulation of cell proliferation (GO:0008285)|negative regulation of telomerase activity (GO:0051974)|regulation of telomerase activity (GO:0051972)|telomere maintenance via telomerase (GO:0007004)	chromosome, telomeric region (GO:0000781)|kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)|nucleolus (GO:0005730)|spindle (GO:0005819)	telomerase inhibitor activity (GO:0010521)|telomeric RNA binding (GO:0070034)			kidney(2)|large_intestine(4)|lung(8)|ovary(1)|skin(2)	17				Kidney(29;0.0595)|COAD - Colon adenocarcinoma(149;0.105)|KIRC - Kidney renal clear cell carcinoma(542;0.201)		TCAGAAATGTCAGACCCTGGA	0.512																																							uc003wth.2		NA																	0				lung(1)|kidney(1)|skin(1)	3						c.(601-603)GAC>AAC		PIN2-interacting protein 1							176.0	179.0	178.0					8																	10623297		1906	4126	6032	SO:0001583	missense	54984				mitotic metaphase plate congression|negative regulation of cell proliferation	chromosome, telomeric region|condensed chromosome kinetochore|mitochondrion|nuclear chromosome|nucleolus|spindle	protein binding|telomerase inhibitor activity|telomeric RNA binding	g.chr8:10623297C>T	AF418553	CCDS47801.1, CCDS64825.1	8p23	2013-01-28				ENSG00000254093		"""G patch domain containing"""	30046	protein-coding gene	gene with protein product	"""PIN2 interacting protein 1"", ""liver-related putative tumor suppressor"""	606505				11003615, 11701125	Standard	NM_001284356		Approved	PinX1, LPTL, LPTS, FLJ20565, MGC8850		Q96BK5		ENST00000314787.3:c.601G>A	8.37:g.10623297C>T	ENSP00000318966:p.Asp201Asn					SOX7_uc011kwz.1_Intron|PINX1_uc003wti.2_Silent_p.*175*	p.D201N	NM_017884	NP_060354	Q96BK5	PINX1_HUMAN		Kidney(29;0.0595)|COAD - Colon adenocarcinoma(149;0.105)|KIRC - Kidney renal clear cell carcinoma(542;0.201)	7	634	-			201					B2R9B1|Q548A5|Q6QWG9|Q7Z7J8|Q96QD7|Q9HBU7|Q9NWW2	Missense_Mutation	SNP	ENST00000314787.3	37	c.601G>A	CCDS47801.1	.	.	.	.	.	.	.	.	.	.	C	15.91	2.973653	0.53720	.	.	ENSG00000254093	ENST00000314787	T	0.17528	2.27	5.52	4.65	0.58169	.	1.025170	0.07684	N	0.937614	T	0.20210	0.0486	L	0.54323	1.7	0.22213	N	0.999288	B	0.17852	0.024	B	0.12837	0.008	T	0.20538	-1.0272	10	0.40728	T	0.16	.	10.081	0.42391	0.0:0.9087:0.0:0.0913	.	201	Q96BK5	PINX1_HUMAN	N	201	ENSP00000318966:D201N	ENSP00000318966:D201N	D	-	1	0	PINX1	10660707	0.022000	0.18835	0.005000	0.12908	0.004000	0.04260	2.126000	0.42026	1.336000	0.45506	0.655000	0.94253	GAC		0.512	PINX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375683.1	NM_017884		42	119	0	0	0	0.00361	0	42	119				
DLC1	10395	broad.mit.edu	37	8	13356917	13356917	+	Missense_Mutation	SNP	C	C	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr8:13356917C>T	ENST00000276297.4	-	2	1073	c.664G>A	c.(664-666)Gag>Aag	p.E222K	DLC1_ENST00000316609.5_Missense_Mutation_p.E222K|DLC1_ENST00000511869.1_Missense_Mutation_p.E222K	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	DLC1 Rho GTPase activating protein	222					actin cytoskeleton organization (GO:0030036)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|focal adhesion assembly (GO:0048041)|forebrain development (GO:0030900)|heart morphogenesis (GO:0003007)|hindbrain morphogenesis (GO:0021575)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of stress fiber assembly (GO:0051497)|neural tube closure (GO:0001843)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of Rho GTPase activity (GO:0032321)|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)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	lipid binding (GO:0008289)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						AATTGTTTCTCAGGTGCAATA	0.383																																							uc003wwm.2		NA																	0				ovary(3)|pancreas(2)|lung(1)|kidney(1)	7						c.(664-666)GAG>AAG		deleted in liver cancer 1 isoform 1							152.0	148.0	150.0					8																	13356917		2203	4300	6503	SO:0001583	missense	10395				actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding	g.chr8:13356917C>T	AF035119	CCDS5989.1, CCDS5990.1, CCDS5991.1, CCDS5991.2, CCDS55201.1	8p22	2014-06-20	2014-06-20		ENSG00000164741	ENSG00000164741		"""Rho GTPase activating proteins"", ""StAR-related lipid transfer (START) domain containing"""	2897	protein-coding gene	gene with protein product	"""StAR-related lipid transfer (START) domain containing 12"""	604258	"""deleted in liver cancer 1"""			9605766, 11214970	Standard	NM_182643		Approved	HP, ARHGAP7, STARD12, DLC-1, p122-RhoGAP	uc003wwm.2	Q96QB1	OTTHUMG00000090825	ENST00000276297.4:c.664G>A	8.37:g.13356917C>T	ENSP00000276297:p.Glu222Lys					DLC1_uc003wwn.2_Missense_Mutation_p.E222K|DLC1_uc011kxy.1_Missense_Mutation_p.E222K	p.E222K	NM_182643	NP_872584	Q96QB1	RHG07_HUMAN			2	1108	-			222					B4DR10|B8PTI0|E9PDZ8|E9PF76|E9PGY9|O14868|O43199|Q7Z5R8|Q86UC6|Q9C0E0|Q9H7A2	Missense_Mutation	SNP	ENST00000276297.4	37	c.664G>A	CCDS5989.1	.	.	.	.	.	.	.	.	.	.	C	16.19	3.053565	0.55218	.	.	ENSG00000164741	ENST00000276297;ENST00000316609;ENST00000511869	T;T;T	0.15718	3.37;2.4;2.42	4.84	4.84	0.62591	.	0.000000	0.41500	D	0.000866	T	0.37865	0.1019	L	0.54323	1.7	0.37719	D	0.924869	D;D;P	0.76494	0.999;0.999;0.849	D;D;B	0.71656	0.974;0.96;0.321	T	0.16837	-1.0389	10	0.45353	T	0.12	.	18.5061	0.90898	0.0:1.0:0.0:0.0	.	222;222;222	E9PF76;Q96QB1-3;Q96QB1	.;.;RHG07_HUMAN	K	222	ENSP00000276297:E222K;ENSP00000321034:E222K;ENSP00000425878:E222K	ENSP00000276297:E222K	E	-	1	0	DLC1	13401288	1.000000	0.71417	0.990000	0.47175	0.112000	0.19704	5.187000	0.65087	2.658000	0.90341	0.655000	0.94253	GAG		0.383	DLC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207632.2	NM_182643, NM_006094		26	101	0	0	0	0.009535	0	26	101				
CSGALNACT1	55790	broad.mit.edu	37	8	19362965	19362965	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr8:19362965C>A	ENST00000454498.2	-	4	1394	c.381G>T	c.(379-381)caG>caT	p.Q127H	CSGALNACT1_ENST00000522854.1_Missense_Mutation_p.Q127H|CSGALNACT1_ENST00000332246.6_Missense_Mutation_p.Q127H|CSGALNACT1_ENST00000544602.1_Missense_Mutation_p.Q127H|CSGALNACT1_ENST00000311540.4_Missense_Mutation_p.Q127H	NM_001130518.1	NP_001123990.1	Q8TDX6	CGAT1_HUMAN	chondroitin sulfate N-acetylgalactosaminyltransferase 1	127					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)		CCTTGTCCACCTGCGAGTGCA	0.592																																							uc011kyn.1		NA																	0				central_nervous_system(2)|ovary(1)	3						c.(379-381)CAG>CAT		chondroitin sulfate							60.0	59.0	60.0					8																	19362965		2203	4300	6503	SO:0001583	missense	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.chr8:19362965C>A	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.381G>T	8.37:g.19362965C>A	ENSP00000411816:p.Gln127His					CSGALNACT1_uc011kyo.1_Missense_Mutation_p.Q127H|CSGALNACT1_uc003wzg.2_RNA|CSGALNACT1_uc011kyp.1_Missense_Mutation_p.Q126H|CSGALNACT1_uc003wzh.2_RNA	p.Q127H	NM_001130518	NP_001123990	Q8TDX6	CGAT1_HUMAN		Colorectal(111;0.182)	4	1445	-			127			Lumenal (Potential).		B2RBE4|Q6P9G6|Q8IUF9|Q9NSQ7|Q9NUM9	Missense_Mutation	SNP	ENST00000454498.2	37	c.381G>T	CCDS6010.1	.	.	.	.	.	.	.	.	.	.	C	15.81	2.942506	0.53079	.	.	ENSG00000147408	ENST00000454498;ENST00000332246;ENST00000311540;ENST00000522854;ENST00000544602	T;T;T;T;T	0.45668	0.89;0.89;0.89;0.89;0.89	5.39	2.6	0.31112	.	0.000000	0.85682	D	0.000000	T	0.65913	0.2737	M	0.90082	3.085	0.58432	D	0.999997	D	0.89917	1.0	D	0.97110	1.0	T	0.67833	-0.5568	10	0.62326	D	0.03	-37.1159	8.3802	0.32466	0.0:0.6877:0.0:0.3123	.	127	Q8TDX6	CGAT1_HUMAN	H	127	ENSP00000411816:Q127H;ENSP00000330805:Q127H;ENSP00000310891:Q127H;ENSP00000429809:Q127H;ENSP00000442155:Q127H	ENSP00000310891:Q127H	Q	-	3	2	CSGALNACT1	19407245	0.998000	0.40836	0.999000	0.59377	0.513000	0.34164	0.548000	0.23314	0.774000	0.33427	0.563000	0.77884	CAG		0.592	CSGALNACT1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375204.1	NM_018371		24	52	1	0	8.16721e-17	0.002096	1.12732e-16	24	52				
FZD3	7976	broad.mit.edu	37	8	28378250	28378250	+	Silent	SNP	C	C	G			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr8:28378250C>G	ENST00000240093.3	+	4	763	c.285C>G	c.(283-285)gtC>gtG	p.V95V	FZD3_ENST00000537916.1_Silent_p.V95V	NM_017412.3	NP_059108.1	Q9NPG1	FZD3_HUMAN	frizzled class receptor 3	95	FZ. {ECO:0000255|PROSITE- ProRule:PRU00090}.				canonical Wnt signaling pathway (GO:0060070)|cell proliferation in midbrain (GO:0033278)|commissural neuron axon guidance (GO:0071679)|establishment of planar polarity (GO:0001736)|facial nucleus development (GO:0021754)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|gonad development (GO:0008406)|hair follicle development (GO:0001942)|inner ear morphogenesis (GO:0042472)|neural tube closure (GO:0001843)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|post-anal tail morphogenesis (GO:0036342)|vasculature development (GO:0001944)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|neuron projection membrane (GO:0032589)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(15)|ovary(1)|prostate(1)|skin(1)	41		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.109)|Kidney(114;0.13)|Colorectal(74;0.23)		ATGGACGTGTCACACTTCCCT	0.488																																							uc003xgx.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(283-285)GTC>GTG		frizzled 3 precursor							241.0	230.0	234.0					8																	28378250		2203	4300	6503	SO:0001819	synonymous_variant	7976				canonical Wnt receptor signaling pathway|cell proliferation in midbrain|commissural neuron axon guidance|establishment of planar polarity|facial nucleus development|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|inner ear morphogenesis|neural tube closure|vasculature development	apical part of cell|axon|cytoplasm|dendrite|integral to membrane|neuron projection membrane|neuronal cell body|presynaptic active zone	G-protein coupled receptor activity|PDZ domain binding|Wnt-protein binding	g.chr8:28378250C>G	AJ272427	CCDS6069.1	8p21	2014-06-27	2014-01-29		ENSG00000104290	ENSG00000104290		"""GPCR / Class F : Frizzled receptors"""	4041	protein-coding gene	gene with protein product		606143	"""frizzled (Drosophila) homolog 3"", ""frizzled homolog 3 (Drosophila)"", ""frizzled 3, seven transmembrane spanning receptor"", ""frizzled family receptor 3"""			10777673, 10873558	Standard	NM_145866		Approved		uc010lvb.3	Q9NPG1	OTTHUMG00000102145	ENST00000240093.3:c.285C>G	8.37:g.28378250C>G						FZD3_uc010lvb.2_Silent_p.V95V	p.V95V	NM_017412	NP_059108	Q9NPG1	FZD3_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.109)|Kidney(114;0.13)|Colorectal(74;0.23)	4	763	+		Ovarian(32;2.06e-05)	95			FZ.|Extracellular (Potential).		A8K615	Silent	SNP	ENST00000240093.3	37	c.285C>G	CCDS6069.1																																																																																				0.488	FZD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219986.2	NM_145866		48	133	0	0	0	0.00361	0	48	133				
TEX15	56154	broad.mit.edu	37	8	30703622	30703622	+	Missense_Mutation	SNP	T	T	C			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr8:30703622T>C	ENST00000256246.2	-	1	2986	c.2912A>G	c.(2911-2913)gAa>gGa	p.E971G	TEX15_ENST00000523186.1_5'Flank	NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	971					fertilization (GO:0009566)|homeostasis of number of cells within a tissue (GO:0048873)|male genitalia development (GO:0030539)|male meiosis (GO:0007140)|protein localization to chromosome (GO:0034502)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of protein localization (GO:0032880)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)					NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		AATGTGCTTTTCTGACTGTGA	0.353																																							uc003xil.2		NA																	0				ovary(3)|upper_aerodigestive_tract(2)|skin(2)	7						c.(2911-2913)GAA>GGA		testis expressed 15							117.0	118.0	118.0					8																	30703622		2203	4298	6501	SO:0001583	missense	56154							g.chr8:30703622T>C	AF285605	CCDS6080.1	8p22	2009-03-25	2007-03-13			ENSG00000133863			11738	protein-coding gene	gene with protein product	"""cancer/testis antigen 42"""	605795	"""testis expressed sequence 15"""			11279525	Standard	NM_031271		Approved	CT42	uc003xil.3	Q9BXT5		ENST00000256246.2:c.2912A>G	8.37:g.30703622T>C	ENSP00000256246:p.Glu971Gly						p.E971G	NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)	1	2912	-			971						Missense_Mutation	SNP	ENST00000256246.2	37	c.2912A>G	CCDS6080.1	.	.	.	.	.	.	.	.	.	.	T	20.8	4.052263	0.75960	.	.	ENSG00000133863	ENST00000256246	T	0.21543	2.0	5.62	5.62	0.85841	.	0.000000	0.56097	D	0.000033	T	0.41419	0.1158	L	0.53249	1.67	0.41386	D	0.987585	D	0.89917	1.0	D	0.81914	0.995	T	0.30119	-0.9989	10	0.87932	D	0	.	13.3395	0.60537	0.0:0.0:0.0:1.0	.	971	Q9BXT5	TEX15_HUMAN	G	971	ENSP00000256246:E971G	ENSP00000256246:E971G	E	-	2	0	TEX15	30823164	1.000000	0.71417	0.999000	0.59377	0.975000	0.68041	3.044000	0.49830	2.138000	0.66242	0.383000	0.25322	GAA		0.353	TEX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376193.1			23	40	0	0	0	0.002096	0	23	40				
TEX15	56154	broad.mit.edu	37	8	30705432	30705432	+	Missense_Mutation	SNP	C	C	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr8:30705432C>T	ENST00000256246.2	-	1	1176	c.1102G>A	c.(1102-1104)Ggg>Agg	p.G368R	TEX15_ENST00000523186.1_5'Flank	NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	368					fertilization (GO:0009566)|homeostasis of number of cells within a tissue (GO:0048873)|male genitalia development (GO:0030539)|male meiosis (GO:0007140)|protein localization to chromosome (GO:0034502)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of protein localization (GO:0032880)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)					NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		TTTATTTTCCCCAATTTCAGT	0.383																																							uc003xil.2		NA																	0				ovary(3)|upper_aerodigestive_tract(2)|skin(2)	7						c.(1102-1104)GGG>AGG		testis expressed 15							76.0	74.0	75.0					8																	30705432		2203	4300	6503	SO:0001583	missense	56154							g.chr8:30705432C>T	AF285605	CCDS6080.1	8p22	2009-03-25	2007-03-13			ENSG00000133863			11738	protein-coding gene	gene with protein product	"""cancer/testis antigen 42"""	605795	"""testis expressed sequence 15"""			11279525	Standard	NM_031271		Approved	CT42	uc003xil.3	Q9BXT5		ENST00000256246.2:c.1102G>A	8.37:g.30705432C>T	ENSP00000256246:p.Gly368Arg						p.G368R	NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)	1	1102	-			368						Missense_Mutation	SNP	ENST00000256246.2	37	c.1102G>A	CCDS6080.1	.	.	.	.	.	.	.	.	.	.	C	5.768	0.326136	0.10900	.	.	ENSG00000133863	ENST00000256246	T	0.09723	2.95	5.51	3.73	0.42828	.	0.673251	0.14063	N	0.343910	T	0.05823	0.0152	N	0.08118	0	0.09310	N	1	B	0.28636	0.218	B	0.25140	0.058	T	0.33085	-0.9882	10	0.87932	D	0	.	7.9655	0.30095	0.0:0.747:0.0:0.253	.	368	Q9BXT5	TEX15_HUMAN	R	368	ENSP00000256246:G368R	ENSP00000256246:G368R	G	-	1	0	TEX15	30824974	0.046000	0.20272	0.010000	0.14722	0.207000	0.24258	1.466000	0.35310	0.815000	0.34398	-0.142000	0.14014	GGG		0.383	TEX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376193.1			5	17	0	0	0	0.001168	0	5	17				
IKBKB	3551	broad.mit.edu	37	8	42179970	42179970	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr8:42179970G>T	ENST00000520810.1	+	19	2130	c.1944G>T	c.(1942-1944)gaG>gaT	p.E648D	IKBKB_ENST00000416505.2_Missense_Mutation_p.E589D|IKBKB_ENST00000520835.1_Missense_Mutation_p.E646D|IKBKB_ENST00000522147.1_Intron|IKBKB_ENST00000379708.3_Missense_Mutation_p.E425D	NM_001556.2	NP_001547.1	O14920	IKKB_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta	648					B cell homeostasis (GO:0001782)|cellular response to tumor necrosis factor (GO:0071356)|Fc-epsilon receptor signaling pathway (GO:0038095)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|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)|negative regulation of apoptotic process (GO:0043066)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of cation channel activity (GO:2001259)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sodium ion transport (GO:0010765)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein phosphorylation (GO:0006468)|response to virus (GO:0009615)|serine phosphorylation of STAT protein (GO:0042501)|T cell receptor signaling pathway (GO:0050852)|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)	CD40 receptor complex (GO:0035631)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|IkappaB kinase complex (GO:0008385)|nucleus (GO:0005634)	ATP binding (GO:0005524)|IkappaB kinase activity (GO:0008384)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|scaffold protein binding (GO:0097110)			breast(4)|lung(1)|ovary(2)|skin(1)	8	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;6.21e-12)|Lung NSC(13;1.04e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;1.37e-10)|Colorectal(10;0.00102)|OV - Ovarian serous cystadenocarcinoma(14;0.00168)|Lung(22;0.00467)|LUSC - Lung squamous cell carcinoma(45;0.024)|COAD - Colon adenocarcinoma(11;0.0264)		Acetylcysteine(DB06151)|Acetylsalicylic acid(DB00945)|Arsenic trioxide(DB01169)|Auranofin(DB00995)|Mesalazine(DB00244)|Sulfasalazine(DB00795)	GGCTGCAGGAGAAGCGGCAGA	0.562																																							uc003xow.1		NA																	0				breast(3)|ovary(2)|lung(1)|skin(1)	7						c.(1942-1944)GAG>GAT		inhibitor of nuclear factor kappa B kinase beta	Arsenic trioxide(DB01169)|Auranofin(DB00995)						145.0	150.0	148.0					8																	42179970		2203	4300	6503	SO:0001583	missense	3551				anti-apoptosis|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|T cell receptor signaling pathway|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	CD40 receptor complex|cytosol|internal side of plasma membrane|membrane raft	ATP binding|identical protein binding|IkappaB kinase activity	g.chr8:42179970G>T	AF029684	CCDS6128.1, CCDS55228.1, CCDS56535.1	8p11.2	2008-08-18			ENSG00000104365	ENSG00000104365			5960	protein-coding gene	gene with protein product		603258				9878263, 9763654	Standard	NM_001556		Approved	IKK2, NFKBIKB, IKK-beta, IKKB	uc003xow.2	O14920	OTTHUMG00000164092	ENST00000520810.1:c.1944G>T	8.37:g.42179970G>T	ENSP00000430684:p.Glu648Asp					IKBKB_uc011lco.1_RNA|IKBKB_uc010lxj.1_Missense_Mutation_p.E425D|IKBKB_uc003xox.1_Missense_Mutation_p.E369D|IKBKB_uc011lcp.1_RNA|IKBKB_uc011lcq.1_Missense_Mutation_p.E646D|IKBKB_uc010lxi.1_RNA|IKBKB_uc011lcr.1_Missense_Mutation_p.E589D	p.E648D	NM_001556	NP_001547	O14920	IKKB_HUMAN	BRCA - Breast invasive adenocarcinoma(8;1.37e-10)|Colorectal(10;0.00102)|OV - Ovarian serous cystadenocarcinoma(14;0.00168)|Lung(22;0.00467)|LUSC - Lung squamous cell carcinoma(45;0.024)|COAD - Colon adenocarcinoma(11;0.0264)		19	2121	+	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;6.21e-12)|Lung NSC(13;1.04e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	648					B4DZ30|B4E0U4|O75327	Missense_Mutation	SNP	ENST00000520810.1	37	c.1944G>T	CCDS6128.1	.	.	.	.	.	.	.	.	.	.	G	10.20	1.285322	0.23478	.	.	ENSG00000104365	ENST00000520810;ENST00000416505;ENST00000520835;ENST00000379708	T;T;T;T	0.75821	-0.89;-0.97;-0.79;2.84	5.37	0.406	0.16366	.	0.051859	0.85682	D	0.000000	T	0.75481	0.3855	L	0.59436	1.845	0.43863	D	0.996464	D;P;D;P	0.69078	0.997;0.94;0.997;0.94	D;P;D;B	0.72625	0.978;0.583;0.978;0.379	T	0.70153	-0.4950	10	0.15952	T	0.53	.	3.1748	0.06565	0.2034:0.1195:0.5536:0.1236	.	589;646;425;648	B4E0U4;O14920-2;B3KRB7;O14920	.;.;.;IKKB_HUMAN	D	648;589;646;425	ENSP00000430684:E648D;ENSP00000404920:E589D;ENSP00000430868:E646D;ENSP00000369030:E425D	ENSP00000369030:E425D	E	+	3	2	IKBKB	42299127	1.000000	0.71417	0.992000	0.48379	0.317000	0.28152	2.038000	0.41184	-0.218000	0.10018	-0.314000	0.08810	GAG		0.562	IKBKB-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377214.1			24	94	1	0	7.26314e-15	0.007291	9.71951e-15	24	94				
SNTG1	54212	broad.mit.edu	37	8	51705360	51705360	+	Missense_Mutation	SNP	A	A	G			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr8:51705360A>G	ENST00000522124.1	+	19	2186	c.1525A>G	c.(1525-1527)Acc>Gcc	p.T509A	SNTG1_ENST00000517473.1_Missense_Mutation_p.T472A|SNTG1_ENST00000276467.5_Missense_Mutation_p.T472A|SNTG1_ENST00000518864.1_Missense_Mutation_p.T509A	NM_018967.2	NP_061840.1	Q9NSN8	SNTG1_HUMAN	syntrophin, gamma 1	509					cell communication (GO:0007154)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)|syntrophin complex (GO:0016013)	protein C-terminus binding (GO:0008022)			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	66		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)				CAGCTCTGCTACCACGAGCAA	0.433																																							uc010lxy.1		NA																	0				ovary(5)	5						c.(1525-1527)ACC>GCC		syntrophin, gamma 1							154.0	141.0	145.0					8																	51705360		2203	4300	6503	SO:0001583	missense	54212				cell communication	cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex	actin binding|protein C-terminus binding	g.chr8:51705360A>G	AJ003030	CCDS6147.1, CCDS75737.1	8q11-q12	2008-07-03				ENSG00000147481			13740	protein-coding gene	gene with protein product		608714				10747910	Standard	NM_018967		Approved	SYN4, G1SYN	uc003xqs.1	Q9NSN8		ENST00000522124.1:c.1525A>G	8.37:g.51705360A>G	ENSP00000429842:p.Thr509Ala					SNTG1_uc003xqs.1_Missense_Mutation_p.T509A|SNTG1_uc010lxz.1_Missense_Mutation_p.T472A|SNTG1_uc011ldl.1_RNA	p.T509A	NM_018967	NP_061840	Q9NSN8	SNTG1_HUMAN			20	1896	+		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)	509					Q2M3Q0|Q9NY98	Missense_Mutation	SNP	ENST00000522124.1	37	c.1525A>G	CCDS6147.1	.	.	.	.	.	.	.	.	.	.	A	5.551	0.286504	0.10513	.	.	ENSG00000147481	ENST00000518864;ENST00000522124;ENST00000517473;ENST00000276467	T;T;T;T	0.26810	1.71;1.71;2.43;2.43	5.45	-3.61	0.04556	.	1.693830	0.02890	N	0.133962	T	0.10337	0.0253	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.16424	-1.0403	10	0.10377	T	0.69	-0.0058	3.3574	0.07174	0.2126:0.1533:0.4831:0.1509	.	472;509	Q9NSN8-2;Q9NSN8	.;SNTG1_HUMAN	A	509;509;472;472	ENSP00000429276:T509A;ENSP00000429842:T509A;ENSP00000431123:T472A;ENSP00000276467:T472A	ENSP00000276467:T472A	T	+	1	0	SNTG1	51867913	0.154000	0.22792	0.000000	0.03702	0.016000	0.09150	0.696000	0.25541	-0.536000	0.06298	-0.312000	0.09012	ACC		0.433	SNTG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377964.1			25	56	0	0	0	0.008361	0	25	56				
C8orf46	254778	broad.mit.edu	37	8	67422362	67422362	+	Silent	SNP	G	G	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr8:67422362G>A	ENST00000305454.3	+	4	753	c.312G>A	c.(310-312)ctG>ctA	p.L104L	C8orf46_ENST00000522977.1_Intron|C8orf46_ENST00000521495.1_Silent_p.L104L|C8orf46_ENST00000482608.2_3'UTR|C8orf46_ENST00000480005.1_Silent_p.L104L	NM_152765.3	NP_689978.2	Q8TAG6	CH046_HUMAN	chromosome 8 open reading frame 46	104										endometrium(1)|large_intestine(1)|lung(1)|prostate(1)|skin(2)	6			Epithelial(68;0.0224)|BRCA - Breast invasive adenocarcinoma(89;0.0508)|all cancers(69;0.0558)|OV - Ovarian serous cystadenocarcinoma(28;0.226)			CATCAAATCTGTGTGGGAATC	0.433																																							uc003xwg.2		NA																	0		p.C104W(1)|p.C104Y(1)		skin(2)	2						c.(310-312)CTG>CTA		hypothetical protein LOC254778							151.0	136.0	141.0					8																	67422362		2203	4300	6503	SO:0001819	synonymous_variant	254778							g.chr8:67422362G>A	BC028400	CCDS6191.2	8q13.1	2005-08-09			ENSG00000169085	ENSG00000169085			28498	protein-coding gene	gene with protein product						12477932	Standard	NM_152765		Approved	MGC33510	uc003xwg.3	Q8TAG6	OTTHUMG00000156998	ENST00000305454.3:c.312G>A	8.37:g.67422362G>A						C8orf46_uc003xwh.2_RNA|C8orf46_uc011let.1_Intron|C8orf46_uc003xwi.2_Translation_Start_Site	p.L104L	NM_152765	NP_689978	Q8TAG6	CH046_HUMAN	Epithelial(68;0.0224)|BRCA - Breast invasive adenocarcinoma(89;0.0508)|all cancers(69;0.0558)|OV - Ovarian serous cystadenocarcinoma(28;0.226)		4	705	+			104					B2RDC3|B4DFU4|C9J814|C9JCS3	Silent	SNP	ENST00000305454.3	37	c.312G>A	CCDS6191.2																																																																																				0.433	C8orf46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347010.1	NM_152765		16	64	0	0	0	0.006122	0	16	64				
MCMDC2	157777	broad.mit.edu	37	8	67791074	67791074	+	Missense_Mutation	SNP	C	C	G			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr8:67791074C>G	ENST00000422365.2	+	7	800	c.629C>G	c.(628-630)gCc>gGc	p.A210G	MCMDC2_ENST00000492775.1_Missense_Mutation_p.A210G|MCMDC2_ENST00000396592.3_Missense_Mutation_p.A210G|MCMDC2_ENST00000541540.1_Missense_Mutation_p.A147G|MCMDC2_ENST00000313616.5_Missense_Mutation_p.A210G	NM_173518.4	NP_775789.3	Q4G0Z9	MCMD2_HUMAN	minichromosome maintenance domain containing 2	210					DNA replication (GO:0006260)		ATP binding (GO:0005524)|DNA binding (GO:0003677)			endometrium(2)|kidney(2)|lung(5)	9						GAAATAATTGCCACAAAGGCA	0.279																																							uc003xwz.3		NA																	0				ovary(1)	1						c.(628-630)GCC>GGC		minichromosome maintenance complex							36.0	38.0	37.0					8																	67791074		2203	4298	6501	SO:0001583	missense	157777				DNA replication		ATP binding|DNA binding	g.chr8:67791074C>G	BC034576	CCDS6197.2, CCDS47868.1, CCDS47869.1	8q13.1	2012-04-13	2012-04-13	2012-04-13	ENSG00000178460	ENSG00000178460			26368	protein-coding gene	gene with protein product			"""chromosome 8 open reading frame 45"""	C8orf45			Standard	NM_173518		Approved	FLJ25692	uc003xwz.4	Q4G0Z9	OTTHUMG00000157068	ENST00000422365.2:c.629C>G	8.37:g.67791074C>G	ENSP00000413632:p.Ala210Gly					C8orf45_uc003xwv.2_Missense_Mutation_p.A210G|C8orf45_uc011lev.1_Missense_Mutation_p.A210G|C8orf45_uc011lew.1_Missense_Mutation_p.A141G|C8orf45_uc011lex.1_5'UTR|C8orf45_uc003xwy.3_Missense_Mutation_p.A210G	p.A210G	NM_173518	NP_775789	Q4G0Z9	CH045_HUMAN	Epithelial(68;0.00384)|OV - Ovarian serous cystadenocarcinoma(28;0.00913)|all cancers(69;0.0175)|BRCA - Breast invasive adenocarcinoma(89;0.206)		7	800	+	Breast(64;0.186)		210					B4DYZ3|B4DZM4|B4E293|Q6P533|Q7Z3P4	Missense_Mutation	SNP	ENST00000422365.2	37	c.629C>G	CCDS6197.2	.	.	.	.	.	.	.	.	.	.	C	9.869	1.198399	0.22037	.	.	ENSG00000178460	ENST00000379356;ENST00000396592;ENST00000422365;ENST00000492775;ENST00000313616;ENST00000541540	T;T;T;T;T	0.30182	1.54;1.54;1.54;1.54;1.54	5.66	5.66	0.87406	.	0.533866	0.20801	N	0.085423	T	0.22781	0.0550	N	0.22421	0.69	0.09310	N	0.999992	B;B;B;B	0.19200	0.034;0.02;0.02;0.01	B;B;B;B	0.18561	0.022;0.01;0.01;0.022	T	0.12837	-1.0532	10	0.48119	T	0.1	0.2161	12.7769	0.57453	0.2731:0.7269:0.0:0.0	.	147;210;210;210	Q4G0Z9-4;Q4G0Z9;B4DXX4;G3XAN3	.;CH045_HUMAN;.;.	G	82;210;210;210;210;147	ENSP00000379837:A210G;ENSP00000413632:A210G;ENSP00000428037:A210G;ENSP00000317234:A210G;ENSP00000445629:A147G	ENSP00000317234:A210G	A	+	2	0	C8orf45	67953628	0.901000	0.30685	0.012000	0.15200	0.953000	0.61014	4.218000	0.58554	2.649000	0.89929	0.591000	0.81541	GCC		0.279	MCMDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347350.1	NM_173518		12	26	0	0	0	0.003163	0	12	26				
PRDM14	63978	broad.mit.edu	37	8	70978496	70978496	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr8:70978496C>A	ENST00000276594.2	-	5	1358	c.1157G>T	c.(1156-1158)gGg>gTg	p.G386V		NM_024504.3	NP_078780.1	Q9GZV8	PRD14_HUMAN	PR domain containing 14	386					cell fate specification (GO:0001708)|cell morphogenesis (GO:0000902)|fertilization (GO:0009566)|germ cell development (GO:0007281)|germ-line stem cell maintenance (GO:0030718)|histone H3-R26 methylation (GO:0034972)|homeostasis of number of cells within a tissue (GO:0048873)|inner cell mass cell fate commitment (GO:0001827)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|regulation of DNA methylation (GO:0044030)|regulation of gene expression, epigenetic (GO:0040029)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			NS(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Breast(64;0.193)		Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405)			TGGCTGCTTCCCCGGCTCTGT	0.537																																					NSCLC(129;99 1813 5906 40656 46114)	NSCLC(129;99 1813 5906 40656 46114)	uc003xym.2		NA																	0				ovary(3)	3						c.(1156-1158)GGG>GTG		PR domain containing 14							62.0	66.0	65.0					8																	70978496		2203	4300	6503	SO:0001583	missense	63978				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr8:70978496C>A	AF319458	CCDS6206.1	8q13.3	2013-01-08			ENSG00000147596	ENSG00000147596		"""Zinc fingers, C2H2-type"""	14001	protein-coding gene	gene with protein product		611781					Standard	NM_024504		Approved		uc003xym.3	Q9GZV8	OTTHUMG00000150495	ENST00000276594.2:c.1157G>T	8.37:g.70978496C>A	ENSP00000276594:p.Gly386Val						p.G386V	NM_024504	NP_078780	Q9GZV8	PRD14_HUMAN	Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405)		5	1359	-	Breast(64;0.193)		386					Q86UX9	Missense_Mutation	SNP	ENST00000276594.2	37	c.1157G>T	CCDS6206.1	.	.	.	.	.	.	.	.	.	.	C	14.62	2.589325	0.46214	.	.	ENSG00000147596	ENST00000276594	T	0.13196	2.61	5.46	4.59	0.56863	.	0.269791	0.36303	N	0.002663	T	0.16896	0.0406	N	0.19112	0.55	0.25163	N	0.99034	D	0.65815	0.995	P	0.56343	0.796	T	0.03795	-1.1003	10	0.59425	D	0.04	-14.3011	11.1041	0.48193	0.0:0.7355:0.1934:0.0711	.	386	Q9GZV8	PRD14_HUMAN	V	386	ENSP00000276594:G386V	ENSP00000276594:G386V	G	-	2	0	PRDM14	71141050	0.028000	0.19301	0.014000	0.15608	0.590000	0.36582	2.159000	0.42339	1.307000	0.44944	-0.258000	0.10820	GGG		0.537	PRDM14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318505.1			18	41	1	0	4.26978e-12	0.00333	5.46727e-12	18	41				
CRISPLD1	83690	broad.mit.edu	37	8	75927069	75927069	+	Missense_Mutation	SNP	C	C	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr8:75927069C>T	ENST00000262207.4	+	6	1117	c.649C>T	c.(649-651)Cct>Tct	p.P217S	CRISPLD1_ENST00000523524.1_Missense_Mutation_p.P29S|CRISPLD1_ENST00000517786.1_Missense_Mutation_p.P31S	NM_031461.5	NP_113649.1	Q9H336	CRLD1_HUMAN	cysteine-rich secretory protein LCCL domain containing 1	217					face morphogenesis (GO:0060325)	extracellular vesicular exosome (GO:0070062)				biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(7)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(64;0.0799)		Epithelial(68;0.155)|BRCA - Breast invasive adenocarcinoma(89;0.161)			GGGCCATGCCCCTTACAAACA	0.423																																							uc003yan.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(649-651)CCT>TCT		cysteine-rich secretory protein LCCL domain							52.0	49.0	50.0					8																	75927069		2202	4300	6502	SO:0001583	missense	83690					extracellular region		g.chr8:75927069C>T	AL834301	CCDS6219.1, CCDS69497.1, CCDS75754.1	8q21.13	2005-09-23	2005-02-16	2005-02-16	ENSG00000121005	ENSG00000121005			18206	protein-coding gene	gene with protein product			"""LCCL domain containing cysteine-rich secretory protein 1"""	LCRISP1			Standard	NM_031461		Approved	Cocoacrisp, DKFZp762F133	uc003yan.3	Q9H336	OTTHUMG00000164529	ENST00000262207.4:c.649C>T	8.37:g.75927069C>T	ENSP00000262207:p.Pro217Ser					CRISPLD1_uc011lfk.1_Missense_Mutation_p.P29S|CRISPLD1_uc011lfl.1_Missense_Mutation_p.P29S	p.P217S	NM_031461	NP_113649	Q9H336	CRLD1_HUMAN	Epithelial(68;0.155)|BRCA - Breast invasive adenocarcinoma(89;0.161)		6	1024	+	Breast(64;0.0799)		217					B2RA60|B7Z929	Missense_Mutation	SNP	ENST00000262207.4	37	c.649C>T	CCDS6219.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.841390	0.91197	.	.	ENSG00000121005	ENST00000262207;ENST00000523524;ENST00000517786	T;D;D	0.93133	2.75;-1.7;-3.17	4.6	4.6	0.57074	CAP domain (2);	0.000000	0.85682	D	0.000000	D	0.96697	0.8922	M	0.80422	2.495	0.80722	D	1	D;D	0.89917	0.997;1.0	D;D	0.87578	0.986;0.998	D	0.97392	0.9990	10	0.87932	D	0	.	17.6038	0.88032	0.0:1.0:0.0:0.0	.	31;217	B7Z929;Q9H336	.;CRLD1_HUMAN	S	217;29;31	ENSP00000262207:P217S;ENSP00000430105:P29S;ENSP00000429746:P31S	ENSP00000262207:P217S	P	+	1	0	CRISPLD1	76089624	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	7.597000	0.82733	2.381000	0.81170	0.460000	0.39030	CCT		0.423	CRISPLD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379117.1	NM_031461		6	19	0	0	0	0.001168	0	6	19				
ZFHX4	79776	broad.mit.edu	37	8	77619980	77619980	+	Silent	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr8:77619980C>A	ENST00000521891.2	+	3	3238	c.2790C>A	c.(2788-2790)ctC>ctA	p.L930L	ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000455469.2_Silent_p.L904L|ZFHX4_ENST00000050961.6_Silent_p.L904L|ZFHX4_ENST00000518282.1_Silent_p.L904L	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	904					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)			AGCGCTCTCTCCCTGAAGAGG	0.512										HNSCC(33;0.089)																													uc003yav.2		NA																	0				ovary(8)|large_intestine(4)|breast(2)|lung(1)	15						c.(2710-2712)CTC>CTA		zinc finger homeodomain 4							75.0	73.0	74.0					8																	77619980		2200	4298	6498	SO:0001819	synonymous_variant	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77619980C>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.2790C>A	8.37:g.77619980C>A		HNSCC(33;0.089)				ZFHX4_uc003yat.1_Silent_p.L904L|ZFHX4_uc003yau.1_Silent_p.L930L|ZFHX4_uc003yaw.1_Silent_p.L904L	p.L904L	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		3	3099	+			904					G3V138|Q18PS0|Q6ZN20	Silent	SNP	ENST00000521891.2	37	c.2712C>A	CCDS47878.2																																																																																				0.512	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		7	17	1	0	3.09899e-07	0.004482	3.55731e-07	7	17				
TPD52	7163	broad.mit.edu	37	8	80976712	80976712	+	Splice_Site	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr8:80976712C>A	ENST00000379097.3	-	2	618		c.e2+1		TPD52_ENST00000537855.1_Splice_Site|TPD52_ENST00000517427.1_Splice_Site|TPD52_ENST00000520527.1_Splice_Site|TPD52_ENST00000518937.1_Splice_Site|TPD52_ENST00000448733.2_Splice_Site|TPD52_ENST00000379096.5_Splice_Site|TPD52_ENST00000519303.2_Splice_Site	NM_001025252.1	NP_001020423.1	P55327	TPD52_HUMAN	tumor protein D52						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)			TGGTTCTTTACCTTTGCAAGT	0.428																																							uc003ybr.1		NA																	0				ovary(1)	1						c.e2+1		tumor protein D52 isoform 1							150.0	135.0	140.0					8																	80976712		2203	4300	6503	SO:0001630	splice_region_variant	7163				anatomical structure morphogenesis|B cell differentiation|secretion	endoplasmic reticulum|perinuclear region of cytoplasm	calcium ion binding|protein heterodimerization activity|protein homodimerization activity	g.chr8:80976712C>A	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.255+1G>T	8.37:g.80976712C>A						TPD52_uc010lzr.2_Splice_Site|TPD52_uc010lzs.1_Splice_Site|TPD52_uc003ybs.1_Splice_Site_p.K45_splice|TPD52_uc003ybt.1_Splice_Site_p.K45_splice|TPD52_uc003ybq.1_Intron|TPD52_uc003ybu.1_Intron	p.K85_splice	NM_001025252	NP_001020423	P55327	TPD52_HUMAN	BRCA - Breast invasive adenocarcinoma(6;0.00181)|Epithelial(68;0.0149)|all cancers(69;0.0612)		2	577	-	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)						B7Z414|C9J502|D0UFD1|D0UFD2|D0UFD3|D0UFD4|D0UFD5|E5RKB4|Q13056|Q53EK8|Q6FGP3|Q6FGS3|Q86YZ2|Q9UCX8	Splice_Site	SNP	ENST00000379097.3	37	c.255_splice	CCDS34912.1	.	.	.	.	.	.	.	.	.	.	C	16.42	3.119364	0.56505	.	.	ENSG00000076554	ENST00000537855;ENST00000379096;ENST00000518937;ENST00000520527;ENST00000517427;ENST00000448733;ENST00000543691;ENST00000379097;ENST00000425513;ENST00000520795	.	.	.	4.96	4.96	0.65561	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.1575	0.81676	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TPD52	81139267	1.000000	0.71417	0.996000	0.52242	0.836000	0.47400	4.356000	0.59430	2.589000	0.87451	0.591000	0.81541	.		0.428	TPD52-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000379539.2	NM_005079	Intron	17	47	1	0	1.02788e-11	0.00499	1.30786e-11	17	47				
RALYL	138046	broad.mit.edu	37	8	85441665	85441665	+	Missense_Mutation	SNP	G	G	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr8:85441665G>A	ENST00000521268.1	+	2	1214	c.109G>A	c.(109-111)Gac>Aac	p.D37N	RALYL_ENST00000518566.1_Missense_Mutation_p.D37N|RALYL_ENST00000522455.1_Missense_Mutation_p.D37N|RALYL_ENST00000521695.1_Missense_Mutation_p.D37N|RALYL_ENST00000517638.1_Missense_Mutation_p.D50N	NM_173848.5	NP_776247.3	Q86SE5	RALYL_HUMAN	RALY RNA binding protein-like	37	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.						nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)	24						CAAGAAAGTTGACATTGAAGC	0.408																																							uc003ycq.3		NA																	0				ovary(1)	1						c.(109-111)GAC>AAC		RALY RNA binding protein-like isoform 2							64.0	65.0	65.0					8																	85441665		1975	4168	6143	SO:0001583	missense	138046						identical protein binding|nucleotide binding|RNA binding	g.chr8:85441665G>A		CCDS55252.1, CCDS55253.1, CCDS75760.1, CCDS75761.1	8q21.2	2013-07-16			ENSG00000184672	ENSG00000184672		"""RNA binding motif (RRM) containing"""	27036	protein-coding gene	gene with protein product		614648				12688537	Standard	NM_001100391		Approved	HNRPCL3	uc003yct.4	Q86SE5	OTTHUMG00000164628	ENST00000521268.1:c.109G>A	8.37:g.85441665G>A	ENSP00000430367:p.Asp37Asn					RALYL_uc003ycr.3_Missense_Mutation_p.D37N|RALYL_uc003ycs.3_Missense_Mutation_p.D37N|RALYL_uc010lzy.2_Missense_Mutation_p.D37N|RALYL_uc003yct.3_Missense_Mutation_p.D50N	p.D37N	NM_001100392	NP_001093862	Q86SE5	RALYL_HUMAN			3	525	+			37			RRM.		B3KTH2|G3V129|Q6ZW87|Q8N1C2	Missense_Mutation	SNP	ENST00000521268.1	37	c.109G>A	CCDS55253.1	.	.	.	.	.	.	.	.	.	.	G	34	5.388521	0.95988	.	.	ENSG00000184672	ENST00000522613;ENST00000522455;ENST00000521695;ENST00000521268;ENST00000518566;ENST00000517988;ENST00000517638;ENST00000522647	T;T;T;T;T;T;T;T	0.51817	2.17;2.17;2.17;2.17;2.17;2.17;2.17;0.69	5.25	5.25	0.73442	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.053270	0.64402	D	0.000001	T	0.74489	0.3723	M	0.87682	2.9	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.99;0.997	T	0.79232	-0.1888	10	0.87932	D	0	.	19.2595	0.93962	0.0:0.0:1.0:0.0	.	37;50;37	B3KT61;G3V129;Q86SE5	.;.;RALYL_HUMAN	N	37;37;37;37;37;37;50;37	ENSP00000427787:D37N;ENSP00000430394:D37N;ENSP00000428667:D37N;ENSP00000430367:D37N;ENSP00000430065:D37N;ENSP00000428711:D37N;ENSP00000430128:D50N;ENSP00000429284:D37N	ENSP00000430128:D50N	D	+	1	0	RALYL	85604220	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.812000	0.99227	2.626000	0.88956	0.551000	0.68910	GAC		0.408	RALYL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379448.1			5	12	0	0	0	0.001984	0	5	12				
DCAF4L2	138009	broad.mit.edu	37	8	88885761	88885761	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr8:88885761C>A	ENST00000319675.3	-	1	535	c.439G>T	c.(439-441)Gtg>Ttg	p.V147L		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	147								p.V147L(2)		breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						GCAAGTCCCACGAAGCACAGC	0.542																																							uc003ydz.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(439-441)GTG>TTG		WD repeat domain 21C							94.0	88.0	90.0					8																	88885761		2203	4300	6503	SO:0001583	missense	138009							g.chr8:88885761C>A	AL833507	CCDS6245.1	8q21.3	2013-01-09	2009-07-17	2009-07-17		ENSG00000176566		"""WD repeat domain containing"""	26657	protein-coding gene	gene with protein product			"""WD repeat domain 21C"""	WDR21C		14702039	Standard	NM_152418		Approved		uc003ydz.3	Q8NA75		ENST00000319675.3:c.439G>T	8.37:g.88885761C>A	ENSP00000316496:p.Val147Leu						p.V147L	NM_152418	NP_689631	Q8NA75	DC4L2_HUMAN			1	536	-			147						Missense_Mutation	SNP	ENST00000319675.3	37	c.439G>T	CCDS6245.1	.	.	.	.	.	.	.	.	.	.	C	0.284	-0.984162	0.02180	.	.	ENSG00000176566	ENST00000319675	T	0.70399	-0.48	1.68	-3.35	0.04928	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.231946	0.52532	N	0.000079	T	0.44767	0.1309	N	0.22421	0.69	0.09310	N	1	B	0.06786	0.001	B	0.09377	0.004	T	0.16041	-1.0416	10	0.24483	T	0.36	.	3.5905	0.07986	0.0:0.1977:0.397:0.4053	.	147	Q8NA75	DC4L2_HUMAN	L	147	ENSP00000316496:V147L	ENSP00000316496:V147L	V	-	1	0	DCAF4L2	88954877	1.000000	0.71417	0.004000	0.12327	0.073000	0.16967	1.069000	0.30641	-1.604000	0.01595	-0.373000	0.07131	GTG		0.542	DCAF4L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375302.1	NM_152418		20	45	1	0	5.35047e-06	0.00333	6.01183e-06	20	45				
SLC26A7	115111	broad.mit.edu	37	8	92346636	92346636	+	Missense_Mutation	SNP	A	A	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr8:92346636A>T	ENST00000276609.3	+	6	995	c.756A>T	c.(754-756)aaA>aaT	p.K252N	SLC26A7_ENST00000309536.2_Missense_Mutation_p.K252N|SLC26A7_ENST00000523719.1_Missense_Mutation_p.K252N	NM_001282356.1|NM_052832.2	NP_001269285.1|NP_439897.1			solute carrier family 26 (anion exchanger), member 7											breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	50			BRCA - Breast invasive adenocarcinoma(11;0.00802)			AACAGTTTAAAAGGAAAATTA	0.353																																							uc003yex.2		NA																	0				ovary(2)	2						c.(754-756)AAA>AAT		solute carrier family 26, member 7 isoform a							120.0	113.0	116.0					8																	92346636		2202	4299	6501	SO:0001583	missense	115111					basolateral plasma membrane|integral to membrane|recycling endosome membrane	anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity	g.chr8:92346636A>T	AF331521	CCDS6254.1, CCDS6255.1, CCDS75765.1	8q23	2013-07-18	2013-07-18		ENSG00000147606	ENSG00000147606		"""Solute carriers"""	14467	protein-coding gene	gene with protein product		608479	"""solute carrier family 26, member 7"""			11834742, 11829495, 16524946	Standard	NM_134266		Approved	SUT2	uc003yez.3	Q8TE54	OTTHUMG00000164062	ENST00000276609.3:c.756A>T	8.37:g.92346636A>T	ENSP00000276609:p.Lys252Asn					SLC26A7_uc003yey.2_RNA|SLC26A7_uc003yez.2_Missense_Mutation_p.K252N|SLC26A7_uc003yfa.2_Missense_Mutation_p.K252N	p.K252N	NM_052832	NP_439897	Q8TE54	S26A7_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.00802)		7	1034	+			252			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000276609.3	37	c.756A>T	CCDS6254.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	15.54|15.54	2.864483|2.864483	0.51482|0.51482	.|.	.|.	ENSG00000147606|ENSG00000147606	ENST00000520818|ENST00000523719;ENST00000276609;ENST00000309536	D|D;D;D	0.94000|0.93712	-3.33|-3.27;-3.27;-3.27	5.53|5.53	-1.31|-1.31	0.09230|0.09230	.|Sulphate transporter (1);	0.063729|0.063729	0.64402|0.64402	D|D	0.000005|0.000005	D|D	0.89781|0.89781	0.6814|0.6814	L|L	0.58810|0.58810	1.83|1.83	0.29282|0.29282	N|N	0.869974|0.869974	.|P;P	.|0.47484	.|0.873;0.896	.|B;B	.|0.43838	.|0.306;0.433	D|D	0.85163|0.85163	0.0993|0.0993	8|10	0.87932|0.72032	D|D	0|0.01	.|.	7.463|7.463	0.27306|0.27306	0.6002:0.106:0.2938:0.0|0.6002:0.106:0.2938:0.0	.|.	.|252;252	.|Q8TE54-2;Q8TE54	.|.;S26A7_HUMAN	I|N	120|252	ENSP00000428747:K120I|ENSP00000428849:K252N;ENSP00000276609:K252N;ENSP00000309504:K252N	ENSP00000428747:K120I|ENSP00000276609:K252N	K|K	+|+	2|3	0|2	SLC26A7|SLC26A7	92415812|92415812	0.995000|0.995000	0.38212|0.38212	0.991000|0.991000	0.47740|0.47740	0.995000|0.995000	0.86356|0.86356	0.298000|0.298000	0.19120|0.19120	-0.374000|-0.374000	0.07967|0.07967	0.533000|0.533000	0.62120|0.62120	AAA|AAA		0.353	SLC26A7-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377011.1			5	19	0	0	0	0.001168	0	5	19				
GEM	2669	broad.mit.edu	37	8	95264412	95264412	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr8:95264412C>A	ENST00000297596.2	-	4	712	c.448G>T	c.(448-450)Ggg>Tgg	p.G150W	GEM_ENST00000396194.2_Missense_Mutation_p.G150W	NM_005261.3	NP_005252.1	P55040	GEM_HUMAN	GTP binding protein overexpressed in skeletal muscle	150					cell surface receptor signaling pathway (GO:0007166)|chromosome organization (GO:0051276)|immune response (GO:0006955)|metaphase plate congression (GO:0051310)|mitotic nuclear division (GO:0007067)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic side of plasma membrane (GO:0009898)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|nucleus (GO:0005634)|spindle midzone (GO:0051233)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|magnesium ion binding (GO:0000287)			endometrium(3)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	22	Breast(36;4.65e-06)	Myeloproliferative disorder(644;0.204)	BRCA - Breast invasive adenocarcinoma(8;0.00691)			TATGCGTCCCCGACCTGCATG	0.517																																					GBM(125;80 1653 28655 32188 47338)|Esophageal Squamous(19;97 579 13602 49091 51766)	GBM(125;80 1653 28655 32188 47338)|Esophageal Squamous(19;97 579 13602 49091 51766)	uc003ygj.2		NA																	0				lung(1)	1						c.(448-450)GGG>TGG		GTP-binding mitogen-induced T-cell protein							82.0	73.0	76.0					8																	95264412		2203	4300	6503	SO:0001583	missense	2669				cell surface receptor linked signaling pathway|immune response|small GTPase mediated signal transduction	internal side of plasma membrane	calmodulin binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding	g.chr8:95264412C>A		CCDS6261.1	8q13-q21	2014-05-09	2001-11-28		ENSG00000164949	ENSG00000164949			4234	protein-coding gene	gene with protein product	"""kinase-inducible Ras-like protein"""	600164	"""GTP-binding protein overexpressed in skeletal muscle"""			7912851, 11956230	Standard	NM_005261		Approved	KIR	uc003ygj.3	P55040	OTTHUMG00000164392	ENST00000297596.2:c.448G>T	8.37:g.95264412C>A	ENSP00000297596:p.Gly150Trp					GEM_uc003ygi.2_Missense_Mutation_p.G150W	p.G150W	NM_005261	NP_005252	P55040	GEM_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.00691)		4	697	-	Breast(36;4.65e-06)	Myeloproliferative disorder(644;0.204)	150					B2RA31	Missense_Mutation	SNP	ENST00000297596.2	37	c.448G>T	CCDS6261.1	.	.	.	.	.	.	.	.	.	.	C	32	5.135277	0.94517	.	.	ENSG00000164949	ENST00000396194;ENST00000297596	T;T	0.80033	-1.33;-1.33	6.17	6.17	0.99709	Small GTP-binding protein domain (1);	0.101171	0.64402	D	0.000002	D	0.93752	0.8003	H	0.96301	3.8	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94493	0.7703	10	0.87932	D	0	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	150	P55040	GEM_HUMAN	W	150	ENSP00000379497:G150W;ENSP00000297596:G150W	ENSP00000297596:G150W	G	-	1	0	GEM	95333588	1.000000	0.71417	0.977000	0.42913	0.958000	0.62258	7.818000	0.86416	2.941000	0.99782	0.655000	0.94253	GGG		0.517	GEM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378566.1	NM_181702		24	55	1	0	2.48779e-11	0.005443	3.1456e-11	24	55				
ESRP1	54845	broad.mit.edu	37	8	95690505	95690505	+	Missense_Mutation	SNP	T	T	C			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr8:95690505T>C	ENST00000433389.2	+	13	1916	c.1726T>C	c.(1726-1728)Tct>Cct	p.S576P	ESRP1_ENST00000423620.2_Missense_Mutation_p.S572P|ESRP1_ENST00000454170.2_Missense_Mutation_p.S576P|ESRP1_ENST00000358397.5_Missense_Mutation_p.S572P	NM_001034915.2|NM_017697.3	NP_001030087.2|NP_060167.2	Q6NXG1	ESRP1_HUMAN	epithelial splicing regulatory protein 1	576					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						TTACCAGCCCTCTGTGATTTT	0.502																																							uc003ygq.3		NA																ESRP1/RAF1(4)	0				prostate(4)	4						c.(1726-1728)TCT>CCT		RNA binding motif protein 35A isoform 1							105.0	102.0	103.0					8																	95690505		2002	4183	6185	SO:0001583	missense	54845				mRNA processing|regulation of RNA splicing|RNA splicing	nucleus|plasma membrane	mRNA binding|nucleotide binding	g.chr8:95690505T>C	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.1726T>C	8.37:g.95690505T>C	ENSP00000405738:p.Ser576Pro					ESRP1_uc003ygr.3_Missense_Mutation_p.S572P|ESRP1_uc003ygs.3_Missense_Mutation_p.S572P|ESRP1_uc003ygt.3_Missense_Mutation_p.S576P|ESRP1_uc003ygu.3_Missense_Mutation_p.S572P|ESRP1_uc003ygv.2_Missense_Mutation_p.S416P|ESRP1_uc003ygw.2_Missense_Mutation_p.S416P	p.S576P	NM_017697	NP_060167	Q6NXG1	ESRP1_HUMAN			13	1909	+			576					A6NHA8|A8MPX1|E9PB47|Q2M2B0|Q499G3|Q6PJ86|Q9NXL8	Missense_Mutation	SNP	ENST00000433389.2	37	c.1726T>C	CCDS47897.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	17.66|17.66	3.444278|3.444278	0.63178|0.63178	.|.	.|.	ENSG00000104413|ENSG00000104413	ENST00000519505|ENST00000423620;ENST00000433389;ENST00000358397;ENST00000454170;ENST00000517610	.|T;T;T;T;T	.|0.12255	.|2.86;2.88;2.85;2.89;2.7	5.36|5.36	5.36|5.36	0.76844|0.76844	.|.	.|0.226042	.|0.47455	.|D	.|0.000229	T|T	0.13072|0.13072	0.0317|0.0317	L|L	0.40543|0.40543	1.245|1.245	0.46078|0.46078	D|D	0.998857|0.998857	.|B;B;B;B;B;B	.|0.27679	.|0.185;0.016;0.004;0.001;0.004;0.002	.|B;B;B;B;B;B	.|0.20955	.|0.032;0.013;0.012;0.001;0.017;0.012	T|T	0.05257|0.05257	-1.0896|-1.0896	5|10	.|0.32370	.|T	.|0.25	-18.0148|-18.0148	15.6568|15.6568	0.77144|0.77144	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|576;576;576;572;572;576	.|D7PBN3;Q6NXG1-4;Q6NXG1-2;E9PB47;Q6NXG1-3;Q6NXG1	.|.;.;.;.;.;ESRP1_HUMAN	P|P	441|572;576;572;576;435	.|ENSP00000407349:S572P;ENSP00000405738:S576P;ENSP00000351168:S572P;ENSP00000402766:S576P;ENSP00000429125:S435P	.|ENSP00000351168:S572P	L|S	+|+	2|1	0|0	ESRP1|ESRP1	95759681|95759681	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.989000|0.989000	0.77384|0.77384	5.644000|5.644000	0.67902|0.67902	2.146000|2.146000	0.66826|0.66826	0.533000|0.533000	0.62120|0.62120	CTC|TCT		0.502	ESRP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379326.1	NM_017697		15	28	0	0	0	0.006122	0	15	28				
RIMS2	9699	broad.mit.edu	37	8	105001560	105001560	+	Silent	SNP	G	G	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr8:105001560G>T	ENST00000436393.2	+	15	2530	c.2289G>T	c.(2287-2289)ggG>ggT	p.G763G	RIMS2_ENST00000406091.3_Silent_p.G985G|RIMS2_ENST00000262231.10_Silent_p.G824G|RIMS2_ENST00000507740.1_Silent_p.G777G			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	1047					calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cAMP-mediated signaling (GO:0019933)|insulin secretion (GO:0030073)|intracellular protein transport (GO:0006886)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|regulation of exocytosis (GO:0017157)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			GGCTTCGAGGGACCCGCACTA	0.388										HNSCC(12;0.0054)																													uc003yls.2		NA																	0				ovary(6)|lung(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	15						c.(2287-2289)GGG>GGT		regulating synaptic membrane exocytosis 2							132.0	131.0	131.0					8																	105001560		1874	4096	5970	SO:0001819	synonymous_variant	9699				intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	g.chr8:105001560G>T	AB018294	CCDS43761.1, CCDS64948.1, CCDS64949.1	8q22.3	2008-08-08	2002-06-12	2002-06-14					17283	protein-coding gene	gene with protein product		606630	"""RAB3 interacting protein 3"""	RAB3IP3		9872452, 12578829	Standard	NM_014677		Approved	KIAA0751, RIM2, OBOE	uc003ylp.3	Q9UQ26		ENST00000436393.2:c.2289G>T	8.37:g.105001560G>T		HNSCC(12;0.0054)				RIMS2_uc003ylp.2_Silent_p.G985G|RIMS2_uc003ylw.2_Silent_p.G777G|RIMS2_uc003ylq.2_Silent_p.G777G|RIMS2_uc003ylr.2_Silent_p.G824G	p.G763G	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)		15	2530	+			1047					B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	Silent	SNP	ENST00000436393.2	37	c.2289G>T																																																																																					0.388	RIMS2-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000367217.1	NM_001100117		34	94	1	0	4.92203e-23	0.00623	7.26071e-23	34	94				
ZFPM2	23414	broad.mit.edu	37	8	106811019	106811019	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr8:106811019G>T	ENST00000407775.2	+	7	1057	c.807G>T	c.(805-807)ttG>ttT	p.L269F	RP11-152P17.2_ENST00000520594.1_RNA|RP11-152P17.2_ENST00000509144.2_RNA|RP11-152P17.2_ENST00000518932.1_RNA|ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000520433.1_RNA|ZFPM2_ENST00000517361.1_Missense_Mutation_p.L137F|ZFPM2_ENST00000378472.4_5'UTR|ZFPM2_ENST00000520492.1_Missense_Mutation_p.L137F|RP11-152P17.2_ENST00000521622.1_RNA|RP11-152P17.2_ENST00000524045.2_RNA	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	269					blood coagulation (GO:0007596)|embryonic organ development (GO:0048568)|gonadal mesoderm development (GO:0007506)|in utero embryonic development (GO:0001701)|lung development (GO:0030324)|negative regulation of cell death (GO:0060548)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of female gonad development (GO:2000195)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of male gonad development (GO:2000020)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|right ventricular cardiac muscle tissue morphogenesis (GO:0003221)|vasculogenesis (GO:0001570)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			AGGCCCATTTGATGTACTACT	0.507																																							uc003ymd.2		NA																	0				ovary(4)|large_intestine(1)	5						c.(805-807)TTG>TTT		zinc finger protein, multitype 2							105.0	105.0	105.0					8																	106811019		2063	4217	6280	SO:0001583	missense	23414				blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding	g.chr8:106811019G>T	AF119334	CCDS47908.1	8q23	2013-01-10	2012-11-27		ENSG00000169946	ENSG00000169946		"""Zinc fingers, C2H2-type"", ""Zinc fingers, C2HC-type containing"""	16700	protein-coding gene	gene with protein product		603693	"""zinc finger protein, multitype 2"""			9927675, 10438528	Standard	NM_012082		Approved	FOG2, hFOG-2, ZNF89B, ZC2HC11B	uc003ymd.3	Q8WW38	OTTHUMG00000164818	ENST00000407775.2:c.807G>T	8.37:g.106811019G>T	ENSP00000384179:p.Leu269Phe					ZFPM2_uc011lhs.1_5'UTR|uc003yme.1_5'Flank	p.L269F	NM_012082	NP_036214	Q8WW38	FOG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)		7	830	+			269			C2HC-type 1.		Q32MA6|Q9NPL7|Q9NPS4|Q9UNI5	Missense_Mutation	SNP	ENST00000407775.2	37	c.807G>T	CCDS47908.1	.	.	.	.	.	.	.	.	.	.	G	19.34	3.808881	0.70797	.	.	ENSG00000169946	ENST00000407775;ENST00000520492;ENST00000517361	T;T;T	0.30448	1.53;1.53;1.53	6.06	4.17	0.49024	Zinc finger, C2H2-like (1);	0.000000	0.85682	D	0.000000	T	0.41926	0.1180	M	0.68952	2.095	0.80722	D	1	D	0.52996	0.957	P	0.57324	0.818	T	0.41179	-0.9523	10	0.72032	D	0.01	.	4.0181	0.09654	0.0995:0.4017:0.3811:0.1178	.	269	Q8WW38	FOG2_HUMAN	F	269;137;137	ENSP00000384179:L269F;ENSP00000430757:L137F;ENSP00000428720:L137F	ENSP00000384179:L269F	L	+	3	2	ZFPM2	106880195	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.812000	0.27211	1.485000	0.48380	0.650000	0.86243	TTG		0.507	ZFPM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380614.1			10	26	1	0	4.68919e-08	0.008291	5.51444e-08	10	26				
ANGPT1	284	broad.mit.edu	37	8	108306254	108306254	+	Missense_Mutation	SNP	A	A	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr8:108306254A>T	ENST00000520734.1	-	5	633	c.348T>A	c.(346-348)aaT>aaA	p.N116K	ANGPT1_ENST00000518386.1_5'UTR|ANGPT1_ENST00000520052.1_Missense_Mutation_p.N115K			Q15389	ANGP1_HUMAN	angiopoietin 1	316					activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cell-substrate adhesion (GO:0031589)|glomerulus vasculature development (GO:0072012)|hemopoiesis (GO:0030097)|heparin biosynthetic process (GO:0030210)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell adhesion (GO:0007162)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of vascular permeability (GO:0043116)|positive chemotaxis (GO:0050918)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell adhesion (GO:0045785)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of receptor internalization (GO:0002092)|protein localization to cell surface (GO:0034394)|regulation of satellite cell proliferation (GO:0014842)|sprouting angiogenesis (GO:0002040)|Tie signaling pathway (GO:0048014)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	receptor tyrosine kinase binding (GO:0030971)			NS(1)|breast(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(13)|ovary(4)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	43	Breast(1;5.06e-08)		OV - Ovarian serous cystadenocarcinoma(57;5.53e-09)			TGACATCCATATTGCAAAACA	0.348																																							uc003ymn.2		NA																	0				ovary(3)|skin(3)|upper_aerodigestive_tract(1)	7						c.(946-948)AAT>AAA		angiopoietin 1 precursor							115.0	111.0	112.0					8																	108306254		2203	4300	6503	SO:0001583	missense	284				activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|blood coagulation|cell differentiation|heparin biosynthetic process|leukocyte migration|negative regulation of cell adhesion|negative regulation of endothelial cell apoptosis|negative regulation of vascular permeability|positive chemotaxis|positive regulation of blood vessel endothelial cell migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|positive regulation of receptor internalization|protein localization at cell surface|regulation of satellite cell proliferation|sprouting angiogenesis|Tie receptor signaling pathway	extracellular space|membrane raft|microvillus|plasma membrane	receptor tyrosine kinase binding	g.chr8:108306254A>T	D13628	CCDS6306.1, CCDS56551.1	8q23.1	2013-02-06			ENSG00000154188	ENSG00000154188		"""Fibrinogen C domain containing"""	484	protein-coding gene	gene with protein product		601667				9545648	Standard	NM_001146		Approved	KIAA0003, Ang1	uc003ymn.3	Q15389	OTTHUMG00000164812	ENST00000520734.1:c.348T>A	8.37:g.108306254A>T	ENSP00000430750:p.Asn116Lys					ANGPT1_uc011lhv.1_Missense_Mutation_p.N116K|ANGPT1_uc003ymo.2_Missense_Mutation_p.N315K|ANGPT1_uc003ymp.3_Missense_Mutation_p.N115K	p.N316K	NM_001146	NP_001137	Q15389	ANGP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;5.53e-09)		6	1416	-	Breast(1;5.06e-08)		316			Fibrinogen C-terminal.		Q5HYA0	Missense_Mutation	SNP	ENST00000520734.1	37	c.948T>A		.	.	.	.	.	.	.	.	.	.	A	16.11	3.031382	0.54790	.	.	ENSG00000154188	ENST00000517746;ENST00000297450;ENST00000395820;ENST00000520734;ENST00000520052	T;T;T;T	0.30182	1.54;1.54;1.54;1.54	5.89	1.07	0.20283	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 1 (1);	0.096172	0.64402	D	0.000001	T	0.24314	0.0589	N	0.26092	0.79	0.46458	D	0.999054	B;P;P	0.37276	0.24;0.589;0.589	B;B;B	0.42959	0.309;0.403;0.403	T	0.07829	-1.0752	10	0.87932	D	0	.	9.5056	0.39044	0.674:0.0:0.326:0.0	.	115;316;316	E7ERK4;Q5HYA0;Q15389	.;.;ANGP1_HUMAN	K	316;315;128;116;115	ENSP00000428340:N316K;ENSP00000297450:N315K;ENSP00000430750:N116K;ENSP00000429349:N115K	ENSP00000297450:N315K	N	-	3	2	ANGPT1	108375430	0.994000	0.37717	1.000000	0.80357	0.930000	0.56654	0.440000	0.21592	0.499000	0.27970	-0.262000	0.10625	AAT		0.348	ANGPT1-002	PUTATIVE	alternative_5_UTR|basic	protein_coding	protein_coding	OTTHUMT00000380428.2	NM_001146, NM_139290		29	63	0	0	0	0.004289	0	29	63				
CSMD3	114788	broad.mit.edu	37	8	114031388	114031388	+	Missense_Mutation	SNP	G	G	C			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr8:114031388G>C	ENST00000297405.5	-	6	1182	c.938C>G	c.(937-939)cCa>cGa	p.P313R	CSMD3_ENST00000343508.3_Missense_Mutation_p.P273R|CSMD3_ENST00000352409.3_Missense_Mutation_p.P313R|CSMD3_ENST00000455883.2_Missense_Mutation_p.P313R	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	313	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						AATTGGTGGTGGTATATTCAT	0.353										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																													uc003ynu.2		NA																	0				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						c.(937-939)CCA>CGA		CUB and Sushi multiple domains 3 isoform 1							192.0	175.0	181.0					8																	114031388		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:114031388G>C	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.938C>G	8.37:g.114031388G>C	ENSP00000297405:p.Pro313Arg	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003ynt.2_Missense_Mutation_p.P273R|CSMD3_uc011lhx.1_Missense_Mutation_p.P313R|CSMD3_uc010mcx.1_Missense_Mutation_p.P313R	p.P313R	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			6	1097	-			313			Extracellular (Potential).|CUB 2.		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.938C>G	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	G	18.51	3.639240	0.67244	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000455883;ENST00000352409	D;D;D;D	0.96041	-3.89;-3.89;-3.89;-3.89	5.6	5.6	0.85130	CUB (5);	0.000000	0.64402	D	0.000002	D	0.98289	0.9433	M	0.91459	3.21	0.48288	D	0.999628	B;D;D;D	0.89917	0.001;1.0;1.0;1.0	B;D;D;D	0.97110	0.004;0.999;1.0;0.999	D	0.98572	1.0646	10	0.56958	D	0.05	.	19.6181	0.95643	0.0:0.0:1.0:0.0	.	313;313;313;273	Q7Z407-3;Q7Z407-4;Q7Z407;Q7Z407-2	.;.;CSMD3_HUMAN;.	R	273;313;313;313	ENSP00000345799:P273R;ENSP00000297405:P313R;ENSP00000412263:P313R;ENSP00000343124:P313R	ENSP00000297405:P313R	P	-	2	0	CSMD3	114100564	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.471000	0.97696	2.639000	0.89480	0.460000	0.39030	CCA		0.353	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		22	62	0	0	0	0.00333	0	22	62				
TRPS1	7227	broad.mit.edu	37	8	116616280	116616280	+	Missense_Mutation	SNP	A	A	C			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr8:116616280A>C	ENST00000220888.5	-	3	2036	c.1877T>G	c.(1876-1878)gTa>gGa	p.V626G	TRPS1_ENST00000395715.3_Missense_Mutation_p.V639G|TRPS1_ENST00000519076.1_Intron|TRPS1_ENST00000519674.1_Missense_Mutation_p.V626G|TRPS1_ENST00000520276.1_Missense_Mutation_p.V630G			Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	626					chondrocyte differentiation (GO:0002062)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|regulation of chondrocyte differentiation (GO:0032330)|regulation of histone deacetylation (GO:0031063)|skeletal system development (GO:0001501)|transcription from RNA polymerase II promoter (GO:0006366)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			GAGTACATCTACGTCAGGGGT	0.517									Langer-Giedion syndrome																														uc003ynz.2		NA																	0				ovary(2)|skin(2)|pancreas(1)|lung(1)|kidney(1)	7						c.(1876-1878)GTA>GGA		zinc finger transcription factor TRPS1							83.0	81.0	81.0					8																	116616280		2051	4198	6249	SO:0001583	missense	7227	Langer-Giedion_syndrome	Familial Cancer Database	Trichorhinophalangeal syndrome type 2, TRPS II	negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:116616280A>C	AF183810	CCDS6318.2, CCDS64957.1	8q23.3	2014-06-23			ENSG00000104447	ENSG00000104447		"""GATA zinc finger domain containing"", ""Zinc fingers, C2H2-type"""	12340	protein-coding gene	gene with protein product		604386				8530105, 10615131, 10647898	Standard	NM_001282903		Approved	LGCR	uc003yny.3	Q9UHF7	OTTHUMG00000142829	ENST00000220888.5:c.1877T>G	8.37:g.116616280A>C	ENSP00000220888:p.Val626Gly					TRPS1_uc011lhy.1_Missense_Mutation_p.V630G|TRPS1_uc003yny.2_Missense_Mutation_p.V639G|TRPS1_uc010mcy.2_Missense_Mutation_p.V626G	p.V626G	NM_014112	NP_054831	Q9UHF7	TRPS1_HUMAN	Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)		3	2336	-	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		626			C2H2-type 3; atypical.		B4E1Z5|Q08AU2|Q9NWE1|Q9UHH6	Missense_Mutation	SNP	ENST00000220888.5	37	c.1877T>G		.	.	.	.	.	.	.	.	.	.	A	14.14	2.448014	0.43429	.	.	ENSG00000104447	ENST00000395715;ENST00000220888;ENST00000520276;ENST00000519674	T;T;T;T	0.13420	2.59;2.59;2.59;2.59	5.77	5.77	0.91146	Zinc finger, C2H2-like (1);	0.060764	0.64402	D	0.000003	T	0.24122	0.0584	L	0.27053	0.805	0.80722	D	1	D;D;D	0.69078	0.997;0.995;0.997	P;P;P	0.62184	0.899;0.795;0.899	T	0.01316	-1.1387	10	0.87932	D	0	.	16.3948	0.83586	1.0:0.0:0.0:0.0	.	630;626;639	Q9UHF7-3;Q9UHF7;Q9UHF7-2	.;TRPS1_HUMAN;.	G	639;626;630;626	ENSP00000379065:V639G;ENSP00000220888:V626G;ENSP00000428680:V630G;ENSP00000429174:V626G	ENSP00000220888:V626G	V	-	2	0	TRPS1	116685455	1.000000	0.71417	0.650000	0.29550	0.195000	0.23768	8.877000	0.92386	2.326000	0.78906	0.533000	0.62120	GTA		0.517	TRPS1-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000286436.3	NM_014112		10	24	0	0	0	0.001368	0	10	24				
ATAD2	29028	broad.mit.edu	37	8	124349935	124349935	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr8:124349935C>A	ENST00000287394.5	-	21	3088	c.2981G>T	c.(2980-2982)aGa>aTa	p.R994I	ATAD2_ENST00000521903.1_Missense_Mutation_p.R312I	NM_014109.3	NP_054828.2	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	994					ATP catabolic process (GO:0006200)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			TGTAACATTTCTTAAGAAAAT	0.398																																							uc003yqh.3		NA																	0				ovary(2)	2						c.(2980-2982)AGA>ATA		ATPase family, AAA domain containing 2							198.0	181.0	187.0					8																	124349935		2203	4300	6503	SO:0001583	missense	29028				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleus	ATP binding|ATPase activity	g.chr8:124349935C>A	BC019909	CCDS6343.1	8q24.13	2014-01-21		2007-02-08	ENSG00000156802	ENSG00000156802		"""ATPases / AAA-type"""	30123	protein-coding gene	gene with protein product		611941				12477932	Standard	NM_014109		Approved	PRO2000, DKFZp667N1320, MGC5254, MGC29843, CT137	uc003yqh.4	Q6PL18	OTTHUMG00000165090	ENST00000287394.5:c.2981G>T	8.37:g.124349935C>A	ENSP00000287394:p.Arg994Ile					ATAD2_uc011lii.1_Missense_Mutation_p.R785I|ATAD2_uc003yqi.3_RNA	p.R994I	NM_014109	NP_054828	Q6PL18	ATAD2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00288)		21	3089	-	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		994			Potential.		Q14CR1|Q658P2|Q68CQ0|Q6PJV6|Q8N890|Q9UHS5	Missense_Mutation	SNP	ENST00000287394.5	37	c.2981G>T	CCDS6343.1	.	.	.	.	.	.	.	.	.	.	C	34	5.354810	0.95854	.	.	ENSG00000156802	ENST00000287394;ENST00000521903	D;D	0.83419	-1.72;-1.72	5.58	5.58	0.84498	Bromodomain (3);	0.103999	0.64402	D	0.000002	D	0.93396	0.7894	M	0.91818	3.245	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.94038	0.7307	10	0.72032	D	0.01	-22.1286	19.9414	0.97163	0.0:1.0:0.0:0.0	.	994	Q6PL18	ATAD2_HUMAN	I	994;312	ENSP00000287394:R994I;ENSP00000429213:R312I	ENSP00000287394:R994I	R	-	2	0	ATAD2	124419116	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.711000	0.84669	2.779000	0.95612	0.650000	0.86243	AGA		0.398	ATAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381766.2	NM_014109		13	37	1	0	0.000151284	0.001855	0.000164489	13	37				
TMEM71	137835	broad.mit.edu	37	8	133734362	133734362	+	Splice_Site	SNP	C	C	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr8:133734362C>T	ENST00000356838.3	-	7	762		c.e7-1		TMEM71_ENST00000523829.1_Splice_Site|TMEM71_ENST00000377901.4_Splice_Site	NM_144649.2	NP_653250.2	Q6P5X7	TMM71_HUMAN	transmembrane protein 71							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)			AACCTGGTTTCTAATAGGAAG	0.353																																							uc003ytp.2		NA																	0				ovary(2)	2						c.e7-1		transmembrane protein 71 isoform 1							90.0	91.0	91.0					8																	133734362		2203	4300	6503	SO:0001630	splice_region_variant	137835					integral to membrane		g.chr8:133734362C>T	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.620-1G>A	8.37:g.133734362C>T						TMEM71_uc003ytm.1_Splice_Site_p.E47_splice|TMEM71_uc003ytn.2_Splice_Site_p.E207_splice|TMEM71_uc003yto.2_Splice_Site_p.E163_splice	p.E225_splice	NM_144649	NP_653250	Q6P5X7	TMM71_HUMAN	BRCA - Breast invasive adenocarcinoma(115;4.46e-05)		7	903	-	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)							Q3KRC2|Q8WVZ4|Q96LX9	Splice_Site	SNP	ENST00000356838.3	37	c.674_splice	CCDS6366.1	.	.	.	.	.	.	.	.	.	.	C	11.58	1.681166	0.29872	.	.	ENSG00000165071	ENST00000522780;ENST00000523829;ENST00000356838;ENST00000377901	.	.	.	5.72	5.72	0.89469	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.731	0.77804	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TMEM71	133803544	0.997000	0.39634	0.853000	0.33588	0.180000	0.23129	2.171000	0.42453	2.857000	0.98124	0.650000	0.86243	.		0.353	TMEM71-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379591.1	NM_144649	Intron	20	53	0	0	0	0.00333	0	20	53				
KHDRBS3	10656	broad.mit.edu	37	8	136554930	136554930	+	Missense_Mutation	SNP	G	G	C			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr8:136554930G>C	ENST00000355849.5	+	3	651	c.241G>C	c.(241-243)Ggc>Cgc	p.G81R	KHDRBS3_ENST00000520981.1_Intron	NM_006558.1	NP_006549.1	O75525	KHDR3_HUMAN	KH domain containing, RNA binding, signal transduction associated 3	81	KH.				regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	26	all_epithelial(106;2.85e-16)|all_neural(2;2.72e-06)|Lung NSC(106;3.95e-06)|all_lung(105;1.11e-05)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.247)			GGGTCCACGTGGCAATTCTCT	0.353																																							uc003yuv.2		NA																	0				ovary(2)	2						c.(241-243)GGC>CGC		KH domain containing, RNA binding, signal							132.0	138.0	136.0					8																	136554930		2203	4300	6503	SO:0001583	missense	10656				regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	SH3 domain binding	g.chr8:136554930G>C	AF069681	CCDS6374.1	8q24.23	2008-05-15			ENSG00000131773	ENSG00000131773			18117	protein-coding gene	gene with protein product		610421				10332027, 10564820	Standard	XR_242372		Approved	T-STAR, Etle, etoile, SALP, SLM2, SLM-2	uc003yuv.3	O75525	OTTHUMG00000164164	ENST00000355849.5:c.241G>C	8.37:g.136554930G>C	ENSP00000348108:p.Gly81Arg					KHDRBS3_uc003yuw.2_Missense_Mutation_p.G81R	p.G81R	NM_006558	NP_006549	O75525	KHDR3_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.247)		3	635	+	all_epithelial(106;2.85e-16)|all_neural(2;2.72e-06)|Lung NSC(106;3.95e-06)|all_lung(105;1.11e-05)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		81			KH.		Q6NUL8|Q9UPA8	Missense_Mutation	SNP	ENST00000355849.5	37	c.241G>C	CCDS6374.1	.	.	.	.	.	.	.	.	.	.	G	29.4	5.004382	0.93287	.	.	ENSG00000131773	ENST00000355849;ENST00000524199;ENST00000517394	D;D;D	0.88046	-2.33;-2.33;-2.33	5.82	5.82	0.92795	K Homology (1);	0.000000	0.85682	D	0.000000	D	0.95993	0.8695	H	0.96048	3.76	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.96821	0.9604	10	0.87932	D	0	-13.2386	19.0775	0.93168	0.0:0.0:1.0:0.0	.	81;81	O75525-2;O75525	.;KHDR3_HUMAN	R	81;53;54	ENSP00000348108:G81R;ENSP00000431022:G53R;ENSP00000430284:G54R	ENSP00000348108:G81R	G	+	1	0	KHDRBS3	136624112	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.848000	0.99507	2.761000	0.94854	0.655000	0.94253	GGC		0.353	KHDRBS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377529.1			21	46	0	0	0	0.005443	0	21	46				
FAM135B	51059	broad.mit.edu	37	8	139144932	139144932	+	Missense_Mutation	SNP	G	G	C			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr8:139144932G>C	ENST00000395297.1	-	20	4295	c.4125C>G	c.(4123-4125)aaC>aaG	p.N1375K		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	1375										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			CGATCAGGGTGTTGGCAGTGT	0.532										HNSCC(54;0.14)																													uc003yuy.2		NA																	0				ovary(7)|skin(2)	9						c.(4123-4125)AAC>AAG		hypothetical protein LOC51059							207.0	217.0	214.0					8																	139144932		1970	4158	6128	SO:0001583	missense	51059							g.chr8:139144932G>C	AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.4125C>G	8.37:g.139144932G>C	ENSP00000378710:p.Asn1375Lys	HNSCC(54;0.14)				FAM135B_uc003yux.2_Missense_Mutation_p.N1276K|FAM135B_uc003yuz.2_RNA	p.N1375K	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0805)		20	4296	-	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		1375					B5MDB3|O95879|Q2WGJ7|Q3KP46	Missense_Mutation	SNP	ENST00000395297.1	37	c.4125C>G	CCDS6375.2	.	.	.	.	.	.	.	.	.	.	G	21.1	4.095552	0.76870	.	.	ENSG00000147724	ENST00000395297	T	0.16196	2.36	5.74	3.64	0.41730	.	0.000000	0.85682	D	0.000000	T	0.36580	0.0972	M	0.69248	2.105	0.52099	D	0.999941	D	0.76494	0.999	D	0.80764	0.994	T	0.14783	-1.0460	10	0.87932	D	0	-32.5145	10.267	0.43460	0.233:0.0:0.767:0.0	.	1375	Q49AJ0	F135B_HUMAN	K	1375	ENSP00000378710:N1375K	ENSP00000378710:N1375K	N	-	3	2	FAM135B	139214114	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.169000	0.58223	1.454000	0.47793	-0.216000	0.12614	AAC		0.532	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3	NM_015912		50	164	0	0	0	0.00361	0	50	164				
AGO2	27161	broad.mit.edu	37	8	141549469	141549469	+	Missense_Mutation	SNP	C	C	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr8:141549469C>T	ENST00000220592.5	-	16	2231	c.2119G>A	c.(2119-2121)Gtg>Atg	p.V707M	AGO2_ENST00000519980.1_Missense_Mutation_p.V707M	NM_012154.3	NP_036286.2	Q9UKV8	AGO2_HUMAN	argonaute RISC catalytic component 2	707	Piwi. {ECO:0000255|HAMAP-Rule:MF_03031}.				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)|gene silencing by RNA (GO:0031047)|innate immune response (GO:0045087)|mRNA cleavage involved in gene silencing by miRNA (GO:0035279)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|negative regulation of translational initiation (GO:0045947)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|post-embryonic development (GO:0009791)|pre-miRNA processing (GO:0031054)|regulation of transcription, DNA-templated (GO:0006355)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)|micro-ribonucleoprotein complex (GO:0035068)|mRNA cap binding complex (GO:0005845)|nucleus (GO:0005634)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)|RISC complex (GO:0016442)	endoribonuclease activity (GO:0004521)|endoribonuclease activity, cleaving siRNA-paired mRNA (GO:0070551)|metal ion binding (GO:0046872)|miRNA binding (GO:0035198)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA 7-methylguanosine cap binding (GO:0000340)|siRNA binding (GO:0035197)|translation initiation factor activity (GO:0003743)										CTCTTCTGCACCACGATGAAG	0.597																																							uc003yvn.2		NA																	0					0						c.(2119-2121)GTG>ATG		argonaute 2 isoform 1							93.0	85.0	88.0					8																	141549469		2203	4300	6503	SO:0001583	missense	27161				mRNA cleavage involved in gene silencing by miRNA|negative regulation of translation involved in gene silencing by miRNA|negative regulation of translational initiation|pre-miRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|micro-ribonucleoprotein complex|mRNA cap binding complex|nucleus|polysome|RNA-induced silencing complex	endoribonuclease activity, cleaving siRNA-paired mRNA|metal ion binding|protein binding|RNA 7-methylguanosine cap binding|siRNA binding|translation initiation factor activity	g.chr8:141549469C>T	AF121255	CCDS6380.1, CCDS55279.1	8q24.3	2013-02-15	2013-02-15	2013-02-15	ENSG00000123908	ENSG00000123908		"""Argonaute/PIWI family"""	3263	protein-coding gene	gene with protein product	"""argonaute 2"""	606229	"""eukaryotic translation initiation factor 2C, 2"""	EIF2C2		10534406, 12906857	Standard	NM_012154		Approved	hAGO2, Q10	uc003yvn.3	Q9UKV8	OTTHUMG00000164232	ENST00000220592.5:c.2119G>A	8.37:g.141549469C>T	ENSP00000220592:p.Val707Met					EIF2C2_uc010men.2_Missense_Mutation_p.V630M|EIF2C2_uc010meo.2_Missense_Mutation_p.V707M	p.V707M	NM_012154	NP_036286	Q9UKV8	AGO2_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.158)		16	2159	-	all_cancers(97;2.54e-14)|all_epithelial(106;5.99e-13)|Lung NSC(106;1.45e-05)|all_lung(105;2.07e-05)|Ovarian(258;0.0154)|Acute lymphoblastic leukemia(118;0.155)	Breast(495;0.159)	707			Piwi.		Q8TCZ5|Q8WV58|Q96ID1	Missense_Mutation	SNP	ENST00000220592.5	37	c.2119G>A	CCDS6380.1	.	.	.	.	.	.	.	.	.	.	C	28.0	4.879324	0.91740	.	.	ENSG00000123908	ENST00000220592;ENST00000519980	T;T	0.37411	1.2;1.2	4.88	4.88	0.63580	Stem cell self-renewal protein Piwi (3);Ribonuclease H-like (1);	0.000000	0.85682	D	0.000000	T	0.77631	0.4159	H	0.99336	4.52	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	D	0.88168	0.2862	10	0.87932	D	0	-50.785	18.3989	0.90509	0.0:1.0:0.0:0.0	.	707;707	Q9UKV8-2;Q9UKV8	.;AGO2_HUMAN	M	707	ENSP00000220592:V707M;ENSP00000430176:V707M	ENSP00000220592:V707M	V	-	1	0	EIF2C2	141618651	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.755000	0.85180	2.401000	0.81631	0.655000	0.94253	GTG		0.597	AGO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377866.4			13	43	0	0	0	0.001368	0	13	43				
PSCA	8000	broad.mit.edu	37	8	143763484	143763484	+	Silent	SNP	G	G	T	rs373596962		TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr8:143763484G>T	ENST00000301258.4	+	3	362	c.279G>T	c.(277-279)ccG>ccT	p.P93P		NM_005672.4	NP_005663.2	O43653	PSCA_HUMAN	prostate stem cell antigen	102	UPAR/Ly6.					anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)				endometrium(1)|large_intestine(1)	2	all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					CCCTGCAGCCGGCTGCTGCCA	0.662																																							uc003ywu.2		NA																	0					0						c.(304-306)CCG>CCT		prostate stem cell antigen preproprotein							30.0	35.0	34.0					8																	143763484		2160	4266	6426	SO:0001819	synonymous_variant	8000							g.chr8:143763484G>T	AF043498	CCDS47925.1, CCDS47925.2	8q24.2	2004-02-03				ENSG00000167653			9500	protein-coding gene	gene with protein product		602470				9465086	Standard	NM_005672		Approved		uc022bcd.1	O43653		ENST00000301258.4:c.279G>T	8.37:g.143763484G>T						uc003ywt.1_5'Flank	p.P102P	NM_005672	NP_005663	O43653	PSCA_HUMAN			3	361	+	all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)		93					Q6UW92	Silent	SNP	ENST00000301258.4	37	c.306G>T	CCDS47925.2																																																																																				0.662	PSCA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367112.2	NM_005672		14	27	1	0	2.4624e-09	0.008871	2.99344e-09	14	27				
SCRIB	23513	broad.mit.edu	37	8	144895510	144895510	+	Missense_Mutation	SNP	C	C	G			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr8:144895510C>G	ENST00000320476.3	-	6	544	c.538G>C	c.(538-540)Gat>Cat	p.D180H	SCRIB_ENST00000356994.2_Missense_Mutation_p.D180H|SCRIB_ENST00000377533.3_Missense_Mutation_p.D99H|MIR937_ENST00000401271.1_RNA	NM_015356.4	NP_056171	Q14160	SCRIB_HUMAN	scribbled planar cell polarity protein	180	Sufficient for targeting to adherens junction and to inhibit cell proliferation.				activation of Rac GTPase activity (GO:0032863)|apoptotic process involved in morphogenesis (GO:0060561)|astrocyte cell migration (GO:0043615)|asymmetric protein localization (GO:0008105)|auditory receptor cell stereocilium organization (GO:0060088)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cochlear nucleus development (GO:0021747)|establishment of apical/basal cell polarity (GO:0035089)|mammary gland duct morphogenesis (GO:0060603)|negative regulation of mitotic cell cycle (GO:0045930)|neural tube closure (GO:0001843)|positive chemotaxis (GO:0050918)|positive regulation of apoptotic process (GO:0043065)|positive regulation of receptor recycling (GO:0001921)|protein localization to adherens junction (GO:0071896)|single organismal cell-cell adhesion (GO:0016337)|synaptic vesicle endocytosis (GO:0048488)|synaptic vesicle targeting (GO:0016080)|viral process (GO:0016032)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cell projection (GO:0042995)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|myelin sheath abaxonal region (GO:0035748)|plasma membrane (GO:0005886)|Scrib-APC-beta-catenin complex (GO:0034750)				NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-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;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			CCTCCCAGATCCAGCTGTTCC	0.652																																					Pancreas(51;966 1133 10533 14576 29674)	Pancreas(51;966 1133 10533 14576 29674)	uc003yzp.1		NA																	0				urinary_tract(1)|ovary(1)|kidney(1)|central_nervous_system(1)|pancreas(1)	5						c.(538-540)GAT>CAT		scribble isoform b							80.0	79.0	79.0					8																	144895510		2203	4300	6503	SO:0001583	missense	23513				activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction	cell-cell adherens junction|Scrib-APC-beta-catenin complex	protein binding	g.chr8:144895510C>G	AY062238	CCDS6411.1, CCDS6412.1	8q24.3	2013-03-05	2013-03-05		ENSG00000180900	ENSG00000180900			30377	protein-coding gene	gene with protein product		607733	"""scribbled homolog (Drosophila)"""			11027293, 14681682	Standard	NM_182706		Approved	KIAA0147, SCRB1, Vartul	uc003yzo.1	Q14160	OTTHUMG00000165154	ENST00000320476.3:c.538G>C	8.37:g.144895510C>G	ENSP00000322938:p.Asp180His					SCRIB_uc003yzo.1_Missense_Mutation_p.D180H|MIR937_hsa-mir-937|MI0005759_5'Flank	p.D180H	NM_015356	NP_056171	Q14160	SCRIB_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)		6	545	-	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		180			LRR 7.|Sufficient for targeting to adherens junction and to inhibit cell proliferation.		Q6P496|Q7Z5D1|Q8WWV8|Q96C69|Q96GG1	Missense_Mutation	SNP	ENST00000320476.3	37	c.538G>C	CCDS6411.1	.	.	.	.	.	.	.	.	.	.	C	29.7	5.024358	0.93462	.	.	ENSG00000180900	ENST00000356994;ENST00000320476;ENST00000377533	T;T;T	0.11604	2.76;2.76;2.76	4.28	4.28	0.50868	.	.	.	.	.	T	0.31827	0.0809	M	0.66560	2.04	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.09662	-1.0664	9	0.87932	D	0	.	16.0607	0.80836	0.0:1.0:0.0:0.0	.	180;180	Q14160;Q14160-3	SCRIB_HUMAN;.	H	180;180;99	ENSP00000349486:D180H;ENSP00000322938:D180H;ENSP00000366756:D99H	ENSP00000322938:D180H	D	-	1	0	SCRIB	144967498	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.455000	0.60075	2.069000	0.61940	0.563000	0.77884	GAT		0.652	SCRIB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000382215.1	NM_015356		19	59	0	0	0	0.004656	0	19	59				
DMRT1	1761	broad.mit.edu	37	9	968083	968083	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr9:968083C>A	ENST00000382276.3	+	5	1215	c.1066C>A	c.(1066-1068)Cct>Act	p.P356T	DMRT1_ENST00000569227.1_Missense_Mutation_p.P198T	NM_021951.2	NP_068770.2	Q9Y5R6	DMRT1_HUMAN	doublesex and mab-3 related transcription factor 1	356					cell morphogenesis (GO:0000902)|germ cell migration (GO:0008354)|intracellular signal transduction (GO:0035556)|male germ cell proliferation (GO:0002176)|male sex determination (GO:0030238)|male sex differentiation (GO:0046661)|negative regulation of meiosis (GO:0045835)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|oocyte development (GO:0048599)|positive regulation of male gonad development (GO:2000020)|positive regulation of meiosis I (GO:0060903)|positive regulation of mitosis (GO:0045840)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of nodal signaling pathway (GO:1900107)|Sertoli cell development (GO:0060009)|Sertoli cell differentiation (GO:0060008)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(2)|lung(10)|ovary(1)	13		all_lung(10;2.66e-10)|Lung NSC(10;2.82e-10)|Breast(48;0.232)		Lung(218;0.037)		TGAATGTGAGCCTGCGTCGGA	0.557																																							uc003zgv.2		NA																	0				ovary(1)	1						c.(1066-1068)CCT>ACT		doublesex and mab-3 related transcription factor							65.0	56.0	59.0					9																	968083		2203	4300	6503	SO:0001583	missense	1761				cell differentiation|male gonad development|sex determination	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity	g.chr9:968083C>A	AF130728	CCDS6442.1	9p24.3	2014-01-21			ENSG00000137090	ENSG00000137090			2934	protein-coding gene	gene with protein product	"""DM domain expressed in testis 1"""	602424				9490411, 10332030	Standard	XM_006716732		Approved	DMT1, CT154	uc003zgv.3	Q9Y5R6	OTTHUMG00000019435	ENST00000382276.3:c.1066C>A	9.37:g.968083C>A	ENSP00000371711:p.Pro356Thr						p.P356T	NM_021951	NP_068770	Q9Y5R6	DMRT1_HUMAN		Lung(218;0.037)	5	1215	+		all_lung(10;2.66e-10)|Lung NSC(10;2.82e-10)|Breast(48;0.232)	356					B2R913|Q6T1H8|Q6T1H9|Q8IW77	Missense_Mutation	SNP	ENST00000382276.3	37	c.1066C>A	CCDS6442.1	.	.	.	.	.	.	.	.	.	.	C	9.536	1.112219	0.20795	.	.	ENSG00000137090	ENST00000382276	T	0.17370	2.28	5.68	-1.2	0.09554	.	0.844651	0.11154	N	0.593764	T	0.10035	0.0246	N	0.22421	0.69	0.21020	N	0.999802	B	0.17038	0.02	B	0.16722	0.016	T	0.31503	-0.9941	10	0.39692	T	0.17	.	6.2822	0.21013	0.0:0.3579:0.2452:0.397	.	356	Q9Y5R6	DMRT1_HUMAN	T	356	ENSP00000371711:P356T	ENSP00000371711:P356T	P	+	1	0	DMRT1	958083	0.294000	0.24380	0.962000	0.40283	0.917000	0.54804	-0.108000	0.10857	-0.458000	0.07023	-0.768000	0.03414	CCT		0.557	DMRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051489.2	NM_021951		27	55	1	0	1.08312e-15	0.009535	1.46694e-15	27	55				
DMRT3	58524	broad.mit.edu	37	9	990658	990658	+	Missense_Mutation	SNP	C	C	G			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr9:990658C>G	ENST00000190165.2	+	2	1110	c.1072C>G	c.(1072-1074)Ctg>Gtg	p.L358V		NM_021240.2	NP_067063.1	Q9NQL9	DMRT3_HUMAN	doublesex and mab-3 related transcription factor 3	358					adult walking behavior (GO:0007628)|male sex differentiation (GO:0046661)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|sex differentiation (GO:0007548)|transcription, DNA-templated (GO:0006351)|transmission of nerve impulse (GO:0019226)|ventral spinal cord interneuron specification (GO:0021521)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08)		Lung(218;0.0196)		GGCTGGGCCTCTGCAGCCCCC	0.582																																							uc003zgw.1		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(1072-1074)CTG>GTG		doublesex and mab-3 related transcription factor							68.0	65.0	66.0					9																	990658		2203	4300	6503	SO:0001583	missense	58524				cell differentiation|multicellular organismal development|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity	g.chr9:990658C>G	AJ301581	CCDS6443.1	9p24.3	2008-07-21	2001-12-17	2001-12-07	ENSG00000064218	ENSG00000064218			13909	protein-coding gene	gene with protein product	"""testis-specific protein"""	614754	"""DMRT-like family A3"""	DMRTA3		11543627, 10729223	Standard	NM_021240		Approved		uc003zgw.2	Q9NQL9	OTTHUMG00000019436	ENST00000190165.2:c.1072C>G	9.37:g.990658C>G	ENSP00000190165:p.Leu358Val						p.L358V	NM_021240	NP_067063	Q9NQL9	DMRT3_HUMAN		Lung(218;0.0196)	2	1110	+		all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08)	358					Q7LA03|Q7LCH8|Q96SC7|Q9NRQ9	Missense_Mutation	SNP	ENST00000190165.2	37	c.1072C>G	CCDS6443.1	.	.	.	.	.	.	.	.	.	.	C	13.70	2.315283	0.40996	.	.	ENSG00000064218	ENST00000190165	T	0.27402	1.67	4.95	3.93	0.45458	.	0.252326	0.28119	N	0.016539	T	0.15652	0.0377	L	0.29908	0.895	0.39193	D	0.963007	P	0.38020	0.615	B	0.29267	0.1	T	0.08351	-1.0726	10	0.52906	T	0.07	-25.2297	3.185	0.06598	0.0:0.5899:0.0:0.4101	.	358	Q9NQL9	DMRT3_HUMAN	V	358	ENSP00000190165:L358V	ENSP00000190165:L358V	L	+	1	2	DMRT3	980658	0.977000	0.34250	0.996000	0.52242	0.881000	0.50899	0.977000	0.29475	2.308000	0.77769	0.561000	0.74099	CTG		0.582	DMRT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051490.1	NM_021240		29	21	0	0	0	0.002445	0	29	21				
RCL1	10171	broad.mit.edu	37	9	4844632	4844632	+	Missense_Mutation	SNP	A	A	C			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr9:4844632A>C	ENST00000381750.4	+	7	1041	c.818A>C	c.(817-819)gAg>gCg	p.E273A	RCL1_ENST00000448872.2_Missense_Mutation_p.E87A|RCL1_ENST00000381730.1_Missense_Mutation_p.E87A|RCL1_ENST00000381728.1_Missense_Mutation_p.E87A	NM_005772.3	NP_005763.3	Q9Y2P8	RCL1_HUMAN	RNA terminal phosphate cyclase-like 1	273					ribosome biogenesis (GO:0042254)|RNA processing (GO:0006396)	nucleolus (GO:0005730)	catalytic activity (GO:0003824)			breast(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	9	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0206)|Breast(48;0.147)		GBM - Glioblastoma multiforme(50;0.0244)		GTACTTCCAGAGGACCTTGGC	0.572																																							uc003zis.2		NA																	0					0						c.(817-819)GAG>GCG		RNA terminal phosphate cyclase-like 1							95.0	93.0	93.0					9																	4844632		2203	4300	6503	SO:0001583	missense	10171				ribosome biogenesis|RNA processing	nucleolus	RNA-3'-phosphate cyclase activity	g.chr9:4844632A>C	AJ276894	CCDS6456.1, CCDS69565.1, CCDS75810.1	9p24.1-p23	2008-02-05			ENSG00000120158	ENSG00000120158			17687	protein-coding gene	gene with protein product		611405					Standard	NM_001286701		Approved	RPCL1, RNAC	uc003zis.2	Q9Y2P8	OTTHUMG00000019474	ENST00000381750.4:c.818A>C	9.37:g.4844632A>C	ENSP00000371169:p.Glu273Ala					RCL1_uc003zit.2_Missense_Mutation_p.E115A|RCL1_uc010mhk.1_Missense_Mutation_p.E115A|RCL1_uc010mhl.1_Missense_Mutation_p.E87A	p.E273A	NM_005772	NP_005763	Q9Y2P8	RCL1_HUMAN		GBM - Glioblastoma multiforme(50;0.0244)	7	1076	+	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0206)|Breast(48;0.147)	273					D3DRI2|Q5VYW9|Q5VZU1|Q9H9D0|Q9NY00|Q9P044	Missense_Mutation	SNP	ENST00000381750.4	37	c.818A>C	CCDS6456.1	.	.	.	.	.	.	.	.	.	.	A	31	5.074562	0.94000	.	.	ENSG00000120158	ENST00000381750;ENST00000442869;ENST00000381730;ENST00000381728;ENST00000448872;ENST00000441844	.	.	.	6.17	6.17	0.99709	-terminal phosphate cyclase, insert domain (1);-terminal phosphate cyclase-like, eukaryotic (2);-terminal phosphate cyclase domain (1);RNA 3&apos (5);-terminal phosphate cyclase (1);	0.114975	0.64402	D	0.000008	D	0.87188	0.6115	H	0.94503	3.545	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.91635	0.995;0.999	D	0.90497	0.4471	9	0.87932	D	0	-35.9463	16.8222	0.85835	1.0:0.0:0.0:0.0	.	87;273	Q5VZU1;Q9Y2P8	.;RCL1_HUMAN	A	273;115;87;87;87;87	.	ENSP00000371147:E87A	E	+	2	0	RCL1	4834632	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	9.339000	0.96797	2.371000	0.80710	0.533000	0.62120	GAG		0.572	RCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051587.1	NM_005772		49	142	0	0	0	0.00361	0	49	142				
JAK2	3717	broad.mit.edu	37	9	5029897	5029897	+	Missense_Mutation	SNP	A	A	G			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr9:5029897A>G	ENST00000381652.3	+	4	835	c.341A>G	c.(340-342)tAc>tGc	p.Y114C	JAK2_ENST00000539801.1_Missense_Mutation_p.Y114C	NM_004972.3	NP_004963.1	O60674	JAK2_HUMAN	Janus kinase 2	114	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.|Interaction with cytokine/interferon/growth hormone receptors. {ECO:0000250}.				actin filament polymerization (GO:0030041)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097296)|activation of JAK2 kinase activity (GO:0042977)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|axon regeneration (GO:0031103)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cellular component movement (GO:0006928)|cytokine-mediated signaling pathway (GO:0019221)|enzyme linked receptor protein signaling pathway (GO:0007167)|erythrocyte differentiation (GO:0030218)|extrinsic apoptotic signaling pathway (GO:0097191)|G-protein coupled receptor signaling pathway (GO:0007186)|growth hormone receptor signaling pathway (GO:0060396)|histone H3-Y41 phosphorylation (GO:0035409)|hormone-mediated signaling pathway (GO:0009755)|host programmed cell death induced by symbiont (GO:0034050)|interferon-gamma-mediated signaling pathway (GO:0060333)|interleukin-12-mediated signaling pathway (GO:0035722)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|mammary gland epithelium development (GO:0061180)|mesoderm development (GO:0007498)|mineralocorticoid receptor signaling pathway (GO:0031959)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of DNA binding (GO:0043392)|negative regulation of heart contraction (GO:0045822)|negative regulation of neuron apoptotic process (GO:0043524)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell activation (GO:0050867)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of DNA binding (GO:0043388)|positive regulation of growth hormone receptor signaling pathway (GO:0060399)|positive regulation of inflammatory response (GO:0050729)|positive regulation of insulin secretion (GO:0032024)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of inflammatory response (GO:0050727)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|response to antibiotic (GO:0046677)|response to hydroperoxide (GO:0033194)|response to interleukin-12 (GO:0070671)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)|signal transduction (GO:0007165)|STAT protein import into nucleus (GO:0007262)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|tyrosine phosphorylation of STAT protein (GO:0007260)|tyrosine phosphorylation of Stat1 protein (GO:0042508)|tyrosine phosphorylation of Stat3 protein (GO:0042503)|tyrosine phosphorylation of Stat5 protein (GO:0042506)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endosome lumen (GO:0031904)|membrane raft (GO:0045121)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|heme binding (GO:0020037)|histone binding (GO:0042393)|histone kinase activity (H3-Y41 specific) (GO:0035401)|interleukin-12 receptor binding (GO:0005143)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein tyrosine kinase activity (GO:0004713)|receptor binding (GO:0005102)|SH2 domain binding (GO:0042169)		BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)|ETV6/JAK2(11)|PCM1/JAK2(30)|PAX5/JAK2(18)	breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(32944)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(4)|skin(2)|urinary_tract(1)	32998	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147)		GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133)	Ruxolitinib(DB08877)|Tofacitinib(DB08895)	AATGTACTCTACAGAATAAGG	0.328		1	"""T, Mis, O"""	"""ETV6, PCM1, BCR"""	"""ALL, AML, MPD,  CML"""				Polycythemia Vera, Familial																														uc010mhm.2		1		Dom	yes		9	9p24	3717	T|Mis|O	Janus kinase 2			L	ETV6|PCM1|BCR		ALL|AML|MPD| CML	PCM1/JAK2(30)|PAX5/JAK2(18)|ETV6/JAK2(11)|BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)	0				haematopoietic_and_lymphoid_tissue(28629)|lung(5)|breast(5)|ovary(1)|liver(1)	28641						c.(340-342)TAC>TGC		Janus kinase 2							150.0	150.0	150.0					9																	5029897		2203	4300	6503	SO:0001583	missense	3717	Polycythemia_Vera_Familial	Familial Cancer Database		actin filament polymerization|activation of caspase activity by protein phosphorylation|activation of JAK2 kinase activity|blood coagulation|cellular component movement|erythrocyte differentiation|interferon-gamma-mediated signaling pathway|interleukin-12-mediated signaling pathway|JAK-STAT cascade involved in growth hormone signaling pathway|mammary gland epithelium development|mesoderm development|negative regulation of cell proliferation|negative regulation of DNA binding|positive regulation of apoptosis|positive regulation of cell-substrate adhesion|positive regulation of growth hormone receptor signaling pathway|positive regulation of nitric-oxide synthase 2 biosynthetic process|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|protein autophosphorylation|regulation of inflammatory response|regulation of interferon-gamma-mediated signaling pathway|response to antibiotic|response to lipopolysaccharide|STAT protein import into nucleus|tumor necrosis factor-mediated signaling pathway|tyrosine phosphorylation of STAT protein	caveola|cytoskeleton|cytosol|endomembrane system|nucleus	ATP binding|growth hormone receptor binding|heme binding|histone binding|histone kinase activity (H3-Y41 specific)|interleukin-12 receptor binding|non-membrane spanning protein tyrosine kinase activity|protein kinase binding|SH2 domain binding	g.chr9:5029897A>G		CCDS6457.1	9p24	2014-09-17	2009-04-23		ENSG00000096968	ENSG00000096968	2.7.10.1	"""SH2 domain containing"""	6192	protein-coding gene	gene with protein product		147796				1848670	Standard	NM_004972		Approved	JTK10	uc003ziw.3	O60674	OTTHUMG00000019490	ENST00000381652.3:c.341A>G	9.37:g.5029897A>G	ENSP00000371067:p.Tyr114Cys					JAK2_uc003ziw.2_Missense_Mutation_p.Y114C	p.Y114C	NM_004972	NP_004963	O60674	JAK2_HUMAN		GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133)	3	454	+	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147)	114			Interaction with cytokine/interferon/growth hormone receptors (By similarity).|FERM.		O14636|O75297	Missense_Mutation	SNP	ENST00000381652.3	37	c.341A>G	CCDS6457.1	.	.	.	.	.	.	.	.	.	.	A	17.17	3.321210	0.60634	.	.	ENSG00000096968	ENST00000539801;ENST00000381652	T;T	0.63417	-0.04;-0.04	6.01	4.86	0.63082	Band 4.1 domain (1);FERM domain (1);	0.052628	0.85682	D	0.000000	T	0.68915	0.3053	L	0.59436	1.845	0.80722	D	1	D	0.71674	0.998	P	0.58077	0.832	T	0.70714	-0.4796	10	0.87932	D	0	-9.8072	8.5944	0.33707	0.7355:0.1354:0.0:0.1291	.	114	O60674	JAK2_HUMAN	C	114	ENSP00000440387:Y114C;ENSP00000371067:Y114C	ENSP00000371067:Y114C	Y	+	2	0	JAK2	5019897	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.823000	0.55715	1.081000	0.41110	-0.321000	0.08615	TAC		0.328	JAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051609.1			24	157	0	0	0	0.002096	0	24	157				
KDM4C	23081	broad.mit.edu	37	9	6888033	6888033	+	Silent	SNP	A	A	G			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr9:6888033A>G	ENST00000381309.3	+	7	1318	c.753A>G	c.(751-753)gtA>gtG	p.V251V	KDM4C_ENST00000536108.1_Silent_p.V70V|KDM4C_ENST00000535193.1_Silent_p.V273V|KDM4C_ENST00000489243.1_3'UTR|KDM4C_ENST00000381306.3_Silent_p.V251V|KDM4C_ENST00000543771.1_Silent_p.V251V|KDM4C_ENST00000442236.2_Silent_p.V70V	NM_015061.3	NP_055876.2	Q9H3R0	KDM4C_HUMAN	lysine (K)-specific demethylase 4C	251	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				histone H3-K9 demethylation (GO:0033169)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)	androgen receptor binding (GO:0050681)|dioxygenase activity (GO:0051213)|enzyme binding (GO:0019899)|histone demethylase activity (H3-K9 specific) (GO:0032454)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43						CTCCATCAGTATTGAAGAAAT	0.333																																							uc003zkh.2		NA																	0				ovary(1)	1						c.(751-753)GTA>GTG		jumonji domain containing 2C isoform 1							149.0	140.0	143.0					9																	6888033		2203	4300	6503	SO:0001819	synonymous_variant	23081				positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	nuclear chromatin	androgen receptor binding|enzyme binding|histone demethylase activity (H3-K9 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding	g.chr9:6888033A>G	AB018323	CCDS6471.1, CCDS55285.1, CCDS55286.1, CCDS55287.1	9p24-p23	2013-01-23	2009-04-06	2009-04-06	ENSG00000107077	ENSG00000107077		"""Chromatin-modifying enzymes / K-demethylases"", ""Tudor domain containing"""	17071	protein-coding gene	gene with protein product	"""tudor domain containing 14C"""	605469	"""jumonji domain containing 2C"""	JMJD2C		9872452, 15138608	Standard	NM_015061		Approved	GASC1, KIAA0780, TDRD14C	uc003zkh.3	Q9H3R0	OTTHUMG00000019536	ENST00000381309.3:c.753A>G	9.37:g.6888033A>G						KDM4C_uc010mhu.2_Silent_p.V273V|KDM4C_uc010mhw.2_Silent_p.V251V|KDM4C_uc011lmi.1_Silent_p.V251V|KDM4C_uc011lmj.1_RNA|KDM4C_uc003zkg.2_Silent_p.V251V|KDM4C_uc011lmk.1_Silent_p.V70V	p.V251V	NM_015061	NP_055876	Q9H3R0	KDM4C_HUMAN			7	1333	+			251			JmjC.		B4E1Y4|B7ZL46|F5H347|F5H7P0|O94877|Q2M3M0|Q5JUC9|Q5VYJ2|Q5VYJ3	Silent	SNP	ENST00000381309.3	37	c.753A>G	CCDS6471.1																																																																																				0.333	KDM4C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051692.1	NM_015061		93	50	0	0	0	0.00361	0	93	50				
DDX58	23586	broad.mit.edu	37	9	32480281	32480281	+	Silent	SNP	G	G	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr9:32480281G>A	ENST00000379883.2	-	12	1867	c.1710C>T	c.(1708-1710)ttC>ttT	p.F570F	DDX58_ENST00000379882.1_Silent_p.F525F|DDX58_ENST00000379868.1_Silent_p.F367F|DDX58_ENST00000542096.1_Silent_p.F499F|DDX58_ENST00000545044.1_Silent_p.F367F	NM_014314.3	NP_055129.2	O95786	DDX58_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 58	570	Interaction with ZC3HAV1.				cytoplasmic pattern recognition receptor signaling pathway in response to virus (GO:0039528)|detection of virus (GO:0009597)|innate immune response (GO:0045087)|negative regulation of type I interferon production (GO:0032480)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell migration (GO:0030334)|regulation of type III interferon production (GO:0034344)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)|RIG-I signaling pathway (GO:0039529)|viral process (GO:0016032)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	ATP binding (GO:0005524)|double-stranded DNA binding (GO:0003690)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|identical protein binding (GO:0042802)|single-stranded RNA binding (GO:0003727)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27			LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;0.00056)		CATTGCTGAAGAAGTCTTTCA	0.413																																							uc003zra.2		NA																	0				ovary(2)|liver(1)|pancreas(1)	4						c.(1708-1710)TTC>TTT		DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide							149.0	130.0	137.0					9																	32480281		2203	4300	6503	SO:0001819	synonymous_variant	23586				detection of virus|innate immune response|negative regulation of type I interferon production|positive regulation of defense response to virus by host|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter	cytosol	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|protein binding|zinc ion binding	g.chr9:32480281G>A	AF038963	CCDS6526.1	9p12	2011-08-05			ENSG00000107201	ENSG00000107201		"""DEAD-boxes"""	19102	protein-coding gene	gene with protein product	"""RNA helicase RIG-I"", ""retinoic acid inducible gene I"""	609631				21690088	Standard	NM_014314		Approved	RIG-I, FLJ13599, DKFZp434J1111	uc003zra.3	O95786	OTTHUMG00000019746	ENST00000379883.2:c.1710C>T	9.37:g.32480281G>A						DDX58_uc010mjj.2_RNA|DDX58_uc010mjk.1_Silent_p.F525F|DDX58_uc011lnr.1_Silent_p.F367F|DDX58_uc010mji.2_Silent_p.F499F	p.F570F	NM_014314	NP_055129	O95786	DDX58_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;0.00056)	12	1868	-			570					A2RU81|Q5HYE1|Q5VYT1|Q9NT04	Silent	SNP	ENST00000379883.2	37	c.1710C>T	CCDS6526.1																																																																																				0.413	DDX58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052011.1	NM_014314		13	113	0	0	0	0.004007	0	13	113				
TAF1L	138474	broad.mit.edu	37	9	32630650	32630650	+	Missense_Mutation	SNP	G	G	C			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr9:32630650G>C	ENST00000242310.4	-	1	5017	c.4928C>G	c.(4927-4929)gCa>gGa	p.A1643G	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	1643					DNA-templated transcription, initiation (GO:0006352)|histone acetylation (GO:0016573)|male meiosis (GO:0007140)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|protein serine/threonine kinase activity (GO:0004674)|TBP-class protein binding (GO:0017025)			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		CTCCAAAGCTGCTTCTTTAGC	0.443																																							uc003zrg.1		NA																	0				lung(8)|skin(6)|central_nervous_system(4)|large_intestine(3)|ovary(2)|stomach(1)|breast(1)|pancreas(1)	26						c.(4927-4929)GCA>GGA		TBP-associated factor RNA polymerase 1-like							158.0	157.0	157.0					9																	32630650		2203	4300	6503	SO:0001583	missense	138474				male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding	g.chr9:32630650G>C	AF390562	CCDS35003.1	9p12	2007-07-27	2007-07-27		ENSG00000122728	ENSG00000122728			18056	protein-coding gene	gene with protein product		607798	"""TAF1-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa"""			12217962	Standard	NM_153809		Approved		uc003zrg.1	Q8IZX4	OTTHUMG00000019747	ENST00000242310.4:c.4928C>G	9.37:g.32630650G>C	ENSP00000418379:p.Ala1643Gly					uc003zrh.1_5'Flank	p.A1643G	NM_153809	NP_722516	Q8IZX4	TAF1L_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)	1	5018	-			1643					Q0VG57	Missense_Mutation	SNP	ENST00000242310.4	37	c.4928C>G	CCDS35003.1	.	.	.	.	.	.	.	.	.	.	G	14.20	2.463173	0.43736	.	.	ENSG00000122728	ENST00000242310	T	0.09255	3.0	0.479	0.479	0.16796	.	0.000000	0.85682	D	0.000000	T	0.17619	0.0423	M	0.64997	1.995	0.50632	D	0.999887	P	0.46912	0.886	P	0.55303	0.773	T	0.03166	-1.1065	10	0.32370	T	0.25	.	6.6915	0.23174	2.0E-4:0.0:0.9998:0.0	.	1643	Q8IZX4	TAF1L_HUMAN	G	1643	ENSP00000418379:A1643G	ENSP00000418379:A1643G	A	-	2	0	TAF1L	32620650	1.000000	0.71417	0.992000	0.48379	0.732000	0.41865	5.864000	0.69575	0.507000	0.28148	0.195000	0.17529	GCA		0.443	TAF1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052012.2			116	38	0	0	0	0.00361	0	116	38				
NOL6	65083	broad.mit.edu	37	9	33465774	33465774	+	Missense_Mutation	SNP	C	C	G			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr9:33465774C>G	ENST00000379471.2	-	19	2573	c.2486G>C	c.(2485-2487)aGa>aCa	p.R829T	NOL6_ENST00000455041.2_Missense_Mutation_p.R777T|NOL6_ENST00000464829.1_Intron			Q9H6R4	NOL6_HUMAN	nucleolar protein 6 (RNA-associated)	829					rRNA processing (GO:0006364)	condensed nuclear chromosome (GO:0000794)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(4)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|skin(2)	27			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.152)		CCTTGTGTCTCTCTCAAGGCG	0.632																																							uc003zsz.2		NA																	0				ovary(2)	2						c.(2485-2487)AGA>ACA		nucleolar protein family 6 alpha isoform							70.0	56.0	60.0					9																	33465774		2203	4300	6503	SO:0001583	missense	65083				rRNA processing	condensed nuclear chromosome|nucleolus	RNA binding	g.chr9:33465774C>G	AF361079	CCDS6543.1, CCDS6544.1	9p12	2013-02-22	2013-02-22		ENSG00000165271	ENSG00000165271			19910	protein-coding gene	gene with protein product		611532	"""nucleolar protein family 6 (RNA-associated)"""			11895476, 15590835	Standard	NM_022917		Approved	bA311H10.1, Nrap, FLJ21959, MGC14896, MGC14921, MGC20838, UTP22	uc003zsz.3	Q9H6R4	OTTHUMG00000000394	ENST00000379471.2:c.2486G>C	9.37:g.33465774C>G	ENSP00000368784:p.Arg829Thr					SUGT1P1_uc010mjq.1_Intron|NOL6_uc003zsy.2_5'Flank|NOL6_uc003zta.2_Intron|NOL6_uc010mjv.2_Missense_Mutation_p.R826T|NOL6_uc011lob.1_Missense_Mutation_p.R777T|NOL6_uc003ztb.1_Missense_Mutation_p.R829T	p.R829T	NM_022917	NP_075068	Q9H6R4	NOL6_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.152)	19	2587	-			829					Q5T5M3|Q5T5M4|Q7L4G6|Q8N6I0|Q8TEY9|Q8TEZ0|Q8TEZ1|Q9H675	Missense_Mutation	SNP	ENST00000379471.2	37	c.2486G>C		.	.	.	.	.	.	.	.	.	.	C	15.31	2.795934	0.50208	.	.	ENSG00000165271	ENST00000297990;ENST00000379471;ENST00000541373;ENST00000325914;ENST00000455041	T;T;T	0.48201	0.82;0.82;0.82	5.94	3.88	0.44766	.	0.209115	0.50627	D	0.000106	T	0.43322	0.1242	M	0.67397	2.05	0.40914	D	0.984253	B;B;B;B	0.24317	0.101;0.082;0.082;0.101	B;B;B;B	0.26770	0.073;0.048;0.044;0.073	T	0.43734	-0.9373	10	0.45353	T	0.12	.	6.7219	0.23334	0.3286:0.5762:0.0:0.0952	.	777;826;829;829	B4DF80;Q9H6R4-4;Q9H6R4-2;Q9H6R4	.;.;.;NOL6_HUMAN	T	829;829;385;829;777	ENSP00000297990:R829T;ENSP00000368784:R829T;ENSP00000395915:R777T	ENSP00000297990:R829T	R	-	2	0	NOL6	33455774	1.000000	0.71417	1.000000	0.80357	0.816000	0.46133	5.193000	0.65120	1.384000	0.46424	0.563000	0.77884	AGA		0.632	NOL6-005	NOVEL	non_canonical_TEC|basic	protein_coding	protein_coding	OTTHUMT00000001019.2	NM_022917		3	29	0	0	0	0.009096	0	3	29				
CCIN	881	broad.mit.edu	37	9	36170694	36170694	+	Missense_Mutation	SNP	C	C	G	rs142836285	byFrequency	TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr9:36170694C>G	ENST00000335119.2	+	1	1306	c.1195C>G	c.(1195-1197)Cgg>Ggg	p.R399G		NM_005893.2	NP_005884.2	Q13939	CALI_HUMAN	calicin	399					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)		p.R399W(1)		breast(3)|endometrium(2)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(4)	21			STAD - Stomach adenocarcinoma(86;0.228)			CTATGATGAGCGGAAGGAAGT	0.557																																							uc003zzb.3		NA																	1	Substitution - Missense(1)		large_intestine(1)	ovary(1)|skin(1)	2						c.(1195-1197)CGG>GGG		calicin							151.0	117.0	128.0					9																	36170694		2203	4300	6503	SO:0001583	missense	881				cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton	g.chr9:36170694C>G	Z46967	CCDS6599.1	9p13.1	2013-10-02			ENSG00000185972	ENSG00000185972		"""BTB/POZ domain containing"""	1568	protein-coding gene	gene with protein product		603960				7641791	Standard	NM_005893		Approved	KBTBD14, BTBD20	uc003zzb.4	Q13939	OTTHUMG00000019901	ENST00000335119.2:c.1195C>G	9.37:g.36170694C>G	ENSP00000334996:p.Arg399Gly						p.R399G	NM_005893	NP_005884	Q13939	CALI_HUMAN	STAD - Stomach adenocarcinoma(86;0.228)		1	1306	+			399			Kelch 3.		Q9BXG7	Missense_Mutation	SNP	ENST00000335119.2	37	c.1195C>G	CCDS6599.1	.	.	.	.	.	.	.	.	.	.	C	10.18	1.278669	0.23307	.	.	ENSG00000185972	ENST00000335119	T	0.66460	-0.21	5.73	4.76	0.60689	Kelch-type beta propeller (1);	0.275863	0.24314	N	0.039607	T	0.52141	0.1716	N	0.14661	0.345	0.32783	N	0.502227	P	0.43169	0.8	P	0.45881	0.496	T	0.58434	-0.7637	10	0.25751	T	0.34	.	10.2547	0.43390	0.244:0.756:0.0:0.0	.	399	Q13939	CALI_HUMAN	G	399	ENSP00000334996:R399G	ENSP00000334996:R399G	R	+	1	2	CCIN	36160694	0.992000	0.36948	1.000000	0.80357	0.982000	0.71751	1.051000	0.30417	2.699000	0.92147	0.491000	0.48974	CGG		0.557	CCIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052418.1	NM_005893		74	31	0	0	0	0.00361	0	74	31				
FRMPD1	22844	broad.mit.edu	37	9	37745949	37745949	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr9:37745949C>A	ENST00000539465.1	+	16	4513	c.3920C>A	c.(3919-3921)tCt>tAt	p.S1307Y	FRMPD1_ENST00000377765.3_Missense_Mutation_p.S1307Y|RP11-613M10.9_ENST00000540557.1_Intron			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	1307						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)				NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		CCTGAAGTCTCTGCCAGTCTC	0.507																																							uc004aag.1		NA																	0				ovary(4)|central_nervous_system(2)|skin(2)|breast(1)	9						c.(3919-3921)TCT>TAT		FERM and PDZ domain containing 1							99.0	99.0	99.0					9																	37745949		2203	4300	6503	SO:0001583	missense	22844					cytoskeleton|cytosol|plasma membrane		g.chr9:37745949C>A	AB023184	CCDS6612.1	9p13.1	2008-02-05			ENSG00000070601	ENSG00000070601			29159	protein-coding gene	gene with protein product						10231032	Standard	NM_014907		Approved	KIAA0967, FRMD2	uc004aag.1	Q5SYB0	OTTHUMG00000019927	ENST00000539465.1:c.3920C>A	9.37:g.37745949C>A	ENSP00000444411:p.Ser1307Tyr					FRMPD1_uc004aah.1_Missense_Mutation_p.S1307Y	p.S1307Y	NM_014907	NP_055722	Q5SYB0	FRPD1_HUMAN		GBM - Glioblastoma multiforme(29;0.00655)	16	3964	+			1307					B4DZC8|B7Z807|D3DRQ3|Q14C73|Q5HY96|Q9Y2H3	Missense_Mutation	SNP	ENST00000539465.1	37	c.3920C>A	CCDS6612.1	.	.	.	.	.	.	.	.	.	.	C	15.89	2.965249	0.53507	.	.	ENSG00000070601	ENST00000377765;ENST00000539465	T;T	0.09445	2.98;2.98	5.33	4.44	0.53790	.	0.475110	0.21526	N	0.073124	T	0.14227	0.0344	L	0.27053	0.805	0.24809	N	0.992654	D	0.55385	0.971	P	0.54401	0.751	T	0.04268	-1.0964	10	0.72032	D	0.01	-3.6928	9.9312	0.41523	0.0:0.9061:0.0:0.0939	.	1307	Q5SYB0	FRPD1_HUMAN	Y	1307	ENSP00000366995:S1307Y;ENSP00000444411:S1307Y	ENSP00000366995:S1307Y	S	+	2	0	FRMPD1	37735949	0.002000	0.14202	0.003000	0.11579	0.970000	0.65996	1.441000	0.35035	1.257000	0.44085	0.561000	0.74099	TCT		0.507	FRMPD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402969.1	NM_014907		6	35	1	0	0.00116845	0.001168	0.00123451	6	35				
Unknown	0	broad.mit.edu	37	9	69067929	69067929	+	IGR	SNP	G	G	A	rs113676670		TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr9:69067929G>A								MIR1299 (65608 upstream) : PGM5P2 (12310 downstream)																							TGATATGTTGGTGAGTCAGTT	0.279																																							uc004afe.1		NA																	0					NA						c.e3+1		Homo sapiens cDNA, FLJ18209.																																				SO:0001628	intergenic_variant	0							g.chr9:69067929G>A																													9.37:g.69067929G>A						uc010mnq.1_Splice_Site								3		+									Splice_Site	SNP		37	c.744_splice																																																																																				0	0.279									5	2	0	0	0	0.00308	0	5	2				
TRPM6	140803	broad.mit.edu	37	9	77354675	77354675	+	Missense_Mutation	SNP	G	G	C			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr9:77354675G>C	ENST00000360774.1	-	34	5688	c.5451C>G	c.(5449-5451)atC>atG	p.I1817M	TRPM6_ENST00000451710.3_Missense_Mutation_p.I1821M|TRPM6_ENST00000376872.3_Missense_Mutation_p.I772M|TRPM6_ENST00000361255.3_Missense_Mutation_p.I1812M|TRPM6_ENST00000449912.2_Missense_Mutation_p.I1812M|TRPM6_ENST00000376864.4_Missense_Mutation_p.I1821M|TRPM6_ENST00000376871.3_Missense_Mutation_p.I654M	NM_017662.4	NP_060132.3	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	1817	Alpha-type protein kinase. {ECO:0000255|PROSITE-ProRule:PRU00501}.				calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						TCTCCTGGAAGATTTTATGCC	0.483																																							uc004ajl.1		NA																	0				lung(3)|stomach(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	8						c.(5449-5451)ATC>ATG		transient receptor potential cation channel,							155.0	157.0	156.0					9																	77354675		2203	4300	6503	SO:0001583	missense	140803				response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr9:77354675G>C	AK026281	CCDS6647.1, CCDS55318.1, CCDS55319.1	9q21.13	2011-12-14	2003-12-02		ENSG00000119121	ENSG00000119121		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17995	protein-coding gene	gene with protein product		607009	"""hypomagnesemia, secondary hypocalcemia"""	HOMG, HSH		10021370, 12032570, 16382100	Standard	NM_017662		Approved	CHAK2, FLJ22628	uc004ajk.1	Q9BX84	OTTHUMG00000020027	ENST00000360774.1:c.5451C>G	9.37:g.77354675G>C	ENSP00000354006:p.Ile1817Met					TRPM6_uc004ajk.1_Missense_Mutation_p.I1812M|TRPM6_uc010mpb.1_RNA|TRPM6_uc010mpc.1_Missense_Mutation_p.I768M|TRPM6_uc010mpd.1_Missense_Mutation_p.I650M|TRPM6_uc010mpe.1_Missense_Mutation_p.I364M|TRPM6_uc004ajj.1_Missense_Mutation_p.I773M	p.I1817M	NM_017662	NP_060132	Q9BX84	TRPM6_HUMAN			34	5689	-			1817			Alpha-type protein kinase.|Cytoplasmic (Potential).		Q6VPR8|Q6VPR9|Q6VPS0|Q6VPS1|Q6VPS2	Missense_Mutation	SNP	ENST00000360774.1	37	c.5451C>G	CCDS6647.1	.	.	.	.	.	.	.	.	.	.	G	12.13	1.844459	0.32606	.	.	ENSG00000119121	ENST00000360774;ENST00000451710;ENST00000376872;ENST00000376871;ENST00000449912;ENST00000361255;ENST00000376870;ENST00000376864	T;T;T;T;T;T;T	0.07021	3.23;3.23;3.23;3.23;3.23;3.23;3.23	5.96	1.76	0.24704	MHCK/EF2 kinase (3);Protein kinase-like domain (1);	0.258239	0.45867	D	0.000332	T	0.17109	0.0411	L	0.55481	1.735	0.35354	D	0.787601	P;D;D;D;P;D	0.57899	0.946;0.975;0.975;0.981;0.938;0.977	P;P;D;P;P;P	0.64237	0.792;0.85;0.923;0.878;0.722;0.807	T	0.10613	-1.0622	10	0.87932	D	0	.	6.5502	0.22429	0.1513:0.0:0.4769:0.3719	.	364;650;768;1817;1812;1812	Q9BX84-7;Q9BX84-6;Q9BX84-5;Q9BX84;Q9BX84-3;Q9BX84-2	.;.;.;TRPM6_HUMAN;.;.	M	1817;1821;772;654;1812;1812;363;1821	ENSP00000354006:I1817M;ENSP00000407341:I1821M;ENSP00000366068:I772M;ENSP00000366067:I654M;ENSP00000396672:I1812M;ENSP00000354962:I1812M;ENSP00000366060:I1821M	ENSP00000354006:I1817M	I	-	3	3	TRPM6	76544495	1.000000	0.71417	0.995000	0.50966	0.107000	0.19398	1.216000	0.32443	0.865000	0.35603	-0.122000	0.15005	ATC		0.483	TRPM6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052693.1	NM_017662		16	111	0	0	0	0.006122	0	16	111				
SHC3	53358	broad.mit.edu	37	9	91661855	91661855	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr9:91661855G>T	ENST00000375835.4	-	8	1323	c.1017C>A	c.(1015-1017)caC>caA	p.H339Q	SHC3_ENST00000375830.1_5'UTR	NM_016848.5	NP_058544.3	Q92529	SHC3_HUMAN	SHC (Src homology 2 domain containing) transforming protein 3	339	CH1.				central nervous system development (GO:0007417)|epidermal growth factor receptor signaling pathway (GO:0007173)|insulin receptor signaling pathway (GO:0008286)|learning or memory (GO:0007611)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Ras protein signal transduction (GO:0007265)|synaptic transmission, glutamatergic (GO:0035249)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytosol (GO:0005829)	signal transducer activity (GO:0004871)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|skin(3)	28						TGTAGTATGGGTGGTCTGAGC	0.507																																							uc004aqg.2		NA																	0				lung(3)|skin(1)	4						c.(1015-1017)CAC>CAA		src homology 2 domain-containing transforming							150.0	130.0	137.0					9																	91661855		2203	4300	6503	SO:0001583	missense	53358				central nervous system development|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol	protein binding|signal transducer activity	g.chr9:91661855G>T	D84361	CCDS6681.1	9q22.1	2013-02-14	2005-05-24		ENSG00000148082	ENSG00000148082		"""SH2 domain containing"""	18181	protein-coding gene	gene with protein product		605263	"""src homology 2 domain containing transforming protein C3"""			8808684	Standard	NM_016848		Approved	N-Shc, NSHC, SHCC	uc004aqf.2	Q92529	OTTHUMG00000020179	ENST00000375835.4:c.1017C>A	9.37:g.91661855G>T	ENSP00000364995:p.His339Gln						p.H339Q	NM_016848	NP_058544	Q92529	SHC3_HUMAN			8	1324	-			339			CH1.		Q5T7I7|Q8TAP2|Q9UCX5	Missense_Mutation	SNP	ENST00000375835.4	37	c.1017C>A	CCDS6681.1	.	.	.	.	.	.	.	.	.	.	G	12.28	1.889355	0.33348	.	.	ENSG00000148082	ENST00000375835	T	0.33438	1.41	5.44	-0.126	0.13515	.	0.212136	0.49305	N	0.000142	T	0.45236	0.1332	M	0.83223	2.63	0.80722	D	1	D	0.55172	0.97	P	0.57009	0.811	T	0.38693	-0.9649	10	0.66056	D	0.02	-36.0835	6.4146	0.21710	0.572:0.1311:0.2969:0.0	.	339	Q92529	SHC3_HUMAN	Q	339	ENSP00000364995:H339Q	ENSP00000364995:H339Q	H	-	3	2	SHC3	90851675	0.997000	0.39634	0.428000	0.26697	0.061000	0.15899	0.799000	0.27028	-0.138000	0.11434	-0.768000	0.03414	CAC		0.507	SHC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052986.1	NM_016848		47	18	1	0	1.08114e-33	0.00361	1.68085e-33	47	18				
HEMGN	55363	broad.mit.edu	37	9	100692953	100692953	+	Missense_Mutation	SNP	G	G	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr9:100692953G>A	ENST00000259456.3	-	4	867	c.724C>T	c.(724-726)Ctt>Ttt	p.L242F		NM_018437.3|NM_197978.2	NP_060907.2|NP_932095.1	Q9BXL5	HEMGN_HUMAN	hemogen	242					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)	nucleus (GO:0005634)				NS(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|skin(2)|urinary_tract(1)	27		Acute lymphoblastic leukemia(62;0.0559)				GGACAAGGAAGGATTTTGGGT	0.423																																							uc004axy.2		NA																	0				ovary(1)	1						c.(724-726)CTT>TTT		hemogen							240.0	226.0	230.0					9																	100692953		2203	4300	6503	SO:0001583	missense	55363				cell differentiation|multicellular organismal development			g.chr9:100692953G>A	AF228713	CCDS6731.1	9q22.33	2014-01-21			ENSG00000136929	ENSG00000136929			17509	protein-coding gene	gene with protein product		610715					Standard	NM_018437		Approved	EDAG, CT155, NDR	uc004axy.4	Q9BXL5	OTTHUMG00000020336	ENST00000259456.3:c.724C>T	9.37:g.100692953G>A	ENSP00000259456:p.Leu242Phe					HEMGN_uc004axz.2_Missense_Mutation_p.L242F	p.L242F	NM_197978	NP_932095	Q9BXL5	HEMGN_HUMAN			3	832	-		Acute lymphoblastic leukemia(62;0.0559)	242					Q6XAR3|Q86XY5|Q9NPC0	Missense_Mutation	SNP	ENST00000259456.3	37	c.724C>T	CCDS6731.1	.	.	.	.	.	.	.	.	.	.	G	13.84	2.357620	0.41801	.	.	ENSG00000136929	ENST00000375112;ENST00000259456	.	.	.	5.4	1.33	0.21861	.	0.944398	0.08848	N	0.884826	T	0.31389	0.0795	L	0.44542	1.39	0.09310	N	1	B	0.28178	0.202	B	0.33121	0.158	T	0.34477	-0.9827	9	0.09590	T	0.72	-4.3571	5.0889	0.14698	0.2521:0.0:0.5994:0.1485	.	242	Q9BXL5	HEMGN_HUMAN	F	242	.	ENSP00000259456:L242F	L	-	1	0	HEMGN	99732774	0.001000	0.12720	0.000000	0.03702	0.094000	0.18550	0.269000	0.18589	0.326000	0.23384	0.655000	0.94253	CTT		0.423	HEMGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053344.2	NM_197978		105	81	0	0	0	0.00361	0	105	81				
TMEM246	84302	broad.mit.edu	37	9	104238469	104238469	+	Missense_Mutation	SNP	C	C	G			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr9:104238469C>G	ENST00000374851.1	-	4	2053	c.906G>C	c.(904-906)atG>atC	p.M302I	RP11-490D19.6_ENST00000450109.1_RNA|TMEM246_ENST00000374848.3_Missense_Mutation_p.M302I|TMEM246_ENST00000374847.1_Missense_Mutation_p.M302I|RP11-490D19.6_ENST00000424154.1_RNA|RP11-490D19.6_ENST00000431507.1_RNA|RP11-490D19.6_ENST00000425734.1_RNA			Q9BRR3	TM246_HUMAN	transmembrane protein 246	302						integral component of membrane (GO:0016021)		p.M302I(1)									CCACCAGACCCATGCTATACA	0.567																																							uc004bbm.2		NA																	1	Substitution - Missense(1)		central_nervous_system(1)		0						c.(904-906)ATG>ATC		hypothetical protein LOC84302							122.0	125.0	124.0					9																	104238469		2203	4300	6503	SO:0001583	missense	84302					integral to membrane		g.chr9:104238469C>G	BC006115	CCDS6757.1	9q31.1	2012-04-02	2012-04-02	2012-04-02	ENSG00000165152	ENSG00000165152			28180	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 125"""	C9orf125		12477932	Standard	NM_032342		Approved	MGC12992	uc004bbm.3	Q9BRR3	OTTHUMG00000020381	ENST00000374851.1:c.906G>C	9.37:g.104238469C>G	ENSP00000363984:p.Met302Ile					uc004bbl.1_5'Flank	p.M302I	NM_032342	NP_115718	Q9BRR3	CI125_HUMAN			2	1228	-		Acute lymphoblastic leukemia(62;0.0527)	302			Helical; (Potential).		Q49AQ4	Missense_Mutation	SNP	ENST00000374851.1	37	c.906G>C	CCDS6757.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.600264	0.87055	.	.	ENSG00000165152	ENST00000374848;ENST00000374847;ENST00000374851	.	.	.	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.76421	0.3985	L	0.57536	1.79	0.80722	D	1	D	0.67145	0.996	D	0.73708	0.981	T	0.73142	-0.4076	9	0.36615	T	0.2	-28.6318	18.822	0.92100	0.0:1.0:0.0:0.0	.	302	Q9BRR3	CI125_HUMAN	I	302	.	ENSP00000363980:M302I	M	-	3	0	C9orf125	103278290	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.556000	0.82233	2.700000	0.92200	0.563000	0.77884	ATG		0.567	TMEM246-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053444.1	NM_032342		55	42	0	0	0	0.00361	0	55	42				
COL27A1	85301	broad.mit.edu	37	9	116930095	116930095	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr9:116930095G>T	ENST00000356083.3	+	3	651	c.260G>T	c.(259-261)gGc>gTc	p.G87V		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	87	Laminin G-like.				extracellular matrix organization (GO:0030198)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|fibrillar collagen trimer (GO:0005583)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						GCTCCCACGGGCACCGTCATT	0.667																																							uc011lxl.1		NA																	0				ovary(3)|skin(1)	4						c.(259-261)GGC>GTC		collagen, type XXVII, alpha 1 precursor							53.0	60.0	58.0					9																	116930095		2203	4300	6503	SO:0001583	missense	85301				cell adhesion		extracellular matrix structural constituent	g.chr9:116930095G>T	AB058773	CCDS6802.1	9q33.1	2013-01-16			ENSG00000196739	ENSG00000196739		"""Collagens"""	22986	protein-coding gene	gene with protein product		608461				12766169	Standard	NM_032888		Approved	KIAA1870, MGC11337, FLJ11895	uc011lxl.2	Q8IZC6	OTTHUMG00000020537	ENST00000356083.3:c.260G>T	9.37:g.116930095G>T	ENSP00000348385:p.Gly87Val					COL27A1_uc004bii.2_RNA|COL27A1_uc010mvd.1_5'UTR	p.G87V	NM_032888	NP_116277	Q8IZC6	CORA1_HUMAN			3	260	+			87			Laminin G-like.|TSP N-terminal.		Q66K43|Q96JF7	Missense_Mutation	SNP	ENST00000356083.3	37	c.260G>T	CCDS6802.1	.	.	.	.	.	.	.	.	.	.	G	0.153	-1.089673	0.01873	.	.	ENSG00000196739	ENST00000356083;ENST00000357257;ENST00000374106;ENST00000451716	T;T	0.02015	4.5;4.5	5.32	0.815	0.18763	Concanavalin A-like lectin/glucanase (1);Laminin G, thrombospondin-type, N-terminal (1);	.	.	.	.	T	0.01421	0.0046	N	0.11560	0.145	0.09310	N	1	B	0.24823	0.112	B	0.16722	0.016	T	0.49303	-0.8954	9	0.22109	T	0.4	.	8.9697	0.35899	0.2373:0.2701:0.4927:0.0	.	87	Q8IZC6	CORA1_HUMAN	V	87;87;34;34	ENSP00000348385:G87V;ENSP00000391328:G34V	ENSP00000348385:G87V	G	+	2	0	COL27A1	115969916	0.001000	0.12720	0.006000	0.13384	0.047000	0.14425	0.943000	0.29030	0.602000	0.29896	-0.494000	0.04653	GGC		0.667	COL27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053763.1	NM_032888		67	34	1	0	9.2564e-22	0.00361	1.34772e-21	67	34				
C9orf91	203197	broad.mit.edu	37	9	117405509	117405509	+	Silent	SNP	G	G	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr9:117405509G>T	ENST00000288502.4	+	9	1382	c.945G>T	c.(943-945)acG>acT	p.T315T	C9orf91_ENST00000374049.4_Silent_p.T316T			Q5VZI3	CI091_HUMAN	chromosome 9 open reading frame 91	315						integral component of membrane (GO:0016021)				endometrium(2)|large_intestine(3)|lung(5)|pancreas(1)|skin(1)|urinary_tract(1)	13						CACGACACACGAACTCTCCGA	0.587																																							uc004bjd.3		NA																	0				pancreas(1)	1						c.(943-945)ACG>ACT		hypothetical protein LOC203197							111.0	95.0	100.0					9																	117405509		2203	4300	6503	SO:0001819	synonymous_variant	203197					integral to membrane		g.chr9:117405509G>T	BX649023	CCDS6808.1	9q33.1	2008-02-05			ENSG00000157693	ENSG00000157693			24513	protein-coding gene	gene with protein product						14702039	Standard	NM_153045		Approved	DKFZp547P234, FLJ38045	uc004bjd.4	Q5VZI3	OTTHUMG00000020541	ENST00000288502.4:c.945G>T	9.37:g.117405509G>T						C9orf91_uc004bje.3_Silent_p.T294T|C9orf91_uc004bjf.3_Silent_p.T214T	p.T315T	NM_153045	NP_694590	Q5VZI3	CI091_HUMAN			9	1162	+			315					A0PJA3|Q3KNS4|Q5VZI2|Q6P5Z7|Q8N1P3|Q8ND43	Silent	SNP	ENST00000288502.4	37	c.945G>T	CCDS6808.1																																																																																				0.587	C9orf91-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000053780.1	NM_153045		60	32	1	0	3.86002e-21	0.00361	5.57988e-21	60	32				
ASTN2	23245	broad.mit.edu	37	9	119203026	119203026	+	Missense_Mutation	SNP	C	C	G			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr9:119203026C>G	ENST00000313400.4	-	22	3744	c.3644G>C	c.(3643-3645)gGa>gCa	p.G1215A	ASTN2_ENST00000361209.2_Missense_Mutation_p.G1164A|ASTN2_ENST00000341734.4_Missense_Mutation_p.G267A|ASTN2_ENST00000288520.5_Missense_Mutation_p.G316A|ASTN2_ENST00000361477.3_Missense_Mutation_p.G267A|ASTN2_ENST00000373996.3_Missense_Mutation_p.G1211A			O75129	ASTN2_HUMAN	astrotactin 2	1215					negative regulation of protein localization to cell surface (GO:2000009)	cell pole (GO:0060187)|endosome (GO:0005768)|integral component of membrane (GO:0016021)				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						CTGCTCCTTTCCACTTGTGTA	0.473																																							uc004bjs.1		NA																	0				skin(4)|ovary(3)|breast(1)|kidney(1)	9						c.(3643-3645)GGA>GCA		astrotactin 2 isoform c							196.0	154.0	168.0					9																	119203026		2203	4300	6503	SO:0001583	missense	23245					integral to membrane		g.chr9:119203026C>G	AF116574	CCDS6814.1, CCDS6815.1, CCDS48009.1, CCDS48009.2, CCDS55334.1	9q33	2008-02-05			ENSG00000148219	ENSG00000148219			17021	protein-coding gene	gene with protein product		612856				9734811	Standard	NM_014010		Approved	KIAA0634	uc004bjt.2	O75129	OTTHUMG00000021013	ENST00000313400.4:c.3644G>C	9.37:g.119203026C>G	ENSP00000314038:p.Gly1215Ala					ASTN2_uc004bjr.1_Missense_Mutation_p.G1211A|ASTN2_uc004bjt.1_Missense_Mutation_p.G1164A|ASTN2_uc004bjp.1_Missense_Mutation_p.G308A|ASTN2_uc004bjq.1_Missense_Mutation_p.G267A|ASTN2_uc011lxr.1_Missense_Mutation_p.G267A|ASTN2_uc011lxs.1_Missense_Mutation_p.G267A|ASTN2_uc011lxt.1_Missense_Mutation_p.G267A|ASTN2_uc004bjo.1_5'UTR	p.G1215A	NM_198187	NP_937830	O75129	ASTN2_HUMAN			22	3745	-			1215			Extracellular (Potential).		A2A2T7|A2A2T9|Q52LQ2|Q5JVX8|Q5JVX9|Q5JVY1|Q5VXG8|Q5VZX6|Q8N6P8|Q8WV47|Q96FL4|Q9UHW6	Missense_Mutation	SNP	ENST00000313400.4	37	c.3644G>C		.	.	.	.	.	.	.	.	.	.	C	22.0	4.230236	0.79688	.	.	ENSG00000148219	ENST00000313400;ENST00000373996;ENST00000288520;ENST00000341734;ENST00000373986;ENST00000361209;ENST00000361477	T;T;T;T;T;T;T	0.21361	2.43;2.43;2.01;2.05;2.27;2.5;2.05	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.39809	0.1092	L	0.34521	1.04	0.80722	D	1	D;D;D;D;D;D;D	0.89917	0.999;0.999;1.0;0.999;1.0;0.999;0.999	D;D;D;D;D;D;D	0.87578	0.996;0.998;0.998;0.996;0.992;0.998;0.998	T	0.08229	-1.0732	10	0.62326	D	0.03	-14.9121	20.2985	0.98592	0.0:1.0:0.0:0.0	.	267;267;1164;1215;1211;267;316	B7ZKP4;B7ZKP5;O75129-2;O75129;O75129-3;O75129-6;O75129-4	.;.;.;ASTN2_HUMAN;.;.;.	A	1215;1211;316;267;938;1164;267	ENSP00000314038:G1215A;ENSP00000363108:G1211A;ENSP00000288520:G316A;ENSP00000339925:G267A;ENSP00000363098:G938A;ENSP00000354504:G1164A;ENSP00000355116:G267A	ENSP00000288520:G316A	G	-	2	0	ASTN2	118242847	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.739000	0.84976	2.793000	0.96121	0.655000	0.94253	GGA		0.473	ASTN2-201	KNOWN	basic	protein_coding	protein_coding		NM_014010		8	91	0	0	0	0.008291	0	8	91				
LHX6	26468	broad.mit.edu	37	9	124979357	124979357	+	Silent	SNP	G	G	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr9:124979357G>T	ENST00000373755.2	-	4	693	c.585C>A	c.(583-585)gcC>gcA	p.A195A	LHX6_ENST00000340587.3_Silent_p.A224A|LHX6_ENST00000559895.1_Silent_p.A8A|LHX6_ENST00000394319.4_Silent_p.A224A|LHX6_ENST00000373754.2_Silent_p.A195A|LHX6_ENST00000541397.2_Silent_p.A213A	NM_001242334.1	NP_001229263.1	Q9UPM6	LHX6_HUMAN	LIM homeobox 6	195					cell maturation (GO:0048469)|cerebral cortex GABAergic interneuron migration (GO:0021853)|cerebral cortex radially oriented cell migration (GO:0021799)|cerebral cortex tangential migration (GO:0021800)|forebrain neuron fate commitment (GO:0021877)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(5)	8						CGTTCTCGGCGGCCCTCTTGA	0.647																																							uc010mvw.2		NA																	0					0						c.(583-585)GCC>GCA		LIM homeobox protein 6 isoform 1							79.0	72.0	74.0					9																	124979357		2203	4300	6503	SO:0001819	synonymous_variant	26468				cell maturation|cerebral cortex GABAergic interneuron migration|cerebral cortex radially oriented cell migration|cerebral cortex tangential migration	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr9:124979357G>T	AB031041	CCDS6837.2, CCDS6838.2, CCDS56583.1, CCDS56584.1, CCDS59144.1	9q33.2	2011-06-20			ENSG00000106852	ENSG00000106852		"""Homeoboxes / LIM class"""	21735	protein-coding gene	gene with protein product		608215				10393337	Standard	NM_014368		Approved	LHX6.1	uc004blx.4	Q9UPM6	OTTHUMG00000020601	ENST00000373755.2:c.585C>A	9.37:g.124979357G>T						LHX6_uc004blx.3_Silent_p.A224A|LHX6_uc004bly.3_Silent_p.A224A	p.A195A	NM_014368	NP_055183	Q9UPM6	LHX6_HUMAN			4	694	-			195					A6PVQ1|A6PVQ2|A8K1B2|B7Z4D0|H0YN76|Q5T7S7|Q5T7S8|Q9NTK3|Q9UPM5	Silent	SNP	ENST00000373755.2	37	c.585C>A	CCDS56583.1																																																																																				0.647	LHX6-002	KNOWN	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053924.2	NM_014368		43	33	1	0	1.0442e-30	0.00361	1.59878e-30	43	33				
ZBTB26	57684	broad.mit.edu	37	9	125681796	125681796	+	Missense_Mutation	SNP	C	C	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr9:125681796C>T	ENST00000373656.3	-	2	491	c.418G>A	c.(418-420)Gaa>Aaa	p.E140K	ZBTB26_ENST00000373654.1_Missense_Mutation_p.E140K	NM_020924.2	NP_065975.1	Q9HCK0	ZBT26_HUMAN	zinc finger and BTB domain containing 26	140					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(4)|prostate(1)	11						CTCTGTGGTTCACATCCCTCT	0.468																																							uc004bnj.2		NA																	0					0						c.(418-420)GAA>AAA		zinc finger and BTB domain containing 26							154.0	135.0	141.0					9																	125681796		2203	4300	6503	SO:0001583	missense	57684				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:125681796C>T	AB046792	CCDS6847.1	9q34.11	2013-01-08	2004-04-15	2004-04-16	ENSG00000171448	ENSG00000171448		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	23383	protein-coding gene	gene with protein product			"""zinc finger protein 481"""	ZNF481			Standard	NM_020924		Approved		uc004bnk.3	Q9HCK0	OTTHUMG00000020627	ENST00000373656.3:c.418G>A	9.37:g.125681796C>T	ENSP00000362760:p.Glu140Lys					ZBTB26_uc004bnk.2_Missense_Mutation_p.E140K	p.E140K	NM_020924	NP_065975	Q9HCK0	ZBT26_HUMAN			2	630	-			140					B3KQ53|Q8WTR1	Missense_Mutation	SNP	ENST00000373656.3	37	c.418G>A	CCDS6847.1	.	.	.	.	.	.	.	.	.	.	C	10.95	1.496686	0.26861	.	.	ENSG00000171448	ENST00000373656;ENST00000373654	T;T	0.10960	2.82;2.82	5.43	5.43	0.79202	.	0.136200	0.48286	D	0.000193	T	0.05914	0.0154	N	0.08118	0	0.37121	D	0.900801	B	0.18461	0.028	B	0.10450	0.005	T	0.35992	-0.9766	10	0.10902	T	0.67	.	14.8264	0.70117	0.0:0.8565:0.1435:0.0	.	140	Q9HCK0	ZBT26_HUMAN	K	140	ENSP00000362760:E140K;ENSP00000362758:E140K	ENSP00000362758:E140K	E	-	1	0	ZBTB26	124721617	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	2.742000	0.47434	2.547000	0.85894	0.591000	0.81541	GAA		0.468	ZBTB26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053960.1	NM_020924		16	50	0	0	0	0.00499	0	16	50				
RAPGEF1	2889	broad.mit.edu	37	9	134471693	134471693	+	Missense_Mutation	SNP	T	T	C			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr9:134471693T>C	ENST00000372189.3	-	14	2246	c.2123A>G	c.(2122-2124)gAc>gGc	p.D708G	RAPGEF1_ENST00000372195.1_Missense_Mutation_p.D725G|RAPGEF1_ENST00000372190.3_Missense_Mutation_p.D726G	NM_005312.2	NP_005303.2	Q13905	RPGF1_HUMAN	Rap guanine nucleotide exchange factor (GEF) 1	708	N-terminal Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00135}.				activation of MAPKK activity (GO:0000186)|blood vessel development (GO:0001568)|cellular response to cAMP (GO:0071320)|cellular response to nerve growth factor stimulus (GO:1990090)|establishment of endothelial barrier (GO:0061028)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of Ras protein signal transduction (GO:0046580)|nerve growth factor signaling pathway (GO:0038180)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of neuron projection development (GO:0010976)|positive regulation of Rap GTPase activity (GO:0032854)|Rap protein signal transduction (GO:0032486)|regulation of cell junction assembly (GO:1901888)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytosol (GO:0005829)|early endosome (GO:0005769)|endosome (GO:0005768)	Rap guanyl-nucleotide exchange factor activity (GO:0017034)			NS(2)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	39		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.19e-05)|Epithelial(140;0.000364)		ACCTTTCCTGTCAGTCTCAGT	0.607																																							uc004cbc.2		NA																	0				lung(3)|ovary(2)|breast(1)|skin(1)	7						c.(2122-2124)GAC>GGC		guanine nucleotide-releasing factor 2 isoform a							90.0	103.0	98.0					9																	134471693		2132	4237	6369	SO:0001583	missense	2889				activation of MAPKK activity|nerve growth factor receptor signaling pathway|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|endosome	guanyl-nucleotide exchange factor activity|SH3 domain binding	g.chr9:134471693T>C	BC041710	CCDS48047.1	9q34.3	2008-02-05	2004-03-01	2004-03-02	ENSG00000107263	ENSG00000107263			4568	protein-coding gene	gene with protein product		600303	"""guanine nucleotide-releasing factor 2 (specific for crk proto-oncogene)"""	GRF2		7959692, 7512734	Standard	NM_005312		Approved	C3G	uc022bos.1	Q13905	OTTHUMG00000020829	ENST00000372189.3:c.2123A>G	9.37:g.134471693T>C	ENSP00000361263:p.Asp708Gly					RAPGEF1_uc004cbb.2_Missense_Mutation_p.D726G|RAPGEF1_uc010mzm.2_RNA|RAPGEF1_uc010mzn.2_Missense_Mutation_p.D883G|RAPGEF1_uc004cbd.2_Missense_Mutation_p.D713G	p.D708G	NM_005312	NP_005303	Q13905	RPGF1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;2.19e-05)|Epithelial(140;0.000364)	14	2253	-		Myeloproliferative disorder(178;0.204)	708			N-terminal Ras-GEF.		Q5JUE4|Q8IV73	Missense_Mutation	SNP	ENST00000372189.3	37	c.2123A>G	CCDS48047.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	18.18|18.18	3.566906|3.566906	0.65651|0.65651	.|.	.|.	ENSG00000107263|ENSG00000107263	ENST00000266110;ENST00000372195;ENST00000429421;ENST00000372189;ENST00000372190;ENST00000411834;ENST00000337036;ENST00000398415;ENST00000357686|ENST00000414781	T;T;T|.	0.30448|.	1.53;1.53;1.53|.	5.57|5.57	5.57|5.57	0.84162|0.84162	Ras guanine nucleotide exchange factor, domain (1);Ras-like guanine nucleotide exchange factor, N-terminal (3);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.62392|.	0.2424|.	L|L	0.48362|0.48362	1.52|1.52	0.58432|0.58432	D|D	0.999994|0.999994	P;P;P|.	0.47762|.	0.863;0.722;0.9|.	P;P;P|.	0.54815|.	0.761;0.601;0.648|.	T|.	0.59920|.	-0.7363|.	10|.	0.56958|.	D|.	0.05|.	.|.	14.9109|14.9109	0.70755|0.70755	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	725;708;726|.	Q68DL3;Q13905;Q13905-3|.	.;RPGF1_HUMAN;.|.	G|W	708;725;654;708;726;688;686;153;725|135	ENSP00000361269:D725G;ENSP00000361263:D708G;ENSP00000361264:D726G|.	ENSP00000266110:D708G|.	D|X	-|-	2|3	0|0	RAPGEF1|RAPGEF1	133461514|133461514	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.850000|0.850000	0.48378|0.48378	7.666000|7.666000	0.83877|0.83877	2.113000|2.113000	0.64589|0.64589	0.459000|0.459000	0.35465|0.35465	GAC|TGA		0.607	RAPGEF1-001	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054759.2	NM_005312		13	49	0	0	0	0.001855	0	13	49				
NTNG2	84628	broad.mit.edu	37	9	135114648	135114648	+	Silent	SNP	C	C	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr9:135114648C>T	ENST00000393229.3	+	6	1988	c.1212C>T	c.(1210-1212)aaC>aaT	p.N404N	NTNG2_ENST00000360670.3_Silent_p.N410N|NTNG2_ENST00000393228.4_Silent_p.N396N	NM_032536.2	NP_115925.2	Q96CW9	NTNG2_HUMAN	netrin G2	404	Laminin EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00460}.				axonogenesis (GO:0007409)	anchored component of plasma membrane (GO:0046658)|axon (GO:0030424)				central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	29				OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173)		ATGATGAGAACGTCTGCATTG	0.642																																							uc004cbh.2		NA																	0					0						c.(1210-1212)AAC>AAT		netrin G2 precursor							56.0	46.0	50.0					9																	135114648		2203	4300	6503	SO:0001819	synonymous_variant	84628				axonogenesis	anchored to plasma membrane		g.chr9:135114648C>T	AB058760	CCDS6946.1	9q34	2013-03-01	2003-12-02	2003-12-03	ENSG00000196358	ENSG00000196358		"""Netrins"""	14288	protein-coding gene	gene with protein product	"""Netrin-G2"""		"""netrin G1"""	NTNG1			Standard	NM_032536		Approved	KIAA1857, Lmnt2	uc004cbh.2	Q96CW9	OTTHUMG00000020835	ENST00000393229.3:c.1212C>T	9.37:g.135114648C>T							p.N404N	NM_032536	NP_115925	Q96CW9	NTNG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173)	6	1988	+			404			Laminin EGF-like 2.		Q5JUJ2|Q6UXY0|Q96JH0	Silent	SNP	ENST00000393229.3	37	c.1212C>T	CCDS6946.1																																																																																				0.642	NTNG2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054779.1	NM_032536		6	46	0	0	0	0.001984	0	6	46				
DBH	1621	broad.mit.edu	37	9	136521726	136521726	+	Missense_Mutation	SNP	G	G	T	rs148439785	byFrequency	TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr9:136521726G>T	ENST00000393056.2	+	10	1528	c.1516G>T	c.(1516-1518)Gct>Tct	p.A506S	DBH-AS1_ENST00000425189.1_RNA	NM_000787.3	NP_000778.3	P09172	DOPO_HUMAN	dopamine beta-hydroxylase (dopamine beta-monooxygenase)	506					behavioral response to ethanol (GO:0048149)|blood vessel remodeling (GO:0001974)|catecholamine biosynthetic process (GO:0042423)|cellular nitrogen compound metabolic process (GO:0034641)|cytokine production (GO:0001816)|dopamine catabolic process (GO:0042420)|fear response (GO:0042596)|glucose homeostasis (GO:0042593)|homoiothermy (GO:0042309)|leukocyte mediated immunity (GO:0002443)|leukocyte migration (GO:0050900)|locomotory behavior (GO:0007626)|maternal behavior (GO:0042711)|memory (GO:0007613)|norepinephrine biosynthetic process (GO:0042421)|positive regulation of vasoconstriction (GO:0045907)|regulation of cell proliferation (GO:0042127)|regulation of extrinsic apoptotic signaling pathway (GO:2001236)|response to amphetamine (GO:0001975)|response to pain (GO:0048265)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|secretory granule lumen (GO:0034774)	catalytic activity (GO:0003824)|copper ion binding (GO:0005507)|dopamine beta-monooxygenase activity (GO:0004500)|L-ascorbic acid binding (GO:0031418)			central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	36				OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05)	Disulfiram(DB00822)|Dopamine(DB00988)|Propylthiouracil(DB00550)|Vitamin C(DB00126)	CTGCAAGAGCGCTGTGGACGC	0.612																																							uc004cel.2		NA																	0				ovary(2)|central_nervous_system(2)	4						c.(1516-1518)GCT>TCT		dopamine beta hydroxylase precursor	Dopamine(DB00988)|Vitamin C(DB00126)						52.0	50.0	51.0					9																	136521726		2203	4300	6503	SO:0001583	missense	1621				hormone biosynthetic process	chromaffin granule lumen|chromaffin granule membrane|extracellular region|integral to membrane|membrane fraction|soluble fraction|transport vesicle membrane	dopamine beta-monooxygenase activity|L-ascorbic acid binding	g.chr9:136521726G>T	X13256	CCDS6977.2	9q34	2013-06-03			ENSG00000123454	ENSG00000123454	1.14.17.1		2689	protein-coding gene	gene with protein product		609312					Standard	NM_000787		Approved	DBM	uc004cel.3	P09172	OTTHUMG00000020878	ENST00000393056.2:c.1516G>T	9.37:g.136521726G>T	ENSP00000376776:p.Ala506Ser					uc010nao.1_Intron	p.A506S	NM_000787	NP_000778	P09172	DOPO_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05)	10	1525	+			506			Intragranular (Potential).		Q5T381|Q96AG2	Missense_Mutation	SNP	ENST00000393056.2	37	c.1516G>T	CCDS6977.2	.	.	.	.	.	.	.	.	.	.	G	2.777	-0.254274	0.05829	.	.	ENSG00000123454	ENST00000393056	T	0.76709	-1.04	4.63	-0.972	0.10300	PHM/PNGase F domain (1);Copper type II, ascorbate-dependent monooxygenase-like, C-terminal (1);	0.559070	0.20148	N	0.098235	T	0.47135	0.1429	N	0.11651	0.15	0.09310	N	1	B	0.18166	0.026	B	0.20384	0.029	T	0.24548	-1.0157	10	0.10111	T	0.7	-28.8823	0.8409	0.01149	0.2781:0.1168:0.3656:0.2395	.	506	P09172	DOPO_HUMAN	S	506	ENSP00000376776:A506S	ENSP00000376776:A506S	A	+	1	0	DBH	135511547	0.002000	0.14202	0.013000	0.15412	0.469000	0.32828	0.620000	0.24403	-0.177000	0.10690	0.491000	0.48974	GCT		0.612	DBH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054929.2	NM_000787		4	38	1	0	0.00024832	0.009096	0.00026826	4	38				
KCNT1	57582	broad.mit.edu	37	9	138669354	138669354	+	Silent	SNP	C	C	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr9:138669354C>T	ENST00000263604.3	+	21	2463	c.2463C>T	c.(2461-2463)aaC>aaT	p.N821N	KCNT1_ENST00000298480.5_Silent_p.N840N|KCNT1_ENST00000488444.2_Silent_p.N821N|KCNT1_ENST00000371757.2_Silent_p.N840N|KCNT1_ENST00000486577.2_Silent_p.N799N|KCNT1_ENST00000490355.2_Silent_p.N819N|KCNT1_ENST00000491806.2_Silent_p.N807N|KCNT1_ENST00000487664.1_Silent_p.N795N			Q5JUK3	KCNT1_HUMAN	potassium channel, subfamily T, member 1	821					potassium ion transmembrane transport (GO:0071805)	voltage-gated potassium channel complex (GO:0008076)	calcium-activated potassium channel activity (GO:0015269)|voltage-gated potassium channel activity (GO:0005249)			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		TGCTGGACAACAAGTGAGGCT	0.657																																							uc011mdq.1		NA																	0				large_intestine(2)|ovary(1)|pancreas(1)	4						c.(2518-2520)AAC>AAT		potassium channel, subfamily T, member 1							48.0	41.0	43.0					9																	138669354		2203	4300	6503	SO:0001819	synonymous_variant	57582					membrane	binding|calcium-activated potassium channel activity	g.chr9:138669354C>T	AB037843	CCDS35175.1, CCDS35175.2, CCDS65188.1	9q34.3	2012-07-05			ENSG00000107147	ENSG00000107147		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	18865	protein-coding gene	gene with protein product		608167				10718198, 16382103	Standard	NM_020822		Approved	KCa4.1, KIAA1422	uc011mdq.2	Q5JUK3	OTTHUMG00000020917	ENST00000263604.3:c.2463C>T	9.37:g.138669354C>T						KCNT1_uc011mdr.1_Silent_p.N667N|KCNT1_uc010nbf.2_Silent_p.N795N|KCNT1_uc004cgo.1_Silent_p.N589N	p.N840N	NM_020822	NP_065873	Q5JUK3	KCNT1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)	21	2594	+		Myeloproliferative disorder(178;0.0821)	840					B3KXF7|B7ZVY4|B9EGP2|G5E9V0|Q9P2C5	Silent	SNP	ENST00000263604.3	37	c.2520C>T																																																																																					0.657	KCNT1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_020822		20	14	0	0	0	0.002299	0	20	14				
CACNA1B	774	broad.mit.edu	37	9	140772602	140772602	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr9:140772602C>A	ENST00000371372.1	+	1	362	c.217C>A	c.(217-219)Cgc>Agc	p.R73S	CACNA1B_ENST00000371357.1_Missense_Mutation_p.R73S|CACNA1B_ENST00000371363.1_Missense_Mutation_p.R73S|CACNA1B_ENST00000277549.5_5'UTR|CACNA1B_ENST00000277551.2_Missense_Mutation_p.R73S|RP11-188C12.3_ENST00000371390.1_RNA|CACNA1B_ENST00000371355.4_Missense_Mutation_p.R73S	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	73					calcium ion import (GO:0070509)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|neurotransmitter secretion (GO:0007269)|regulation of blood pressure (GO:0008217)|regulation of calcium ion transport (GO:0051924)|regulation of heart contraction (GO:0008016)|response to pain (GO:0048265)|synaptic transmission (GO:0007268)|transport (GO:0006810)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|protein C-terminus binding (GO:0008022)|voltage-gated calcium channel activity (GO:0005245)	p.R73C(1)		NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)|Levetiracetam(DB01202)|Spironolactone(DB00421)|Verapamil(DB00661)	CACCGTCAACCGCTCGCTCTT	0.667																																							uc004cog.2		NA																	1	Substitution - Missense(1)		large_intestine(1)	breast(3)|large_intestine(2)|ovary(1)	6						c.(217-219)CGC>AGC		calcium channel, voltage-dependent, N type,	Amlodipine(DB00381)|Gabapentin(DB00996)						29.0	35.0	33.0					9																	140772602		2078	4213	6291	SO:0001583	missense	774				membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity	g.chr9:140772602C>A	AB209467	CCDS59522.1, CCDS59523.1	9q34	2013-01-10	2007-02-16		ENSG00000148408	ENSG00000148408		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1389	protein-coding gene	gene with protein product		601012		CACNL1A5		8825650, 16382099	Standard	NM_000718		Approved	Cav2.2, CACNN	uc004cog.3	Q00975	OTTHUMG00000021002	ENST00000371372.1:c.217C>A	9.37:g.140772602C>A	ENSP00000360423:p.Arg73Ser					uc004cof.1_Intron	p.R73S	NM_000718	NP_000709	Q00975	CAC1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	1	362	+	all_cancers(76;0.166)		73			Cytoplasmic (Potential).		B1AQK5	Missense_Mutation	SNP	ENST00000371372.1	37	c.217C>A	CCDS59522.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.971177	0.74246	.	.	ENSG00000148408	ENST00000371372;ENST00000277551;ENST00000371363;ENST00000371357;ENST00000371355	T;T;T;T;T	0.53640	0.61;0.61;0.61;0.61;0.61	3.46	3.46	0.39613	.	0.300780	0.25380	U	0.031094	T	0.43765	0.1262	M	0.69248	2.105	0.80722	D	1	B	0.25667	0.131	B	0.19666	0.026	T	0.45086	-0.9285	10	0.46703	T	0.11	.	10.1613	0.42853	0.2156:0.7844:0.0:0.0	.	73	B1AQK6	.	S	73	ENSP00000360423:R73S;ENSP00000277551:R73S;ENSP00000360414:R73S;ENSP00000360408:R73S;ENSP00000360406:R73S	ENSP00000277551:R73S	R	+	1	0	CACNA1B	139892423	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	1.695000	0.37763	1.497000	0.48584	0.298000	0.19748	CGC		0.667	CACNA1B-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055380.1	NM_000718		8	25	1	0	1.58986e-06	0.008291	1.8065e-06	8	25				
P2RY8	286530	broad.mit.edu	37	X	1584597	1584597	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chrX:1584597G>T	ENST00000381297.4	-	2	1065	c.855C>A	c.(853-855)aaC>aaA	p.N285K	P2RY8_ENST00000460672.1_5'Flank	NM_178129.4	NP_835230.1	Q86VZ1	P2RY8_HUMAN	purinergic receptor P2Y, G-protein coupled, 8	285						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(13)|prostate(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)				CCAGACAGTTGTTGAGGCAGC	0.582			T	CRLF2	"""B-ALL, Downs associated ALL"""																																		uc004cpz.2		NA		Dom	yes		"""X,Y"""	Xp22.3; Yp11.3	286530	T	"""purinergic receptor P2Y, G-protein coupled, 8"""			L	CRLF2		B-ALL|Downs associated ALL		0				lung(5)	5						c.(853-855)AAC>AAA		G-protein coupled purinergic receptor P2Y8							119.0	118.0	118.0					X																	1584597		2203	4296	6499	SO:0001583	missense	286530					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chrX:1584597G>T	AA804531	CCDS14115.1	Xp22.33 and Yp11.3	2012-08-08			ENSG00000182162	ENSG00000182162		"""Pseudoautosomal regions / PAR1"", ""Purinergic receptors"", ""GPCR / Class A : Purinergic receptors, P2Y"""	15524	protein-coding gene	gene with protein product		300525				11004484	Standard	NM_178129		Approved	P2Y8	uc004cpz.2	Q86VZ1	OTTHUMG00000021060	ENST00000381297.4:c.855C>A	X.37:g.1584597G>T	ENSP00000370697:p.Asn285Lys						p.N285K	NM_178129	NP_835230	Q86VZ1	P2RY8_HUMAN			2	1103	-		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)	285			Helical; Name=7; (Potential).			Missense_Mutation	SNP	ENST00000381297.4	37	c.855C>A	CCDS14115.1	.	.	.	.	.	.	.	.	.	.	g	14.61	2.585351	0.46110	.	.	ENSG00000182162	ENST00000381297	T	0.51817	0.69	2.73	2.73	0.32206	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	U	0.000000	T	0.69984	0.3172	M	0.91249	3.19	0.09310	N	1	D	0.89917	1.0	D	0.76071	0.987	T	0.60875	-0.7176	10	0.87932	D	0	.	7.8936	0.29693	0.1257:0.0:0.8743:0.0	.	285	Q86VZ1	P2RY8_HUMAN	K	285	ENSP00000370697:N285K	ENSP00000370697:N285K	N	-	3	2	P2RY8	1544597	1.000000	0.71417	1.000000	0.80357	0.659000	0.38960	2.748000	0.47483	1.007000	0.39238	0.279000	0.19357	AAC		0.582	P2RY8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055602.1	NM_178129		37	51	1	0	2.77807e-22	0.003214	4.08016e-22	37	51				
MXRA5	25878	broad.mit.edu	37	X	3228409	3228409	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chrX:3228409C>A	ENST00000217939.6	-	7	7989	c.7835G>T	c.(7834-7836)gGg>gTg	p.G2612V		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	2612	Ig-like C2-type 10.					extracellular vesicular exosome (GO:0070062)				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				GCGGTAGGCCCCGGCGTCCAC	0.612																																							uc004crg.3		NA																	0				ovary(5)|lung(1)|central_nervous_system(1)|skin(1)	8						c.(7834-7836)GGG>GTG		adlican precursor							18.0	20.0	19.0					X																	3228409		2174	4245	6419	SO:0001583	missense	25878					extracellular region		g.chrX:3228409C>A	AF245505	CCDS14124.1	Xp22.33	2013-01-29			ENSG00000101825	ENSG00000101825		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	7539	protein-coding gene	gene with protein product	"""adlican"""					12101425	Standard	NM_015419		Approved	DKFZp564I1922	uc004crg.4	Q9NR99	OTTHUMG00000021083	ENST00000217939.6:c.7835G>T	X.37:g.3228409C>A	ENSP00000217939:p.Gly2612Val						p.G2612V	NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN			7	7992	-		all_lung(23;0.00031)|Lung NSC(23;0.000946)	2612			Ig-like C2-type 10.		Q6P1M7|Q9Y3Y8	Missense_Mutation	SNP	ENST00000217939.6	37	c.7835G>T	CCDS14124.1	.	.	.	.	.	.	.	.	.	.	c	14.53	2.561666	0.45590	.	.	ENSG00000101825	ENST00000381114;ENST00000217939	D	0.99051	-5.37	4.23	4.23	0.50019	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.40818	U	0.001008	D	0.99616	0.9860	H	0.99011	4.4	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97344	0.9959	10	0.87932	D	0	.	16.2402	0.82402	0.0:1.0:0.0:0.0	.	2612	Q9NR99	MXRA5_HUMAN	V	2612	ENSP00000217939:G2612V	ENSP00000217939:G2612V	G	-	2	0	MXRA5	3238409	1.000000	0.71417	0.026000	0.17262	0.008000	0.06430	6.580000	0.74040	1.736000	0.51660	0.597000	0.82753	GGG		0.612	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055655.2	NM_015419		3	25	1	0	0.004672	0.004672	0.00489009	3	25				
MXRA5	25878	broad.mit.edu	37	X	3238246	3238246	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chrX:3238246C>A	ENST00000217939.6	-	5	5634	c.5480G>T	c.(5479-5481)gGa>gTa	p.G1827V		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	1827						extracellular vesicular exosome (GO:0070062)				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				GTGGAAGCTTCCTGAGGACTG	0.488																																							uc004crg.3		NA																	0				ovary(5)|lung(1)|central_nervous_system(1)|skin(1)	8						c.(5479-5481)GGA>GTA		adlican precursor							81.0	80.0	80.0					X																	3238246		2203	4300	6503	SO:0001583	missense	25878					extracellular region		g.chrX:3238246C>A	AF245505	CCDS14124.1	Xp22.33	2013-01-29			ENSG00000101825	ENSG00000101825		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	7539	protein-coding gene	gene with protein product	"""adlican"""					12101425	Standard	NM_015419		Approved	DKFZp564I1922	uc004crg.4	Q9NR99	OTTHUMG00000021083	ENST00000217939.6:c.5480G>T	X.37:g.3238246C>A	ENSP00000217939:p.Gly1827Val						p.G1827V	NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN			5	5637	-		all_lung(23;0.00031)|Lung NSC(23;0.000946)	1827					Q6P1M7|Q9Y3Y8	Missense_Mutation	SNP	ENST00000217939.6	37	c.5480G>T	CCDS14124.1	.	.	.	.	.	.	.	.	.	.	C	0.318	-0.963589	0.02249	.	.	ENSG00000101825	ENST00000381114;ENST00000217939	T	0.63580	-0.05	3.53	2.64	0.31445	.	0.616005	0.13302	U	0.398174	T	0.38188	0.1031	N	0.08118	0	0.09310	N	0.999998	B	0.18461	0.028	B	0.11329	0.006	T	0.23619	-1.0183	10	0.46703	T	0.11	.	6.2136	0.20644	0.1855:0.7008:0.0:0.1138	.	1827	Q9NR99	MXRA5_HUMAN	V	1827	ENSP00000217939:G1827V	ENSP00000217939:G1827V	G	-	2	0	MXRA5	3248246	0.902000	0.30710	0.001000	0.08648	0.258000	0.26162	1.844000	0.39269	0.354000	0.24105	0.464000	0.42555	GGA		0.488	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055655.2	NM_015419		8	30	1	0	1.08611e-07	0.000978	1.26254e-07	8	30				
NLGN4X	57502	broad.mit.edu	37	X	5827152	5827152	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chrX:5827152C>A	ENST00000381095.3	-	4	1381	c.754G>T	c.(754-756)Ggc>Tgc	p.G252C	NLGN4X_ENST00000381093.2_Missense_Mutation_p.G272C|NLGN4X_ENST00000381092.1_Missense_Mutation_p.G252C|NLGN4X_ENST00000538097.1_Missense_Mutation_p.G252C|NLGN4X_ENST00000275857.6_Missense_Mutation_p.G252C	NM_001282145.1|NM_001282146.1|NM_181332.1	NP_001269074.1|NP_001269075.1|NP_851849.1	Q8N0W4	NLGNX_HUMAN	neuroligin 4, X-linked	252					adult behavior (GO:0030534)|brainstem development (GO:0003360)|cell-cell junction organization (GO:0045216)|cerebellum development (GO:0021549)|learning (GO:0007612)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|neuron cell-cell adhesion (GO:0007158)|neuron differentiation (GO:0030182)|organ growth (GO:0035265)|presynaptic membrane assembly (GO:0097105)|social behavior (GO:0035176)|synapse organization (GO:0050808)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|excitatory synapse (GO:0060076)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|chloride ion binding (GO:0031404)|neurexin family protein binding (GO:0042043)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)			breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						GCCCCCGAGCCAAAGATGGTC	0.577																																							uc010ndh.2		NA																	0				skin(2)|large_intestine(1)|ovary(1)	4						c.(754-756)GGC>TGC		X-linked neuroligin 4 precursor							71.0	65.0	67.0					X																	5827152		2203	4300	6503	SO:0001583	missense	57502				brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity	g.chrX:5827152C>A	AB033086	CCDS14126.1	Xp22.33	2008-02-05	2004-05-21	2004-05-26	ENSG00000146938	ENSG00000146938			14287	protein-coding gene	gene with protein product		300427	"""neuroligin 4"""	NLGN4		10574462	Standard	XM_005274564		Approved	KIAA1260, NLGN, HLNX	uc004crr.3	Q8N0W4	OTTHUMG00000021093	ENST00000381095.3:c.754G>T	X.37:g.5827152C>A	ENSP00000370485:p.Gly252Cys					NLGN4X_uc004crp.2_Missense_Mutation_p.G272C|NLGN4X_uc004crq.2_Missense_Mutation_p.G252C|NLGN4X_uc010ndi.2_Missense_Mutation_p.G289C|NLGN4X_uc004crr.2_Missense_Mutation_p.G252C|NLGN4X_uc010ndj.2_Missense_Mutation_p.G252C	p.G252C	NM_181332	NP_851849	Q8N0W4	NLGNX_HUMAN			4	1255	-			252			Extracellular (Potential).		Q6UX10|Q9ULG0	Missense_Mutation	SNP	ENST00000381095.3	37	c.754G>T	CCDS14126.1	.	.	.	.	.	.	.	.	.	.	C	17.40	3.379815	0.61845	.	.	ENSG00000146938	ENST00000381095;ENST00000381093;ENST00000275857;ENST00000381092;ENST00000538097	D;D;D;D;D	0.97888	-4.59;-4.59;-4.59;-4.59;-4.59	3.48	3.48	0.39840	Carboxylesterase, type B (1);	.	.	.	.	D	0.99336	0.9767	H	0.99740	4.74	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.98036	1.0379	9	0.87932	D	0	.	13.8719	0.63624	0.0:1.0:0.0:0.0	.	309;252;272	A6NMU8;Q8N0W4;Q8N0W4-2	.;NLGNX_HUMAN;.	C	252;272;252;252;252	ENSP00000370485:G252C;ENSP00000370483:G272C;ENSP00000275857:G252C;ENSP00000370482:G252C;ENSP00000439203:G252C	ENSP00000275857:G252C	G	-	1	0	NLGN4X	5837152	1.000000	0.71417	0.931000	0.37212	0.452000	0.32318	6.648000	0.74359	1.508000	0.48769	0.600000	0.82982	GGC		0.577	NLGN4X-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055673.1	NM_020742		5	47	1	0	0.00307968	0.00308	0.00323014	5	47				
MID1	4281	broad.mit.edu	37	X	10423046	10423046	+	Missense_Mutation	SNP	C	C	G			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chrX:10423046C>G	ENST00000317552.4	-	9	1919	c.1519G>C	c.(1519-1521)Gaa>Caa	p.E507Q	MID1_ENST00000380787.1_Missense_Mutation_p.E507Q|MID1_ENST00000380779.1_Missense_Mutation_p.E507Q|MID1_ENST00000380780.1_Missense_Mutation_p.E507Q|MID1_ENST00000380785.1_Missense_Mutation_p.E507Q|MID1_ENST00000479925.1_5'UTR|MID1_ENST00000453318.2_Missense_Mutation_p.E507Q|MID1_ENST00000380782.2_Missense_Mutation_p.E507Q	NM_000381.3|NM_033289.1	NP_000372.1|NP_150631.1	O15344	TRI18_HUMAN	midline 1	507	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				microtubule cytoskeleton organization (GO:0000226)|negative regulation of microtubule depolymerization (GO:0007026)|pattern specification process (GO:0007389)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein localization to microtubule (GO:0035372)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	ligase activity (GO:0016874)|microtubule binding (GO:0008017)|phosphoprotein binding (GO:0051219)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	26						TCATCACGTTCTACTGTCAAG	0.438																																							uc004cte.3		NA																	0				ovary(2)|pancreas(1)	3						c.(1519-1521)GAA>CAA		midline 1							195.0	140.0	159.0					X																	10423046		2203	4300	6503	SO:0001583	missense	4281				microtubule cytoskeleton organization|pattern specification process|positive regulation of stress-activated MAPK cascade	cytoplasm|microtubule|microtubule associated complex|spindle	ligase activity|ubiquitin protein ligase binding|zinc ion binding	g.chrX:10423046C>G	Y13667	CCDS14138.1, CCDS75952.1, CCDS75953.1	Xp22	2014-06-18	2014-06-18		ENSG00000101871	ENSG00000101871		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"", ""Fibronectin type III domain containing"""	7095	protein-coding gene	gene with protein product	"""Opitz/BBB syndrome"""	300552				9354791, 9425238	Standard	NM_001098624		Approved	OS, FXY, TRIM18, RNF59	uc004cti.4	O15344	OTTHUMG00000021127	ENST00000317552.4:c.1519G>C	X.37:g.10423046C>G	ENSP00000312678:p.Glu507Gln					MID1_uc004ctd.3_Missense_Mutation_p.E218Q|MID1_uc004ctg.3_Missense_Mutation_p.E507Q|MID1_uc004cth.3_Missense_Mutation_p.E469Q|MID1_uc004ctk.3_Missense_Mutation_p.E507Q|MID1_uc004cti.3_Missense_Mutation_p.E507Q|MID1_uc004ctj.3_Missense_Mutation_p.E507Q|MID1_uc011mie.1_RNA|MID1_uc004csz.3_Missense_Mutation_p.E179Q|MID1_uc004cta.3_Missense_Mutation_p.E263Q|MID1_uc004ctb.3_Missense_Mutation_p.E167Q|MID1_uc004ctc.3_Missense_Mutation_p.E274Q	p.E507Q	NM_033290	NP_150632	O15344	TRI18_HUMAN			9	1710	-			507			B30.2/SPRY.		B2RCG2|O75361|Q9BZX5	Missense_Mutation	SNP	ENST00000317552.4	37	c.1519G>C	CCDS14138.1	.	.	.	.	.	.	.	.	.	.	C	32	5.174737	0.94807	.	.	ENSG00000101871	ENST00000453318;ENST00000317552;ENST00000380785;ENST00000380779;ENST00000380787;ENST00000380780;ENST00000380782;ENST00000454373	T;T;T;T;T;T;T	0.10573	2.86;2.86;2.86;2.86;2.86;2.86;2.86	5.76	5.76	0.90799	Concanavalin A-like lectin/glucanase (1);SPRY-associated (1);B30.2/SPRY domain (1);	0.000000	0.85682	D	0.000000	T	0.34745	0.0908	M	0.71581	2.175	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.998	D;D;D	0.72982	0.979;0.949;0.979	T	0.02512	-1.1148	10	0.59425	D	0.04	.	19.0241	0.92926	0.0:1.0:0.0:0.0	.	507;507;457	A8K5A0;O15344;B4DLX8	.;TRI18_HUMAN;.	Q	507;507;507;507;507;507;507;457	ENSP00000414521:E507Q;ENSP00000312678:E507Q;ENSP00000370162:E507Q;ENSP00000370156:E507Q;ENSP00000370164:E507Q;ENSP00000370157:E507Q;ENSP00000370159:E507Q	ENSP00000312678:E507Q	E	-	1	0	MID1	10383046	1.000000	0.71417	0.998000	0.56505	0.988000	0.76386	7.332000	0.79203	2.442000	0.82660	0.600000	0.82982	GAA		0.438	MID1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055738.1			28	52	0	0	0	0.003271	0	28	52				
MID1	4281	broad.mit.edu	37	X	10442753	10442753	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chrX:10442753G>T	ENST00000317552.4	-	6	1451	c.1051C>A	c.(1051-1053)Cct>Act	p.P351T	MID1_ENST00000380787.1_Missense_Mutation_p.P351T|MID1_ENST00000380779.1_Missense_Mutation_p.P351T|MID1_ENST00000380780.1_Missense_Mutation_p.P351T|MID1_ENST00000380785.1_Missense_Mutation_p.P351T|MID1_ENST00000453318.2_Missense_Mutation_p.P351T|MID1_ENST00000380782.2_Missense_Mutation_p.P351T	NM_000381.3|NM_033289.1	NP_000372.1|NP_150631.1	O15344	TRI18_HUMAN	midline 1	351	COS. {ECO:0000255|PROSITE- ProRule:PRU00586}.				microtubule cytoskeleton organization (GO:0000226)|negative regulation of microtubule depolymerization (GO:0007026)|pattern specification process (GO:0007389)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein localization to microtubule (GO:0035372)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	ligase activity (GO:0016874)|microtubule binding (GO:0008017)|phosphoprotein binding (GO:0051219)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	26						TTGATTTCAGGAATTAGAACC	0.393																																							uc004cte.3		NA																	0				ovary(2)|pancreas(1)	3						c.(1051-1053)CCT>ACT		midline 1							117.0	108.0	111.0					X																	10442753		2203	4300	6503	SO:0001583	missense	4281				microtubule cytoskeleton organization|pattern specification process|positive regulation of stress-activated MAPK cascade	cytoplasm|microtubule|microtubule associated complex|spindle	ligase activity|ubiquitin protein ligase binding|zinc ion binding	g.chrX:10442753G>T	Y13667	CCDS14138.1, CCDS75952.1, CCDS75953.1	Xp22	2014-06-18	2014-06-18		ENSG00000101871	ENSG00000101871		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"", ""Fibronectin type III domain containing"""	7095	protein-coding gene	gene with protein product	"""Opitz/BBB syndrome"""	300552				9354791, 9425238	Standard	NM_001098624		Approved	OS, FXY, TRIM18, RNF59	uc004cti.4	O15344	OTTHUMG00000021127	ENST00000317552.4:c.1051C>A	X.37:g.10442753G>T	ENSP00000312678:p.Pro351Thr					MID1_uc004ctd.3_Missense_Mutation_p.P62T|MID1_uc004ctg.3_Missense_Mutation_p.P351T|MID1_uc004cth.3_Missense_Mutation_p.P313T|MID1_uc004ctk.3_Missense_Mutation_p.P351T|MID1_uc004cti.3_Missense_Mutation_p.P351T|MID1_uc004ctj.3_Missense_Mutation_p.P351T|MID1_uc011mie.1_RNA|MID1_uc004ctm.1_Missense_Mutation_p.P402T|MID1_uc004ctn.1_Missense_Mutation_p.P351T|MID1_uc004cto.1_Missense_Mutation_p.P313T|MID1_uc010ndw.1_Missense_Mutation_p.P62T|MID1_uc004cts.1_Missense_Mutation_p.P118T|MID1_uc004csz.3_Missense_Mutation_p.P23T|MID1_uc004cta.3_Missense_Mutation_p.P107T|MID1_uc004ctb.3_Missense_Mutation_p.P11T|MID1_uc004ctc.3_Missense_Mutation_p.P118T|MID1_uc004ctl.1_Missense_Mutation_p.P107T|MID1_uc004ctp.1_RNA|MID1_uc004ctq.1_Missense_Mutation_p.P118T|MID1_uc004ctr.1_Missense_Mutation_p.P118T|MID1_uc010ndu.1_Missense_Mutation_p.P118T|MID1_uc010ndv.1_Missense_Mutation_p.P62T	p.P351T	NM_033290	NP_150632	O15344	TRI18_HUMAN			6	1242	-			351			COS.		B2RCG2|O75361|Q9BZX5	Missense_Mutation	SNP	ENST00000317552.4	37	c.1051C>A	CCDS14138.1	.	.	.	.	.	.	.	.	.	.	G	27.8	4.861557	0.91433	.	.	ENSG00000101871	ENST00000453318;ENST00000317552;ENST00000380785;ENST00000380779;ENST00000380787;ENST00000380780;ENST00000380782;ENST00000454373;ENST00000413894	T;T;T;T;T;T;T;T	0.56103	0.48;0.48;0.48;0.48;0.48;0.48;0.92;0.92	5.96	5.96	0.96718	COS domain (1);	0.000000	0.85682	D	0.000000	T	0.67211	0.2869	M	0.68593	2.085	0.80722	D	1	P;B;D	0.53462	0.928;0.212;0.96	P;B;P	0.55260	0.672;0.065;0.772	T	0.65990	-0.6034	10	0.44086	T	0.13	.	19.314	0.94204	0.0:0.0:1.0:0.0	.	351;351;301	A8K5A0;O15344;B4DLX8	.;TRI18_HUMAN;.	T	351;351;351;351;351;351;351;301;351	ENSP00000414521:P351T;ENSP00000312678:P351T;ENSP00000370162:P351T;ENSP00000370156:P351T;ENSP00000370164:P351T;ENSP00000370157:P351T;ENSP00000370159:P351T;ENSP00000391154:P351T	ENSP00000312678:P351T	P	-	1	0	MID1	10402753	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.241000	0.95402	2.513000	0.84729	0.600000	0.82982	CCT		0.393	MID1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055738.1			20	71	1	0	1.9806e-07	0.002299	2.29177e-07	20	71				
GLRA2	2742	broad.mit.edu	37	X	14599452	14599452	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chrX:14599452G>T	ENST00000218075.4	+	4	948	c.418G>T	c.(418-420)Gcc>Tcc	p.A140S	GLRA2_ENST00000355020.4_Missense_Mutation_p.A140S|GLRA2_ENST00000443437.2_Missense_Mutation_p.A51S	NM_002063.3	NP_002054.1	P23416	GLRA2_HUMAN	glycine receptor, alpha 2	140					chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|neuropeptide signaling pathway (GO:0007218)|synapse assembly (GO:0007416)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	extracellular-glycine-gated chloride channel activity (GO:0016934)|glycine binding (GO:0016594)|transmitter-gated ion channel activity (GO:0022824)			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(22)|ovary(1)|prostate(1)|skin(2)	37	Hepatocellular(33;0.128)				Ethanol(DB00898)|Glycine(DB00145)|Lindane(DB00431)	TGAGAAGGGTGCCAACTTCCA	0.483																																							uc010nep.2		NA																	0				ovary(1)|lung(1)	2						c.(418-420)GCC>TCC		glycine receptor, alpha 2 isoform A	Ethanol(DB00898)|Glycine(DB00145)						164.0	136.0	145.0					X																	14599452		2203	4300	6503	SO:0001583	missense	2742				neuropeptide signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity	g.chrX:14599452G>T		CCDS14160.1, CCDS48085.1, CCDS55371.1	Xp22.2	2012-02-07			ENSG00000101958	ENSG00000101958		"""Ligand-gated ion channels / Glycine receptors"""	4327	protein-coding gene	gene with protein product		305990		GLR			Standard	NM_002063		Approved		uc010nep.3	P23416	OTTHUMG00000021166	ENST00000218075.4:c.418G>T	X.37:g.14599452G>T	ENSP00000218075:p.Ala140Ser					GLRA2_uc010neq.2_Missense_Mutation_p.A140S|GLRA2_uc004cwe.3_Missense_Mutation_p.A140S|GLRA2_uc011mio.1_Missense_Mutation_p.A51S|GLRA2_uc011mip.1_Missense_Mutation_p.A118S	p.A140S	NM_001118885	NP_001112357	P23416	GLRA2_HUMAN			5	750	+	Hepatocellular(33;0.128)		140			Extracellular (Probable).		A8K0J6|B2R6I8|B7Z4F5|J3KQ59|Q53YX7|Q6ICQ0|Q99862	Missense_Mutation	SNP	ENST00000218075.4	37	c.418G>T	CCDS14160.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.632156	0.87660	.	.	ENSG00000101958	ENST00000443437;ENST00000218075;ENST00000355020;ENST00000415367	T;T;T;T	0.78246	-1.16;-1.16;-1.16;-1.16	5.64	4.78	0.61160	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.85682	D	0.000000	T	0.78704	0.4325	L	0.33668	1.02	0.80722	D	1	D;D;P	0.89917	1.0;0.992;0.87	D;D;P	0.91635	0.999;0.983;0.676	T	0.73927	-0.3828	10	0.02654	T	1	.	13.6401	0.62246	0.076:0.0:0.924:0.0	.	124;140;140	B7Z4E9;P23416;P23416-2	.;GLRA2_HUMAN;.	S	51;140;140;124	ENSP00000387756:A51S;ENSP00000218075:A140S;ENSP00000347123:A140S;ENSP00000391606:A124S	ENSP00000218075:A140S	A	+	1	0	GLRA2	14509373	1.000000	0.71417	0.970000	0.41538	0.909000	0.53808	9.715000	0.98748	1.145000	0.42336	0.600000	0.82982	GCC		0.483	GLRA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055829.1			49	56	1	0	4.09106e-26	0.00361	6.16102e-26	49	56				
ACE2	59272	broad.mit.edu	37	X	15599456	15599456	+	Missense_Mutation	SNP	G	G	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chrX:15599456G>A	ENST00000252519.3	-	8	1060	c.958C>T	c.(958-960)Ctt>Ttt	p.L320F	ACE2_ENST00000427411.1_Missense_Mutation_p.L320F			Q9BYF1	ACE2_HUMAN	angiotensin I converting enzyme 2	320					angiotensin catabolic process in blood (GO:0002005)|angiotensin maturation (GO:0002003)|angiotensin-mediated drinking behavior (GO:0003051)|cellular protein metabolic process (GO:0044267)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|receptor biosynthetic process (GO:0032800)|receptor-mediated virion attachment to host cell (GO:0046813)|regulation of cell proliferation (GO:0042127)|regulation of cytokine production (GO:0001817)|regulation of inflammatory response (GO:0050727)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)|regulation of vasoconstriction (GO:0019229)|regulation of vasodilation (GO:0042312)|response to virus (GO:0009615)|viral entry into host cell (GO:0046718)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	carboxypeptidase activity (GO:0004180)|endopeptidase activity (GO:0004175)|glycoprotein binding (GO:0001948)|peptide hormone binding (GO:0017046)|virus receptor activity (GO:0001618)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	32	Hepatocellular(33;0.183)				Lisinopril(DB00722)|Moexipril(DB00691)	ATATTAGGAAGACCAACAGAT	0.458																																							uc004cxa.1		NA																	0				ovary(3)	3						c.(958-960)CTT>TTT		angiotensin I converting enzyme 2 precursor	Moexipril(DB00691)						133.0	122.0	126.0					X																	15599456		2203	4300	6503	SO:0001583	missense	59272				angiotensin-mediated drinking behavior|proteolysis|receptor biosynthetic process|regulation of cell proliferation|virion attachment, binding of host cell surface receptor	cell surface|extracellular space|integral to membrane|membrane raft|plasma membrane	carboxypeptidase activity|glycoprotein binding|metallopeptidase activity|peptidyl-dipeptidase activity|viral receptor activity|zinc ion binding	g.chrX:15599456G>A	AF291820	CCDS14169.1	Xp22	2013-06-12	2013-06-12		ENSG00000130234	ENSG00000130234	3.4.17.23		13557	protein-coding gene	gene with protein product	"""peptidyl-dipeptidase A"""	300335	"""angiotensin I converting enzyme (peptidyl-dipeptidase A) 2"""			10969042	Standard	NM_021804		Approved		uc004cxb.2	Q9BYF1	OTTHUMG00000021177	ENST00000252519.3:c.958C>T	X.37:g.15599456G>A	ENSP00000252519:p.Leu320Phe					ACE2_uc004cxb.2_Missense_Mutation_p.L320F	p.L320F	NM_021804	NP_068576	Q9BYF1	ACE2_HUMAN			8	1126	-	Hepatocellular(33;0.183)		320			Extracellular (Potential).		C7ECU1|Q6UWP0|Q86WT0|Q9NRA7|Q9UFZ6	Missense_Mutation	SNP	ENST00000252519.3	37	c.958C>T	CCDS14169.1	.	.	.	.	.	.	.	.	.	.	G	17.35	3.368478	0.61513	.	.	ENSG00000130234	ENST00000252519;ENST00000427411	T;T	0.43688	0.94;0.94	5.62	5.62	0.85841	.	0.247996	0.35207	N	0.003364	T	0.65322	0.2680	M	0.66939	2.045	0.41598	D	0.988834	D	0.89917	1.0	D	0.83275	0.996	T	0.68640	-0.5355	10	0.87932	D	0	-13.0071	18.6684	0.91501	0.0:0.0:1.0:0.0	.	320	Q9BYF1	ACE2_HUMAN	F	320	ENSP00000252519:L320F;ENSP00000389326:L320F	ENSP00000252519:L320F	L	-	1	0	ACE2	15509377	1.000000	0.71417	0.315000	0.25238	0.282000	0.26991	7.695000	0.84257	2.353000	0.79882	0.594000	0.82650	CTT		0.458	ACE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055867.1			28	97	0	0	0	0.002445	0	28	97				
PTCHD1	139411	broad.mit.edu	37	X	23398254	23398254	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chrX:23398254G>T	ENST00000379361.4	+	2	1758	c.898G>T	c.(898-900)Ggc>Tgc	p.G300C		NM_173495.2	NP_775766.2	Q96NR3	PTHD1_HUMAN	patched domain containing 1	300	SSD. {ECO:0000255|PROSITE- ProRule:PRU00199}.				cognition (GO:0050890)|smoothened signaling pathway (GO:0007224)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hedgehog receptor activity (GO:0008158)			NS(1)|breast(4)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(4)|skin(2)|urinary_tract(2)	42						ACCCTGGCTAGGCCTGCTCGG	0.547																																							uc004dal.3		NA																	0				ovary(4)|kidney(1)|skin(1)	6						c.(898-900)GGC>TGC		patched domain containing 1							114.0	100.0	105.0					X																	23398254		2203	4300	6503	SO:0001583	missense	139411				cognition|smoothened signaling pathway	integral to membrane|plasma membrane	hedgehog receptor activity	g.chrX:23398254G>T	AK054858	CCDS35215.2	Xp22.13	2008-02-05			ENSG00000165186	ENSG00000165186			26392	protein-coding gene	gene with protein product		300828					Standard	NM_173495		Approved	FLJ30296	uc004dal.4	Q96NR3	OTTHUMG00000021251	ENST00000379361.4:c.898G>T	X.37:g.23398254G>T	ENSP00000368666:p.Gly300Cys					PTCHD1_uc010nfu.1_Missense_Mutation_p.G300C	p.G300C	NM_173495	NP_775766	Q96NR3	PTHD1_HUMAN			2	906	+			300			Helical; (Potential).|SSD.		B4DQH0|Q0IJ60|Q6P6B8	Missense_Mutation	SNP	ENST00000379361.4	37	c.898G>T	CCDS35215.2	.	.	.	.	.	.	.	.	.	.	G	22.1	4.239109	0.79800	.	.	ENSG00000165186	ENST00000379361	D	0.85484	-1.99	4.96	4.96	0.65561	Sterol-sensing domain (1);	0.000000	0.85682	D	0.000000	D	0.91580	0.7340	M	0.67700	2.07	0.80722	D	1	D;D	0.89917	1.0;0.994	D;D	0.97110	1.0;0.987	D	0.92507	0.6013	10	0.87932	D	0	.	17.6227	0.88086	0.0:0.0:1.0:0.0	.	195;300	Q96NR3-3;Q96NR3	.;PTHD1_HUMAN	C	300	ENSP00000368666:G300C	ENSP00000368666:G300C	G	+	1	0	PTCHD1	23308175	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.208000	0.95075	2.435000	0.82474	0.600000	0.82982	GGC		0.547	PTCHD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056047.2	NM_173495		25	92	1	0	3.73988e-18	0.00632	5.26296e-18	25	92				
POLA1	5422	broad.mit.edu	37	X	24735405	24735405	+	Splice_Site	SNP	A	A	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chrX:24735405A>T	ENST00000379059.3	+	9	703		c.e9-1		POLA1_ENST00000379068.3_Splice_Site	NM_016937.3	NP_058633.2	P09884	DPOLA_HUMAN	polymerase (DNA directed), alpha 1, catalytic subunit						cell proliferation (GO:0008283)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA replication, synthesis of RNA primer (GO:0006269)|DNA strand elongation involved in DNA replication (GO:0006271)|double-strand break repair via nonhomologous end joining (GO:0006303)|G1/S transition of mitotic cell cycle (GO:0000082)|lagging strand elongation (GO:0006273)|leading strand elongation (GO:0006272)|mitotic cell cycle (GO:0000278)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|translesion synthesis (GO:0019985)|viral process (GO:0016032)	alpha DNA polymerase:primase complex (GO:0005658)|cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleoside binding (GO:0001882)|nucleotide binding (GO:0000166)|protein kinase binding (GO:0019901)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|ovary(2)|skin(2)	11					Cladribine(DB00242)|Clofarabine(DB00631)|Fludarabine(DB01073)|Nelarabine(DB01280)	TGATGCCTACAGGCGATGATG	0.463																																							uc004dbl.2		NA																	0				ovary(2)|skin(1)	3						c.e9-2		DNA-directed DNA polymerase alpha 1	Clofarabine(DB00631)|Fludarabine(DB01073)						98.0	76.0	83.0					X																	24735405		2203	4300	6503	SO:0001630	splice_region_variant	5422				cell proliferation|DNA replication checkpoint|DNA replication, synthesis of RNA primer|DNA-dependent DNA replication initiation|double-strand break repair via nonhomologous end joining|interspecies interaction between organisms|lagging strand elongation|leading strand elongation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|cytoplasm|nuclear envelope|nuclear matrix|nucleolus|nucleoplasm	chromatin binding|DNA-directed DNA polymerase activity|metal ion binding|nucleoside binding	g.chrX:24735405A>T		CCDS14214.1	Xp22.1-p21.3	2014-01-30	2008-08-07	2006-09-26	ENSG00000101868	ENSG00000101868	2.7.7.7	"""DNA polymerases"""	9173	protein-coding gene	gene with protein product		312040	"""polymerase (DNA directed), alpha"", ""polymerase (DNA directed), alpha 1"", ""N syndrome (mental retardation, malformations, chromosome breakage)"""	POLA, NSX		1689958	Standard	NM_016937		Approved	p180	uc004dbl.3	P09884	OTTHUMG00000021277	ENST00000379059.3:c.689-1A>T	X.37:g.24735405A>T						POLA1_uc004dbm.2_Splice_Site_p.G236_splice|POLA1_uc004dbn.2_Splice_Site_p.G94_splice	p.G230_splice	NM_016937	NP_058633	P09884	DPOLA_HUMAN			9	712	+								Q86UQ7	Splice_Site	SNP	ENST00000379059.3	37	c.689_splice	CCDS14214.1	.	.	.	.	.	.	.	.	.	.	A	13.75	2.330072	0.41297	.	.	ENSG00000101868	ENST00000379068;ENST00000379059	.	.	.	4.61	4.61	0.57282	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.8869	0.46972	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	POLA1	24645326	0.995000	0.38212	0.626000	0.29213	0.040000	0.13550	4.812000	0.62613	1.704000	0.51252	0.345000	0.21793	.		0.463	POLA1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000056111.1	NM_016937	Intron	10	46	0	0	0	0.00245	0	10	46				
IL1RAPL1	11141	broad.mit.edu	37	X	29938085	29938085	+	Missense_Mutation	SNP	G	G	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chrX:29938085G>A	ENST00000378993.1	+	8	1604	c.931G>A	c.(931-933)Ggg>Agg	p.G311R	IL1RAPL1_ENST00000302196.4_Missense_Mutation_p.G311R	NM_014271.3	NP_055086.1	Q9NZN1	IRPL1_HUMAN	interleukin 1 receptor accessory protein-like 1	311	Ig-like C2-type 3.				calcium ion transmembrane transport (GO:0070588)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of exocytosis (GO:0045920)|neuron differentiation (GO:0030182)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|regulation of neuron projection development (GO:0010975)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	receptor binding (GO:0005102)|voltage-gated calcium channel activity (GO:0005245)			biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						GGAGCATCTTGGGGAACAGGA	0.368																																							uc004dby.2		NA																	0				ovary(3)|lung(1)|pancreas(1)	5						c.(931-933)GGG>AGG		interleukin 1 receptor accessory protein-like 1							203.0	173.0	183.0					X																	29938085		2202	4300	6502	SO:0001583	missense	11141				innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development	cytoplasm|integral to membrane|plasma membrane	protein binding|transmembrane receptor activity	g.chrX:29938085G>A	AJ243874	CCDS14218.1	Xp22.1-p21.3	2013-01-29	2004-02-13		ENSG00000169306	ENSG00000169306		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5996	protein-coding gene	gene with protein product		300206	"""mental retardation, X-linked 34"", ""mental retardation, X-linked 21"", ""mental retardation, X-linked 10"""	IL1RAPL, MRX34, MRX21, MRX10		10471494, 10757639	Standard	NM_014271		Approved	OPHN4, TIGIRR-2, IL1R8	uc004dby.2	Q9NZN1	OTTHUMG00000021317	ENST00000378993.1:c.931G>A	X.37:g.29938085G>A	ENSP00000368278:p.Gly311Arg						p.G311R	NM_014271	NP_055086	Q9NZN1	IRPL1_HUMAN			8	1439	+			311			Extracellular (Potential).|Ig-like C2-type 3.		A0AVG4|Q9UJ53	Missense_Mutation	SNP	ENST00000378993.1	37	c.931G>A	CCDS14218.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.510198	0.85282	.	.	ENSG00000169306	ENST00000378993;ENST00000302196	T;T	0.13307	2.6;2.6	5.91	5.91	0.95273	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.050013	0.85682	D	0.000000	T	0.41903	0.1179	M	0.76838	2.35	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.14420	-1.0473	9	.	.	.	.	19.2812	0.94053	0.0:0.0:1.0:0.0	.	311	Q9NZN1	IRPL1_HUMAN	R	311	ENSP00000368278:G311R;ENSP00000305200:G311R	.	G	+	1	0	IL1RAPL1	29848006	1.000000	0.71417	1.000000	0.80357	0.895000	0.52256	9.476000	0.97823	2.505000	0.84491	0.523000	0.50628	GGG		0.368	IL1RAPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056155.1	NM_014271		15	71	0	0	0	0.008871	0	15	71				
DMD	1756	broad.mit.edu	37	X	31196064	31196064	+	Missense_Mutation	SNP	C	C	A	rs201217593		TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chrX:31196064C>A	ENST00000357033.4	-	71	10453	c.10247G>T	c.(10246-10248)tGg>tTg	p.W3416L	DMD_ENST00000378723.3_Missense_Mutation_p.W348L|DMD_ENST00000361471.4_Intron|DMD_ENST00000359836.1_Intron|DMD_ENST00000378680.2_Intron|DMD_ENST00000343523.2_Intron|DMD_ENST00000378702.4_Missense_Mutation_p.W348L|DMD_ENST00000378707.3_Missense_Mutation_p.W956L|DMD_ENST00000378677.2_Missense_Mutation_p.W3412L|DMD_ENST00000541735.1_Intron|DMD_ENST00000474231.1_Missense_Mutation_p.W956L	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	3416					cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				ATCTACTGGCCAGAAGTTGAT	0.418																																							uc004dda.1		NA																	0				ovary(3)|pancreas(2)|large_intestine(1)	6						c.(10246-10248)TGG>TTG		dystrophin Dp427m isoform							94.0	83.0	87.0					X																	31196064		2202	4299	6501	SO:0001583	missense	1756				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chrX:31196064C>A	AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"""muscular dystrophy, Duchenne and Becker types"""	300377	"""dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272"", ""mental retardation, X-linked 85"""	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.10247G>T	X.37:g.31196064C>A	ENSP00000354923:p.Trp3416Leu					DMD_uc004dcq.1_Missense_Mutation_p.W687L|DMD_uc004dcr.1_Intron|DMD_uc004dcs.1_Intron|DMD_uc004dct.1_Missense_Mutation_p.W956L|DMD_uc004dcu.1_Missense_Mutation_p.W956L|DMD_uc004dcv.1_Intron|DMD_uc004dcw.2_Missense_Mutation_p.W2072L|DMD_uc004dcx.2_Missense_Mutation_p.W2075L|DMD_uc004dcz.2_Missense_Mutation_p.W3293L|DMD_uc004dcy.1_Missense_Mutation_p.W3412L|DMD_uc004ddb.1_Missense_Mutation_p.W3408L|DMD_uc004dcm.1_Missense_Mutation_p.W348L|DMD_uc004dcn.1_Intron|DMD_uc004dco.1_Missense_Mutation_p.W348L|DMD_uc004dcp.1_Intron|DMD_uc011mkb.1_Intron	p.W3416L	NM_004006	NP_003997	P11532	DMD_HUMAN			71	10491	-		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)	3416					E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP	ENST00000357033.4	37	c.10247G>T	CCDS14233.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.529551	0.85706	.	.	ENSG00000198947	ENST00000534884;ENST00000378682;ENST00000378684;ENST00000378723;ENST00000378677;ENST00000357033;ENST00000542849;ENST00000535280;ENST00000378707;ENST00000378702;ENST00000474231;ENST00000378705	D;D;D;D;D;D;D	0.82526	-1.62;-1.62;-1.62;-1.62;-1.62;-1.62;-1.62	4.93	4.93	0.64822	.	0.000000	0.30850	U	0.008742	D	0.87791	0.6266	L	0.51422	1.61	0.80722	D	1	P;D;D;P;P;B;P;D;B;B	0.63880	0.866;0.993;0.993;0.779;0.779;0.167;0.81;0.992;0.091;0.009	P;P;P;B;B;B;B;P;B;B	0.61397	0.655;0.777;0.777;0.367;0.367;0.066;0.23;0.888;0.04;0.01	D	0.89036	0.3445	10	0.72032	D	0.01	.	17.5514	0.87876	0.0:1.0:0.0:0.0	.	3408;3416;3412;2075;2072;956;956;3293;348;348	P11532-4;P11532;E9PDN5;E7EQS7;E7EQS6;E7ESB2;E7EQS5;F5GZT3;Q8N754;E9PDN1	.;DMD_HUMAN;.;.;.;.;.;.;.;.	L	3408;2075;2072;348;3412;3416;3416;3293;956;348;956;206	ENSP00000367997:W348L;ENSP00000367948:W3412L;ENSP00000354923:W3416L;ENSP00000367979:W956L;ENSP00000367974:W348L;ENSP00000417123:W956L;ENSP00000367977:W206L	ENSP00000354923:W3416L	W	-	2	0	DMD	31105985	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.085000	0.76875	2.417000	0.82017	0.594000	0.82650	TGG		0.418	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006		6	26	1	0	3.09899e-07	0.004482	3.55731e-07	6	26				
DMD	1756	broad.mit.edu	37	X	31496470	31496470	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chrX:31496470G>T	ENST00000357033.4	-	59	8896	c.8690C>A	c.(8689-8691)gCc>gAc	p.A2897D	DMD_ENST00000541735.1_Missense_Mutation_p.A437D|DMD_ENST00000359836.1_Missense_Mutation_p.A437D|DMD_ENST00000474231.1_Missense_Mutation_p.A437D|DMD_ENST00000343523.2_Missense_Mutation_p.A437D|DMD_ENST00000445312.1_5'UTR|DMD_ENST00000378707.3_Missense_Mutation_p.A437D|DMD_ENST00000378677.2_Missense_Mutation_p.A2893D	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	2897					cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				GACATTCTGGGCTCTCTCCTC	0.433																																							uc004dda.1		NA																	0				ovary(3)|pancreas(2)|large_intestine(1)	6						c.(8689-8691)GCC>GAC		dystrophin Dp427m isoform							68.0	66.0	67.0					X																	31496470		2202	4300	6502	SO:0001583	missense	1756				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chrX:31496470G>T	AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"""muscular dystrophy, Duchenne and Becker types"""	300377	"""dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272"", ""mental retardation, X-linked 85"""	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.8690C>A	X.37:g.31496470G>T	ENSP00000354923:p.Ala2897Asp					DMD_uc004dcq.1_Missense_Mutation_p.A168D|DMD_uc004dcr.1_Missense_Mutation_p.A437D|DMD_uc004dcs.1_Missense_Mutation_p.A437D|DMD_uc004dct.1_Missense_Mutation_p.A437D|DMD_uc004dcu.1_Missense_Mutation_p.A437D|DMD_uc004dcv.1_Missense_Mutation_p.A437D|DMD_uc004dcw.2_Missense_Mutation_p.A1553D|DMD_uc004dcx.2_Missense_Mutation_p.A1556D|DMD_uc004dcz.2_Missense_Mutation_p.A2774D|DMD_uc004dcy.1_Missense_Mutation_p.A2893D|DMD_uc004ddb.1_Missense_Mutation_p.A2889D	p.A2897D	NM_004006	NP_003997	P11532	DMD_HUMAN			59	8934	-		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)	2897			Spectrin 20.		E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP	ENST00000357033.4	37	c.8690C>A	CCDS14233.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.92|18.92	3.725516|3.725516	0.68959|0.68959	.|.	.|.	ENSG00000198947|ENSG00000198947	ENST00000534884;ENST00000378682;ENST00000378684;ENST00000358062;ENST00000378677;ENST00000357033;ENST00000359836;ENST00000343523;ENST00000542849;ENST00000535280;ENST00000378707;ENST00000541735;ENST00000474231|ENST00000465285	T;T;T;T;T;T;T;T|.	0.64803|.	3.81;-0.12;-0.12;3.78;3.78;3.77;3.76;3.82|.	5.4|5.4	4.53|4.53	0.55603|0.55603	.|.	0.000000|.	0.36815|.	U|.	0.002399|.	T|T	0.64505|0.64505	0.2604|0.2604	M|M	0.69358|0.69358	2.11|2.11	0.40675|0.40675	D|D	0.982257|0.982257	B;D;D;D;D;P;P;P;D;D;D|.	0.67145|.	0.244;0.976;0.989;0.976;0.976;0.896;0.568;0.568;0.991;0.995;0.996|.	B;P;P;P;P;P;B;B;P;P;D|.	0.66602|.	0.421;0.559;0.768;0.559;0.559;0.861;0.311;0.234;0.69;0.836;0.945|.	T|T	0.64433|0.64433	-0.6409|-0.6409	10|5	0.37606|.	T|.	0.19|.	.|.	9.759|9.759	0.40522|0.40522	0.162:0.0:0.838:0.0|0.162:0.0:0.838:0.0	.|.	2889;2897;2893;1556;1553;437;437;437;437;437;2774|.	P11532-4;P11532;E9PDN5;E7EQS7;E7EQS6;F8VX32;E7ESB2;E7EQS5;E7EQR9;F5GZY3;F5GZT3|.	.;DMD_HUMAN;.;.;.;.;.;.;.;.;.|.	D|R	2889;1556;1553;593;2893;2897;437;437;2897;2774;437;437;437|625	ENSP00000350765:A593D;ENSP00000367948:A2893D;ENSP00000354923:A2897D;ENSP00000352894:A437D;ENSP00000340057:A437D;ENSP00000367979:A437D;ENSP00000444119:A437D;ENSP00000417123:A437D|.	ENSP00000340057:A437D|.	A|S	-|-	2|3	0|2	DMD|DMD	31406391|31406391	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.899000|0.899000	0.52679|0.52679	5.399000|5.399000	0.66314|0.66314	1.162000|1.162000	0.42619|0.42619	0.529000|0.529000	0.55759|0.55759	GCC|AGC		0.433	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006		13	57	1	0	1.45105e-14	0.006122	1.9341e-14	13	57				
DMD	1756	broad.mit.edu	37	X	32490297	32490297	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chrX:32490297C>A	ENST00000357033.4	-	22	3139	c.2933G>T	c.(2932-2934)aGa>aTa	p.R978I	DMD_ENST00000378677.2_Missense_Mutation_p.R974I	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	978					cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TTCCCCGAGTCTCTGCTCCAT	0.403																																							uc004dda.1		NA																	0				ovary(3)|pancreas(2)|large_intestine(1)	6						c.(2932-2934)AGA>ATA		dystrophin Dp427m isoform							165.0	145.0	152.0					X																	32490297		2202	4300	6502	SO:0001583	missense	1756				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chrX:32490297C>A	AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"""muscular dystrophy, Duchenne and Becker types"""	300377	"""dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272"", ""mental retardation, X-linked 85"""	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.2933G>T	X.37:g.32490297C>A	ENSP00000354923:p.Arg978Ile					DMD_uc004dcz.2_Missense_Mutation_p.R855I|DMD_uc004dcy.1_Missense_Mutation_p.R974I|DMD_uc004ddb.1_Missense_Mutation_p.R970I|DMD_uc010ngo.1_Intron	p.R978I	NM_004006	NP_003997	P11532	DMD_HUMAN			22	3177	-		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)	978			Spectrin 6.		E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP	ENST00000357033.4	37	c.2933G>T	CCDS14233.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.992225	0.74703	.	.	ENSG00000198947	ENST00000534884;ENST00000378677;ENST00000357033;ENST00000542849;ENST00000535280	T;T	0.49139	0.79;0.79	5.2	5.2	0.72013	.	0.187203	0.24859	U	0.035032	T	0.60676	0.2287	L	0.36672	1.1	0.80722	D	1	P;D;D	0.89917	0.948;1.0;0.958	P;D;P	0.78314	0.718;0.991;0.815	T	0.61382	-0.7074	10	0.48119	T	0.1	.	17.9221	0.88970	0.0:1.0:0.0:0.0	.	970;978;974	P11532-4;P11532;E9PDN5	.;DMD_HUMAN;.	I	970;974;978;978;855	ENSP00000367948:R974I;ENSP00000354923:R978I	ENSP00000354923:R978I	R	-	2	0	DMD	32400218	1.000000	0.71417	0.993000	0.49108	0.600000	0.36913	5.583000	0.67484	2.166000	0.68216	0.544000	0.68410	AGA		0.403	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006		24	114	1	0	3.73808e-20	0.005443	5.36518e-20	24	114				
DMD	1756	broad.mit.edu	37	X	32591661	32591661	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chrX:32591661G>T	ENST00000357033.4	-	15	2004	c.1798C>A	c.(1798-1800)Ctt>Att	p.L600I	DMD_ENST00000288447.4_Missense_Mutation_p.L592I|DMD_ENST00000378677.2_Missense_Mutation_p.L596I	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	600					cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				AGTTTTTGAAGACTTGATAAC	0.338																																							uc004dda.1		NA																	0				ovary(3)|pancreas(2)|large_intestine(1)	6						c.(1798-1800)CTT>ATT		dystrophin Dp427m isoform							93.0	86.0	88.0					X																	32591661		2201	4299	6500	SO:0001583	missense	1756				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chrX:32591661G>T	AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"""muscular dystrophy, Duchenne and Becker types"""	300377	"""dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272"", ""mental retardation, X-linked 85"""	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.1798C>A	X.37:g.32591661G>T	ENSP00000354923:p.Leu600Ile					DMD_uc004dcz.2_Missense_Mutation_p.L477I|DMD_uc004dcy.1_Missense_Mutation_p.L596I|DMD_uc004ddb.1_Missense_Mutation_p.L592I|DMD_uc010ngo.1_Intron|DMD_uc004ddf.2_Missense_Mutation_p.L592I|DMD_uc010ngp.1_3'UTR|DMD_uc010ngq.1_RNA	p.L600I	NM_004006	NP_003997	P11532	DMD_HUMAN			15	2042	-		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)	600			Spectrin 3.		E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP	ENST00000357033.4	37	c.1798C>A	CCDS14233.1	.	.	.	.	.	.	.	.	.	.	G	13.86	2.362140	0.41902	.	.	ENSG00000198947	ENST00000534884;ENST00000378677;ENST00000357033;ENST00000542849;ENST00000535280;ENST00000288447	T;T;T	0.44083	0.93;0.93;0.93	4.97	4.97	0.65823	.	0.000000	0.31279	U	0.007935	T	0.63331	0.2502	M	0.69823	2.125	0.80722	D	1	D;D;P;D	0.69078	0.997;0.996;0.882;0.993	D;D;P;D	0.78314	0.991;0.978;0.488;0.952	T	0.61768	-0.6995	10	0.29301	T	0.29	.	17.4299	0.87536	0.0:0.0:1.0:0.0	.	592;592;600;596	Q4G0X0;P11532-4;P11532;E9PDN5	.;.;DMD_HUMAN;.	I	592;596;600;600;477;592	ENSP00000367948:L596I;ENSP00000354923:L600I;ENSP00000288447:L592I	ENSP00000288447:L592I	L	-	1	0	DMD	32501582	1.000000	0.71417	0.741000	0.31004	0.016000	0.09150	6.094000	0.71431	2.041000	0.60428	0.538000	0.68166	CTT		0.338	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006		24	36	1	0	9.39395e-14	0.00632	1.24064e-13	24	36				
FAM47C	442444	broad.mit.edu	37	X	37028281	37028281	+	Nonsense_Mutation	SNP	G	G	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chrX:37028281G>T	ENST00000358047.3	+	1	1850	c.1798G>T	c.(1798-1800)Gag>Tag	p.E600*		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	600										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						GGAGCCCCCCGAGACTGGAGT	0.647																																							uc004ddl.1		NA																	0				ovary(3)	3						c.(1798-1800)GAG>TAG		hypothetical protein LOC442444							13.0	16.0	15.0					X																	37028281		2141	4209	6350	SO:0001587	stop_gained	442444							g.chrX:37028281G>T	AK125992	CCDS35227.1	Xp21.1	2006-07-04			ENSG00000198173	ENSG00000198173			25301	protein-coding gene	gene with protein product							Standard	NM_001013736		Approved		uc004ddl.2	Q5HY64	OTTHUMG00000024025	ENST00000358047.3:c.1798G>T	X.37:g.37028281G>T	ENSP00000367913:p.Glu600*						p.E600*	NM_001013736	NP_001013758	Q5HY64	FA47C_HUMAN			1	1812	+			600					Q6ZU46	Nonsense_Mutation	SNP	ENST00000358047.3	37	c.1798G>T	CCDS35227.1	.	.	.	.	.	.	.	.	.	.	-	16.41	3.116721	0.56505	.	.	ENSG00000198173	ENST00000358047	.	.	.	1.42	-2.85	0.05734	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07030	T	0.85	.	1.2399	0.01960	0.1952:0.2275:0.4002:0.177	.	.	.	.	X	600	.	ENSP00000367913:E600X	E	+	1	0	FAM47C	36938202	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.422000	0.01030	-1.443000	0.01953	-1.673000	0.00743	GAG		0.647	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060508.1	NM_001013736		28	35	1	0	9.8876e-21	0.004878	1.42117e-20	28	35				
XK	7504	broad.mit.edu	37	X	37587552	37587552	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chrX:37587552G>T	ENST00000378616.3	+	3	1375	c.1172G>T	c.(1171-1173)tGg>tTg	p.W391L	TM4SF2_ENST00000465127.1_Intron	NM_021083.2	NP_066569.1	P51811	XK_HUMAN	X-linked Kx blood group	391					amino acid transport (GO:0006865)|transport (GO:0006810)	integral component of membrane (GO:0016021)	transporter activity (GO:0005215)			breast(1)|endometrium(4)|large_intestine(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	15		all_lung(315;0.175)				TTTCAGAGGTGGCTCAGGTGT	0.473																																							uc004ddq.2		NA																	0					0						c.(1171-1173)TGG>TTG		membrane transport protein XK							86.0	82.0	83.0					X																	37587552		2202	4300	6502	SO:0001583	missense	7504				amino acid transport	integral to membrane	protein binding|transporter activity	g.chrX:37587552G>T	Z32684	CCDS14241.1	Xp21.1	2014-07-19	2014-06-18		ENSG00000047597	ENSG00000047597		"""Blood group antigens"""	12811	protein-coding gene	gene with protein product	"""Kx antigen"", ""McLeod syndrome"""	314850	"""Kell blood group precursor (McLeod phenotype)"", ""XK, Kell blood group complex subunit (McLeod syndrome)"", ""neuroacanthocytosis"", ""neurocanthocytosis"""	NA, NAC		8004674, 11761473	Standard	NM_021083		Approved	XKR1, Kx, X1k	uc004ddq.3	P51811	OTTHUMG00000033171	ENST00000378616.3:c.1172G>T	X.37:g.37587552G>T	ENSP00000367879:p.Trp391Leu						p.W391L	NM_021083	NP_066569	P51811	XK_HUMAN			3	1254	+		all_lung(315;0.175)	391			Cytoplasmic (Potential).		Q4TTN6|Q8IUK6|Q9UC77	Missense_Mutation	SNP	ENST00000378616.3	37	c.1172G>T	CCDS14241.1	.	.	.	.	.	.	.	.	.	.	G	0.238	-1.016173	0.02078	.	.	ENSG00000047597	ENST00000378616	T	0.61274	0.12	5.7	3.86	0.44501	.	0.400042	0.31554	N	0.007450	T	0.36799	0.0980	N	0.17082	0.46	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.16719	-1.0393	10	0.11485	T	0.65	-12.5653	11.0146	0.47681	0.0:0.1211:0.626:0.2529	.	391	P51811	XK_HUMAN	L	391	ENSP00000367879:W391L	ENSP00000367879:W391L	W	+	2	0	XK	37472491	1.000000	0.71417	0.001000	0.08648	0.136000	0.21042	4.137000	0.58010	0.522000	0.28464	0.600000	0.82982	TGG		0.473	XK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080875.1	NM_021083		25	23	1	0	2.79863e-10	0.004656	3.46481e-10	25	23				
SYTL5	94122	broad.mit.edu	37	X	37961679	37961680	+	Missense_Mutation	DNP	CT	CT	AA	rs373848830		TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	CT	CT	-	-	CT	CT	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chrX:37961679_37961680CT>AA	ENST00000357972.5	+	10	1693_1694	c.1147_1148CT>AA	c.(1147-1149)CTa>AAa	p.L383K	TM4SF2_ENST00000465127.1_Intron|SYTL5_ENST00000297875.2_Missense_Mutation_p.L383K|SYTL5_ENST00000456733.2_Missense_Mutation_p.L383K			Q8TDW5	SYTL5_HUMAN	synaptotagmin-like 5	383					exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)	membrane (GO:0016020)	metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	44						GGCAAGTGGCCTATCAACTGTA	0.406																																							uc004ddu.2		NA																	0				skin(1)	1						c.(1147-1149)CTA>AAA		synaptotagmin-like 5 isoform 1																																				SO:0001583	missense	94122				intracellular protein transport	membrane	metal ion binding|Rab GTPase binding	g.chrX:37961679_37961680CT>AA		CCDS14244.1, CCDS55399.1	Xp21.1	2008-02-05			ENSG00000147041	ENSG00000147041			15589	protein-coding gene	gene with protein product	"""exophilin 9"""						Standard	NM_138780		Approved		uc004ddx.3	Q8TDW5	OTTHUMG00000033176	Exception_encountered	X.37:g.37961679_37961680delinsAA	ENSP00000350657:p.Leu383Lys					SYTL5_uc004ddv.2_Missense_Mutation_p.L383K|SYTL5_uc004ddx.2_Missense_Mutation_p.L383K	p.L383K	NM_001163335	NP_001156807	Q8TDW5	SYTL5_HUMAN			11	1681_1682	+			383					A2RRF2	Missense_Mutation	DNP	ENST00000357972.5	37	c.1147_1148CT>AA	CCDS14244.1																																																																																				0.406	SYTL5-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080883.1	NM_138780		5	64	0	0	0	0.004672	0	5	64				
OTC	5009	broad.mit.edu	37	X	38262994	38262994	+	Splice_Site	SNP	G	G	T	rs68170503		TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chrX:38262994G>T	ENST00000039007.4	+	6	815		c.e6+1		TM4SF2_ENST00000465127.1_Intron	NM_000531.5	NP_000522.3	P00480	OTC_HUMAN	ornithine carbamoyltransferase						ammonia homeostasis (GO:0097272)|arginine biosynthetic process (GO:0006526)|cellular nitrogen compound metabolic process (GO:0034641)|citrulline biosynthetic process (GO:0019240)|liver development (GO:0001889)|midgut development (GO:0007494)|ornithine catabolic process (GO:0006593)|protein homotrimerization (GO:0070207)|response to biotin (GO:0070781)|response to drug (GO:0042493)|response to insulin (GO:0032868)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)|urea cycle (GO:0000050)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	amino acid binding (GO:0016597)|ornithine carbamoyltransferase activity (GO:0004585)|phosphate ion binding (GO:0042301)|phospholipid binding (GO:0005543)			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22					L-Citrulline(DB00155)|L-Ornithine(DB00129)	TACTCCAAAGGTAGGGAAACT	0.453																																							uc004def.3		NA																	0				ovary(1)|breast(1)	2	GRCh37	CS961653|CS971835	OTC	S	rs68170503	c.e6+1		ornithine carbamoyltransferase precursor	L-Citrulline(DB00155)|L-Ornithine(DB00129)						88.0	73.0	78.0					X																	38262994		2202	4300	6502	SO:0001630	splice_region_variant	5009				arginine biosynthetic process|urea cycle	mitochondrial matrix|ornithine carbamoyltransferase complex	ornithine carbamoyltransferase activity	g.chrX:38262994G>T	K02100	CCDS14247.1	Xp21.1	2014-06-28			ENSG00000036473	ENSG00000036473	2.1.3.3		8512	protein-coding gene	gene with protein product		300461					Standard	NM_000531		Approved		uc004def.4	P00480	OTTHUMG00000022727	ENST00000039007.4:c.663+1G>T	X.37:g.38262994G>T							p.K221_splice	NM_000531	NP_000522	P00480	OTC_HUMAN			6	877	+								A8K9P2|D3DWB0|Q3KNR1|Q6B0I1|Q9NYJ5	Splice_Site	SNP	ENST00000039007.4	37	c.663_splice	CCDS14247.1	.	.	.	.	.	.	.	.	.	.	g	24.6	4.553347	0.86127	.	.	ENSG00000036473	ENST00000039007	.	.	.	5.92	5.92	0.95590	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.2293	0.93831	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	OTC	38147938	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	9.417000	0.97391	2.492000	0.84095	0.600000	0.82982	.		0.453	OTC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059006.2		Intron	17	54	1	0	8.00594e-06	0.007413	8.95565e-06	17	54				
MAOB	4129	broad.mit.edu	37	X	43626797	43626797	+	Silent	SNP	G	G	C			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chrX:43626797G>C	ENST00000378069.4	-	15	1626	c.1479C>G	c.(1477-1479)ctC>ctG	p.L493L	MAOB_ENST00000536181.1_Silent_p.L477L|MAOB_ENST00000538942.1_3'UTR	NM_000898.4	NP_000889.3	P27338	AOFB_HUMAN	monoamine oxidase B	493					negative regulation of serotonin secretion (GO:0014063)|positive regulation of dopamine metabolic process (GO:0045964)|response to aluminum ion (GO:0010044)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)|substantia nigra development (GO:0021762)|xenobiotic metabolic process (GO:0006805)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitochondrial envelope (GO:0005740)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|primary amine oxidase activity (GO:0008131)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(2)|skin(5)	21					Amantadine(DB00915)|Amphetamine(DB00182)|Dopamine(DB00988)|Ephedra(DB01363)|Flavin adenine dinucleotide(DB03147)|Furazolidone(DB00614)|Isocarboxazid(DB01247)|Linezolid(DB00601)|Methamphetamine(DB01577)|Moclobemide(DB01171)|Nandrolone decanoate(DB08804)|Nicotine(DB00184)|Pargyline(DB01626)|Phenelzine(DB00780)|Phentermine(DB00191)|Procaine(DB00721)|Rasagiline(DB01367)|Selegiline(DB01037)|Sertraline(DB01104)|Tranylcypromine(DB00752)|Zonisamide(DB00909)	CAATCAGCCTGAGCAGGCCTG	0.522																																							uc004dfz.3		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(1477-1479)CTC>CTG		monoamine oxidase B	Amantadine(DB00915)|Bupropion(DB01156)|Carbidopa(DB00190)|Citalopram(DB00215)|Dopamine(DB00988)|Entacapone(DB00494)|Furazolidone(DB00614)|Ginkgo biloba(DB01381)|Ibuprofen(DB01050)|Imipramine(DB00458)|Iproniazid(DB04818)|Isocarboxazid(DB01247)|Levodopa(DB01235)|Maprotiline(DB00934)|Meclizine(DB00737)|Moclobemide(DB01171)|Nicotine(DB00184)|Pargyline(DB01626)|Phenelzine(DB00780)|Phentermine(DB00191)|Rasagiline(DB01367)|Selegiline(DB01037)|Tranylcypromine(DB00752)						105.0	84.0	91.0					X																	43626797		2203	4300	6503	SO:0001819	synonymous_variant	4129				xenobiotic metabolic process	integral to membrane|mitochondrial outer membrane	electron carrier activity|primary amine oxidase activity	g.chrX:43626797G>C		CCDS14261.1	Xp11.4-p11.3	2008-02-05			ENSG00000069535	ENSG00000069535	1.4.3.4		6834	protein-coding gene	gene with protein product		309860					Standard	NM_000898		Approved		uc004dfz.4	P27338	OTTHUMG00000021388	ENST00000378069.4:c.1479C>G	X.37:g.43626797G>C						MAOB_uc011mkx.1_3'UTR|MAOB_uc011mky.1_Silent_p.L477L	p.L493L	NM_000898	NP_000889	P27338	AOFB_HUMAN			15	1655	-			493			Helical; Anchor for type IV membrane protein.		B2R6R3|B7Z5H3|D3DWC3|Q7Z6S2	Silent	SNP	ENST00000378069.4	37	c.1479C>G	CCDS14261.1																																																																																				0.522	MAOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056303.1	NM_000898		25	43	0	0	0	0.009535	0	25	43				
PRICKLE3	4007	broad.mit.edu	37	X	49032082	49032082	+	Silent	SNP	G	G	C			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chrX:49032082G>C	ENST00000376317.3	-	9	1882	c.1788C>G	c.(1786-1788)ccC>ccG	p.P596P	PRICKLE3_ENST00000538114.1_Silent_p.P420P|PRICKLE3_ENST00000536904.1_Silent_p.P515P|PRICKLE3_ENST00000540849.1_Silent_p.P528P	NM_006150.3	NP_006141.2	O43900	PRIC3_HUMAN	prickle homolog 3 (Drosophila)	596							zinc ion binding (GO:0008270)			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|skin(2)	22						GAGAGTCCCTGGGGAGCGATA	0.612																																							uc004dmy.1		NA																	0				breast(1)	1						c.(1786-1788)CCC>CCG		LIM domain only 6							58.0	55.0	56.0					X																	49032082		2203	4300	6503	SO:0001819	synonymous_variant	4007						protein binding|zinc ion binding	g.chrX:49032082G>C	BC016856	CCDS14320.1	Xp11.23	2008-02-05	2007-09-18	2007-09-18	ENSG00000012211	ENSG00000012211			6645	protein-coding gene	gene with protein product		300111	"""LIM domain only 6"""	LMO6		9344658	Standard	XM_005272605		Approved		uc004dmy.1	O43900	OTTHUMG00000024134	ENST00000376317.3:c.1788C>G	X.37:g.49032082G>C						PRICKLE3_uc011mmv.1_Silent_p.P528P|PRICKLE3_uc011mmw.1_Silent_p.P515P|PRICKLE3_uc011mmx.1_Silent_p.P558P	p.P596P	NM_006150	NP_006141	O43900	PRIC3_HUMAN			9	1814	-			596					B7Z8F2|O76007|Q53XR5	Silent	SNP	ENST00000376317.3	37	c.1788C>G	CCDS14320.1	.	.	.	.	.	.	.	.	.	.	-	5.451	0.268246	0.10349	.	.	ENSG00000012211	ENST00000453382	.	.	.	3.46	-4.39	0.03611	.	.	.	.	.	T	0.20210	0.0486	.	.	.	0.09310	N	0.999996	.	.	.	.	.	.	T	0.23868	-1.0176	4	.	.	.	-0.8104	4.1298	0.10144	0.5064:0.0:0.2107:0.2829	.	.	.	.	E	609	.	.	Q	-	1	0	PRICKLE3	48919026	0.000000	0.05858	0.000000	0.03702	0.216000	0.24613	-0.677000	0.05215	-1.535000	0.01740	0.455000	0.32223	CAG		0.612	PRICKLE3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060811.1	NM_006150		8	51	0	0	0	0.006214	0	8	51				
PAGE1	8712	broad.mit.edu	37	X	49454072	49454072	+	Missense_Mutation	SNP	C	C	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chrX:49454072C>T	ENST00000376150.3	-	5	499	c.367G>A	c.(367-369)Gtc>Atc	p.V123I		NM_003785.3	NP_003776.2	O75459	PAGE1_HUMAN	P antigen family, member 1 (prostate associated)	123					cellular defense response (GO:0006968)					endometrium(1)|large_intestine(2)|lung(2)|skin(1)|urinary_tract(1)	7	Ovarian(276;0.236)					AACTCCTGGACATCAGGACCA	0.483																																							uc004dom.2		NA																	0				skin(1)	1						c.(367-369)GTC>ATC		P antigen family, member 1							103.0	90.0	95.0					X																	49454072		2203	4300	6503	SO:0001583	missense	8712				cellular defense response			g.chrX:49454072C>T	AF058989	CCDS14327.1	Xp11.23	2009-06-17	2005-01-26	2005-01-27	ENSG00000068985	ENSG00000068985			4107	protein-coding gene	gene with protein product		300288	"""G antigen, family B, 1 (prostate associated)"""	GAGEB1		9651357, 9724777	Standard	NM_003785		Approved	PAGE-1, GAGE-9, CT16.3	uc004dom.3	O75459	OTTHUMG00000033224	ENST00000376150.3:c.367G>A	X.37:g.49454072C>T	ENSP00000365320:p.Val123Ile						p.V123I	NM_003785	NP_003776	O75459	GAGB1_HUMAN			5	500	-	Ovarian(276;0.236)		123					Q6FGM3|Q9BSS7	Missense_Mutation	SNP	ENST00000376150.3	37	c.367G>A	CCDS14327.1	.	.	.	.	.	.	.	.	.	.	C	10.07	1.249013	0.22880	.	.	ENSG00000068985	ENST00000376150	T	0.11604	2.76	1.03	1.03	0.20045	.	.	.	.	.	T	0.09069	0.0224	M	0.64567	1.98	0.09310	N	1	P	0.40398	0.716	B	0.39068	0.289	T	0.14952	-1.0454	9	0.05959	T	0.93	.	5.029	0.14400	0.0:1.0:0.0:0.0	.	123	O75459	GAGB1_HUMAN	I	123	ENSP00000365320:V123I	ENSP00000365320:V123I	V	-	1	0	PAGE1	49341026	0.041000	0.20044	0.087000	0.20705	0.009000	0.06853	0.189000	0.17037	0.781000	0.33589	0.179000	0.17066	GTC		0.483	PAGE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081210.1			34	148	0	0	0	0.005524	0	34	148				
HUWE1	10075	broad.mit.edu	37	X	53617988	53617988	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chrX:53617988G>T	ENST00000342160.3	-	33	4524	c.4067C>A	c.(4066-4068)cCt>cAt	p.P1356H	HUWE1_ENST00000218328.8_Missense_Mutation_p.P1356H|HUWE1_ENST00000262854.6_Missense_Mutation_p.P1356H			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	1356					base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						GATTGGAGGAGGGTGGGTTAA	0.483																																							uc004dsp.2		NA																	0				ovary(8)|large_intestine(4)|breast(4)|kidney(1)	17						c.(4066-4068)CCT>CAT		HECT, UBA and WWE domain containing 1							150.0	119.0	130.0					X																	53617988		2203	4300	6503	SO:0001583	missense	10075				base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity	g.chrX:53617988G>T	AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"""HECT, UBA and WWE domain containing 1"""			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.4067C>A	X.37:g.53617988G>T	ENSP00000340648:p.Pro1356His					HUWE1_uc004dsn.2_Missense_Mutation_p.P181H	p.P1356H	NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN			34	4469	-			1356					O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Missense_Mutation	SNP	ENST00000342160.3	37	c.4067C>A	CCDS35301.1	.	.	.	.	.	.	.	.	.	.	G	27.0	4.786538	0.90367	.	.	ENSG00000086758	ENST00000342160;ENST00000262854;ENST00000218328	T;T;T	0.23552	1.9;1.9;1.9	5.63	5.63	0.86233	Armadillo-like helical (1);UBA-like (1);	0.191533	0.45606	D	0.000359	T	0.41282	0.1152	L	0.29908	0.895	0.80722	D	1	D;P	0.89917	1.0;0.794	D;P	0.78314	0.991;0.504	T	0.32640	-0.9899	10	0.87932	D	0	.	17.352	0.87327	0.0:0.0:1.0:0.0	.	1356;1356	Q7Z6Z7;Q7Z6Z7-2	HUWE1_HUMAN;.	H	1356	ENSP00000340648:P1356H;ENSP00000262854:P1356H;ENSP00000218328:P1356H	ENSP00000218328:P1356H	P	-	2	0	HUWE1	53634713	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.264000	0.95635	2.366000	0.80165	0.600000	0.82982	CCT		0.483	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056766.1	XM_497119		16	63	1	0	5.3912e-06	0.006122	6.05086e-06	16	63				
HUWE1	10075	broad.mit.edu	37	X	53672342	53672342	+	Missense_Mutation	SNP	C	C	G			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chrX:53672342C>G	ENST00000342160.3	-	6	882	c.425G>C	c.(424-426)aGc>aCc	p.S142T	HUWE1_ENST00000218328.8_Missense_Mutation_p.S142T|HUWE1_ENST00000262854.6_Missense_Mutation_p.S142T			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	142					base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						TGATCTTTTGCTAAATACATA	0.453																																							uc004dsp.2		NA																	0				ovary(8)|large_intestine(4)|breast(4)|kidney(1)	17						c.(424-426)AGC>ACC		HECT, UBA and WWE domain containing 1							93.0	75.0	81.0					X																	53672342		2203	4300	6503	SO:0001583	missense	10075				base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity	g.chrX:53672342C>G	AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"""HECT, UBA and WWE domain containing 1"""			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.425G>C	X.37:g.53672342C>G	ENSP00000340648:p.Ser142Thr						p.S142T	NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN			7	827	-			142					O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Missense_Mutation	SNP	ENST00000342160.3	37	c.425G>C	CCDS35301.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.345533	0.82022	.	.	ENSG00000086758	ENST00000342160;ENST00000262854;ENST00000218328;ENST00000432528	T;T;T	0.67345	-0.22;-0.22;-0.26	5.23	5.23	0.72850	Armadillo-like helical (1);E3 ubiquitin ligase, domain of unknown function DUF908 (1);Armadillo-type fold (1);	2.668340	0.01895	N	0.038843	T	0.77665	0.4164	L	0.42487	1.325	0.53005	D	0.999964	P	0.40000	0.698	P	0.52343	0.696	T	0.55623	-0.8112	10	0.41790	T	0.15	.	16.5667	0.84600	0.0:1.0:0.0:0.0	.	142	Q7Z6Z7	HUWE1_HUMAN	T	142	ENSP00000340648:S142T;ENSP00000262854:S142T;ENSP00000218328:S142T	ENSP00000218328:S142T	S	-	2	0	HUWE1	53689067	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	6.847000	0.75404	2.167000	0.68274	0.600000	0.82982	AGC		0.453	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056766.1	XM_497119		7	67	0	0	0	0.006214	0	7	67				
APEX2	27301	broad.mit.edu	37	X	55033271	55033271	+	Missense_Mutation	SNP	G	G	C			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chrX:55033271G>C	ENST00000374987.3	+	6	1026	c.960G>C	c.(958-960)caG>caC	p.Q320H	ALAS2_ENST00000498636.1_5'Flank	NM_014481.2	NP_055296.2	Q9UBZ4	APEX2_HUMAN	APEX nuclease (apurinic/apyrimidinic endonuclease) 2	320					base-excision repair (GO:0006284)|cell cycle (GO:0007049)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA catabolic process, exonucleolytic (GO:0000738)|DNA recombination (GO:0006310)	mitochondrial inner membrane (GO:0005743)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|double-stranded DNA 3'-5' exodeoxyribonuclease activity (GO:0008311)|zinc ion binding (GO:0008270)			breast(1)|endometrium(8)|large_intestine(4)|lung(6)|prostate(1)|urinary_tract(1)	21						CTGCAAAACAGTGCCCACCTC	0.567								Other BER factors																															uc004dtz.2		NA																	0				breast(1)	1						c.(958-960)CAG>CAC	Other_BER_factors	apurinic/apyrimidinic endonuclease 2							56.0	48.0	51.0					X																	55033271		2203	4300	6503	SO:0001583	missense	27301				cell cycle|DNA recombination|DNA repair	nucleus	DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|endonuclease activity|exonuclease activity|zinc ion binding	g.chrX:55033271G>C	AB021260	CCDS14365.1	Xp11.23	2014-02-18			ENSG00000169188	ENSG00000169188	4.2.99.18		17889	protein-coding gene	gene with protein product	"""zinc finger, GRF-type containing 2"""	300773				11376153	Standard	NM_014481		Approved	APEXL2, APE2, XTH2, ZGRF2	uc004dtz.4	Q9UBZ4	OTTHUMG00000021642	ENST00000374987.3:c.960G>C	X.37:g.55033271G>C	ENSP00000364126:p.Gln320His					APEX2_uc011mom.1_Missense_Mutation_p.Q149H	p.Q320H	NM_014481	NP_055296	Q9UBZ4	APEX2_HUMAN			6	1036	+			320					Q9Y5X7	Missense_Mutation	SNP	ENST00000374987.3	37	c.960G>C	CCDS14365.1	.	.	.	.	.	.	.	.	.	.	G	11.41	1.631887	0.29068	.	.	ENSG00000169188	ENST00000374987	T	0.60548	0.18	4.43	0.407	0.16371	.	0.292651	0.35805	N	0.002968	T	0.47469	0.1447	M	0.63428	1.95	0.26020	N	0.981871	B	0.14805	0.011	B	0.14578	0.011	T	0.43245	-0.9403	10	0.59425	D	0.04	-7.4686	4.6794	0.12727	0.3689:0.2818:0.3493:0.0	.	320	Q9UBZ4	APEX2_HUMAN	H	320	ENSP00000364126:Q320H	ENSP00000364126:Q320H	Q	+	3	2	APEX2	55049996	0.982000	0.34865	0.991000	0.47740	0.944000	0.59088	0.083000	0.14871	-0.166000	0.10890	0.600000	0.82982	CAG		0.567	APEX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056845.1			6	41	0	0	0	0.001168	0	6	41				
ALAS2	212	broad.mit.edu	37	X	55047622	55047622	+	Silent	SNP	A	A	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chrX:55047622A>T	ENST00000330807.5	-	5	638	c.501T>A	c.(499-501)acT>acA	p.T167T	ALAS2_ENST00000498636.1_5'Flank|ALAS2_ENST00000335854.4_Silent_p.T130T|ALAS2_ENST00000396198.3_Silent_p.T154T	NM_000032.4	NP_000023.2	P22557	HEM0_HUMAN	aminolevulinate, delta-, synthase 2	167					cellular iron ion homeostasis (GO:0006879)|erythrocyte differentiation (GO:0030218)|heme biosynthetic process (GO:0006783)|hemoglobin biosynthetic process (GO:0042541)|oxygen homeostasis (GO:0032364)|porphyrin-containing compound metabolic process (GO:0006778)|protoporphyrinogen IX biosynthetic process (GO:0006782)|response to hypoxia (GO:0001666)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	5-aminolevulinate synthase activity (GO:0003870)|coenzyme binding (GO:0050662)|glycine binding (GO:0016594)|pyridoxal phosphate binding (GO:0030170)			central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(2)|skin(1)	17					Glycine(DB00145)	AGCGGTTCACAGTCTTGAACA	0.473																																							uc004dua.3		NA																	0				ovary(1)	1						c.(499-501)ACT>ACA		5-aminolevulinate synthase 2 isoform a	Glycine(DB00145)						174.0	124.0	141.0					X																	55047622		2203	4300	6503	SO:0001819	synonymous_variant	212				cellular iron ion homeostasis|erythrocyte differentiation|heme biosynthetic process|hemoglobin biosynthetic process|oxygen homeostasis|response to hypoxia	mitochondrial inner membrane|mitochondrial matrix	5-aminolevulinate synthase activity|coenzyme binding|glycine binding|protein binding|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups	g.chrX:55047622A>T		CCDS14366.1, CCDS35303.1, CCDS43960.1	Xp11.21	2008-02-05	2008-02-04		ENSG00000158578	ENSG00000158578	2.3.1.37		397	protein-coding gene	gene with protein product	"""sideroblastic/hypochromic anemia"""	301300	"""aminolevulinate, delta-, synthase 2 (sideroblastic/hypochromic anemia)"""	ASB		1577484	Standard	NM_000032		Approved		uc004dua.4	P22557	OTTHUMG00000021641	ENST00000330807.5:c.501T>A	X.37:g.55047622A>T						ALAS2_uc004dub.3_Silent_p.T154T|ALAS2_uc004dud.3_Silent_p.T130T	p.T167T	NM_000032	NP_000023	P22557	HEM0_HUMAN			5	639	-			167					A8K3F0|A8K6C4|Q13735|Q5JZF5|Q8N6H3	Silent	SNP	ENST00000330807.5	37	c.501T>A	CCDS14366.1	.	.	.	.	.	.	.	.	.	.	A	10.81	1.456339	0.26161	.	.	ENSG00000158578	ENST00000455688	.	.	.	4.92	1.17	0.20885	.	.	.	.	.	T	0.45796	0.1360	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.21415	-1.0246	4	.	.	.	-17.498	4.1041	0.10028	0.5929:0.0:0.261:0.146	.	.	.	.	Q	119	.	.	L	-	2	0	ALAS2	55064347	0.009000	0.17119	0.998000	0.56505	0.993000	0.82548	-1.095000	0.03356	-0.061000	0.13110	0.430000	0.28490	CTG		0.473	ALAS2-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056843.3	NM_000032		33	82	0	0	0	0.005524	0	33	82				
FAM104B	90736	broad.mit.edu	37	X	55185586	55185586	+	Silent	SNP	G	G	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chrX:55185586G>T	ENST00000358460.4	-	2	249	c.96C>A	c.(94-96)atC>atA	p.I32I	FAM104B_ENST00000478918.1_5'UTR|FAM104B_ENST00000489298.1_Silent_p.I31I|FAM104B_ENST00000332132.4_Silent_p.I32I|FAM104B_ENST00000425133.2_Silent_p.I32I|FAM104B_ENST00000477847.2_Silent_p.I29I|FAM104B_ENST00000472571.2_Silent_p.I32I			Q5XKR9	F104B_HUMAN	family with sequence similarity 104, member B	32										endometrium(3)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	8						AATCCTGAAAGATAGGGTTTC	0.378																																							uc004duh.1		NA																	0					0						c.(94-96)ATC>ATA		hypothetical protein LOC90736							144.0	114.0	124.0					X																	55185586		2203	4300	6503	SO:0001819	synonymous_variant	90736							g.chrX:55185586G>T	BC000919	CCDS35305.1, CCDS35305.2, CCDS55422.1, CCDS55423.1, CCDS55424.1, CCDS55425.1, CCDS55426.1	Xp11.22	2008-02-05	2006-05-16	2006-05-16	ENSG00000182518	ENSG00000182518			25085	protein-coding gene	gene with protein product			"""chromosome X open reading frame 44"""	CXorf44		12477932	Standard	NM_138362		Approved	FLJ20434	uc004dug.2	Q5XKR9	OTTHUMG00000021646	ENST00000358460.4:c.96C>A	X.37:g.55185586G>T						FAM104B_uc004dug.1_Silent_p.I32I|FAM104B_uc004dui.3_Silent_p.I32I	p.I32I	NM_138362	NP_612371	Q5XKR9	F104B_HUMAN			2	116	-			32					A6NEH1|B4DSV6|D6R9S5|D6RDJ5|E9PH40|Q8WVU5|Q9BRA1	Silent	SNP	ENST00000358460.4	37	c.96C>A	CCDS35305.2																																																																																				0.378	FAM104B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000056851.1	NM_138362		26	45	1	0	4.22769e-11	0.00632	5.32552e-11	26	45				
RRAGB	10325	broad.mit.edu	37	X	55784772	55784772	+	Missense_Mutation	SNP	G	G	C			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chrX:55784772G>C	ENST00000262850.7	+	11	1564	c.1121G>C	c.(1120-1122)cGc>cCc	p.R374P	RRAGB_ENST00000374941.4_Missense_Mutation_p.R346P	NM_016656.3	NP_057740.2			Ras-related GTP binding B											breast(1)|endometrium(3)|large_intestine(5)|lung(3)|pancreas(1)|prostate(1)	14						CTTCTCATGCGCTAAACATTG	0.383																																							uc004dup.2		NA																	0					0						c.(1120-1122)CGC>CCC		Ras-related GTP binding B long isoform							69.0	58.0	62.0					X																	55784772		2203	4300	6503	SO:0001583	missense	10325				cellular protein localization|cellular response to amino acid stimulus|positive regulation of TOR signaling cascade|signal transduction	Golgi apparatus|lysosome|nucleus	GTP binding|protein binding	g.chrX:55784772G>C	X90530	CCDS14371.1, CCDS14372.1	Xp11.21	2008-02-05			ENSG00000083750	ENSG00000083750			19901	protein-coding gene	gene with protein product		300725				7499430, 9394008	Standard	NM_006064		Approved		uc004dup.3	Q5VZM2	OTTHUMG00000021662	ENST00000262850.7:c.1121G>C	X.37:g.55784772G>C	ENSP00000262850:p.Arg374Pro					RRAGB_uc004duq.2_Missense_Mutation_p.R346P	p.R374P	NM_016656	NP_057740	Q5VZM2	RRAGB_HUMAN			11	1772	+			374						Missense_Mutation	SNP	ENST00000262850.7	37	c.1121G>C	CCDS14372.1	.	.	.	.	.	.	.	.	.	.	G	17.14	3.313342	0.60414	.	.	ENSG00000083750	ENST00000374941;ENST00000262850	T	0.66460	-0.21	4.53	3.65	0.41850	.	0.205028	0.53938	D	0.000060	T	0.68604	0.3019	N	0.22421	0.69	0.48632	D	0.999683	B;D	0.76494	0.223;0.999	B;D	0.77557	0.136;0.99	T	0.70920	-0.4741	10	0.87932	D	0	.	10.5151	0.44885	0.1029:0.0:0.8971:0.0	.	346;374	Q5VZM2-2;Q5VZM2	.;RRAGB_HUMAN	P	346;374	ENSP00000364077:R346P	ENSP00000262850:R374P	R	+	2	0	RRAGB	55801497	1.000000	0.71417	0.976000	0.42696	0.865000	0.49528	4.056000	0.57448	0.989000	0.38761	0.529000	0.55759	CGC		0.383	RRAGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056878.1	NM_016656		7	34	0	0	0	0.001984	0	7	34				
ZC3H12B	340554	broad.mit.edu	37	X	64722499	64722499	+	Missense_Mutation	SNP	A	A	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chrX:64722499A>T	ENST00000338957.4	+	5	1988	c.1921A>T	c.(1921-1923)Agc>Tgc	p.S641C	ZC3H12B_ENST00000423889.3_Missense_Mutation_p.S630C	NM_001010888.3	NP_001010888.3	Q5HYM0	ZC12B_HUMAN	zinc finger CCCH-type containing 12B	641							endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						ACGAGTGCAGAGCTATGGCCC	0.537																																							uc010nko.2		NA																	0				lung(1)|kidney(1)|pancreas(1)	3						c.(1888-1890)AGC>TGC		zinc finger CCCH-type containing 12B							62.0	65.0	64.0					X																	64722499		2009	4154	6163	SO:0001583	missense	340554						endonuclease activity|nucleic acid binding|zinc ion binding	g.chrX:64722499A>T	BX647241	CCDS48131.1, CCDS48131.2	Xq12	2012-07-05	2005-06-14	2005-06-14	ENSG00000102053	ENSG00000102053		"""Zinc fingers, CCCH-type domain containing"""	17407	protein-coding gene	gene with protein product	"""MCP induced protein 2"""	300889	"""chromosome X open reading frame 32"""	CXorf32		18178554	Standard	NM_001010888		Approved	MCPIP2	uc010nko.3	Q5HYM0	OTTHUMG00000021719	ENST00000338957.4:c.1921A>T	X.37:g.64722499A>T	ENSP00000340839:p.Ser641Cys						p.S630C	NM_001010888	NP_001010888	Q5HYM0	ZC12B_HUMAN			5	1897	+			630					B2RTQ3|E9PAJ6|Q5H9C0	Missense_Mutation	SNP	ENST00000338957.4	37	c.1888A>T	CCDS48131.2	.	.	.	.	.	.	.	.	.	.	A	17.00	3.275452	0.59649	.	.	ENSG00000102053	ENST00000338957;ENST00000423889;ENST00000218172	T;T	0.39997	1.05;1.07	5.1	5.1	0.69264	.	0.039400	0.85682	D	0.000000	T	0.49253	0.1546	M	0.71581	2.175	0.51233	D	0.999919	P	0.48694	0.914	P	0.46629	0.522	T	0.56583	-0.7955	10	0.87932	D	0	-35.1498	12.6781	0.56906	1.0:0.0:0.0:0.0	.	630	Q5HYM0	ZC12B_HUMAN	C	641;630;577	ENSP00000340839:S641C;ENSP00000408077:S630C	ENSP00000218172:S577C	S	+	1	0	ZC3H12B	64639224	1.000000	0.71417	0.995000	0.50966	0.989000	0.77384	8.584000	0.90798	1.876000	0.54355	0.412000	0.27726	AGC		0.537	ZC3H12B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378734.2	XM_293334		4	14	0	0	0	0.000602	0	4	14				
HEPH	9843	broad.mit.edu	37	X	65418786	65418786	+	Missense_Mutation	SNP	A	A	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chrX:65418786A>T	ENST00000343002.2	+	10	2444	c.1780A>T	c.(1780-1782)Aat>Tat	p.N594Y	HEPH_ENST00000519389.1_Missense_Mutation_p.N648Y|HEPH_ENST00000441993.2_Missense_Mutation_p.N597Y|HEPH_ENST00000419594.1_Intron|HEPH_ENST00000374727.3_Missense_Mutation_p.N597Y|HEPH_ENST00000336279.5_Missense_Mutation_p.N327Y			Q9BQS7	HEPH_HUMAN	hephaestin	594	Plastocyanin-like 4.				cellular iron ion homeostasis (GO:0006879)|copper ion transport (GO:0006825)|iron ion transport (GO:0006826)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	copper ion binding (GO:0005507)|ferrous iron binding (GO:0008198)|ferroxidase activity (GO:0004322)			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						CTGGTACAGCAATGCCAATCA	0.448																																							uc011moz.1		NA																	0				lung(5)|ovary(4)	9						c.(1789-1791)AAT>TAT		hephaestin isoform a							160.0	137.0	145.0					X																	65418786		2203	4300	6503	SO:0001583	missense	9843				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity	g.chrX:65418786A>T	AB014598	CCDS14384.2, CCDS14385.1, CCDS48133.1, CCDS14384.3, CCDS65277.1	Xq11-q12	2008-02-05			ENSG00000089472	ENSG00000089472			4866	protein-coding gene	gene with protein product		300167				9988272, 9734811	Standard	NM_014799		Approved	KIAA0698, CPL	uc011moz.2	Q9BQS7	OTTHUMG00000021732	ENST00000343002.2:c.1780A>T	X.37:g.65418786A>T	ENSP00000343939:p.Asn594Tyr					HEPH_uc004dwn.2_Missense_Mutation_p.N597Y|HEPH_uc004dwo.2_Missense_Mutation_p.N327Y|HEPH_uc010nkr.2_Intron|HEPH_uc011mpa.1_Missense_Mutation_p.N597Y	p.N597Y	NM_138737	NP_620074	Q9BQS7	HEPH_HUMAN			11	1849	+			594			Plastocyanin-like 4.|Extracellular (Potential).		B1AJX8|D3DVT7|E9PHN8|O75180|Q6UW45|Q9C058	Missense_Mutation	SNP	ENST00000343002.2	37	c.1789A>T		.	.	.	.	.	.	.	.	.	.	A	15.45	2.836886	0.50951	.	.	ENSG00000089472	ENST00000519389;ENST00000374727;ENST00000336279;ENST00000441993;ENST00000343002;ENST00000425114	D;D;D;D;D;D	0.98617	-5.03;-5.03;-5.03;-5.03;-5.03;-5.03	4.88	1.1	0.20463	Cupredoxin (2);	0.650295	0.16177	N	0.226007	D	0.96923	0.8995	L	0.50333	1.59	0.29285	N	0.869786	P;P	0.47409	0.895;0.529	P;B	0.45913	0.497;0.396	D	0.93797	0.7097	10	0.87932	D	0	.	7.4553	0.27264	0.6229:0.0:0.3771:0.0	.	648;594	E9PHN8;Q9BQS7	.;HEPH_HUMAN	Y	648;597;327;597;594;551	ENSP00000430620:N648Y;ENSP00000363859:N597Y;ENSP00000337418:N327Y;ENSP00000411687:N597Y;ENSP00000343939:N594Y;ENSP00000398078:N551Y	ENSP00000337418:N327Y	N	+	1	0	HEPH	65335511	0.008000	0.16893	0.780000	0.31762	0.966000	0.64601	0.753000	0.26376	0.108000	0.17862	0.218000	0.17770	AAT		0.448	HEPH-002	KNOWN	alternative_5_UTR|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000056995.1	NM_138737		15	61	0	0	0	0.003163	0	15	61				
EDA	1896	broad.mit.edu	37	X	68836455	68836455	+	Silent	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chrX:68836455C>A	ENST00000374552.4	+	1	545	c.303C>A	c.(301-303)ccC>ccA	p.P101P	EDA_ENST00000338901.3_Silent_p.P101P|EDA_ENST00000527388.1_Silent_p.P101P|EDA_ENST00000524573.1_Silent_p.P101P|EDA_ENST00000525810.1_Silent_p.P101P|EDA_ENST00000502251.1_3'UTR|EDA_ENST00000374553.2_Silent_p.P101P	NM_001399.4	NP_001390.1	Q92838	EDA_HUMAN	ectodysplasin A	101					cell differentiation (GO:0030154)|cell-matrix adhesion (GO:0007160)|ectoderm development (GO:0007398)|gene expression (GO:0010467)|hair follicle placode formation (GO:0060789)|immune response (GO:0006955)|odontogenesis of dentin-containing tooth (GO:0042475)|pigmentation (GO:0043473)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|salivary gland cavitation (GO:0060662)|signal transduction (GO:0007165)|trachea gland development (GO:0061153)	apical part of cell (GO:0045177)|collagen trimer (GO:0005581)|cytoskeleton (GO:0005856)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(2)|urinary_tract(1)	14						CTGACAGCCCCATCACCAGTC	0.677																																							uc004dxs.2		NA																	0				ovary(2)|large_intestine(1)	3						c.(301-303)CCC>CCA		ectodysplasin A isoform EDA-A1							34.0	37.0	36.0					X																	68836455		2203	4300	6503	SO:0001819	synonymous_variant	1896				cell differentiation|ectoderm development|immune response|positive regulation of NF-kappaB transcription factor activity|signal transduction	collagen|cytoskeleton|membrane fraction	tumor necrosis factor receptor binding	g.chrX:68836455C>A	U59227	CCDS14394.1, CCDS35318.1, CCDS35319.1, CCDS43966.1, CCDS35318.2, CCDS35319.2, CCDS55436.1	Xq12-q13.1	2013-05-22	2004-08-09	2004-08-12	ENSG00000158813	ENSG00000158813		"""Tumor necrosis factor (ligand) superfamily"""	3157	protein-coding gene	gene with protein product		300451	"""ectodermal dysplasia 1, anhidrotic"", ""oligodontia 1"""	ED1, EDA2, ODT1		8696334, 18657636, 16583127	Standard	NM_001005612		Approved	EDA1, XLHED, HED, XHED, ED1-A1, ED1-A2, EDA-A1, EDA-A2	uc004dxs.3	Q92838	OTTHUMG00000021764	ENST00000374552.4:c.303C>A	X.37:g.68836455C>A						EDA_uc004dxr.2_Silent_p.P101P|EDA_uc011mpj.1_Silent_p.P101P|EDA_uc004dxn.1_Silent_p.P101P|EDA_uc004dxm.1_Silent_p.P101P|EDA_uc004dxp.1_Silent_p.P101P|EDA_uc004dxq.1_Silent_p.P101P|EDA_uc004dxl.1_Silent_p.P101P	p.P101P	NM_001399	NP_001390	Q92838	EDA_HUMAN			1	545	+			101			Extracellular (Potential).		A0AUZ2|A2A337|B7ZLU2|B7ZLU4|O75910|Q5JS00|Q5JUM7|Q9UP77|Q9Y6L0|Q9Y6L1|Q9Y6L2|Q9Y6L3|Q9Y6L4	Silent	SNP	ENST00000374552.4	37	c.303C>A	CCDS14394.1																																																																																				0.677	EDA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057048.2	NM_001399		20	37	1	0	1.87028e-06	0.001882	2.12035e-06	20	37				
KIF4A	24137	broad.mit.edu	37	X	69623835	69623835	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chrX:69623835C>A	ENST00000374403.3	+	24	2823	c.2741C>A	c.(2740-2742)aCa>aAa	p.T914K	KIF4A_ENST00000374388.3_Missense_Mutation_p.T914K	NM_012310.4	NP_036442.3	O95239	KIF4A_HUMAN	kinesin family member 4A	914	Interaction with PRC1.				anterograde axon cargo transport (GO:0008089)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|organelle organization (GO:0006996)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)			breast(6)|endometrium(9)|kidney(3)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	51						GAGATAGAGACAGAGTTACAA	0.448																																							uc004dyg.2		NA																	0				ovary(4)	4						c.(2740-2742)ACA>AAA		kinesin family member 4							100.0	82.0	88.0					X																	69623835		2203	4300	6503	SO:0001583	missense	24137				anterograde axon cargo transport|axon guidance|blood coagulation|organelle organization	chromosome|cytosol|midbody|nuclear matrix|spindle microtubule	ATP binding|DNA binding|microtubule motor activity|protein binding	g.chrX:69623835C>A	AF179308	CCDS14401.1	Xq13.1	2008-08-11			ENSG00000090889	ENSG00000090889		"""Kinesins"""	13339	protein-coding gene	gene with protein product	"""chromokinesin"""	300521				10773663	Standard	NM_012310		Approved	KIF4-G1, KIF4, HSA271784, FLJ12530, FLJ12655, FLJ14204, FLJ20631	uc004dyg.3	O95239	OTTHUMG00000021775	ENST00000374403.3:c.2741C>A	X.37:g.69623835C>A	ENSP00000363524:p.Thr914Lys					KIF4A_uc010nkw.2_Missense_Mutation_p.T914K	p.T914K	NM_012310	NP_036442	O95239	KIF4A_HUMAN			24	2868	+			914			Potential.|Interaction with PRC1.		B2R7V5|D3DVU4|Q86TN3|Q86XX7|Q9NNY6|Q9NY24|Q9UMW3	Missense_Mutation	SNP	ENST00000374403.3	37	c.2741C>A	CCDS14401.1	.	.	.	.	.	.	.	.	.	.	C	11.24	1.579627	0.28180	.	.	ENSG00000090889	ENST00000374388;ENST00000374403;ENST00000544650	T;T	0.67171	-0.25;-0.2	4.73	1.87	0.25490	.	0.506627	0.17931	N	0.157167	T	0.46171	0.1379	N	0.25647	0.755	0.32637	N	0.521178	B	0.13145	0.007	B	0.12837	0.008	T	0.43988	-0.9357	9	.	.	.	.	5.7006	0.17881	0.1388:0.6403:0.1341:0.0867	.	914	O95239	KIF4A_HUMAN	K	914;914;216	ENSP00000363509:T914K;ENSP00000363524:T914K	.	T	+	2	0	KIF4A	69540560	1.000000	0.71417	0.995000	0.50966	0.995000	0.86356	1.920000	0.40025	0.979000	0.38497	0.594000	0.82650	ACA		0.448	KIF4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057068.1	NM_012310		12	55	1	0	3.27435e-08	0.00245	3.86864e-08	12	55				
SLC7A3	84889	broad.mit.edu	37	X	70147815	70147815	+	Silent	SNP	C	C	G			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chrX:70147815C>G	ENST00000374299.3	-	6	1020	c.876G>C	c.(874-876)ctG>ctC	p.L292L	SLC7A3_ENST00000298085.4_Silent_p.L292L			Q8WY07	CTR3_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 3	292					amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	arginine transmembrane transporter activity (GO:0015181)|L-lysine transmembrane transporter activity (GO:0015189)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(9)|ovary(1)|urinary_tract(1)	31	Renal(35;0.156)				L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	AGCAGACAGACAGTGAGATCA	0.517																																							uc004dyn.2		NA																	0				ovary(1)|kidney(1)	2						c.(874-876)CTG>CTC		solute carrier family 7 (cationic amino acid	L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)						161.0	129.0	140.0					X																	70147815		2203	4300	6503	SO:0001819	synonymous_variant	84889				cellular nitrogen compound metabolic process	integral to membrane|plasma membrane		g.chrX:70147815C>G	AF320612	CCDS14404.1	Xq12	2013-05-22			ENSG00000165349	ENSG00000165349		"""Solute carriers"""	11061	protein-coding gene	gene with protein product		300443				11591158	Standard	NM_001048164		Approved	CAT-3, ATRC3, FLJ14541	uc004dyn.3	Q8WY07	OTTHUMG00000021780	ENST00000374299.3:c.876G>C	X.37:g.70147815C>G						SLC7A3_uc004dyo.2_Silent_p.L292L	p.L292L	NM_032803	NP_116192	Q8WY07	CTR3_HUMAN			6	1034	-	Renal(35;0.156)		292			Helical; Name=7; (Potential).		D3DVU7|Q5JQR2|Q8N185|Q8NCA7|Q96SZ7	Silent	SNP	ENST00000374299.3	37	c.876G>C	CCDS14404.1																																																																																				0.517	SLC7A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057080.1	NM_032803		10	47	0	0	0	0.00245	0	10	47				
ACRC	93953	broad.mit.edu	37	X	70824337	70824337	+	Missense_Mutation	SNP	G	G	C			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chrX:70824337G>C	ENST00000373695.1	+	7	1747	c.1210G>C	c.(1210-1212)Gca>Cca	p.A404P	ACRC_ENST00000373696.3_Missense_Mutation_p.A404P			Q96QF7	ACRC_HUMAN	acidic repeat containing	404						nucleus (GO:0005634)				autonomic_ganglia(1)|breast(1)|endometrium(15)|kidney(4)|large_intestine(4)|lung(20)|ovary(5)|prostate(1)|skin(2)|stomach(1)	54	Renal(35;0.156)					GGAAGAGCCTGCACCTGTGGT	0.478																																							uc004eae.2		NA																	0				ovary(3)	3						c.(1210-1212)GCA>CCA		ACRC protein							45.0	32.0	36.0					X																	70824337		2203	4300	6503	SO:0001583	missense	93953					nucleus		g.chrX:70824337G>C	AJ311392	CCDS35326.1	Xq13.1	2010-08-05			ENSG00000147174	ENSG00000147174			15805	protein-coding gene	gene with protein product		300369					Standard	NM_052957		Approved		uc004eae.2	Q96QF7	OTTHUMG00000033327	ENST00000373695.1:c.1210G>C	X.37:g.70824337G>C	ENSP00000362799:p.Ala404Pro					BCYRN1_uc011mpt.1_Intron	p.A404P	NM_052957	NP_443189	Q96QF7	ACRC_HUMAN			8	1711	+	Renal(35;0.156)		404					B9EG62	Missense_Mutation	SNP	ENST00000373695.1	37	c.1210G>C	CCDS35326.1	.	.	.	.	.	.	.	.	.	.	G	11.17	1.558729	0.27827	.	.	ENSG00000147174	ENST00000373696;ENST00000373695	T;T	0.32988	1.43;1.43	3.5	1.72	0.24424	.	.	.	.	.	T	0.25531	0.0621	N	0.24115	0.695	0.09310	N	1	D	0.56521	0.976	P	0.50708	0.648	T	0.08973	-1.0696	9	0.56958	D	0.05	.	5.1687	0.15099	0.2808:0.0:0.7192:0.0	.	404	Q96QF7	ACRC_HUMAN	P	404	ENSP00000362800:A404P;ENSP00000362799:A404P	ENSP00000362799:A404P	A	+	1	0	ACRC	70741062	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-0.587000	0.05780	0.334000	0.23590	0.600000	0.82982	GCA		0.478	ACRC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081856.1			4	5	0	0	0	0.001168	0	4	5				
RGAG4	340526	broad.mit.edu	37	X	71351063	71351064	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	CC	CC	-	-	CC	CC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chrX:71351063_71351064CC>AA	ENST00000545866.1	-	1	694_695	c.327_328GG>TT	c.(325-330)caGGat>caTTat	p.109_110QD>HY	NHSL2_ENST00000510661.1_5'Flank|RGAG4_ENST00000609883.1_Missense_Mutation_p.109_110QD>HY|NHSL2_ENST00000535692.1_5'Flank|NHSL2_ENST00000373677.1_5'Flank|NHSL2_ENST00000540800.1_Intron	NM_001024455.3	NP_001019626.1	Q5HYW3	RGAG4_HUMAN	retrotransposon gag domain containing 4	109										cervix(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|skin(1)	24	Renal(35;0.156)					GTGCTGCGATCCTGGATCACGT	0.683																																							uc010nlh.1		NA																	0				ovary(2)|skin(1)	3						c.(325-330)CAGGAT>CATTAT		retrotransposon gag domain containing 4																																				SO:0001583	missense	340526							g.chrX:71351063_71351064CC>AA	AB082532	CCDS55446.1	Xq13.1	2008-02-05			ENSG00000242732	ENSG00000242732			29430	protein-coding gene	gene with protein product						12056414, 15716091, 16093683	Standard	NM_001024455		Approved	KIAA2001, Mar5, Mart5	uc004eaj.2	Q5HYW3	OTTHUMG00000021808	ENST00000545866.1:c.327_328delinsAA	X.37:g.71351063_71351064delinsAA	ENSP00000441366:p.Q109_D110delinsHY					NHSL2_uc011mqa.1_Intron|RGAG4_uc004eaj.1_RNA|NHSL2_uc004eak.1_5'Flank|NHSL2_uc010nli.2_5'Flank	p.109_110QD>HY	NM_001024455	NP_001019626	Q5HYW3	RGAG4_HUMAN			1	688_689	-	Renal(35;0.156)		109_110					A7E2W7|Q8NCM4|Q9NPX1	Missense_Mutation	DNP	ENST00000545866.1	37	c.327_328GG>TT	CCDS55446.1																																																																																				0.683	RGAG4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057171.1	NM_001024455		9	8	0	0	0	0.004672	0	9	8				
SRPX2	27286	broad.mit.edu	37	X	99901370	99901370	+	Silent	SNP	A	A	G			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chrX:99901370A>G	ENST00000373004.3	+	2	479	c.51A>G	c.(49-51)ctA>ctG	p.L17L	SRPX2_ENST00000481988.1_3'UTR	NM_014467.2	NP_055282.1	O60687	SRPX2_HUMAN	sushi-repeat containing protein, X-linked 2	17					angiogenesis (GO:0001525)|cell motility (GO:0048870)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|positive regulation of synapse assembly (GO:0051965)|regulation of phosphorylation (GO:0042325)|single organismal cell-cell adhesion (GO:0016337)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|excitatory synapse (GO:0060076)|extracellular space (GO:0005615)|synaptic membrane (GO:0097060)	hepatocyte growth factor binding (GO:0036458)|identical protein binding (GO:0042802)|receptor binding (GO:0005102)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(2)|upper_aerodigestive_tract(1)	19						TGTTCTTCCTAACTCCGGCAG	0.463																																							uc004egb.2		NA																	0				ovary(2)	2						c.(49-51)CTA>CTG		sushi-repeat-containing protein, X-linked 2							145.0	125.0	132.0					X																	99901370		2203	4300	6503	SO:0001819	synonymous_variant	27286				angiogenesis|cell motility|cell-cell adhesion|positive regulation of cell migration involved in sprouting angiogenesis|regulation of phosphorylation	cytoplasm|extracellular region	receptor binding	g.chrX:99901370A>G	AF393649	CCDS14471.1	Xq21.33-q23	2011-01-25	2011-01-25		ENSG00000102359	ENSG00000102359			30668	protein-coding gene	gene with protein product		300642	"""sushi-repeat-containing protein, X-linked 2"""			9864177	Standard	NM_014467		Approved	SRPUL	uc004egb.3	O60687	OTTHUMG00000022003	ENST00000373004.3:c.51A>G	X.37:g.99901370A>G							p.L17L	NM_014467	NP_055282	O60687	SRPX2_HUMAN			2	531	+			17					B3KQT3|Q8WW85	Silent	SNP	ENST00000373004.3	37	c.51A>G	CCDS14471.1																																																																																				0.463	SRPX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057486.1	NM_014467		5	94	0	0	0	0.001168	0	5	94				
ARL13A	392509	broad.mit.edu	37	X	100240690	100240690	+	Silent	SNP	G	G	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chrX:100240690G>T	ENST00000450049.2	+	4	278	c.165G>T	c.(163-165)tcG>tcT	p.S55S		NM_001162491.1	NP_001155963.1	Q5H913	AR13A_HUMAN	ADP-ribosylation factor-like 13A	55					small GTPase mediated signal transduction (GO:0007264)	intracellular (GO:0005622)	GTP binding (GO:0005525)			endometrium(1)|ovary(1)	2						GCATGAAATCGGAACTGACTA	0.448																																							uc004ego.2		NA																	0				ovary(1)	1						c.(163-165)TCG>TCT		ADP-ribosylation factor-like 13 isoform a							144.0	132.0	136.0					X																	100240690		1923	4127	6050	SO:0001819	synonymous_variant	392509						GTP binding	g.chrX:100240690G>T		CCDS55463.1	Xq22.1	2014-05-09	2005-11-18	2005-11-18	ENSG00000174225	ENSG00000174225		"""ADP-ribosylation factors-like"", ""ADP-ribosylation factors"""	31709	protein-coding gene	gene with protein product			"""ADP-ribosylation factor-like 13"""	ARL13			Standard	NM_001162491		Approved		uc011mrf.2	Q5H913	OTTHUMG00000022013	ENST00000450049.2:c.165G>T	X.37:g.100240690G>T						ARL13A_uc011mrf.1_Silent_p.S55S|ARL13A_uc010nng.2_Silent_p.S55S	p.S55S	NM_001012990	NP_001013008	Q5H913	AR13A_HUMAN			4	281	+			55					B2RTT6|B4DX50	Silent	SNP	ENST00000450049.2	37	c.165G>T	CCDS55463.1																																																																																				0.448	ARL13A-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000057504.2	XM_373358		3	57	1	0	0.004672	0.004672	0.00489009	3	57				
HNRNPH2	3188	broad.mit.edu	37	X	100667366	100667366	+	Missense_Mutation	SNP	C	C	G			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chrX:100667366C>G	ENST00000316594.5	+	2	468	c.390C>G	c.(388-390)ttC>ttG	p.F130L		NM_001032393.2|NM_001199973.1|NM_001199974.1|NM_019597.4	NP_001027565.1|NP_001186902.1|NP_001186903.1|NP_062543.1	P55795	HNRH2_HUMAN	heterogeneous nuclear ribonucleoprotein H2 (H')	130	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(3)|large_intestine(2)|lung(6)|skin(1)	12						TTGTTCAGTTCTTTTCAGGGT	0.507																																							uc004ehm.2		NA																	0					0						c.(388-390)TTC>TTG		heterogeneous nuclear ribonucleoprotein H2							99.0	90.0	93.0					X																	100667366		2203	4300	6503	SO:0001583	missense	3188				nuclear mRNA splicing, via spliceosome	actin cytoskeleton|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding	g.chrX:100667366C>G	U01923	CCDS14485.1	Xq22	2013-02-12		2008-04-18	ENSG00000126945	ENSG00000126945		"""RNA binding motif (RRM) containing"""	5042	protein-coding gene	gene with protein product		300610		HNRPH2		7499401	Standard	NM_019597		Approved	hnRNPH', FTP3, HNRPH'	uc004ehn.3	P55795	OTTHUMG00000022029	ENST00000316594.5:c.390C>G	X.37:g.100667366C>G	ENSP00000361927:p.Phe130Leu					HNRNPH2_uc004ehn.2_Missense_Mutation_p.F130L	p.F130L	NM_019597	NP_062543	P55795	HNRH2_HUMAN			2	560	+			130			RRM 2.		A1L400|Q9HHA7	Missense_Mutation	SNP	ENST00000316594.5	37	c.390C>G	CCDS14485.1	.	.	.	.	.	.	.	.	.	.	C	15.56	2.869259	0.51588	.	.	ENSG00000126945	ENST00000316594	T	0.08634	3.07	4.73	2.81	0.32909	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.20455	0.0492	M	0.69463	2.115	0.58432	D	0.999998	D	0.76494	0.999	D	0.91635	0.999	T	0.00939	-1.1507	9	.	.	.	-5.2071	5.1277	0.14894	0.0:0.6163:0.0:0.3837	.	130	P55795	HNRH2_HUMAN	L	130	ENSP00000361927:F130L	.	F	+	3	2	HNRNPH2	100554022	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.097000	0.41748	1.009000	0.39289	0.513000	0.50165	TTC		0.507	HNRNPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057556.1	NM_019597		21	65	0	0	0	0.001882	0	21	65				
ESX1	80712	broad.mit.edu	37	X	103494976	103494976	+	Missense_Mutation	SNP	C	C	G			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chrX:103494976C>G	ENST00000372588.4	-	4	1237	c.1154G>C	c.(1153-1155)gGc>gCc	p.G385A		NM_153448.3	NP_703149.1	Q8N693	ESX1_HUMAN	ESX homeobox 1	385					labyrinthine layer blood vessel development (GO:0060716)|labyrinthine layer morphogenesis (GO:0060713)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of cell cycle (GO:0051726)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding (GO:0043565)			endometrium(2)|large_intestine(10)|lung(12)|ovary(1)|skin(2)	27						AGGAGCCAGGCCAGTGTGAGG	0.582																																					Pancreas(200;1705 2227 25194 28471 45274)	Pancreas(200;1705 2227 25194 28471 45274)	uc004ely.2		NA																	0				ovary(1)	1						c.(1153-1155)GGC>GCC		extraembryonic, spermatogenesis, homeobox							54.0	52.0	53.0					X																	103494976		2203	4300	6503	SO:0001583	missense	80712				negative regulation of transcription, DNA-dependent|regulation of cell cycle	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:103494976C>G	AL049631	CCDS14516.1	Xq22.2	2011-06-20	2007-07-11	2006-02-08	ENSG00000123576	ENSG00000123576		"""Homeoboxes / PRD class"""	14865	protein-coding gene	gene with protein product		300154	"""extraembryonic, spermatogenesis, homeobox 1 homolog (mouse)"""	ESX1L		11374906, 17242862	Standard	NM_153448		Approved	ESXR1	uc004ely.3	Q8N693	OTTHUMG00000022125	ENST00000372588.4:c.1154G>C	X.37:g.103494976C>G	ENSP00000361669:p.Gly385Ala						p.G385A	NM_153448	NP_703149	Q8N693	ESX1_HUMAN			4	1212	-			385					B0QYU3|Q7Z6K7	Missense_Mutation	SNP	ENST00000372588.4	37	c.1154G>C	CCDS14516.1	.	.	.	.	.	.	.	.	.	.	C	11.53	1.665765	0.29604	.	.	ENSG00000123576	ENST00000372588	T	0.54279	0.58	4.32	2.57	0.30868	.	.	.	.	.	T	0.35941	0.0949	L	0.39020	1.185	0.09310	N	1	P	0.38020	0.615	B	0.29267	0.1	T	0.24083	-1.0170	9	0.87932	D	0	-7.1921	6.1508	0.20310	0.0:0.4184:0.4597:0.1219	.	385	Q8N693	ESX1_HUMAN	A	385	ENSP00000361669:G385A	ENSP00000361669:G385A	G	-	2	0	ESX1	103381632	0.379000	0.25123	0.001000	0.08648	0.069000	0.16628	0.065000	0.14466	0.581000	0.29539	0.600000	0.82982	GGC		0.582	ESX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057763.2	NM_153448		11	17	0	0	0	0.00245	0	11	17				
MID2	11043	broad.mit.edu	37	X	107169377	107169377	+	Missense_Mutation	SNP	A	A	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chrX:107169377A>T	ENST00000262843.6	+	9	2199	c.1651A>T	c.(1651-1653)Aat>Tat	p.N551Y	MID2_ENST00000443968.2_Missense_Mutation_p.N521Y|RP6-191P20.4_ENST00000430140.1_RNA	NM_012216.3|NM_052817.2	NP_036348.2|NP_438112.2	Q9UJV3	TRIM1_HUMAN	midline 2	551	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				innate immune response (GO:0045087)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|negative regulation of viral transcription (GO:0032897)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein localization to microtubule (GO:0035372)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	ligase activity (GO:0016874)|microtubule binding (GO:0008017)|phosphoprotein binding (GO:0051219)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)	19						GAAGATCTCCAATGATGGATT	0.403																																							uc004enl.2		NA																	0				ovary(1)	1						c.(1651-1653)AAT>TAT		midline 2 isoform 1							84.0	85.0	85.0					X																	107169377		2203	4300	6503	SO:0001583	missense	11043					centrosome|microtubule	ligase activity|zinc ion binding	g.chrX:107169377A>T		CCDS14532.2, CCDS14533.2	Xq22.1-q22.2	2013-02-11			ENSG00000080561	ENSG00000080561		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"", ""Fibronectin type III domain containing"""	7096	protein-coding gene	gene with protein product		300204				10400986	Standard	NM_012216		Approved	FXY2, TRIM1, RNF60	uc004enl.3	Q9UJV3	OTTHUMG00000022171	ENST00000262843.6:c.1651A>T	X.37:g.107169377A>T	ENSP00000262843:p.Asn551Tyr					MID2_uc004enk.2_Missense_Mutation_p.N521Y	p.N551Y	NM_012216	NP_036348	Q9UJV3	TRIM1_HUMAN			9	2224	+			551			B30.2/SPRY.		A6NEL8|A6PVI5|Q5JYF5|Q8WWK1|Q9UJR9	Missense_Mutation	SNP	ENST00000262843.6	37	c.1651A>T	CCDS14532.2	.	.	.	.	.	.	.	.	.	.	A	13.92	2.381890	0.42207	.	.	ENSG00000080561	ENST00000262843;ENST00000443968	T;T	0.61859	0.07;0.07	5.63	5.63	0.86233	Concanavalin A-like lectin/glucanase (1);B30.2/SPRY domain (1);	0.000000	0.85682	D	0.000000	T	0.67192	0.2867	L	0.57536	1.79	0.80722	D	1	D;D	0.56287	0.957;0.975	P;P	0.57101	0.558;0.813	T	0.70088	-0.4968	10	0.62326	D	0.03	.	12.6062	0.56525	1.0:0.0:0.0:0.0	.	551;521	Q9UJV3;Q9UJV3-2	TRIM1_HUMAN;.	Y	551;521	ENSP00000262843:N551Y;ENSP00000413976:N521Y	ENSP00000262843:N551Y	N	+	1	0	MID2	107056033	0.997000	0.39634	1.000000	0.80357	0.996000	0.88848	2.452000	0.44961	1.883000	0.54544	0.486000	0.48141	AAT		0.403	MID2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057852.2	NM_012216		45	31	0	0	0	0.003214	0	45	31				
PSMD10	5716	broad.mit.edu	37	X	107328312	107328312	+	Silent	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chrX:107328312C>A	ENST00000217958.3	-	5	670	c.573G>T	c.(571-573)ctG>ctT	p.L191L	PSMD10_ENST00000372295.1_Silent_p.L150L|PSMD10_ENST00000372296.1_3'UTR|PSMD10_ENST00000361815.5_3'UTR|PSMD10_ENST00000340200.5_Silent_p.L158L	NM_002814.3|NM_170750.2	NP_002805.1|NP_736606.1	O75832	PSD10_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 10	191	Interaction with RB1.|Interaction with RELA.				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)|cytoplasmic sequestering of NF-kappaB (GO:0007253)|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 DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of cell growth (GO:0030307)|positive regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045737)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasome regulatory particle assembly (GO:0070682)|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)|intermediate filament cytoskeleton (GO:0045111)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)	transcription factor binding (GO:0008134)			endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9						CTTGGGACACCAGCAGTTTTG	0.443																																							uc004enp.1		NA																	0				ovary(1)	1						c.(571-573)CTG>CTT		proteasome 26S non-ATPase subunit 10 isoform 1							155.0	152.0	153.0					X																	107328312		2203	4300	6503	SO:0001819	synonymous_variant	5716				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cytoplasmic sequestering of NF-kappaB|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 apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of MAPKKK cascade|negative regulation of NF-kappaB transcription factor activity|negative regulation of release of cytochrome c from mitochondria|negative regulation of transcription from RNA polymerase II promoter|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of cell growth|positive regulation of cyclin-dependent protein kinase activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|proteasome regulatory particle assembly|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	actin cytoskeleton|cytoplasm|intermediate filament cytoskeleton|nucleus|proteasome regulatory particle	transcription factor binding	g.chrX:107328312C>A	AB009619	CCDS14536.1, CCDS14537.1	Xq22.3	2013-01-10			ENSG00000101843	ENSG00000101843		"""Proteasome (prosome, macropain) subunits"", ""Ankyrin repeat domain containing"""	9555	protein-coding gene	gene with protein product	"""gankyrin"""	300880				9714768	Standard	NM_002814		Approved	p28	uc004enp.2	O75832	OTTHUMG00000022177	ENST00000217958.3:c.573G>T	X.37:g.107328312C>A						PSMD10_uc004enq.1_3'UTR	p.L191L	NM_002814	NP_002805	O75832	PSD10_HUMAN			5	671	-			191			ANK 6.|Interaction with RELA.|Interaction with RB1.		Q5U0B2|Q8IZK9	Silent	SNP	ENST00000217958.3	37	c.573G>T	CCDS14536.1																																																																																				0.443	PSMD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057868.1	NM_170750		7	126	1	0	3.09899e-07	0.004482	3.55731e-07	7	126				
IRS4	8471	broad.mit.edu	37	X	107978597	107978597	+	Silent	SNP	C	C	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chrX:107978597C>T	ENST00000372129.2	-	1	1054	c.978G>A	c.(976-978)gaG>gaA	p.E326E	RP6-24A23.3_ENST00000436013.1_RNA|RP6-24A23.3_ENST00000608811.1_RNA|RP6-24A23.6_ENST00000563887.1_5'Flank	NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	326	IRS-type PTB. {ECO:0000255|PROSITE- ProRule:PRU00389}.				positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						CTCTCATCTTCTCCAAAAACA	0.567																																							uc004eoc.2		NA																	0				ovary(4)|large_intestine(2)|lung(1)|breast(1)|skin(1)|pancreas(1)	10						c.(976-978)GAG>GAA		insulin receptor substrate 4							175.0	166.0	169.0					X																	107978597		2203	4300	6503	SO:0001819	synonymous_variant	8471					plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity	g.chrX:107978597C>T	AF007567	CCDS14544.1	Xq22.3	2008-08-01			ENSG00000133124	ENSG00000133124			6128	protein-coding gene	gene with protein product		300904				9261155, 9553137	Standard	NM_003604		Approved	PY160, IRS-4	uc004eoc.2	O14654	OTTHUMG00000022181	ENST00000372129.2:c.978G>A	X.37:g.107978597C>T							p.E326E	NM_003604	NP_003595	O14654	IRS4_HUMAN			1	1011	-			326			IRS-type PTB.			Silent	SNP	ENST00000372129.2	37	c.978G>A	CCDS14544.1																																																																																				0.567	IRS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057879.1	NM_003604		28	122	0	0	0	0.002096	0	28	122				
DOCK11	139818	broad.mit.edu	37	X	117733145	117733145	+	Missense_Mutation	SNP	A	A	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chrX:117733145A>T	ENST00000276202.7	+	23	2579	c.2516A>T	c.(2515-2517)cAg>cTg	p.Q839L	DOCK11_ENST00000276204.6_Missense_Mutation_p.Q839L	NM_144658.3	NP_653259.3	Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	839					blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						CAGCTGATTCAGTCAGGCTCG	0.393																																							uc004eqp.2		NA																	0				ovary(3)	3						c.(2515-2517)CAG>CTG		dedicator of cytokinesis 11							71.0	62.0	65.0					X																	117733145		2203	4300	6503	SO:0001583	missense	139818				blood coagulation	cytosol	GTP binding	g.chrX:117733145A>T	AK125641	CCDS35373.1	Xq24	2013-10-25			ENSG00000147251	ENSG00000147251		"""Pleckstrin homology (PH) domain containing"""	23483	protein-coding gene	gene with protein product	"""zizimin2"""	300681				12432077, 16968698	Standard	NM_144658		Approved	FLJ32122, FLJ43653, ZIZ2, ACG	uc004eqp.2	Q5JSL3	OTTHUMG00000022256	ENST00000276202.7:c.2516A>T	X.37:g.117733145A>T	ENSP00000276202:p.Gln839Leu					DOCK11_uc004eqq.2_Missense_Mutation_p.Q605L	p.Q839L	NM_144658	NP_653259	Q5JSL3	DOC11_HUMAN			23	2579	+			839			DHR-1.		A6NMF0|Q66M66|Q6ZUJ5|Q86VU8|Q96MN3	Missense_Mutation	SNP	ENST00000276202.7	37	c.2516A>T	CCDS35373.1	.	.	.	.	.	.	.	.	.	.	A	12.68	2.010309	0.35511	.	.	ENSG00000147251	ENST00000276204;ENST00000276202	T;T	0.17370	2.28;2.28	5.61	5.61	0.85477	.	0.249385	0.40222	N	0.001155	T	0.11196	0.0273	N	0.21240	0.645	0.38254	D	0.941702	P;B	0.37864	0.61;0.035	B;B	0.32583	0.148;0.013	T	0.26985	-1.0087	10	0.20519	T	0.43	-5.9735	14.0451	0.64700	1.0:0.0:0.0:0.0	.	839;839	A6NIW2;Q5JSL3	.;DOC11_HUMAN	L	839	ENSP00000276204:Q839L;ENSP00000276202:Q839L	ENSP00000276202:Q839L	Q	+	2	0	DOCK11	117617173	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.998000	0.57024	1.982000	0.57802	0.486000	0.48141	CAG		0.393	DOCK11-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000356002.1	NM_144658		22	30	0	0	0	0.005443	0	22	30				
TENM1	10178	broad.mit.edu	37	X	123556172	123556172	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chrX:123556172G>T	ENST00000371130.3	-	23	4463	c.4400C>A	c.(4399-4401)gCc>gAc	p.A1467D	STAG2_ENST00000469481.1_Intron|TENM1_ENST00000422452.2_Missense_Mutation_p.A1474D	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	1467					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)										GTCAGTGGGGGCACCAGCGAT	0.468																																							uc004euj.2		NA																	0				ovary(11)|breast(4)|large_intestine(2)|skin(2)|pancreas(2)|upper_aerodigestive_tract(1)|lung(1)	23						c.(4399-4401)GCC>GAC		odz, odd Oz/ten-m homolog 1 isoform 3							161.0	114.0	130.0					X																	123556172		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:123556172G>T	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.4400C>A	X.37:g.123556172G>T	ENSP00000360171:p.Ala1467Asp					ODZ1_uc011muj.1_Missense_Mutation_p.A1473D|ODZ1_uc010nqy.2_Missense_Mutation_p.A1474D	p.A1467D	NM_014253	NP_055068	Q9UKZ4	TEN1_HUMAN			23	4464	-			1467			Extracellular (Potential).		B2RTR5|Q5JZ17	Missense_Mutation	SNP	ENST00000371130.3	37	c.4400C>A	CCDS14609.1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.742647	0.89573	.	.	ENSG00000009694	ENST00000371130;ENST00000422452	D;D	0.89939	-2.59;-2.59	5.31	5.31	0.75309	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	D	0.93657	0.7974	M	0.64404	1.975	0.80722	D	1	D;D;D	0.76494	0.999;0.998;0.992	D;D;P	0.83275	0.996;0.914;0.893	D	0.94080	0.7343	10	0.62326	D	0.03	.	18.1135	0.89543	0.0:0.0:1.0:0.0	.	1473;1474;1467	B7ZMH4;B2RTR5;Q9UKZ4	.;.;TEN1_HUMAN	D	1467;1474	ENSP00000360171:A1467D;ENSP00000403954:A1474D	ENSP00000360171:A1467D	A	-	2	0	ODZ1	123383853	1.000000	0.71417	0.976000	0.42696	0.912000	0.54170	9.750000	0.98875	2.213000	0.71641	0.594000	0.82650	GCC		0.468	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058985.1	NM_014253		55	41	1	0	4.09171e-25	0.00361	6.1073e-25	55	41				
GPR112	139378	broad.mit.edu	37	X	135428925	135428925	+	Silent	SNP	T	T	C			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chrX:135428925T>C	ENST00000394143.1	+	6	3351	c.3060T>C	c.(3058-3060)aaT>aaC	p.N1020N	GPR112_ENST00000287534.4_Silent_p.N957N|GPR112_ENST00000412101.1_Silent_p.N815N|GPR112_ENST00000370652.1_Silent_p.N1020N|GPR112_ENST00000394141.1_Silent_p.N815N	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	1020					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)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					TGCCAGTTAATGGCAGTTCTG	0.493																																							uc004ezu.1		NA																	0				ovary(5)|large_intestine(2)|skin(2)|lung(1)|breast(1)|pancreas(1)	12						c.(3058-3060)AAT>AAC		G-protein coupled receptor 112							198.0	170.0	180.0					X																	135428925		2203	4300	6503	SO:0001819	synonymous_variant	139378				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chrX:135428925T>C	AY140954	CCDS35409.1	Xq26.3	2014-08-08			ENSG00000156920	ENSG00000156920		"""-"", ""GPCR / Class B : Orphans"""	18992	protein-coding gene	gene with protein product						12435584	Standard	XM_005262367		Approved	RP1-299I16, PGR17	uc004ezu.1	Q8IZF6	OTTHUMG00000022508	ENST00000394143.1:c.3060T>C	X.37:g.135428925T>C						GPR112_uc010nsb.1_Silent_p.N815N|GPR112_uc010nsc.1_Silent_p.N787N	p.N1020N	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN			6	3351	+	Acute lymphoblastic leukemia(192;0.000127)		1020			Extracellular (Potential).		A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Silent	SNP	ENST00000394143.1	37	c.3060T>C	CCDS35409.1																																																																																				0.493	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000286639.1			10	152	0	0	0	0.001855	0	10	152				
GPR112	139378	broad.mit.edu	37	X	135429137	135429137	+	Missense_Mutation	SNP	C	C	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chrX:135429137C>T	ENST00000394143.1	+	6	3563	c.3272C>T	c.(3271-3273)gCc>gTc	p.A1091V	GPR112_ENST00000287534.4_Missense_Mutation_p.A1028V|GPR112_ENST00000412101.1_Missense_Mutation_p.A886V|GPR112_ENST00000370652.1_Missense_Mutation_p.A1091V|GPR112_ENST00000394141.1_Missense_Mutation_p.A886V	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	1091					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)	p.A1091V(1)		NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					ACTTCAGAGGCCACGGTAATC	0.478																																							uc004ezu.1		NA																	1	Substitution - Missense(1)		breast(1)	ovary(5)|large_intestine(2)|skin(2)|lung(1)|breast(1)|pancreas(1)	12						c.(3271-3273)GCC>GTC		G-protein coupled receptor 112							189.0	169.0	176.0					X																	135429137		2203	4300	6503	SO:0001583	missense	139378				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chrX:135429137C>T	AY140954	CCDS35409.1	Xq26.3	2014-08-08			ENSG00000156920	ENSG00000156920		"""-"", ""GPCR / Class B : Orphans"""	18992	protein-coding gene	gene with protein product						12435584	Standard	XM_005262367		Approved	RP1-299I16, PGR17	uc004ezu.1	Q8IZF6	OTTHUMG00000022508	ENST00000394143.1:c.3272C>T	X.37:g.135429137C>T	ENSP00000377699:p.Ala1091Val					GPR112_uc010nsb.1_Missense_Mutation_p.A886V|GPR112_uc010nsc.1_Missense_Mutation_p.A858V	p.A1091V	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN			6	3563	+	Acute lymphoblastic leukemia(192;0.000127)		1091			Extracellular (Potential).		A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Missense_Mutation	SNP	ENST00000394143.1	37	c.3272C>T	CCDS35409.1	.	.	.	.	.	.	.	.	.	.	C	6.468	0.454494	0.12283	.	.	ENSG00000156920	ENST00000394143;ENST00000370652;ENST00000412101;ENST00000287534;ENST00000394141	T;T;T;T;T	0.28666	1.64;1.64;1.6;1.75;1.6	2.46	-2.22	0.06952	.	.	.	.	.	T	0.10895	0.0266	N	0.12746	0.255	0.09310	N	1	B;B;B	0.28713	0.22;0.02;0.012	B;B;B	0.25140	0.058;0.013;0.006	T	0.30297	-0.9983	9	0.06757	T	0.87	.	3.4651	0.07547	0.0:0.2563:0.2217:0.522	.	1028;886;1091	Q8IZF6-2;Q8IZF6-3;Q8IZF6	.;.;GP112_HUMAN	V	1091;1091;886;1028;886	ENSP00000377699:A1091V;ENSP00000359686:A1091V;ENSP00000416526:A886V;ENSP00000287534:A1028V;ENSP00000377697:A886V	ENSP00000287534:A1028V	A	+	2	0	GPR112	135256803	0.000000	0.05858	0.002000	0.10522	0.051000	0.14879	-0.124000	0.10595	-0.592000	0.05851	0.436000	0.28706	GCC		0.478	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000286639.1			83	70	0	0	0	0.00361	0	83	70				
ZIC3	7547	broad.mit.edu	37	X	136649620	136649620	+	Missense_Mutation	SNP	A	A	G			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chrX:136649620A>G	ENST00000287538.5	+	1	1320	c.770A>G	c.(769-771)gAc>gGc	p.D257G	ZIC3_ENST00000370606.3_Missense_Mutation_p.D257G	NM_003413.3	NP_003404.1	O60481	ZIC3_HUMAN	Zic family member 3	257					anterior/posterior pattern specification (GO:0009952)|cell differentiation (GO:0030154)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of left/right asymmetry in nervous system (GO:0035545)|determination of left/right symmetry (GO:0007368)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|heart looping (GO:0001947)|lung development (GO:0030324)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|soft_tissue(2)|urinary_tract(1)	37	Acute lymphoblastic leukemia(192;0.000127)					AAGTGGATCGACGAGGCTCAG	0.622																																							uc004fak.2		NA																	0				ovary(2)|breast(1)	3						c.(769-771)GAC>GGC		zinc finger protein of the cerebellum 3							47.0	46.0	46.0					X																	136649620		2202	4298	6500	SO:0001583	missense	7547				cell differentiation|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chrX:136649620A>G	AF028706	CCDS14663.1	Xq24-q27.1	2013-01-08	2011-05-19		ENSG00000156925	ENSG00000156925		"""Zinc fingers, C2H2-type"""	12874	protein-coding gene	gene with protein product		300265	"""heterotaxy 1"", ""Zic family member 3 (odd-paired homolog, Drosophila)"""	HTX1		8298651, 7747776	Standard	NM_003413		Approved	HTX, ZNF203	uc004fak.3	O60481	OTTHUMG00000022525	ENST00000287538.5:c.770A>G	X.37:g.136649620A>G	ENSP00000287538:p.Asp257Gly						p.D257G	NM_003413	NP_003404	O60481	ZIC3_HUMAN			1	1275	+	Acute lymphoblastic leukemia(192;0.000127)		257			C2H2-type 1; atypical.		B2CNW4|Q14DE5|Q5JY75	Missense_Mutation	SNP	ENST00000287538.5	37	c.770A>G	CCDS14663.1	.	.	.	.	.	.	.	.	.	.	a	15.11	2.737516	0.49045	.	.	ENSG00000156925	ENST00000287538;ENST00000370606	T;T	0.14893	2.47;2.51	4.58	4.58	0.56647	.	0.214226	0.47093	D	0.000244	T	0.18509	0.0444	N	0.20530	0.585	0.54753	D	0.999982	P	0.36599	0.56	P	0.47376	0.545	T	0.07252	-1.0782	10	0.56958	D	0.05	.	11.8858	0.52602	1.0:0.0:0.0:0.0	.	257	O60481	ZIC3_HUMAN	G	257	ENSP00000287538:D257G;ENSP00000359638:D257G	ENSP00000287538:D257G	D	+	2	0	ZIC3	136477286	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.130000	0.94437	1.684000	0.51022	0.483000	0.47432	GAC		0.622	ZIC3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058526.1			10	56	0	0	0	0.001368	0	10	56				
MCF2	4168	broad.mit.edu	37	X	138672050	138672050	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chrX:138672050C>A	ENST00000370576.4	-	20	2523	c.2314G>T	c.(2314-2316)Gat>Tat	p.D772Y	MCF2_ENST00000520602.1_Missense_Mutation_p.D832Y|MCF2_ENST00000338585.6_Missense_Mutation_p.D788Y|MCF2_ENST00000536274.1_Missense_Mutation_p.D733Y|MCF2_ENST00000414978.1_Missense_Mutation_p.D832Y|MCF2_ENST00000370578.4_Missense_Mutation_p.D917Y|MCF2_ENST00000519895.1_Missense_Mutation_p.D848Y|MCF2_ENST00000370573.4_Missense_Mutation_p.D772Y	NM_001171879.1|NM_005369.4	NP_001165350.1|NP_005360.3	P10911	MCF2_HUMAN	MCF.2 cell line derived transforming sequence	772	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				apoptotic signaling pathway (GO:0097190)|dendrite development (GO:0016358)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1)	62	Acute lymphoblastic leukemia(192;0.000127)					TTGCGGTTATCACCTTTTACA	0.299																																							uc004fau.2		NA																	0				lung(1)|pleura(1)	2						c.(2314-2316)GAT>TAT		MCF.2 cell line derived transforming sequence							70.0	65.0	67.0					X																	138672050		2203	4297	6500	SO:0001583	missense	4168				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|membrane|membrane fraction	protein binding|Rho guanyl-nucleotide exchange factor activity	g.chrX:138672050C>A		CCDS14667.1, CCDS48175.1, CCDS55514.1, CCDS55515.1, CCDS55516.1, CCDS55517.1	Xq26.3-q27.1	2012-07-24			ENSG00000101977	ENSG00000101977		"""Rho guanine nucleotide exchange factors"""	6940	protein-coding gene	gene with protein product	"""Oncogene MCF2 (oncogene DBL)"""	311030				2577874, 1611909	Standard	NM_001099855		Approved	DBL, ARHGEF21	uc011mwo.1	P10911	OTTHUMG00000022537	ENST00000370576.4:c.2314G>T	X.37:g.138672050C>A	ENSP00000359608:p.Asp772Tyr					MCF2_uc004fav.2_Missense_Mutation_p.D788Y|MCF2_uc011mwl.1_Missense_Mutation_p.D749Y|MCF2_uc010nsh.1_Missense_Mutation_p.D772Y|MCF2_uc011mwm.1_Missense_Mutation_p.D733Y|MCF2_uc011mwn.1_Missense_Mutation_p.D917Y|MCF2_uc004faw.2_Missense_Mutation_p.D832Y|MCF2_uc011mwo.1_Missense_Mutation_p.D848Y	p.D772Y	NM_005369	NP_005360	P10911	MCF2_HUMAN			20	2608	-	Acute lymphoblastic leukemia(192;0.000127)		772			PH.		B7Z3Y5|B7Z869|B7ZAV1|E9PH77|F5H091|P14919|Q5JYJ2|Q5JYJ3|Q5JYJ4|Q8IUF3|Q8IUF4|Q9UJB3	Missense_Mutation	SNP	ENST00000370576.4	37	c.2314G>T	CCDS14667.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.5|24.5	4.542058|4.542058	0.85917|0.85917	.|.	.|.	ENSG00000101977|ENSG00000101977	ENST00000520602;ENST00000370576;ENST00000536274;ENST00000370578;ENST00000414978;ENST00000446225;ENST00000519895;ENST00000370573;ENST00000338585|ENST00000437564	T;T;T;T;T;T;T;T;T|.	0.15603|.	2.41;2.41;2.41;2.41;2.41;2.41;2.41;2.41;2.41|.	5.93|5.93	5.93|5.93	0.95920|0.95920	Pleckstrin homology-type (1);Pleckstrin homology domain (2);|.	0.042617|.	0.85682|.	D|.	0.000000|.	D|.	0.87815|.	0.6272|.	H|H	0.95151|0.95151	3.63|3.63	0.80722|0.80722	D|D	1|1	D;D;D;D;D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0|.	D;D;D;D;D;D;D;D|.	0.97110|.	0.999;1.0;0.999;0.999;1.0;0.999;1.0;0.999|.	D|.	0.91103|.	0.4916|.	10|.	0.87932|.	D|.	0|.	.|.	18.1417|18.1417	0.89642|0.89642	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	848;917;733;772;772;917;788;772|.	E9PH77;B7Z3Z2;F5H091;B2R9S6;P10911-2;Q5JYJ7;P10911-4;P10911|.	.;.;.;.;.;.;.;MCF2_HUMAN|.	Y|L	832;772;733;917;832;375;848;772;788|275	ENSP00000427745:D832Y;ENSP00000359608:D772Y;ENSP00000438155:D733Y;ENSP00000359610:D917Y;ENSP00000397055:D832Y;ENSP00000405848:D375Y;ENSP00000430276:D848Y;ENSP00000359605:D772Y;ENSP00000342204:D788Y|.	ENSP00000342204:D788Y|.	D|X	-|-	1|2	0|2	MCF2|MCF2	138499716|138499716	1.000000|1.000000	0.71417|0.71417	0.971000|0.971000	0.41717|0.41717	0.985000|0.985000	0.73830|0.73830	6.049000|6.049000	0.71053|0.71053	2.508000|2.508000	0.84585|0.84585	0.544000|0.544000	0.68410|0.68410	GAT|TGA		0.299	MCF2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058560.1	NM_005369		26	37	1	0	9.17885e-22	0.003271	1.3403e-21	26	37				
MAGEC3	139081	broad.mit.edu	37	X	140984910	140984910	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chrX:140984910C>A	ENST00000298296.1	+	7	1366	c.1366C>A	c.(1366-1368)Ctg>Atg	p.L456M	MAGEC3_ENST00000409007.1_Missense_Mutation_p.L158M|MAGEC3_ENST00000443323.2_Missense_Mutation_p.L78M|MAGEC3_ENST00000536088.1_Missense_Mutation_p.L158M|MAGEC3_ENST00000483584.1_3'UTR|MAGEC3_ENST00000544766.1_Missense_Mutation_p.L158M	NM_138702.1	NP_619647.1	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3	456	MAGE 2. {ECO:0000255|PROSITE- ProRule:PRU00127}.									NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					CAGGTATGCCCTGGATGAAAA	0.483																																							uc011mwp.1		NA																	0				skin(2)|central_nervous_system(1)	3						c.(1366-1368)CTG>ATG		melanoma antigen family C, 3 isoform 1							77.0	71.0	73.0					X																	140984910		2203	4300	6503	SO:0001583	missense	139081							g.chrX:140984910C>A	AF490508	CCDS14676.1, CCDS14677.1	Xq27.2	2009-03-25			ENSG00000165509	ENSG00000165509			23798	protein-coding gene	gene with protein product	"""cancer/testis antigen family 7, member 2"""	300469				10861452	Standard	NM_138702		Approved	HCA2, MAGE-C3, CT7.2	uc011mwp.2	Q8TD91	OTTHUMG00000022570	ENST00000298296.1:c.1366C>A	X.37:g.140984910C>A	ENSP00000298296:p.Leu456Met					MAGEC3_uc004fbs.2_Missense_Mutation_p.L158M|MAGEC3_uc010nsj.2_Missense_Mutation_p.L158M	p.L456M	NM_138702	NP_619647	Q8TD91	MAGC3_HUMAN			7	1366	+	Acute lymphoblastic leukemia(192;6.56e-05)		456			MAGE 2.		Q3SYA7|Q5JZ43|Q9BZ80	Missense_Mutation	SNP	ENST00000298296.1	37	c.1366C>A	CCDS14676.1	.	.	.	.	.	.	.	.	.	.	c	12.96	2.093353	0.36952	.	.	ENSG00000165509	ENST00000298296;ENST00000536088;ENST00000443323;ENST00000544766;ENST00000409007	T;T;T;T;T	0.05649	3.43;3.41;3.44;3.41;3.41	1.18	-1.49	0.08718	.	.	.	.	.	T	0.20536	0.0494	M	0.89658	3.05	0.09310	N	1	D;D	0.69078	0.977;0.997	P;D	0.64410	0.815;0.925	T	0.10776	-1.0615	9	0.66056	D	0.02	.	1.6727	0.02815	0.3277:0.4077:0.0:0.2646	.	456;158	Q8TD91;Q3SYA7	MAGC3_HUMAN;.	M	456;158;78;158;158	ENSP00000298296:L456M;ENSP00000441107:L158M;ENSP00000438254:L78M;ENSP00000440444:L158M;ENSP00000386566:L158M	ENSP00000298296:L456M	L	+	1	2	MAGEC3	140812576	0.000000	0.05858	0.000000	0.03702	0.542000	0.35054	-1.141000	0.03207	-0.601000	0.05783	0.179000	0.17066	CTG		0.483	MAGEC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058606.1	NM_138702		4	42	1	0	0.00909568	0.009096	0.00941286	4	42				
MAGEC2	51438	broad.mit.edu	37	X	141291758	141291758	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chrX:141291758C>A	ENST00000247452.3	-	3	363	c.16G>T	c.(16-18)Ggc>Tgc	p.G6C		NM_016249.3	NP_057333.1	Q9UBF1	MAGC2_HUMAN	melanoma antigen family C, 2	6			G -> C (in a breast cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		cellular protein catabolic process (GO:0044257)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ubiquitin protein ligase binding (GO:0031625)	p.G6C(3)		NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)	47	Acute lymphoblastic leukemia(192;6.56e-05)					AATGGAACGCCTGGAACGGGA	0.527										HNSCC(46;0.14)																													uc004fbu.1		NA																	3	Substitution - Missense(3)	p.G6C(2)	breast(3)	breast(2)	2						c.(16-18)GGC>TGC		melanoma antigen family C, 2							111.0	99.0	103.0					X																	141291758		2203	4300	6503	SO:0001583	missense	51438					cytoplasm|nucleus		g.chrX:141291758C>A	AF116195	CCDS14678.1	Xq27	2009-03-25	2004-06-08	2004-06-09	ENSG00000046774	ENSG00000046774			13574	protein-coding gene	gene with protein product	"""cancer/testis antigen 10"""	300468	"""melanoma antigen, family E, 1, cancer/testis specific"""	MAGEE1		10699956	Standard	NM_016249		Approved	CT10, MAGE-C2	uc004fbu.2	Q9UBF1	OTTHUMG00000022574	ENST00000247452.3:c.16G>T	X.37:g.141291758C>A	ENSP00000354660:p.Gly6Cys	HNSCC(46;0.14)					p.G6C	NM_016249	NP_057333	Q9UBF1	MAGC2_HUMAN			3	364	-	Acute lymphoblastic leukemia(192;6.56e-05)		6		G -> C (in a breast cancer sample; somatic mutation).			Q5JZ00|Q96D45|Q9P1M6|Q9P1M7	Missense_Mutation	SNP	ENST00000247452.3	37	c.16G>T	CCDS14678.1	.	.	.	.	.	.	.	.	.	.	-	8.031	0.761805	0.15914	.	.	ENSG00000046774	ENST00000247452	T	0.02177	4.41	0.896	-0.933	0.10431	.	1.477240	0.05420	U	0.544080	T	0.01627	0.0052	N	0.08118	0	0.09310	N	1	D	0.62365	0.991	B	0.43623	0.425	T	0.42050	-0.9474	9	0.87932	D	0	.	.	.	.	.	6	Q9UBF1	MAGC2_HUMAN	C	6	ENSP00000354660:G6C	ENSP00000354660:G6C	G	-	1	0	MAGEC2	141119424	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.154000	0.10130	-0.244000	0.09639	-0.487000	0.04747	GGC		0.527	MAGEC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058611.1	NM_016249		5	82	1	0	0.000157383	0.00308	0.000170569	5	82				
AFF2	2334	broad.mit.edu	37	X	148037617	148037617	+	Missense_Mutation	SNP	G	G	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chrX:148037617G>A	ENST00000370460.2	+	11	2521	c.2042G>A	c.(2041-2043)aGg>aAg	p.R681K	AFF2_ENST00000286437.5_Missense_Mutation_p.R322K|AFF2_ENST00000370457.5_Missense_Mutation_p.R648K|AFF2_ENST00000342251.3_Missense_Mutation_p.R648K	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	681					brain development (GO:0007420)|learning or memory (GO:0007611)|mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)	G-quadruplex RNA binding (GO:0002151)			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					CCAGCCCCTAGGAAAGAACCA	0.493																																							uc004fcp.2		NA																	0				ovary(3)|pancreas(2)	5						c.(2041-2043)AGG>AAG		fragile X mental retardation 2							91.0	95.0	94.0					X																	148037617		2203	4300	6503	SO:0001583	missense	2334				brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding	g.chrX:148037617G>A	U48436	CCDS14684.1, CCDS55521.1, CCDS76040.1	Xq28	2008-02-05	2005-06-27	2005-06-27	ENSG00000155966	ENSG00000155966			3776	protein-coding gene	gene with protein product		300806	"""fragile X mental retardation 2"""	FMR2			Standard	NM_002025		Approved	FRAXE	uc004fcp.3	P51816	OTTHUMG00000022613	ENST00000370460.2:c.2042G>A	X.37:g.148037617G>A	ENSP00000359489:p.Arg681Lys					AFF2_uc004fcq.2_Missense_Mutation_p.R671K|AFF2_uc004fcr.2_Missense_Mutation_p.R642K|AFF2_uc011mxb.1_Missense_Mutation_p.R646K|AFF2_uc004fcs.2_Missense_Mutation_p.R648K|AFF2_uc011mxc.1_Missense_Mutation_p.R322K	p.R681K	NM_002025	NP_002016	P51816	AFF2_HUMAN			11	2521	+	Acute lymphoblastic leukemia(192;6.56e-05)		681					A2RTY4|B4DXD5|B7WNQ1|B7ZLD6|B7ZLD9|O43786|O60215|P78407|Q13521|Q14323|Q7Z2F7|Q7Z400|Q9UNA5	Missense_Mutation	SNP	ENST00000370460.2	37	c.2042G>A	CCDS14684.1	.	.	.	.	.	.	.	.	.	.	G	18.81	3.703169	0.68501	.	.	ENSG00000155966	ENST00000370460;ENST00000370457;ENST00000342251;ENST00000286437	T;T;T;T	0.62639	0.01;0.01;0.01;0.01	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.61702	0.2368	L	0.43701	1.375	0.45594	D	0.998537	P;P;P;P;P;P	0.42296	0.775;0.734;0.734;0.734;0.734;0.775	P;B;B;B;B;P	0.46758	0.526;0.391;0.391;0.391;0.391;0.526	T	0.55829	-0.8079	10	0.10377	T	0.69	.	18.7499	0.91810	0.0:0.0:1.0:0.0	.	322;646;648;642;671;681	B4DXD5;P51816-6;P51816-3;P51816-2;P51816-5;P51816	.;.;.;.;.;AFF2_HUMAN	K	681;648;648;322	ENSP00000359489:R681K;ENSP00000359486:R648K;ENSP00000345459:R648K;ENSP00000286437:R322K	ENSP00000286437:R322K	R	+	2	0	AFF2	147845317	1.000000	0.71417	0.991000	0.47740	0.987000	0.75469	4.733000	0.62036	2.372000	0.80975	0.600000	0.82982	AGG		0.493	AFF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058673.2	NM_002025		41	26	0	0	0	0.00361	0	41	26				
MAGEA3	4102	broad.mit.edu	37	X	151935687	151935687	+	Silent	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chrX:151935687C>A	ENST00000393902.3	-	3	1047	c.480G>T	c.(478-480)ctG>ctT	p.L160L	MAGEA3_ENST00000370278.3_Silent_p.L160L			P43357	MAGA3_HUMAN	melanoma antigen family A, 3	160	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)	15	Acute lymphoblastic leukemia(192;6.56e-05)					TGCCAAAGACCAGCTGCAAGG	0.547																																							uc004fgp.2		NA																	0					0						c.(478-480)CTG>CTT		melanoma antigen family A, 3							123.0	112.0	116.0					X																	151935687		2202	4293	6495	SO:0001819	synonymous_variant	4102							g.chrX:151935687C>A		CCDS76045.1	Xq28	2009-03-13			ENSG00000221867	ENSG00000221867			6801	protein-coding gene	gene with protein product	"""melanoma-associated antigen 3"", ""antigen MZ2-D"", ""MAGE-3 antigen"", ""cancer/testis antigen family 1, member 3"""	300174		MAGE3		1840703, 8575766	Standard	NM_005362		Approved	HYPD, HIP8, MGC14613, CT1.3	uc004fgp.3	P43357	OTTHUMG00000022640	ENST00000393902.3:c.480G>T	X.37:g.151935687C>A							p.L160L	NM_005362	NP_005353	P43357	MAGA3_HUMAN			3	689	-	Acute lymphoblastic leukemia(192;6.56e-05)		160			MAGE.		Q6FHI6	Silent	SNP	ENST00000393902.3	37	c.480G>T	CCDS14715.1																																																																																				0.547	MAGEA3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058744.1	NM_005362		34	48	1	0	5.8336e-16	0.003271	7.96496e-16	34	48				
PNMA5	114824	broad.mit.edu	37	X	152159695	152159695	+	Missense_Mutation	SNP	G	G	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chrX:152159695G>A	ENST00000439251.1	-	2	886	c.448C>T	c.(448-450)Ccg>Tcg	p.P150S	PNMA5_ENST00000535214.1_Missense_Mutation_p.P150S|PNMA5_ENST00000452693.1_Missense_Mutation_p.P150S|PNMA5_ENST00000361887.5_Missense_Mutation_p.P150S	NM_001103150.1	NP_001096620.1	Q96PV4	PNMA5_HUMAN	paraneoplastic Ma antigen family member 5	150					positive regulation of apoptotic process (GO:0043065)					breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25	Acute lymphoblastic leukemia(192;6.56e-05)					CTTTCTTTCGGAGGCTCTAAA	0.542																																							uc010ntw.2		NA																	0				ovary(1)|skin(1)	2						c.(448-450)CCG>TCG		paraneoplastic antigen like 5							136.0	137.0	137.0					X																	152159695		2203	4300	6503	SO:0001583	missense	114824				apoptosis			g.chrX:152159695G>A	AB067521	CCDS14718.1	Xq28	2012-02-09	2012-02-09		ENSG00000198883	ENSG00000198883		"""Paraneoplastic Ma antigens"""	18743	protein-coding gene	gene with protein product	"""paraneoplastic antigen family 5"""	300916	"""paraneoplastic antigen like 5"""			16214224	Standard	NM_052926		Approved	KIAA1934	uc004fgy.4	Q96PV4	OTTHUMG00000024184	ENST00000439251.1:c.448C>T	X.37:g.152159695G>A	ENSP00000388850:p.Pro150Ser					PNMA5_uc004fha.3_Missense_Mutation_p.P150S|PNMA5_uc010ntx.2_Missense_Mutation_p.P150S|PNMA5_uc004fgy.3_Missense_Mutation_p.P150S	p.P150S	NM_001103151	NP_001096621	Q96PV4	PNMA5_HUMAN			3	787	-	Acute lymphoblastic leukemia(192;6.56e-05)		150					B4DI72|B7Z9Y9|Q495L5|Q8NET3	Missense_Mutation	SNP	ENST00000439251.1	37	c.448C>T	CCDS14718.1	.	.	.	.	.	.	.	.	.	.	G	8.263	0.811645	0.16537	.	.	ENSG00000198883	ENST00000361887;ENST00000535214;ENST00000439251;ENST00000452693	T;T;T;T	0.08984	3.03;3.03;3.03;3.03	2.45	-2.07	0.07276	.	.	.	.	.	T	0.04003	0.0112	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.39603	-0.9606	9	0.72032	D	0.01	.	6.1276	0.20187	0.1422:0.5815:0.2763:0.0	.	150	Q96PV4	PNMA5_HUMAN	S	150	ENSP00000354834:P150S;ENSP00000445775:P150S;ENSP00000388850:P150S;ENSP00000392342:P150S	ENSP00000354834:P150S	P	-	1	0	PNMA5	151910351	0.000000	0.05858	0.000000	0.03702	0.101000	0.19017	-0.103000	0.10940	-0.705000	0.05035	0.468000	0.43344	CCG		0.542	PNMA5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060925.1	NM_052926		8	158	0	0	0	0.004482	0	8	158				
PLXNA3	55558	broad.mit.edu	37	X	153692505	153692505	+	Silent	SNP	C	C	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chrX:153692505C>T	ENST00000369682.3	+	8	1852	c.1677C>T	c.(1675-1677)acC>acT	p.T559T		NM_017514.3	NP_059984.3	P51805	PLXA3_HUMAN	plexin A3	559					axon guidance (GO:0007411)|branchiomotor neuron axon guidance (GO:0021785)|facial nerve structural organization (GO:0021612)|hippocampus development (GO:0021766)|multicellular organismal development (GO:0007275)|negative chemotaxis (GO:0050919)|negative regulation of axon extension involved in axon guidance (GO:0048843)|positive regulation of cytoskeleton organization (GO:0051495)|pyramidal neuron development (GO:0021860)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|trigeminal nerve structural organization (GO:0021637)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-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)					CCCAGCTGACCGTCACCCTGC	0.697																																							uc004flm.2		NA																	0				upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3						c.(1675-1677)ACC>ACT		plexin A3 precursor							40.0	31.0	34.0					X																	153692505		2199	4298	6497	SO:0001819	synonymous_variant	55558				axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity	g.chrX:153692505C>T	X74609	CCDS14752.1	Xq28	2008-02-05			ENSG00000130827	ENSG00000130827		"""Plexins"""	9101	protein-coding gene	gene with protein product		300022		PLXN4		8248200, 8733135	Standard	NM_017514		Approved	SEX, XAP-6, 6.3, Plxn3	uc004flm.3	P51805	OTTHUMG00000033290	ENST00000369682.3:c.1677C>T	X.37:g.153692505C>T							p.T559T	NM_017514	NP_059984	P51805	PLXA3_HUMAN			8	1850	+	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-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)		559			Extracellular (Potential).		Q5HY36	Silent	SNP	ENST00000369682.3	37	c.1677C>T	CCDS14752.1																																																																																				0.697	PLXNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081634.1	NM_017514		10	7	0	0	0	0.001368	0	10	7				
TMLHE	55217	broad.mit.edu	37	X	154736707	154736707	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chrX:154736707G>T	ENST00000334398.3	-	6	992	c.847C>A	c.(847-849)Caa>Aaa	p.Q283K	TMLHE-AS1_ENST00000452506.1_RNA|TMLHE_ENST00000369439.4_Missense_Mutation_p.Q283K	NM_018196.3	NP_060666.1	Q9NVH6	TMLH_HUMAN	trimethyllysine hydroxylase, epsilon	283					carnitine biosynthetic process (GO:0045329)|cellular nitrogen compound metabolic process (GO:0034641)|negative regulation of oxidoreductase activity (GO:0051354)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)|trimethyllysine dioxygenase activity (GO:0050353)			breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	20	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Succinic acid(DB00139)|Vitamin C(DB00126)	GGTGCCTTTTGAAGTACCTGT	0.408																																							uc004fnn.2		NA																	0				ovary(1)	1						c.(847-849)CAA>AAA		trimethyllysine hydroxylase, epsilon	Succinic acid(DB00139)|Vitamin C(DB00126)						128.0	121.0	123.0					X																	154736707		2203	4300	6503	SO:0001583	missense	55217				carnitine biosynthetic process	mitochondrial matrix	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|trimethyllysine dioxygenase activity	g.chrX:154736707G>T	AF373407, X97513	CCDS14768.1, CCDS55547.1	Xq28	2006-07-14			ENSG00000185973	ENSG00000185973			18308	protein-coding gene	gene with protein product	"""butyrobetaine (gamma), 2-oxoglutarate dioxygenase (gamma-butyrobetaine hydroxylase) 2"""	300777				8908511, 11431483	Standard	NM_018196		Approved	TMLH, FLJ10727, BBOX2, XAP130	uc004fnn.3	Q9NVH6	OTTHUMG00000022674	ENST00000334398.3:c.847C>A	X.37:g.154736707G>T	ENSP00000335261:p.Gln283Lys					TMLHE_uc004fno.2_Missense_Mutation_p.Q283K|TMLHE_uc004fnp.3_Missense_Mutation_p.Q283K	p.Q283K	NM_018196	NP_060666	Q9NVH6	TMLH_HUMAN			6	1013	-	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		283					A8K6M9|B4E3R3|Q5TZB5|Q6IA90|Q8TBT0	Missense_Mutation	SNP	ENST00000334398.3	37	c.847C>A	CCDS14768.1	.	.	.	.	.	.	.	.	.	.	G	11.65	1.702198	0.30232	.	.	ENSG00000185973	ENST00000334398;ENST00000369439	D;T	0.81908	-1.55;-0.97	4.42	4.42	0.53409	.	0.249192	0.41194	D	0.000931	T	0.71600	0.3359	L	0.28556	0.865	0.36900	D	0.890348	B;B;B	0.33171	0.4;0.363;0.309	B;B;B	0.31245	0.121;0.117;0.126	T	0.71570	-0.4553	10	0.12103	T	0.63	-13.3302	13.9524	0.64126	0.0:0.0:1.0:0.0	.	283;283;283	Q9NVH6-2;A8K6M9;Q9NVH6	.;.;TMLH_HUMAN	K	283	ENSP00000335261:Q283K;ENSP00000358447:Q283K	ENSP00000335261:Q283K	Q	-	1	0	TMLHE	154389901	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	3.509000	0.53386	1.951000	0.56629	0.494000	0.49563	CAA		0.408	TMLHE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058817.1	NM_018196		5	98	1	0	0.000602214	0.000602	0.00064368	5	98				
TAS1R2	80834	broad.mit.edu	37	1	19166744	19166744	+	Frame_Shift_Del	DEL	C	C	-			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr1:19166744delC	ENST00000375371.3	-	6	1890	c.1869delG	c.(1867-1869)gggfs	p.G623fs		NM_152232.2	NP_689418.2	Q8TE23	TS1R2_HUMAN	taste receptor, type 1, member 2	623					detection of chemical stimulus involved in sensory perception of sweet taste (GO:0001582)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cytokinesis (GO:0032467)|sensory perception of sweet taste (GO:0050916)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	protein heterodimerization activity (GO:0046982)|taste receptor activity (GO:0008527)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1)	45		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Aspartame(DB00168)	CCTTGGGCGGCCCCACGTACA	0.607																																							uc001bba.1		NA																	0				skin(2)|ovary(1)|central_nervous_system(1)	4						c.(1867-1869)GGGfs		taste receptor, type 1, member 2 precursor	Aspartame(DB00168)						71.0	72.0	71.0					1																	19166744		2203	4300	6503	SO:0001589	frameshift_variant	80834				detection of chemical stimulus involved in sensory perception of sweet taste	plasma membrane	protein heterodimerization activity|taste receptor activity	g.chr1:19166744delC		CCDS187.1	1p36.13	2012-08-22	2003-03-07		ENSG00000179002	ENSG00000179002		"""Taste receptors / Type 1"", ""GPCR / Unclassified : Taste receptors"""	14905	protein-coding gene	gene with protein product		606226	"""G protein-coupled receptor 71"""	GPR71			Standard	NM_152232		Approved	T1R2, TR2	uc001bba.1	Q8TE23	OTTHUMG00000002442	ENST00000375371.3:c.1869delG	1.37:g.19166744delC	ENSP00000364520:p.Gly623fs						p.G623fs	NM_152232	NP_689418	Q8TE23	TS1R2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	6	1870	-		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)	623			Helical; Name=2; (Potential).		Q5TZ19	Frame_Shift_Del	DEL	ENST00000375371.3	37	c.1869delG	CCDS187.1																																																																																				0.607	TAS1R2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000006953.1			12	94	NA	NA	NA	NA	NA	12	94	---	---	---	---
LRRC7	57554	broad.mit.edu	37	1	70541908	70541908	+	Frame_Shift_Del	DEL	C	C	-			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr1:70541908delC	ENST00000035383.5	+	22	4295	c.4265delC	c.(4264-4266)accfs	p.T1422fs	LRRC7_ENST00000415775.2_Frame_Shift_Del_p.T706fs|LRRC7_ENST00000310961.5_Frame_Shift_Del_p.T1380fs	NM_020794.2	NP_065845.1	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	1422						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						TCACAGGCCACCCGGGGACCT	0.483																																							uc001dep.2		NA																	0				ovary(9)|breast(2)|central_nervous_system(2)|liver(1)	14						c.(4264-4266)ACCfs		leucine rich repeat containing 7							86.0	85.0	85.0					1																	70541908		2203	4300	6503	SO:0001589	frameshift_variant	57554					centrosome|focal adhesion|nucleolus	protein binding	g.chr1:70541908delC		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.4265delC	1.37:g.70541908delC	ENSP00000035383:p.Thr1422fs					LRRC7_uc009wbg.2_Frame_Shift_Del_p.T706fs|LRRC7_uc001deq.2_Frame_Shift_Del_p.T616fs	p.T1422fs	NM_020794	NP_065845	Q96NW7	LRRC7_HUMAN			22	4295	+			1422					Q5VXC2|Q5VXC3|Q68D07|Q86VE8|Q8WX20|Q9P2I2	Frame_Shift_Del	DEL	ENST00000035383.5	37	c.4265delC	CCDS645.1																																																																																				0.483	LRRC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131261.1	NM_020794		31	67	NA	NA	NA	NA	NA	31	67	---	---	---	---
XPR1	9213	broad.mit.edu	37	1	180775672	180775672	+	Frame_Shift_Del	DEL	C	C	-	rs372716949		TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr1:180775672delC	ENST00000367590.4	+	6	858	c.660delC	c.(658-660)gtcfs	p.V220fs	XPR1_ENST00000367589.3_Frame_Shift_Del_p.V220fs	NM_004736.3	NP_004727.2	Q9UBH6	XPR1_HUMAN	xenotropic and polytropic retrovirus receptor 1	220					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)|virus receptor activity (GO:0001618)			breast(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	35						GTTTACGTGTCCCCCCTTTGG	0.393																																							uc001goi.2		NA																	0					0						c.(658-660)GTCfs		xenotropic and polytropic retrovirus receptor							140.0	133.0	135.0					1																	180775672		2203	4300	6503	SO:0001589	frameshift_variant	9213					integral to plasma membrane	G-protein coupled receptor activity	g.chr1:180775672delC	AF099082	CCDS1340.1, CCDS44284.1	1q25.1	2013-07-18	2010-04-23		ENSG00000143324	ENSG00000143324			12827	protein-coding gene	gene with protein product		605237	"""xenotropic and polytropic retrovirus receptor"""			9990033	Standard	NM_004736		Approved	SYG1, X3	uc001goi.3	Q9UBH6	OTTHUMG00000035116	ENST00000367590.4:c.660delC	1.37:g.180775672delC	ENSP00000356562:p.Val220fs					XPR1_uc009wxm.2_Frame_Shift_Del_p.V220fs|XPR1_uc009wxn.2_Frame_Shift_Del_p.V220fs	p.V220fs	NM_004736	NP_004727	Q9UBH6	XPR1_HUMAN			6	852	+			220			Cytoplasmic (Potential).		O95719|Q7L8K9|Q8IW20|Q9NT19|Q9UFB9	Frame_Shift_Del	DEL	ENST00000367590.4	37	c.660delC	CCDS1340.1																																																																																				0.393	XPR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084996.2	NM_004736		49	133	NA	NA	NA	NA	NA	49	133	---	---	---	---
PTPRC	5788	broad.mit.edu	37	1	198673612	198673613	+	In_Frame_Ins	INS	-	-	GTG			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr1:198673612_198673613insGTG	ENST00000367376.2	+	8	835_836	c.664_665insGTG	c.(664-666)tct>tGTGct	p.222_222S>CA	PTPRC_ENST00000348564.6_In_Frame_Ins_p.63_63S>CA|PTPRC_ENST00000352140.3_In_Frame_Ins_p.174_174S>CA|PTPRC_ENST00000594404.1_In_Frame_Ins_p.61_61S>CA|PTPRC_ENST00000442510.2_In_Frame_Ins_p.224_224S>CA	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	222					axon guidance (GO:0007411)|B cell proliferation (GO:0042100)|B cell receptor signaling pathway (GO:0050853)|bone marrow development (GO:0048539)|cell cycle phase transition (GO:0044770)|cell surface receptor signaling pathway (GO:0007166)|defense response to virus (GO:0051607)|dephosphorylation (GO:0016311)|hematopoietic progenitor cell differentiation (GO:0002244)|immunoglobulin biosynthetic process (GO:0002378)|negative regulation of cell adhesion involved in substrate-bound cell migration (GO:0006933)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of antigen receptor-mediated signaling pathway (GO:0050857)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of hematopoietic stem cell migration (GO:2000473)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of T cell proliferation (GO:0042102)|protein dephosphorylation (GO:0006470)|regulation of cell cycle (GO:0051726)|release of sequestered calcium ion into cytosol (GO:0051209)|stem cell development (GO:0048864)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						TACTACTCCATCTAAGCCAACA	0.317																																							uc001gur.1		NA																	0				breast(4)|skin(3)|ovary(2)|lung(1)|kidney(1)|pancreas(1)	12						c.(664-666)TCT>TGTGCT		protein tyrosine phosphatase, receptor type, C																																				SO:0001652	inframe_insertion	5788				axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr1:198673612_198673613insGTG	Y00062	CCDS1397.1, CCDS1398.1, CCDS44291.1, CCDS1397.2, CCDS1398.2, CCDS44291.2	1q31-q32	2014-09-17			ENSG00000081237	ENSG00000081237		"""CD molecules"", ""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9666	protein-coding gene	gene with protein product		151460		CD45		2169617	Standard	NM_001267798		Approved	LCA, T200, GP180	uc001gur.2	P08575	OTTHUMG00000035702	Exception_encountered	1.37:g.198673612_198673613insGTG	ENSP00000356346:p.Ser222delinsCysAla					PTPRC_uc001gus.1_In_Frame_Ins_p.174_174S>CA|PTPRC_uc001gut.1_In_Frame_Ins_p.61_61S>CA|PTPRC_uc009wzf.1_In_Frame_Ins_p.110_110S>CA|PTPRC_uc010ppg.1_In_Frame_Ins_p.158_158S>CA	p.222_222S>CA	NM_002838	NP_002829	P08575	PTPRC_HUMAN			8	844_845	+			222			Extracellular (Potential).		A8K7W6|Q16614|Q9H0Y6	In_Frame_Ins	INS	ENST00000367376.2	37	c.664_665insGTG																																																																																					0.317	PTPRC-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding				10	58	NA	NA	NA	NA	NA	10	58	---	---	---	---
MGEA5	10724	broad.mit.edu	37	10	103577682	103577682	+	Frame_Shift_Del	DEL	G	G	-			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr10:103577682delG	ENST00000361464.3	-	1	493	c.98delC	c.(97-99)gcafs	p.A34fs	MGEA5_ENST00000370094.3_Frame_Shift_Del_p.A34fs|MGEA5_ENST00000419011.2_Frame_Shift_Del_p.A34fs|KCNIP2-AS1_ENST00000412353.1_RNA|MGEA5_ENST00000439817.1_Frame_Shift_Del_p.A34fs|MGEA5_ENST00000357797.5_Frame_Shift_Del_p.A34fs	NM_012215.3	NP_036347.1	O60502	OGA_HUMAN	meningioma expressed antigen 5 (hyaluronidase)	34					aging (GO:0007568)|dATP metabolic process (GO:0046060)|glycoprotein catabolic process (GO:0006516)|N-acetylglucosamine metabolic process (GO:0006044)|necrotic cell death (GO:0070265)|negative regulation of cardiac muscle adaptation (GO:0010616)|negative regulation of protein glycosylation (GO:0060051)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of cell killing (GO:0031343)|positive regulation of DNA metabolic process (GO:0051054)|positive regulation of glucose import (GO:0046326)|positive regulation of growth hormone secretion (GO:0060124)|positive regulation of insulin secretion (GO:0032024)|positive regulation of mitochondrial depolarization (GO:0051901)|positive regulation of protein complex disassembly (GO:0043243)|positive regulation of proteolysis (GO:0045862)|protein targeting to membrane (GO:0006612)|response to steroid hormone (GO:0048545)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	histone acetyltransferase activity (GO:0004402)|hyalurononglucosaminidase activity (GO:0004415)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	23		Colorectal(252;0.207)		Epithelial(162;4.67e-09)|all cancers(201;2.54e-07)		TGCCGGAGCTGCCGGCGGCTC	0.716																																							uc001ktv.2		NA																	0				ovary(2)|skin(1)	3						c.(97-99)GCAfs		meningioma expressed antigen 5 (hyaluronidase)							6.0	8.0	7.0					10																	103577682		2153	4189	6342	SO:0001589	frameshift_variant	10724				glycoprotein catabolic process	cytoplasm|nucleus	histone acetyltransferase activity|hyalurononglucosaminidase activity	g.chr10:103577682delG	AF036144	CCDS7520.1, CCDS44471.1	10q24.1-q24.3	2008-08-01			ENSG00000198408	ENSG00000198408			7056	protein-coding gene	gene with protein product	"""nuclear cytoplasmic O-GlcNAcase and acetyltransferase"""	604039				9811929, 16356930	Standard	NM_012215		Approved	MEA5, NCOAT, OGA	uc001ktv.2	O60502	OTTHUMG00000018939	ENST00000361464.3:c.98delC	10.37:g.103577682delG	ENSP00000354850:p.Ala34fs					MGEA5_uc010qqe.1_Frame_Shift_Del_p.A33fs|MGEA5_uc009xws.2_Frame_Shift_Del_p.A33fs|MGEA5_uc001ktw.2_Frame_Shift_Del_p.A33fs|MGEA5_uc009xwt.2_5'UTR|MGEA5_uc010qqf.1_RNA	p.A33fs	NM_012215	NP_036347	O60502	NCOAT_HUMAN		Epithelial(162;4.67e-09)|all cancers(201;2.54e-07)	1	541	-		Colorectal(252;0.207)	33					B7WPB9|D3DR79|E9PGF9|O75166|Q86WV0|Q8IV98|Q9BVA5|Q9HAR0	Frame_Shift_Del	DEL	ENST00000361464.3	37	c.98delC	CCDS7520.1																																																																																				0.716	MGEA5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049987.1	NM_012215		2	4	NA	NA	NA	NA	NA	2	4	---	---	---	---
NLRP6	171389	broad.mit.edu	37	11	281553	281555	+	In_Frame_Del	DEL	GAG	GAG	-	rs377505007		TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	GAG	GAG	-	-	GAG	GAG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr11:281553_281555delGAG	ENST00000312165.5	+	4	1819_1821	c.1819_1821delGAG	c.(1819-1821)gagdel	p.E611del	NLRP6_ENST00000534750.1_In_Frame_Del_p.E611del	NM_138329.1	NP_612202.2	P59044	NALP6_HUMAN	NLR family, pyrin domain containing 6	611	Poly-Glu.				G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of immune response (GO:0050777)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|regulation of inflammatory response (GO:0050727)|response to bacterium (GO:0009617)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|vasopressin receptor activity (GO:0005000)			breast(1)|skin(1)|upper_aerodigestive_tract(2)	4		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122)		CGAAGAGCCAGAGGAGGAGGAGG	0.67																																							uc010qvs.1		NA																	0				upper_aerodigestive_tract(1)|skin(1)	2						c.(1819-1821)GAGdel		NLR family, pyrin domain containing 6																																				SO:0001651	inframe_deletion	171389					cytoplasm	ATP binding	g.chr11:281553_281555delGAG	AF479748	CCDS7693.1, CCDS60680.1	11p15	2006-12-08	2006-12-08	2006-12-08	ENSG00000174885	ENSG00000174885		"""Nucleotide-binding domain and leucine rich repeat containing"""	22944	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 6"""	609650	"""NACHT, leucine rich repeat and PYD containing 6"""	NALP6		12563287, 12019269	Standard	NM_138329		Approved	PYPAF5, PAN3, CLR11.4	uc010qvs.3	P59044	OTTHUMG00000119070	ENST00000312165.5:c.1819_1821delGAG	11.37:g.281562_281564delGAG	ENSP00000309767:p.Glu611del					NLRP6_uc010qvt.1_In_Frame_Del_p.E611del	p.E611del	NM_138329	NP_612202	P59044	NALP6_HUMAN		all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122)	4	1819_1821	+		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	611			Poly-Glu.		A8K9F3|E9PJZ8	In_Frame_Del	DEL	ENST00000312165.5	37	c.1819_1821delGAG	CCDS7693.1																																																																																				0.670	NLRP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239283.1	NM_138329		7	189	NA	NA	NA	NA	NA	7	189	---	---	---	---
TP53I11	9537	broad.mit.edu	37	11	44956516	44956516	+	Frame_Shift_Del	DEL	C	C	-			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr11:44956516delC	ENST00000533940.1	-	10	1093	c.489delG	c.(487-489)ctgfs	p.L165fs	TP53I11_ENST00000525680.1_Frame_Shift_Del_p.L165fs|TP53I11_ENST00000531130.2_5'Flank|TP53I11_ENST00000308212.5_Frame_Shift_Del_p.L165fs|TP53I11_ENST00000395648.3_Frame_Shift_Del_p.L165fs	NM_001258320.1	NP_001245249.1	O14683	P5I11_HUMAN	tumor protein p53 inducible protein 11	165	Poly-Leu.				negative regulation of cell proliferation (GO:0008285)|response to stress (GO:0006950)	integral component of membrane (GO:0016021)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|ovary(1)	5						TGACCAGGAGCAGCAGGATCC	0.602																																							uc001myi.2		NA																	0				ovary(1)	1						c.(487-489)CTGfs		p53-induced protein							121.0	113.0	116.0					11																	44956516		2203	4299	6502	SO:0001589	frameshift_variant	9537				negative regulation of cell proliferation|response to stress	integral to membrane		g.chr11:44956516delC	AF010315	CCDS7911.1	11p11.2	2005-09-22				ENSG00000175274			16842	protein-coding gene	gene with protein product						9305847	Standard	NM_006034		Approved	PIG11	uc001myk.3	O14683		ENST00000533940.1:c.489delG	11.37:g.44956516delC	ENSP00000436152:p.Leu165fs					TP53I11_uc001myf.1_Intron|TP53I11_uc001myj.2_Frame_Shift_Del_p.L163fs|TP53I11_uc001myk.2_Frame_Shift_Del_p.L163fs|TP53I11_uc001myl.2_Frame_Shift_Del_p.L163fs|TP53I11_uc001mym.2_Frame_Shift_Del_p.L110fs	p.L163fs	NM_006034	NP_006025	O14683	P5I11_HUMAN			10	1094	-			163			Poly-Leu.|Helical; (Potential).		Q3ZCS0	Frame_Shift_Del	DEL	ENST00000533940.1	37	c.489delG	CCDS7911.1																																																																																				0.602	TP53I11-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389909.1	NM_006034		28	140	NA	NA	NA	NA	NA	28	140	---	---	---	---
STX5	6811	broad.mit.edu	37	11	62591720	62591724	+	Frame_Shift_Del	DEL	TGTTC	TGTTC	-	rs375594933		TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	TGTTC	TGTTC	-	-	TGTTC	TGTTC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr11:62591720_62591724delTGTTC	ENST00000294179.3	-	10	975_979	c.822_826delGAACA	c.(820-828)cagaacattfs	p.QNI274fs	STX5_ENST00000541317.1_Frame_Shift_Del_p.QNI178fs|STX5_ENST00000394690.1_Frame_Shift_Del_p.QNI220fs|STX5_ENST00000377897.4_Frame_Shift_Del_p.QNI274fs	NM_001244666.1|NM_003164.4	NP_001231595.1|NP_003155.2	Q13190	STX5_HUMAN	syntaxin 5	274	t-SNARE coiled-coil homology. {ECO:0000255|PROSITE-ProRule:PRU00202}.				ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|retrograde transport, endosome to Golgi (GO:0042147)|vesicle fusion with Golgi apparatus (GO:0048280)|vesicle targeting (GO:0006903)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|SNARE complex (GO:0031201)	protein N-terminus binding (GO:0047485)|SNAP receptor activity (GO:0005484)			breast(2)|endometrium(2)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	18						GTCGACTCAATGTTCTGCATGGTGT	0.493																																							uc001nvh.2		NA																	0				ovary(1)|breast(1)	2						c.(820-828)CAGAACATTfs		syntaxin 5																																				SO:0001589	frameshift_variant	6811				intracellular protein transport|retrograde transport, endosome to Golgi|vesicle targeting	ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|nucleus|SNARE complex	protein N-terminus binding|SNAP receptor activity	g.chr11:62591720_62591724delTGTTC	U26648	CCDS8038.2, CCDS58140.1	11q12.3	2008-02-05	2006-04-25	2006-04-25	ENSG00000162236	ENSG00000162236			11440	protein-coding gene	gene with protein product		603189	"""syntaxin 5A"""	STX5A		9188044, 11959998	Standard	NM_003164		Approved	SED5	uc001nvh.3	Q13190	OTTHUMG00000143864	ENST00000294179.3:c.822_826delGAACA	11.37:g.62591720_62591724delTGTTC	ENSP00000294179:p.Gln274fs					STX5_uc010rmi.1_Frame_Shift_Del_p.Q178fs|STX5_uc009yoh.2_RNA|STX5_uc001nvi.2_Frame_Shift_Del_p.Q220fs|STX5_uc010rmj.1_Frame_Shift_Del_p.Q274fs|STX5_uc001nvj.2_Frame_Shift_Del_p.Q89fs	p.Q274fs	NM_003164	NP_003155	Q13190	STX5_HUMAN			10	976_980	-			274_276			t-SNARE coiled-coil homology.|Cytoplasmic (Potential).		B2R8T2|F8W8Q9|Q5U0D4|Q7Z3T6|Q9BUG1	Frame_Shift_Del	DEL	ENST00000294179.3	37	c.822_826delGAACA	CCDS8038.2																																																																																				0.493	STX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000290113.1	NM_003164		12	159	NA	NA	NA	NA	NA	12	159	---	---	---	---
CTSF	8722	broad.mit.edu	37	11	66331419	66331420	+	Frame_Shift_Del	DEL	CG	CG	-	rs397514733		TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	CG	CG	-	-	CG	CG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr11:66331419_66331420delCG	ENST00000310325.5	-	13	1548_1549	c.1439_1440delCG	c.(1438-1440)tcgfs	p.S480fs	ACTN3_ENST00000513398.1_RNA|CTSF_ENST00000533168.1_5'Flank|ACTN3_ENST00000502692.1_RNA	NM_003793.3	NP_003784.2	Q9UBX1	CATF_HUMAN	cathepsin F	480			S -> L (in CLN13). {ECO:0000269|PubMed:23297359}.	SDVPFWAIKNSWGTDWGEKGYYYLHRGSGACGVNTMASSAV VD -> EFRCLSCIQPGHRQGWDHSISGPLEGK (in Ref. 9). {ECO:0000305}.	antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|proteolysis (GO:0006508)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|vesicle (GO:0031982)	cysteine-type endopeptidase activity (GO:0004197)			endometrium(1)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	19						CCACCACCGCCGAGCTGGCCAT	0.673																																							uc001oip.2		NA																	0					0						c.(1438-1440)TCGfs		cathepsin F precursor																																				SO:0001589	frameshift_variant	8722				proteolysis	lysosome	cysteine-type endopeptidase activity	g.chr11:66331419_66331420delCG	AF071749	CCDS8144.1	11q13.2	2012-02-29			ENSG00000174080	ENSG00000174080		"""Cathepsins"""	2531	protein-coding gene	gene with protein product		603539				9822672, 10318784	Standard	NM_003793		Approved	CATSF, CLN13	uc001oip.3	Q9UBX1	OTTHUMG00000167090	ENST00000310325.5:c.1439_1440delCG	11.37:g.66331419_66331420delCG	ENSP00000310832:p.Ser480fs						p.S480fs	NM_003793	NP_003784	Q9UBX1	CATF_HUMAN			13	1529_1530	-			480	SDVPFWAIKNSWGTDWGEKGYYYLHRGSGACGVNTMASSAV VD -> EFRCLSCIQPGHRQGWDHSISGPLEGK (in Ref. 9).				B2R964|O95240|Q9NSU4|Q9UKQ5	Frame_Shift_Del	DEL	ENST00000310325.5	37	c.1439_1440delCG	CCDS8144.1																																																																																				0.673	CTSF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393047.1	NM_003793		10	41	NA	NA	NA	NA	NA	10	41	---	---	---	---
B4GALNT1	2583	broad.mit.edu	37	12	58025102	58025103	+	Frame_Shift_Ins	INS	-	-	C			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr12:58025102_58025103insC	ENST00000341156.4	-	3	847_848	c.263_264insG	c.(262-264)ggcfs	p.G88fs	B4GALNT1_ENST00000552350.1_Frame_Shift_Ins_p.G88fs|B4GALNT1_ENST00000550943.1_Intron|B4GALNT1_ENST00000550764.1_Frame_Shift_Ins_p.G88fs|B4GALNT1_ENST00000449184.3_Frame_Shift_Ins_p.G88fs|B4GALNT1_ENST00000418555.2_Intron	NM_001478.3	NP_001469.1	Q00973	B4GN1_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 1	88					carbohydrate metabolic process (GO:0005975)|cell death (GO:0008219)|ganglioside biosynthetic process (GO:0001574)|glycosphingolipid metabolic process (GO:0006687)|lipid glycosylation (GO:0030259)|lipid storage (GO:0019915)|protein glycosylation (GO:0006486)|spermatogenesis (GO:0007283)	integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)|plasma membrane (GO:0005886)	(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase activity (GO:0003947)	p.G88fs*24(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|urinary_tract(1)	20	Melanoma(17;0.122)		BRCA - Breast invasive adenocarcinoma(9;0.109)			GGAGGGGGAGGCCCCCCCCACT	0.589																																							uc001spg.1		NA																	1	Deletion - Frameshift(1)		large_intestine(1)		0						c.(262-264)GGCfs		beta-1,4-N-acetyl-galactosaminyl transferase 1				32,4228		0,32,2098						1.8	0.0			83	25,8229		0,25,4102	no	frameshift	B4GALNT1	NM_001478.3		0,57,6200	A1A1,A1R,RR		0.3029,0.7512,0.4555				57,12457				SO:0001589	frameshift_variant	2583				lipid glycosylation	integral to Golgi membrane|membrane fraction	(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase activity	g.chr12:58025102_58025103insC	M83651	CCDS8950.1, CCDS61170.1, CCDS61171.1	12q13.3	2013-09-11	2006-01-08	2006-01-08	ENSG00000135454	ENSG00000135454	2.4.1.92	"""Beta 4-glycosyltransferases"", ""Glycosyltransferase family 2 domain containing"""	4117	protein-coding gene	gene with protein product	"""GD2 synthase, GM2 synthase"""	601873	"""UDP-N-acetyl-alpha-D-galactosamine:(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase (GalNAc-T)"", ""UDP-Gal:betaGlcNAc beta-1,4-N-acetylgalactosaminyltransferase transferase 1"", ""spastic paraplegia 26"""	GALGT, SPG26		1601877, 23746551	Standard	NM_001478		Approved	beta1-4GalNAc-T	uc001spg.2	Q00973	OTTHUMG00000170190	ENST00000341156.4:c.264dupG	12.37:g.58025110_58025110dupC	ENSP00000341562:p.Gly88fs					B4GALNT1_uc010sru.1_Intron|B4GALNT1_uc010srv.1_Frame_Shift_Ins_p.G88fs|B4GALNT1_uc001sph.2_Frame_Shift_Ins_p.G88fs|B4GALNT1_uc001spi.2_Frame_Shift_Ins_p.G88fs|B4GALNT1_uc010srw.1_Frame_Shift_Ins_p.G165fs	p.G88fs	NM_001478	NP_001469	Q00973	B4GN1_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.109)		3	695_696	-	Melanoma(17;0.122)		88			Lumenal (Potential).		B4DE26|Q8N636	Frame_Shift_Ins	INS	ENST00000341156.4	37	c.263_264insG	CCDS8950.1																																																																																				0.589	B4GALNT1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407853.1	NM_001478		9	298	NA	NA	NA	NA	NA	9	298	---	---	---	---
NFATC4	4776	broad.mit.edu	37	14	24845275	24845275	+	Frame_Shift_Del	DEL	G	G	-			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr14:24845275delG	ENST00000250373.4	+	8	2165	c.2024delG	c.(2023-2025)cgcfs	p.R675fs	NFATC4_ENST00000555453.1_Frame_Shift_Del_p.R663fs|NFATC4_ENST00000554661.1_Frame_Shift_Del_p.R605fs|NFATC4_ENST00000422617.3_Frame_Shift_Del_p.R663fs|NFATC4_ENST00000555167.1_Frame_Shift_Del_p.R210fs|NFATC4_ENST00000424781.2_Frame_Shift_Del_p.R688fs|NFATC4_ENST00000556279.1_Frame_Shift_Del_p.R707fs|NFATC4_ENST00000555802.1_5'UTR|NFATC4_ENST00000557451.1_Frame_Shift_Del_p.R605fs|NFATC4_ENST00000553879.1_Frame_Shift_Del_p.R605fs|NFATC4_ENST00000413692.2_Frame_Shift_Del_p.R738fs|NFATC4_ENST00000554966.1_Frame_Shift_Del_p.R688fs|NFATC4_ENST00000539237.2_Frame_Shift_Del_p.R707fs|NFATC4_ENST00000553469.1_Frame_Shift_Del_p.R707fs|NFATC4_ENST00000554591.1_Frame_Shift_Del_p.R738fs|NFATC4_ENST00000554473.1_Frame_Shift_Del_p.R210fs|NFATC4_ENST00000556759.1_Frame_Shift_Del_p.R210fs|NFATC4_ENST00000554050.1_Frame_Shift_Del_p.R675fs|NFATC4_ENST00000554344.1_Frame_Shift_Del_p.R605fs|NFATC4_ENST00000553708.1_Frame_Shift_Del_p.R675fs|NFATC4_ENST00000556169.1_Frame_Shift_Del_p.R663fs|NFATC4_ENST00000555393.1_5'UTR|NFATC4_ENST00000557767.1_5'UTR|NFATC4_ENST00000555590.1_Frame_Shift_Del_p.R688fs	NM_004554.4	NP_004545.2	Q14934	NFAC4_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4	675	IPT/TIG.				cellular respiration (GO:0045333)|cellular response to lithium ion (GO:0071285)|cellular response to UV (GO:0034644)|heart development (GO:0007507)|inflammatory response (GO:0006954)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|muscle cell development (GO:0055001)|patterning of blood vessels (GO:0001569)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of synaptic plasticity (GO:0048167)|smooth muscle cell differentiation (GO:0051145)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	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)|transcription coactivator activity (GO:0003713)	p.R675H(1)|p.R738H(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(7)|liver(4)|lung(12)|ovary(1)|skin(2)	34				GBM - Glioblastoma multiforme(265;0.018)		CGGAGGAAACGCAGTCCTACC	0.587																																							uc001wpc.2		NA																	2	Substitution - Missense(2)		endometrium(2)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(2023-2025)CGCfs		nuclear factor of activated T-cells,							109.0	118.0	115.0					14																	24845275		2203	4300	6503	SO:0001589	frameshift_variant	4776				cell differentiation|inflammatory response|transcription from RNA polymerase II promoter	cytoplasm|intermediate filament cytoskeleton|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr14:24845275delG	BC053855	CCDS9629.1, CCDS45089.1, CCDS55909.1, CCDS55910.1, CCDS55911.1, CCDS73625.1	14q11.2	2009-11-24			ENSG00000100968	ENSG00000100968		"""Nuclear factor of activated T-cells"""	7778	protein-coding gene	gene with protein product		602699				7749981	Standard	NM_004554		Approved	NFAT3	uc010tok.2	Q14934	OTTHUMG00000029351	ENST00000250373.4:c.2024delG	14.37:g.24845275delG	ENSP00000250373:p.Arg675fs					NFATC4_uc010tok.1_Frame_Shift_Del_p.R738fs|NFATC4_uc010tol.1_Frame_Shift_Del_p.R738fs|NFATC4_uc010alr.2_Frame_Shift_Del_p.R738fs|NFATC4_uc010tom.1_Frame_Shift_Del_p.R688fs|NFATC4_uc010ton.1_Frame_Shift_Del_p.R688fs|NFATC4_uc010too.1_Frame_Shift_Del_p.R688fs|NFATC4_uc010alt.2_Frame_Shift_Del_p.R707fs|NFATC4_uc010top.1_Frame_Shift_Del_p.R707fs|NFATC4_uc010toq.1_Frame_Shift_Del_p.R707fs|NFATC4_uc010tor.1_Frame_Shift_Del_p.R675fs|NFATC4_uc010tos.1_Frame_Shift_Del_p.R605fs|NFATC4_uc010tot.1_Frame_Shift_Del_p.R663fs|NFATC4_uc010tou.1_Frame_Shift_Del_p.R605fs|NFATC4_uc010tov.1_Frame_Shift_Del_p.R663fs|NFATC4_uc010tow.1_Frame_Shift_Del_p.R605fs|NFATC4_uc010alv.2_Frame_Shift_Del_p.R663fs|NFATC4_uc010tox.1_Frame_Shift_Del_p.R605fs|NFATC4_uc001wpd.2_Frame_Shift_Del_p.R210fs|NFATC4_uc010toy.1_Frame_Shift_Del_p.R210fs|NFATC4_uc010toz.1_Frame_Shift_Del_p.R210fs|NFATC4_uc010tpa.1_5'UTR|NFATC4_uc010tpb.1_5'UTR	p.R675fs	NM_004554	NP_004545	Q14934	NFAC4_HUMAN		GBM - Glioblastoma multiforme(265;0.018)	8	2345	+			675			IPT/TIG.		B4DDG5|B4DY55|B5B2U7|B5B2U8|B5B2U9|B5B2V0|B5B2V1|B5B2V2|B5B2V3|B5B2V4|B5B2V5|B5B2V7|B5B2V8|B5B2V9|B5B2W0|B5B2W1|B5B2W2|B5B2W3|B5B2W4|B5B2W5|B5B2W6|B5B2W7|B5B2W8|B5B2W9|B5B2X0|Q7Z598|Q96H68	Frame_Shift_Del	DEL	ENST00000250373.4	37	c.2024delG	CCDS9629.1																																																																																				0.587	NFATC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000073206.6	NM_004554		64	173	NA	NA	NA	NA	NA	64	173	---	---	---	---
FLRT2	23768	broad.mit.edu	37	14	86088794	86088795	+	Frame_Shift_Ins	INS	-	-	T	rs267604072		TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr14:86088794_86088795insT	ENST00000330753.4	+	2	1703_1704	c.936_937insT	c.(937-939)tttfs	p.F313fs	FLRT2_ENST00000554746.1_Frame_Shift_Ins_p.F313fs	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	313	LRRCT.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|intracellular signal transduction (GO:0035556)|regulation of neuron migration (GO:2001222)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	chemorepellent activity (GO:0045499)|protein binding, bridging (GO:0030674)|receptor signaling protein activity (GO:0005057)			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		ATAACCCTTGGTTTTGTGACTG	0.47																																							uc001xvr.2		NA																	0				ovary(3)|haematopoietic_and_lymphoid_tissue(1)	4						c.(934-939)TGGTTTfs		fibronectin leucine rich transmembrane protein 2																																				SO:0001589	frameshift_variant	23768				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity	g.chr14:86088794_86088795insT	AF169676	CCDS9877.1	14q24-q32	2013-02-11				ENSG00000185070		"""Fibronectin type III domain containing"""	3761	protein-coding gene	gene with protein product		604807				10644439, 16872596	Standard	XM_005267490		Approved		uc001xvr.3	O43155		ENST00000330753.4:c.940dupT	14.37:g.86088798_86088798dupT	ENSP00000332879:p.Phe313fs					FLRT2_uc010atd.2_Frame_Shift_Ins_p.W312fs	p.W312fs	NM_013231	NP_037363	O43155	FLRT2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0319)	2	1703_1704	+			312_313			Extracellular (Potential).|LRRCT.		A0AV84|B7ZLP3	Frame_Shift_Ins	INS	ENST00000330753.4	37	c.936_937insT	CCDS9877.1																																																																																				0.470	FLRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413193.1			69	248	NA	NA	NA	NA	NA	69	248	---	---	---	---
NAGPA	51172	broad.mit.edu	37	16	5083678	5083679	+	Frame_Shift_Del	DEL	GC	GC	-			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	GC	GC	-	-	GC	GC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr16:5083678_5083679delGC	ENST00000312251.3	-	2	156_157	c.137_138delGC	c.(136-138)cgcfs	p.R46fs	NAGPA_ENST00000381955.3_Frame_Shift_Del_p.R46fs|ALG1_ENST00000588623.1_5'Flank|RP11-165E7.1_ENST00000588778.1_RNA|NAGPA_ENST00000564922.1_5'UTR	NM_016256.3	NP_057340.2	Q9UK23	NAGPA_HUMAN	N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase	46					carbohydrate metabolic process (GO:0005975)|cellular protein modification process (GO:0006464)|lysosome organization (GO:0007040)|protein glycosylation (GO:0006486)|protein targeting to lysosome (GO:0006622)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase activity (GO:0003944)			endometrium(4)|large_intestine(4)|lung(3)|urinary_tract(1)	12					N-Acetyl-D-glucosamine(DB00141)	CCCGGGGGAGGCGCGCGCGCGC	0.767																																							uc002cyg.2		NA																	0					0						c.(136-138)CGCfs		N-acetylglucosamine-1-phosphodiester	N-Acetyl-D-glucosamine(DB00141)			96,2314		9,78,1118						-9.7	0.0			9	252,5272		19,214,2529	no	frameshift	NAGPA	NM_016256.3		28,292,3647	A1A1,A1R,RR		4.5619,3.9834,4.3862				348,7586				SO:0001589	frameshift_variant	51172				carbohydrate metabolic process|lysosome organization|protein modification process|protein targeting to lysosome	Golgi cisterna membrane|integral to membrane	N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase activity	g.chr16:5083678_5083679delGC	AF187072	CCDS10527.1	16p13.3	2008-02-05			ENSG00000103174	ENSG00000103174	3.1.4.45		17378	protein-coding gene	gene with protein product		607985				10551838, 12058031	Standard	NM_016256		Approved	APAA, UCE	uc002cyg.3	Q9UK23	OTTHUMG00000090515	ENST00000312251.3:c.137_138delGC	16.37:g.5083688_5083689delGC	ENSP00000310998:p.Arg46fs					ALG1_uc002cyj.2_5'Flank|NAGPA_uc002cyf.2_5'UTR|NAGPA_uc002cyh.2_RNA|NAGPA_uc002cyi.2_5'UTR|NAGPA_uc010uxx.1_Frame_Shift_Del_p.R46fs	p.R46fs	NM_016256	NP_057340	Q9UK23	NAGPA_HUMAN			2	158_159	-			46			Lumenal (Potential).		B2RAS1|Q96EJ8	Frame_Shift_Del	DEL	ENST00000312251.3	37	c.137_138delGC	CCDS10527.1																																																																																				0.767	NAGPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207003.1	NM_016256		8	37	NA	NA	NA	NA	NA	8	37	---	---	---	---
CBFA2T3	863	broad.mit.edu	37	16	88943549	88943549	+	Frame_Shift_Del	DEL	G	G	-			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr16:88943549delG	ENST00000268679.4	-	12	2193	c.1797delC	c.(1795-1797)cccfs	p.P599fs	CBFA2T3_ENST00000327483.5_Frame_Shift_Del_p.P513fs|CBFA2T3_ENST00000448839.1_Frame_Shift_Del_p.P523fs|CBFA2T3_ENST00000360302.2_Frame_Shift_Del_p.P513fs|CBFA2T3_ENST00000436887.2_Frame_Shift_Del_p.P561fs	NM_005187.5	NP_005178.4	O75081	MTG16_HUMAN	core-binding factor, runt domain, alpha subunit 2; translocated to, 3	599					cell proliferation (GO:0008283)|granulocyte differentiation (GO:0030851)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17				BRCA - Breast invasive adenocarcinoma(80;0.0275)		CCACGGCTGTGGGGCCCTGCA	0.721			T	RUNX1	AML																																		uc002fmm.1		NA		Dom	yes		16	16q24	863	T	"""core-binding factor, runt domain, alpha subunit 2; translocated to, 3 (MTG-16)"""			L	RUNX1		AML		0				large_intestine(3)|ovary(1)	4						c.(1795-1797)CCCfs		myeloid translocation gene on chromosome 16							8.0	8.0	8.0					16																	88943549		2081	4066	6147	SO:0001589	frameshift_variant	863				cell proliferation|granulocyte differentiation	Golgi membrane|nucleolus|nucleoplasm	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:88943549delG	AF052213	CCDS10972.1, CCDS10973.1	16q24	2013-10-16			ENSG00000129993	ENSG00000129993		"""Zinc fingers, MYND-type"", ""A-kinase anchor proteins"""	1537	protein-coding gene	gene with protein product	"""myeloid translocation gene 8 and 16b"""	603870				9790752, 20150326	Standard	NM_005187		Approved	MTGR2, ZMYND4, MTG16	uc002fmm.2	O75081	OTTHUMG00000137864	ENST00000268679.4:c.1797delC	16.37:g.88943549delG	ENSP00000268679:p.Pro599fs					CBFA2T3_uc002fml.1_Frame_Shift_Del_p.P513fs|CBFA2T3_uc002fmk.1_Frame_Shift_Del_p.P98fs	p.P599fs	NM_005187	NP_005178	O75081	MTG16_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0275)	12	1983	-			599					D3DX78|O60615|O60616|O60617|O75082|O75107|O75108|Q0P5Z6|Q6P5W6	Frame_Shift_Del	DEL	ENST00000268679.4	37	c.1797delC	CCDS10972.1																																																																																				0.721	CBFA2T3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000269545.2	NM_005187		5	6	NA	NA	NA	NA	NA	5	6	---	---	---	---
ITGAE	3682	broad.mit.edu	37	17	3680872	3680873	+	Frame_Shift_Ins	INS	-	-	C			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr17:3680872_3680873insC	ENST00000263087.4	-	2	214_215	c.116_117insG	c.(115-117)agcfs	p.S39fs		NM_002208.4	NP_002199.3	P38570	ITAE_HUMAN	integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide)	39					cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)	external side of plasma membrane (GO:0009897)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41				UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)		GCAGAAGGGAGCTGAGCACGAA	0.634																																					NSCLC(182;635 2928 8995 38788)	NSCLC(182;635 2928 8995 38788)	uc002fwo.3		NA																	0				large_intestine(2)|breast(1)|pancreas(1)	4						c.(115-117)AGCfs		integrin, alpha E precursor																																				SO:0001589	frameshift_variant	3682				cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity	g.chr17:3680872_3680873insC	L25851	CCDS32531.1	17p13	2010-03-23				ENSG00000083457		"""CD molecules"", ""Integrins"""	6147	protein-coding gene	gene with protein product		604682				8119947	Standard	NM_002208		Approved	CD103, HUMINAE	uc002fwo.4	P38570		ENST00000263087.4:c.117dupG	17.37:g.3680873_3680873dupC	ENSP00000263087:p.Ser39fs						p.S39fs	NM_002208	NP_002199	P38570	ITAE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)	2	215_216	-			39			FG-GAP 1.|Extracellular (Potential).		Q17RS6|Q9NZU9	Frame_Shift_Ins	INS	ENST00000263087.4	37	c.116_117insG	CCDS32531.1																																																																																				0.634	ITGAE-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438169.1	NM_002208		25	48	NA	NA	NA	NA	NA	25	48	---	---	---	---
PLD2	5338	broad.mit.edu	37	17	4711650	4711651	+	In_Frame_Ins	INS	-	-	AGG			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr17:4711650_4711651insAGG	ENST00000263088.6	+	4	453_454	c.322_323insAGG	c.(322-324)cag>cAGGag	p.109_110insE	RP11-81A22.5_ENST00000571067.1_lincRNA|PLD2_ENST00000572940.1_In_Frame_Ins_p.109_110insE	NM_001243108.1|NM_002663.4	NP_001230037.1|NP_002654.3	O14939	PLD2_HUMAN	phospholipase D2	109	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				cytoskeleton organization (GO:0007010)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|G-protein coupled receptor internalization (GO:0002031)|glycerophospholipid biosynthetic process (GO:0046474)|innate immune response (GO:0045087)|lipid catabolic process (GO:0016042)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	brush border membrane (GO:0031526)|endoplasmic reticulum membrane (GO:0005789)|plasma membrane (GO:0005886)	N-acylphosphatidylethanolamine-specific phospholipase D activity (GO:0070290)|phosphatidylinositol binding (GO:0035091)|phospholipase D activity (GO:0004630)			autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)	31					Choline(DB00122)	CCGTCATTTTCAGGAGCTGCAT	0.55																																							uc002fzc.2		NA																	0				breast(2)|upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	5						c.(322-324)CAG>CAGGAG		phospholipase D2	Choline(DB00122)																																			SO:0001652	inframe_insertion	5338				cell communication|cytoskeleton organization|small GTPase mediated signal transduction		NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity	g.chr17:4711650_4711651insAGG	AF035483	CCDS11057.1, CCDS58507.1	17p13.3	2008-04-14			ENSG00000129219	ENSG00000129219	3.1.4.4		9068	protein-coding gene	gene with protein product	"""choline phosphatase 2"""	602384				9858823, 9582313	Standard	NM_002663		Approved		uc002fzc.3	O14939	OTTHUMG00000090779	ENST00000263088.6:c.323_325dupAGG	17.37:g.4711651_4711653dupAGG	ENSP00000263088:p.Glu109_Glu109dup					PLD2_uc010vsj.1_5'UTR|PLD2_uc002fzd.2_In_Frame_Ins_p.109_110insE	p.109_110insE	NM_002663	NP_002654	O14939	PLD2_HUMAN			4	423_424	+			109_110			PX.		I3L2C9|O43540|O43579|O43580|Q6PGR0|Q96BY3	In_Frame_Ins	INS	ENST00000263088.6	37	c.322_323insAGG	CCDS11057.1																																																																																				0.550	PLD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207561.3	NM_002663		33	218	NA	NA	NA	NA	NA	33	218	---	---	---	---
SLFN5	162394	broad.mit.edu	37	17	33586549	33586549	+	Frame_Shift_Del	DEL	C	C	-			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr17:33586549delC	ENST00000299977.4	+	2	988	c.840delC	c.(838-840)ttcfs	p.F280fs	SLFN5_ENST00000542451.1_Frame_Shift_Del_p.F280fs|SLFN5_ENST00000592325.1_Frame_Shift_Del_p.F280fs	NM_144975.3	NP_659412.3	Q08AF3	SLFN5_HUMAN	schlafen family member 5	280					cell differentiation (GO:0030154)	nucleus (GO:0005634)	ATP binding (GO:0005524)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(8)|liver(2)|lung(6)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	34		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0191)		TCCTTAACTTCCTTGAAGTGC	0.473																																							uc002hjf.3		NA																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(838-840)TTCfs		schlafen family member 5							136.0	139.0	138.0					17																	33586549		2203	4300	6503	SO:0001589	frameshift_variant	162394				cell differentiation		ATP binding	g.chr17:33586549delC	BX647942	CCDS32619.1	17q12	2006-04-05				ENSG00000166750			28286	protein-coding gene	gene with protein product		614952				9846487	Standard	NM_144975		Approved	MGC19764	uc002hjf.4	Q08AF3		ENST00000299977.4:c.840delC	17.37:g.33586549delC	ENSP00000299977:p.Phe280fs					SLFN5_uc002hje.2_Frame_Shift_Del_p.F280fs|SLFN5_uc010wcg.1_Frame_Shift_Del_p.F280fs	p.F280fs	NM_144975	NP_659412	Q08AF3	SLFN5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0191)	2	957	+		Ovarian(249;0.17)	280					Q08AF2|Q8WU54|Q96A82	Frame_Shift_Del	DEL	ENST00000299977.4	37	c.840delC	CCDS32619.1																																																																																				0.473	SLFN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448649.2	NM_144975		29	189	NA	NA	NA	NA	NA	29	189	---	---	---	---
DDX52	11056	broad.mit.edu	37	17	35981260	35981260	+	Frame_Shift_Del	DEL	C	C	-	rs146778713		TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr17:35981260delC	ENST00000349699.2	-	11	1456	c.1413delG	c.(1411-1413)ttgfs	p.L472fs	DDX52_ENST00000394367.3_Frame_Shift_Del_p.L364fs	NM_007010.3	NP_008941.2	Q9Y2R4	DDX52_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 52	472	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.					membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			biliary_tract(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(5)|ovary(1)|skin(3)	17		Breast(25;0.00637)|Ovarian(249;0.15)				CTCTTGCTAGCAAGGCTGTAC	0.373																																							uc002hoi.1		NA																	0				ovary(1)|skin(1)	2						c.(1411-1413)TTGfs		ATP-dependent RNA helicase ROK1 isoform a							94.0	89.0	90.0					17																	35981260		2203	4300	6503	SO:0001589	frameshift_variant	11056					nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding	g.chr17:35981260delC	AF077033	CCDS11323.1	17q21.1	2014-05-06			ENSG00000141141	ENSG00000278053		"""DEAD-boxes"""	20038	protein-coding gene	gene with protein product		612500				11124703	Standard	XM_006721650		Approved	ROK1	uc002hoi.2	Q9Y2R4	OTTHUMG00000188475	ENST00000349699.2:c.1413delG	17.37:g.35981260delC	ENSP00000268854:p.Leu472fs					DDX52_uc002hoh.1_Frame_Shift_Del_p.L363fs	p.L471fs	NM_007010	NP_008941	Q9Y2R4	DDX52_HUMAN			11	1451	-		Breast(25;0.00637)|Ovarian(249;0.15)	471			Helicase C-terminal.		Q86YG1|Q8N213|Q9NVE0|Q9Y482	Frame_Shift_Del	DEL	ENST00000349699.2	37	c.1413delG	CCDS11323.1																																																																																				0.373	DDX52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256795.1	NM_152300		39	48	NA	NA	NA	NA	NA	39	48	---	---	---	---
KCNJ2	3759	broad.mit.edu	37	17	68172112	68172112	+	Frame_Shift_Del	DEL	G	G	-			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr17:68172112delG	ENST00000243457.3	+	2	1315	c.932delG	c.(931-933)tgcfs	p.C311fs	KCNJ2_ENST00000535240.1_Frame_Shift_Del_p.C311fs	NM_000891.2	NP_000882.1	P63252	KCNJ2_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 2	311					cardiac muscle cell action potential involved in contraction (GO:0086002)|cellular potassium ion homeostasis (GO:0030007)|cellular response to mechanical stimulus (GO:0071260)|magnesium ion transport (GO:0015693)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane repolarization during action potential (GO:0086011)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|positive regulation of potassium ion transmembrane transport (GO:1901381)|potassium ion import (GO:0010107)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|protein homotetramerization (GO:0051289)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of membrane repolarization (GO:0060306)|regulation of resting membrane potential (GO:0060075)|regulation of skeletal muscle contraction via regulation of action potential (GO:0014861)|relaxation of cardiac muscle (GO:0055119)|relaxation of skeletal muscle (GO:0090076)|synaptic transmission (GO:0007268)	dendritic spine (GO:0043197)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intrinsic component of membrane (GO:0031224)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|voltage-gated potassium channel complex (GO:0008076)	inward rectifier potassium channel activity (GO:0005242)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization (GO:0086008)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(13)|skin(1)|urinary_tract(1)	25	Breast(10;1.64e-08)					ACGACACAGTGCCGTAGCTCT	0.468																																							uc010dfg.2		NA																	0					0						c.(931-933)TGCfs		potassium inwardly-rectifying channel J2							62.0	64.0	63.0					17																	68172112		2203	4300	6503	SO:0001589	frameshift_variant	3759				synaptic transmission	integral to plasma membrane	inward rectifier potassium channel activity|protein binding	g.chr17:68172112delG	AF011904	CCDS11688.1	17q24.3	2014-09-17				ENSG00000123700		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6263	protein-coding gene	gene with protein product		600681				7696590, 11240146, 16382105	Standard	NM_000891		Approved	Kir2.1, IRK1, LQT7	uc002jir.3	P63252		ENST00000243457.3:c.932delG	17.37:g.68172112delG	ENSP00000243457:p.Cys311fs					KCNJ2_uc002jir.2_Frame_Shift_Del_p.C311fs	p.C311fs	NM_000891	NP_000882	P63252	IRK2_HUMAN			2	1333	+	Breast(10;1.64e-08)		311			Cytoplasmic (By similarity).		O15110|P48049	Frame_Shift_Del	DEL	ENST00000243457.3	37	c.932delG	CCDS11688.1																																																																																				0.468	KCNJ2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450889.1	NM_000891		11	86	NA	NA	NA	NA	NA	11	86	---	---	---	---
SETBP1	26040	broad.mit.edu	37	18	42530239	42530240	+	Frame_Shift_Ins	INS	-	-	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr18:42530239_42530240insA	ENST00000282030.5	+	4	1230_1231	c.934_935insA	c.(934-936)cagfs	p.Q312fs		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	312						nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		CAACGGGCTTCAGCCCTTGGTG	0.535									Schinzel-Giedion syndrome																														uc010dni.2		NA																	0				upper_aerodigestive_tract(2)|large_intestine(1)	3						c.(934-936)CAGfs		SET binding protein 1 isoform a																																				SO:0001589	frameshift_variant	26040	Schinzel-Giedion_syndrome	Familial Cancer Database	SGC, Schinzel-Giedion Midface Retraction syndrome		nucleus	DNA binding	g.chr18:42530239_42530240insA	AB022660	CCDS11923.2, CCDS45859.1	18q21.1	2008-08-01			ENSG00000152217	ENSG00000152217			15573	protein-coding gene	gene with protein product		611060				11231286	Standard	NM_015559		Approved	SEB, KIAA0437	uc010dni.3	Q9Y6X0	OTTHUMG00000132613	ENST00000282030.5:c.935dupA	18.37:g.42530240_42530240dupA	ENSP00000282030:p.Gln312fs						p.Q312fs	NM_015559	NP_056374	Q9Y6X0	SETBP_HUMAN		Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)	4	1230_1231	+			312					A6H8W5|Q6P6C3|Q9UEF3	Frame_Shift_Ins	INS	ENST00000282030.5	37	c.934_935insA	CCDS11923.2																																																																																				0.535	SETBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255854.4	NM_001130110		16	118	NA	NA	NA	NA	NA	16	118	---	---	---	---
LIPG	9388	broad.mit.edu	37	18	47110077	47110077	+	Frame_Shift_Del	DEL	C	C	-			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr18:47110077delC	ENST00000261292.4	+	8	1587	c.1309delC	c.(1309-1311)cccfs	p.P437fs	LIPG_ENST00000427224.2_Frame_Shift_Del_p.P363fs	NM_006033.2	NP_006024.1	Q9Y5X9	LIPE_HUMAN	lipase, endothelial	437	PLAT. {ECO:0000255|PROSITE- ProRule:PRU00152}.				cell proliferation (GO:0008283)|cholesterol homeostasis (GO:0042632)|high-density lipoprotein particle remodeling (GO:0034375)|lipid metabolic process (GO:0006629)|phospholipid catabolic process (GO:0009395)|phospholipid homeostasis (GO:0055091)|positive regulation of cholesterol transport (GO:0032376)|positive regulation of high-density lipoprotein particle clearance (GO:0010983)|regulation of lipoprotein metabolic process (GO:0050746)|response to nutrient (GO:0007584)|reverse cholesterol transport (GO:0043691)	extracellular space (GO:0005615)	heparin binding (GO:0008201)|lipoprotein lipase activity (GO:0004465)|phosphatidylcholine 1-acylhydrolase activity (GO:0008970)|phospholipase activity (GO:0004620)			autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(2)	18						CCTGTCTCAACCCCGCAACCC	0.592																																					Pancreas(126;280 1778 12814 26243 34948)	Pancreas(126;280 1778 12814 26243 34948)	uc002ldv.2		NA																	0				ovary(1)|skin(1)	2						c.(1309-1311)CCCfs		endothelial lipase precursor							61.0	55.0	57.0					18																	47110077		2203	4300	6503	SO:0001589	frameshift_variant	9388				cholesterol homeostasis|high-density lipoprotein particle remodeling|phospholipid catabolic process|phospholipid homeostasis|positive regulation of cholesterol transport|positive regulation of high-density lipoprotein particle clearance|reverse cholesterol transport	extracellular space	heparin binding|lipoprotein lipase activity|phospholipase A1 activity|protein binding|triglyceride lipase activity	g.chr18:47110077delC	AF118767	CCDS11938.1	18q21.1	2006-04-22				ENSG00000101670			6623	protein-coding gene	gene with protein product		603684				10318835, 10192396	Standard	XM_005258390		Approved	EDL	uc002ldv.3	Q9Y5X9		ENST00000261292.4:c.1309delC	18.37:g.47110077delC	ENSP00000261292:p.Pro437fs					LIPG_uc010xdh.1_Frame_Shift_Del_p.P363fs	p.P437fs	NM_006033	NP_006024	Q9Y5X9	LIPE_HUMAN			8	1561	+			437			PLAT.		B0LPG6|Q6P9C8|Q6UW82	Frame_Shift_Del	DEL	ENST00000261292.4	37	c.1309delC	CCDS11938.1																																																																																				0.592	LIPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447546.1	NM_006033		8	49	NA	NA	NA	NA	NA	8	49	---	---	---	---
EVC2	132884	broad.mit.edu	37	4	5620294	5620294	+	Frame_Shift_Del	DEL	C	C	-			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr4:5620294delC	ENST00000344408.5	-	15	2670	c.2617delG	c.(2617-2619)gccfs	p.A873fs	EVC2_ENST00000310917.2_Frame_Shift_Del_p.A793fs|EVC2_ENST00000344938.1_Frame_Shift_Del_p.A873fs	NM_147127.4	NP_667338.3	Q86UK5	LBN_HUMAN	Ellis van Creveld syndrome 2	873					smoothened signaling pathway (GO:0007224)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	81						AGAACTCGGGCCCGGATCTTG	0.602																																							uc003gij.2		NA																	0				large_intestine(3)|ovary(2)	5						c.(2617-2619)GCCfs		limbin							44.0	42.0	43.0					4																	5620294		2203	4300	6503	SO:0001589	frameshift_variant	132884					integral to membrane		g.chr4:5620294delC	AB083067	CCDS3382.2, CCDS54718.1	4p16.2-p16.1	2008-08-01	2008-08-01		ENSG00000173040	ENSG00000173040			19747	protein-coding gene	gene with protein product		607261				12136126, 12571802	Standard	NM_147127		Approved	LBN	uc003gij.3	Q86UK5	OTTHUMG00000125493	ENST00000344408.5:c.2617delG	4.37:g.5620294delC	ENSP00000342144:p.Ala873fs					EVC2_uc011bwb.1_Frame_Shift_Del_p.A313fs|EVC2_uc003gik.2_Frame_Shift_Del_p.A793fs	p.A873fs	NM_147127	NP_667338	Q86UK5	LBN_HUMAN			15	2671	-			873					Q86YT3|Q86YT4|Q8NG49	Frame_Shift_Del	DEL	ENST00000344408.5	37	c.2617delG	CCDS3382.2																																																																																				0.602	EVC2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000289822.2	NM_147127		34	29	NA	NA	NA	NA	NA	34	29	---	---	---	---
LGI2	55203	broad.mit.edu	37	4	25005529	25005530	+	Frame_Shift_Ins	INS	-	-	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr4:25005529_25005530insT	ENST00000382114.4	-	8	1366_1367	c.1181_1182insA	c.(1180-1182)cagfs	p.Q394fs		NM_018176.3	NP_060646.2	Q8N0V4	LGI2_HUMAN	leucine-rich repeat LGI family, member 2	394						extracellular region (GO:0005576)				breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(2)	33		Breast(46;0.173)				TGATGGGGACCTGGGAGCGGCT	0.51																																							uc003grf.2		NA																	0					0						c.(1180-1182)CAGfs		leucine-rich repeat LGI family, member 2																																				SO:0001589	frameshift_variant	55203					extracellular region		g.chr4:25005529_25005530insT	AJ487516	CCDS3431.1	4p15.31	2008-07-28			ENSG00000153012	ENSG00000153012			18710	protein-coding gene	gene with protein product		608301				12023020, 16014869	Standard	NM_018176		Approved	KIAA1916, FLJ10675	uc003grf.2	Q8N0V4	OTTHUMG00000097749	ENST00000382114.4:c.1182dupA	4.37:g.25005530_25005530dupT	ENSP00000371548:p.Gln394fs						p.Q394fs	NM_018176	NP_060646	Q8N0V4	LGI2_HUMAN			8	1280_1281	-		Breast(46;0.173)	394			EAR 4.		Q3MIN2|Q8NDW6|Q96PX2|Q9NVK4	Frame_Shift_Ins	INS	ENST00000382114.4	37	c.1181_1182insA	CCDS3431.1																																																																																				0.510	LGI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214978.1			76	173	NA	NA	NA	NA	NA	76	173	---	---	---	---
RBM47	54502	broad.mit.edu	37	4	40434703	40434711	+	In_Frame_Del	DEL	CAGCGGCTG	CAGCGGCTG	-	rs547575066|rs200374378|rs564837143	byFrequency	TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	CAGCGGCTG	CAGCGGCTG	-	-	CAGCGGCTG	CAGCGGCTG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr4:40434703_40434711delCAGCGGCTG	ENST00000381793.2	-	5	1895_1903	c.1499_1507delCAGCCGCTG	c.(1498-1509)gcagccgctgtc>gtc	p.AAA500del	RBM47_ENST00000514014.1_In_Frame_Del_p.AAA462del|RBM47_ENST00000295971.7_In_Frame_Del_p.AAA500del|RBM47_ENST00000515809.1_5'Flank|RBM47_ENST00000381795.6_In_Frame_Del_p.AAA431del|RBM47_ENST00000319592.4_In_Frame_Del_p.AAA431del			A0AV96	RBM47_HUMAN	RNA binding motif protein 47	500	Ala-rich.				hematopoietic progenitor cell differentiation (GO:0002244)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						GTGGGAATGACAgcggctgcggcggctgc	0.565																																							uc003gvc.2		NA																	0				breast(3)	3						c.(1498-1509)GCAGCCGCTGTC>GTC		RNA binding motif protein 47 isoform a																																				SO:0001651	inframe_deletion	54502					nucleus	nucleotide binding|RNA binding	g.chr4:40434703_40434711delCAGCGGCTG	AK000280	CCDS3460.1, CCDS43223.1	4p14	2013-02-12			ENSG00000163694	ENSG00000163694		"""RNA binding motif (RRM) containing"""	30358	protein-coding gene	gene with protein product							Standard	NM_019027		Approved	FLJ20273, NET18	uc003gvc.2	A0AV96	OTTHUMG00000128598	ENST00000381793.2:c.1499_1507delCAGCCGCTG	4.37:g.40434703_40434711delCAGCGGCTG	ENSP00000371212:p.Ala500_Ala502del					RBM47_uc003gvd.2_In_Frame_Del_p.AAA431del|RBM47_uc003gve.2_RNA|RBM47_uc011bys.1_In_Frame_Del_p.AAA462del	p.AAA500del	NM_001098634	NP_001092104	A0AV96	RBM47_HUMAN			6	2209_2217	-			500_502			Ala-rich.		A0PJK2|B5MED4|Q8NI52|Q8NI53|Q9NXG3	In_Frame_Del	DEL	ENST00000381793.2	37	c.1499_1507delCAGCCGCTG	CCDS43223.1																																																																																				0.565	RBM47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250456.2	NM_019027		28	71	NA	NA	NA	NA	NA	28	71	---	---	---	---
ADAMTS2	9509	broad.mit.edu	37	5	178580494	178580494	+	Frame_Shift_Del	DEL	C	C	-			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr5:178580494delC	ENST00000251582.7	-	9	1614	c.1513delG	c.(1513-1515)gcgfs	p.A505fs	ADAMTS2_ENST00000274609.5_Frame_Shift_Del_p.A505fs	NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	505	Disintegrin.				collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|lung development (GO:0030324)|protein processing (GO:0016485)|skin development (GO:0043588)|spermatogenesis (GO:0007283)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		ACACTCACCGCCGTGCACATC	0.687																																							uc003mjw.2		NA																	0				large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4						c.(1513-1515)GCGfs		ADAM metallopeptidase with thrombospondin type 1							59.0	46.0	50.0					5																	178580494		2203	4300	6503	SO:0001589	frameshift_variant	9509				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:178580494delC	AJ003125	CCDS4444.1, CCDS34311.1	5q23-q24	2008-07-18	2005-08-19		ENSG00000087116	ENSG00000087116		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	218	protein-coding gene	gene with protein product	"""procollagen I N-proteinase"", ""procollagen N-endopeptidase"""	604539	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 2"""			10094461, 15373769	Standard	NM_014244		Approved	ADAMTS-3, hPCPNI, PCINP, ADAM-TS2, NPI	uc003mjw.3	O95450	OTTHUMG00000130915	ENST00000251582.7:c.1513delG	5.37:g.178580494delC	ENSP00000251582:p.Ala505fs					ADAMTS2_uc011dgm.1_Frame_Shift_Del_p.A505fs	p.A505fs	NM_014244	NP_055059	O95450	ATS2_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)	9	1513	-	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	505			Disintegrin.			Frame_Shift_Del	DEL	ENST00000251582.7	37	c.1513delG	CCDS4444.1																																																																																				0.687	ADAMTS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253507.1	NM_014244		33	35	NA	NA	NA	NA	NA	33	35	---	---	---	---
CDC5L	988	broad.mit.edu	37	6	44387252	44387252	+	Frame_Shift_Del	DEL	T	T	-	rs191380486		TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr6:44387252delT	ENST00000371477.3	+	9	1458	c.1159delT	c.(1159-1161)ttgfs	p.L387fs		NM_001253.3	NP_001244.1	Q99459	CDC5L_HUMAN	cell division cycle 5-like	387	Interaction with PPP1R8.				cell cycle (GO:0007049)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleus (GO:0005634)|Prp19 complex (GO:0000974)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|WD40-repeat domain binding (GO:0071987)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(4)	29	all_lung(25;0.00433)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			TAATACCCCATTGCATGAGAG	0.443																																							uc003oxl.2		NA																	0				lung(3)|ovary(1)|kidney(1)|skin(1)	6						c.(1159-1161)TTGfs		CDC5-like							158.0	137.0	144.0					6																	44387252		2203	4300	6503	SO:0001589	frameshift_variant	988				cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	catalytic step 2 spliceosome|cytoplasm|nuclear speck|nucleolus	DNA binding|RNA binding	g.chr6:44387252delT	D85423	CCDS4912.1	6p21.1	2013-01-17	2013-01-17		ENSG00000096401	ENSG00000096401			1743	protein-coding gene	gene with protein product		602868	"""CDC5 (cell division cycle 5, S. pombe, homolog)-like"", ""CDC5 cell division cycle 5-like (S. pombe)"""			9598309, 9038199	Standard	NM_001253		Approved	PCDC5RP, hCDC5, CEF1, CDC5	uc003oxl.3	Q99459	OTTHUMG00000014767	ENST00000371477.3:c.1159delT	6.37:g.44387252delT	ENSP00000360532:p.Leu387fs						p.L387fs	NM_001253	NP_001244	Q99459	CDC5L_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		9	1418	+	all_lung(25;0.00433)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		387			Interaction with PPP1R8.		Q76N46|Q99974	Frame_Shift_Del	DEL	ENST00000371477.3	37	c.1159delT	CCDS4912.1																																																																																				0.443	CDC5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040743.1			101	58	NA	NA	NA	NA	NA	101	58	---	---	---	---
TAAR2	9287	broad.mit.edu	37	6	132939166	132939166	+	Frame_Shift_Del	DEL	C	C	-			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr6:132939166delC	ENST00000367931.1	-	2	178	c.179delG	c.(178-180)ggcfs	p.G60fs	TAAR2_ENST00000275191.2_Frame_Shift_Del_p.G15fs|TAAR2_ENST00000537809.1_Frame_Shift_Del_p.G15fs			Q9P1P5	TAAR2_HUMAN	trace amine associated receptor 2	60					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|trace-amine receptor activity (GO:0001594)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(1)	23	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00608)|GBM - Glioblastoma multiforme(226;0.0151)		GGCAAGATTGCCAAATATTGT	0.423																																							uc003qdl.1		NA																	0				ovary(1)	1						c.(178-180)GGCfs		trace amine associated receptor 2 isoform 1							104.0	100.0	102.0					6																	132939166		2203	4300	6503	SO:0001589	frameshift_variant	9287					plasma membrane	G-protein coupled receptor activity	g.chr6:132939166delC	AF112460	CCDS34541.1, CCDS5157.1	6q24	2012-08-08	2005-02-23	2005-02-24	ENSG00000146378	ENSG00000146378		"""GPCR / Class A : Trace amine associated receptors"""	4514	protein-coding gene	gene with protein product		604849	"""G protein-coupled receptor 58"""	GPR58		10684976, 15718104	Standard	NM_014626		Approved		uc003qdl.1	Q9P1P5	OTTHUMG00000015585	ENST00000367931.1:c.179delG	6.37:g.132939166delC	ENSP00000356908:p.Gly60fs					TAAR2_uc010kfr.1_Frame_Shift_Del_p.G15fs	p.G60fs	NM_001033080	NP_001028252	Q9P1P5	TAAR2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00608)|GBM - Glioblastoma multiforme(226;0.0151)	2	179	-	Breast(56;0.135)		60			Helical; Name=1; (Potential).		Q5QD02|Q6NWS1|Q6NWS2|Q6NWS3	Frame_Shift_Del	DEL	ENST00000367931.1	37	c.179delG	CCDS34541.1																																																																																				0.423	TAAR2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000390735.1	NM_014626		20	76	NA	NA	NA	NA	NA	20	76	---	---	---	---
UTRN	7402	broad.mit.edu	37	6	144782414	144782414	+	Frame_Shift_Del	DEL	C	C	-			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr6:144782414delC	ENST00000367545.3	+	21	2789	c.2789delC	c.(2788-2790)gccfs	p.A930fs		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	930					aging (GO:0007568)|muscle cell differentiation (GO:0042692)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|neuron projection morphogenesis (GO:0048812)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane (GO:0016020)|membrane raft (GO:0045121)|myofibril (GO:0030016)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|protein kinase binding (GO:0019901)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		GAAAATAAGGCCCAGGTGTCT	0.383																																							uc003qkt.2		NA																	0				ovary(4)|pancreas(1)	5						c.(2788-2790)GCCfs		utrophin							138.0	147.0	144.0					6																	144782414		2203	4300	6503	SO:0001589	frameshift_variant	7402				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding	g.chr6:144782414delC	AK023675	CCDS34547.1	6q24	2008-02-05	2006-12-13		ENSG00000152818	ENSG00000152818			12635	protein-coding gene	gene with protein product		128240	"""utrophin (homologous to dystrophin)"""	DMDL		1426262	Standard	NM_007124		Approved	DRP, DRP1	uc003qkt.3	P46939	OTTHUMG00000015746	ENST00000367545.3:c.2789delC	6.37:g.144782414delC	ENSP00000356515:p.Ala930fs					UTRN_uc010khq.1_Frame_Shift_Del_p.A930fs	p.A930fs	NM_007124	NP_009055	P46939	UTRO_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)	21	2881	+		Ovarian(120;0.218)	930					Q5SYY1|Q5SZ57|Q9UJ40	Frame_Shift_Del	DEL	ENST00000367545.3	37	c.2789delC	CCDS34547.1																																																																																				0.383	UTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042551.1			64	139	NA	NA	NA	NA	NA	64	139	---	---	---	---
GRM1	2911	broad.mit.edu	37	6	146755359	146755359	+	Frame_Shift_Del	DEL	G	G	-			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr6:146755359delG	ENST00000282753.1	+	8	3247	c.3012delG	c.(3010-3012)ctgfs	p.L1004fs	GRM1_ENST00000492807.2_3'UTR|GRM1_ENST00000361719.2_Frame_Shift_Del_p.L1004fs|GRM1_ENST00000392299.2_3'UTR|GRM1_ENST00000507907.1_3'UTR|GRM1_ENST00000355289.4_3'UTR			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	1004					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|cell death (GO:0008219)|cellular response to electrical stimulus (GO:0071257)|dimeric G-protein coupled receptor signaling pathway (GO:0038042)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of pain (GO:0019233)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|G-protein coupled receptor dimeric complex (GO:0038037)|G-protein coupled receptor homodimeric complex (GO:0038038)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)		CCCTCTTCCTGGCCGAACCAG	0.677																																							uc010khw.1		NA																	0				lung(8)|ovary(4)|central_nervous_system(3)|large_intestine(2)|breast(2)	19						c.(3010-3012)CTGfs		glutamate receptor, metabotropic 1 isoform alpha	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)						55.0	66.0	62.0					6																	146755359		2203	4300	6503	SO:0001589	frameshift_variant	2911				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr6:146755359delG	U31215	CCDS5209.1, CCDS47497.1, CCDS64548.1	6q24	2014-06-12			ENSG00000152822	ENSG00000152822		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4593	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 85"""	604473				9076744, 9376535	Standard	NM_001278064		Approved	GPRC1A, mGlu1, MGLUR1, PPP1R85	uc010khw.2	Q13255	OTTHUMG00000015752	ENST00000282753.1:c.3012delG	6.37:g.146755359delG	ENSP00000282753:p.Leu1004fs					GRM1_uc010khv.1_3'UTR|GRM1_uc003qll.2_3'UTR|GRM1_uc011edz.1_3'UTR|GRM1_uc011eea.1_3'UTR	p.L1004fs	NM_000838	NP_000829	Q13255	GRM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	9	3482	+		Ovarian(120;0.0387)	1004			Cytoplasmic (Potential).		B9EG79|F8W805|Q13256|Q14757|Q14758|Q5VTF7|Q5VTF8|Q9NU10|Q9UGS9|Q9UGT0	Frame_Shift_Del	DEL	ENST00000282753.1	37	c.3012delG	CCDS5209.1																																																																																				0.677	GRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042574.1	NM_000838		68	76	NA	NA	NA	NA	NA	68	76	---	---	---	---
ELMO1	9844	broad.mit.edu	37	7	37283961	37283962	+	Splice_Site	INS	-	-	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr7:37283961_37283962insA	ENST00000310758.4	-	7	1095_1096	c.448_449insT	c.(448-450)tgc>tTgc	p.C150fs	ELMO1_ENST00000442504.1_Splice_Site_p.C150fs|ELMO1_ENST00000448602.1_Splice_Site_p.C150fs	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN	engulfment and cell motility 1	150					actin cytoskeleton organization (GO:0030036)|apoptotic process (GO:0006915)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|phagocytosis, engulfment (GO:0006911)|Rac protein signal transduction (GO:0016601)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	SH3 domain binding (GO:0017124)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						ATATTCTTACCAAGGCTTCATG	0.351																																							uc003tfk.1		NA																	0				ovary(3)|skin(2)|upper_aerodigestive_tract(1)	6						c.(448-450)TGCfs		engulfment and cell motility 1 isoform 1																																				SO:0001630	splice_region_variant	9844				actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding	g.chr7:37283961_37283962insA	AF398885	CCDS5449.1, CCDS5450.1	7p14.1	2012-07-10	2006-01-20		ENSG00000155849	ENSG00000155849		"""Engulfment and cell motility proteins"""	16286	protein-coding gene	gene with protein product		606420	"""engulfment and cell motility 1 (ced-12 homolog, C. elegans)"""			11595183	Standard	NM_001039459		Approved	KIAA0281, CED12, ELMO-1, CED-12	uc003tfk.2	Q92556	OTTHUMG00000023701	ENST00000310758.4:c.449+1->T	7.37:g.37283963_37283963dupA						ELMO1_uc011kbc.1_Frame_Shift_Ins_p.C54fs|ELMO1_uc010kxg.1_Frame_Shift_Ins_p.C150fs	p.C150fs	NM_014800	NP_055615	Q92556	ELMO1_HUMAN			7	755_756	-			150					A4D1X6|Q29R79|Q6ZTJ0|Q96PB0|Q9H0I1	Frame_Shift_Ins	INS	ENST00000310758.4	37	c.448_449insT	CCDS5449.1																																																																																				0.351	ELMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219830.4	NM_130442	Frame_Shift_Ins	26	110	NA	NA	NA	NA	NA	26	110	---	---	---	---
CDK13	8621	broad.mit.edu	37	7	40039085	40039085	+	Frame_Shift_Del	DEL	G	G	-			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr7:40039085delG	ENST00000181839.4	+	4	2773	c.2168delG	c.(2167-2169)aggfs	p.R723fs	CDK13_ENST00000340829.5_Frame_Shift_Del_p.R723fs|CDK13_ENST00000484589.1_3'UTR	NM_003718.4|NM_031267.3	NP_003709.3|NP_112557.2	Q14004	CDK13_HUMAN	cyclin-dependent kinase 13	723	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				alternative mRNA splicing, via spliceosome (GO:0000380)|hemopoiesis (GO:0030097)|multicellular organismal development (GO:0007275)|phosphorylation of RNA polymerase II C-terminal domain (GO:0070816)|positive regulation of cell proliferation (GO:0008284)|regulation of mitosis (GO:0007088)|viral process (GO:0016032)	cyclin K-CDK13 complex (GO:0002945)|extracellular space (GO:0005615)|nuclear cyclin-dependent protein kinase holoenzyme complex (GO:0019908)|nuclear speck (GO:0016607)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(2)|prostate(2)|skin(5)|stomach(2)|urinary_tract(1)	49						TACAAAGCCAGGGATAAAGAC	0.398																																							uc003thh.3		NA																	0				lung(2)|skin(2)|ovary(1)	5						c.(2167-2169)AGGfs		cell division cycle 2-like 5 isoform 1							106.0	107.0	107.0					7																	40039085		2203	4300	6503	SO:0001589	frameshift_variant	8621				alternative nuclear mRNA splicing, via spliceosome|hemopoiesis|interspecies interaction between organisms|phosphorylation of RNA polymerase II C-terminal domain|positive regulation of cell proliferation|regulation of mitosis	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity	g.chr7:40039085delG	M80629	CCDS5461.1, CCDS5462.1	7p14.1	2011-11-08	2009-12-16	2009-12-16	ENSG00000065883	ENSG00000065883		"""Cyclin-dependent kinases"""	1733	protein-coding gene	gene with protein product	"""cholinesterase-related cell division controller"""	603309	"""cell division cycle 2-like 5 (cholinesterase-related cell division controller)"""	CDC2L5		1731328, 19884882	Standard	NM_003718		Approved	CHED, CDC2L, KIAA1791	uc003thh.4	Q14004	OTTHUMG00000023726	ENST00000181839.4:c.2168delG	7.37:g.40039085delG	ENSP00000181839:p.Arg723fs					CDK13_uc003thi.3_Frame_Shift_Del_p.R723fs|CDK13_uc011kbf.1_Frame_Shift_Del_p.R109fs	p.R723fs	NM_003718	NP_003709	Q14004	CDK13_HUMAN			4	2450	+			723			Protein kinase.		Q53G78|Q6DKQ9|Q75MH4|Q75MH5|Q96JN4|Q9H4A0|Q9H4A1|Q9UDR4	Frame_Shift_Del	DEL	ENST00000181839.4	37	c.2168delG	CCDS5461.1																																																																																				0.398	CDK13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250726.2	NM_003718		35	91	NA	NA	NA	NA	NA	35	91	---	---	---	---
KBTBD11	9920	broad.mit.edu	37	8	1949854	1949855	+	Frame_Shift_Del	DEL	CG	CG	-			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	CG	CG	-	-	CG	CG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr8:1949854_1949855delCG	ENST00000320248.3	+	2	1462_1463	c.496_497delCG	c.(496-498)cgcfs	p.R166fs		NM_014867.2	NP_055682.1	O94819	KBTBB_HUMAN	kelch repeat and BTB (POZ) domain containing 11	166	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.									lung(1)|pancreas(1)	2		Ovarian(12;0.0563)|Colorectal(14;0.0815)|Hepatocellular(245;0.0831)		BRCA - Breast invasive adenocarcinoma(11;7.72e-05)|READ - Rectum adenocarcinoma(644;0.0929)|COAD - Colon adenocarcinoma(149;0.134)		CGACTACTTCCGCGCGCGCGCG	0.767																																							uc003wpw.3		NA																	0				pancreas(1)	1						c.(496-498)CGCfs		kelch repeat and BTB (POZ) domain containing 11				3,1463		0,3,730						2.0	1.0			2	17,3641		2,13,1814	no	frameshift	KBTBD11	NM_014867.2		2,16,2544	A1A1,A1R,RR		0.4647,0.2046,0.3903				20,5104				SO:0001589	frameshift_variant	9920							g.chr8:1949854_1949855delCG	AB018254	CCDS34795.1	8p23.3	2014-08-12			ENSG00000176595	ENSG00000176595		"""BTB/POZ domain containing"""	29104	protein-coding gene	gene with protein product							Standard	NM_014867		Approved	KIAA0711, KLHDC7C	uc003wpw.4	O94819	OTTHUMG00000163629	ENST00000320248.3:c.496_497delCG	8.37:g.1949864_1949865delCG	ENSP00000321544:p.Arg166fs						p.R166fs	NM_014867	NP_055682	O94819	KBTBB_HUMAN		BRCA - Breast invasive adenocarcinoma(11;7.72e-05)|READ - Rectum adenocarcinoma(644;0.0929)|COAD - Colon adenocarcinoma(149;0.134)	2	1462_1463	+		Ovarian(12;0.0563)|Colorectal(14;0.0815)|Hepatocellular(245;0.0831)	166			BTB.		Q3L1I0	Frame_Shift_Del	DEL	ENST00000320248.3	37	c.496_497delCG	CCDS34795.1																																																																																				0.767	KBTBD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374601.1	NM_014867		2	4	NA	NA	NA	NA	NA	2	4	---	---	---	---
SLC24A2	25769	broad.mit.edu	37	9	19577004	19577005	+	Frame_Shift_Ins	INS	-	-	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr9:19577004_19577005insT	ENST00000341998.2	-	5	1206_1207	c.1145_1146insA	c.(1144-1146)aagfs	p.K382fs	SLC24A2_ENST00000286344.3_Frame_Shift_Ins_p.K365fs	NM_001193288.2|NM_020344.3	NP_001180217.1|NP_065077.1	Q9UI40	NCKX2_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 2	382					cellular calcium ion homeostasis (GO:0006874)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|learning (GO:0007612)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)	cadmium ion binding (GO:0046870)|calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium, potassium:sodium antiporter activity (GO:0008273)|manganese ion binding (GO:0030145)|nickel cation binding (GO:0016151)|potassium ion binding (GO:0030955)|sodium ion binding (GO:0031402)|symporter activity (GO:0015293)			endometrium(3)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33				GBM - Glioblastoma multiforme(1;1.67e-55)|Lung(42;0.0443)		GAATTGAAGCCTTTTCTCTGAA	0.505																																							uc003zoa.1		NA																	0				ovary(3)	3						c.(1144-1146)AAGfs		solute carrier family 24																																				SO:0001589	frameshift_variant	25769				visual perception	integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity	g.chr9:19577004_19577005insT	AF097366	CCDS6493.1, CCDS55297.1	9p22.1	2013-05-22			ENSG00000155886	ENSG00000155886		"""Solute carriers"""	10976	protein-coding gene	gene with protein product		609838				10662833	Standard	NM_020344		Approved	NCKX2	uc003zoa.2	Q9UI40	OTTHUMG00000019646	ENST00000341998.2:c.1146dupA	9.37:g.19577008_19577008dupT	ENSP00000344801:p.Lys382fs					SLC24A2_uc003zob.1_Frame_Shift_Ins_p.K365fs	p.K382fs	NM_020344	NP_065077	Q9UI40	NCKX2_HUMAN		GBM - Glioblastoma multiforme(1;1.67e-55)|Lung(42;0.0443)	5	1207_1208	-			382			Cytoplasmic (Potential).		B7ZLL8|Q9NTN5|Q9NZQ4	Frame_Shift_Ins	INS	ENST00000341998.2	37	c.1145_1146insA	CCDS6493.1																																																																																				0.505	SLC24A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051866.2	NM_020344		18	80	NA	NA	NA	NA	NA	18	80	---	---	---	---
SPATA31C2	645961	broad.mit.edu	37	9	90746725	90746725	+	IGR	DEL	C	C	-			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr9:90746725delC								U6 (133475 upstream) : U3 (242458 downstream)																							GTAAAGCCAACCCACCTTCTA	0.493																																							uc011lti.1		NA																	0					NA						c.(1225-1227)GGGfs		SubName: Full=cDNA FLJ59639;							11.0	9.0	10.0					9																	90746725		691	1591	2282	SO:0001628	intergenic_variant	0							g.chr9:90746725delC																													9.37:g.90746725delC							p.G409fs							4	1256	-									Frame_Shift_Del	DEL		37	c.1227delG																																																																																				0	0.493									84	77	NA	NA	NA	NA	NA	84	77	---	---	---	---
BICD2	23299	broad.mit.edu	37	9	95477560	95477560	+	Frame_Shift_Del	DEL	G	G	-			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr9:95477560delG	ENST00000375512.3	-	7	2511	c.2444delC	c.(2443-2445)ccgfs	p.P815fs	BICD2_ENST00000356884.6_Frame_Shift_Del_p.P815fs	NM_015250.3	NP_056065.1	Q8TD16	BICD2_HUMAN	bicaudal D homolog 2 (Drosophila)	815					cell death (GO:0008219)|microtubule anchoring at microtubule organizing center (GO:0072393)|minus-end-directed organelle transport along microtubule (GO:0072385)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	Rab GTPase binding (GO:0017137)			cervix(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23						CTTGGTCTTCGGGGCGGCTTT	0.682																																							uc004aso.1		NA																	0				skin(1)	1						c.(2443-2445)CCGfs		bicaudal D homolog 2 isoform 2							40.0	36.0	37.0					9																	95477560		2203	4299	6502	SO:0001589	frameshift_variant	23299				microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule	cytoplasmic vesicle|cytoskeleton|Golgi apparatus|plasma membrane	Rab GTPase binding	g.chr9:95477560delG	AB014599	CCDS6700.1, CCDS35064.1	9q22.32	2008-02-05			ENSG00000185963	ENSG00000185963			17208	protein-coding gene	gene with protein product		609797				9734811	Standard	NM_001003800		Approved	KIAA0699	uc004asp.1	Q8TD16	OTTHUMG00000021036	ENST00000375512.3:c.2444delC	9.37:g.95477560delG	ENSP00000364662:p.Pro815fs					BICD2_uc004asp.1_Frame_Shift_Del_p.P815fs	p.P815fs	NM_015250	NP_056065	Q8TD16	BICD2_HUMAN			7	2501	-			815					O75181|Q5TBQ2|Q5TBQ3|Q96LH2|Q9BT84|Q9H561	Frame_Shift_Del	DEL	ENST00000375512.3	37	c.2444delC	CCDS6700.1																																																																																				0.682	BICD2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055508.1	NM_015250		25	16	NA	NA	NA	NA	NA	25	16	---	---	---	---
